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CA-46 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

771 mutations reported
287 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
TP53ENSG00000141510ENST00000413465p.R248Qc.743G>ASubstitution - Missense
EGFRENSG00000146648ENST00000275493p.T725Tc.2175G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.R248Qc.743G>ASubstitution - Missense
NM_006105.3p.N592Nc.1776C>TSubstitution - coding silent
KIAA1033ENSG00000136051ENST00000332180p.S494Sc.1482C>TSubstitution - coding silent
TDGENSG00000139372ENST00000392872p.N361Dc.1081A>GSubstitution - Missense
CNTN5ENSG00000149972ENST00000528682p.Y77*c.231T>ASubstitution - Nonsense
INAENSG00000148798ENST00000369849p.S415Sc.1245G>ASubstitution - coding silent
SHANK2ENSG00000162105ENST00000294018p.T230Tc.690G>ASubstitution - coding silent
SHANK2ENSG00000162105ENST00000338508p.T826Tc.2478G>ASubstitution - coding silent
SHANK2ENSG00000162105ENST00000357171p.T237Tc.711G>ASubstitution - coding silent
DHRS1ENSG00000157379ENST00000396813p.R261Cc.781C>TSubstitution - Missense
DHRS1ENSG00000157379ENST00000396813p.Q57Qc.171A>GSubstitution - coding silent
MYH7ENSG00000092054ENST00000355349p.?c.345+6T>GUnknown
SALL2ENSG00000165821ENST00000327430p.T616Ac.1846A>GSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.V2506Lc.7516G>CSubstitution - Missense
ZNF839ENSG00000022976ENST00000442396p.K887Kc.2661G>ASubstitution - coding silent
ANKLE2ENSG00000176915ENST00000357997p.R508Gc.1522C>GSubstitution - Missense
GOLGA3ENSG00000090615ENST00000204726p.P218Sc.652C>TSubstitution - Missense
GOLGA3ENSG00000090615ENST00000545875p.P218Sc.652C>TSubstitution - Missense
GOLGA3ENSG00000090615ENST00000456883p.P218Sc.652C>TSubstitution - Missense
NM_014903.3p.S604Gc.1810A>GSubstitution - Missense
ENST00000328408p.V63Ic.187G>ASubstitution - Missense
PHF21AENSG00000135365ENST00000418153p.C503Cc.1509C>TSubstitution - coding silent
PHF21AENSG00000135365ENST00000323180p.C457Cc.1371C>TSubstitution - coding silent
MUC5BENSG00000117983ENST00000529681p.E4173Kc.12517G>ASubstitution - Missense
ROBO3ENSG00000154134ENST00000397801p.?c.646-10T>GUnknown
CNTN5ENSG00000149972ENST00000524871p.S886Gc.2656A>GSubstitution - Missense
CNTN5ENSG00000149972ENST00000528682p.S886Gc.2656A>GSubstitution - Missense
TBC1D12ENSG00000108239ENST00000225235p.K548Kc.1644G>ASubstitution - coding silent
TCTN3ENSG00000119977ENST00000265993p.S206Pc.616T>CSubstitution - Missense
ENST00000343162p.S55Pc.163T>CSubstitution - Missense
ENST00000328974p.?c.278-5T>CUnknown
OBSCNENSG00000154358ENST00000570156p.G2097Gc.6291C>TSubstitution - coding silent
SU_OBSCN.1p.G1913Gc.5739C>TSubstitution - coding silent
IBA57ENSG00000181873ENST00000366711p.G292Ac.875G>CSubstitution - Missense
RETENSG00000165731ENST00000340058p.A680Tc.2038G>ASubstitution - Missense
ENSG00000150076ENST00000302316p.K377Kc.1131G>ASubstitution - coding silent
ZNF25ENSG00000175395ENST00000302609p.P341Rc.1022C>GSubstitution - Missense
SVILENSG00000197321ENST00000355867p.S212Rc.636T>ASubstitution - Missense
TRMT13ENSG00000122435ENST00000370141p.Y455Yc.1365T>CSubstitution - coding silent
OAS1ENSG00000089127ENST00000452357p.P301fs*27c.900delCDeletion - Frameshift
NAA25ENSG00000111300ENST00000261745p.V720Ic.2158G>ASubstitution - Missense
LECT1ENSG00000136110ENST00000377962p.R124Cc.370C>TSubstitution - Missense
AAASENSG00000094914ENST00000209873p.R191Wc.571C>TSubstitution - Missense
USH2AENSG00000042781ENST00000307340p.C934Wc.2802T>GSubstitution - Missense
FAM19A4ENSG00000163377ENST00000295569p.S3Fc.8C>TSubstitution - Missense
TRIM9ENSG00000100505ENST00000360392p.T411Tc.1233G>ASubstitution - coding silent
PHAXENSG00000164902ENST00000297540p.A223Vc.668C>TSubstitution - Missense
SLFN11ENSG00000172716ENST00000394566p.R651Qc.1952G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.H17106Hc.51318T>CSubstitution - coding silent
ENST00000356127p.H23476Hc.70428T>CSubstitution - coding silent
NM_003319p.H16981Hc.50943T>CSubstitution - coding silent
ENST00000393689p.?c.385-8delcUnknown
PHLDB2ENSG00000144824ENST00000412622p.A199Tc.595G>ASubstitution - Missense
ID3ENSG00000117318ENST00000374561p.L64Fc.190C>TSubstitution - Missense
MRPL4ENSG00000105364ENST00000307422p.P227Sc.679C>TSubstitution - Missense
MYCENSG00000136997ENST00000377970p.V20Ic.58G>ASubstitution - Missense
NM_002467.2p.V5Ic.13G>ASubstitution - Missense
DSG3ENSG00000134757ENST00000257189p.R275Hc.824G>ASubstitution - Missense
MYOFENSG00000138119ENST00000359263p.I2019Ic.6057C>TSubstitution - coding silent
MYO7BENSG00000169994ENST00000428314p.T1567Kc.4700C>ASubstitution - Missense
ENST00000272666p.T1810Kc.5429C>ASubstitution - Missense
CHRNB4ENSG00000117971ENST00000261751p.G261Sc.781G>ASubstitution - Missense
DENND2AENSG00000146966ENST00000275884p.V250Mc.748G>ASubstitution - Missense
FAM47BENSG00000189132ENST00000329357p.R393Qc.1178G>ASubstitution - Missense
SCN11AENSG00000168356ENST00000302328p.L650Fc.1948C>TSubstitution - Missense
CRYGDENSG00000118231ENST00000264376p.Y63Yc.189T>CSubstitution - coding silent
CD93ENSG00000125810ENST00000246006p.S517Gc.1549A>GSubstitution - Missense
KIF16BENSG00000089177ENST00000408042p.?c.1475-6C>TUnknown
KIF16BENSG00000089177ENST00000354981p.?c.1475-6C>TUnknown
ZNF177ENSG00000188629ENST00000434737p.L30*c.89T>ASubstitution - Nonsense
ZNF177ENSG00000188629ENST00000343499p.L30*c.89T>ASubstitution - Nonsense
EPN3ENSG00000049283ENST00000268933p.P341Tc.1021C>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S5053Sc.15159C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.S5053Sc.15159C>TSubstitution - coding silent
ENST00000331986p.S686Sc.2058C>TSubstitution - coding silent
FMNL1ENSG00000184922ENST00000331495p.K979Rc.2936A>GSubstitution - Missense
SLC38A8ENSG00000166558ENST00000299709p.?c.691-5T>CUnknown
GBP6ENSG00000183347ENST00000370456p.C310Cc.930T>CSubstitution - coding silent
BCL10ENSG00000142867ENST00000370580p.R232Qc.695G>ASubstitution - Missense
PIGKENSG00000142892ENST00000370812p.?c.240-7T>CUnknown
NPHP4ENSG00000131697ENST00000378156p.?c.674-10A>GUnknown
CHD5ENSG00000116254ENST00000262450p.G977Gc.2931G>ASubstitution - coding silent
PPP1R8ENSG00000117751ENST00000311772p.I287Ic.861C>TSubstitution - coding silent
MYSM1ENSG00000162601ENST00000472487p.P760Lc.2279C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313382p.R98Sc.292C>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369348p.R169Sc.505C>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369348p.Q112Qc.336G>ASubstitution - coding silent
NOTCH2NLENSG00000213240ENST00000344859p.Q63Qc.189G>ASubstitution - coding silent
RFX7ENSG00000181827ENST00000317318p.S676*c.2027C>ASubstitution - Nonsense
MYO5CENSG00000128833ENST00000261839p.Q1184Rc.3551A>GSubstitution - Missense
PKP1ENSG00000081277ENST00000367324p.G711Ec.2132G>ASubstitution - Missense
C2CD5ENSG00000111731ENST00000544930p.S848Lc.2543C>TSubstitution - Missense
LYRM5ENSG00000205707ENST00000381356p.G9delGc.23_25delGAGDeletion - In frame
NID2ENSG00000087303ENST00000216286p.R224Wc.670C>TSubstitution - Missense
MROH7ENSG00000184313ENST00000421030p.N586Nc.1758T>CSubstitution - coding silent
TTC39AENSG00000085831ENST00000262676p.Q412Rc.1235A>GSubstitution - Missense
LRRC42ENSG00000116212ENST00000319223p.V287Lc.859G>CSubstitution - Missense
SHFENSG00000138606ENST00000290894p.?c.794-3C>TUnknown
GPR161ENSG00000143147ENST00000537209p.R366Rc.1098G>ASubstitution - coding silent
SDF4ENSG00000078808ENST00000360001p.Q330Ec.988C>GSubstitution - Missense
SYCP1ENSG00000198765ENST00000369518p.N564Nc.1692T>CSubstitution - coding silent
ENST00000369546p.?c.938-1G>TUnknown
ST3GAL3ENSG00000126091ENST00000361746p.R184Hc.551G>ASubstitution - Missense
MAP3K11ENSG00000173327ENST00000309100p.P681Sc.2041C>TSubstitution - Missense
NPFFR1ENSG00000148734ENST00000277942p.W166Cc.498G>CSubstitution - Missense
MYPNENSG00000138347ENST00000358913p.G847Vc.2540G>TSubstitution - Missense
VSTM4ENSG00000165633ENST00000298454p.A108Ac.324G>ASubstitution - coding silent
FAM169BENSG00000185087ENST00000558256p.N26Nc.78T>CSubstitution - coding silent
ANPEPENSG00000166825ENST00000300060p.?c.1437+9C>GUnknown
SLC39A9ENSG00000029364ENST00000336643p.L248Lc.744T>CSubstitution - coding silent
DNAH3ENSG00000158486ENST00000261383p.A1143Ac.3429A>TSubstitution - coding silent
DNAH3ENSG00000158486ENST00000261383p.A1143Ac.3429A>TSubstitution - coding silent
GABRDENSG00000187730ENST00000378585p.T88Tc.264G>ASubstitution - coding silent
NAT10ENSG00000135372ENST00000257829p.N592Sc.1775A>GSubstitution - Missense
THENSG00000180176ENST00000381178p.I240Mc.720C>GSubstitution - Missense
EXPH5ENSG00000110723ENST00000265843p.Y1253*c.3759T>GSubstitution - Nonsense
MUC6ENSG00000184956ENST00000421673p.?c.1454-9G>AUnknown
MUC6ENSG00000184956ENST00000421673p.?c.1454-9G>AUnknown
SIDT2ENSG00000149577ENST00000324225p.A552Tc.1654G>ASubstitution - Missense
TNNT3ENSG00000130595ENST00000278317p.D3Vc.8A>TSubstitution - Missense
TNNT3ENSG00000130595ENST00000381589p.D3Vc.8A>TSubstitution - Missense
EVA1BENSG00000142694ENST00000270824p.P98Pc.294C>GSubstitution - coding silent
PTPRUENSG00000060656ENST00000460170p.I450Ic.1350C>TSubstitution - coding silent
SUCOENSG00000094975ENST00000367723p.A1353Ac.4059T>GSubstitution - coding silent
ZBTB37ENSG00000185278ENST00000427304p.S465Sc.1395C>TSubstitution - coding silent
SELEENSG00000007908ENST00000333360p.M504Tc.1511T>CSubstitution - Missense
STARD13ENSG00000133121ENST00000336934p.A69Ac.207T>CSubstitution - coding silent
ENST00000323380p.S2Sc.6C>TSubstitution - coding silent
RAPGEF3ENSG00000079337ENST00000449771p.N634Nc.1902C>TSubstitution - coding silent
CCDC150ENSG00000144395ENST00000389175p.N261Nc.783C>TSubstitution - coding silent
METTL8ENSG00000123600ENST00000375258p.P222Lc.665C>TSubstitution - Missense
CYBRD1ENSG00000071967ENST00000321348p.P222Pc.666G>ASubstitution - coding silent
EBF4ENSG00000088881ENST00000380648p.G358Gc.1074A>GSubstitution - coding silent
CHMP1BENSG00000255112ENST00000526991p.L66Lc.196T>CSubstitution - coding silent
ENSG00000182319ENST00000330777p.S523Cc.1568C>GSubstitution - Missense
EPG5ENSG00000152223ENST00000282041p.I90Mc.270A>GSubstitution - Missense
TONSLENSG00000160949ENST00000409379p.A666Ac.1998G>ASubstitution - coding silent
ENST00000292520p.A507Ac.1521G>ASubstitution - coding silent
KIAA1875ENSG00000179698ENST00000323662p.L799Fc.2395C>TSubstitution - Missense
CYP3A7ENSG00000160870ENST00000336374p.F108Fc.324C>TSubstitution - coding silent
AKAP9ENSG00000127914ENST00000356239p.H1784Rc.5351A>GSubstitution - Missense
TAS2R4ENSG00000127364ENST00000247881p.T166Tc.498A>GSubstitution - coding silent
UNC93AENSG00000112494ENST00000230256p.G149Cc.445G>TSubstitution - Missense
IQCF6ENSG00000214686ENST00000398780p.R97Wc.289C>TSubstitution - Missense
CDHR4ENSG00000187492ENST00000343366p.D197Dc.591C>TSubstitution - coding silent
SONENSG00000159140ENST00000356577p.G1611Vc.4832G>TSubstitution - Missense
ADAMTS5ENSG00000154736ENST00000284987p.L99Lc.297C>TSubstitution - coding silent
SYNRGENSG00000006114ENST00000346661p.Q98Qc.294A>GSubstitution - coding silent
TMPRSS11EENSG00000087128ENST00000305363p.R216Cc.646C>TSubstitution - Missense
REEP1ENSG00000068615ENST00000165698p.F121Fc.363C>TSubstitution - coding silent
COL18A1ENSG00000182871ENST00000355480p.G1108Rc.3322G>CSubstitution - Missense
AIREENSG00000160224ENST00000291582p.D198Dc.594C>TSubstitution - coding silent
GCDHENSG00000105607ENST00000222214p.S26Sc.78G>ASubstitution - coding silent
GCDHENSG00000105607ENST00000457854p.S26Sc.78G>ASubstitution - coding silent
SLC44A2ENSG00000129353ENST00000335757p.Y228Yc.684C>TSubstitution - coding silent
ELP2ENSG00000134759ENST00000350494p.R60Qc.179G>ASubstitution - Missense
DSG3ENSG00000134757ENST00000257189p.P953Lc.2858C>TSubstitution - Missense
MYOM1ENSG00000101605ENST00000356443p.P323Sc.967C>TSubstitution - Missense
MAFGENSG00000197063ENST00000357736p.R161Qc.482G>ASubstitution - Missense
OGFOD3ENSG00000181396ENST00000329197p.A200Tc.598G>ASubstitution - Missense
GAAENSG00000171298ENST00000390015p.P86Rc.257C>GSubstitution - Missense
NUFIP2ENSG00000108256ENST00000225388p.L406Lc.1216C>TSubstitution - coding silent
ENST00000005905p.A1487Ac.4461C>TSubstitution - coding silent
NM_012417.2p.Y63Yc.189T>CSubstitution - coding silent
PITPNC1ENSG00000154217ENST00000580974p.Y63Yc.189T>CSubstitution - coding silent
TDRD7ENSG00000196116ENST00000355295p.?c.2916-10G>AUnknown
PSKH2ENSG00000147613ENST00000276616p.A383Vc.1148C>TSubstitution - Missense
TNFRSF10CENSG00000173535ENST00000356864p.T214Ic.641C>TSubstitution - Missense
GFRA2ENSG00000168546ENST00000524240p.?c.356-4C>TUnknown
TMF1ENSG00000144747ENST00000398559p.R740Hc.2219G>ASubstitution - Missense
ENST00000438417_v68p.Q44Kc.130C>ASubstitution - Missense
ENST00000438417p.Q44Kc.130C>ASubstitution - Missense
KIAA0020ENSG00000080608ENST00000397885p.A339Tc.1015G>ASubstitution - Missense
ATRNENSG00000088812ENST00000262919p.T1208Tc.3624C>GSubstitution - coding silent
MYH14ENSG00000105357ENST00000262269p.H587Dc.1759C>GSubstitution - Missense
ENST00000301415p.H579Dc.1735C>GSubstitution - Missense
ZNF77ENSG00000175691ENST00000314531p.S403Sc.1209C>TSubstitution - coding silent
MIER2ENSG00000105556ENST00000264819p.V404Mc.1210G>ASubstitution - Missense
LINGO3ENSG00000220008ENST00000404279p.E87Dc.261G>CSubstitution - Missense
ENSG00000228157ENST00000428928p.I61Ic.183C>TSubstitution - coding silent
UNKENSG00000132478ENST00000293218p.H573Hc.1719C>TSubstitution - coding silent
FBXW10ENSG00000171931ENST00000395667p.D263Yc.787G>TSubstitution - Missense
CDRT1ENSG00000241322ENST00000395906p.D263Gc.788A>GSubstitution - Missense
CDRT1ENSG00000241322ENST00000395906p.D263Yc.787G>TSubstitution - Missense
TRIM16ENSG00000221926ENST00000578237p.H320Yc.958C>TSubstitution - Missense
ENST00000311926p.L15Lc.45G>ASubstitution - coding silent
CDRT1ENSG00000241322ENST00000395906p.D263Gc.788A>GSubstitution - Missense
TCEAL5ENSG00000204065ENST00000372680p.R101Qc.302G>ASubstitution - Missense
VCPIP1ENSG00000175073ENST00000310421p.A1182Tc.3544G>ASubstitution - Missense
ATICENSG00000138363ENST00000236959p.K426Kc.1278G>ASubstitution - coding silent
FN1ENSG00000115414ENST00000354785p.R1912Cc.5734C>TSubstitution - Missense
FN1ENSG00000115414ENST00000336916p.R1821Cc.5461C>TSubstitution - Missense
NM_006904p.Y527Yc.1581C>TSubstitution - coding silent
CYSLTR1ENSG00000173198ENST00000373304p.R322Gc.964A>GSubstitution - Missense
BNC2ENSG00000173068ENST00000380672p.E161Ec.483G>ASubstitution - coding silent
ZNF107ENSG00000196247ENST00000395391p.E304*c.910G>TSubstitution - Nonsense
ZNF138ENSG00000197008ENST00000440155p.F113Ic.337T>ASubstitution - Missense
ENST00000274361_v65p.S347Tc.1039T>ASubstitution - Missense
ANKRD31ENSG00000145700ENST00000274361p.S347Tc.1039T>ASubstitution - Missense
F2RL2ENSG00000164220ENST00000296641p.L14Vc.40C>GSubstitution - Missense
TNPO1ENSG00000083312ENST00000506351p.P298Sc.892C>TSubstitution - Missense
TNPO1ENSG00000083312ENST00000506351p.V839Ic.2515G>ASubstitution - Missense
CELSR1ENSG00000075275ENST00000262738p.V2509Ac.7526T>CSubstitution - Missense
MOV10L1ENSG00000073146ENST00000540615p.T335Rc.1004C>GSubstitution - Missense
ARFGAP3ENSG00000242247ENST00000263245p.S143Sc.429C>TSubstitution - coding silent
EML6ENSG00000214595ENST00000356458p.R669Rc.2005C>ASubstitution - coding silent
ARL4CENSG00000188042ENST00000339728p.?c.576-10C>TUnknown
COL4A4ENSG00000081052ENST00000396625p.F1601Fc.4803C>TSubstitution - coding silent
DNERENSG00000187957ENST00000341772p.H591Qc.1773C>ASubstitution - Missense
MOGAT1ENSG00000124003ENST00000446656p.T137Sc.409A>TSubstitution - Missense
USP37ENSG00000135913ENST00000258399p.I688Vc.2062A>GSubstitution - Missense
PLCD4ENSG00000115556ENST00000450993p.T184Tc.552G>ASubstitution - coding silent
HGFENSG00000019991ENST00000222390p.H423Rc.1268A>GSubstitution - Missense
MPP6ENSG00000105926ENST00000396475p.A458Ac.1374T>CSubstitution - coding silent
ARID1BENSG00000049618ENST00000275248p.S744Sc.2232G>ASubstitution - coding silent
NOX3ENSG00000074771ENST00000159060p.A416Tc.1246G>ASubstitution - Missense
ZC2HC1BENSG00000118491ENST00000237275p.A66Tc.196G>ASubstitution - Missense
UTRNENSG00000152818ENST00000367545p.Q626Rc.1877A>GSubstitution - Missense
GFPT2ENSG00000131459ENST00000253778p.T641Ic.1922C>TSubstitution - Missense
TBC1D9BENSG00000197226ENST00000356834p.I813Vc.2437A>GSubstitution - Missense
TBC1D9BENSG00000197226ENST00000355235p.I813Vc.2437A>GSubstitution - Missense
ANK2ENSG00000145362ENST00000357077p.V1317Vc.3951A>GSubstitution - coding silent
GFM1ENSG00000168827ENST00000486715p.N115Sc.344A>GSubstitution - Missense
IGSF10ENSG00000152580ENST00000282466p.D682Gc.2045A>GSubstitution - Missense
DYSFENSG00000135636ENST00000410020p.G83Gc.249G>CSubstitution - coding silent
DYSFENSG00000135636ENST00000258104p.G82Gc.246G>CSubstitution - coding silent
CAPN15ENSG00000103326ENST00000219611p.N745Nc.2235C>TSubstitution - coding silent
ENTPD3ENSG00000168032ENST00000301825p.M142Ic.426G>TSubstitution - Missense
DLEC1ENSG00000008226ENST00000308059p.V1632Mc.4894G>ASubstitution - Missense
DLEC1ENSG00000008226ENST00000346219p.V1632Mc.4894G>ASubstitution - Missense
STT3BENSG00000163527ENST00000295770p.L620Lc.1858T>CSubstitution - coding silent
PDCD6IPENSG00000170248ENST00000307296p.M639Rc.1916T>GSubstitution - Missense
NM_006343p.T612Tc.1836C>TSubstitution - coding silent
GPS2ENSG00000132522ENST00000389167p.T65Tc.195C>GSubstitution - coding silent
ENST00000226094p.V514Ec.1541T>ASubstitution - Missense
ABCA8ENSG00000141338ENST00000269080p.H157Dc.469C>GSubstitution - Missense
FUT6ENSG00000156413ENST00000286955p.T19Mc.56C>TSubstitution - Missense
RBM3ENSG00000102317ENST00000430348p.T76Ac.226A>GSubstitution - Missense
DMDENSG00000198947ENST00000357033p.T302Ic.905C>TSubstitution - Missense
FAM47BENSG00000189132ENST00000329357p.L131Lc.391T>CSubstitution - coding silent
NM_006904p.A2875Ac.8625T>CSubstitution - coding silent
PRKDCENSG00000253729ENST00000314191p.A2874Ac.8622T>CSubstitution - coding silent
ERLIN2ENSG00000147475ENST00000276461p.?c.649+9G>AUnknown
BAG4ENSG00000156735ENST00000287322p.S184Pc.550T>CSubstitution - Missense
TEX15ENSG00000133863ENST00000256246p.D2619Dc.7857C>TSubstitution - coding silent
WRNENSG00000165392ENST00000298139p.?c.1350+116_1431+114del1466Unknown
CCSER1ENSG00000184305ENST00000432775p.T132Ic.395C>TSubstitution - Missense
CCSER1ENSG00000184305ENST00000509176p.T132Ic.395C>TSubstitution - Missense
FGF5ENSG00000138675ENST00000312465p.?c.460-9C>TUnknown
OR5H14ENSG00000236032ENST00000437310p.L153Ic.457C>ASubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.V4147Vc.12441A>GSubstitution - coding silent
SMTNENSG00000183963ENST00000358743p.R814Cc.2440C>TSubstitution - Missense
SMTNENSG00000183963ENST00000333137p.R814Cc.2440C>TSubstitution - Missense
ENST00000404496p.R837Cc.2509C>TSubstitution - Missense
IGHV1OR21-1ENSG00000169861ENST00000302092p.?c.47-3C>TUnknown
ENST00000398685p.R227Lc.680G>TSubstitution - Missense
C2orf54ENSG00000172478ENST00000388934p.V321Mc.961G>ASubstitution - Missense
CACNG3ENSG00000006116ENST00000005284p.P164Lc.491C>TSubstitution - Missense
SCNN1BENSG00000168447ENST00000307331p.P18Lc.53C>TSubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.Y1088Cc.3263A>GSubstitution - Missense
HYDINENSG00000157423ENST00000321489p.G1008Sc.3022G>ASubstitution - Missense
ENST00000316490_v65p.G1008Sc.3022G>ASubstitution - Missense
ENST00000316490p.G1008Sc.3022G>ASubstitution - Missense
PHKG1ENSG00000164776ENST00000297373p.P177Lc.530C>TSubstitution - Missense
PKD1L1ENSG00000158683ENST00000289672p.R1332Cc.3994C>TSubstitution - Missense
NPC1L1ENSG00000015520ENST00000289547p.A898Vc.2693C>TSubstitution - Missense
THSD7AENSG00000005108ENST00000423059p.R812Qc.2435G>ASubstitution - Missense
TCF19ENSG00000137310ENST00000376255p.?c.798-8T>CUnknown
HLA-CENSG00000204525ENST00000376228p.A159Ac.477C>TSubstitution - coding silent
ENST00000539307p.A196Ac.588C>TSubstitution - coding silent
HLA-BENSG00000234745ENST00000412585p.A235Gc.704C>GSubstitution - Missense
HLA-BENSG00000234745ENST00000412585p.S48Tc.142T>ASubstitution - Missense
HLA-AENSG00000206503ENST00000396634p.E43Kc.127G>ASubstitution - Missense
TRIM10ENSG00000204613ENST00000449742p.N77Nc.231C>TSubstitution - coding silent
TRIM10ENSG00000204613ENST00000376704p.N77Nc.231C>TSubstitution - coding silent
LARP1ENSG00000155506ENST00000336314p.H962Rc.2885A>GSubstitution - Missense
NM_023038.2p.K235Qc.703A>CSubstitution - Missense
ADAM19ENSG00000135074ENST00000257527p.K234Qc.700A>CSubstitution - Missense
PCDHA5ENSG00000204965ENST00000529859p.W23Rc.67T>CSubstitution - Missense
PCDHA6ENSG00000081842ENST00000378126p.W23Rc.67T>CSubstitution - Missense
MATR3ENSG00000015479ENST00000394805p.A545Ac.1635A>GSubstitution - coding silent
IDH3GENSG00000067829ENST00000217901p.E171Kc.511G>ASubstitution - Missense
MAGEC3ENSG00000165509ENST00000544766p.Y235Cc.704A>GSubstitution - Missense
CNTD2ENSG00000105219ENST00000430325p.G213Rc.637G>ASubstitution - Missense
EGFL7ENSG00000172889ENST00000371698p.R60Qc.179G>ASubstitution - Missense
SNAPC4ENSG00000165684ENST00000298532p.A942Gc.2825C>GSubstitution - Missense
SEC16AENSG00000148396ENST00000313050p.P1011Pc.3033G>ASubstitution - coding silent
LPCAT1ENSG00000153395ENST00000283415p.R416Gc.1246C>GSubstitution - Missense
CLDN11ENSG00000013297ENST00000064724p.Y117Sc.350A>CSubstitution - Missense
SIENSG00000090402ENST00000264382p.Q953Qc.2859A>GSubstitution - coding silent
ATP4AENSG00000105675ENST00000262623p.P697Pc.2091C>TSubstitution - coding silent
NME2ENSG00000011052ENST00000393193p.A62Ac.186C>TSubstitution - coding silent
NME1ENSG00000239672ENST00000336097p.A87Ac.261C>TSubstitution - coding silent
SLFN13ENSG00000154760ENST00000285013p.R651Qc.1952G>ASubstitution - Missense
TRPV3ENSG00000167723ENST00000576742p.T312Ac.934A>GSubstitution - Missense
BCLAF1ENSG00000029363ENST00000531224p.S422Sc.1266T>CSubstitution - coding silent
SLC2A12ENSG00000146411ENST00000275230p.H414Yc.1240C>TSubstitution - Missense
KIAA0408ENSG00000189367ENST00000483725p.R94Rc.282G>ASubstitution - coding silent
ABCA1ENSG00000165029ENST00000374736p.A1094Ac.3282G>ASubstitution - coding silent
BMP5ENSG00000112175ENST00000370830p.R279Cc.835C>TSubstitution - Missense
ZBTB24ENSG00000112365ENST00000230122p.P493Sc.1477C>TSubstitution - Missense
ENST00000356843p.P29Sc.85C>TSubstitution - Missense
C22orf46ENSG00000184208ENST00000402966p.P29Sc.85C>TSubstitution - Missense
HACE1ENSG00000085382ENST00000262903p.E369Ec.1107A>GSubstitution - coding silent
GCATENSG00000100116ENST00000248924p.D400fs*3c.1197_1198insAInsertion - Frameshift
NFATC1ENSG00000131196ENST00000329101p.Q676Hc.2028G>TSubstitution - Missense
DACH2ENSG00000126733ENST00000373131p.P553Pc.1659A>CSubstitution - coding silent
FAM151BENSG00000152380ENST00000282226p.E265*c.793G>TSubstitution - Nonsense
RASA1ENSG00000145715ENST00000456692p.A576Ac.1728C>TSubstitution - coding silent
ZCCHC10ENSG00000155329ENST00000324170p.?c.203+1741_246-67>CUnknown
ZFYVE28ENSG00000159733ENST00000290974p.P316Ac.946C>GSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.R2354Rc.7062G>ASubstitution - coding silent
FBXW7ENSG00000109670ENST00000281708p.?c.1644+6A>CUnknown
FBXW7ENSG00000109670ENST00000263981p.?c.1404+6A>CUnknown
ENST00000534231p.?c.927+6A>CUnknown
MAML3ENSG00000196782ENST00000509479p.T825Tc.2475G>ASubstitution - coding silent
ACAD11ENSG00000240303ENST00000264990p.P509Sc.1525C>TSubstitution - Missense
MAP3K19ENSG00000176601ENST00000375845p.L209Mc.625C>ASubstitution - Missense
KDM8ENSG00000155666ENST00000286096p.T360Mc.1079C>TSubstitution - Missense
HIF3AENSG00000124440ENST00000377670p.G544Gc.1632G>CSubstitution - coding silent
HIF3AENSG00000124440ENST00000300862p.G542Gc.1626G>CSubstitution - coding silent
BLMENSG00000197299ENST00000355112p.P956Lc.2867C>TSubstitution - Missense
GDF2ENSG00000128802ENST00000249598p.R216Wc.646C>TSubstitution - Missense
NM_003582p.A384Vc.1151C>TSubstitution - Missense
BNC2ENSG00000173068ENST00000380666p.E161Ec.483G>ASubstitution - coding silent
BNC2ENSG00000173068ENST00000418777p.E118Ec.354G>ASubstitution - coding silent
DENND2AENSG00000146966ENST00000492720p.V250Mc.748G>ASubstitution - Missense
DENND2AENSG00000146966ENST00000492720p.S174Sc.522G>ASubstitution - coding silent
MCM3ENSG00000112118ENST00000596288p.?c.1811+10C>GUnknown
FILIP1ENSG00000118407ENST00000393004p.A118Ac.354G>ASubstitution - coding silent
TIAM2ENSG00000146426ENST00000456144p.L1147Lc.3439T>CSubstitution - coding silent
ADAM19ENSG00000135074ENST00000394020p.K236Qc.706A>CSubstitution - Missense
PCDHA5ENSG00000204965ENST00000529619p.W23Rc.67T>CSubstitution - Missense
TRPV3ENSG00000167723ENST00000301365p.T312Ac.934A>GSubstitution - Missense
ZNF717ENSG00000227124ENST00000400845p.E497fs*7c.1485_1486delAGDeletion - Frameshift
ENST00000319748p.M39fs*6c.116delTDeletion - Frameshift
ENST00000405167p.S3434Sc.10302C>TSubstitution - coding silent
DNAH6ENSG00000115423ENST00000398278p.R194Hc.581G>ASubstitution - Missense
NEBENSG00000183091ENST00000397345p.Q59Kc.175C>ASubstitution - Missense
NEBENSG00000183091ENST00000427231p.L57Lc.171G>ASubstitution - coding silent
NEBENSG00000183091ENST00000409198p.L57Lc.171G>ASubstitution - coding silent
NEBENSG00000183091ENST00000397345p.L57Pc.170T>CSubstitution - Missense
NEBENSG00000183091ENST00000427231p.L57Lc.169C>TSubstitution - coding silent
NEBENSG00000183091ENST00000409198p.L57Lc.169C>TSubstitution - coding silent
MATN4ENSG00000124159ENST00000372754p.R102Gc.304C>GSubstitution - Missense
FUT6ENSG00000156413ENST00000592563p.T19Mc.56C>TSubstitution - Missense
OR7G1ENSG00000161807ENST00000541538p.W141Cc.423G>TSubstitution - Missense
EPN3ENSG00000049283ENST00000537145p.P369Tc.1105C>ASubstitution - Missense
FBXW10ENSG00000171931ENST00000308799p.D263Yc.787G>TSubstitution - Missense
FBXW10ENSG00000171931ENST00000308799p.D263Gc.788A>GSubstitution - Missense
SHFENSG00000138606ENST00000318390p.?c.824-3C>TUnknown
MROH7ENSG00000184313ENST00000339553p.N586Nc.1758T>CSubstitution - coding silent
USH2AENSG00000042781ENST00000366942p.C934Wc.2802T>GSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.C934Wc.2802T>GSubstitution - Missense
NBEAENSG00000172915ENST00000400445p.A525Dc.1574C>ASubstitution - Missense
GLT1D1ENSG00000151948ENST00000442111p.G223Rc.667G>ASubstitution - Missense
ANKLE2ENSG00000176915ENST00000337516p.R508Gc.1522C>GSubstitution - Missense
SHANK2ENSG00000162105ENST00000423696p.T446Tc.1338G>ASubstitution - coding silent
SIDT2ENSG00000149577ENST00000278951p.A573Tc.1717G>ASubstitution - Missense
TNNT3ENSG00000130595ENST00000381579p.D3Vc.8A>TSubstitution - Missense
TNNT3ENSG00000130595ENST00000381561p.D3Vc.8A>TSubstitution - Missense
MYPNENSG00000138347ENST00000540630p.Q104Qc.312G>ASubstitution - coding silent
ENSG00000150076ENST00000375025p.K413Kc.1239G>ASubstitution - coding silent
MYOFENSG00000138119ENST00000371501p.I2019Ic.6057C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.R248Qc.743G>ASubstitution - Missense
MCM3ENSG00000112118ENST00000229854p.M562Ic.1686G>CSubstitution - Missense
TMEM151BENSG00000178233ENST00000451188p.L68Lc.204C>TSubstitution - coding silent
TNXBENSG00000168477ENST00000375247p.R1410Qc.4229G>ASubstitution - Missense
FGFR4ENSG00000160867ENST00000292410p.D669Gc.2006A>GSubstitution - Missense
FAM153BENSG00000182230ENST00000253490p.T141Ac.421A>GSubstitution - Missense
ABL1ENSG00000097007ENST00000372348p.V587Mc.1759G>ASubstitution - Missense
ENST00000318560_v70p.V568Mc.1702G>ASubstitution - Missense
PDCLENSG00000136940ENST00000259467p.Y17Cc.50A>GSubstitution - Missense
KHDRBS3ENSG00000131773ENST00000355849p.T243Ic.728C>TSubstitution - Missense
MYCENSG00000136997ENST00000377970p.E69Ec.207G>ASubstitution - coding silent
NM_002467.2p.P60Hc.179C>ASubstitution - Missense
NM_002467.2p.Q306Hc.918G>CSubstitution - Missense
ASAP1ENSG00000153317ENST00000357668p.T123Sc.367A>TSubstitution - Missense
DNAJB6ENSG00000105993ENST00000429029p.Y68Cc.203A>GSubstitution - Missense
PSMG3ENSG00000157778ENST00000288607p.A79Ec.236C>ASubstitution - Missense
ACVR2AENSG00000121989ENST00000241416p.K113Nc.339G>CSubstitution - Missense
NEBENSG00000183091ENST00000427231p.?c.24301-34_24394-39del661Unknown
NEBENSG00000183091ENST00000397345p.?c.24301-34_24394-39del661Unknown
MATN4ENSG00000124159ENST00000372756p.R102Gc.304C>GSubstitution - Missense
WIZENSG00000011451ENST00000263381p.R92Rc.276G>TSubstitution - coding silent
PSG9ENSG00000183668ENST00000270077p.?c.65-10C>AUnknown
CC2D1AENSG00000132024ENST00000318003p.A50Sc.148G>TSubstitution - Missense
FBXW7ENSG00000109670ENST00000281708p.?c.1644+6A>CUnknown
ERV3-1ENSG00000213462ENST00000394323p.P444Pc.1332G>ASubstitution - coding silent
ZNF138ENSG00000197008ENST00000359735p.F82Ic.244T>ASubstitution - Missense
TSC22D2ENSG00000196428ENST00000361875p.A54Tc.160G>ASubstitution - Missense
MRPL19ENSG00000115364ENST00000393909p.W283Rc.847T>CSubstitution - Missense
CCSER1ENSG00000184305ENST00000509176p.T132Ic.395C>TSubstitution - Missense
OGFOD1ENSG00000087263ENST00000566157p.P9Rc.26C>GSubstitution - Missense
COLEC12ENSG00000158270ENST00000400256p.N105Sc.314A>GSubstitution - Missense
ARGLU1ENSG00000134884ENST00000400198p.V37Lc.109G>TSubstitution - Missense
RASA3ENSG00000185989ENST00000334062p.R247Sc.741G>CSubstitution - Missense
NOTCH2NLENSG00000213240ENST00000362074p.Q63Qc.189G>ASubstitution - coding silent
RFX7ENSG00000181827ENST00000423270p.S773*c.2318C>ASubstitution - Nonsense
PDE4DIPENSG00000178104ENST00000369354p.R32Sc.94C>ASubstitution - Missense
CPT1AENSG00000110090ENST00000376618p.V108Mc.322G>ASubstitution - Missense
MYOM3ENSG00000142661ENST00000374434p.M828Ic.2484G>ASubstitution - Missense
RACGAP1ENSG00000161800ENST00000427314p.T277Mc.830C>TSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.K2500Rc.7499A>GSubstitution - Missense
ARHGEF25ENSG00000240771ENST00000333972p.P158Tc.472C>ASubstitution - Missense
TCTN3ENSG00000119977ENST00000265993p.S206Pc.616T>CSubstitution - Missense
PHLDB2ENSG00000144824ENST00000431670p.A199Tc.595G>ASubstitution - Missense
TRPV3ENSG00000167723ENST00000301365p.Y321Yc.963C>TSubstitution - coding silent
HLA-AENSG00000206503ENST00000376806p.E43Kc.127G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S3434Sc.10302C>TSubstitution - coding silent
MYPNENSG00000138347ENST00000540630p.G847Vc.2540G>TSubstitution - Missense
NM_002467.2p.P57Sc.169C>TSubstitution - Missense
PAICSENSG00000128050ENST00000264221p.N162Nc.486T>CSubstitution - coding silent
DNAJB6ENSG00000105993ENST00000262177p.Y68Cc.203A>GSubstitution - Missense
FBXW7ENSG00000109670ENST00000296555p.?c.1290+6A>CUnknown
TNPO1ENSG00000083312ENST00000506351p.?c.2315-10G>AUnknown
SMC1BENSG00000077935ENST00000357450p.R558Qc.1673G>ASubstitution - Missense
NM_148674.1p.R558Qc.1673G>ASubstitution - Missense
ENSG00000197182ENST00000381051p.Q62Ec.184C>GSubstitution - Missense
DEFB131ENSG00000186146ENST00000334879p.D65Dc.195C>TSubstitution - coding silent
PGAP1ENSG00000197121ENST00000354764p.T427Tc.1281A>GSubstitution - coding silent
SYT4ENSG00000132872ENST00000255224p.V18Vc.54G>ASubstitution - coding silent
ENST00000318252p.Y1808Fc.5423A>TSubstitution - Missense
PROCA1ENSG00000167525ENST00000301039p.E276Qc.826G>CSubstitution - Missense
FCN3ENSG00000142748ENST00000270879p.G128Gc.384C>TSubstitution - coding silent
KCNA10ENSG00000143105ENST00000369771p.R466Qc.1397G>ASubstitution - Missense
NPFFR1ENSG00000148734ENST00000277942p.W166Cc.498G>CSubstitution - Missense
ARHGEF25ENSG00000240771ENST00000286494p.P119Tc.355C>ASubstitution - Missense
NAV3ENSG00000067798ENST00000397909p.S604Gc.1810A>GSubstitution - Missense
CNGB3ENSG00000170289ENST00000320005p.R604Qc.1811G>ASubstitution - Missense
NEBENSG00000183091ENST00000397345p.L57Lc.171G>ASubstitution - coding silent
ZER1ENSG00000160445ENST00000291900p.L575Lc.1723C>TSubstitution - coding silent
OR1Q1ENSG00000165202ENST00000297913p.M34Tc.101T>CSubstitution - Missense
MYCENSG00000136997ENST00000377970p.P75Hc.224C>ASubstitution - Missense
STK32AENSG00000169302ENST00000398521p.?c.52+6A>GUnknown
ARHGAP10ENSG00000071205ENST00000336498p.M554Ic.1662G>TSubstitution - Missense
ICAM5ENSG00000105376ENST00000221980p.P640Pc.1920C>TSubstitution - coding silent
ULBP3ENSG00000131019ENST00000367339p.V72fs*7c.214delGDeletion - Frameshift
SFI1ENSG00000198089ENST00000400288p.Y386*c.1158T>GSubstitution - Nonsense
DYNC1I1ENSG00000158560ENST00000324972p.T291Tc.873T>CSubstitution - coding silent
OGFOD3ENSG00000181396ENST00000313056p.A200Tc.598G>ASubstitution - Missense
ENST00000317114p.S90Tc.269G>CSubstitution - Missense
VWDEENSG00000146530ENST00000275358p.C337Gc.1009T>GSubstitution - Missense
USP36ENSG00000055483ENST00000312010p.R631Gc.1891A>GSubstitution - Missense
ITCHENSG00000078747ENST00000374864p.P278Pc.834A>GSubstitution - coding silent
RCC1ENSG00000180198ENST00000373831p.T26Mc.77C>TSubstitution - Missense
MROH7ENSG00000184313ENST00000421030p.N586Nc.1758T>CSubstitution - coding silent
RFX7ENSG00000181827ENST00000423270p.Q277Hc.831G>CSubstitution - Missense
SLC6A12ENSG00000111181ENST00000397296p.N326Nc.978C>TSubstitution - coding silent
MOGAT1ENSG00000124003ENST00000446656p.Y139Hc.415T>CSubstitution - Missense
ARID1BENSG00000049618ENST00000346085p.S815Sc.2445G>ASubstitution - coding silent
EIF3BENSG00000106263ENST00000397011p.E583Dc.1749G>CSubstitution - Missense
HGFENSG00000019991ENST00000222390p.A659Sc.1975G>TSubstitution - Missense
ZNF619ENSG00000177873ENST00000314686p.A364Tc.1090G>ASubstitution - Missense
KRTAP1-3ENSG00000221880ENST00000344363p.F44Cc.131T>GSubstitution - Missense
ELP2ENSG00000134759ENST00000358232p.R60Qc.179G>ASubstitution - Missense
TUBB1ENSG00000101162ENST00000217133p.I193Tc.578T>CSubstitution - Missense
ATG2BENSG00000066739ENST00000359933p.H218Rc.653A>GSubstitution - Missense
CLCC1ENSG00000121940ENST00000369971p.P483Lc.1448C>TSubstitution - Missense
GLT1D1ENSG00000151948ENST00000281703p.G143Rc.427G>ASubstitution - Missense
PTPRUENSG00000060656ENST00000460170p.I450Ic.1350C>TSubstitution - coding silent
SUCOENSG00000094975ENST00000263688p.A1201Ac.3603T>GSubstitution - coding silent
ENST00000370696p.T36Sc.106A>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.H23478Hc.70434T>CSubstitution - coding silent
CSMD1ENSG00000183117ENST00000539096p.Y2079Fc.6236A>TSubstitution - Missense
MCM3ENSG00000112118ENST00000596288p.M607Ic.1821G>CSubstitution - Missense
NEBENSG00000183091ENST00000427231p.L57Pc.170T>CSubstitution - Missense
MYCENSG00000136997ENST00000377970p.Q321Hc.963G>CSubstitution - Missense
CEP135ENSG00000174799ENST00000257287p.R1077Wc.3229C>TSubstitution - Missense
ENST00000275189p.R39Hc.116G>ASubstitution - Missense
PNCKENSG00000130822ENST00000370145p.P14Pc.42G>CSubstitution - coding silent
KDM8ENSG00000155666ENST00000441782p.T398Mc.1193C>TSubstitution - Missense
BAXENSG00000087088ENST00000345358p.?c.26_34+2delGAGGCGGGGgtUnknown
MAML3ENSG00000196782ENST00000509479p.T825Tc.2475G>ASubstitution - coding silent
ZNF132ENSG00000131849ENST00000254166p.Q92Rc.275A>GSubstitution - Missense
CCDC136ENSG00000128596ENST00000297788p.L92Pc.275T>CSubstitution - Missense
ZNF770ENSG00000198146ENST00000356321p.S434Sc.1302A>GSubstitution - coding silent
RFX7ENSG00000181827ENST00000317318p.Q180Hc.540G>CSubstitution - Missense
ARMC4ENSG00000169126ENST00000305242p.Q596Rc.1787A>GSubstitution - Missense
KRTAP5-3ENSG00000196224ENST00000399685p.V93Vc.279G>ASubstitution - coding silent
CDK11AENSG00000008128ENST00000357760p.T579Sc.1736C>GSubstitution - Missense
FTH1ENSG00000167996ENST00000273550p.D45Nc.133G>ASubstitution - Missense
WDR73ENSG00000177082ENST00000434634p.R378Cc.1132C>TSubstitution - Missense
ABCF1ENSG00000204574ENST00000326195p.I775Vc.2323A>GSubstitution - Missense
KRTAP5-5ENSG00000185940ENST00000399676p.G128Ac.383G>CSubstitution - Missense
TRIM9ENSG00000100505ENST00000338969p.T411Tc.1233G>ASubstitution - coding silent
ENST00000451290p.E84Ec.252G>ASubstitution - coding silent
PTCD1ENSG00000106246ENST00000555673p.G457Sc.1369G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R248Qc.743G>ASubstitution - Missense
AP1B1ENSG00000100280ENST00000415447p.S579Gc.1735A>GSubstitution - Missense
MYH14ENSG00000105357ENST00000440075p.H587Dc.1759C>GSubstitution - Missense
MAST2ENSG00000086015ENST00000372008p.E762fs*21c.2285delADeletion - Frameshift
MYPNENSG00000138347ENST00000354393p.G572Vc.1715G>TSubstitution - Missense
ENST00000377643p.H1039Rc.3116A>GSubstitution - Missense
DTWD2ENSG00000169570ENST00000510708p.P247Pc.741T>ASubstitution - coding silent
ENST00000338970_v70p.?c.3+7C>TUnknown
CCDC120ENSG00000147144ENST00000376396p.P474Pc.1422C>TSubstitution - coding silent
ZNF587BENSG00000269343ENST00000442832p.S197Ac.589T>GSubstitution - Missense
RBM3ENSG00000102317ENST00000354480p.T76Ac.226A>GSubstitution - Missense
ANKRD30BENSG00000180777ENST00000358984p.K1367Kc.4101A>GSubstitution - coding silent
NAGPAENSG00000103174ENST00000312251p.N281Nc.843C>TSubstitution - coding silent
TRPV2ENSG00000187688ENST00000338560p.P725Pc.2175G>CSubstitution - coding silent
AP5M1ENSG00000053770ENST00000261558p.V453Ic.1357G>ASubstitution - Missense
PKP1ENSG00000081277ENST00000263946p.G732Ec.2195G>ASubstitution - Missense
CFHR5ENSG00000134389ENST00000367414p.I591Vc.1771A>GSubstitution - Missense
ENTPD5ENSG00000187097ENST00000334696p.L420Lc.1258C>TSubstitution - coding silent
NOC4LENSG00000184967ENST00000330579p.R328Wc.982C>TSubstitution - Missense
RETENSG00000165731ENST00000355710p.A680Tc.2038G>ASubstitution - Missense
TRIM9ENSG00000100505ENST00000298355p.T411Tc.1233G>ASubstitution - coding silent
WDR20ENSG00000140153ENST00000454394p.T397Tc.1191G>ASubstitution - coding silent
ANK2ENSG00000145362ENST00000506722p.V1308Vc.3924A>GSubstitution - coding silent
MYCENSG00000136997ENST00000377970p.P72Sc.214C>TSubstitution - Missense
NM_207305.1p.D78Ec.234C>GSubstitution - Missense
MGAT5BENSG00000167889ENST00000428789p.S363Nc.1088G>ASubstitution - Missense
BTBD7ENSG00000011114ENST00000298896p.N403Dc.1207A>GSubstitution - Missense
ENST00000398121p.Y15Cc.44A>GSubstitution - Missense
SPG11ENSG00000104133ENST00000558319p.R1824Qc.5471G>ASubstitution - Missense
MAST2ENSG00000086015ENST00000361297p.E877fs*21c.2630delADeletion - Frameshift
PDE4DIPENSG00000178104ENST00000369356p.R32Sc.94C>ASubstitution - Missense
CNTN5ENSG00000149972ENST00000524871p.Y77*c.231T>ASubstitution - Nonsense
ULK3ENSG00000140474ENST00000440863p.A122Ac.366T>CSubstitution - coding silent
IPO5ENSG00000065150ENST00000261574p.V1083Ic.3247G>ASubstitution - Missense
KBTBD3ENSG00000182359ENST00000526793p.R356*c.1066C>TSubstitution - Nonsense
CSPG4ENSG00000173546ENST00000308508p.R247Lc.740G>TSubstitution - Missense
VPS8ENSG00000156931ENST00000287546p.?c.1782-10T>GUnknown
NM_002467.2p.E54Ec.162G>ASubstitution - coding silent
GABBR1ENSG00000204681ENST00000377034p.A808Vc.2423C>TSubstitution - Missense
BAXENSG00000087088ENST00000293288p.?c.26_34+2delGAGGCGGGGgtUnknown
CCDC74AENSG00000163040ENST00000295171p.E81Kc.241G>ASubstitution - Missense
CHL1ENSG00000134121ENST00000256509p.I658Nc.1973T>ASubstitution - Missense
NM_004133.3p.C10Sc.28T>ASubstitution - Missense
CACNB1ENSG00000067191ENST00000394303p.G445Gc.1335A>CSubstitution - coding silent
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
UBAP2ENSG00000137073ENST00000379238p.S1053Lc.3158C>TSubstitution - Missense
MYOM2ENSG00000036448ENST00000262113p.F848Fc.2544C>TSubstitution - coding silent
KLK9ENSG00000213022ENST00000376832p.T91Mc.272C>TSubstitution - Missense
MYO15AENSG00000091536ENST00000205890p.?c.6510-5A>TUnknown
MGAT5BENSG00000167889ENST00000301618p.S352Nc.1055G>ASubstitution - Missense
CDRT1ENSG00000241322ENST00000395906p.D263Yc.787G>TSubstitution - Missense
SLC38A8ENSG00000166558ENST00000299709p.T176Pc.526A>CSubstitution - Missense
MYPNENSG00000138347ENST00000358913p.Q104Qc.312G>ASubstitution - coding silent
KRT6AENSG00000205420ENST00000330722p.T554Tc.1662C>GSubstitution - coding silent
NM_000770.2p.K235Ec.703A>GSubstitution - Missense
OR7G1ENSG00000161807ENST00000293614p.W141Cc.423G>TSubstitution - Missense
MRPL4ENSG00000105364ENST00000590669p.P227Sc.679C>TSubstitution - Missense
SFXN1ENSG00000164466ENST00000321442p.R315Cc.943C>TSubstitution - Missense
SKIV2L2ENSG00000039123ENST00000230640p.E578Ac.1733A>CSubstitution - Missense
WIZENSG00000011451ENST00000389282p.R781Rc.2343G>TSubstitution - coding silent
MMP11ENSG00000099953ENST00000215743p.Q323Hc.969G>CSubstitution - Missense
HDAC9ENSG00000048052ENST00000441542p.A859Dc.2576C>ASubstitution - Missense
EFCAB10ENSG00000185055ENST00000480514p.A11Tc.31G>ASubstitution - Missense
ZNF622ENSG00000173545ENST00000308683p.R398Tc.1193G>CSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
NM_014866.1p.P1011Pc.3033G>ASubstitution - coding silent
LYRM7ENSG00000186687ENST00000379380p.K44Rc.131A>GSubstitution - Missense
CARD10ENSG00000100065ENST00000403299p.L365Fc.1093C>TSubstitution - Missense
MOV10L1ENSG00000073146ENST00000262794p.T355Rc.1064C>GSubstitution - Missense
SMEK2ENSG00000138041ENST00000345102p.T559Tc.1677A>GSubstitution - coding silent
HIF3AENSG00000124440ENST00000420102p.G493Gc.1479G>CSubstitution - coding silent
SYNJ2ENSG00000078269ENST00000355585p.N821Sc.2462A>GSubstitution - Missense
ENST00000237275_v68p.A162Tc.484G>ASubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.V4147Vc.12441A>GSubstitution - coding silent
NM_147171.1p.H1796Rc.5387A>GSubstitution - Missense
SLC12A3ENSG00000070915ENST00000438926p.N566Kc.1698C>ASubstitution - Missense
VCPIP1ENSG00000175073ENST00000310421p.K577Rc.1730A>GSubstitution - Missense
FBXW10ENSG00000171931ENST00000395667p.D263Gc.788A>GSubstitution - Missense
SPG11ENSG00000104133ENST00000261866p.R1824Qc.5471G>ASubstitution - Missense
VSTM4ENSG00000165633ENST00000332853p.A108Ac.324G>ASubstitution - coding silent
NM_001787p.T595Sc.1784C>GSubstitution - Missense
GPC6ENSG00000183098ENST00000377047p.R455Qc.1364G>ASubstitution - Missense
CLCA4ENSG00000016602ENST00000370563p.L800Ic.2398C>ASubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.R2354Rc.7062G>ASubstitution - coding silent
ENSG00000228157ENST00000443876p.I61Ic.183C>TSubstitution - coding silent
ABL1ENSG00000097007ENST00000318560p.V568Mc.1702G>ASubstitution - Missense
AHI1ENSG00000135541ENST00000327035p.S437Fc.1310C>TSubstitution - Missense
HSD17B4ENSG00000133835ENST00000256216p.R634Hc.1901G>ASubstitution - Missense
FUT7ENSG00000180549ENST00000314412p.Y324Hc.970T>CSubstitution - Missense
KIAA0100ENSG00000007202ENST00000528896p.A1487Ac.4461C>TSubstitution - coding silent
VWA5B1ENSG00000158816ENST00000375083p.L537Lc.1611G>ASubstitution - coding silent
AMPD2ENSG00000116337ENST00000393688p.Q9fs*59c.20delCDeletion - Frameshift
FETUBENSG00000090512ENST00000265029p.C104Cc.312T>CSubstitution - coding silent
NM_001702.1p.R487Qc.1460G>ASubstitution - Missense
STK32AENSG00000169302ENST00000397936p.?c.52+6A>GUnknown
GGA1ENSG00000100083ENST00000343632p.T578Mc.1733C>TSubstitution - Missense
MYO7BENSG00000169994ENST00000428314p.G1206Ec.3617G>ASubstitution - Missense
ENST00000264412p.T136Sc.406A>TSubstitution - Missense
PLSCR4ENSG00000114698ENST00000354952p.L71Lc.213G>ASubstitution - coding silent
DNAH6ENSG00000115423ENST00000237449p.R194Hc.581G>ASubstitution - Missense
IKBKBENSG00000104365ENST00000520810p.R645Wc.1933C>TSubstitution - Missense
TNNT1ENSG00000105048ENST00000291901p.G163Sc.487G>ASubstitution - Missense
HIST1H1DENSG00000124575ENST00000244534p.G71Gc.213C>TSubstitution - coding silent
ANKRD36CENSG00000174501ENST00000456556p.?c.1633+2T>CUnknown
C8AENSG00000157131ENST00000361249p.C90Yc.269G>ASubstitution - Missense
DUOX2ENSG00000140279ENST00000389039p.Q202fs*99c.596_597insGInsertion - Frameshift
VPS13CENSG00000129003ENST00000395896p.K2807Ec.8419A>GSubstitution - Missense
ATP5F1ENSG00000116459ENST00000369722p.V27Lc.79G>TSubstitution - Missense
COQ5ENSG00000110871ENST00000288532p.M85Vc.253A>GSubstitution - Missense
ENST00000432996p.C869fs*38c.2604delCDeletion - Frameshift
PITPNM1ENSG00000110697ENST00000534749p.A299Ac.897C>TSubstitution - coding silent
CPT1AENSG00000110090ENST00000265641p.V108Mc.322G>ASubstitution - Missense
C2orf54ENSG00000172478ENST00000307486p.V172Mc.514G>ASubstitution - Missense
NEBENSG00000183091ENST00000409198p.L57Pc.170T>CSubstitution - Missense
ABCA8ENSG00000141338ENST00000430352p.H157Dc.469C>GSubstitution - Missense
SONENSG00000159140ENST00000290239p.G1611Vc.4832G>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369351p.R32Sc.94C>ASubstitution - Missense
BCAR3ENSG00000137936ENST00000370247p.N333Nc.999C>TSubstitution - coding silent
PSMD5ENSG00000095261ENST00000210313p.K450Rc.1349A>GSubstitution - Missense
HSP90AB1ENSG00000096384ENST00000371646p.E238Ec.714A>GSubstitution - coding silent
RASA1ENSG00000145715ENST00000274376p.A753Ac.2259C>TSubstitution - coding silent
GPR98ENSG00000164199ENST00000405460p.?c.17856+10C>TUnknown
KLF8ENSG00000102349ENST00000468660p.S346Sc.1038T>CSubstitution - coding silent
MIOXENSG00000100253ENST00000216075p.?c.749+9C>TUnknown
ENST00000264412p.Y138Hc.412T>CSubstitution - Missense
TIAM2ENSG00000146426ENST00000318981p.L1147Lc.3439T>CSubstitution - coding silent
RNF168ENSG00000163961ENST00000318037p.A7Vc.20C>TSubstitution - Missense
AP1B1ENSG00000100280ENST00000357586p.S579Gc.1735A>GSubstitution - Missense
POTEDENSG00000166351ENST00000299443p.D251Vc.752A>TSubstitution - Missense
PTCD1ENSG00000106246ENST00000292478p.G408Sc.1222G>ASubstitution - Missense
SYT4ENSG00000132872ENST00000255224p.V18Vc.54G>ASubstitution - coding silent
GPS1ENSG00000169727ENST00000355130p.?c.1049+8C>GUnknown
CSMD1ENSG00000183117ENST00000537824p.Y2079Fc.6236A>TSubstitution - Missense
NM_018993.2p.?c.629-8A>CUnknown
SLC12A6ENSG00000140199ENST00000290209p.L1085_L1086delLLc.3252_3257delCCTACTDeletion - In frame
SERPINA10ENSG00000140093ENST00000393096p.I357Vc.1069A>GSubstitution - Missense
MR1ENSG00000153029ENST00000367580p.H39Nc.115C>ASubstitution - Missense
TPSG1ENSG00000116176ENST00000234798p.G165Sc.493G>ASubstitution - Missense
SLKENSG00000065613ENST00000369755p.P687delPc.2058_2060delTCCDeletion - In frame
OBSCNENSG00000154358ENST00000284548p.G1913Gc.5739C>TSubstitution - coding silent
PROCA1ENSG00000167525ENST00000439862p.E278Qc.832G>CSubstitution - Missense
VWA5B1ENSG00000158816ENST00000289825p.L254Lc.762G>ASubstitution - coding silent
MYOFENSG00000138119ENST00000371502p.I2009Ic.6027C>TSubstitution - coding silent
CYP2C8ENSG00000138115ENST00000539050p.K149Ec.445A>GSubstitution - Missense
TRPV3ENSG00000167723ENST00000576742p.Y321Yc.963C>TSubstitution - coding silent
ZNF594ENSG00000180626ENST00000399604p.E558Ec.1674G>ASubstitution - coding silent
FOXRED2ENSG00000100350ENST00000397223p.L427Lc.1281C>TSubstitution - coding silent
DACH2ENSG00000126733ENST00000373125p.P566Pc.1698A>CSubstitution - coding silent
FBXO24ENSG00000106336ENST00000427939p.G474Dc.1421G>ASubstitution - Missense
RBM3ENSG00000102317ENST00000376759p.Y103Cc.308A>GSubstitution - Missense
ZNF844ENSG00000223547ENST00000439326p.G203Ec.608G>ASubstitution - Missense
MTDHENSG00000147649ENST00000336273p.P420Rc.1259C>GSubstitution - Missense
USP36ENSG00000055483ENST00000312010p.R631Gc.1891A>GSubstitution - Missense
HNF4GENSG00000164749ENST00000396423p.C47Sc.139T>ASubstitution - Missense
ZNF791ENSG00000173875ENST00000343325p.T155Nc.464C>ASubstitution - Missense
MYOM2ENSG00000036448ENST00000262113p.Q1450Ec.4348C>GSubstitution - Missense
RIN2ENSG00000132669ENST00000255006p.?c.776-8A>CUnknown
INSM1ENSG00000173404ENST00000310227p.L241Lc.721C>TSubstitution - coding silent
C2CD5ENSG00000111731ENST00000333957p.S992Lc.2975C>TSubstitution - Missense
STILENSG00000123473ENST00000337817p.L455Vc.1363T>GSubstitution - Missense
NOMO1ENSG00000103512ENST00000287667p.S898Sc.2694C>TSubstitution - coding silent
PDILTENSG00000169340ENST00000302451p.P551Pc.1653C>TSubstitution - coding silent
PHLDB2ENSG00000144824ENST00000393923p.A226Tc.676G>ASubstitution - Missense
ENST00000349637p.E4128Kc.12382G>ASubstitution - Missense
FILIP1ENSG00000118407ENST00000237172p.A118Ac.354G>ASubstitution - coding silent
NOBOXENSG00000106410ENST00000467773p.S570Sc.1710G>ASubstitution - coding silent
PKD1L1ENSG00000158683ENST00000289672p.R2711Qc.8132G>ASubstitution - Missense
AHI1ENSG00000135541ENST00000367800p.S437Fc.1310C>TSubstitution - Missense
LGALS2ENSG00000100079ENST00000215886p.T2Ac.4A>GSubstitution - Missense
CCDC13ENSG00000244607ENST00000310232p.R164Cc.490C>TSubstitution - Missense
FBXO24ENSG00000106336ENST00000241071p.G436Dc.1307G>ASubstitution - Missense
DENND2AENSG00000146966ENST00000275884p.S174Sc.522G>ASubstitution - coding silent
ENSG00000257743ENST00000477922p.G1410Sc.4228G>ASubstitution - Missense
COL18A1ENSG00000182871ENST00000359759p.G1343Rc.4027G>CSubstitution - Missense
KRTAP10-6ENSG00000188155ENST00000400368p.P69Qc.206C>ASubstitution - Missense
NOL11ENSG00000130935ENST00000253247p.P279Sc.835C>TSubstitution - Missense
ZNF69ENSG00000198429ENST00000429654p.R377Ic.1130G>TSubstitution - Missense
FLNCENSG00000128591ENST00000325888p.S8Pc.22T>CSubstitution - Missense
KIAA1045ENSG00000122733ENST00000242315p.T37Ic.110C>TSubstitution - Missense
MCPH1ENSG00000147316ENST00000344683p.R693Hc.2078G>ASubstitution - Missense
ENST00000293218_v68p.H649Hc.1947C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313382p.Q41Qc.123G>ASubstitution - coding silent
NOTCH2NLENSG00000213240ENST00000362074p.Q63Qc.189G>ASubstitution - coding silent
ATP1A1ENSG00000163399ENST00000295598p.R264Hc.791G>ASubstitution - Missense
GPR161ENSG00000143147ENST00000367835p.R346Rc.1038G>ASubstitution - coding silent
PTPRUENSG00000060656ENST00000345512p.I450Ic.1350C>TSubstitution - coding silent
EIF3AENSG00000107581ENST00000369144p.V410Vc.1230T>ASubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.S3486Sc.10458G>TSubstitution - coding silent
OBSCNENSG00000154358ENST00000359599p.G2196Gc.6588C>TSubstitution - coding silent
DNTTENSG00000107447ENST00000371174p.E492Gc.1475A>GSubstitution - Missense
CYP2C8ENSG00000138115ENST00000535898p.K133Ec.397A>GSubstitution - Missense
DYRK3ENSG00000143479ENST00000367109p.A419Vc.1256C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.H17173Hc.51519T>CSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.P2880Sc.8638C>TSubstitution - Missense
SYT6ENSG00000134207ENST00000393296p.?c.1193-1G>TUnknown
FOXD4ENSG00000170122ENST00000382500p.D78Ec.234C>GSubstitution - Missense
TCTN3ENSG00000119977ENST00000371217p.S224Pc.670T>CSubstitution - Missense
MCM3ENSG00000112118ENST00000229854p.?c.1676+10C>GUnknown
HLA-BENSG00000234745ENST00000412585p.S121Sc.363C>TSubstitution - coding silent
NFATC1ENSG00000131196ENST00000591814p.Q689Hc.2067G>TSubstitution - Missense
ENST00000272666p.G1206Ec.3617G>ASubstitution - Missense
ENST00000392600p.P172Lc.515C>TSubstitution - Missense
HIST1H2ACENSG00000180573ENST00000377791p.R30Lc.89G>TSubstitution - Missense
C20orf194ENSG00000088854ENST00000252032p.I56Ic.168C>TSubstitution - coding silent
RANBP6ENSG00000137040ENST00000259569p.T680Nc.2039C>ASubstitution - Missense
SLC12A6ENSG00000140199ENST00000558589p.L1127_L1128delLLc.3378_3383delCCTACTDeletion - In frame
BCAR3ENSG00000137936ENST00000260502p.N424Nc.1272C>TSubstitution - coding silent
CFHR5ENSG00000134389ENST00000256785p.I567Vc.1699A>GSubstitution - Missense
CLCC1ENSG00000121940ENST00000369970p.P433Lc.1298C>TSubstitution - Missense
WDR20ENSG00000140153ENST00000335263p.T366Tc.1098G>ASubstitution - coding silent
OR6K6ENSG00000180433ENST00000368144p.L127Rc.380T>GSubstitution - Missense
ENST00000375089p.L537Lc.1611G>ASubstitution - coding silent
DYRK3ENSG00000143479ENST00000367106p.A399Vc.1196C>TSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.R248Qc.743G>ASubstitution - Missense
OAS1ENSG00000089127ENST00000202917p.P301fs*27c.900delCDeletion - Frameshift
ENST00000319426p.Q107Rc.320A>GSubstitution - Missense
TIAM2ENSG00000146426ENST00000367174p.L523Lc.1567T>CSubstitution - coding silent
NEBENSG00000183091ENST00000409198p.Q59Kc.175C>ASubstitution - Missense
GPR161ENSG00000143147ENST00000546300p.R232Rc.696G>ASubstitution - coding silent
TNXBENSG00000168477ENST00000375244p.R1323Qc.3968G>ASubstitution - Missense
HDAC9ENSG00000048052ENST00000441542p.A859Dc.2576C>ASubstitution - Missense
MAGEC3ENSG00000165509ENST00000298296p.Y533Cc.1598A>GSubstitution - Missense
PET112ENSG00000059691ENST00000263985p.V363Mc.1087G>ASubstitution - Missense
GPR171ENSG00000174946ENST00000309180p.F6Lc.16T>CSubstitution - Missense
ZNF619ENSG00000177873ENST00000447116p.A420Tc.1258G>ASubstitution - Missense
ENST00000526991_v68p.L66Lc.196T>CSubstitution - coding silent
KRTAP10-1ENSG00000215455ENST00000400375p.Q123fs*>160c.369delGDeletion - Frameshift
VWDEENSG00000146530ENST00000275358p.C1078Gc.3232T>GSubstitution - Missense
AGTR2ENSG00000180772ENST00000371906p.L275Lc.825G>CSubstitution - coding silent
LRRC7ENSG00000033122ENST00000035383p.E787Kc.2359G>ASubstitution - Missense
VPS13CENSG00000129003ENST00000261517p.K2807Ec.8419A>GSubstitution - Missense
RNF26ENSG00000173456ENST00000311413p.R333Cc.997C>TSubstitution - Missense
NBEAENSG00000172915ENST00000310336p.A525Dc.1574C>ASubstitution - Missense
SLC22A11ENSG00000168065ENST00000301891p.?c.942+5G>TUnknown
NAALADL1ENSG00000168060ENST00000358658p.T438Tc.1314G>CSubstitution - coding silent
ROBO3ENSG00000154134ENST00000397801p.?c.646-10T>GUnknown
OAS1ENSG00000089127ENST00000445409p.P301fs*27c.900delCDeletion - Frameshift
ENTPD3ENSG00000168032ENST00000301825p.T214Nc.641C>ASubstitution - Missense
FUT3ENSG00000171124ENST00000303225p.R38Qc.113G>ASubstitution - Missense
ENST00000545858p.R155Qc.464G>ASubstitution - Missense
HIST2H2BFENSG00000203814ENST00000369167p.G54Dc.161G>ASubstitution - Missense
NEBENSG00000183091ENST00000397345p.L57Lc.169C>TSubstitution - coding silent
TRIM49BENSG00000182053ENST00000332682p.W333Lc.998G>TSubstitution - Missense
FGFR4ENSG00000160867ENST00000292408p.D709Gc.2126A>GSubstitution - Missense
VPS8ENSG00000156931ENST00000437079p.?c.1782-10T>GUnknown
NM_002467.2p.L178Vc.532C>GSubstitution - Missense
HLA-DRB1ENSG00000196126ENST00000360004p.D86Nc.256G>ASubstitution - Missense
ZNF225ENSG00000256294ENST00000262894p.Q674Kc.2020C>ASubstitution - Missense
ZNF277ENSG00000198839ENST00000361822p.P43Pc.129A>GSubstitution - coding silent
HLA-CENSG00000204525ENST00000383329p.A159Ac.477C>TSubstitution - coding silent
TSC1ENSG00000165699ENST00000298552p.E66*c.196G>TSubstitution - Nonsense
FAM194AENSG00000163645ENST00000295910p.P475Lc.1424C>TSubstitution - Missense
XYLBENSG00000093217ENST00000207870p.A236Tc.706G>ASubstitution - Missense
DMDENSG00000198947ENST00000378677p.T298Ic.893C>TSubstitution - Missense
SONENSG00000159140ENST00000300278p.G1611Vc.4832G>TSubstitution - Missense
ENST00000425519p.S589Pc.1765T>CSubstitution - Missense
KRI1ENSG00000129347ENST00000312962p.P526Lc.1577C>TSubstitution - Missense
ZNF717ENSG00000227124ENST00000422325p.E504fs*7c.1506_1507delAGDeletion - Frameshift
CNGB3ENSG00000170289ENST00000320005p.S157Sc.471A>TSubstitution - coding silent
IRS4ENSG00000133124ENST00000372129p.G542_N543ins16c.1622_1623ins48Insertion - In frame
PRKDCENSG00000253729ENST00000314191p.Y527Yc.1581C>TSubstitution - coding silent
DDX10ENSG00000178105ENST00000322536p.I400fs*5c.1194_1195delATDeletion - Frameshift
PLA2G4FENSG00000168907ENST00000382396p.D66Nc.196G>ASubstitution - Missense
ADAMTS15ENSG00000166106ENST00000299164p.S575Sc.1725C>TSubstitution - coding silent
ID3ENSG00000117318ENST00000374561p.L54Vc.160C>GSubstitution - Missense
GPD1ENSG00000167588ENST00000301149p.R35Rc.105G>ASubstitution - coding silent
NM_213596.1p.P12fs*117c.31_32ins22Insertion - Frameshift
KIAA1462ENSG00000165757ENST00000375377p.S67Tc.200G>CSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.V1992Mc.5974G>ASubstitution - Missense
NEBENSG00000183091ENST00000427231p.Q59Kc.175C>ASubstitution - Missense
MERTKENSG00000153208ENST00000295408p.T612Tc.1836C>TSubstitution - coding silent
PITPNC1ENSG00000154217ENST00000335257p.Y63Yc.189T>CSubstitution - coding silent
SLC12A6ENSG00000140199ENST00000397707p.L1121_L1122delLLc.3360_3365delCCTACTDeletion - In frame
MYOM3ENSG00000142661ENST00000329601p.M828Ic.2484G>ASubstitution - Missense
DLC1ENSG00000164741ENST00000276297p.E905Qc.2713G>CSubstitution - Missense
ARMC4ENSG00000169126ENST00000545014p.Q121Rc.362A>GSubstitution - Missense
MYPNENSG00000138347ENST00000373675p.Q104Qc.312G>ASubstitution - coding silent
MYCENSG00000136997ENST00000377970p.L193Vc.577C>GSubstitution - Missense
TRIM10ENSG00000204613ENST00000449742p.N77Nc.231C>TSubstitution - coding silent
PKD1L1ENSG00000158683ENST00000289672p.H2388Dc.7162C>GSubstitution - Missense
DMDENSG00000198947ENST00000378677p.T298Ic.893C>TSubstitution - Missense


COSMIC

6 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
NM_002467.2p.V5Ic.13G>ASubstitution - Missense23143597
MRPL4ENSG00000105364ENST00000307422p.P227Sc.679C>TSubstitution - Missense23143597
ADH1BENSG00000196616ENST00000305046p.G271Sc.811G>ASubstitution - Missense23143597
MYCENSG00000136997ENST00000377970p.V20Ic.58G>ASubstitution - Missense23143597
SLC12A6ENSG00000140199ENST00000290209p.L1086fs*7c.3257_3258delTTDeletion - Frameshift23143597
SLC12A6ENSG00000140199ENST00000558589p.L1128fs*7c.3383_3384delTTDeletion - Frameshift23143597