Cell Line Synopsis
Cell Line Overview
Mutations
Copy Number Variation
Gene Expression
RNAi
Compound Sensitivity Profile
Similar Cell Lines

SK-MES-1 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

969 mutations reported
288 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
PITX2ENSG00000164093ENST00000306732p.S287Nc.860G>ASubstitution - Missense
FAM65AENSG00000039523ENST00000042381p.W971*c.2913G>ASubstitution - Nonsense
ARPP21ENSG00000172995ENST00000428373p.Q51Kc.151C>ASubstitution - Missense
ZFP42ENSG00000179059ENST00000326866p.E308*c.922G>TSubstitution - Nonsense
PCDH7ENSG00000169851ENST00000361762p.P413Qc.1238C>ASubstitution - Missense
AVPR2ENSG00000126895ENST00000358927p.L236Vc.706C>GSubstitution - Missense
NEUROD6ENSG00000164600ENST00000297142p.T217Ic.650C>TSubstitution - Missense
SCN9AENSG00000169432ENST00000409672p.K1006Tc.3017A>CSubstitution - Missense
COL25A1ENSG00000188517ENST00000399132p.G385Gc.1155G>TSubstitution - coding silent
HYDINENSG00000157423ENST00000321489p.A291Dc.872C>ASubstitution - Missense
ENST00000328843_v70p.L1297Wc.3890T>GSubstitution - Missense
TNS3ENSG00000136205ENST00000442536p.A134Pc.400G>CSubstitution - Missense
SRP54ENSG00000100883ENST00000556994p.P289Sc.865C>TSubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.?c.3006+10C>GUnknown
XM_210048.3p.P99Rc.296C>GSubstitution - Missense
CDC14BENSG00000081377ENST00000375241p.S67Ic.200G>TSubstitution - Missense
CDC14BENSG00000081377ENST00000375240p.S67Ic.200G>TSubstitution - Missense
SOGA1ENSG00000149639ENST00000237536p.C992Yc.2975G>ASubstitution - Missense
SOGA1ENSG00000149639ENST00000279034p.C754Yc.2261G>ASubstitution - Missense
PROS1ENSG00000184500ENST00000394236p.?c.77-7C>AUnknown
POFUT2ENSG00000186866ENST00000349485p.?c.1013-5T>AUnknown
ENST00000356127p.R14451Gc.43351C>GSubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.E160*c.478G>TSubstitution - Nonsense
FGD5ENSG00000154783ENST00000285046p.T738Kc.2213C>ASubstitution - Missense
CCDC14ENSG00000175455ENST00000433542p.S843Lc.2528C>TSubstitution - Missense
FBN2ENSG00000138829ENST00000508053p.L2391Lc.7171C>TSubstitution - coding silent
CTNNA1ENSG00000044115ENST00000302763p.G273Gc.819A>TSubstitution - coding silent
ATP1A3ENSG00000105409ENST00000302102p.R194Rc.582G>TSubstitution - coding silent
ISL1ENSG00000016082ENST00000230658p.P146Ac.436C>GSubstitution - Missense
ERBB4ENSG00000178568ENST00000342788p.G936Rc.2806G>ASubstitution - Missense
AMPHENSG00000078053ENST00000428293p.V463Ic.1387G>ASubstitution - Missense
BRINP1ENSG00000078725ENST00000373964p.P279Pc.837C>GSubstitution - coding silent
LAMB3ENSG00000196878ENST00000367030p.A590Ac.1770G>TSubstitution - coding silent
KIF26BENSG00000162849ENST00000407071p.V739Vc.2217C>GSubstitution - coding silent
ADCY4ENSG00000129467ENST00000310677p.G1070Gc.3210A>TSubstitution - coding silent
TMEM117ENSG00000139173ENST00000266534p.G335Dc.1004G>ASubstitution - Missense
ZFP69ENSG00000187815ENST00000372706p.N235Hc.703A>CSubstitution - Missense
JMJD7-PLA2G4BENSG00000168970ENST00000382448p.?c.530-10C>TUnknown
CHIAENSG00000134216ENST00000369740p.F58Vc.172T>GSubstitution - Missense
CLMNENSG00000165959ENST00000298912p.G218Ec.653G>ASubstitution - Missense
DDX5ENSG00000108654ENST00000225792p.A119Sc.355G>TSubstitution - Missense
MST1RENSG00000164078ENST00000296474p.T658Tc.1974C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.G5608Vc.16823G>TSubstitution - Missense
POTEEENSG00000188219ENST00000356920p.S38Rc.114C>ASubstitution - Missense
TGIF2LYENSG00000176679ENST00000321217p.P184Pc.552G>CSubstitution - coding silent
KLHL4ENSG00000102271ENST00000373119p.V714Lc.2140G>TSubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.L2391Lc.7171C>TSubstitution - coding silent
BCLAF1ENSG00000029363ENST00000531224p.A521Sc.1561G>TSubstitution - Missense
GPR112ENSG00000156920ENST00000394143p.F449Fc.1347T>CSubstitution - coding silent
EVC2ENSG00000173040ENST00000344408p.G1056Vc.3167G>TSubstitution - Missense
ARHGAP35ENSG00000160007ENST00000404338p.N1348Tc.4043A>CSubstitution - Missense
CFHR4ENSG00000134365ENST00000251424p.Q282Rc.845A>GSubstitution - Missense
RHOBTB2ENSG00000008853ENST00000251822p.R222Hc.665G>ASubstitution - Missense
LATS1ENSG00000131023ENST00000253339p.E574*c.1720G>TSubstitution - Nonsense
LATS1ENSG00000131023ENST00000543571p.E574*c.1720G>TSubstitution - Nonsense
SIAH3ENSG00000215475ENST00000400405p.P104Pc.312C>TSubstitution - coding silent
F2ENSG00000180210ENST00000311907p.A102Ac.306A>CSubstitution - coding silent
NLRP10ENSG00000182261ENST00000328600p.E22Qc.64G>CSubstitution - Missense
DISC1ENSG00000162946ENST00000317586p.R127Tc.380G>CSubstitution - Missense
ATP8A2ENSG00000132932ENST00000381655p.R778Qc.2333G>ASubstitution - Missense
C1orf101ENSG00000179397ENST00000366533p.D526Nc.1576G>ASubstitution - Missense
IGHMBP2ENSG00000132740ENST00000255078p.I167Tc.500T>CSubstitution - Missense
POTEMENSG00000187537ENST00000551509p.?c.1127-6C>AUnknown
TTC40ENSG00000171811ENST00000263170p.Q202Kc.604C>ASubstitution - Missense
USP28ENSG00000048028ENST00000003302p.E65*c.193G>TSubstitution - Nonsense
NM_002837.2p.Y1865Cc.5594A>GSubstitution - Missense
XM_371254.3p.?c.7551+4_7551+5insTUnknown
MDGA2ENSG00000139915ENST00000357362p.A704Vc.2111C>TSubstitution - Missense
NM_147192.2p.H254Dc.760C>GSubstitution - Missense
DENND4BENSG00000198837ENST00000361217p.E482*c.1444G>TSubstitution - Nonsense
RTN1ENSG00000139970ENST00000267484p.V623Vc.1869C>TSubstitution - coding silent
NPHP4ENSG00000131697ENST00000378156p.L1371Lc.4111C>TSubstitution - coding silent
SETBP1ENSG00000152217ENST00000282030p.P983Rc.2948C>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.G11980Vc.35939G>TSubstitution - Missense
PDE11AENSG00000128655ENST00000286063p.V278Lc.832G>TSubstitution - Missense
RNF212ENSG00000178222ENST00000382968p.C199fs*11c.596_597delGTDeletion - Frameshift
LGI1ENSG00000108231ENST00000371418p.K210Nc.630A>TSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.A3603Ec.10808C>ASubstitution - Missense
OR4K15ENSG00000169488ENST00000305051p.G194Cc.580G>TSubstitution - Missense
NRLENSG00000129535ENST00000396997p.A76Vc.227C>TSubstitution - Missense
MPEG1ENSG00000197629ENST00000361050p.R598Wc.1792C>TSubstitution - Missense
MS4A6EENSG00000166926ENST00000300182p.?c.148-1G>TUnknown
KIF26BENSG00000162849ENST00000407071p.V739Vc.2217C>GSubstitution - coding silent
TTC40ENSG00000171811ENST00000368586p.L1814Lc.5440C>TSubstitution - coding silent
C12orf40ENSG00000180116ENST00000324616p.L437Wc.1310T>GSubstitution - Missense
OVCH1ENSG00000187950ENST00000318184p.K459Nc.1377G>TSubstitution - Missense
TUBGCP5ENSG00000153575ENST00000283645p.D487Yc.1459G>TSubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.Q918Rc.2753A>GSubstitution - Missense
LRFN5ENSG00000165379ENST00000298119p.Q302Kc.904C>ASubstitution - Missense
QRICH2ENSG00000129646ENST00000262765p.G358Gc.1074C>TSubstitution - coding silent
KCNH6ENSG00000173826ENST00000583023p.G230Gc.690C>TSubstitution - coding silent
NEFMENSG00000104722ENST00000221166p.H906Qc.2718C>ASubstitution - Missense
CALB1ENSG00000104327ENST00000265431p.D24Ec.72C>ASubstitution - Missense
ROCK1ENSG00000067900ENST00000399799p.Q249Ec.745C>GSubstitution - Missense
NM_003319p.S24549Sc.73647C>TSubstitution - coding silent
ITGADENSG00000156886ENST00000389202p.L474Lc.1422G>TSubstitution - coding silent
ITGAMENSG00000169896ENST00000287497p.R309Cc.925C>TSubstitution - Missense
AGPAT4ENSG00000026652ENST00000320285p.P264Hc.791C>ASubstitution - Missense
SYNGR1ENSG00000100321ENST00000328933p.D108Nc.322G>ASubstitution - Missense
SVEP1ENSG00000165124ENST00000401783p.L3389Lc.10167G>TSubstitution - coding silent
EGFRENSG00000146648ENST00000275493p.G665Gc.1995C>TSubstitution - coding silent
OR7A10ENSG00000127515ENST00000248058p.K220Ec.658A>GSubstitution - Missense
SNX13ENSG00000071189ENST00000428135p.W842Cc.2526G>CSubstitution - Missense
TNXBENSG00000168477ENST00000375247p.?c.7103-7G>AUnknown
CHRNA7ENSG00000175344ENST00000454250p.S85Tc.253T>ASubstitution - Missense
GABRA2ENSG00000151834ENST00000540012p.S455fs*>2c.1362delCDeletion - Frameshift
GRM7ENSG00000196277ENST00000357716p.V436Ac.1307T>CSubstitution - Missense
SLITRK5ENSG00000165300ENST00000325089p.G718Rc.2152G>CSubstitution - Missense
HEATR1ENSG00000119285ENST00000366582p.A524Sc.1570G>TSubstitution - Missense
CHD8ENSG00000100888ENST00000430710p.P1598Pc.4794C>TSubstitution - coding silent
TXNRD1ENSG00000198431ENST00000525566p.?c.1882-2A>GUnknown
RGS7ENSG00000182901ENST00000366565p.R329Qc.986G>ASubstitution - Missense
ENST00000401058p.S549Nc.1646G>ASubstitution - Missense
FBN3ENSG00000142449ENST00000270509p.V583Mc.1747G>ASubstitution - Missense
COL5A2ENSG00000204262ENST00000374866p.D1265Yc.3793G>TSubstitution - Missense
GRM7ENSG00000196277ENST00000389335p.V436Ac.1307T>CSubstitution - Missense
NM_007195.1p.I45Vc.133A>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.S24741Sc.74223C>TSubstitution - coding silent
RTEL1ENSG00000258366ENST00000318100p.P730Pc.2190C>ASubstitution - coding silent
ABLIM2ENSG00000163995ENST00000447017p.?c.11-2A>GUnknown
RGPD3ENSG00000153165ENST00000409886p.N1281fs*6c.3842_3843insAInsertion - Frameshift
ZBTB20ENSG00000181722ENST00000474710p.R259Sc.775C>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.G608Vc.1823G>TSubstitution - Missense
RTDR1ENSG00000100218ENST00000216036p.I339Ic.1017C>TSubstitution - coding silent
PREX1ENSG00000124126ENST00000396220p.Y348Nc.1042T>ASubstitution - Missense
PAIP1ENSG00000172239ENST00000306846p.?c.972+3A>TUnknown
UBQLNLENSG00000175518ENST00000380184p.H168Rc.503A>GSubstitution - Missense
DLC1ENSG00000164741ENST00000276297p.E329*c.985G>TSubstitution - Nonsense
FCRL3ENSG00000160856ENST00000368186p.P430Lc.1289C>TSubstitution - Missense
PCDH9ENSG00000184226ENST00000377861p.K937Mc.2810A>TSubstitution - Missense
PCDHGA2ENSG00000081853ENST00000394576p.T628Mc.1883C>TSubstitution - Missense
ENST00000367790p.K152Ec.454A>GSubstitution - Missense
FCRL3ENSG00000160856ENST00000368184p.P430Lc.1289C>TSubstitution - Missense
OR10D3ENSG00000197309ENST00000318666p.F178Ic.532T>ASubstitution - Missense
KIF20BENSG00000138182ENST00000260753p.Q871Hc.2613G>TSubstitution - Missense
PIK3C2GENSG00000139144ENST00000433979p.I232Tc.695T>CSubstitution - Missense
ENST00000366638p.R127Tc.380G>CSubstitution - Missense
ESRRAENSG00000173153ENST00000405666p.A392Ac.1176G>ASubstitution - coding silent
TTBK2ENSG00000128881ENST00000267890p.G421Ac.1262G>CSubstitution - Missense
SCN4BENSG00000177098ENST00000324727p.N208Nc.624T>CSubstitution - coding silent
CCDC22ENSG00000101997ENST00000376227p.R505Wc.1513C>TSubstitution - Missense
NHSENSG00000188158ENST00000380060p.G1272Vc.3815G>TSubstitution - Missense
CHN2ENSG00000106069ENST00000539406p.C372Sc.1114T>ASubstitution - Missense
KCNV1ENSG00000164794ENST00000524391p.R157Gc.469A>GSubstitution - Missense
AIM1ENSG00000112297ENST00000369066p.L1607Lc.4821A>GSubstitution - coding silent
PNPLA1ENSG00000180316ENST00000388715p.D115Yc.343G>TSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.H547Hc.1641C>TSubstitution - coding silent
PREX1ENSG00000124126ENST00000371941p.Y348Nc.1042T>ASubstitution - Missense
EPHX3ENSG00000105131ENST00000221730p.V170Vc.510G>ASubstitution - coding silent
HYDINENSG00000157423ENST00000538248p.A318Dc.953C>ASubstitution - Missense
HYDINENSG00000157423ENST00000393550p.A291Dc.872C>ASubstitution - Missense
SPOCK3ENSG00000196104ENST00000421836p.K177Mc.530A>TSubstitution - Missense
PLEKHA8ENSG00000106086ENST00000396257p.D97Vc.290A>TSubstitution - Missense
PLECENSG00000178209ENST00000354589p.P3542Sc.10624C>TSubstitution - Missense
ABLIM2ENSG00000163995ENST00000361737p.?c.11-2A>GUnknown
COL11A1ENSG00000060718ENST00000370096p.?c.1846-7T>AUnknown
MACF1ENSG00000127603ENST00000360115p.R5576Rc.16728G>ASubstitution - coding silent
IGF2ENSG00000167244ENST00000434045p.V49Lc.145G>TSubstitution - Missense
CCDC62ENSG00000130783ENST00000253079p.E238Qc.712G>CSubstitution - Missense
ENST00000433634p.?c.822-5T>CUnknown
ANKRD26ENSG00000107890ENST00000376087p.V516Ic.1546G>ASubstitution - Missense
LCE3DENSG00000163202ENST00000368787p.G83Dc.248G>ASubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.Q918Rc.2753A>GSubstitution - Missense
MTHFD1ENSG00000100714ENST00000555709p.S92Sc.276T>GSubstitution - coding silent
UNC79ENSG00000133958ENST00000256339p.V97Mc.289G>ASubstitution - Missense
KANK4ENSG00000132854ENST00000371153p.Q158Qc.474G>ASubstitution - coding silent
GRM8ENSG00000179603ENST00000405249p.G50fs*18c.145delGDeletion - Frameshift
KIF24ENSG00000186638ENST00000402558p.E220Ec.660G>ASubstitution - coding silent
SLC47A2ENSG00000180638ENST00000325411p.H107Nc.319C>ASubstitution - Missense
DDX5ENSG00000108654ENST00000225792p.A119Sc.355G>TSubstitution - Missense
ENST00000357934p.?c.1482+5G>CUnknown
ENST00000356127p.S31044Sc.93132C>TSubstitution - coding silent
GFOD2ENSG00000141098ENST00000268797p.Q319Hc.957G>TSubstitution - Missense
ISOC2ENSG00000063241ENST00000085068p.R102Cc.304C>TSubstitution - Missense
CASKIN2ENSG00000177303ENST00000321617p.?c.835+9G>TUnknown
HTR4ENSG00000164270ENST00000360693p.A257Ec.770C>ASubstitution - Missense
ZFYVE28ENSG00000159733ENST00000290974p.R713Gc.2137A>GSubstitution - Missense
ZNF527ENSG00000189164ENST00000356178p.Q405Rc.1214A>GSubstitution - Missense
ZSWIM1ENSG00000168612ENST00000372523p.Q350*c.1048C>TSubstitution - Nonsense
OR51L1ENSG00000176798ENST00000321543p.L209Ic.625C>ASubstitution - Missense
ZCCHC24ENSG00000165424ENST00000372333p.?c.433+7C>TUnknown
TDRD5ENSG00000162782ENST00000444136p.P696Ac.2086C>GSubstitution - Missense
ENST00000316490_v65p.A291Dc.872C>ASubstitution - Missense
PLECENSG00000178209ENST00000436759p.P3569Sc.10705C>TSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.S910Pc.2728T>CSubstitution - Missense
LATS1ENSG00000131023ENST00000392273p.E574*c.1720G>TSubstitution - Nonsense
ACACBENSG00000076555ENST00000377848p.N289Kc.867C>GSubstitution - Missense
CLEC4DENSG00000166527ENST00000299665p.W154Cc.462G>CSubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.R3095Qc.9284G>ASubstitution - Missense
TCTN3ENSG00000119977ENST00000265993p.T316Ac.946A>GSubstitution - Missense
GABRG3ENSG00000182256ENST00000333743p.M316Ic.948G>TSubstitution - Missense
MYBPC1ENSG00000196091ENST00000361466p.G1133Gc.3399G>ASubstitution - coding silent
RPRD2ENSG00000163125ENST00000369068p.R780Lc.2339G>TSubstitution - Missense
C11orf65ENSG00000166323ENST00000393084p.E60*c.178G>TSubstitution - Nonsense
NAV2ENSG00000166833ENST00000360655p.R1032Mc.3095G>TSubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.P897Pc.2691G>ASubstitution - coding silent
THBS2ENSG00000186340ENST00000366787p.V818Ic.2452G>ASubstitution - Missense
AFF1ENSG00000172493ENST00000395146p.S815Tc.2444G>CSubstitution - Missense
RPS6KA2ENSG00000071242ENST00000503859p.D550Yc.1648G>TSubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.S767Pc.2299T>CSubstitution - Missense
ZNF236ENSG00000130856ENST00000543926p.E250Kc.748G>ASubstitution - Missense
MEOX2ENSG00000106511ENST00000262041p.R10Lc.29G>TSubstitution - Missense
FHAD1ENSG00000142621ENST00000358897p.I1259Mc.3777C>GSubstitution - Missense
OR8H3ENSG00000181761ENST00000313472p.P262Qc.785C>ASubstitution - Missense
C22orf34ENSG00000188511ENST00000444628p.G224Gc.672G>ASubstitution - coding silent
SP140ENSG00000079263ENST00000392045p.G208Rc.622G>CSubstitution - Missense
F2RL2ENSG00000164220ENST00000296641p.L193Mc.577C>ASubstitution - Missense
TSHZ1ENSG00000179981ENST00000322038p.A330Sc.988G>TSubstitution - Missense
TBX18ENSG00000112837ENST00000369663p.?c.497+8G>TUnknown
ENST00000316490_v65p.?c.3890-10A>TUnknown
PRPS1L1ENSG00000229937ENST00000506618p.A241Ec.722C>ASubstitution - Missense
EPB41L3ENSG00000082397ENST00000544123p.S708Rc.2124C>ASubstitution - Missense
SYNGR1ENSG00000100321ENST00000381535p.D109Nc.325G>ASubstitution - Missense
NEK11ENSG00000114670ENST00000511262p.Q351Lc.1052A>TSubstitution - Missense
SPOCK3ENSG00000196104ENST00000357154p.K228Mc.683A>TSubstitution - Missense
PLECENSG00000178209ENST00000345136p.P3542Sc.10624C>TSubstitution - Missense
ALAS2ENSG00000158578ENST00000455688p.S58Sc.174C>GSubstitution - coding silent
TATDN2ENSG00000157014ENST00000287652p.R714Cc.2140C>TSubstitution - Missense
FRRS1ENSG00000156869ENST00000287474p.P137Lc.410C>TSubstitution - Missense
MIA3ENSG00000154305ENST00000344922p.E145Kc.433G>ASubstitution - Missense
HCN1ENSG00000164588ENST00000303230p.P666Pc.1998G>ASubstitution - coding silent
TBC1D21ENSG00000167139ENST00000300504p.H180Qc.540C>ASubstitution - Missense
TNNENSG00000120332ENST00000239462p.R741Gc.2221C>GSubstitution - Missense
TSC2ENSG00000103197ENST00000219476p.C206Cc.618C>TSubstitution - coding silent
CACNA1CENSG00000151067ENST00000347598p.I1052Ic.3156C>ASubstitution - coding silent
PTPRBENSG00000127329ENST00000261266p.Y1865Cc.5594A>GSubstitution - Missense
FBN1ENSG00000166147ENST00000316623p.R1632Hc.4895G>ASubstitution - Missense
RBM12ENSG00000244462ENST00000374104p.L488Lc.1464G>CSubstitution - coding silent
PTPRZ1ENSG00000106278ENST00000393386p.G37Gc.111C>ASubstitution - coding silent
CDC14BENSG00000081377ENST00000375242p.S30Ic.89G>TSubstitution - Missense
CNBD1ENSG00000176571ENST00000518476p.E333Qc.997G>CSubstitution - Missense
CA1ENSG00000133742ENST00000523953p.D75Nc.223G>ASubstitution - Missense
ZNF705GENSG00000215372ENST00000400156p.?c.140-4A>GUnknown
HCKENSG00000101336ENST00000375852p.?c.683-10T>CUnknown
ANKRD62ENSG00000181626ENST00000314074p.T563Tc.1689A>GSubstitution - coding silent
ZNF518BENSG00000178163ENST00000326756p.S720Sc.2160C>ASubstitution - coding silent
FAM65AENSG00000039523ENST00000379312p.W975*c.2925G>ASubstitution - Nonsense
CCDC135ENSG00000159625ENST00000360716p.E639Vc.1916A>TSubstitution - Missense
ENST00000297027p.?c.331-1G>TUnknown
CHN2ENSG00000106069ENST00000222792p.C297Sc.889T>ASubstitution - Missense
IQCEENSG00000106012ENST00000402050p.T560Sc.1678A>TSubstitution - Missense
ENST00000317082_v61p.N1348Tc.4043A>CSubstitution - Missense
GPR174ENSG00000147138ENST00000276077p.W84*c.251G>ASubstitution - Nonsense
PCDH11YENSG00000099715ENST00000215473p.L19Pc.56T>CSubstitution - Missense
SARDHENSG00000123453ENST00000371872p.?c.511-4C>GUnknown
METTL3ENSG00000165819ENST00000377543p.P439Pc.1317G>TSubstitution - coding silent
OMGENSG00000126861ENST00000247271p.A247Vc.740C>TSubstitution - Missense
HTR4ENSG00000164270ENST00000362016p.A271Ec.812C>ASubstitution - Missense
SARDHENSG00000123453ENST00000298628p.?c.511-4C>GUnknown
RYR1ENSG00000196218ENST00000359596p.?c.2786+6G>TUnknown
TSHZ1ENSG00000179981ENST00000580243p.A375Sc.1123G>TSubstitution - Missense
F11ENSG00000088926ENST00000264692p.G302Rc.904G>CSubstitution - Missense
PLEKHA8ENSG00000106086ENST00000396259p.D97Vc.290A>TSubstitution - Missense
DISP1ENSG00000154309ENST00000284476p.G799Vc.2396G>TSubstitution - Missense
ENSG00000143674ENST00000366624p.Q958Hc.2874G>TSubstitution - Missense
BAI2ENSG00000121753ENST00000373658p.?c.1586-10G>TUnknown
MAB21L3ENSG00000173212ENST00000369500p.V116Mc.346G>ASubstitution - Missense
PAPPA2ENSG00000116183ENST00000367662p.P647Pc.1941C>ASubstitution - coding silent
DENND4BENSG00000198837ENST00000361217p.E594*c.1780G>TSubstitution - Nonsense
KLHL42ENSG00000087448ENST00000381271p.A328Ac.984G>CSubstitution - coding silent
LRRC49ENSG00000137821ENST00000260382p.H549Lc.1646A>TSubstitution - Missense
GGT7ENSG00000131067ENST00000336431p.A409Gc.1226C>GSubstitution - Missense
ENST00000325394p.A81Tc.241G>ASubstitution - Missense
CES5AENSG00000159398ENST00000521992p.?c.792+3G>CUnknown
IMPA1ENSG00000133731ENST00000449740p.I117Ic.351A>TSubstitution - coding silent
SVOPLENSG00000157703ENST00000419765p.D271Yc.811G>TSubstitution - Missense
PASKENSG00000115687ENST00000234040p.L351Lc.1053C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.R8079Gc.24235C>GSubstitution - Missense
FTCDENSG00000160282ENST00000397746p.S170Cc.508A>TSubstitution - Missense
ENST00000356127p.R14451Lc.43352G>TSubstitution - Missense
ABCA10ENSG00000154263ENST00000269081p.V946Fc.2836G>TSubstitution - Missense
FOXP4ENSG00000137166ENST00000373060p.P228Sc.682C>TSubstitution - Missense
FBN2ENSG00000138829ENST00000508053p.?c.4471+7C>AUnknown
CSMD3ENSG00000164796ENST00000343508p.S432Pc.1294T>CSubstitution - Missense
SLC8A1ENSG00000183023ENST00000403092p.A639Ac.1917C>TSubstitution - coding silent
JPH2ENSG00000149596ENST00000372980p.G302Gc.906C>GSubstitution - coding silent
NM_020416.2p.R195Lc.584G>TSubstitution - Missense
JAKMIP1ENSG00000152969ENST00000409021p.?c.1807-4C>TUnknown
OR51L1ENSG00000176798ENST00000321543p.L209Rc.626T>GSubstitution - Missense
NBEAENSG00000172915ENST00000400445p.?c.5521+9C>GUnknown
EXOC7ENSG00000182473ENST00000335146p.T159Tc.477G>TSubstitution - coding silent
BMS1ENSG00000165733ENST00000374518p.D148Nc.442G>ASubstitution - Missense
PCDH20ENSG00000197991ENST00000409186p.D688Hc.2062G>CSubstitution - Missense
PZPENSG00000126838ENST00000381997p.Q864Kc.2590C>ASubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.?c.3006+10C>GUnknown
FZD10ENSG00000111432ENST00000229030p.Q561Kc.1681C>ASubstitution - Missense
MDGA2ENSG00000139915ENST00000399232p.A1002Vc.3005C>TSubstitution - Missense
ENST00000322367p.I567Ic.1701C>ASubstitution - coding silent
ASB17ENSG00000154007ENST00000284142p.R198Cc.592C>TSubstitution - Missense
OR2T1ENSG00000175143ENST00000366474p.T329Ic.986C>TSubstitution - Missense
DLK1ENSG00000185559ENST00000341267p.L224Lc.672G>TSubstitution - coding silent
PTH2RENSG00000144407ENST00000272847p.?c.981+3A>CUnknown
ENSG00000178404ENST00000322630p.S175Nc.524G>ASubstitution - Missense
MED16ENSG00000175221ENST00000312090p.?c.2099-6C>TUnknown
FTCDENSG00000160282ENST00000397748p.S170Cc.508A>TSubstitution - Missense
DSG2ENSG00000046604ENST00000261590p.G1078Ac.3233G>CSubstitution - Missense
BACH1ENSG00000156273ENST00000399921p.D201Yc.601G>TSubstitution - Missense
PRMT2ENSG00000160310ENST00000397637p.?c.1270-5T>CUnknown
ENST00000405167p.T3268Tc.9804C>TSubstitution - coding silent
POTEEENSG00000188219ENST00000356920p.E895Dc.2685G>CSubstitution - Missense
SMARCC1ENSG00000173473ENST00000254480p.G864Gc.2592A>TSubstitution - coding silent
MARCKSENSG00000155130ENST00000368635p.G181Gc.543C>ASubstitution - coding silent
OLFM1ENSG00000130558ENST00000252854p.H407Lc.1220A>TSubstitution - Missense
CTAGE4ENSG00000225932ENST00000486333p.R711Gc.2131A>GSubstitution - Missense
TECRLENSG00000205678ENST00000381210p.W293Cc.879G>TSubstitution - Missense
AMPHENSG00000078053ENST00000356264p.V505Ic.1513G>ASubstitution - Missense
TP53ENSG00000141510ENST00000420246p.E298*c.892G>TSubstitution - Nonsense
DLC1ENSG00000164741ENST00000511869p.E329*c.985G>TSubstitution - Nonsense
AGLENSG00000162688ENST00000361522p.E497Gc.1490A>GSubstitution - Missense
GRM8ENSG00000179603ENST00000358373p.G50fs*18c.145delGDeletion - Frameshift
ENST00000370589_v70p.I362Ic.1086C>ASubstitution - coding silent
ASXL3ENSG00000141431ENST00000269197p.R772Rc.2316G>TSubstitution - coding silent
KIF20BENSG00000138182ENST00000260753p.K1325Rc.3974A>GSubstitution - Missense
MAPK8IP1ENSG00000121653ENST00000241014p.?c.1965-4G>CUnknown
GAB2ENSG00000033327ENST00000361507p.L654Pc.1961T>CSubstitution - Missense
CAPN1ENSG00000014216ENST00000279247p.K398Tc.1193A>CSubstitution - Missense
SLC25A24ENSG00000085491ENST00000370041p.W353*c.1059G>ASubstitution - Nonsense
PIK3C2BENSG00000133056ENST00000367184p.E49Kc.145G>ASubstitution - Missense
OR2C3ENSG00000196242ENST00000366487p.A318Ac.954G>ASubstitution - coding silent
ARID4AENSG00000032219ENST00000355431p.E162Dc.486G>CSubstitution - Missense
CPS1ENSG00000021826ENST00000233072p.T660Tc.1980A>GSubstitution - coding silent
NKX3-1ENSG00000167034ENST00000380871p.H194Pc.581A>CSubstitution - Missense
ENST00000237536_v68p.C992Yc.2975G>ASubstitution - Missense
PRKCSHENSG00000130175ENST00000252455p.E514*c.1540G>TSubstitution - Nonsense
ROBO1ENSG00000169855ENST00000464233p.A898Sc.2692G>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.R8146Lc.24437G>TSubstitution - Missense
MYO5BENSG00000167306ENST00000285039p.Y1430Hc.4288T>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.G5675Vc.17024G>TSubstitution - Missense
PDIA2ENSG00000185615ENST00000219406p.D184Ec.552C>ASubstitution - Missense
ZNF83ENSG00000167766ENST00000301096p.R58Sc.172C>ASubstitution - Missense
ARHGEF26ENSG00000114790ENST00000465817p.S187Sc.561A>GSubstitution - coding silent
RGPD3ENSG00000153165ENST00000409886p.N1281fs*6c.3842_3843insAInsertion - Frameshift
OR51A4ENSG00000205497ENST00000380373p.L75Sc.224T>CSubstitution - Missense
CSHL1ENSG00000204414ENST00000561003p.E13Kc.37G>ASubstitution - Missense
ABLIM2ENSG00000163995ENST00000296372p.?c.11-2A>GUnknown
AGLENSG00000162688ENST00000370163p.E514Gc.1541A>GSubstitution - Missense
SLC17A8ENSG00000179520ENST00000323346p.H438Yc.1312C>TSubstitution - Missense
ANO5ENSG00000171714ENST00000324559p.?c.139-4A>TUnknown
CFHR4ENSG00000134365ENST00000251424p.Q282Kc.844C>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000402845p.I1082Ic.3246C>ASubstitution - coding silent
OR14I1ENSG00000189181ENST00000342623p.K296Kc.888A>GSubstitution - coding silent
PLCB2ENSG00000137841ENST00000260402p.S612Sc.1836C>ASubstitution - coding silent
NM_020856.1p.P584Qc.1751C>ASubstitution - Missense
DCAF12ENSG00000198876ENST00000361264p.S309Sc.927A>TSubstitution - coding silent
DPM1ENSG00000000419ENST00000371588p.S21Gc.61A>GSubstitution - Missense
IMPA1ENSG00000133731ENST00000256108p.I58Ic.174A>TSubstitution - coding silent
NM_007332.1p.I1074Ic.3222C>ASubstitution - coding silent
ENST00000342088p.T155Tc.465C>ASubstitution - coding silent
ARHGEF26ENSG00000114790ENST00000356448p.S187Sc.561A>GSubstitution - coding silent
DNAH11ENSG00000105877ENST00000328843p.L1297Wc.3890T>GSubstitution - Missense
GTF3C1ENSG00000077235ENST00000356183p.R1514Lc.4541G>TSubstitution - Missense
ALAS2ENSG00000158578ENST00000330807p.L107Vc.319C>GSubstitution - Missense
JMYENSG00000152409ENST00000396137p.K844Kc.2532G>ASubstitution - coding silent
C7orf72ENSG00000164500ENST00000297001p.P175Ac.523C>GSubstitution - Missense
SYT14ENSG00000143469ENST00000534859p.P237Tc.709C>ASubstitution - Missense
ARPP21ENSG00000172995ENST00000458225p.Q51Kc.151C>ASubstitution - Missense
SLIT3ENSG00000184347ENST00000404867p.?c.629+1G>TUnknown
NALCNENSG00000102452ENST00000251127p.T792Ic.2375C>TSubstitution - Missense
NTMENSG00000182667ENST00000374791p.R65Pc.194G>CSubstitution - Missense
SBF2ENSG00000133812ENST00000256190p.R722Cc.2164C>TSubstitution - Missense
NCAM1ENSG00000149294ENST00000316851p.?c.2427-5T>CUnknown
TSC2ENSG00000103197ENST00000219476p.C206Cc.618C>TSubstitution - coding silent
GP2ENSG00000169347ENST00000381362p.C21Fc.62G>TSubstitution - Missense
UGT3A2ENSG00000168671ENST00000282507p.R41Wc.121C>TSubstitution - Missense
WNT9BENSG00000158955ENST00000290015p.?c.335-8C>GUnknown
ROBO2ENSG00000185008ENST00000487694p.Q486Hc.1458A>TSubstitution - Missense
SEZ6LENSG00000100095ENST00000248933p.A767Dc.2300C>ASubstitution - Missense
SLC38A5ENSG00000017483ENST00000376876p.A345Ac.1035G>TSubstitution - coding silent
TACR3ENSG00000169836ENST00000304883p.W373Sc.1118G>CSubstitution - Missense
PERPENSG00000112378ENST00000421351p.A72Vc.215C>TSubstitution - Missense
ZNF732ENSG00000186777ENST00000419098p.W429Cc.1287G>TSubstitution - Missense
ENST00000346816p.V1157Vc.3471A>TSubstitution - coding silent
FAM135BENSG00000147724ENST00000395297p.?c.3639-4A>CUnknown
VPS39ENSG00000166887ENST00000348544p.S558Lc.1673C>TSubstitution - Missense
SYT14ENSG00000143469ENST00000422431p.P282Tc.844C>ASubstitution - Missense
FREM2ENSG00000150893ENST00000280481p.S108*c.323C>ASubstitution - Nonsense
QARSENSG00000172053ENST00000420147p.L77Fc.231G>TSubstitution - Missense
STEAP1BENSG00000105889ENST00000406890p.Y171Fc.512A>TSubstitution - Missense
PLAAENSG00000137055ENST00000397292p.A540Ac.1620T>CSubstitution - coding silent
SLITRK5ENSG00000165300ENST00000400028p.G477Rc.1429G>CSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.D1916Hc.5746G>CSubstitution - Missense
PCDH9ENSG00000184226ENST00000377865p.R1102Mc.3305G>TSubstitution - Missense
SEMG2ENSG00000124157ENST00000372769p.G133Dc.398G>ASubstitution - Missense
MADDENSG00000110514ENST00000311027p.L1355Ic.4063C>ASubstitution - Missense
KIF20BENSG00000138182ENST00000416354p.K1395Rc.4184A>GSubstitution - Missense
LARP4ENSG00000161813ENST00000398473p.T607Pc.1819A>CSubstitution - Missense
OR4M1ENSG00000176299ENST00000315957p.T290Tc.870A>GSubstitution - coding silent
CCDC27ENSG00000162592ENST00000294600p.G358Vc.1073G>TSubstitution - Missense
PEA15ENSG00000162734ENST00000368076p.Q17Hc.51G>TSubstitution - Missense
TMPRSS5ENSG00000166682ENST00000299882p.E18Dc.54G>TSubstitution - Missense
SLC25A24ENSG00000085491ENST00000565488p.K276Kc.828G>ASubstitution - coding silent
FKBP3ENSG00000100442ENST00000216330p.K22fs*21c.62_63insAInsertion - Frameshift
ERBB4ENSG00000178568ENST00000402597p.G926Rc.2776G>ASubstitution - Missense
TDRD15ENSG00000218819ENST00000405799p.E1794*c.5380G>TSubstitution - Nonsense
SLC7A13ENSG00000164893ENST00000297524p.L114Ic.340C>ASubstitution - Missense
UGT2B4ENSG00000156096ENST00000305107p.S184Gc.550A>GSubstitution - Missense
CDC14BENSG00000081377ENST00000265659p.S67Ic.200G>TSubstitution - Missense
PTPRDENSG00000153707ENST00000397617p.V1279Vc.3837A>TSubstitution - coding silent
TRMT13ENSG00000122435ENST00000370141p.?c.147+1G>AUnknown
PFKMENSG00000152556ENST00000340802p.Y226Cc.677A>GSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.R2996Qc.8987G>ASubstitution - Missense
TTC40ENSG00000171811ENST00000368586p.Q2041Kc.6121C>ASubstitution - Missense
ERMAPENSG00000164010ENST00000372514p.K439Nc.1317G>TSubstitution - Missense
PTPRBENSG00000127329ENST00000334414p.Y2083Cc.6248A>GSubstitution - Missense
CACNA1EENSG00000198216ENST00000367570p.S1989*c.5966C>ASubstitution - Nonsense
CACNA1CENSG00000151067ENST00000399634p.I1032Ic.3096C>ASubstitution - coding silent
FLGENSG00000143631ENST00000368799p.R1437Lc.4310G>TSubstitution - Missense
ZACNENSG00000186919ENST00000334586p.H144Hc.432C>TSubstitution - coding silent
ENST00000332558_v68p.E58Dc.174G>TSubstitution - Missense
ENSG00000183470ENST00000332558p.E58Dc.174G>TSubstitution - Missense
HIST1H2BBENSG00000196226ENST00000357905p.I90Ic.270C>ASubstitution - coding silent
POLIENSG00000101751ENST00000579534p.I70Vc.208A>GSubstitution - Missense
RNF212ENSG00000178222ENST00000433731p.V217fs*34c.649_650delGTDeletion - Frameshift
MTTPENSG00000138823ENST00000265517p.?c.758+1G>TUnknown
ZSCAN5DENSG00000267908ENST00000600684p.A248Ec.743C>ASubstitution - Missense
ARHGEF26ENSG00000114790ENST00000356448p.S187Sc.561A>GSubstitution - coding silent
ARHGEF26ENSG00000114790ENST00000356448p.S187Sc.561A>GSubstitution - coding silent
POTEEENSG00000188219ENST00000358087p.S38Rc.114C>ASubstitution - Missense
NAT16ENSG00000167011ENST00000300303p.T118Tc.354G>TSubstitution - coding silent
PCDH11YENSG00000099715ENST00000362095p.L19Pc.56T>CSubstitution - Missense
NM_152405.1p.K490Kc.1470G>ASubstitution - coding silent
CPNE5ENSG00000124772ENST00000244751p.R544Lc.1631G>TSubstitution - Missense
SLC25A2ENSG00000120329ENST00000239451p.L81Vc.241C>GSubstitution - Missense
ENST00000237177p.I486Vc.1456A>GSubstitution - Missense
EPHA5ENSG00000145242ENST00000273854p.V891Lc.2671G>TSubstitution - Missense
OR8H3ENSG00000181761ENST00000313472p.P262Tc.784C>ASubstitution - Missense
SARDHENSG00000123453ENST00000371867p.?c.244-4C>GUnknown
SLITRK1ENSG00000178235ENST00000377084p.K250Ec.748A>GSubstitution - Missense
TCTN3ENSG00000119977ENST00000265993p.T316Ac.946A>GSubstitution - Missense
OR13A1ENSG00000256574ENST00000553795p.L84fs*56c.250_251insCInsertion - Frameshift
OR10G4ENSG00000254737ENST00000320891p.S207*c.620C>ASubstitution - Nonsense
POTEMENSG00000187537ENST00000551509p.?c.1127-6C>AUnknown
ZNF511ENSG00000198546ENST00000361518p.?c.227+10T>CUnknown
NOS1APENSG00000198929ENST00000361897p.M155Vc.463A>GSubstitution - Missense
VAV3ENSG00000134215ENST00000370056p.D155Nc.463G>ASubstitution - Missense
RHPN2ENSG00000131941ENST00000400226p.K510Ec.1528A>GSubstitution - Missense
SPEF2ENSG00000152582ENST00000356031p.R794Sc.2380C>ASubstitution - Missense
ZC3H14ENSG00000100722ENST00000251038p.K175Kc.525G>ASubstitution - coding silent
MDGA2ENSG00000139915ENST00000426342p.A704Vc.2111C>TSubstitution - Missense
DOCK7ENSG00000116641ENST00000340370p.W1316Cc.3948G>TSubstitution - Missense
ENST00000370343p.K340Qc.1018A>CSubstitution - Missense
ADAMTS10ENSG00000142303ENST00000270328p.D558Nc.1672G>ASubstitution - Missense
CPS1ENSG00000021826ENST00000430249p.T666Tc.1998A>GSubstitution - coding silent
ENST00000389520_v65p.S1829Lc.5486C>TSubstitution - Missense
ITGB2ENSG00000160255ENST00000397852p.T219Tc.657C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.S31046Sc.93138C>TSubstitution - coding silent
ZNF677ENSG00000197928ENST00000333952p.S564Rc.1690A>CSubstitution - Missense
SLC38A5ENSG00000017483ENST00000376876p.A345Ac.1035G>TSubstitution - coding silent
UGT8ENSG00000174607ENST00000394511p.P27Sc.79C>TSubstitution - Missense
S100GENSG00000169906ENST00000380200p.?c.135+10C>AUnknown
HOXA4ENSG00000197576ENST00000360046p.R257Hc.770G>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.G648Vc.1943G>TSubstitution - Missense
SEMA5AENSG00000112902ENST00000382496p.P712Tc.2134C>ASubstitution - Missense
PPARGC1BENSG00000155846ENST00000309241p.P829Pc.2487C>TSubstitution - coding silent
MYO19ENSG00000141140ENST00000431794p.V877Ic.2629G>ASubstitution - Missense
MRPS18BENSG00000204568ENST00000259873p.R218Lc.653G>TSubstitution - Missense
NEBENSG00000183091ENST00000397345p.?c.7644+10T>CUnknown
PSG2ENSG00000242221ENST00000406487p.P230Ac.688C>GSubstitution - Missense
ENST00000367790_v70p.K152Ec.454A>GSubstitution - Missense
OR51V1ENSG00000176742ENST00000321255p.V280Lc.838G>CSubstitution - Missense
ZNF511ENSG00000198546ENST00000359035p.?c.227+10T>CUnknown
DOCK1ENSG00000150760ENST00000280333p.Y1541Yc.4623C>TSubstitution - coding silent
KIAA1598ENSG00000187164ENST00000392903p.Q575Kc.1723C>ASubstitution - Missense
TCTN3ENSG00000119977ENST00000371217p.T334Ac.1000A>GSubstitution - Missense
MMP26ENSG00000167346ENST00000380390p.?c.596-9A>TUnknown
TTC17ENSG00000052841ENST00000299240p.H671Yc.2011C>TSubstitution - Missense
NTMENSG00000182667ENST00000427481p.R56Pc.167G>CSubstitution - Missense
OR5L1ENSG00000186117ENST00000333973p.R261Mc.782G>TSubstitution - Missense
OR5D18ENSG00000186119ENST00000333976p.N173Ic.518A>TSubstitution - Missense
OR4C16ENSG00000181935ENST00000314634p.D18Yc.52G>TSubstitution - Missense
OR51B4ENSG00000183251ENST00000380224p.C186Fc.557G>TSubstitution - Missense
OR5AR1ENSG00000172459ENST00000302969p.L184Lc.552C>ASubstitution - coding silent
OR52B6ENSG00000187747ENST00000345043p.F122Sc.365T>CSubstitution - Missense
TXNRD1ENSG00000198431ENST00000427956p.?c.1777-2A>GUnknown
RIMBP2ENSG00000060709ENST00000536002p.H304Nc.910C>ASubstitution - Missense
CACNA1EENSG00000198216ENST00000367567p.S1596*c.4787C>ASubstitution - Nonsense
PM20D1ENSG00000162877ENST00000367136p.S23Sc.69C>ASubstitution - coding silent
KCNT2ENSG00000162687ENST00000367431p.H185Yc.553C>TSubstitution - Missense
DOCK7ENSG00000116641ENST00000251157p.W1347Cc.4041G>TSubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.R5074Rc.15222G>ASubstitution - coding silent
MTHFD1ENSG00000100714ENST00000216605p.S148Sc.444T>GSubstitution - coding silent
RTN1ENSG00000139970ENST00000342503p.V55Vc.165C>TSubstitution - coding silent
SYNE2ENSG00000054654ENST00000357395p.E618*c.1852G>TSubstitution - Nonsense
UNC13CENSG00000137766ENST00000545554p.Q918Rc.2753A>GSubstitution - Missense
DUOX1ENSG00000137857ENST00000561166p.E455Dc.1365G>TSubstitution - Missense
OTOAENSG00000155719ENST00000286149p.?c.3392-2A>TUnknown
ABCC1ENSG00000103222ENST00000399408p.G683*c.2047G>TSubstitution - Nonsense
TPSB2ENSG00000197253ENST00000430512p.T115Tc.345C>GSubstitution - coding silent
ENST00000316490p.A291Dc.872C>ASubstitution - Missense
HYDINENSG00000157423ENST00000288168p.A308Dc.923C>ASubstitution - Missense
KRT14ENSG00000186847ENST00000167586p.R407Lc.1220G>TSubstitution - Missense
ENST00000301659_v70p.S390Pc.1168T>CSubstitution - Missense
CSHL1ENSG00000204414ENST00000309894p.E96Kc.286G>ASubstitution - Missense
CSHL1ENSG00000204414ENST00000392824p.W165*c.495G>ASubstitution - Nonsense
KLHL14ENSG00000197705ENST00000358095p.G69Vc.206G>TSubstitution - Missense
CCDC102BENSG00000150636ENST00000584156p.H428Yc.1282C>TSubstitution - Missense
EPB41L3ENSG00000082397ENST00000542146p.S182Rc.546C>ASubstitution - Missense
TPX2ENSG00000088325ENST00000340513p.?c.1941+3A>TUnknown
CACNG2ENSG00000166862ENST00000300105p.G177Vc.530G>TSubstitution - Missense
LBX2ENSG00000179528ENST00000377566p.E145Ec.435G>ASubstitution - coding silent
GFPT1ENSG00000198380ENST00000357308p.E551*c.1651G>TSubstitution - Nonsense
TRPC1ENSG00000144935ENST00000476941p.Q181Hc.543G>TSubstitution - Missense
NEK11ENSG00000114670ENST00000507910p.Q351Lc.1052A>TSubstitution - Missense
GRM7ENSG00000196277ENST00000403881p.V436Ac.1307T>CSubstitution - Missense
ZNF732ENSG00000186777ENST00000419098p.D432Ac.1295A>CSubstitution - Missense
COL25A1ENSG00000188517ENST00000399126p.G385Gc.1155G>TSubstitution - coding silent
TRDNENSG00000186439ENST00000542443p.?c.484+1_485-1del1212Unknown
CACNA1EENSG00000198216ENST00000357570p.S1983*c.5948C>ASubstitution - Nonsense
ART3ENSG00000156219ENST00000355810p.Y131Cc.392A>GSubstitution - Missense
EVC2ENSG00000173040ENST00000344938p.G1056Vc.3167G>TSubstitution - Missense
ADAM19ENSG00000135074ENST00000394020p.G39Cc.115G>TSubstitution - Missense
PPARGC1BENSG00000155846ENST00000394320p.P829Pc.2487C>TSubstitution - coding silent
ZNF131ENSG00000172262ENST00000399534p.?c.227-1G>CUnknown
SLIT3ENSG00000184347ENST00000404867p.S621Cc.1861A>TSubstitution - Missense
AIM1ENSG00000112297ENST00000535438p.L426Lc.1278A>GSubstitution - coding silent
PNPLA1ENSG00000180316ENST00000457797p.D211Yc.631G>TSubstitution - Missense
PLECENSG00000178209ENST00000322810p.P3679Sc.11035C>TSubstitution - Missense
PLECENSG00000178209ENST00000356346p.P3528Sc.10582C>TSubstitution - Missense
PLECENSG00000178209ENST00000354958p.P3520Sc.10558C>TSubstitution - Missense
TRPA1ENSG00000104321ENST00000262209p.I1074Ic.3222C>ASubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000393061p.H656Hc.1968C>TSubstitution - coding silent
SETXENSG00000107290ENST00000372169p.T8Tc.24G>ASubstitution - coding silent
CNTLNENSG00000044459ENST00000262360p.S496Nc.1487G>ASubstitution - Missense
CDC14BENSG00000081377ENST00000375236p.S67Ic.200G>TSubstitution - Missense
KCNG3ENSG00000171126ENST00000306078p.T432Ac.1294A>GSubstitution - Missense
HCSTENSG00000126264ENST00000246551p.A79Sc.235G>TSubstitution - Missense
PRODH2ENSG00000250799ENST00000301175p.?c.1062+4T>AUnknown
LGI4ENSG00000153902ENST00000310123p.T216Mc.647C>TSubstitution - Missense
HTR4ENSG00000164270ENST00000354217p.A257Ec.770C>ASubstitution - Missense
HTR4ENSG00000164270ENST00000314512p.A257Ec.770C>ASubstitution - Missense
SETXENSG00000107290ENST00000224140p.T8Tc.24G>ASubstitution - coding silent
VPS13AENSG00000197969ENST00000357409p.Y18*c.54T>GSubstitution - Nonsense
VPS13AENSG00000197969ENST00000376634p.Y18*c.54T>GSubstitution - Nonsense
PTPRDENSG00000153707ENST00000381196p.V1686Vc.5058A>TSubstitution - coding silent
PTPRDENSG00000153707ENST00000355233p.V1280Vc.3840A>TSubstitution - coding silent
PTPRDENSG00000153707ENST00000381196p.V1686Vc.5058A>TSubstitution - coding silent
PTPRDENSG00000153707ENST00000537002p.V1276Vc.3828A>TSubstitution - coding silent
VPS13AENSG00000197969ENST00000360280p.Y18*c.54T>GSubstitution - Nonsense
MAGEC1ENSG00000155495ENST00000285879p.Q570Lc.1709A>TSubstitution - Missense
DDX26BENSG00000165359ENST00000370752p.R624Mc.1871G>TSubstitution - Missense
PASD1ENSG00000166049ENST00000370357p.V73Mc.217G>ASubstitution - Missense
PASD1ENSG00000166049ENST00000370357p.V73Mc.217G>ASubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.C2006Cc.6018T>CSubstitution - coding silent
NM_023038.2p.G38Cc.112G>TSubstitution - Missense
ADAM19ENSG00000135074ENST00000257527p.G37Cc.109G>TSubstitution - Missense
THSD7AENSG00000005108ENST00000423059p.C1630Cc.4890C>TSubstitution - coding silent
GIMAP2ENSG00000106560ENST00000223293p.W68Lc.203G>TSubstitution - Missense
CNTNAP2ENSG00000174469ENST00000361727p.H275Lc.824A>TSubstitution - Missense
RADILENSG00000157927ENST00000399583p.D1061Nc.3181G>ASubstitution - Missense
TNS3ENSG00000136205ENST00000311160p.A134Pc.400G>CSubstitution - Missense
RGS22ENSG00000132554ENST00000360863p.K233Ic.698A>TSubstitution - Missense
RGS22ENSG00000132554ENST00000360863p.K233Ic.698A>TSubstitution - Missense
TRHRENSG00000174417ENST00000518632p.L352Qc.1055T>ASubstitution - Missense
ENST00000316490p.?c.3746-10A>TUnknown
ENST00000335106p.N426Dc.1276A>GSubstitution - Missense
OTOAENSG00000155719ENST00000388957p.?c.2378-2A>TUnknown
OTOAENSG00000155719ENST00000388958p.?c.3350-2A>TUnknown
POLR3EENSG00000058600ENST00000299853p.?c.472+9G>TUnknown
POLR3EENSG00000058600ENST00000299853p.?c.472+10G>TUnknown
PSG4ENSG00000243137ENST00000405312p.P251Sc.751C>TSubstitution - Missense
NEBENSG00000183091ENST00000427231p.?c.7644+10T>CUnknown
NEBENSG00000183091ENST00000409198p.?c.7644+10T>CUnknown
PLA2R1ENSG00000153246ENST00000283243p.W984Rc.2950T>ASubstitution - Missense
PPP2R2CENSG00000074211ENST00000335585p.R195Lc.584G>TSubstitution - Missense
PRPS1L1ENSG00000229937ENST00000506618p.A241Ec.722C>ASubstitution - Missense
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
PSMD14ENSG00000115233ENST00000409682p.L249Fc.747G>TSubstitution - Missense
SCN9AENSG00000169432ENST00000375387p.K1018Tc.3053A>CSubstitution - Missense
LRP2ENSG00000081479ENST00000263816p.W1599Rc.4795T>CSubstitution - Missense
XIRP2ENSG00000163092ENST00000295237p.V1522Fc.4564G>TSubstitution - Missense
DLC1ENSG00000164741ENST00000316609p.E329*c.985G>TSubstitution - Nonsense
COL22A1ENSG00000169436ENST00000303045p.R862Lc.2585G>TSubstitution - Missense
FAM135BENSG00000147724ENST00000395297p.?c.3639-4A>CUnknown
TGENSG00000042832ENST00000220616p.T2680Ic.8039C>TSubstitution - Missense
ENST00000373969p.P279Pc.837C>GSubstitution - coding silent
C9orf50ENSG00000179058ENST00000372478p.I299Ic.897T>ASubstitution - coding silent
PKN3ENSG00000160447ENST00000291906p.P857Lc.2570C>TSubstitution - Missense
SPOCK3ENSG00000196104ENST00000357545p.K225Mc.674A>TSubstitution - Missense
SLIT3ENSG00000184347ENST00000519560p.?c.629+1G>TUnknown
SLIT3ENSG00000184347ENST00000519560p.S621Cc.1861A>TSubstitution - Missense
ITGA1ENSG00000213949ENST00000282588p.G624Cc.1870G>TSubstitution - Missense
HCN1ENSG00000164588ENST00000303230p.V667Lc.1999G>TSubstitution - Missense
ZNF131ENSG00000172262ENST00000306938p.?c.227-1G>CUnknown
TNXBENSG00000168477ENST00000375244p.?c.6842-7G>AUnknown
CFBENSG00000243649ENST00000425368p.Q256*c.766C>TSubstitution - Nonsense
HSPA1LENSG00000204390ENST00000375654p.G168Gc.504A>CSubstitution - coding silent
OPN5ENSG00000124818ENST00000371211p.L293Ic.877C>ASubstitution - Missense
FCGR2BENSG00000072694ENST00000428605p.Q63Qc.189G>ASubstitution - coding silent
MAGEB1ENSG00000214107ENST00000378981p.A315Pc.943G>CSubstitution - Missense
ARSHENSG00000205667ENST00000381130p.N80Kc.240C>ASubstitution - Missense
CNTNAP5ENSG00000155052ENST00000431078p.G223Cc.667G>TSubstitution - Missense
STK16ENSG00000115661ENST00000409638p.P201fs*21c.599delCDeletion - Frameshift
HTR2BENSG00000135914ENST00000258400p.G369Dc.1106G>ASubstitution - Missense
ARMC9ENSG00000135931ENST00000349938p.I518Mc.1554A>GSubstitution - Missense
ENST00000359743p.I518Mc.1554A>GSubstitution - Missense
UGP2ENSG00000169764ENST00000337130p.I486Tc.1457T>CSubstitution - Missense
CCDC14ENSG00000175455ENST00000310351p.S724Lc.2171C>TSubstitution - Missense
CCDC14ENSG00000175455ENST00000488653p.S884Lc.2651C>TSubstitution - Missense
GFPT1ENSG00000198380ENST00000361060p.E533*c.1597G>TSubstitution - Nonsense
ENST00000344062p.R256Wc.766C>TSubstitution - Missense
GTSE1ENSG00000075218ENST00000454366p.V680Lc.2038G>TSubstitution - Missense
ENST00000160874p.V661Lc.1981G>TSubstitution - Missense
PNPLA1ENSG00000180316ENST00000394571p.D210Yc.628G>TSubstitution - Missense
MED20ENSG00000124641ENST00000265350p.A107Sc.319G>TSubstitution - Missense
FOXP4ENSG00000137166ENST00000373063p.P227Sc.679C>TSubstitution - Missense
KIF6ENSG00000164627ENST00000287152p.R523Lc.1568G>TSubstitution - Missense
KIF6ENSG00000164627ENST00000287152p.R523Lc.1568G>TSubstitution - Missense
C9orf142ENSG00000148362ENST00000371620p.?c.230+3G>TUnknown
PSIP1ENSG00000164985ENST00000380733p.?c.150-6T>CUnknown
PSIP1ENSG00000164985ENST00000380716p.?c.150-6T>CUnknown
PSIP1ENSG00000164985ENST00000380715p.?c.150-6T>CUnknown
EHMT1ENSG00000181090ENST00000460843p.Q273Rc.818A>GSubstitution - Missense
ENST00000298728p.Q242Rc.725A>GSubstitution - Missense
CNTLNENSG00000044459ENST00000380647p.S496Nc.1487G>ASubstitution - Missense
NM_000032.1p.L107Vc.319C>GSubstitution - Missense
TM6SF2ENSG00000213996ENST00000389363p.A351Vc.1052C>TSubstitution - Missense
NCANENSG00000130287ENST00000252575p.D31Nc.91G>ASubstitution - Missense
NCANENSG00000130287ENST00000252575p.D31Nc.91G>ASubstitution - Missense
ENST00000317082p.N1348Tc.4043A>CSubstitution - Missense
GYS1ENSG00000104812ENST00000323798p.?c.678+2T>GUnknown
UGGT1ENSG00000136731ENST00000259253p.K181Ec.541A>GSubstitution - Missense
THSD7BENSG00000144229ENST00000272643p.L1581Fc.4741C>TSubstitution - Missense
THSD7BENSG00000144229ENST00000413152p.L1550Fc.4648C>TSubstitution - Missense
ARHGAP31ENSG00000031081ENST00000264245p.A1003Dc.3008C>ASubstitution - Missense
ZBTB20ENSG00000181722ENST00000357258p.R186Sc.556C>ASubstitution - Missense
NEK11ENSG00000114670ENST00000429253p.Q351Lc.1052A>TSubstitution - Missense
TRPC1ENSG00000144935ENST00000273482p.Q147Hc.441G>TSubstitution - Missense
PRR23BENSG00000184814ENST00000329447p.S59Cc.176C>GSubstitution - Missense
LRATENSG00000121207ENST00000336356p.L17Lc.51C>GSubstitution - coding silent
F11ENSG00000088926ENST00000403665p.G354Rc.1060G>CSubstitution - Missense
NM_032457.1p.P366Qc.1097C>ASubstitution - Missense
ZNF732ENSG00000186777ENST00000419098p.L484*c.1451T>GSubstitution - Nonsense
ZNF732ENSG00000186777ENST00000419098p.T431Rc.1292C>GSubstitution - Missense
ZNF732ENSG00000186777ENST00000419098p.G428*c.1282G>TSubstitution - Nonsense
FBN2ENSG00000138829ENST00000262464p.?c.4471+7C>AUnknown
CCDC102BENSG00000150636ENST00000360242p.H428Yc.1282C>TSubstitution - Missense
DSELENSG00000171451ENST00000310045p.G955fs*9c.2864delGDeletion - Frameshift
PCDH11YENSG00000099715ENST00000333703p.?c.33-10T>CUnknown
ZNF236ENSG00000130856ENST00000253159p.E250Kc.748G>ASubstitution - Missense
SMIM21ENSG00000206026ENST00000579022p.G26Ec.77G>ASubstitution - Missense
WISP3ENSG00000112761ENST00000361714p.R5Lc.14G>TSubstitution - Missense
GPRC6AENSG00000173612ENST00000310357p.A466Sc.1396G>TSubstitution - Missense
SLC30A8ENSG00000164756ENST00000456015p.L142Pc.425T>CSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.S472Pc.1414T>CSubstitution - Missense
COL15A1ENSG00000204291ENST00000375001p.G1053Ac.3158G>CSubstitution - Missense
TRDNENSG00000186439ENST00000398178p.?c.484+1_484+1212del1212Unknown
NKAIN2ENSG00000188580ENST00000368417p.?c.618-3C>AUnknown
SLC18B1ENSG00000146409ENST00000275227p.S68Ic.203G>TSubstitution - Missense
NF1ENSG00000196712ENST00000358273p.G849fs*16c.2544_2545insTInsertion - Frameshift
NF1ENSG00000196712ENST00000358273p.G849fs*16c.2544_2545insTInsertion - Frameshift
MYO19ENSG00000141140ENST00000431794p.V877Ic.2629G>ASubstitution - Missense
C17orf66ENSG00000172653ENST00000311880p.D11Dc.33T>CSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.R14451Gc.43351C>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.R8146Gc.24436C>GSubstitution - Missense
NM_003319p.R7954Gc.23860C>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.Y9101Sc.27302A>CSubstitution - Missense
ENST00000356127p.Y9101Sc.27302A>CSubstitution - Missense
ENST00000356127p.G11980Vc.35939G>TSubstitution - Missense
NM_003319p.G5483Vc.16448G>TSubstitution - Missense
KLHL29ENSG00000119771ENST00000486442p.G785Gc.2355G>ASubstitution - coding silent
KLHL29ENSG00000119771ENST00000288548p.G564Gc.1692G>ASubstitution - coding silent
NBEAL1ENSG00000144426ENST00000449802p.T2381Sc.7141A>TSubstitution - Missense
ENST00000388944p.T1091Sc.3271A>TSubstitution - Missense
PASKENSG00000115687ENST00000234040p.L351Lc.1053C>TSubstitution - coding silent
IMPG2ENSG00000081148ENST00000193391p.E340Dc.1020A>TSubstitution - Missense
ITGADENSG00000156886ENST00000389202p.E721Ec.2163G>ASubstitution - coding silent
SLX4ENSG00000188827ENST00000294008p.G292Sc.874G>ASubstitution - Missense
ZNF677ENSG00000197928ENST00000333952p.Y573Yc.1719T>CSubstitution - coding silent
LAMA5ENSG00000130702ENST00000252999p.R1780Rc.5340C>TSubstitution - coding silent
RTEL1ENSG00000258366ENST00000370018p.P730Pc.2190C>ASubstitution - coding silent
RTEL1ENSG00000258366ENST00000508582p.P754Pc.2262C>ASubstitution - coding silent
SLC17A9ENSG00000101194ENST00000370351p.L415fs*12c.1244_1253del10Deletion - Frameshift
TPTEENSG00000166157ENST00000361285p.R62Lc.185G>TSubstitution - Missense
TPTEENSG00000166157ENST00000298232p.R44Lc.131G>TSubstitution - Missense
THOC5ENSG00000100296ENST00000397871p.R599Wc.1795C>TSubstitution - Missense
ENST00000322472p.P182Ac.544C>GSubstitution - Missense
TTC27ENSG00000018699ENST00000317907p.G562Gc.1686G>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T3268Tc.9804C>TSubstitution - coding silent
ENST00000405167p.T2708Tc.8124C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T2708Tc.8124C>TSubstitution - coding silent
SH3TC1ENSG00000125089ENST00000245105p.S472Pc.1414T>CSubstitution - Missense
NM_006904p.P3623Sc.10867C>TSubstitution - Missense
PRKDCENSG00000253729ENST00000314191p.P3622Sc.10864C>TSubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.E160*c.478G>TSubstitution - Nonsense
CCDC22ENSG00000101997ENST00000376227p.R505Wc.1513C>TSubstitution - Missense
A1BGENSG00000121410ENST00000263100p.?c.910+7C>AUnknown
SLC39A11ENSG00000133195ENST00000255559p.?c.109-1G>CUnknown
ARPP21ENSG00000172995ENST00000187397p.Q51Kc.151C>ASubstitution - Missense
GRID2ENSG00000152208ENST00000282020p.Q182Kc.544C>ASubstitution - Missense
ZNF619ENSG00000177873ENST00000447116p.Y339Fc.1016A>TSubstitution - Missense
ZNF619ENSG00000177873ENST00000314686p.Y283Fc.848A>TSubstitution - Missense
ENSG00000172901ENST00000357872p.E110*c.328G>TSubstitution - Nonsense
MAT2AENSG00000168906ENST00000306434p.K53*c.157A>TSubstitution - Nonsense
LOXL3ENSG00000115318ENST00000264094p.?c.1823+8G>AUnknown
LBX2ENSG00000179528ENST00000460508p.E141Ec.423G>ASubstitution - coding silent
NM_152536.2p.T497Kc.1490C>ASubstitution - Missense
ANK2ENSG00000145362ENST00000357077p.D1911Ec.5733C>ASubstitution - Missense
PITX2ENSG00000164093ENST00000354925p.S280Nc.839G>ASubstitution - Missense
PCDH10ENSG00000138650ENST00000264360p.Q686fs*94c.2054_2109del56Deletion - Frameshift
PRDM9ENSG00000164256ENST00000296682p.G884Wc.2650G>TSubstitution - Missense
KIAA1244ENSG00000112379ENST00000251691p.N1727Nc.5181C>TSubstitution - coding silent
NM_020340.2p.N1656Nc.4968C>TSubstitution - coding silent
ADAMTS12ENSG00000151388ENST00000504830p.P1461Pc.4383C>ASubstitution - coding silent
SASH1ENSG00000111961ENST00000367467p.?c.1285-1G>TUnknown
RPS6KA2ENSG00000071242ENST00000265678p.D542Yc.1624G>TSubstitution - Missense
RPS6KA2ENSG00000071242ENST00000510118p.D567Yc.1699G>TSubstitution - Missense
STEAP1BENSG00000105889ENST00000404369p.Y190Fc.569A>TSubstitution - Missense
ENST00000222607p.Y171Fc.512A>TSubstitution - Missense
GSAPENSG00000186088ENST00000257626p.S217Sc.651A>GSubstitution - coding silent
PLEKHA8ENSG00000106086ENST00000449726p.D97Vc.290A>TSubstitution - Missense
PLEKHA8ENSG00000106086ENST00000258679p.D97Vc.290A>TSubstitution - Missense
CHN2ENSG00000106069ENST00000409041p.C161Sc.481T>ASubstitution - Missense
ENST00000297027p.E111*c.331G>TSubstitution - Nonsense
NHSENSG00000188158ENST00000398097p.G1116Vc.3347G>TSubstitution - Missense
S100GENSG00000169906ENST00000380200p.?c.135+10C>AUnknown
H2AFB1ENSG00000198082ENST00000354461p.Q76Qc.228G>ASubstitution - coding silent
JOSD2ENSG00000161677ENST00000391815p.V178Lc.532G>CSubstitution - Missense
BPIFB3ENSG00000186190ENST00000375494p.T166Tc.498G>TSubstitution - coding silent
CPNE1ENSG00000214078ENST00000317677p.K187Qc.559A>CSubstitution - Missense
SOGA1ENSG00000149639ENST00000237536p.C992Yc.2975G>ASubstitution - Missense
NDRG3ENSG00000101079ENST00000349004p.N263Sc.788A>GSubstitution - Missense
SALL4ENSG00000101115ENST00000217086p.E444*c.1330G>TSubstitution - Nonsense
GRM8ENSG00000179603ENST00000339582p.G50fs*18c.145delGDeletion - Frameshift
PTPRZ1ENSG00000106278ENST00000393386p.G37Gc.111C>ASubstitution - coding silent
SMOENSG00000128602ENST00000249373p.?c.538-10C>AUnknown
ENST00000380086p.A483Ac.1449T>CSubstitution - coding silent
RUSC2ENSG00000198853ENST00000361226p.H369Rc.1106A>GSubstitution - Missense
EXTL3ENSG00000012232ENST00000220562p.R510Lc.1529G>TSubstitution - Missense
CNBD1ENSG00000176571ENST00000518476p.E333Qc.997G>CSubstitution - Missense
SLC7A13ENSG00000164893ENST00000419776p.L114Ic.340C>ASubstitution - Missense
CCNE2ENSG00000175305ENST00000520509p.L278Fc.832C>TSubstitution - Missense
RAD54BENSG00000197275ENST00000336148p.S380Ic.1139G>TSubstitution - Missense
TANC2ENSG00000170921ENST00000389520p.S1829Lc.5486C>TSubstitution - Missense
SLC47A2ENSG00000180638ENST00000350657p.H107Nc.319C>ASubstitution - Missense
CBX2ENSG00000173894ENST00000310942p.S120delSc.346_348delTCCDeletion - In frame
ENTHD2ENSG00000167302ENST00000300714p.R121Cc.361C>TSubstitution - Missense
KRTAP10-3ENSG00000212935ENST00000391620p.S25Nc.74G>ASubstitution - Missense
PWP2ENSG00000241945ENST00000291576p.R526Cc.1576C>TSubstitution - Missense
POFUT2ENSG00000186866ENST00000331343p.?c.1013-5T>AUnknown
ROBO2ENSG00000185008ENST00000461745p.Q470Hc.1410A>TSubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.P897Pc.2691G>ASubstitution - coding silent
ROBO1ENSG00000169855ENST00000495273p.A862Sc.2584G>TSubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.A898Sc.2692G>TSubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.A898Sc.2692G>TSubstitution - Missense
ROBO1ENSG00000169855ENST00000495273p.P861Pc.2583G>ASubstitution - coding silent
ROBO1ENSG00000169855ENST00000464233p.P897Pc.2691G>ASubstitution - coding silent
ABCC12ENSG00000140798ENST00000311303p.R122Pc.365G>CSubstitution - Missense
ART3ENSG00000156219ENST00000349321p.Y131Cc.392A>GSubstitution - Missense
CES5AENSG00000159398ENST00000319165p.?c.705+3G>CUnknown
GSDMAENSG00000167914ENST00000301659p.S390Pc.1168T>CSubstitution - Missense
GPR179ENSG00000188888ENST00000342292p.N75Tc.224A>CSubstitution - Missense
APPENSG00000142192ENST00000346798p.K395Nc.1185A>TSubstitution - Missense
OTOP1ENSG00000163982ENST00000296358p.H205Yc.613C>TSubstitution - Missense
CHRNA9ENSG00000174343ENST00000310169p.D95Vc.284A>TSubstitution - Missense
QARSENSG00000172053ENST00000306125p.L59Fc.177G>TSubstitution - Missense
GABRA2ENSG00000151834ENST00000356504p.S450fs*>2c.1347delCDeletion - Frameshift
MST1RENSG00000164078ENST00000296474p.T658Tc.1974C>TSubstitution - coding silent
ENST00000273612p.E126Qc.376G>CSubstitution - Missense
SVOPLENSG00000157703ENST00000288513p.D119Yc.355G>TSubstitution - Missense
ENST00000361585p.T147Ic.440C>TSubstitution - Missense
DYNC1I1ENSG00000158560ENST00000324972p.A403Tc.1207G>ASubstitution - Missense
GLI4ENSG00000250571ENST00000340042p.F192Lc.576C>GSubstitution - Missense
ENST00000356067p.?c.1416+5G>CUnknown
ENST00000355436_v68p.C594Gc.1780T>GSubstitution - Missense
ENST00000355436p.C594Gc.1780T>GSubstitution - Missense
ENST00000400156_v68p.?c.140-4A>GUnknown
IMPA1ENSG00000133731ENST00000449740p.K118Mc.353A>TSubstitution - Missense
IMPA1ENSG00000133731ENST00000256108p.K59Mc.176A>TSubstitution - Missense
DEFB4AENSG00000171711ENST00000302247p.S9Sc.27G>ASubstitution - coding silent
TCEB3CENSG00000183791ENST00000330682p.A302Tc.904G>ASubstitution - Missense
EPB41L3ENSG00000082397ENST00000341928p.S877Rc.2631C>ASubstitution - Missense
SERPINB4ENSG00000206073ENST00000341074p.V328Vc.984C>ASubstitution - coding silent
HCKENSG00000101336ENST00000538448p.?c.620-10T>CUnknown
TPX2ENSG00000088325ENST00000300403p.?c.1833+3A>TUnknown
TGM6ENSG00000166948ENST00000202625p.G84Dc.251G>ASubstitution - Missense
POTEHENSG00000198062ENST00000343518p.E167*c.499G>TSubstitution - Nonsense
TTNENSG00000155657ENST00000359218p.S24674Sc.74022C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.R14451Lc.43352G>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.R8079Lc.24236G>TSubstitution - Missense
NM_003319p.R7954Lc.23861G>TSubstitution - Missense
HPXENSG00000110169ENST00000265983p.P140Qc.419C>ASubstitution - Missense
MACF1ENSG00000127603ENST00000361689p.R5074Rc.15222G>ASubstitution - coding silent
RPRD2ENSG00000163125ENST00000369068p.R780Lc.2339G>TSubstitution - Missense
HIST2H2BFENSG00000203814ENST00000369167p.S56Wc.167C>GSubstitution - Missense
TAS1R3ENSG00000169962ENST00000339381p.A127Ac.381C>ASubstitution - coding silent
TCHHL1ENSG00000182898ENST00000368806p.K325Nc.975G>CSubstitution - Missense
JMJD7ENSG00000243789ENST00000397299p.?c.530-10C>TUnknown
PLA2G4BENSG00000243708ENST00000542534p.?c.530-10C>TUnknown
DUSP27ENSG00000198842ENST00000361200p.V93Lc.277G>TSubstitution - Missense
VPS39ENSG00000166887ENST00000318006p.S547Lc.1640C>TSubstitution - Missense
SPTBN5ENSG00000137877ENST00000320955p.E3129Kc.9385G>ASubstitution - Missense
DUOX1ENSG00000137857ENST00000389037p.E809Dc.2427G>TSubstitution - Missense
DUOXA2ENSG00000140274ENST00000323030p.P203Lc.608C>TSubstitution - Missense
AGBL4ENSG00000186094ENST00000371836p.?c.635-5C>TUnknown
USP24ENSG00000162402ENST00000294383p.?c.7800+4_7800+5insTUnknown
ARF6ENSG00000165527ENST00000298316p.G140Vc.419G>TSubstitution - Missense
ATG2BENSG00000066739ENST00000359933p.?c.581+4A>GUnknown
OVCH1ENSG00000187950ENST00000318184p.R245fs*11c.734delGDeletion - Frameshift
CACNA1CENSG00000151067ENST00000344100p.I1032Ic.3096C>ASubstitution - coding silent
CACNA1CENSG00000151067ENST00000399617p.I1032Ic.3096C>ASubstitution - coding silent
FLGENSG00000143631ENST00000368799p.G1253Ec.3758G>ASubstitution - Missense
ZC3H11AENSG00000058673ENST00000367210p.K553Rc.1658A>GSubstitution - Missense
PM20D1ENSG00000162877ENST00000367136p.S23Yc.68C>ASubstitution - Missense
PRTGENSG00000166450ENST00000389286p.R340Pc.1019G>CSubstitution - Missense
CCDC62ENSG00000130783ENST00000341952p.E238Qc.712G>CSubstitution - Missense
SFSWAPENSG00000061936ENST00000261674p.I387Vc.1159A>GSubstitution - Missense
RIMBP2ENSG00000060709ENST00000261655p.H396Nc.1186C>ASubstitution - Missense
FZD10ENSG00000111432ENST00000229030p.Q561Rc.1682A>GSubstitution - Missense
OR2T12ENSG00000177201ENST00000317996p.A252Sc.754G>TSubstitution - Missense
OR2L3ENSG00000198128ENST00000359959p.C178Yc.533G>ASubstitution - Missense
OR11L1ENSG00000197591ENST00000355784p.A119Sc.355G>TSubstitution - Missense
MCOLN3ENSG00000055732ENST00000370589p.I362Ic.1086C>ASubstitution - coding silent
ZZZ3ENSG00000036549ENST00000370801p.G18Gc.54C>TSubstitution - coding silent
ARID4AENSG00000032219ENST00000355431p.E162Dc.486G>CSubstitution - Missense
PLEKHH1ENSG00000054690ENST00000329153p.E1082Dc.3246G>CSubstitution - Missense
PLEKHH1ENSG00000054690ENST00000329153p.E1121Dc.3363G>CSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.E4233*c.12697G>TSubstitution - Nonsense
CEP128ENSG00000100629ENST00000327841p.S160Rc.480C>GSubstitution - Missense
DICER1ENSG00000100697ENST00000343455p.D1375Nc.4123G>ASubstitution - Missense
UNC79ENSG00000133958ENST00000553484p.V274Mc.820G>ASubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.G4133delGc.12398_12400delGAGDeletion - In frame
HERC1ENSG00000103657ENST00000443617p.G4133delGc.12398_12400delGAGDeletion - In frame
C2CD4AENSG00000198535ENST00000355522p.R58Lc.173G>TSubstitution - Missense
CLMNENSG00000165959ENST00000298912p.E593Dc.1779G>TSubstitution - Missense
DYNC1H1ENSG00000197102ENST00000360184p.E4328*c.12982G>TSubstitution - Nonsense
TMEM255BENSG00000184497ENST00000375353p.V260Fc.778G>TSubstitution - Missense
GOLGA8NENSG00000232653ENST00000448387p.K16fs*11c.43_44delAADeletion - Frameshift
PLCB2ENSG00000137841ENST00000260402p.S612Sc.1836C>ASubstitution - coding silent
ACTC1ENSG00000159251ENST00000290378p.H373Hc.1119C>TSubstitution - coding silent
ATP2C2ENSG00000064270ENST00000262429p.L870Lc.2610C>TSubstitution - coding silent
KCNG4ENSG00000168418ENST00000308251p.I228Vc.682A>GSubstitution - Missense
WNT9BENSG00000158955ENST00000575372p.?c.353-8C>GUnknown
ANKEF1ENSG00000132623ENST00000378392p.?c.547-6G>TUnknown
TTNENSG00000155657ENST00000360870p.V4062Lc.12184G>TSubstitution - Missense
COL5A2ENSG00000204262ENST00000374866p.?c.3148-7T>CUnknown
ARMC1ENSG00000104442ENST00000276569p.Q20Lc.59A>TSubstitution - Missense
ACTRT1ENSG00000123165ENST00000371124p.S158Cc.472A>TSubstitution - Missense
ZNF782ENSG00000196597ENST00000481138p.R497*c.1489C>TSubstitution - Nonsense
H2BFMENSG00000101812ENST00000243297p.P165Rc.494C>GSubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.V3591Vc.10773C>ASubstitution - coding silent
ITGB4ENSG00000132470ENST00000339591p.D955Dc.2865C>TSubstitution - coding silent
EXOC7ENSG00000182473ENST00000357231p.T159Tc.477G>TSubstitution - coding silent
TSHZ3ENSG00000121297ENST00000240587p.P767Qc.2300C>ASubstitution - Missense
GPR32ENSG00000142511ENST00000270590p.G247Cc.739G>TSubstitution - Missense
BTBD1ENSG00000064726ENST00000261721p.V362Ic.1084G>ASubstitution - Missense
WDR73ENSG00000177082ENST00000434634p.T356Tc.1068T>ASubstitution - coding silent
P4HA3ENSG00000149380ENST00000331597p.Y69Yc.207C>TSubstitution - coding silent
INPPL1ENSG00000165458ENST00000298229p.K779Nc.2337G>TSubstitution - Missense
NM_001380.2p.Y1541Yc.4623C>TSubstitution - coding silent
TECPR2ENSG00000196663ENST00000359520p.W844Cc.2532G>TSubstitution - Missense
CHD8ENSG00000100888ENST00000399982p.P1877Pc.5631C>TSubstitution - coding silent
ARHGEF40ENSG00000165801ENST00000298694p.R870Lc.2609G>TSubstitution - Missense
OR10W1ENSG00000172772ENST00000395079p.V115Ec.344T>ASubstitution - Missense
PZPENSG00000126838ENST00000261336p.Q1078Kc.3232C>ASubstitution - Missense
FADDENSG00000168040ENST00000301838p.L75Vc.223C>GSubstitution - Missense
HALENSG00000084110ENST00000261208p.S254Gc.760A>GSubstitution - Missense
C1orf101ENSG00000179397ENST00000366534p.D526Nc.1576G>ASubstitution - Missense
PLCH2ENSG00000149527ENST00000378486p.L550fs*5c.1647_1654delGCTCGGACDeletion - Frameshift
XM_371214.3p.L397fs*5c.1188_1195delGCTCGGACDeletion - Frameshift
WDR64ENSG00000162843ENST00000366552p.?c.276+4G>TUnknown
RGS7ENSG00000182901ENST00000366565p.R329Qc.986G>ASubstitution - Missense
RGS7ENSG00000182901ENST00000407727p.R329Qc.986G>ASubstitution - Missense
KIF26BENSG00000162849ENST00000407071p.D632Yc.1894G>TSubstitution - Missense
KIF26BENSG00000162849ENST00000407071p.D632Yc.1894G>TSubstitution - Missense
KIAA1598ENSG00000187164ENST00000355371p.Q575Kc.1723C>ASubstitution - Missense
MYBPC1ENSG00000196091ENST00000360610p.G1126Gc.3378G>ASubstitution - coding silent
TXNRD1ENSG00000198431ENST00000503506p.?c.1432-2A>GUnknown
PUS7LENSG00000129317ENST00000344862p.D379Hc.1135G>CSubstitution - Missense
NBEAENSG00000172915ENST00000310336p.?c.5521+9C>GUnknown
ENST00000380640p.?c.63-6T>CUnknown
CSMD2ENSG00000121904ENST00000241312p.G85Cc.253G>TSubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.G125Cc.373G>TSubstitution - Missense
THRAP3ENSG00000054118ENST00000354618p.M453Ic.1359G>ASubstitution - Missense
CHRNA7ENSG00000175344ENST00000306901p.S56Tc.166T>ASubstitution - Missense
NOS1APENSG00000198929ENST00000361897p.M155Vc.463A>GSubstitution - Missense
FCGR2BENSG00000072694ENST00000358671p.Q63Qc.189G>ASubstitution - coding silent
NTMENSG00000182667ENST00000374786p.R65Pc.194G>CSubstitution - Missense
NTMENSG00000182667ENST00000539799p.R65Pc.194G>CSubstitution - Missense
ENST00000318117p.P107Sc.319C>TSubstitution - Missense
HSD17B7ENSG00000132196ENST00000254521p.F272Lc.816C>ASubstitution - Missense
PAPPA2ENSG00000116183ENST00000367661p.P647Pc.1941C>ASubstitution - coding silent
TDRD5ENSG00000162782ENST00000367614p.P696Ac.2086C>GSubstitution - Missense
CACNA1EENSG00000198216ENST00000367573p.S2032*c.6095C>ASubstitution - Nonsense
TRHDEENSG00000072657ENST00000261180p.V587Ec.1760T>ASubstitution - Missense
TRHDEENSG00000072657ENST00000261180p.F311Ic.931T>ASubstitution - Missense
TMPRSS5ENSG00000166682ENST00000299882p.E18Dc.54G>TSubstitution - Missense
ENST00000316851_v65p.?c.2427-5T>CUnknown
ANKK1ENSG00000170209ENST00000303941p.?c.683-6T>AUnknown
BCO2ENSG00000197580ENST00000357685p.K96Kc.288G>ASubstitution - coding silent
VPS11ENSG00000160695ENST00000300793p.L909Fc.2727G>TSubstitution - Missense
CASP12ENSG00000204403ENST00000422698p.N204Kc.612C>ASubstitution - Missense
FANCFENSG00000183161ENST00000327470p.L86Fc.256C>TSubstitution - Missense
FBXO3ENSG00000110429ENST00000265651p.Y363Sc.1088A>CSubstitution - Missense
IFITM2ENSG00000185201ENST00000399817p.A78Ac.234G>ASubstitution - coding silent
MYBPHLENSG00000221986ENST00000357155p.I233Ic.699C>TSubstitution - coding silent
SLC25A24ENSG00000085491ENST00000565488p.W372*c.1116G>ASubstitution - Nonsense
SLC25A24ENSG00000085491ENST00000370041p.K257Kc.771G>ASubstitution - coding silent
CFHR4ENSG00000134365ENST00000367416p.Q528Kc.1582C>ASubstitution - Missense
KCNT2ENSG00000162687ENST00000294725p.H185Yc.553C>TSubstitution - Missense
ABCC1ENSG00000103222ENST00000399410p.G683*c.2047G>TSubstitution - Nonsense
XYLT1ENSG00000103489ENST00000261381p.S729Gc.2185A>GSubstitution - Missense
MAP3K9ENSG00000006432ENST00000555993p.V243Lc.727G>TSubstitution - Missense
SYNMENSG00000182253ENST00000336292p.A894Ac.2682G>ASubstitution - coding silent
SYNMENSG00000182253ENST00000328642p.A894Ac.2682G>ASubstitution - coding silent
ATF7IP2ENSG00000166669ENST00000396560p.K81_N82delKNc.237_242delTAATAADeletion - In frame
ENST00000426033p.R1915*c.5743C>TSubstitution - Nonsense
ENST00000242475p.T70Nc.209C>ASubstitution - Missense
DDX50ENSG00000107625ENST00000373585p.I553Mc.1659A>GSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.E298*c.892G>TSubstitution - Nonsense
TP53ENSG00000141510ENST00000269305p.E298*c.892G>TSubstitution - Nonsense
OR5L1ENSG00000186117ENST00000333973p.P262Sc.784C>TSubstitution - Missense
CFHR4ENSG00000134365ENST00000367416p.Q528Rc.1583A>GSubstitution - Missense
STK16ENSG00000115661ENST00000409638p.L80Lc.240C>TSubstitution - coding silent
PIK3C3ENSG00000078142ENST00000262039p.R174Hc.521G>ASubstitution - Missense
KLHL14ENSG00000197705ENST00000359358p.G69Vc.206G>TSubstitution - Missense
ITIH6ENSG00000102313ENST00000218436p.G787Cc.2359G>TSubstitution - Missense
ASXL3ENSG00000141431ENST00000269197p.R1065Rc.3195G>TSubstitution - coding silent
MRGPREENSG00000184350ENST00000389832p.L84Rc.251T>GSubstitution - Missense
TUBA3CENSG00000198033ENST00000400113p.E55Ac.164A>CSubstitution - Missense
ERCC6ENSG00000225830ENST00000355832p.A62Tc.184G>ASubstitution - Missense
ENST00000373468p.F286Lc.858C>ASubstitution - Missense
C11orf63ENSG00000109944ENST00000227349p.T381Tc.1143G>ASubstitution - coding silent
ENST00000305759p.T628Mc.1883C>TSubstitution - Missense
ITGB4ENSG00000132470ENST00000200181p.D955Dc.2865C>TSubstitution - coding silent
SALL2ENSG00000165821ENST00000327430p.P869Lc.2606C>TSubstitution - Missense
NECAB2ENSG00000103154ENST00000305202p.E297Kc.889G>ASubstitution - Missense
TP53ENSG00000141510ENST00000455263p.E298*c.892G>TSubstitution - Nonsense
TDGENSG00000139372ENST00000392872p.H179Hc.537C>TSubstitution - coding silent
ENST00000358674p.D661Hc.1981G>CSubstitution - Missense
SYT14ENSG00000143469ENST00000472886p.P237Tc.709C>ASubstitution - Missense
ITGA5ENSG00000161638ENST00000293379p.Q932Kc.2794C>ASubstitution - Missense
UBL7ENSG00000138629ENST00000361351p.?c.304+10G>TUnknown
NRG4ENSG00000169752ENST00000566417p.G21fs*4c.60_63delGGGGDeletion - Frameshift
CSPG4ENSG00000173546ENST00000308508p.I1068Mc.3204C>GSubstitution - Missense
PCDH9ENSG00000184226ENST00000377865p.K937Mc.2810A>TSubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.P798Qc.2393C>ASubstitution - Missense
COL11A1ENSG00000060718ENST00000370096p.P786Qc.2357C>ASubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.?c.1882-7T>AUnknown
ENST00000359888p.P25Rc.74C>GSubstitution - Missense
RETENSG00000165731ENST00000355710p.M1109Tc.3326T>CSubstitution - Missense
CAPN8ENSG00000203697ENST00000366872p.H516Qc.1548C>ASubstitution - Missense
HHIPL2ENSG00000143512ENST00000343410p.R231Cc.691C>TSubstitution - Missense
HSPG2ENSG00000142798ENST00000374695p.?c.9889+4A>TUnknown
SH2D4BENSG00000178217ENST00000470604p.F399Lc.1197C>ASubstitution - Missense
ZCCHC24ENSG00000165424ENST00000372336p.?c.612+7C>TUnknown
KIF20BENSG00000138182ENST00000416354p.Q941Hc.2823G>TSubstitution - Missense
RRP12ENSG00000052749ENST00000370992p.N382Yc.1144A>TSubstitution - Missense
OR8B3ENSG00000196661ENST00000354597p.C189Sc.565T>ASubstitution - Missense
OR10D3ENSG00000197309ENST00000318666p.R90Qc.269G>ASubstitution - Missense
OR6M1ENSG00000196099ENST00000309154p.C125*c.375C>ASubstitution - Nonsense
ENST00000349637p.A3582Ec.10745C>ASubstitution - Missense
TTC17ENSG00000052841ENST00000039989p.H671Yc.2011C>TSubstitution - Missense
LRRC4CENSG00000148948ENST00000278198p.M243Ic.729G>TSubstitution - Missense
TRIM44ENSG00000166326ENST00000299413p.S107Tc.319T>ASubstitution - Missense
LDLRAD3ENSG00000179241ENST00000315571p.R41Lc.122G>TSubstitution - Missense
FHAD1ENSG00000142621ENST00000375999p.I1259Mc.3777C>GSubstitution - Missense
OR6N2ENSG00000188340ENST00000339258p.P287Tc.859C>ASubstitution - Missense
ENST00000368148p.L582Mc.1744T>ASubstitution - Missense
CD1BENSG00000158485ENST00000368168p.F76Yc.227T>ASubstitution - Missense
CLEC6AENSG00000205846ENST00000382073p.E168Ac.503A>CSubstitution - Missense
CLEC6AENSG00000205846ENST00000382073p.N170Yc.508A>TSubstitution - Missense
SU_OBSCN.1p.R2866Qc.8597G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.R2812Qc.8435G>ASubstitution - Missense
DISC1ENSG00000162946ENST00000366633p.R127Tc.380G>CSubstitution - Missense
DISC1ENSG00000162946ENST00000366636p.R127Tc.380G>CSubstitution - Missense
COG2ENSG00000135775ENST00000366669p.K378Nc.1134G>TSubstitution - Missense
PIK3C2GENSG00000139144ENST00000433979p.I232Tc.695T>CSubstitution - Missense
PFKMENSG00000152556ENST00000359794p.Y155Cc.464A>GSubstitution - Missense
ADAMTSL3ENSG00000156218ENST00000286744p.?c.1615+10T>AUnknown


COSMIC

3 mutations reported
2 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
TP53ENSG00000141510ENST00000269305p.E298*c.?Substitution - Nonsense23980093
CDKN2AENSG00000147889ENST00000304494p.0?c.1_471del471Whole gene deletion8521414
CDKN2AENSG00000147889ENST00000304494p.?c.1_457del457Unknown7834619