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SK-MEL-31 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

953 mutations reported
346 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
ID3ENSG00000117318ENST00000374561p.E12Qc.34G>CSubstitution - Missense
CLECL1ENSG00000184293ENST00000327839p.M1Ic.3G>ASubstitution - Missense
AHNAKENSG00000124942ENST00000378024p.D4819Ec.14457T>GSubstitution - Missense
NYNRINENSG00000205978ENST00000382554p.L1636Ic.4906C>ASubstitution - Missense
OR4K15ENSG00000169488ENST00000305051p.E35Kc.103G>ASubstitution - Missense
ENST00000368526p.?c.722-6C>TUnknown
MYO7AENSG00000137474ENST00000409709p.F2125Fc.6375C>TSubstitution - coding silent
ARAP1ENSG00000186635ENST00000393609p.V325Ic.973G>ASubstitution - Missense
ARAP1ENSG00000186635ENST00000334211p.V80Ic.238G>ASubstitution - Missense
ENSG00000187811ENST00000343767p.R14Hc.41G>ASubstitution - Missense
ENST00000343767_v68p.R14Hc.41G>ASubstitution - Missense
PLEKHA5ENSG00000052126ENST00000299275p.?c.2985+4G>AUnknown
NM_017449p.G413Gc.1239C>TSubstitution - coding silent
EPHB2ENSG00000133216ENST00000374627p.G407Gc.1221C>TSubstitution - coding silent
SU_OBSCN.1p.Y2225Hc.6673T>CSubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.Y2508Hc.7522T>CSubstitution - Missense
FAM90A1ENSG00000171847ENST00000307435p.K124Nc.372A>CSubstitution - Missense
ACSS3ENSG00000111058ENST00000548058p.L576Fc.1726C>TSubstitution - Missense
AGBL2ENSG00000165923ENST00000298861p.R877Gc.2629A>GSubstitution - Missense
OR52B4ENSG00000221996ENST00000408920p.P32Sc.94C>TSubstitution - Missense
PKP3ENSG00000184363ENST00000331563p.L675Lc.2025G>CSubstitution - coding silent
MICAL2ENSG00000133816ENST00000379612p.A944Ac.2832G>CSubstitution - coding silent
ZNF678ENSG00000181450ENST00000343776p.K521fs*>5c.1558delADeletion - Frameshift
TMEM63AENSG00000196187ENST00000366835p.D3Dc.9C>TSubstitution - coding silent
TAF1AENSG00000143498ENST00000352967p.A212Vc.635C>TSubstitution - Missense
RAP1GAPENSG00000076864ENST00000374765p.F493Fc.1479C>TSubstitution - coding silent
ZNF33BENSG00000196693ENST00000359467p.C675Fc.2024G>TSubstitution - Missense
NAMPTLENSG00000229644ENST00000440465p.*473*c.1419G>ASubstitution - coding silent
ALKBH2ENSG00000189046ENST00000343075p.L138Vc.412C>GSubstitution - Missense
SETDB2ENSG00000136169ENST00000317257p.S80Sc.240C>TSubstitution - coding silent
ENST00000338294p.N18Dc.52A>GSubstitution - Missense
ENST00000338294p.G16Gc.48T>CSubstitution - coding silent
NLRP4ENSG00000160505ENST00000587891p.G862Ec.2585G>ASubstitution - Missense
SEMG2ENSG00000124157ENST00000372769p.E403Kc.1207G>ASubstitution - Missense
CD300EENSG00000186407ENST00000426295p.R92Qc.275G>ASubstitution - Missense
SWSAP1ENSG00000173928ENST00000312423p.R65Hc.194G>ASubstitution - Missense
NUAK1ENSG00000074590ENST00000261402p.S367Lc.1100C>TSubstitution - Missense
BRF1ENSG00000185024ENST00000440513p.E469Kc.1405G>ASubstitution - Missense
MANEAENSG00000172469ENST00000358812p.Y254Cc.761A>GSubstitution - Missense
FAT4ENSG00000196159ENST00000394329p.R2203Wc.6607C>TSubstitution - Missense
ENST00000330166p.R2203Wc.6607C>TSubstitution - Missense
C21orf62ENSG00000205929ENST00000536776p.T85Tc.255G>ASubstitution - coding silent
ENST00000356127p.S5208Sc.15624C>TSubstitution - coding silent
DUXAENSG00000258873ENST00000554048p.E163Kc.487G>ASubstitution - Missense
ADCYAP1ENSG00000141433ENST00000450565p.E90Kc.268G>ASubstitution - Missense
SETBP1ENSG00000152217ENST00000282030p.I1404Ic.4212C>TSubstitution - coding silent
TTC23ENSG00000103852ENST00000394132p.P442Pc.1326C>TSubstitution - coding silent
CDC27ENSG00000004897ENST00000066544p.L432Sc.1295T>CSubstitution - Missense
C17orf53ENSG00000125319ENST00000319977p.P339Pc.1017C>TSubstitution - coding silent
EIF2AK3ENSG00000172071ENST00000303236p.L684Lc.2052C>TSubstitution - coding silent
GRM8ENSG00000179603ENST00000339582p.G149Gc.447C>TSubstitution - coding silent
SLITRK3ENSG00000121871ENST00000241274p.P964Pc.2892G>ASubstitution - coding silent
TLL1ENSG00000038295ENST00000061240p.T1011Tc.3033C>ASubstitution - coding silent
NR2F1ENSG00000175745ENST00000327111p.F260Fc.780C>TSubstitution - coding silent
OR5AS1ENSG00000181785ENST00000313555p.E313Kc.937G>ASubstitution - Missense
DDX60ENSG00000137628ENST00000393743p.R737Wc.2209C>TSubstitution - Missense
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense
ENST00000299644p.R265Pc.794G>CSubstitution - Missense
ENST00000299644p.K336fs*10c.999_1000insTGTTInsertion - Frameshift
MROH2BENSG00000171495ENST00000399564p.C686Sc.2056T>ASubstitution - Missense
MROH2BENSG00000171495ENST00000399564p.E296Kc.886G>ASubstitution - Missense
UGT3A1ENSG00000145626ENST00000274278p.S15Fc.44C>TSubstitution - Missense
UGT3A1ENSG00000145626ENST00000274278p.L455Lc.1365G>ASubstitution - coding silent
VWA9ENSG00000138614ENST00000395644p.S22Fc.65C>TSubstitution - Missense
VWA9ENSG00000138614ENST00000567744p.S58Fc.173C>TSubstitution - Missense
LMO4ENSG00000143013ENST00000370544p.P95Lc.284C>TSubstitution - Missense
CLCA2ENSG00000137975ENST00000370565p.W739Cc.2217G>TSubstitution - Missense
FCN3ENSG00000142748ENST00000270879p.Y207Cc.620A>GSubstitution - Missense
NOTCH2NLENSG00000213240ENST00000362074p.F135Vc.403T>GSubstitution - Missense
NOTCH2NLENSG00000213240ENST00000344859p.F135Vc.403T>GSubstitution - Missense
NBPF9ENSG00000168614ENST00000440491p.R117Qc.350G>ASubstitution - Missense
ATAD3CENSG00000215915ENST00000378785p.R308Hc.923G>ASubstitution - Missense
CCDC90BENSG00000137500ENST00000529689p.A86Ac.258G>ASubstitution - coding silent
PIDDENSG00000177595ENST00000347755p.R878Cc.2632C>TSubstitution - Missense
RFX7ENSG00000181827ENST00000423270p.L1404Lc.4212A>CSubstitution - coding silent
RFX7ENSG00000181827ENST00000317318p.L1307Lc.3921A>CSubstitution - coding silent
DMXL2ENSG00000104093ENST00000251076p.M200Vc.598A>GSubstitution - Missense
IGFN1ENSG00000163395ENST00000335211p.G180Ec.539G>ASubstitution - Missense
CDKL1ENSG00000100490ENST00000395834p.L50Pc.149T>CSubstitution - Missense
CDKL1ENSG00000100490ENST00000395834p.L50Pc.149T>CSubstitution - Missense
SLC1A7ENSG00000162383ENST00000371494p.A366Tc.1096G>ASubstitution - Missense
ZCCHC11ENSG00000134744ENST00000257177p.G1069Gc.3207C>TSubstitution - coding silent
CCDC17ENSG00000159588ENST00000343901p.L314Lc.942C>ASubstitution - coding silent
ENST00000343901_v65p.L314Lc.942C>ASubstitution - coding silent
PLA2G4EENSG00000188089ENST00000413860p.P45Lc.134C>TSubstitution - Missense
GPR161ENSG00000143147ENST00000537209p.L19Qc.56T>ASubstitution - Missense
PRAMEF1ENSG00000116721ENST00000332296p.A43Tc.127G>ASubstitution - Missense
PRAMEF1ENSG00000116721ENST00000332296p.A43Tc.127G>ASubstitution - Missense
ADAM30ENSG00000134249ENST00000369400p.G173Sc.517G>ASubstitution - Missense
SETD1BENSG00000139718ENST00000542440p.S1366Sc.4098C>TSubstitution - coding silent
SZT2ENSG00000198198ENST00000372442p.D971Nc.2911G>ASubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.D971Nc.2911G>ASubstitution - Missense
PPIHENSG00000171960ENST00000304979p.?c.201-9C>TUnknown
PPIHENSG00000171960ENST00000455203p.?c.72-9C>TUnknown
PPIHENSG00000171960ENST00000436387p.?c.111-9C>TUnknown
CST6ENSG00000175315ENST00000312134p.G118Gc.354G>ASubstitution - coding silent
MUS81ENSG00000172732ENST00000308110p.Q292Ec.874C>GSubstitution - Missense
ENST00000359762p.M15Ic.45G>ASubstitution - Missense
SLC22A9ENSG00000149742ENST00000279178p.N394Nc.1182C>TSubstitution - coding silent
KIR3DL1ENSG00000167633ENST00000402254p.V168Ic.502G>ASubstitution - Missense
BFARENSG00000103429ENST00000261658p.P415Sc.1243C>TSubstitution - Missense
SSTR5ENSG00000162009ENST00000397547p.P301Lc.902C>TSubstitution - Missense
TTLL13ENSG00000213471ENST00000438251p.N327Dc.979A>GSubstitution - Missense
SVILENSG00000197321ENST00000355867p.N2051Sc.6152A>GSubstitution - Missense
ACSM2AENSG00000183747ENST00000396104p.N400Nc.1200C>TSubstitution - coding silent
ABCC1ENSG00000103222ENST00000399410p.P448Sc.1342C>TSubstitution - Missense
SLC6A5ENSG00000165970ENST00000525748p.F614Fc.1842C>TSubstitution - coding silent
MRVI1ENSG00000072952ENST00000547195p.P104Pc.312G>ASubstitution - coding silent
BCO2ENSG00000197580ENST00000357685p.T277Rc.830C>GSubstitution - Missense
TPI1ENSG00000111669ENST00000229270p.I17Rc.50T>GSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.L1236Fc.3706C>TSubstitution - Missense
CTSDENSG00000117984ENST00000236671p.R392Hc.1175G>ASubstitution - Missense
KRTAP5-5ENSG00000185940ENST00000399676p.S151Fc.452C>TSubstitution - Missense
EPHA2ENSG00000142627ENST00000358432p.L836Lc.2508C>TSubstitution - coding silent
TEKT2ENSG00000092850ENST00000207457p.?c.156+5G>CUnknown
HMGB1ENSG00000189403ENST00000405805p.K30Qc.88A>CSubstitution - Missense
GPR12ENSG00000132975ENST00000381436p.S189Gc.565A>GSubstitution - Missense
AKAP3ENSG00000111254ENST00000545990p.D697Nc.2089G>ASubstitution - Missense
ENST00000379256p.L58Lc.174C>GSubstitution - coding silent
PLCH2ENSG00000149527ENST00000378486p.V807Mc.2419G>ASubstitution - Missense
XM_371214.3p.V654Mc.1960G>ASubstitution - Missense
SONENSG00000159140ENST00000300278p.*2304Qc.6910T>CNonstop extension
CHODLENSG00000154645ENST00000338326p.G25Rc.73G>ASubstitution - Missense
MED1ENSG00000125686ENST00000300651p.I311Fc.931A>TSubstitution - Missense
C17orf85ENSG00000074356ENST00000389005p.P479Pc.1437A>GSubstitution - coding silent
C16orf71ENSG00000166246ENST00000299320p.P185Pc.555C>GSubstitution - coding silent
CCDC158ENSG00000163749ENST00000388914p.Q1070Qc.3210G>ASubstitution - coding silent
KDM3AENSG00000115548ENST00000409556p.N755Kc.2265C>ASubstitution - Missense
KDM3AENSG00000115548ENST00000409556p.K925Tc.2774A>CSubstitution - Missense
KDM3AENSG00000115548ENST00000409556p.K925Tc.2774A>CSubstitution - Missense
ST3GAL5ENSG00000115525ENST00000393808p.S245Tc.734G>CSubstitution - Missense
C21orf33ENSG00000160221ENST00000291577p.A139Ac.417G>ASubstitution - coding silent
PDXKENSG00000160209ENST00000291565p.?c.623-8C>TUnknown
KANK2ENSG00000197256ENST00000355150p.?c.2412+7C>GUnknown
C19orf38ENSG00000214212ENST00000397820p.C88Cc.264C>TSubstitution - coding silent
ZNF397ENSG00000186812ENST00000330501p.G487Dc.1460G>ASubstitution - Missense
DSC2ENSG00000134755ENST00000280904p.K106Kc.318G>ASubstitution - coding silent
DSC2ENSG00000134755ENST00000251081p.K106Kc.318G>ASubstitution - coding silent
FASNENSG00000169710ENST00000306749p.D1990Dc.5970C>TSubstitution - coding silent
XM_043272.9p.A945Vc.2834C>TSubstitution - Missense
GIT1ENSG00000108262ENST00000225394p.T342Ic.1025C>TSubstitution - Missense
PHF12ENSG00000109118ENST00000332830p.P533Sc.1597C>TSubstitution - Missense
CCDC180ENSG00000197816ENST00000375202p.C401Yc.1202G>ASubstitution - Missense
ENST00000375206p.C540Yc.1619G>ASubstitution - Missense
DOCK5ENSG00000147459ENST00000276440p.P1852Ac.5554C>GSubstitution - Missense
ENTPD4ENSG00000197217ENST00000358689p.R584Wc.1750C>TSubstitution - Missense
CPA5ENSG00000158525ENST00000393213p.?c.636+4A>GUnknown
METTL2BENSG00000165055ENST00000262432p.Y182Cc.545A>GSubstitution - Missense
ZNF800ENSG00000048405ENST00000393313p.P2Ac.4C>GSubstitution - Missense
ZNF800ENSG00000048405ENST00000393312p.P2Ac.4C>GSubstitution - Missense
ASB15ENSG00000146809ENST00000451558p.?c.869+7G>AUnknown
IQUBENSG00000164675ENST00000324698p.E536Kc.1606G>ASubstitution - Missense
PHACTR3ENSG00000087495ENST00000371015p.R81Rc.243G>ASubstitution - coding silent
RAE1ENSG00000101146ENST00000395841p.T132Tc.396C>TSubstitution - coding silent
ENST00000253720p.A364Sc.1090G>TSubstitution - Missense
MYH14ENSG00000105357ENST00000262269p.?c.4137+4A>CUnknown
ENST00000301415p.?c.4014+4A>CUnknown
LMNB2ENSG00000176619ENST00000582871p.?c.625-6C>TUnknown
DOT1LENSG00000104885ENST00000398665p.T751Tc.2253C>TSubstitution - coding silent
ENST00000221482p.T751Tc.2253C>TSubstitution - coding silent
ENST00000221482p.P752Sc.2254C>TSubstitution - Missense
ITGB4ENSG00000132470ENST00000200181p.G1303Rc.3907G>ASubstitution - Missense
ITGB4ENSG00000132470ENST00000339591p.G1303Rc.3907G>ASubstitution - Missense
COL4A5ENSG00000188153ENST00000361603p.G1095Sc.3283G>ASubstitution - Missense
H2BFWTENSG00000123569ENST00000217926p.D79Nc.235G>ASubstitution - Missense
WNK2ENSG00000165238ENST00000297954p.T1041Pc.3121A>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S10908Lc.32723C>TSubstitution - Missense
ENST00000331986p.S6541Lc.19622C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.P13313Sc.39937C>TSubstitution - Missense
INSRENSG00000171105ENST00000302850p.P792Lc.2375C>TSubstitution - Missense
INSRENSG00000171105ENST00000302850p.P792Lc.2375C>TSubstitution - Missense
USP26ENSG00000134588ENST00000370832p.K574*c.1720A>TSubstitution - Nonsense
IGSF1ENSG00000147255ENST00000361420p.P144Lc.431C>TSubstitution - Missense
IGSF1ENSG00000147255ENST00000370901p.P144Lc.431C>TSubstitution - Missense
TLR7ENSG00000196664ENST00000380659p.G584Ec.1751G>ASubstitution - Missense
ERBB4ENSG00000178568ENST00000342788p.K734Ec.2200A>GSubstitution - Missense
NAB1ENSG00000138386ENST00000409581p.R386Sc.1158A>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.S6722Sc.20166T>CSubstitution - coding silent
ENST00000356127p.S6722Sc.20166T>CSubstitution - coding silent
MKKSENSG00000125863ENST00000399054p.C412Fc.1235G>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.G501Rc.1501G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.G501Rc.1501G>ASubstitution - Missense
COL1A1ENSG00000108821ENST00000225964p.F411Fc.1233C>TSubstitution - coding silent
USP10ENSG00000103194ENST00000219473p.N300Sc.899A>GSubstitution - Missense
PKD1L2ENSG00000166473ENST00000525539p.D1293Dc.3879C>TSubstitution - coding silent
NLRP9ENSG00000185792ENST00000332836p.G856Gc.2568G>ASubstitution - coding silent
FAM47CENSG00000198173ENST00000358047p.R751Rc.2253C>TSubstitution - coding silent
SPARCL1ENSG00000152583ENST00000282470p.K583Qc.1747A>CSubstitution - Missense
KLHL8ENSG00000145332ENST00000273963p.A550Tc.1648G>ASubstitution - Missense
HTRA3ENSG00000170801ENST00000307358p.D297Nc.889G>ASubstitution - Missense
LRCH3ENSG00000186001ENST00000334859p.T382Tc.1146C>TSubstitution - coding silent
LRCH3ENSG00000186001ENST00000438796p.T382Tc.1146C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.L1985Vc.5953C>GSubstitution - Missense
ENST00000405167p.L2226Hc.6677T>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P2258Lc.6773C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T2683Sc.8047A>TSubstitution - Missense
ENST00000405167p.T2683Sc.8047A>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S3511Fc.10532C>TSubstitution - Missense
ENST00000405167p.S3511Fc.10532C>TSubstitution - Missense
RFPL3ENSG00000128276ENST00000249007p.V184Vc.552G>ASubstitution - coding silent
INPP5JENSG00000185133ENST00000331075p.P312Sc.934C>TSubstitution - Missense
MTMR3ENSG00000100330ENST00000401950p.I1078Vc.3232A>GSubstitution - Missense
PCMTD2ENSG00000203880ENST00000308824p.V264Lc.790G>TSubstitution - Missense
MYT1ENSG00000196132ENST00000536311p.K517Qc.1549A>CSubstitution - Missense
ENSG00000267848ENST00000595604p.A56Vc.167C>TSubstitution - Missense
LILRB2ENSG00000131042ENST00000314446p.R95Qc.284G>ASubstitution - Missense
CHMP1AENSG00000131165ENST00000253475p.A214Sc.640G>TSubstitution - Missense
BANPENSG00000172530ENST00000355163p.I396Ic.1188C>TSubstitution - coding silent
BANPENSG00000172530ENST00000355022p.I390Ic.1170C>TSubstitution - coding silent
GLIS2ENSG00000126603ENST00000262366p.S115Lc.344C>TSubstitution - Missense
TRAP1ENSG00000126602ENST00000246957p.R491Wc.1471C>TSubstitution - Missense
ZNF597ENSG00000167981ENST00000301744p.I61Nc.182T>ASubstitution - Missense
RETNLBENSG00000163515ENST00000295755p.S84Lc.251C>TSubstitution - Missense
ABI3BPENSG00000154175ENST00000383691p.T463Tc.1389A>TSubstitution - coding silent
PLCL1ENSG00000115896ENST00000428675p.A479Vc.1436C>TSubstitution - Missense
NM_006226.1p.A381Vc.1142C>TSubstitution - Missense
DNAH7ENSG00000118997ENST00000312428p.M2080Ic.6240G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.R8749Wc.26245C>TSubstitution - Missense
ENST00000356127p.R8749Wc.26245C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.P9317Sc.27949C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.H12250Yc.36748C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.H5878Yc.17632C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.H5945Yc.17833C>TSubstitution - Missense
NM_003319p.H5753Yc.17257C>TSubstitution - Missense
ENST00000356127p.F14652Fc.43956C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.F8347Fc.25041C>TSubstitution - coding silent
NM_003319p.F8155Fc.24465C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.R18641Qc.55922G>ASubstitution - Missense
ENST00000356127p.R18639Qc.55916G>ASubstitution - Missense
NM_003319p.R12144Qc.36431G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.R14860Cc.44578C>TSubstitution - Missense
ENST00000356127p.R21230Cc.63688C>TSubstitution - Missense
NM_003319p.R14735Cc.44203C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.S18967Nc.56900G>ASubstitution - Missense
ENST00000356127p.S25337Nc.76010G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.S19034Nc.57101G>ASubstitution - Missense
NM_003319p.S18842Nc.56525G>ASubstitution - Missense
ENST00000400522_v68p.S275Fc.824C>TSubstitution - Missense
ENST00000391409p.R15Kc.44G>ASubstitution - Missense
ABHD12ENSG00000100997ENST00000339157p.A178Tc.532G>ASubstitution - Missense
CST1ENSG00000170373ENST00000398402p.S136Fc.407C>TSubstitution - Missense
EPS8L1ENSG00000131037ENST00000201647p.E671Ec.2013G>ASubstitution - coding silent
ANKRD30BENSG00000180777ENST00000358984p.K936Nc.2808A>TSubstitution - Missense
ENST00000400156_v68p.E219Kc.655G>ASubstitution - Missense
TONSLENSG00000160949ENST00000409379p.R579Cc.1735C>TSubstitution - Missense
PPP1R9AENSG00000158528ENST00000433360p.S1195fs*2c.3584delCDeletion - Frameshift
CDK14ENSG00000058091ENST00000265741p.G169Rc.505G>ASubstitution - Missense
ENSG00000257743ENST00000477922p.H467Yc.1399C>TSubstitution - Missense
ATP8A1ENSG00000124406ENST00000381668p.G573*c.1717G>TSubstitution - Nonsense
CLIP2ENSG00000106665ENST00000361545p.R22Wc.64C>TSubstitution - Missense
PMS2ENSG00000122512ENST00000265849p.H24Yc.70C>TSubstitution - Missense
RSPH10BENSG00000155026ENST00000337579p.N554Sc.1661A>GSubstitution - Missense
ACHEENSG00000087085ENST00000302913p.D36Hc.106G>CSubstitution - Missense
AGFG2ENSG00000106351ENST00000300176p.A264Ac.792C>TSubstitution - coding silent
UBR2ENSG00000024048ENST00000372899p.L749Lc.2247A>CSubstitution - coding silent
GRAMD4ENSG00000075240ENST00000361034p.S44Lc.131C>TSubstitution - Missense
NAGAENSG00000198951ENST00000396398p.W398delWc.1193_1195delGGTDeletion - In frame
ADCY5ENSG00000173175ENST00000462833p.V273Ac.818T>CSubstitution - Missense
ASPRV1ENSG00000244617ENST00000320256p.L50Pc.149T>CSubstitution - Missense
PLEKENSG00000115956ENST00000234313p.G32Ec.95G>ASubstitution - Missense
FAM161AENSG00000170264ENST00000404929p.D479Gc.1436A>GSubstitution - Missense
SH3BP4ENSG00000130147ENST00000344528p.R280Qc.839G>ASubstitution - Missense
USP40ENSG00000085982ENST00000450966p.?c.2684-8C>AUnknown
HTR2BENSG00000135914ENST00000258400p.R409Rc.1227A>GSubstitution - coding silent
SPHKAPENSG00000153820ENST00000392056p.I450Ic.1350C>TSubstitution - coding silent
XM_051221.5p.I450Ic.1350C>TSubstitution - coding silent
NYAP2ENSG00000144460ENST00000272907p.M248Ic.744G>ASubstitution - Missense
NM_005689.1p.F565Sc.1694T>CSubstitution - Missense
WNT6ENSG00000115596ENST00000233948p.R50Rc.148C>ASubstitution - coding silent
PTPN4ENSG00000088179ENST00000263708p.N514Tc.1541A>CSubstitution - Missense
MAGEB2ENSG00000099399ENST00000378988p.P54Lc.161C>TSubstitution - Missense
MAGEB2ENSG00000099399ENST00000378988p.P54Lc.161C>TSubstitution - Missense
MAGEB18ENSG00000176774ENST00000325250p.E98Kc.292G>ASubstitution - Missense
ZFXENSG00000005889ENST00000379188p.E179delEc.531_533delAGADeletion - In frame
SU_SK681p.I837Ic.2511C>TSubstitution - coding silent
NM_001001671.1p.I265Ic.795C>TSubstitution - coding silent
REPS2ENSG00000169891ENST00000357277p.E220Kc.658G>ASubstitution - Missense
NM_004726.1p.E81Kc.241G>ASubstitution - Missense
PIRENSG00000087842ENST00000380420p.V64Ac.191T>CSubstitution - Missense
ADAM22ENSG00000008277ENST00000265727p.?c.1486-2A>GUnknown
PCLOENSG00000186472ENST00000333891p.R1761Kc.5282G>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.R1692Kc.5075G>ASubstitution - Missense
MAGI2ENSG00000187391ENST00000354212p.S769Sc.2307C>TSubstitution - coding silent
LPAENSG00000198670ENST00000316300p.D1566Yc.4696G>TSubstitution - Missense
UTRNENSG00000152818ENST00000367545p.P2179Lc.6536C>TSubstitution - Missense
NM_020340.2p.D1864Nc.5590G>ASubstitution - Missense
SLC35D3ENSG00000182747ENST00000331858p.P367Pc.1101C>TSubstitution - coding silent
BTNL3ENSG00000168903ENST00000342868p.V303Dc.908T>ASubstitution - Missense
ADAD1ENSG00000164113ENST00000296513p.N256Sc.767A>GSubstitution - Missense
KIAA1109ENSG00000138688ENST00000264501p.M1573Ic.4719G>ASubstitution - Missense
KIAA1109ENSG00000138688ENST00000264501p.?c.5313-10T>CUnknown
ELOVL6ENSG00000170522ENST00000394607p.I203Ic.609C>TSubstitution - coding silent
HACL1ENSG00000131373ENST00000321169p.M57Rc.170T>GSubstitution - Missense
ENST00000305265p.R325Qc.974G>ASubstitution - Missense
CDH3ENSG00000062038ENST00000429102p.K132Kc.396G>ASubstitution - coding silent
CMTM2ENSG00000140932ENST00000268595p.R69Cc.205C>TSubstitution - Missense
CAPN15ENSG00000103326ENST00000219611p.F488Fc.1464C>TSubstitution - coding silent
GPR114ENSG00000159618ENST00000340339p.G203Cc.607G>TSubstitution - Missense
MAN2A1ENSG00000112893ENST00000261483p.F534Fc.1602C>TSubstitution - coding silent
ACVR2BENSG00000114739ENST00000352511p.S490Sc.1470G>ASubstitution - coding silent
DLEC1ENSG00000008226ENST00000308059p.E1163Kc.3487G>ASubstitution - Missense
PLCD1ENSG00000187091ENST00000463876p.A42Vc.125C>TSubstitution - Missense
PLCD1ENSG00000187091ENST00000334661p.A21Vc.62C>TSubstitution - Missense
RGPD4ENSG00000196862ENST00000408999p.R1699Kc.5096G>ASubstitution - Missense
IL1RL2ENSG00000115598ENST00000441515p.R250Qc.749G>ASubstitution - Missense
KLF11ENSG00000172059ENST00000305883p.P368Sc.1102C>TSubstitution - Missense
SPEM1ENSG00000181323ENST00000323675p.S292Gc.874A>GSubstitution - Missense
C17orf77ENSG00000182352ENST00000392620p.A19Vc.56C>TSubstitution - Missense
GPR142ENSG00000257008ENST00000335666p.A244Tc.730G>ASubstitution - Missense
ENST00000316893p.S1183Sc.3549C>TSubstitution - coding silent
ENSG00000176593ENST00000313957p.A20Pc.58G>CSubstitution - Missense
ENSG00000176593ENST00000313957p.A20Pc.58G>CSubstitution - Missense
FUT6ENSG00000156413ENST00000286955p.R303Rc.909G>ASubstitution - coding silent
SAGE1ENSG00000181433ENST00000324447p.Y481*c.1443T>GSubstitution - Nonsense
AOAHENSG00000136250ENST00000258749p.W544*c.1632G>ASubstitution - Nonsense
PDE1CENSG00000154678ENST00000396184p.T70Tc.210A>CSubstitution - coding silent
PPP1R17ENSG00000106341ENST00000342032p.I101Tc.302T>CSubstitution - Missense
CEACAM4ENSG00000105352ENST00000221954p.N57Hc.169A>CSubstitution - Missense
MAP2K2ENSG00000126934ENST00000262948p.P269Pc.807G>ASubstitution - coding silent
SPATA31D1ENSG00000214929ENST00000344803p.S366Fc.1097C>TSubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.S366Fc.1097C>TSubstitution - Missense
PCDHGA10ENSG00000253846ENST00000398610p.I562Fc.1684A>TSubstitution - Missense
LAMP3ENSG00000078081ENST00000265598p.N232Nc.696C>TSubstitution - coding silent
NLRP1ENSG00000091592ENST00000262467p.P450Pc.1350C>ASubstitution - coding silent
NLRP1ENSG00000091592ENST00000262467p.P450Lc.1349C>TSubstitution - Missense
NLRP1ENSG00000091592ENST00000262467p.L449Pc.1346T>CSubstitution - Missense
VPS53ENSG00000141252ENST00000437048p.V323Ac.968T>CSubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.?c.354+10_586+754del1567Unknown
TMEM106AENSG00000184988ENST00000331615p.?c.614+8C>TUnknown
TMEM106AENSG00000184988ENST00000331615p.?c.614+9C>TUnknown
FAM110CENSG00000184731ENST00000327669p.G157Dc.470G>ASubstitution - Missense
NF1ENSG00000196712ENST00000358273p.S2585Fc.7754C>TSubstitution - Missense
TEFMENSG00000172171ENST00000581216p.I99Ic.297C>TSubstitution - coding silent
FILIP1ENSG00000118407ENST00000237172p.E831Kc.2491G>ASubstitution - Missense
OR2A4ENSG00000180658ENST00000315453p.S52Fc.155C>TSubstitution - Missense
KIAA0408ENSG00000189367ENST00000483725p.E183Gc.548A>GSubstitution - Missense
SNTB1ENSG00000172164ENST00000395601p.S219Yc.656C>ASubstitution - Missense
RIMS1ENSG00000079841ENST00000521978p.R1249*c.3745C>TSubstitution - Nonsense
KHDRBS2ENSG00000112232ENST00000281156p.G277Rc.829G>ASubstitution - Missense
BMP5ENSG00000112175ENST00000370830p.D169Nc.505G>ASubstitution - Missense
DCBLD1ENSG00000164465ENST00000296955p.A404Vc.1211C>TSubstitution - Missense
DCBLD1ENSG00000164465ENST00000338728p.A404Vc.1211C>TSubstitution - Missense
NEDD9ENSG00000111859ENST00000379446p.P289Lc.866C>TSubstitution - Missense
PRDM1ENSG00000057657ENST00000369096p.G419Dc.1256G>ASubstitution - Missense
CBY1ENSG00000100211ENST00000216029p.R78Rc.234C>ASubstitution - coding silent
CBY1ENSG00000100211ENST00000216029p.R92Qc.275G>ASubstitution - Missense
COL5A3ENSG00000080573ENST00000264828p.P943Sc.2827C>TSubstitution - Missense
ADNP2ENSG00000101544ENST00000262198p.V378Vc.1134C>TSubstitution - coding silent
XRCC4ENSG00000152422ENST00000282268p.N141Sc.422A>GSubstitution - Missense
C5orf20ENSG00000251380ENST00000503143p.S96Fc.287C>TSubstitution - Missense
NM_133482.1p.L724Lc.2172A>GSubstitution - coding silent
TNIP2ENSG00000168884ENST00000315423p.Q89Ec.265C>GSubstitution - Missense
ENST00000324309p.L61Pc.182T>CSubstitution - Missense
DCHS2ENSG00000197410ENST00000357232p.D1813Nc.5437G>ASubstitution - Missense
XRN1ENSG00000114127ENST00000264951p.L1583Lc.4749A>GSubstitution - coding silent
ZBTB38ENSG00000177311ENST00000514251p.T653Ic.1958C>TSubstitution - Missense
SRPRBENSG00000144867ENST00000466490p.V9Vc.27G>ASubstitution - coding silent
TOPBP1ENSG00000163781ENST00000260810p.P299Rc.896C>GSubstitution - Missense
NM_007027.2p.P212Rc.635C>GSubstitution - Missense
ENST00000341648p.K59Rc.176A>GSubstitution - Missense
HS6ST1ENSG00000136720ENST00000259241p.S280Sc.840C>TSubstitution - coding silent
QPCTLENSG00000011478ENST00000012049p.F315Fc.945C>TSubstitution - coding silent
RTN2ENSG00000125744ENST00000245923p.T21Nc.62C>ASubstitution - Missense
ENST00000396750p.V102Ic.304G>ASubstitution - Missense
ENST00000396750_v65p.V102Ic.304G>ASubstitution - Missense
ENST00000397190p.T32Ic.95C>TSubstitution - Missense
GATAD2AENSG00000167491ENST00000360315p.P627Lc.1880C>TSubstitution - Missense
GATAD2AENSG00000167491ENST00000360315p.P484Lc.1451C>TSubstitution - Missense
GATAD2AENSG00000167491ENST00000360315p.P627Pc.1881C>TSubstitution - coding silent
KIAA1683ENSG00000130518ENST00000392413p.R283Cc.847C>TSubstitution - Missense
ENST00000359737p.R283Cc.847C>TSubstitution - Missense
FCHO1ENSG00000130475ENST00000252771p.Y102Yc.306C>TSubstitution - coding silent
SATL1ENSG00000184788ENST00000395409p.G290Gc.870C>ASubstitution - coding silent
ATP7AENSG00000165240ENST00000341514p.C903Cc.2709C>TSubstitution - coding silent
MAGEE1ENSG00000198934ENST00000361470p.P321Rc.962C>GSubstitution - Missense
KIF4AENSG00000090889ENST00000374403p.R702Lc.2105G>TSubstitution - Missense
ZXDBENSG00000198455ENST00000374888p.D735Gc.2204A>GSubstitution - Missense
GPR116ENSG00000069122ENST00000265417p.P679Lc.2036C>TSubstitution - Missense
MEP1AENSG00000112818ENST00000230588p.N370Sc.1109A>GSubstitution - Missense
MRPS18AENSG00000096080ENST00000372133p.T41Tc.123C>TSubstitution - coding silent
ITPR3ENSG00000096433ENST00000374316p.D1810Ac.5429A>CSubstitution - Missense
TNXBENSG00000168477ENST00000375247p.V2692Lc.8074G>CSubstitution - Missense
TNXBENSG00000168477ENST00000375244p.V2605Lc.7813G>CSubstitution - Missense
PDE4DENSG00000113448ENST00000340635p.I712Ic.2136C>TSubstitution - coding silent
PDE4DENSG00000113448ENST00000502484p.I651Ic.1953C>TSubstitution - coding silent
PDE4DENSG00000113448ENST00000507116p.I648Ic.1944C>TSubstitution - coding silent
PDE4DENSG00000113448ENST00000360047p.I576Ic.1728C>TSubstitution - coding silent
PDE4DENSG00000113448ENST00000360047p.I576Ic.1728C>TSubstitution - coding silent
ZNF354AENSG00000169131ENST00000335815p.S103Lc.308C>TSubstitution - Missense
NHP2ENSG00000145912ENST00000274606p.K46Nc.138G>CSubstitution - Missense
FAM196BENSG00000204767ENST00000377365p.A321Vc.962C>TSubstitution - Missense
LCORLENSG00000178177ENST00000382226p.G52Gc.156T>GSubstitution - coding silent
WDR34ENSG00000119333ENST00000451652p.P257Pc.771C>GSubstitution - coding silent
OR1L8ENSG00000171496ENST00000304865p.G17Rc.49G>ASubstitution - Missense
TNCENSG00000041982ENST00000350763p.K1063Rc.3188A>GSubstitution - Missense
ZNF618ENSG00000157657ENST00000288466p.G361Vc.1082G>TSubstitution - Missense
DENND3ENSG00000105339ENST00000262585p.L870Fc.2608C>TSubstitution - Missense
EFR3AENSG00000132294ENST00000254624p.P308Lc.923C>TSubstitution - Missense
SCN2AENSG00000136531ENST00000375427p.F1764Fc.5292C>TSubstitution - coding silent
SCN2AENSG00000136531ENST00000375437p.F1764Fc.5292C>TSubstitution - coding silent
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
INTS1ENSG00000164880ENST00000389470p.A450Sc.1348G>TSubstitution - Missense
KIAA0232ENSG00000170871ENST00000307659p.F993Fc.2979C>TSubstitution - coding silent
PDE6BENSG00000133256ENST00000255622p.G474Gc.1422G>ASubstitution - coding silent
LPHN3ENSG00000150471ENST00000514591p.E1313Gc.3938A>GSubstitution - Missense
SPATA18ENSG00000163071ENST00000295213p.S309Fc.926C>TSubstitution - Missense
ITGB6ENSG00000115221ENST00000283249p.P703Sc.2107C>TSubstitution - Missense
BAZ2BENSG00000123636ENST00000392783p.N2000Nc.6000T>CSubstitution - coding silent
CACNB4ENSG00000182389ENST00000534999p.?c.767-8C>TUnknown
NEBENSG00000183091ENST00000397345p.T6949Tc.20847G>ASubstitution - coding silent
JPH2ENSG00000149596ENST00000372980p.?c.2010+2T>GUnknown
L3MBTL1ENSG00000185513ENST00000427442p.R335Cc.1003C>TSubstitution - Missense
CHD6ENSG00000124177ENST00000373222p.P259Lc.776C>TSubstitution - Missense
EMILIN3ENSG00000183798ENST00000332312p.L658Lc.1974G>ASubstitution - coding silent
PLIN4ENSG00000167676ENST00000301286p.G472Dc.1415G>ASubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.G400Dc.1199G>ASubstitution - Missense
ATP1A3ENSG00000105409ENST00000302102p.N491Sc.1472A>GSubstitution - Missense
ANO8ENSG00000074855ENST00000159087p.G796Sc.2386G>ASubstitution - Missense
OR10H4ENSG00000176231ENST00000322107p.I175Tc.524T>CSubstitution - Missense
CYP4F8ENSG00000186526ENST00000325723p.L261Lc.781C>TSubstitution - coding silent
PMFBP1ENSG00000118557ENST00000237353p.R909*c.2725C>TSubstitution - Nonsense
FUKENSG00000157353ENST00000378912p.T42Mc.125C>TSubstitution - Missense
ZKSCAN1ENSG00000106261ENST00000324306p.?c.673-6T>CUnknown
ABCA13ENSG00000179869ENST00000435803p.E3916Kc.11746G>ASubstitution - Missense
ENST00000319379p.E3861Kc.11581G>ASubstitution - Missense
HUS1ENSG00000136273ENST00000436444p.F263Fc.789T>CSubstitution - coding silent
MYO1GENSG00000136286ENST00000258787p.?c.1503+5C>TUnknown
CUL1ENSG00000055130ENST00000409469p.P69Sc.205C>TSubstitution - Missense
NOBOXENSG00000106410ENST00000467773p.?c.1155-4C>TUnknown
NOBOXENSG00000106410ENST00000223140p.?c.1059-4C>TUnknown
CLCN1ENSG00000188037ENST00000343257p.H773Yc.2317C>TSubstitution - Missense
ENST00000539307p.A33Sc.97G>TSubstitution - Missense
OR2J2ENSG00000204700ENST00000377167p.S285Ic.854G>TSubstitution - Missense
HIST1H2BLENSG00000185130ENST00000377401p.R34Rc.102C>TSubstitution - coding silent
FAT2ENSG00000086570ENST00000261800p.R1655Rc.4965G>ASubstitution - coding silent
PCDHB6ENSG00000113211ENST00000231136p.E309Kc.925G>ASubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.G2645Gc.7935C>TSubstitution - coding silent
MTMR1ENSG00000063601ENST00000370390p.R461Rc.1383G>ASubstitution - coding silent
MTMR1ENSG00000063601ENST00000451863p.R461Rc.1383G>ASubstitution - coding silent
AFF2ENSG00000155966ENST00000286437p.Y829Sc.2486A>CSubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.Y1188Sc.3563A>CSubstitution - Missense
FAM161AENSG00000170264ENST00000307507p.D370Gc.1109A>GSubstitution - Missense
TSC22D2ENSG00000196428ENST00000361875p.L712Lc.2134T>CSubstitution - coding silent
ZNF550ENSG00000251369ENST00000506609p.T213Ic.638C>TSubstitution - Missense
PRR14LENSG00000183530ENST00000397493p.P2109Lc.6326C>TSubstitution - Missense
HECW2ENSG00000138411ENST00000260983p.R182Qc.545G>ASubstitution - Missense
MATN3ENSG00000132031ENST00000407540p.N365fs*16c.1094_1097delATGADeletion - Frameshift
TTNENSG00000155657ENST00000342992p.S25339Nc.76016G>ASubstitution - Missense
DEFB116ENSG00000215545ENST00000400549p.Y99Yc.297C>TSubstitution - coding silent
TONSLENSG00000160949ENST00000409379p.Q217Hc.651G>CSubstitution - Missense
RUFY3ENSG00000018189ENST00000381006p.?c.1651-5T>CUnknown
NM_003319p.P3686Sc.11056C>TSubstitution - Missense
EFCAB1ENSG00000034239ENST00000262103p.G118Ec.353G>ASubstitution - Missense
NOL9ENSG00000162408ENST00000377705p.P629Lc.1886C>TSubstitution - Missense
SPACA7ENSG00000153498ENST00000283550p.P128Tc.382C>ASubstitution - Missense
TYRO3ENSG00000092445ENST00000263798p.P145Sc.433C>TSubstitution - Missense
NM_006293p.P137Sc.409C>TSubstitution - Missense
FBN1ENSG00000166147ENST00000316623p.G1762Gc.5286T>CSubstitution - coding silent
NAV1ENSG00000134369ENST00000367296p.G1561Sc.4681G>ASubstitution - Missense
FAM63AENSG00000143409ENST00000361936p.R436Wc.1306C>TSubstitution - Missense
MTUS2ENSG00000132938ENST00000431530p.P842Pc.2526G>ASubstitution - coding silent
TENM4ENSG00000149256ENST00000278550p.K2210Kc.6630G>ASubstitution - coding silent
TRAF5ENSG00000082512ENST00000336184p.K500Tc.1499A>CSubstitution - Missense
GABBR2ENSG00000136928ENST00000259455p.F319Fc.957C>TSubstitution - coding silent
ENST00000570743p.S983Sc.2949C>TSubstitution - coding silent
MYH13ENSG00000006788ENST00000252172p.S983Sc.2949C>TSubstitution - coding silent
KRTAP10-2ENSG00000205445ENST00000391621p.P87Lc.260C>TSubstitution - Missense
SYTL4ENSG00000102362ENST00000372981p.S155Fc.464C>TSubstitution - Missense
AP1S2ENSG00000182287ENST00000545766p.?c.127-8C>TUnknown
XM_372262.3p.V162Ac.485T>CSubstitution - Missense
SAGE1ENSG00000181433ENST00000535938p.Y481*c.1443T>GSubstitution - Nonsense
WNK2ENSG00000165238ENST00000395477p.T1041Pc.3121A>CSubstitution - Missense
WNK2ENSG00000165238ENST00000427277p.T653Pc.1957A>CSubstitution - Missense
CACNA1BENSG00000148408ENST00000277549p.G936Rc.2806G>ASubstitution - Missense
CCDC180ENSG00000197816ENST00000411667p.C398Yc.1193G>ASubstitution - Missense
DBNLENSG00000136279ENST00000468694p.L108Lc.324G>ASubstitution - coding silent
CACNA1EENSG00000198216ENST00000357570p.S1857Fc.5570C>TSubstitution - Missense
KIAA1109ENSG00000138688ENST00000455637p.?c.5313-10T>CUnknown
ENST00000339254p.?c.872-8C>TUnknown
RGPD4ENSG00000196862ENST00000354986p.R1699Kc.5096G>ASubstitution - Missense
MYT1ENSG00000196132ENST00000360149p.K219Qc.655A>CSubstitution - Missense
ENST00000266078p.V40Lc.118G>TSubstitution - Missense
ABHD12ENSG00000100997ENST00000450393p.A133Tc.397G>ASubstitution - Missense
FUT6ENSG00000156413ENST00000592563p.R303Rc.909G>ASubstitution - coding silent
MYH14ENSG00000105357ENST00000440075p.?c.4137+4A>CUnknown
GATAD2AENSG00000167491ENST00000404158p.P628Lc.1883C>TSubstitution - Missense
GATAD2AENSG00000167491ENST00000404158p.P628Pc.1884C>TSubstitution - coding silent
RGL3ENSG00000205517ENST00000393423p.P555Hc.1664C>ASubstitution - Missense
KANK2ENSG00000197256ENST00000432929p.?c.2436+7C>GUnknown
ENTHD2ENSG00000167302ENST00000374769p.G102Ec.305G>ASubstitution - Missense
SDK2ENSG00000069188ENST00000392650p.S1183Sc.3549C>TSubstitution - coding silent
NF1ENSG00000196712ENST00000444181p.S378Fc.1133C>TSubstitution - Missense
PMFBP1ENSG00000118557ENST00000537465p.L913Lc.2739C>TSubstitution - coding silent
ABCC1ENSG00000103222ENST00000399408p.P448Sc.1342C>TSubstitution - Missense
RAP1GAPENSG00000076864ENST00000542643p.F519Fc.1557C>TSubstitution - coding silent
TAF1AENSG00000143498ENST00000543857p.Q62Rc.185A>GSubstitution - Missense
CACNA1EENSG00000198216ENST00000367567p.S1513Fc.4538C>TSubstitution - Missense
ASTN1ENSG00000152092ENST00000367654p.R331Rc.993G>ASubstitution - coding silent
MPHOSPH9ENSG00000051825ENST00000302349p.I429Sc.1286T>GSubstitution - Missense
RTN4RL2ENSG00000186907ENST00000335099p.P29Sc.85C>TSubstitution - Missense
OR51V1ENSG00000176742ENST00000321255p.Q307Qc.921G>ASubstitution - coding silent
TRIM49BENSG00000182053ENST00000332682p.R204Qc.611G>ASubstitution - Missense
SLC39A13ENSG00000165915ENST00000362021p.A253Tc.757G>ASubstitution - Missense
NLRP9ENSG00000185792ENST00000590200p.G856Gc.2568G>ASubstitution - coding silent
PMFBP1ENSG00000118557ENST00000355636p.R764*c.2290C>TSubstitution - Nonsense
FAM47CENSG00000198173ENST00000358047p.R751Rc.2253C>TSubstitution - coding silent
ENST00000405167p.L1985Vc.5953C>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.L2226Hc.6677T>ASubstitution - Missense
NDUFA3ENSG00000170906ENST00000391764p.A55Ac.165G>CSubstitution - coding silent
DPYSL5ENSG00000157851ENST00000288699p.G215Rc.643G>ASubstitution - Missense
ENST00000356127p.H12250Yc.36748C>TSubstitution - Missense
ABHD12ENSG00000100997ENST00000376542p.A178Tc.532G>ASubstitution - Missense
TTLL2ENSG00000120440ENST00000239587p.G221Gc.663G>ASubstitution - coding silent
PDE9AENSG00000160191ENST00000291539p.S578Fc.1733C>TSubstitution - Missense
ST3GAL5ENSG00000115525ENST00000377332p.S268Tc.803G>CSubstitution - Missense
ADAM7ENSG00000069206ENST00000175238p.P349Sc.1045C>TSubstitution - Missense
ALDH1B1ENSG00000137124ENST00000377698p.D363Nc.1087G>ASubstitution - Missense
GUCY2FENSG00000101890ENST00000218006p.Q1102Qc.3306G>ASubstitution - coding silent
RP1ENSG00000104237ENST00000220676p.E1055Kc.3163G>ASubstitution - Missense
ERBB4ENSG00000178568ENST00000402597p.K724Ec.2170A>GSubstitution - Missense
WDR63ENSG00000162643ENST00000294664p.L380Fc.1138C>TSubstitution - Missense
FKBP4ENSG00000004478ENST00000001008p.L410Lc.1230C>GSubstitution - coding silent
FMO1ENSG00000010932ENST00000354841p.E308Kc.922G>ASubstitution - Missense
ENST00000333815p.?c.2963-6C>TUnknown
SRP9ENSG00000143742ENST00000304786p.Y51Nc.151T>ASubstitution - Missense
NUAK1ENSG00000074590ENST00000261402p.S367Lc.1100C>TSubstitution - Missense
BRF1ENSG00000185024ENST00000546474p.E562Kc.1684G>ASubstitution - Missense
IQCHENSG00000103599ENST00000360277p.K168Kc.504G>ASubstitution - coding silent
ZNF618ENSG00000157657ENST00000288466p.G361Vc.1082G>TSubstitution - Missense
TGENSG00000042832ENST00000220616p.?c.479-4T>AUnknown
ENST00000373135_v70p.R267Cc.799C>TSubstitution - Missense
L3MBTL1ENSG00000185513ENST00000373134p.R267Cc.799C>TSubstitution - Missense
PDE1CENSG00000154678ENST00000396191p.T70Tc.210A>CSubstitution - coding silent
CLTCENSG00000141367ENST00000269122p.T118Tc.354G>ASubstitution - coding silent
ACSL1ENSG00000151726ENST00000281455p.R112Wc.334C>TSubstitution - Missense
NEDD9ENSG00000111859ENST00000379446p.P289Lc.866C>TSubstitution - Missense
PCDH19ENSG00000165194ENST00000373034p.L337Lc.1011G>ASubstitution - coding silent
UGT1A9ENSG00000241119ENST00000354728p.V258Ac.773T>CSubstitution - Missense
ADAM22ENSG00000008277ENST00000265727p.?c.1486-2A>GUnknown
TTNENSG00000155657ENST00000342992p.K10203Kc.30609G>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.R12269Qc.36806G>ASubstitution - Missense
ENSG00000269630ENST00000593319p.G41Gc.123G>CSubstitution - coding silent
SULT1B1ENSG00000173597ENST00000310613p.W28*c.84G>ASubstitution - Nonsense
EIF2AK3ENSG00000172071ENST00000303236p.L684Lc.2052C>TSubstitution - coding silent
ENST00000269205_v65p.S9Gc.25A>GSubstitution - Missense
LGALS9BENSG00000170298ENST00000324290p.F93Fc.279C>TSubstitution - coding silent
CPA2ENSG00000158516ENST00000222481p.R415Qc.1244G>ASubstitution - Missense
STX16ENSG00000124222ENST00000361830p.R14Rc.42G>ASubstitution - coding silent
PKD1L2ENSG00000166473ENST00000337114p.V523Ac.1568T>CSubstitution - Missense
TNFRSF9ENSG00000049249ENST00000377507p.L16Lc.48C>TSubstitution - coding silent
KCNH5ENSG00000140015ENST00000322893p.R802Gc.2404A>GSubstitution - Missense
NID2ENSG00000087303ENST00000216286p.E624Kc.1870G>ASubstitution - Missense
SLCO3A1ENSG00000176463ENST00000318445p.L579Fc.1735C>TSubstitution - Missense
SZT2ENSG00000198198ENST00000562955p.D1813Nc.5437G>ASubstitution - Missense
ADAM30ENSG00000134249ENST00000369400p.C172Fc.515G>TSubstitution - Missense
PITPNM1ENSG00000110697ENST00000534749p.H163Hc.489C>TSubstitution - coding silent
OBSCNENSG00000154358ENST00000284548p.Y2225Hc.6673T>CSubstitution - Missense
GRM8ENSG00000179603ENST00000405249p.G149Gc.447C>TSubstitution - coding silent
KCNJ15ENSG00000157551ENST00000398930p.V29Ic.85G>ASubstitution - Missense
KIAA1109ENSG00000138688ENST00000455637p.M1573Ic.4719G>ASubstitution - Missense
TAF1AENSG00000143498ENST00000543857p.A212Vc.635C>TSubstitution - Missense
PLEKHG5ENSG00000171680ENST00000535355p.R969Hc.2906G>ASubstitution - Missense
ENST00000251268_v61p.G2749Vc.8246G>TSubstitution - Missense
DBNLENSG00000136279ENST00000494774p.L108Lc.324G>ASubstitution - coding silent
PDE1CENSG00000154678ENST00000396193p.T130Tc.390A>CSubstitution - coding silent
CYP2A6ENSG00000255974ENST00000301141p.T216Tc.648G>CSubstitution - coding silent
GKAP1ENSG00000165113ENST00000376371p.L322Lc.966C>TSubstitution - coding silent
INCA1ENSG00000196388ENST00000355025p.E153Kc.457G>ASubstitution - Missense
ZNF445ENSG00000185219ENST00000396077p.Q809*c.2425C>TSubstitution - Nonsense
TTC7AENSG00000068724ENST00000319190p.S796Sc.2388C>TSubstitution - coding silent
CACNA1GENSG00000006283ENST00000354983p.?c.354+10_586+754del1567Unknown
NLRP1ENSG00000091592ENST00000572272p.P450Lc.1349C>TSubstitution - Missense
DSTENSG00000151914ENST00000370769p.R3066Hc.9197G>ASubstitution - Missense
DLEC1ENSG00000008226ENST00000346219p.E1163Kc.3487G>ASubstitution - Missense
MCM3APENSG00000160294ENST00000397708p.L385Lc.1155G>ASubstitution - coding silent
ZBTB7CENSG00000184828ENST00000332053p.E44*c.130G>TSubstitution - Nonsense
ENST00000292520p.Q58Hc.174G>CSubstitution - Missense
IQCHENSG00000103599ENST00000335894p.K416Kc.1248G>ASubstitution - coding silent
VWA9ENSG00000138614ENST00000395644p.Y46Yc.138C>TSubstitution - coding silent
FAM227BENSG00000166262ENST00000299338p.E423Kc.1267G>ASubstitution - Missense
ENST00000369728p.R448Qc.1343G>ASubstitution - Missense
TTLL13ENSG00000213471ENST00000339615p.N327Dc.979A>GSubstitution - Missense
ZNF697ENSG00000143067ENST00000421812p.R281Rc.843C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.S5208Sc.15624C>TSubstitution - coding silent
THBS2ENSG00000186340ENST00000366787p.V782Mc.2344G>ASubstitution - Missense
ADAM7ENSG00000069206ENST00000175238p.R691Hc.2072G>ASubstitution - Missense
UBR2ENSG00000024048ENST00000372883p.L253Lc.759A>CSubstitution - coding silent
PDE4DENSG00000113448ENST00000317118p.I421Ic.1263C>TSubstitution - coding silent
CLCA4ENSG00000016602ENST00000263723p.L189Lc.567T>CSubstitution - coding silent
ANXA10ENSG00000109511ENST00000359299p.?c.310-6C>TUnknown
PDE4DENSG00000113448ENST00000503258p.I582Ic.1746C>TSubstitution - coding silent
C16orf59ENSG00000162062ENST00000361837p.C343Yc.1028G>ASubstitution - Missense
TMEM145ENSG00000167619ENST00000301204p.A299Ac.897G>ASubstitution - coding silent
AFF2ENSG00000155966ENST00000370460p.Y1188Sc.3563A>CSubstitution - Missense
NLRP1ENSG00000091592ENST00000572272p.P450Pc.1350C>ASubstitution - coding silent
SYTL4ENSG00000102362ENST00000372989p.S155Fc.464C>TSubstitution - Missense
CACNA1BENSG00000148408ENST00000371372p.G1742Rc.5224G>ASubstitution - Missense
SATL1ENSG00000184788ENST00000509231p.G477Gc.1431C>ASubstitution - coding silent
CCDC37ENSG00000163885ENST00000352312p.?c.226-5C>TUnknown
PPEF1ENSG00000086717ENST00000361511p.K148Kc.444A>GSubstitution - coding silent
LRCH3ENSG00000186001ENST00000425562p.T382Tc.1146C>TSubstitution - coding silent
ABATENSG00000183044ENST00000396600p.E78Kc.232G>ASubstitution - Missense
EFCAB8ENSG00000215529ENST00000400522p.S275Fc.824C>TSubstitution - Missense
DNAAF3ENSG00000167646ENST00000455045p.I18Sc.53T>GSubstitution - Missense
XKR9ENSG00000221947ENST00000408926p.M259Ic.777G>ASubstitution - Missense
ENTHD2ENSG00000167302ENST00000300714p.G186Ec.557G>ASubstitution - Missense
PAFAH1B1ENSG00000007168ENST00000397195p.S167Sc.501C>TSubstitution - coding silent
IGF2BP1ENSG00000159217ENST00000290341p.?c.1201-7C>TUnknown
SLC26A9ENSG00000174502ENST00000367135p.L62Lc.186C>TSubstitution - coding silent
KIF26AENSG00000066735ENST00000423312p.S1108Sc.3324C>TSubstitution - coding silent
ENST00000402751p.M219Rc.656T>GSubstitution - Missense
KRT73ENSG00000186049ENST00000305748p.E439Kc.1315G>ASubstitution - Missense
CCR5ENSG00000160791ENST00000343801p.F193Fc.579C>TSubstitution - coding silent
SPATA19ENSG00000166118ENST00000299140p.R139*c.415C>TSubstitution - Nonsense
MAP3K15ENSG00000180815ENST00000338883p.I790Ic.2370C>TSubstitution - coding silent
PMFBP1ENSG00000118557ENST00000355636p.L763Lc.2289C>TSubstitution - coding silent
SHC2ENSG00000129946ENST00000264554p.A379Ac.1137C>GSubstitution - coding silent
ABCB6ENSG00000115657ENST00000265316p.F565Sc.1694T>CSubstitution - Missense
PLEKHG5ENSG00000171680ENST00000537245p.R979Hc.2936G>ASubstitution - Missense
CRB2ENSG00000148204ENST00000373631p.T51Tc.153C>TSubstitution - coding silent
PHOSPHO2ENSG00000144362ENST00000359744p.F104Fc.312C>TSubstitution - coding silent
LPHN1ENSG00000072071ENST00000340736p.S808Lc.2423C>TSubstitution - Missense
KIAA0232ENSG00000170871ENST00000307659p.L1176Fc.3526C>TSubstitution - Missense
ADRA1BENSG00000170214ENST00000306675p.P201Sc.601C>TSubstitution - Missense
ZNF571ENSG00000180479ENST00000328550p.T323Kc.968C>ASubstitution - Missense
NLRP1ENSG00000091592ENST00000572272p.L449Pc.1346T>CSubstitution - Missense
RAD50ENSG00000113522ENST00000265335p.L863Lc.2589A>GSubstitution - coding silent
GPR98ENSG00000164199ENST00000405460p.H4159Pc.12476A>CSubstitution - Missense
USP40ENSG00000085982ENST00000450966p.?c.2684-8C>AUnknown
ENST00000291567p.?c.771-9C>TUnknown
ZNF879ENSG00000234284ENST00000444149p.L53Vc.157C>GSubstitution - Missense
TET3ENSG00000187605ENST00000409262p.P619Sc.1855C>TSubstitution - Missense
DNAH6ENSG00000115423ENST00000237449p.?c.2868+9G>TUnknown
CCDC149ENSG00000181982ENST00000504487p.L116Pc.347T>CSubstitution - Missense
SSTR3ENSG00000183473ENST00000328544p.S36Rc.106A>CSubstitution - Missense
ZUFSPENSG00000153975ENST00000368576p.F221Lc.661T>CSubstitution - Missense
FAM166AENSG00000188163ENST00000344774p.Q240fs*33c.719_740del22Deletion - Frameshift
INO80EENSG00000169592ENST00000563197p.Y129*c.387C>ASubstitution - Nonsense
VN1R2ENSG00000196131ENST00000341702p.S64Lc.191C>TSubstitution - Missense
RFPL3ENSG00000128276ENST00000397468p.V155Vc.465G>ASubstitution - coding silent
DGCR14ENSG00000100056ENST00000252137p.G350Gc.1050C>TSubstitution - coding silent
DNMT3LENSG00000142182ENST00000270172p.P247Tc.739C>ASubstitution - Missense
XM_290867.2p.?c.942-4C>AUnknown
PLEKHF1ENSG00000166289ENST00000436066p.A273Vc.818C>TSubstitution - Missense
C1orf168ENSG00000187889ENST00000343433p.G538Rc.1612G>ASubstitution - Missense
PLEKHG5ENSG00000171680ENST00000377748p.R977Hc.2930G>ASubstitution - Missense
DAPK2ENSG00000035664ENST00000261891p.K143Kc.429G>ASubstitution - coding silent
OR4M2ENSG00000182974ENST00000332663p.P167Sc.499C>TSubstitution - Missense
PIDDENSG00000177595ENST00000347755p.R878Cc.2632C>TSubstitution - Missense
ASTN1ENSG00000152092ENST00000361833p.R331Rc.993G>ASubstitution - coding silent
MYO3AENSG00000095777ENST00000265944p.E898Kc.2692G>ASubstitution - Missense
ENST00000429306p.P289Sc.865C>TSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.L3051Fc.9151C>TSubstitution - Missense
HEXAENSG00000213614ENST00000268097p.?c.570+6C>TUnknown
CDH12ENSG00000154162ENST00000382254p.E231*c.691G>TSubstitution - Nonsense
ENST00000290186p.T85Tc.255G>ASubstitution - coding silent
CD300EENSG00000186407ENST00000328630p.R51Qc.152G>ASubstitution - Missense
PKD1L1ENSG00000158683ENST00000289672p.F326Fc.978C>TSubstitution - coding silent
XRCC4ENSG00000152422ENST00000338635p.N141Sc.422A>GSubstitution - Missense
KIF18BENSG00000186185ENST00000590129p.L448Fc.1342C>TSubstitution - Missense
PMFBP1ENSG00000118557ENST00000537465p.R914*c.2740C>TSubstitution - Nonsense
TNXBENSG00000168477ENST00000375244p.R2798Hc.8393G>ASubstitution - Missense
KIAA0895ENSG00000164542ENST00000338533p.S10Sc.30G>ASubstitution - coding silent
MAP2K2ENSG00000126934ENST00000262948p.P269Pc.807G>ASubstitution - coding silent
KIF18BENSG00000186185ENST00000339151p.L439Fc.1315C>TSubstitution - Missense
SNCAIPENSG00000064692ENST00000503116p.?c.1679-4C>TUnknown
FRG1ENSG00000109536ENST00000226798p.S169Sc.507T>CSubstitution - coding silent
CHKBENSG00000100288ENST00000406938p.F189fs*7c.565_568delTTTGDeletion - Frameshift
CACNA1BENSG00000148408ENST00000371372p.C1741Cc.5223T>CSubstitution - coding silent
CARD8ENSG00000105483ENST00000391898p.A282Ac.846C>TSubstitution - coding silent
WBSCR28ENSG00000175877ENST00000320531p.R29Qc.86G>ASubstitution - Missense
RHBDD2ENSG00000005486ENST00000006777p.Q278*c.832C>TSubstitution - Nonsense
CDH12ENSG00000154162ENST00000382254p.R46Qc.137G>ASubstitution - Missense
ENST00000405167p.P2258Lc.6773C>TSubstitution - Missense
ZNF880ENSG00000221923ENST00000422689p.G336fs*9c.1003delGDeletion - Frameshift
EPS8L1ENSG00000131037ENST00000245618p.E544Ec.1632G>ASubstitution - coding silent
DEFB119ENSG00000180483ENST00000376315p.G65Rc.193G>ASubstitution - Missense
ATP8A1ENSG00000124406ENST00000264449p.G558*c.1672G>TSubstitution - Nonsense
BACE2ENSG00000182240ENST00000330333p.R495Lc.1484G>TSubstitution - Missense
ANKRD18AENSG00000180071ENST00000399703p.S243Sc.729T>CSubstitution - coding silent
ESF1ENSG00000089048ENST00000202816p.D546Gc.1637A>GSubstitution - Missense
NOTCH2NLENSG00000213240ENST00000362074p.F135Vc.403T>GSubstitution - Missense
CACNA1EENSG00000198216ENST00000367570p.S1906Fc.5717C>TSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.L1236Fc.3706C>TSubstitution - Missense
ENST00000438990p.M15Ic.45G>ASubstitution - Missense
OLFML2BENSG00000162745ENST00000294794p.I708Ic.2124C>TSubstitution - coding silent
SLC35F3ENSG00000183780ENST00000366618p.G391Rc.1171G>ASubstitution - Missense
VWA5AENSG00000110002ENST00000392748p.D273Ec.819T>GSubstitution - Missense
DDX60ENSG00000137628ENST00000393743p.R737Wc.2209C>TSubstitution - Missense
AP1S2ENSG00000182287ENST00000421527p.?c.127-8C>TUnknown
SEPHS2ENSG00000179918ENST00000478753p.Q264Qc.792A>GSubstitution - coding silent
TNXBENSG00000168477ENST00000375247p.R2885Hc.8654G>ASubstitution - Missense
FAM83BENSG00000168143ENST00000306858p.G998Ec.2993G>ASubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.G741Sc.2221G>ASubstitution - Missense
SERPINB9ENSG00000170542ENST00000380698p.E281Ec.843A>GSubstitution - coding silent
LAMA2ENSG00000196569ENST00000421865p.F1348Fc.4044C>TSubstitution - coding silent
C17orf47ENSG00000181013ENST00000321691p.P379Pc.1137C>GSubstitution - coding silent
MRVI1ENSG00000072952ENST00000436272p.P186Pc.558G>ASubstitution - coding silent
PITPNM1ENSG00000110697ENST00000534749p.S164*c.491C>ASubstitution - Nonsense
GALNT2ENSG00000143641ENST00000366672p.G95Rc.283G>ASubstitution - Missense
KRT39ENSG00000196859ENST00000355612p.R346Cc.1036C>TSubstitution - Missense
ZNF627ENSG00000198551ENST00000361113p.R267Qc.800G>ASubstitution - Missense
G6PDENSG00000160211ENST00000369620p.S300Sc.900C>TSubstitution - coding silent
MEGF8ENSG00000105429ENST00000334370p.G2682Vc.8045G>TSubstitution - Missense
ISPDENSG00000214960ENST00000407010p.S373Lc.1118C>TSubstitution - Missense
TIMD4ENSG00000145850ENST00000274532p.T204Ic.611C>TSubstitution - Missense
BCLAF1ENSG00000029363ENST00000531224p.G446Sc.1336G>ASubstitution - Missense
TRAF2ENSG00000127191ENST00000536468p.E126Ec.378A>GSubstitution - coding silent
LRP1BENSG00000168702ENST00000389484p.S4244Pc.12730T>CSubstitution - Missense
ENST00000319509_v65p.I176Ic.528C>TSubstitution - coding silent
KAT2BENSG00000114166ENST00000263754p.S744Sc.2232C>TSubstitution - coding silent
ACSF3ENSG00000176715ENST00000317447p.F316Ic.946T>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.R21232Cc.63694C>TSubstitution - Missense
CDK14ENSG00000058091ENST00000380050p.G187Rc.559G>ASubstitution - Missense
ADCY7ENSG00000121281ENST00000394697p.Q290Lc.869A>TSubstitution - Missense
KDM3AENSG00000115548ENST00000409556p.N755Kc.2265C>ASubstitution - Missense
SU_WNK2p.T1027Pc.3079A>CSubstitution - Missense
FLCNENSG00000154803ENST00000285071p.Y463Hc.1387T>CSubstitution - Missense
COL3A1ENSG00000168542ENST00000304636p.P907Sc.2719C>TSubstitution - Missense
CLCA4ENSG00000016602ENST00000370563p.L476Lc.1428T>CSubstitution - coding silent
ENST00000341288p.K611Rc.1832A>GSubstitution - Missense
ADAMTS17ENSG00000140470ENST00000268070p.R176Qc.527G>ASubstitution - Missense
CACNA1EENSG00000198216ENST00000367573p.S1906Fc.5717C>TSubstitution - Missense
OVGP1ENSG00000085465ENST00000369732p.R384Qc.1151G>ASubstitution - Missense
SETD1BENSG00000139718ENST00000267197p.S247Sc.741C>TSubstitution - coding silent
EPHB2ENSG00000133216ENST00000374632p.G413Gc.1239C>TSubstitution - coding silent
ENST00000349637p.L3030Fc.9088C>TSubstitution - Missense
RAP1GAPENSG00000076864ENST00000374761p.F524Fc.1572C>TSubstitution - coding silent
GRM8ENSG00000179603ENST00000358373p.G149Gc.447C>TSubstitution - coding silent
ABCF2ENSG00000033050ENST00000222388p.?c.368-8C>TUnknown
CRB2ENSG00000148204ENST00000359999p.T51Tc.153C>TSubstitution - coding silent
FILIP1ENSG00000118407ENST00000393004p.E831Kc.2491G>ASubstitution - Missense
L3MBTL1ENSG00000185513ENST00000422861p.R53Cc.157C>TSubstitution - Missense
CCR3ENSG00000183625ENST00000545097p.I112Ic.336C>TSubstitution - coding silent
ZNF550ENSG00000251369ENST00000457177p.T254Ic.761C>TSubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.D1810Ac.5429A>CSubstitution - Missense
PCDHGA6ENSG00000253731ENST00000517434p.I562Fc.1684A>TSubstitution - Missense
VPS53ENSG00000141252ENST00000291074p.V294Ac.881T>CSubstitution - Missense
NLRP1ENSG00000091592ENST00000572272p.P450Pc.1350C>ASubstitution - coding silent
MAP9ENSG00000164114ENST00000311277p.T548Sc.1643C>GSubstitution - Missense
KATNB1ENSG00000140854ENST00000379661p.A149Ac.447C>TSubstitution - coding silent
ASH2LENSG00000129691ENST00000343823p.?c.189-7C>AUnknown
MUC4ENSG00000145113ENST00000463781p.G2412Sc.7234G>ASubstitution - Missense
SMOC2ENSG00000112562ENST00000417208p.S82Fc.245C>TSubstitution - Missense
KRTAP8-1ENSG00000183640ENST00000329621p.Y54Hc.160T>CSubstitution - Missense
PDXKENSG00000160209ENST00000291565p.?c.623-8C>TUnknown
TMEM110ENSG00000213533ENST00000355083p.L176Ic.526C>ASubstitution - Missense
SLC26A9ENSG00000174502ENST00000367134p.L62Lc.186C>TSubstitution - coding silent
IGFN1ENSG00000163395ENST00000335211p.G3020Ec.9059G>ASubstitution - Missense
TP53BP1ENSG00000067369ENST00000263801p.G1331Gc.3993G>ASubstitution - coding silent
C11orf85ENSG00000168070ENST00000301896p.F87Fc.261C>TSubstitution - coding silent
GRAMD1BENSG00000023171ENST00000529750p.K418Kc.1254G>ASubstitution - coding silent
FAM131BENSG00000159784ENST00000409346p.S200Lc.599C>TSubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.A3595Dc.10784C>ASubstitution - Missense
LIPEENSG00000079435ENST00000244289p.A351Vc.1052C>TSubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.G813Sc.2437G>ASubstitution - Missense
CREB3L3ENSG00000060566ENST00000078445p.L184Lc.552C>TSubstitution - coding silent
CYP2B6ENSG00000197408ENST00000324071p.L293Fc.877C>TSubstitution - Missense
TNS3ENSG00000136205ENST00000311160p.R198Qc.593G>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.?c.354+10_586+754del1567Unknown
NLRP1ENSG00000091592ENST00000572272p.P450Lc.1349C>TSubstitution - Missense
EDARENSG00000135960ENST00000409271p.P222Pc.666C>TSubstitution - coding silent
ENST00000405167p.G2412Sc.7234G>ASubstitution - Missense
THOC5ENSG00000100296ENST00000397871p.?c.1067-7C>GUnknown
DTYMKENSG00000168393ENST00000305784p.H188Nc.562C>ASubstitution - Missense
ENST00000356127p.P9317Sc.27949C>TSubstitution - Missense
COL6A1ENSG00000142156ENST00000361866p.D915Dc.2745C>TSubstitution - coding silent
HSDL1ENSG00000103160ENST00000219439p.L189Lc.565T>CSubstitution - coding silent
MACF1ENSG00000127603ENST00000361689p.A3595Dc.10784C>ASubstitution - Missense
ENST00000398860p.D1811Nc.5431G>ASubstitution - Missense
PLEKHA5ENSG00000052126ENST00000429027p.?c.3468+4G>AUnknown
SORBS3ENSG00000120896ENST00000240123p.A537Tc.1609G>ASubstitution - Missense
CDC27ENSG00000004897ENST00000531206p.L438Sc.1313T>CSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.R1761Kc.5282G>ASubstitution - Missense
CACNB4ENSG00000182389ENST00000539935p.?c.869-8C>TUnknown
SPATA18ENSG00000163071ENST00000295213p.S309Fc.926C>TSubstitution - Missense
PCDHB8ENSG00000120322ENST00000239444p.R249Rc.747G>ASubstitution - coding silent
ENST00000225973p.?c.103-4G>AUnknown
PCLOENSG00000186472ENST00000333891p.R1761Kc.5282G>ASubstitution - Missense
ACAP1ENSG00000072818ENST00000158762p.K545Ec.1633A>GSubstitution - Missense
NLRP5ENSG00000171487ENST00000390649p.R280Hc.839G>ASubstitution - Missense
CHRNA6ENSG00000147434ENST00000276410p.M355Lc.1063A>TSubstitution - Missense
NFKB1ENSG00000109320ENST00000226574p.P174Ac.520C>GSubstitution - Missense
LILRB2ENSG00000131042ENST00000314446p.?c.1258+5G>AUnknown
PRR14LENSG00000183530ENST00000330495p.P262Lc.785C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.F8280Fc.24840C>TSubstitution - coding silent
ENST00000541862p.E402Kc.1204G>ASubstitution - Missense
ENST00000360660p.A540Ac.1620G>ASubstitution - coding silent
CES5AENSG00000159398ENST00000319165p.F144Fc.432C>TSubstitution - coding silent
ESX1ENSG00000123576ENST00000372588p.A283Tc.847G>ASubstitution - Missense
TDRD15ENSG00000218819ENST00000405799p.E1393Kc.4177G>ASubstitution - Missense
ENST00000380947p.P465Sc.1393C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.P3878Sc.11632C>TSubstitution - Missense
PKD1L2ENSG00000166473ENST00000525539p.V523Ac.1568T>CSubstitution - Missense
MPHOSPH9ENSG00000051825ENST00000541076p.I429Sc.1286T>GSubstitution - Missense
NELL1ENSG00000165973ENST00000357134p.S285Cc.854C>GSubstitution - Missense
CDC42EP2ENSG00000149798ENST00000279249p.M199Ic.597G>ASubstitution - Missense
KIR3DL1ENSG00000167633ENST00000391728p.V168Ic.502G>ASubstitution - Missense
AKAP3ENSG00000111254ENST00000228850p.D697Nc.2089G>ASubstitution - Missense
OR10S1ENSG00000196248ENST00000531945p.R153Rc.459G>ASubstitution - coding silent
GRAMD1BENSG00000023171ENST00000322282p.K418Kc.1254G>ASubstitution - coding silent
FUKENSG00000157353ENST00000288078p.T42Mc.125C>TSubstitution - Missense
ENST00000377143p.R260Cc.778C>TSubstitution - Missense
MRPS18AENSG00000096080ENST00000427312p.T41Tc.123C>TSubstitution - coding silent
USP40ENSG00000085982ENST00000409945p.?c.176-8C>AUnknown
CLCN2ENSG00000114859ENST00000265593p.?c.1326+4G>AUnknown
LCORLENSG00000178177ENST00000326877p.G52Gc.156T>GSubstitution - coding silent
HOPXENSG00000171476ENST00000317745p.S70Fc.209C>TSubstitution - Missense
RYR1ENSG00000196218ENST00000359596p.A4655Ac.13965C>TSubstitution - coding silent
NM_001198.2p.G383Dc.1148G>ASubstitution - Missense
BDP1ENSG00000145734ENST00000358731p.T1326Ic.3977C>TSubstitution - Missense
CCR3ENSG00000183625ENST00000357422p.I91Ic.273C>TSubstitution - coding silent
WNK3ENSG00000196632ENST00000354646p.L1463Lc.4387T>CSubstitution - coding silent
KCNK5ENSG00000164626ENST00000359534p.G122Gc.366G>ASubstitution - coding silent
CDH5ENSG00000179776ENST00000341529p.T62Pc.184A>CSubstitution - Missense
SLC9A4ENSG00000180251ENST00000295269p.Y321fs*88c.961_962delTADeletion - Frameshift
ZNF705GENSG00000215372ENST00000400156p.E219Kc.655G>ASubstitution - Missense
ENST00000292520p.R420Cc.1258C>TSubstitution - Missense
CHODLENSG00000154645ENST00000299295p.G66Rc.196G>ASubstitution - Missense
CES5AENSG00000159398ENST00000521992p.F173Fc.519C>TSubstitution - coding silent
MAP3K3ENSG00000198909ENST00000361733p.E537Ec.1611G>ASubstitution - coding silent
GIT1ENSG00000108262ENST00000394869p.T351Ic.1052C>TSubstitution - Missense
SLC4A11ENSG00000088836ENST00000380059p.M205Tc.614T>CSubstitution - Missense
MCPH1ENSG00000147316ENST00000344683p.N301Nc.903C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.P3811Sc.11431C>TSubstitution - Missense
GATAD2AENSG00000167491ENST00000360315p.P484Pc.1452C>TSubstitution - coding silent
SEPHS2ENSG00000179918ENST00000500504p.Q264Qc.792A>GSubstitution - coding silent
SRRM2ENSG00000167978ENST00000301740p.T627Tc.1881C>TSubstitution - coding silent
MUC3AENSG00000169894ENST00000319509p.I176Ic.528C>TSubstitution - coding silent
G6PDENSG00000160211ENST00000393562p.?c.861-9C>TUnknown
HACL1ENSG00000131373ENST00000321169p.A567Tc.1699G>ASubstitution - Missense
IGSF10ENSG00000152580ENST00000282466p.P337Lc.1010C>TSubstitution - Missense
MYT1ENSG00000196132ENST00000328439p.K517Qc.1549A>CSubstitution - Missense
BANPENSG00000172530ENST00000393207p.I418Ic.1254C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.F14652Fc.43956C>TSubstitution - coding silent
STX16ENSG00000124222ENST00000371132p.R14Rc.42G>ASubstitution - coding silent
QRICH2ENSG00000129646ENST00000262765p.R1625Hc.4874G>ASubstitution - Missense
NPBWR1ENSG00000183729ENST00000331251p.R316Rc.948G>ASubstitution - coding silent
OSMRENSG00000145623ENST00000274276p.V440Vc.1320G>ASubstitution - coding silent
C1orf195ENSG00000204464ENST00000376005p.R91Hc.272G>ASubstitution - Missense
ENST00000429306p.I227Vc.679A>GSubstitution - Missense
MUS81ENSG00000172732ENST00000308110p.Q292Ec.874C>GSubstitution - Missense
GPR52ENSG00000203737ENST00000367685p.G91Gc.273A>TSubstitution - coding silent
OBSCNENSG00000154358ENST00000570156p.Y2409Hc.7225T>CSubstitution - Missense
NLRP4ENSG00000160505ENST00000301295p.G937Ec.2810G>ASubstitution - Missense
ENST00000378024_v70p.D4819Ec.14457T>GSubstitution - Missense
OR8H2ENSG00000181767ENST00000313503p.F29Ic.85T>ASubstitution - Missense
OR51Q1ENSG00000167360ENST00000300778p.T17Tc.51G>ASubstitution - coding silent
RGS14ENSG00000169220ENST00000408923p.T111Tc.333C>TSubstitution - coding silent
PMFBP1ENSG00000118557ENST00000237353p.L908Lc.2724C>TSubstitution - coding silent
NEBENSG00000183091ENST00000427231p.T6949Tc.20847G>ASubstitution - coding silent
ISPDENSG00000214960ENST00000407010p.S373Lc.1118C>TSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
ABCF2ENSG00000033050ENST00000287844p.?c.368-8C>TUnknown
NF1ENSG00000196712ENST00000358273p.S2585Fc.7754C>TSubstitution - Missense
R3HDM1ENSG00000048991ENST00000264160p.E240Ec.720A>GSubstitution - coding silent
CLIP2ENSG00000106665ENST00000223398p.R22Wc.64C>TSubstitution - Missense
FAM161AENSG00000170264ENST00000405894p.D479Gc.1436A>GSubstitution - Missense
KIAA1244ENSG00000112379ENST00000251691p.D1935Nc.5803G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.R12336Qc.37007G>ASubstitution - Missense
DCAF4L2ENSG00000176566ENST00000319675p.P6Ac.16C>GSubstitution - Missense
NM_002200.3p.R98Qc.293G>ASubstitution - Missense
SLC4A11ENSG00000088836ENST00000380056p.M178Tc.533T>CSubstitution - Missense
NBPF9ENSG00000168614ENST00000338347p.R117Qc.350G>ASubstitution - Missense
TRIM58ENSG00000162722ENST00000366481p.K230Kc.690G>ASubstitution - coding silent
AP4B1ENSG00000134262ENST00000369569p.A418Tc.1252G>ASubstitution - Missense
ENST00000369176p.S87Nc.260G>ASubstitution - Missense
CDK1ENSG00000170312ENST00000395284p.P95Sc.283C>TSubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.K2210Kc.6630G>ASubstitution - coding silent
TAS2R10ENSG00000121318ENST00000240619p.S77Sc.231C>TSubstitution - coding silent
NPFFR2ENSG00000056291ENST00000308744p.R309Qc.926G>ASubstitution - Missense
LPHN3ENSG00000150471ENST00000507625p.E1372Gc.4115A>GSubstitution - Missense
CACNA1BENSG00000148408ENST00000277549p.C935Cc.2805T>CSubstitution - coding silent
COL4A5ENSG00000188153ENST00000328300p.G1095Sc.3283G>ASubstitution - Missense
MAP3K3ENSG00000198909ENST00000361357p.E568Ec.1704G>ASubstitution - coding silent
DNAH6ENSG00000115423ENST00000398278p.?c.2868+9G>TUnknown
SNAP47ENSG00000143740ENST00000315781p.L378Vc.1132C>GSubstitution - Missense
KIAA1191ENSG00000122203ENST00000298569p.P60Lc.179C>TSubstitution - Missense
XM_375550.2p.A740Ac.2220C>GSubstitution - coding silent
MEGF8ENSG00000105429ENST00000251268p.G2290Vc.6869G>TSubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.V5358Vc.16074G>ASubstitution - coding silent
TRAF2ENSG00000127191ENST00000359662p.E178Ec.534A>GSubstitution - coding silent
INCA1ENSG00000196388ENST00000396829p.E168Kc.502G>ASubstitution - Missense
NEDD9ENSG00000111859ENST00000504387p.P289Lc.866C>TSubstitution - Missense
MAGEE1ENSG00000198934ENST00000361470p.P321Rc.962C>GSubstitution - Missense
NM_000052.2p.C903Cc.2709C>TSubstitution - coding silent
ADAM22ENSG00000008277ENST00000398209p.?c.1486-2A>GUnknown
RHBDD2ENSG00000005486ENST00000318622p.Q137*c.409C>TSubstitution - Nonsense
SLC35D3ENSG00000182747ENST00000331858p.P367Lc.1100C>TSubstitution - Missense
TNS3ENSG00000136205ENST00000442536p.R198Qc.593G>ASubstitution - Missense
FASTKD1ENSG00000138399ENST00000453153p.?c.446+2C>TUnknown
PDE4DENSG00000113448ENST00000405755p.I590Ic.1770C>TSubstitution - coding silent
PPIL2ENSG00000100023ENST00000335025p.V67Ic.199G>ASubstitution - Missense
IMMP2LENSG00000184903ENST00000437687p.L107Vc.319C>GSubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
RANBP9ENSG00000010017ENST00000011619p.F334Fc.1002C>TSubstitution - coding silent
ERP44ENSG00000023318ENST00000262455p.V23Vc.69T>GSubstitution - coding silent
NM_014959.1p.A176Ac.528C>TSubstitution - coding silent
IL1RL2ENSG00000115598ENST00000264257p.R368Qc.1103G>ASubstitution - Missense
ACVR2BENSG00000114739ENST00000352511p.S490Sc.1470G>ASubstitution - coding silent
PRDM8ENSG00000152784ENST00000339711p.P614Pc.1842C>GSubstitution - coding silent
ENST00000356127p.K10203Kc.30609G>ASubstitution - coding silent
C17orf85ENSG00000074356ENST00000158149p.P199Pc.597A>GSubstitution - coding silent
RGL3ENSG00000205517ENST00000380456p.?c.1650-4C>AUnknown
DOT1LENSG00000104885ENST00000398665p.P752Sc.2254C>TSubstitution - Missense
TMEM56ENSG00000152078ENST00000370203p.A95Ac.285C>TSubstitution - coding silent
FBXL22ENSG00000197361ENST00000360587p.D35Dc.105C>TSubstitution - coding silent
VWA9ENSG00000138614ENST00000567744p.Y82Yc.246C>TSubstitution - coding silent
MAST2ENSG00000086015ENST00000361297p.L1271Lc.3813T>CSubstitution - coding silent
LRRK2ENSG00000188906ENST00000298910p.D972Gc.2915A>GSubstitution - Missense
SU_LRRK2p.D972Gc.2915A>GSubstitution - Missense
TRIM11ENSG00000154370ENST00000284551p.R351Cc.1051C>TSubstitution - Missense
SORL1ENSG00000137642ENST00000260197p.R766Rc.2298G>ASubstitution - coding silent
TAF1AENSG00000143498ENST00000352967p.Q62Rc.185A>GSubstitution - Missense
HTRA3ENSG00000170801ENST00000382512p.D297Nc.889G>ASubstitution - Missense
C11orf35ENSG00000185522ENST00000329451p.V441Vc.1323T>CSubstitution - coding silent
NWD1ENSG00000188039ENST00000524140p.V187Ic.559G>ASubstitution - Missense
CHD6ENSG00000124177ENST00000373233p.P224Lc.671C>TSubstitution - Missense
NEBENSG00000183091ENST00000409198p.T5248Tc.15744G>ASubstitution - coding silent
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000416767p.?c.354+10_586+754del1567Unknown
ACHEENSG00000087085ENST00000412389p.D36Hc.106G>CSubstitution - Missense
PCDH18ENSG00000189184ENST00000344876p.I356Ic.1068C>ASubstitution - coding silent
CDH3ENSG00000062038ENST00000264012p.K132Kc.396G>ASubstitution - coding silent
MYO18BENSG00000133454ENST00000335473p.Q2169*c.6505C>TSubstitution - Nonsense
ABI3BPENSG00000154175ENST00000471714p.T1186Tc.3558A>TSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.R14927Cc.44779C>TSubstitution - Missense
C19orf38ENSG00000214212ENST00000397820p.C88Cc.264C>TSubstitution - coding silent
CRYZENSG00000116791ENST00000340866p.D111Nc.331G>ASubstitution - Missense
IFT88ENSG00000032742ENST00000319980p.R378Rc.1134T>CSubstitution - coding silent
NASPENSG00000132780ENST00000350030p.K609Rc.1826A>GSubstitution - Missense
DCDC1ENSG00000170959ENST00000339794p.I616Vc.1846A>GSubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.A4097Dc.12290C>ASubstitution - Missense
SLC39A13ENSG00000165915ENST00000354884p.A253Tc.757G>ASubstitution - Missense
SNAP47ENSG00000143740ENST00000366759p.L378Vc.1132C>GSubstitution - Missense
CAPN2ENSG00000162909ENST00000295006p.?c.238-9C>TUnknown
ZNF678ENSG00000181450ENST00000397097p.K576fs*>5c.1723delADeletion - Frameshift
FAM131BENSG00000159784ENST00000443739p.S228Lc.683C>TSubstitution - Missense
GALNT6ENSG00000139629ENST00000356317p.R465*c.1393C>TSubstitution - Nonsense
KIF4AENSG00000090889ENST00000374388p.R702Lc.2105G>TSubstitution - Missense
PPIL2ENSG00000100023ENST00000412327p.V67Ic.199G>ASubstitution - Missense
STX16ENSG00000124222ENST00000361770p.R14Rc.42G>ASubstitution - coding silent
ZNF618ENSG00000157657ENST00000374126p.G454Vc.1361G>TSubstitution - Missense
HHLA1ENSG00000132297ENST00000414222p.T66Mc.197C>TSubstitution - Missense
OR1L8ENSG00000171496ENST00000304865p.G17Rc.49G>ASubstitution - Missense
NWD1ENSG00000188039ENST00000339803p.V52Ic.154G>ASubstitution - Missense
ENST00000341597p.G467Ac.1400G>CSubstitution - Missense
CACNB4ENSG00000182389ENST00000539935p.?c.869-8C>TUnknown
FUKENSG00000157353ENST00000428974p.T42Mc.125C>TSubstitution - Missense
APBB3ENSG00000113108ENST00000354402p.?c.768+3_768+6delaagtUnknown
C17orf53ENSG00000125319ENST00000319977p.P339Lc.1016C>TSubstitution - Missense
NLRP1ENSG00000091592ENST00000572272p.L449Pc.1346T>CSubstitution - Missense
ALS2CLENSG00000178038ENST00000318962p.H948Yc.2842C>TSubstitution - Missense


COSMIC

9 mutations reported
5 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
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense24838835
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense20689758
CDKN2AENSG00000147889ENST00000304494p.0?c.1_471del471Whole gene deletion17260012
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense17260012
PTENENSG00000171862ENST00000371953p.?c.?_?del?Unknown17260012
PTENENSG00000171862ENST00000371953p.?fsc.?del?Deletion - Frameshift9288767
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense17699719
CDKN2AENSG00000147889ENST00000304494p.?c.1_150del150Unknown8938142
CDKN2AENSG00000147889ENST00000304494p.?c.?_?del?Unknown8895759