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KU-812 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

554 mutations reported
207 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
IGSF3ENSG00000143061ENST00000369483p.V489Mc.1465G>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.L411Sc.1232T>CSubstitution - Missense
ZNF831ENSG00000124203ENST00000371030p.L906Qc.2717T>ASubstitution - Missense
ENST00000359032_v68p.A849Vc.2546C>TSubstitution - Missense
GDF6ENSG00000156466ENST00000287020p.A82Vc.245C>TSubstitution - Missense
TPTEENSG00000166157ENST00000361285p.S544Gc.1630A>GSubstitution - Missense
IL12RB1ENSG00000096996ENST00000322153p.P228Pc.684C>GSubstitution - coding silent
RREB1ENSG00000124782ENST00000379933p.P698Pc.2094C>TSubstitution - coding silent
ENST00000279028_v68p.V322Gc.965T>GSubstitution - Missense
EPHA5ENSG00000145242ENST00000273854p.A278Tc.832G>ASubstitution - Missense
CCDC163PENSG00000236624ENST00000432082p.P31Lc.92C>TSubstitution - Missense
ZEB1ENSG00000148516ENST00000446923p.Q711Qc.2133A>GSubstitution - coding silent
DNM2ENSG00000079805ENST00000314646p.P195Lc.584C>TSubstitution - Missense
ALDH18A1ENSG00000059573ENST00000371224p.?c.88+3A>GUnknown
AHNAK2ENSG00000185567ENST00000333244p.I2832Mc.8496C>GSubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.T1849Ac.5545A>GSubstitution - Missense
LDHAENSG00000134333ENST00000422447p.?c.710+9T>AUnknown
DOCK7ENSG00000116641ENST00000340370p.V1460Lc.4378G>CSubstitution - Missense
ITPRIPL1ENSG00000198885ENST00000361124p.P143Lc.428C>TSubstitution - Missense
SMTNENSG00000183963ENST00000333137p.E628Qc.1882G>CSubstitution - Missense
SYMPKENSG00000125755ENST00000245934p.A671Vc.2012C>TSubstitution - Missense
KPTNENSG00000118162ENST00000338134p.A383Ac.1149C>TSubstitution - coding silent
MSH6ENSG00000116062ENST00000234420p.L435Lc.1303C>TSubstitution - coding silent
P4HTMENSG00000178467ENST00000383729p.D130Dc.390C>TSubstitution - coding silent
ENST00000316490_v65p.E2862Qc.8584G>CSubstitution - Missense
FAM114A2ENSG00000055147ENST00000351797p.?c.311-6C>TUnknown
ADAMTS6ENSG00000049192ENST00000381055p.I830Vc.2488A>GSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369351p.L411Sc.1232T>CSubstitution - Missense
PLECENSG00000178209ENST00000356346p.E623Kc.1867G>ASubstitution - Missense
DAP3ENSG00000132676ENST00000368336p.R50Hc.149G>ASubstitution - Missense
PPFIA2ENSG00000139220ENST00000549396p.L695Lc.2085G>ASubstitution - coding silent
JMJD1CENSG00000171988ENST00000402544p.N1546Nc.4638C>TSubstitution - coding silent
ENST00000456228p.?c.3038-4T>GUnknown
TMEM260ENSG00000070269ENST00000261556p.N95Sc.284A>GSubstitution - Missense
ENST00000333834_v70p.R319Cc.955C>TSubstitution - Missense
FBP2ENSG00000130957ENST00000375337p.R277Qc.830G>ASubstitution - Missense
FBXO24ENSG00000106336ENST00000427939p.T203Pc.607A>CSubstitution - Missense
NM_005689.1p.Y599Cc.1796A>GSubstitution - Missense
HIVEP2ENSG00000010818ENST00000012134p.Q2327Kc.6979C>ASubstitution - Missense
PRDM13ENSG00000112238ENST00000369214p.K595Nc.1785G>CSubstitution - Missense
ADTRPENSG00000111863ENST00000379413p.T2Mc.5C>TSubstitution - Missense
EMR2ENSG00000127507ENST00000315576p.P98Pc.294A>GSubstitution - coding silent
SHANK3ENSG00000251322ENST00000262795p.S1393Sc.4179C>TSubstitution - coding silent
ECI2ENSG00000198721ENST00000361538p.E320fs*14c.959_960delAGDeletion - Frameshift
SOGA3ENSG00000214338ENST00000368268p.?c.1326+10G>TUnknown
DSTENSG00000151914ENST00000370765p.R2308Gc.6922C>GSubstitution - Missense
VAV2ENSG00000160293ENST00000406606p.E608Ec.1824G>ASubstitution - coding silent
NLRP1ENSG00000091592ENST00000572272p.K641Nc.1923G>TSubstitution - Missense
TLR2ENSG00000137462ENST00000260010p.R629Rc.1887G>ASubstitution - coding silent
MEGF11ENSG00000157890ENST00000360698p.G430Ec.1289G>ASubstitution - Missense
BRD2ENSG00000204256ENST00000395289p.P260Pc.780G>ASubstitution - coding silent
ERMNENSG00000136541ENST00000397283p.S186Cc.557C>GSubstitution - Missense
PPFIA2ENSG00000139220ENST00000333447p.L677Lc.2031G>ASubstitution - coding silent
ITPRIPL1ENSG00000198885ENST00000439118p.P135Lc.404C>TSubstitution - Missense
TIAM2ENSG00000146426ENST00000456144p.R300Wc.898C>TSubstitution - Missense
SVILENSG00000197321ENST00000355867p.M764Ic.2292G>TSubstitution - Missense
AIM1ENSG00000112297ENST00000369066p.M1244Tc.3731T>CSubstitution - Missense
CCDC15ENSG00000149548ENST00000344762p.A110Tc.328G>ASubstitution - Missense
GOLGA8MENSG00000188626ENST00000563027p.S553Fc.1658C>TSubstitution - Missense
CLSPNENSG00000092853ENST00000318121p.P322Sc.964C>TSubstitution - Missense
SORCS1ENSG00000108018ENST00000344440p.E122Dc.366G>TSubstitution - Missense
PAPPA2ENSG00000116183ENST00000367662p.P1679Tc.5035C>ASubstitution - Missense
ZBTB7BENSG00000160685ENST00000292176p.E280Ec.840G>ASubstitution - coding silent
ENST00000456228p.Y530Yc.1590T>CSubstitution - coding silent
MFSD11ENSG00000092931ENST00000336509p.T177Mc.530C>TSubstitution - Missense
ENST00000417088p.?c.87+7G>TUnknown
PTPN13ENSG00000163629ENST00000436978p.?c.2487+8C>TUnknown
CRIPAKENSG00000179979ENST00000324803p.P373Lc.1118C>TSubstitution - Missense
ZNF138ENSG00000197008ENST00000494380p.?c.3+2T>CUnknown
EMR2ENSG00000127507ENST00000315576p.W708*c.2124G>ASubstitution - Nonsense
MICAL1ENSG00000135596ENST00000368952p.L701fs*1c.2101delCDeletion - Frameshift
CAMSAP2ENSG00000118200ENST00000358823p.R954Hc.2861G>ASubstitution - Missense
ENST00000393462p.K449delKc.1345_1347delAAGDeletion - In frame
MACF1ENSG00000127603ENST00000360115p.I215Vc.643A>GSubstitution - Missense
IGFN1ENSG00000163395ENST00000335211p.A549Ac.1647C>ASubstitution - coding silent
SLC44A5ENSG00000137968ENST00000370859p.?c.1086-3C>AUnknown
ATP11AENSG00000068650ENST00000375630p.?c.2522-7C>TUnknown
AFPENSG00000081051ENST00000395792p.Y185Hc.553T>CSubstitution - Missense
PLECENSG00000178209ENST00000345136p.E637Kc.1909G>ASubstitution - Missense
CMTM1ENSG00000089505ENST00000379500p.E112fs*1c.333_334ins16Insertion - Frameshift
RFPL4AENSG00000223638ENST00000434937p.F100Fc.300C>TSubstitution - coding silent
ABCG5ENSG00000138075ENST00000260645p.A633Vc.1898C>TSubstitution - Missense
CRKLENSG00000099942ENST00000354336p.V58Vc.174C>TSubstitution - coding silent
ENSG00000173213ENST00000308911p.P305Sc.913C>TSubstitution - Missense
NFRKBENSG00000170322ENST00000524794p.T308Sc.923C>GSubstitution - Missense
BSDC1ENSG00000160058ENST00000373520p.?c.728-8C>TUnknown
SPAG17ENSG00000155761ENST00000336338p.G1183Sc.3547G>ASubstitution - Missense
MANEALENSG00000185090ENST00000373045p.F253Lc.757T>CSubstitution - Missense
PTCH1ENSG00000185920ENST00000331920p.A174Ac.522G>TSubstitution - coding silent
AGPAT5ENSG00000155189ENST00000285518p.H261Hc.783C>TSubstitution - coding silent
CSGALNACT1ENSG00000147408ENST00000332246p.N264Sc.791A>GSubstitution - Missense
PLECENSG00000178209ENST00000322810p.E774Kc.2320G>ASubstitution - Missense
HOXA3ENSG00000105997ENST00000396352p.S293Sc.879G>TSubstitution - coding silent
ENTPD8ENSG00000188833ENST00000371506p.E31Ec.93G>ASubstitution - coding silent
REV3LENSG00000009413ENST00000358835p.I596Lc.1786A>CSubstitution - Missense
P4HTMENSG00000178467ENST00000343546p.D130Dc.390C>TSubstitution - coding silent
RBM22ENSG00000086589ENST00000199814p.?c.747-7C>TUnknown
ZNF285ENSG00000267508ENST00000330997p.V239Lc.715G>CSubstitution - Missense
XM_375550.2p.?c.1858-9C>TUnknown
EMR3ENSG00000131355ENST00000253673p.V192Ec.575T>ASubstitution - Missense
TGENSG00000042832ENST00000220616p.N2616Ic.7847A>TSubstitution - Missense
F9ENSG00000101981ENST00000218099p.V257Ic.769G>ASubstitution - Missense
SLC35G5ENSG00000177710ENST00000382435p.A273Vc.818C>TSubstitution - Missense
VSIG2ENSG00000019102ENST00000326621p.R270Sc.810G>TSubstitution - Missense
TGM1ENSG00000092295ENST00000206765p.M149Tc.446T>CSubstitution - Missense
MCTP2ENSG00000140563ENST00000357742p.V857Ac.2570T>CSubstitution - Missense
ENST00000255326p.E191Qc.571G>CSubstitution - Missense
BRI3ENSG00000164713ENST00000297290p.G94Ac.281G>CSubstitution - Missense
PLECENSG00000178209ENST00000354589p.E637Kc.1909G>ASubstitution - Missense
ZEB1ENSG00000148516ENST00000320985p.Q727Qc.2181A>GSubstitution - coding silent
MAELENSG00000143194ENST00000367872p.L313Fc.937C>TSubstitution - Missense
PSMD13ENSG00000185627ENST00000431206p.K331Qc.991A>CSubstitution - Missense
CREBZFENSG00000137504ENST00000490820p.S14Nc.41G>ASubstitution - Missense
OR2T2ENSG00000196240ENST00000342927p.A39Ac.117T>GSubstitution - coding silent
CACNA2D3ENSG00000157445ENST00000474759p.?c.322-3_332>13Unknown
AP2A1ENSG00000196961ENST00000359032p.A849Vc.2546C>TSubstitution - Missense
RGS12ENSG00000159788ENST00000344733p.P376Pc.1128G>ASubstitution - coding silent
HSPBP1ENSG00000133265ENST00000255631p.A158Sc.472G>TSubstitution - Missense
ENST00000356067p.P791Pc.2373G>ASubstitution - coding silent
SULF1ENSG00000137573ENST00000260128p.L21Hc.62T>ASubstitution - Missense
ATP2A3ENSG00000074370ENST00000352011p.F455Fc.1365C>TSubstitution - coding silent
ZNF267ENSG00000185947ENST00000300870p.A733Ac.2199A>GSubstitution - coding silent
GAD1ENSG00000128683ENST00000358196p.G194Gc.582A>GSubstitution - coding silent
ENST00000542622p.R394Hc.1181G>ASubstitution - Missense
ENST00000326929p.Y734Yc.2202T>CSubstitution - coding silent
RRP36ENSG00000124541ENST00000244496p.G162Ec.485G>ASubstitution - Missense
MARCH3ENSG00000173926ENST00000308660p.L13Lc.39G>ASubstitution - coding silent
SFRP4ENSG00000106483ENST00000436072p.?c.855+3A>GUnknown
PRRC2AENSG00000204469ENST00000376033p.P511Qc.1532C>ASubstitution - Missense
RXFP1ENSG00000171509ENST00000307765p.D570Yc.1708G>TSubstitution - Missense
KCTD15ENSG00000153885ENST00000430256p.T15Ic.44C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.K132Rc.395A>GSubstitution - Missense
LCP1ENSG00000136167ENST00000323076p.?c.882+10G>AUnknown
KRT84ENSG00000161849ENST00000257951p.R71Qc.212G>ASubstitution - Missense
RNF17ENSG00000132972ENST00000255324p.E191Qc.571G>CSubstitution - Missense
LTA4HENSG00000111144ENST00000413268p.?c.567-7C>AUnknown
KRTAP5-2ENSG00000205867ENST00000412090p.G99Gc.297C>TSubstitution - coding silent
ZFYVE26ENSG00000072121ENST00000347230p.K384Nc.1152G>CSubstitution - Missense
XM_043272.9p.T1597Mc.4790C>TSubstitution - Missense
RGNENSG00000130988ENST00000397180p.A177Vc.530C>TSubstitution - Missense
ZNF347ENSG00000197937ENST00000334197p.G140Dc.419G>ASubstitution - Missense
ENST00000346567p.?c.589+8G>CUnknown
ZNF716ENSG00000182111ENST00000420713p.F169Ic.505T>ASubstitution - Missense
IL12RB1ENSG00000096996ENST00000430026p.P228Pc.684C>GSubstitution - coding silent
VAV2ENSG00000160293ENST00000371850p.E618Ec.1854G>ASubstitution - coding silent
VSTM2AENSG00000170419ENST00000402026p.S23Tc.67T>ASubstitution - Missense
KIAA0947ENSG00000164151ENST00000296564p.A389Sc.1165G>TSubstitution - Missense
ITGA1ENSG00000213949ENST00000282588p.V120Vc.360C>GSubstitution - coding silent
ENST00000319396p.V414Ic.1240G>ASubstitution - Missense
EYA2ENSG00000064655ENST00000327619p.R252Rc.756G>TSubstitution - coding silent
GPATCH4ENSG00000160818ENST00000438976p.N40Dc.118A>GSubstitution - Missense
RBM22ENSG00000086589ENST00000540000p.?c.600-7C>TUnknown
IL12RB1ENSG00000096996ENST00000593993p.P228Pc.684C>GSubstitution - coding silent
ZNF165ENSG00000197279ENST00000377325p.R392*c.1174C>TSubstitution - Nonsense
METTL25ENSG00000127720ENST00000248306p.A595Vc.1784C>TSubstitution - Missense
GPATCH4ENSG00000160818ENST00000368232p.N35Dc.103A>GSubstitution - Missense
CRY2ENSG00000121671ENST00000443527p.V123Mc.367G>ASubstitution - Missense
BCANENSG00000132692ENST00000361588p.G414Rc.1240G>ASubstitution - Missense
LRCH1ENSG00000136141ENST00000311191p.K415Qc.1243A>CSubstitution - Missense
GABRG3ENSG00000182256ENST00000333743p.R382Rc.1146G>ASubstitution - coding silent
CLSPNENSG00000092853ENST00000251195p.P322Sc.964C>TSubstitution - Missense
HECTD3ENSG00000126107ENST00000372172p.D419Nc.1255G>ASubstitution - Missense
DAPK2ENSG00000035664ENST00000261891p.F2Sc.5T>CSubstitution - Missense
DSC3ENSG00000134762ENST00000360428p.N629Kc.1887T>ASubstitution - Missense
CSN2ENSG00000135222ENST00000353151p.T30Tc.90A>GSubstitution - coding silent
DNAH9ENSG00000007174ENST00000262442p.S856Yc.2567C>ASubstitution - Missense
CLTCL1ENSG00000070371ENST00000263200p.A1247Dc.3740C>ASubstitution - Missense
LAMA5ENSG00000130702ENST00000252999p.A3609Sc.10825G>TSubstitution - Missense
HELZ2ENSG00000130589ENST00000467148p.H2471Hc.7413C>TSubstitution - coding silent
ANK2ENSG00000145362ENST00000357077p.D2738Dc.8214T>CSubstitution - coding silent
SPTBN5ENSG00000137877ENST00000320955p.E1008Qc.3022G>CSubstitution - Missense
ZMYM2ENSG00000121741ENST00000382869p.Y530Yc.1590T>CSubstitution - coding silent
TLN2ENSG00000171914ENST00000306829p.A1746Ac.5238C>TSubstitution - coding silent
TLE2ENSG00000065717ENST00000262953p.P315Lc.944C>TSubstitution - Missense
EVA1CENSG00000166979ENST00000300255p.S427Sc.1281T>CSubstitution - coding silent
CTAGE1ENSG00000212710ENST00000391403p.D634Dc.1902T>CSubstitution - coding silent
ENST00000357934p.P827Pc.2481G>ASubstitution - coding silent
NM_002912.1p.I518Lc.1552A>CSubstitution - Missense
NOB1ENSG00000141101ENST00000268802p.K295Kc.885A>GSubstitution - coding silent
ENST00000319396p.V414Ic.1240G>ASubstitution - Missense
SCNN1BENSG00000168447ENST00000307331p.T639Tc.1917G>ASubstitution - coding silent
ATXN3ENSG00000066427ENST00000429774p.Q298_G299insQQQQQc.862_863ins15Insertion - In frame
CACNA1BENSG00000148408ENST00000277549p.A1200Vc.3599C>TSubstitution - Missense
ESPNENSG00000187017ENST00000434576p.E121Kc.361G>ASubstitution - Missense
BCANENSG00000132692ENST00000329117p.G414Rc.1240G>ASubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.T1849Ac.5545A>GSubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.A1472Ac.4416G>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.L19885Lc.59653T>CSubstitution - coding silent
SU_SgK223p.C1156Yc.3467G>ASubstitution - Missense
ENST00000360660p.A896Ac.2688G>ASubstitution - coding silent
ENST00000346567p.T56Tc.168A>GSubstitution - coding silent
CCDC8ENSG00000169515ENST00000307522p.D98Ec.294C>ASubstitution - Missense
ZNF716ENSG00000182111ENST00000420713p.F169Ic.505T>ASubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.S123Fc.368C>TSubstitution - Missense
GPR115ENSG00000153294ENST00000371220p.P46fs*22c.134_135insCInsertion - Frameshift
CLTCL1ENSG00000070371ENST00000427926p.A1247Dc.3740C>ASubstitution - Missense
ZMIZ2ENSG00000122515ENST00000309315p.T907Tc.2721G>ASubstitution - coding silent
SRPRENSG00000182934ENST00000332118p.Q19*c.55C>TSubstitution - Nonsense
PFKMENSG00000152556ENST00000359794p.Q491Ec.1471C>GSubstitution - Missense
NBPF10ENSG00000163386ENST00000369338p.?c.989-4G>TUnknown
FNDC7ENSG00000143107ENST00000271311p.?c.925+4T>CUnknown
ENST00000271311_v71p.?c.1627+4T>CUnknown
ANKRD26ENSG00000107890ENST00000376087p.E533Qc.1597G>CSubstitution - Missense
SLC28A2ENSG00000137860ENST00000347644p.G243Sc.727G>ASubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.C1584Fc.4751G>TSubstitution - Missense
BRWD1ENSG00000185658ENST00000333229p.?c.4754-4C>TUnknown
DNM2ENSG00000079805ENST00000389253p.P195Lc.584C>TSubstitution - Missense
NFKB1ENSG00000109320ENST00000226574p.D958Hc.2872G>CSubstitution - Missense
ENTPD8ENSG00000188833ENST00000344119p.E31Ec.93G>ASubstitution - coding silent
CTNNA1ENSG00000044115ENST00000302763p.A472Ac.1416A>GSubstitution - coding silent
BMP6ENSG00000153162ENST00000283147p.G351Sc.1051G>ASubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.V3114Fc.9340G>TSubstitution - Missense
ZFP36L2ENSG00000152518ENST00000282388p.T194Tc.582C>TSubstitution - coding silent
FCN1ENSG00000085265ENST00000371806p.M148Ic.444G>CSubstitution - Missense
BAZ2BENSG00000123636ENST00000392783p.P729Pc.2187A>GSubstitution - coding silent
SHC2ENSG00000129946ENST00000264554p.?c.775-9C>TUnknown
ENST00000433144p.I244Tc.731T>CSubstitution - Missense
SORBS3ENSG00000120896ENST00000240123p.R476Cc.1426C>TSubstitution - Missense
POM121CENSG00000135213ENST00000453279p.F784Fc.2352C>TSubstitution - coding silent
CCDC15ENSG00000149548ENST00000344762p.A110Tc.328G>ASubstitution - Missense
SLKENSG00000065613ENST00000369755p.T436Tc.1308A>GSubstitution - coding silent
LTA4HENSG00000111144ENST00000228740p.?c.639-7C>AUnknown
ADALENSG00000168803ENST00000389651p.?c.552+4A>GUnknown
COLCA2ENSG00000214290ENST00000398035p.C75Yc.224G>ASubstitution - Missense
APOBENSG00000084674ENST00000233242p.Y1200*c.3600T>ASubstitution - Nonsense
GLDCENSG00000178445ENST00000321612p.L568Lc.1704C>TSubstitution - coding silent
PTCH1ENSG00000185920ENST00000331920p.A174Ac.522G>TSubstitution - coding silent
PTCH1ENSG00000185920ENST00000375274p.A173Ac.519G>TSubstitution - coding silent
ZNRF4ENSG00000105428ENST00000222033p.R400Rc.1200C>TSubstitution - coding silent
CRYBA2ENSG00000163499ENST00000392096p.G118Sc.352G>ASubstitution - Missense
ZNF682ENSG00000197124ENST00000397165p.R473fs*11c.1419_1420delAGDeletion - Frameshift
COL6A6ENSG00000206384ENST00000358511p.S1973Sc.5919C>TSubstitution - coding silent
VCANENSG00000038427ENST00000265077p.E2261delEc.6777_6779delAGADeletion - In frame
PAQR8ENSG00000170915ENST00000442253p.V266Mc.796G>ASubstitution - Missense
KIR2DL3ENSG00000243772ENST00000434419p.Y109fs*37c.325delTDeletion - Frameshift
ADTRPENSG00000111863ENST00000229583p.T2Mc.5C>TSubstitution - Missense
AIM1ENSG00000112297ENST00000535438p.M63Tc.188T>CSubstitution - Missense
ZNF131ENSG00000172262ENST00000399534p.R296Qc.887G>ASubstitution - Missense
ENST00000328843_v70p.Y3915Yc.11745T>CSubstitution - coding silent
ENST00000257665_v70p.F1026Fc.3078C>TSubstitution - coding silent
MAGEC1ENSG00000155495ENST00000285879p.Q554Rc.1661A>GSubstitution - Missense
ZMYM5ENSG00000132950ENST00000382905p.R285Qc.854G>ASubstitution - Missense
UBAC2ENSG00000134882ENST00000376440p.I144Vc.430A>GSubstitution - Missense
SERINC4ENSG00000184716ENST00000319327p.M258fs*45c.772_773insCTInsertion - Frameshift
SORCS1ENSG00000108018ENST00000263054p.E122Dc.366G>TSubstitution - Missense
BRWD1ENSG00000185658ENST00000342449p.?c.4754-4C>TUnknown
TRPM2ENSG00000142185ENST00000397928p.E1149*c.3445G>TSubstitution - Nonsense
KIR2DL3ENSG00000243772ENST00000342376p.Y109fs*37c.325delTDeletion - Frameshift
TAS2R5ENSG00000127366ENST00000247883p.T108Mc.323C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.L26257Lc.78769T>CSubstitution - coding silent
GGTLC1ENSG00000149435ENST00000335694p.P105Pc.315G>ASubstitution - coding silent
PCNTENSG00000160299ENST00000359568p.S2548Sc.7644C>TSubstitution - coding silent
STT3BENSG00000163527ENST00000295770p.G46Sc.136G>ASubstitution - Missense
ADH6ENSG00000172955ENST00000394899p.T103Nc.308C>ASubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.Y3915Yc.11745T>CSubstitution - coding silent
ANKRD50ENSG00000151458ENST00000504087p.G1280Vc.3839G>TSubstitution - Missense
ZC3H4ENSG00000130749ENST00000253048p.A1284Vc.3851C>TSubstitution - Missense
GGT1ENSG00000100031ENST00000400380p.V18Lc.52G>CSubstitution - Missense
KRT33BENSG00000131738ENST00000251646p.C26Yc.77G>ASubstitution - Missense
TIE1ENSG00000066056ENST00000538015p.?c.485-10T>CUnknown
FGD2ENSG00000146192ENST00000274963p.D502Nc.1504G>ASubstitution - Missense
ATP2A3ENSG00000074370ENST00000359983p.F455Fc.1365C>TSubstitution - coding silent
TAF5LENSG00000135801ENST00000258281p.S277Sc.831C>TSubstitution - coding silent
ENST00000263762p.V102Mc.304G>ASubstitution - Missense
ACSM5ENSG00000183549ENST00000331849p.R222fs*40c.663delTDeletion - Frameshift
TMED2ENSG00000086598ENST00000262225p.L11Lc.31C>TSubstitution - coding silent
PLECENSG00000178209ENST00000436759p.E664Kc.1990G>ASubstitution - Missense
TNIP3ENSG00000050730ENST00000057513p.G316Gc.948T>ASubstitution - coding silent
ENST00000373468p.R1121Wc.3361C>TSubstitution - Missense
ZNF716ENSG00000182111ENST00000420713p.N313fs*15c.939_1189del251Deletion - Frameshift
ECI2ENSG00000198721ENST00000380118p.E350fs*14c.1049_1050delAGDeletion - Frameshift
SEPSECSENSG00000109618ENST00000302922p.T297Tc.891A>GSubstitution - coding silent
PDSS2ENSG00000164494ENST00000369031p.A229Vc.686C>TSubstitution - Missense
WDR87ENSG00000171804ENST00000447313p.K1334Kc.4002G>ASubstitution - coding silent
NLRP1ENSG00000091592ENST00000262467p.K641Nc.1923G>TSubstitution - Missense
MAGEC1ENSG00000155495ENST00000285879p.Q554fs*92c.1661_1662delAGDeletion - Frameshift
ABCB6ENSG00000115657ENST00000265316p.Y599Cc.1796A>GSubstitution - Missense
FAM111AENSG00000166801ENST00000528737p.R209Cc.625C>TSubstitution - Missense
TPTEENSG00000166157ENST00000298232p.S526Gc.1576A>GSubstitution - Missense
ENST00000377325_v70p.R392*c.1174C>TSubstitution - Nonsense
PPLENSG00000118898ENST00000345988p.Q1353Qc.4059G>ASubstitution - coding silent
C2CD3ENSG00000168014ENST00000313663p.D1575Hc.4723G>CSubstitution - Missense
C2CD3ENSG00000168014ENST00000334126p.D1575Hc.4723G>CSubstitution - Missense
PRDM10ENSG00000170325ENST00000360871p.R550Qc.1649G>ASubstitution - Missense
IGF1RENSG00000140443ENST00000268035p.P190Pc.570G>TSubstitution - coding silent
MMP7ENSG00000137673ENST00000260227p.W32*c.95G>ASubstitution - Nonsense
IGSF3ENSG00000143061ENST00000369486p.V469Mc.1405G>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369354p.L411Sc.1232T>CSubstitution - Missense
USP26ENSG00000134588ENST00000370832p.L345Lc.1033C>TSubstitution - coding silent
ENST00000356127p.C4883Gc.14647T>GSubstitution - Missense
TMEM127ENSG00000135956ENST00000258439p.P77Lc.230C>TSubstitution - Missense
BANK1ENSG00000153064ENST00000322953p.S175Sc.525T>GSubstitution - coding silent
KLHL30ENSG00000168427ENST00000409223p.F162Sc.485T>CSubstitution - Missense
DUSP9ENSG00000130829ENST00000370167p.I273Ic.819T>CSubstitution - coding silent
GRM4ENSG00000124493ENST00000374181p.A471Ac.1413G>ASubstitution - coding silent
CCDC163PENSG00000236624ENST00000488405p.P31Lc.92C>TSubstitution - Missense
ACANENSG00000157766ENST00000439576p.P1582Lc.4745C>TSubstitution - Missense
PFKMENSG00000152556ENST00000340802p.Q562Ec.1684C>GSubstitution - Missense
SLC30A8ENSG00000164756ENST00000456015p.A320Sc.958G>TSubstitution - Missense
FDFT1ENSG00000079459ENST00000220584p.Q406Qc.1218G>ASubstitution - coding silent
IKBKAPENSG00000070061ENST00000374647p.S1171Sc.3513T>CSubstitution - coding silent
TBPL1ENSG00000028839ENST00000237264p.?c.136-9T>CUnknown
HIVEP1ENSG00000095951ENST00000379388p.T2415Tc.7245G>ASubstitution - coding silent
UNC45BENSG00000141161ENST00000394570p.E194Ec.582G>ASubstitution - coding silent
NLRP1ENSG00000091592ENST00000572272p.K641Nc.1923G>TSubstitution - Missense
LIN37ENSG00000267796ENST00000301159p.A59Tc.175G>ASubstitution - Missense
WDR87ENSG00000171804ENST00000303868p.K1295Kc.3885G>ASubstitution - coding silent
HKR1ENSG00000181666ENST00000324411p.Y154*c.462T>GSubstitution - Nonsense
OBP2BENSG00000171102ENST00000372034p.G27Rc.79G>ASubstitution - Missense
GPSM1ENSG00000160360ENST00000354753p.L599Pc.1796T>CSubstitution - Missense
SPATA31E1ENSG00000177992ENST00000325643p.Q362*c.1084C>TSubstitution - Nonsense
C5orf54ENSG00000221886ENST00000408953p.P70Ac.208C>GSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S123Fc.368C>TSubstitution - Missense
ENST00000539307p.S160Fc.479C>TSubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.P511Pc.1533A>TSubstitution - coding silent
HLA-BENSG00000234745ENST00000412585p.S48Tc.142T>ASubstitution - Missense
CNTNAP2ENSG00000174469ENST00000361727p.K540Nc.1620G>CSubstitution - Missense
VSTM2AENSG00000170419ENST00000407838p.S24Tc.70T>ASubstitution - Missense
TNRC18ENSG00000182095ENST00000430969p.?c.8701-6C>TUnknown
TNRC18ENSG00000182095ENST00000430969p.?c.8701-6C>TUnknown
RP1L1ENSG00000183638ENST00000382483p.P109fs*29c.324_325insTInsertion - Frameshift
ENST00000316490p.E2814Qc.8440G>CSubstitution - Missense
ENST00000309900p.E420Qc.1258G>CSubstitution - Missense
ENST00000316490_v65p.R4124Hc.12371G>ASubstitution - Missense
ENST00000316490p.R4076Hc.12227G>ASubstitution - Missense
ENST00000316490_v65p.V1306Lc.3916G>TSubstitution - Missense
ENST00000316490p.V1258Lc.3772G>TSubstitution - Missense
SCNN1BENSG00000168447ENST00000343070p.T594Tc.1782G>ASubstitution - coding silent
WIZENSG00000011451ENST00000263381p.T127Tc.381C>TSubstitution - coding silent
WIZENSG00000011451ENST00000389282p.T816Tc.2448C>TSubstitution - coding silent
SLC2A10ENSG00000197496ENST00000359271p.L467Lc.1401C>TSubstitution - coding silent
OCSTAMPENSG00000149635ENST00000279028p.V322Gc.965T>GSubstitution - Missense
RESTENSG00000084093ENST00000309042p.A673Vc.2018C>TSubstitution - Missense
NSMCE2ENSG00000156831ENST00000287437p.R73Wc.217C>TSubstitution - Missense
CDK5RAP2ENSG00000136861ENST00000349780p.A378Ac.1134C>TSubstitution - coding silent
TNCENSG00000041982ENST00000350763p.R322Qc.965G>ASubstitution - Missense
ORM1ENSG00000229314ENST00000538816p.G67Ac.200G>CSubstitution - Missense
AKNAENSG00000106948ENST00000307564p.A1355Tc.4063G>ASubstitution - Missense
SLC45A4ENSG00000022567ENST00000024061p.A782Tc.2344G>ASubstitution - Missense
ENSG00000215428ENST00000277491p.P83Pc.249G>ASubstitution - coding silent
PARLENSG00000175193ENST00000317096p.?c.126-3940_322-150del5086Unknown
TENM3ENSG00000218336ENST00000511685p.R1380Wc.4138C>TSubstitution - Missense
MFAP3LENSG00000198948ENST00000361618p.L246Lc.738C>TSubstitution - coding silent
ZNF131ENSG00000172262ENST00000306938p.R262Qc.785G>ASubstitution - Missense
KIAA0947ENSG00000164151ENST00000296564p.A389Sc.1165G>TSubstitution - Missense
GRM4ENSG00000124493ENST00000374181p.A471Ac.1413G>ASubstitution - coding silent
GRM4ENSG00000124493ENST00000374177p.A355Ac.1065G>ASubstitution - coding silent
RGL2ENSG00000237441ENST00000497454p.R650Cc.1948C>TSubstitution - Missense
PKHD1ENSG00000170927ENST00000371117p.P4067Pc.12201G>ASubstitution - coding silent
PLA2G7ENSG00000146070ENST00000274793p.H32Hc.96T>CSubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.K132Rc.395A>GSubstitution - Missense
ASXL1ENSG00000171456ENST00000306058p.R688*c.2062C>TSubstitution - Nonsense
CAMSAP2ENSG00000118200ENST00000236925p.R965Hc.2894G>ASubstitution - Missense
DOCK7ENSG00000116641ENST00000251157p.V1482Lc.4444G>CSubstitution - Missense
STRA6ENSG00000137868ENST00000563965p.?c.523+5C>TUnknown
HKR1ENSG00000181666ENST00000392153p.Y135*c.405T>GSubstitution - Nonsense
ENST00000262870p.G256Gc.768G>ASubstitution - coding silent
POLR1BENSG00000125630ENST00000541869p.M400Vc.1198A>GSubstitution - Missense
OBSL1ENSG00000124006ENST00000373873p.R284Hc.851G>ASubstitution - Missense
ATXN3ENSG00000066427ENST00000532032p.Q305_G306insQQQQQc.883_884ins15Insertion - In frame
RGS12ENSG00000159788ENST00000338806p.A666Tc.1996G>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.N1545delNc.4633_4635delAACDeletion - In frame
PSD3ENSG00000156011ENST00000327040p.A1003Tc.3007G>ASubstitution - Missense
DYMENSG00000141627ENST00000269445p.R305Rc.915A>GSubstitution - coding silent
GGTLC1ENSG00000149435ENST00000278765p.P105Pc.315G>ASubstitution - coding silent
CTAGE1ENSG00000212710ENST00000391403p.T656Ac.1966A>GSubstitution - Missense
CTAGE1ENSG00000212710ENST00000391403p.T656Ac.1966A>GSubstitution - Missense
CTAGE1ENSG00000212710ENST00000391403p.D634Dc.1902T>CSubstitution - coding silent
GAD1ENSG00000128683ENST00000375272p.G194Gc.582A>GSubstitution - coding silent
TUBA8ENSG00000183785ENST00000330423p.?c.1057-10T>AUnknown
POTEHENSG00000198062ENST00000343518p.P168Lc.503C>TSubstitution - Missense
ENST00000356127p.L26255Lc.78763T>CSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.L19952Lc.59854T>CSubstitution - coding silent
NM_003319p.L19760Lc.59278T>CSubstitution - coding silent
DPEP1ENSG00000015413ENST00000261615p.M111Lc.331A>CSubstitution - Missense
ANKRD11ENSG00000167522ENST00000301030p.P1144Lc.3431C>TSubstitution - Missense
LIPIENSG00000188992ENST00000344577p.T357Tc.1071C>TSubstitution - coding silent
SMTNENSG00000183963ENST00000358743p.E628Qc.1882G>CSubstitution - Missense
ENST00000404496p.E651Qc.1951G>CSubstitution - Missense
HEATR5BENSG00000008869ENST00000233099p.V1431Vc.4293G>ASubstitution - coding silent
FGFRL1ENSG00000127418ENST00000398484p.R424Hc.1271G>ASubstitution - Missense
ADH6ENSG00000172955ENST00000237653p.T103Nc.308C>ASubstitution - Missense
SHANK3ENSG00000251322ENST00000262795p.S486Sc.1458C>TSubstitution - coding silent
UXS1ENSG00000115652ENST00000283148p.F42Vc.124T>GSubstitution - Missense
IL22RA2ENSG00000164485ENST00000296980p.Q253Rc.758A>GSubstitution - Missense
ADGBENSG00000118492ENST00000397944p.Y734Yc.2202T>CSubstitution - coding silent
HOXA11ENSG00000005073ENST00000006015p.P97_A99delPSAc.289_297delCCCAGCGCGDeletion - In frame
YY2ENSG00000230797ENST00000429584p.A125Vc.374C>TSubstitution - Missense
SNTG2ENSG00000172554ENST00000308624p.G251Rc.751G>ASubstitution - Missense
POLR1BENSG00000125630ENST00000263331p.M362Vc.1084A>GSubstitution - Missense
SLC4A3ENSG00000114923ENST00000273063p.A695Vc.2084C>TSubstitution - Missense
OBSL1ENSG00000124006ENST00000404537p.R284Hc.851G>ASubstitution - Missense
SU_SPEGp.E2305Ec.6915G>ASubstitution - coding silent
RNF25ENSG00000163481ENST00000295704p.R412Cc.1234C>TSubstitution - Missense
ZNF142ENSG00000115568ENST00000411696p.V1004Ac.3011T>CSubstitution - Missense
ENST00000396788p.V841Ac.2522T>CSubstitution - Missense
KLHL30ENSG00000168427ENST00000409223p.F162Sc.485T>CSubstitution - Missense
CCDC37ENSG00000163885ENST00000352312p.?c.486+10G>AUnknown
ENST00000358511_v70p.S1973Sc.5919C>TSubstitution - coding silent
NCAPH2ENSG00000025770ENST00000299821p.N475Dc.1423A>GSubstitution - Missense
ZBED4ENSG00000100426ENST00000216268p.R935Cc.2803C>TSubstitution - Missense
FBXO24ENSG00000106336ENST00000241071p.T165Pc.493A>CSubstitution - Missense
ENST00000304917p.P126Sc.376C>TSubstitution - Missense
ZNF138ENSG00000197008ENST00000440155p.?c.3+2T>CUnknown
ZNF716ENSG00000182111ENST00000420713p.N313fs*15c.936_937insAInsertion - Frameshift
ZNF716ENSG00000182111ENST00000420713p.N313fs*15c.939_1189del251Deletion - Frameshift
ZNF716ENSG00000182111ENST00000420713p.N313fs*15c.936_937insAInsertion - Frameshift
CACNA1BENSG00000148408ENST00000371372p.A2006Vc.6017C>TSubstitution - Missense
RELBENSG00000104856ENST00000221452p.P542Lc.1625C>TSubstitution - Missense
EXOC3L2ENSG00000130201ENST00000252482p.S149Nc.446G>ASubstitution - Missense
ZNF714ENSG00000160352ENST00000291770p.T159Tc.477C>TSubstitution - coding silent
ZNF714ENSG00000160352ENST00000291770p.T54Tc.162C>TSubstitution - coding silent
ZC3H4ENSG00000130749ENST00000253048p.P676Pc.2028T>CSubstitution - coding silent
TIGD4ENSG00000169989ENST00000304337p.R96Rc.288A>GSubstitution - coding silent
CCDC110ENSG00000168491ENST00000307588p.R765Qc.2294G>ASubstitution - Missense
SEPSECSENSG00000109618ENST00000382103p.T376Tc.1128A>GSubstitution - coding silent
PRDM13ENSG00000112238ENST00000369215p.K585Nc.1755G>CSubstitution - Missense
ENST00000330758p.T74Ac.220A>GSubstitution - Missense
KCNG2ENSG00000178342ENST00000316249p.T369Tc.1107C>TSubstitution - coding silent
MICAL1ENSG00000135596ENST00000358807p.L682fs*1c.2044delCDeletion - Frameshift
ADTRPENSG00000111863ENST00000414691p.T2Mc.5C>TSubstitution - Missense
TUBE1ENSG00000074935ENST00000368662p.?c.1270-6T>AUnknown
KHDC3LENSG00000203908ENST00000370367p.R158_Q180del23c.456_524del69Deletion - In frame
RREB1ENSG00000124782ENST00000379938p.P698Pc.2094C>TSubstitution - coding silent
KHDRBS2ENSG00000112232ENST00000281156p.A232Vc.695C>TSubstitution - Missense
DSTENSG00000151914ENST00000370765p.R2308Gc.6922C>GSubstitution - Missense
CGNENSG00000143375ENST00000271636p.?c.2742+1G>AUnknown
ADALENSG00000168803ENST00000428046p.?c.552+4A>GUnknown
KAZNENSG00000189337ENST00000361144p.T210Tc.630A>GSubstitution - coding silent
KAZNENSG00000189337ENST00000376030p.T216Tc.648A>GSubstitution - coding silent
IGFN1ENSG00000163395ENST00000335211p.A3389Ac.10167C>ASubstitution - coding silent
DTWD1ENSG00000104047ENST00000403028p.F257Cc.770T>GSubstitution - Missense
UBXN10ENSG00000162543ENST00000375099p.S41_A42insHMIRPKSc.123_124ins21Insertion - In frame
GCNT3ENSG00000140297ENST00000396065p.K283Kc.849G>ASubstitution - coding silent
RAB27AENSG00000069974ENST00000396307p.T30Tc.90A>GSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313382p.L477Sc.1430T>CSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313431p.L574Sc.1721T>CSubstitution - Missense
SLC44A5ENSG00000137968ENST00000370855p.?c.1086-3C>AUnknown
ESPNENSG00000187017ENST00000377828p.E777Ec.2331G>ASubstitution - coding silent
GPHB5ENSG00000179600ENST00000314140p.V102Vc.306C>TSubstitution - coding silent
ENST00000314140_v61p.V102Vc.306C>TSubstitution - coding silent
SERPINA6ENSG00000170099ENST00000341584p.A399Ec.1196C>ASubstitution - Missense
SERPINA6ENSG00000170099ENST00000341584p.A399Ec.1196C>ASubstitution - Missense
ATXN3ENSG00000066427ENST00000393287p.Q305_G306insQQQQQc.883_884ins15Insertion - In frame
HFM1ENSG00000162669ENST00000370425p.R421Hc.1262G>ASubstitution - Missense
ATP11AENSG00000068650ENST00000375645p.?c.2522-7C>TUnknown
CARS2ENSG00000134905ENST00000257347p.I353Ic.1059C>TSubstitution - coding silent
ENST00000456228p.?c.3038-4T>GUnknown
ZMYM2ENSG00000121741ENST00000382869p.?c.3038-4T>GUnknown
ENST00000456228p.Y530Yc.1590T>CSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.C4883Gc.14647T>GSubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.C1584Fc.4751G>TSubstitution - Missense
PCMTD1ENSG00000168300ENST00000360540p.V291Lc.871G>TSubstitution - Missense
ST18ENSG00000147488ENST00000276480p.R544Lc.1631G>TSubstitution - Missense
ENST00000320400p.Q355Rc.1064A>GSubstitution - Missense
ARHGEF18ENSG00000104880ENST00000359920p.C460Rc.1378T>CSubstitution - Missense
ARHGEF18ENSG00000104880ENST00000319670p.C302Rc.904T>CSubstitution - Missense
PTCH1ENSG00000185920ENST00000375274p.A173Ac.519G>TSubstitution - coding silent
RPH3ALENSG00000181031ENST00000331302p.R75Lc.224G>TSubstitution - Missense
KCTD15ENSG00000153885ENST00000284006p.T15Ic.44C>TSubstitution - Missense
ZNF99ENSG00000213973ENST00000397104p.K400Qc.1198A>CSubstitution - Missense
LENG9ENSG00000182909ENST00000333834p.R297Cc.889C>TSubstitution - Missense
CDS2ENSG00000101290ENST00000460006p.N426Sc.1277A>GSubstitution - Missense
TAF1LENSG00000122728ENST00000242310p.G1287Cc.3859G>TSubstitution - Missense
ZFAND5ENSG00000107372ENST00000343431p.?c.494-4A>GUnknown
PTPRGENSG00000144724ENST00000474889p.E1219Ac.3656A>CSubstitution - Missense
TBC1D2ENSG00000095383ENST00000375066p.Q660Hc.1980G>CSubstitution - Missense
TBC1D2ENSG00000095383ENST00000375063p.Q200Hc.600G>CSubstitution - Missense
DSC3ENSG00000134762ENST00000434452p.N629Kc.1887T>ASubstitution - Missense
DOCK6ENSG00000130158ENST00000319867p.D1798Nc.5392G>ASubstitution - Missense
DNM2ENSG00000079805ENST00000359692p.P195Lc.584C>TSubstitution - Missense
KRI1ENSG00000129347ENST00000312962p.D626Dc.1878T>CSubstitution - coding silent
PDXKENSG00000160209ENST00000291565p.L108Lc.324G>CSubstitution - coding silent
PDXKENSG00000160209ENST00000291565p.L108Lc.324G>CSubstitution - coding silent
FRG2CENSG00000172969ENST00000308062p.P8Tc.22C>ASubstitution - Missense
RGS12ENSG00000159788ENST00000344733p.T561Tc.1683C>TSubstitution - coding silent
RGS12ENSG00000159788ENST00000344733p.A1314Tc.3940G>ASubstitution - Missense
HTTENSG00000197386ENST00000355072p.P2804Pc.8412G>ASubstitution - coding silent
ENST00000341755p.V251Ic.751G>ASubstitution - Missense
TECENSG00000135605ENST00000381501p.V465Lc.1393G>CSubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.R3384Cc.10150C>TSubstitution - Missense
ENST00000273600p.R3448Cc.10342C>TSubstitution - Missense
ANKIB1ENSG00000001629ENST00000265742p.R105Cc.313C>TSubstitution - Missense
BRI3ENSG00000164713ENST00000297290p.I99_I100insFLAIc.281_282ins12Insertion - In frame
SU_Erk7p.R281*c.841C>TSubstitution - Nonsense
PLECENSG00000178209ENST00000354958p.E615Kc.1843G>ASubstitution - Missense
ENSG00000182319ENST00000330777p.C1154Yc.3461G>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.N1590delNc.4768_4770delAACDeletion - In frame
JPH1ENSG00000104369ENST00000342232p.A388Ac.1164C>TSubstitution - coding silent
PSD3ENSG00000156011ENST00000286485p.A469Tc.1405G>ASubstitution - Missense
ASXL1ENSG00000171456ENST00000375687p.R693*c.2077C>TSubstitution - Nonsense
TP53ENSG00000141510ENST00000269305p.K132Rc.395A>GSubstitution - Missense
TIAM2ENSG00000146426ENST00000318981p.R300Wc.898C>TSubstitution - Missense
ZMYM5ENSG00000132950ENST00000337963p.R285Qc.854G>ASubstitution - Missense
TP53ENSG00000141510ENST00000413465p.K132Rc.395A>GSubstitution - Missense
ENST00000545858p.K39Rc.116A>GSubstitution - Missense
TRPM2ENSG00000142185ENST00000397928p.A1496Ac.4488C>TSubstitution - coding silent
NM_183049.1p.D6Yc.16G>TSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.K132Rc.395A>GSubstitution - Missense
MEGF11ENSG00000157890ENST00000409699p.G430Ec.1289G>ASubstitution - Missense
MEGF11ENSG00000157890ENST00000395625p.G355Ec.1064G>ASubstitution - Missense
KHDC3LENSG00000203908ENST00000370367p.V174Vc.522G>CSubstitution - coding silent
KHDC3LENSG00000203908ENST00000370367p.Q175Rc.524A>GSubstitution - Missense
CENPFENSG00000117724ENST00000366955p.N287Sc.860A>GSubstitution - Missense
AMHR2ENSG00000135409ENST00000257863p.W65Gc.193T>GSubstitution - Missense
STRA6ENSG00000137868ENST00000395105p.?c.406+5C>TUnknown
LRCH1ENSG00000136141ENST00000389798p.K415Qc.1243A>CSubstitution - Missense
ENST00000317013p.V46Vc.138C>TSubstitution - coding silent
SORL1ENSG00000137642ENST00000260197p.A1311Sc.3931G>TSubstitution - Missense
HEPACAMENSG00000165478ENST00000298251p.S239Sc.717C>TSubstitution - coding silent
STAT6ENSG00000166888ENST00000300134p.F718Fc.2154C>TSubstitution - coding silent
GPR182ENSG00000166856ENST00000300098p.R84Rc.252G>ASubstitution - coding silent
SLC2A3ENSG00000059804ENST00000075120p.H425Yc.1273C>TSubstitution - Missense
SIPA1L2ENSG00000116991ENST00000366630p.G61Sc.181G>ASubstitution - Missense
TAF5LENSG00000135801ENST00000366675p.S277Sc.831C>TSubstitution - coding silent
NOC4LENSG00000184967ENST00000330579p.F354Lc.1062C>ASubstitution - Missense
TARBP1ENSG00000059588ENST00000040877p.?c.932-5A>GUnknown
GYS2ENSG00000111713ENST00000261195p.D418Nc.1252G>ASubstitution - Missense
CACNA2D4ENSG00000151062ENST00000382722p.L230Lc.690G>ASubstitution - coding silent
CACNA2D4ENSG00000151062ENST00000382722p.L230Lc.690G>ASubstitution - coding silent
ZFAND6ENSG00000086666ENST00000261749p.V168Ic.502G>ASubstitution - Missense
ENST00000268134p.P1582Lc.4745C>TSubstitution - Missense
ADCY4ENSG00000129467ENST00000310677p.?c.669+8G>AUnknown
RNF31ENSG00000092098ENST00000324103p.Y530Yc.1590C>TSubstitution - coding silent
SLC7A8ENSG00000092068ENST00000316902p.G241Ac.722G>CSubstitution - Missense
TOX4ENSG00000092203ENST00000262709p.A526Gc.1577C>GSubstitution - Missense
CDHR5ENSG00000099834ENST00000358353p.R365Cc.1093C>TSubstitution - Missense
LRP5ENSG00000162337ENST00000294304p.D1291Dc.3873C>TSubstitution - coding silent
GALEENSG00000117308ENST00000374497p.?c.988+7G>AUnknown
AHCTF1ENSG00000153207ENST00000391829p.G563Gc.1689T>GSubstitution - coding silent
PDZD7ENSG00000186862ENST00000370215p.K449delKc.1345_1347delAAGDeletion - In frame
MUC19ENSG00000205592ENST00000425730p.R1113Wc.3337C>TSubstitution - Missense
MUC19ENSG00000205592ENST00000425730p.H242Lc.725A>TSubstitution - Missense
NM_031277.1p.E191Qc.571G>CSubstitution - Missense
BSDC1ENSG00000160058ENST00000446293p.?c.728-8C>TUnknown
ENST00000563027_v68p.S553Fc.1658C>TSubstitution - Missense
SAA1ENSG00000173432ENST00000356524p.?c.91+10C>AUnknown
LDHAENSG00000134333ENST00000540430p.?c.797+9T>AUnknown
RNF214ENSG00000167257ENST00000531452p.L160Lc.480A>GSubstitution - coding silent
C2CD2LENSG00000172375ENST00000336702p.R212Hc.635G>ASubstitution - Missense
PSMD13ENSG00000185627ENST00000532097p.K329Qc.985A>CSubstitution - Missense
SLC17A6ENSG00000091664ENST00000263160p.I286Tc.857T>CSubstitution - Missense
FNDC7ENSG00000143107ENST00000370017p.?c.1624+4T>CUnknown
GPR89AENSG00000117262ENST00000313835p.S8fs*21c.21_28delCAGCATCADeletion - Frameshift
NBPF10ENSG00000163386ENST00000342960p.?c.1802-4G>TUnknown
STOX1ENSG00000165730ENST00000399169p.M786Tc.2357T>CSubstitution - Missense
JMJD1CENSG00000171988ENST00000399262p.N1765Nc.5295C>TSubstitution - coding silent
SLC22A8ENSG00000149452ENST00000336232p.I175Vc.523A>GSubstitution - Missense
MANEALENSG00000185090ENST00000329006p.F31Lc.91T>CSubstitution - Missense
TIE1ENSG00000066056ENST00000372476p.?c.485-10T>CUnknown
NM_024602.4p.D135Nc.403G>ASubstitution - Missense
HECTD3ENSG00000126107ENST00000372168p.D29Nc.85G>ASubstitution - Missense
VPS13DENSG00000048707ENST00000358136p.A873Gc.2618C>GSubstitution - Missense
TCHHENSG00000159450ENST00000368804p.E132delEc.394_396delGAADeletion - In frame


COSMIC

0 mutations reported
0 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID