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SCC-9 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

522 mutations reported
186 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
JMJD7-PLA2G4BENSG00000168970ENST00000382448p.D329Nc.985G>ASubstitution - Missense
ATG2BENSG00000066739ENST00000359933p.R596Qc.1787G>ASubstitution - Missense
SMAD3ENSG00000166949ENST00000439724p.L109Lc.325C>TSubstitution - coding silent
SPRED1ENSG00000166068ENST00000299084p.?c.685-8T>CUnknown
RFX3ENSG00000080298ENST00000358730p.A645Vc.1934C>TSubstitution - Missense
KATNB1ENSG00000140854ENST00000379661p.D469Hc.1405G>CSubstitution - Missense
C6orf99ENSG00000203711ENST00000367072p.R94Cc.280C>TSubstitution - Missense
RSRC1ENSG00000174891ENST00000295930p.R90*c.268C>TSubstitution - Nonsense
NSMCE2ENSG00000156831ENST00000287437p.D72Yc.214G>TSubstitution - Missense
NBPF20ENSG00000203832ENST00000369202p.F35Lc.105C>GSubstitution - Missense
NINENSG00000100503ENST00000453196p.T22Mc.65C>TSubstitution - Missense
SYNJ2ENSG00000078269ENST00000355585p.P1213Pc.3639G>ASubstitution - coding silent
KCNJ1ENSG00000151704ENST00000392664p.T386Ic.1157C>TSubstitution - Missense
CRABP1ENSG00000166426ENST00000299529p.T99Tc.297T>GSubstitution - coding silent
ENST00000394982p.S93Sc.279T>CSubstitution - coding silent
NBPF9ENSG00000168614ENST00000375552p.K124*c.370A>TSubstitution - Nonsense
BAZ1AENSG00000198604ENST00000382422p.S1339Nc.4016G>ASubstitution - Missense
NINENSG00000100503ENST00000382041p.T22Mc.65C>TSubstitution - Missense
KDM3AENSG00000115548ENST00000409556p.V741Lc.2221G>CSubstitution - Missense
CYP11B1ENSG00000160882ENST00000292427p.E8Dc.24G>CSubstitution - Missense
NM_152536.2p.N886Nc.2658C>TSubstitution - coding silent
KCNMB3ENSG00000171121ENST00000314235p.V231Gc.692T>GSubstitution - Missense
NCEH1ENSG00000144959ENST00000273512p.P131Pc.393G>CSubstitution - coding silent
OR51T1ENSG00000176900ENST00000380378p.A266Vc.797C>TSubstitution - Missense
SHFENSG00000138606ENST00000318390p.K134Qc.400A>CSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.D510Dc.1530C>TSubstitution - coding silent
ITGA7ENSG00000135424ENST00000257880p.V868Lc.2602G>TSubstitution - Missense
SLC35C2ENSG00000080189ENST00000543605p.A90Sc.268G>TSubstitution - Missense
SULT1A1ENSG00000196502ENST00000350842p.A203Ac.609G>ASubstitution - coding silent
TRAFD1ENSG00000135148ENST00000412615p.H384Hc.1152T>CSubstitution - coding silent
OR52I1ENSG00000232268ENST00000450052p.Y160Hc.478T>CSubstitution - Missense
EPB42ENSG00000166947ENST00000300215p.A19Vc.56C>TSubstitution - Missense
SCGB1C1ENSG00000188076ENST00000342878p.?c.255+10C>TUnknown
RFX7ENSG00000181827ENST00000423270p.T955Tc.2865T>ASubstitution - coding silent
PHBENSG00000167085ENST00000300408p.G176Ac.527G>CSubstitution - Missense
CACNG5ENSG00000075429ENST00000169565p.G176Rc.526G>ASubstitution - Missense
ENST00000375112p.?c.80-5T>CUnknown
URB1ENSG00000142207ENST00000382751p.P1487Pc.4461G>ASubstitution - coding silent
PCDH18ENSG00000189184ENST00000344876p.H746Hc.2238C>TSubstitution - coding silent
TBC1D9ENSG00000109436ENST00000442267p.L652Qc.1955T>ASubstitution - Missense
GPR116ENSG00000069122ENST00000265417p.I493Ic.1479C>TSubstitution - coding silent
ENST00000434489p.A240Vc.719C>TSubstitution - Missense
ZNF638ENSG00000075292ENST00000377802p.R487Cc.1459C>TSubstitution - Missense
SU_WNK2p.P2183Pc.6549C>TSubstitution - coding silent
CARD9ENSG00000187796ENST00000371734p.L118Lc.352C>TSubstitution - coding silent
TP53BP1ENSG00000067369ENST00000263801p.R1238Cc.3712C>TSubstitution - Missense
DNA2ENSG00000138346ENST00000399180p.M830Vc.2488A>GSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.T2021Ic.6062C>TSubstitution - Missense
NIPBLENSG00000164190ENST00000282516p.K565Ec.1693A>GSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.C275fs*20c.822_853del32Deletion - Frameshift
TGIF2ENSG00000118707ENST00000373872p.P88Hc.263C>ASubstitution - Missense
ZNF831ENSG00000124203ENST00000371030p.L755Lc.2263C>TSubstitution - coding silent
DECR2ENSG00000242612ENST00000397710p.S135Fc.404C>TSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.L4004Lc.12010C>TSubstitution - coding silent
EAF1ENSG00000144597ENST00000396842p.?c.336-3C>GUnknown
PLK4ENSG00000142731ENST00000270861p.P819Sc.2455C>TSubstitution - Missense
MOV10L1ENSG00000073146ENST00000540615p.R142Qc.425G>ASubstitution - Missense
FAAH2ENSG00000165591ENST00000374900p.N141Nc.423T>CSubstitution - coding silent
HRASENSG00000174775ENST00000397596p.L133Rc.398T>GSubstitution - Missense
FRMD4AENSG00000151474ENST00000342409p.?c.159+5_159+6insAUnknown
DNA2ENSG00000138346ENST00000358410p.V825Mc.2473G>ASubstitution - Missense
CASP12ENSG00000204403ENST00000422698p.S161Yc.482C>ASubstitution - Missense
DNAL1ENSG00000119661ENST00000553645p.A12Vc.35C>TSubstitution - Missense
NUSAP1ENSG00000137804ENST00000559596p.S5Tc.13T>ASubstitution - Missense
SNTA1ENSG00000101400ENST00000217381p.F465Sc.1394T>CSubstitution - Missense
NIF3L1ENSG00000196290ENST00000359683p.W78*c.234G>ASubstitution - Nonsense
PMS2ENSG00000122512ENST00000265849p.G207Ec.620G>ASubstitution - Missense
SPTBN1ENSG00000115306ENST00000333896p.?c.5164-8C>TUnknown
ROR2ENSG00000169071ENST00000375708p.A759Ac.2277G>ASubstitution - coding silent
CCDC129ENSG00000180347ENST00000319386p.M647Vc.1939A>GSubstitution - Missense
RAPGEF2ENSG00000109756ENST00000264431p.A1356Ac.4068C>TSubstitution - coding silent
HLA-DRB1ENSG00000196126ENST00000360004p.A87Dc.260C>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.C275fs*20c.822_853del32Deletion - Frameshift
ABCC8ENSG00000006071ENST00000389817p.?c.412+7G>AUnknown
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
VWA3AENSG00000175267ENST00000389397p.S169Rc.507C>ASubstitution - Missense
VWA3AENSG00000175267ENST00000299840p.S263Rc.789C>ASubstitution - Missense
SART3ENSG00000075856ENST00000546611p.R41Wc.121C>TSubstitution - Missense
ZNF646ENSG00000167395ENST00000394979p.P1109Lc.3326C>TSubstitution - Missense
USH2AENSG00000042781ENST00000366942p.D510Dc.1530C>TSubstitution - coding silent
WNK2ENSG00000165238ENST00000427277p.P1810Pc.5430C>TSubstitution - coding silent
FAM13CENSG00000148541ENST00000422313p.M451Tc.1352T>CSubstitution - Missense
TUBGCP5ENSG00000153575ENST00000283645p.I74Vc.220A>GSubstitution - Missense
ALG10BENSG00000175548ENST00000308742p.V374Fc.1120G>TSubstitution - Missense
SU_SgK494p.Q50_G55delQHTQQGc.148_165del18Deletion - In frame
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
PER1ENSG00000179094ENST00000317276p.E536Ec.1608G>ASubstitution - coding silent
ENST00000354677p.P471Pc.1413A>CSubstitution - coding silent
PUM2ENSG00000055917ENST00000338086p.P1055Tc.3163C>ASubstitution - Missense
NM_144685p.F22Sc.65T>CSubstitution - Missense
CCDC129ENSG00000180347ENST00000407970p.M795Vc.2383A>GSubstitution - Missense
CCHCR1ENSG00000204536ENST00000376266p.?c.698+10C>TUnknown
ENST00000264546_v70p.?c.210+5_210+6insAUnknown
SERINC2ENSG00000168528ENST00000373710p.C258Cc.774C>TSubstitution - coding silent
C6orf118ENSG00000112539ENST00000543069p.G104Vc.311G>TSubstitution - Missense
NEBENSG00000183091ENST00000397345p.A8174Tc.24520G>ASubstitution - Missense
E2F8ENSG00000129173ENST00000250024p.Q428Qc.1284G>ASubstitution - coding silent
SH2B3ENSG00000111252ENST00000341259p.H386Hc.1158T>CSubstitution - coding silent
KRTAP10-11ENSG00000243489ENST00000334670p.R215Cc.643C>TSubstitution - Missense
NUP160ENSG00000030066ENST00000378460p.I204Vc.610A>GSubstitution - Missense
ERC2ENSG00000187672ENST00000288221p.N326Sc.977A>GSubstitution - Missense
TMEM256-PLSCR3ENSG00000187838ENST00000324822p.G188Sc.562G>ASubstitution - Missense
ZNF551ENSG00000204519ENST00000282296p.R318Pc.953G>CSubstitution - Missense
CORO1AENSG00000102879ENST00000219150p.G115Gc.345C>ASubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000354484p.H547Hc.1641C>TSubstitution - coding silent
PRUNE2ENSG00000106772ENST00000376717p.?c.68+2T>AUnknown
OR51T1ENSG00000176900ENST00000322049p.A239Vc.716C>TSubstitution - Missense
ZNF618ENSG00000157657ENST00000374126p.T133Ac.397A>GSubstitution - Missense
MLXIPENSG00000175727ENST00000377037p.P32Pc.96G>ASubstitution - coding silent
SOGA2ENSG00000168502ENST00000306285p.?c.2697+3A>GUnknown
IMPG2ENSG00000081148ENST00000193391p.S624Sc.1872C>TSubstitution - coding silent
TTLL6ENSG00000170703ENST00000393382p.P365Lc.1094C>TSubstitution - Missense
CHTF18ENSG00000127586ENST00000262315p.H645Hc.1935C>TSubstitution - coding silent
LRRC8EENSG00000171017ENST00000306708p.N545Nc.1635C>TSubstitution - coding silent
UMODL1ENSG00000177398ENST00000408989p.D753Hc.2257G>CSubstitution - Missense
TTC26ENSG00000105948ENST00000464848p.?c.792+9C>AUnknown
NT5DC2ENSG00000168268ENST00000307076p.W235*c.704G>ASubstitution - Nonsense
MUC4ENSG00000145113ENST00000463781p.R3900Hc.11699G>ASubstitution - Missense
NM_007349.2p.V886Vc.2658C>TSubstitution - coding silent
HIPK4ENSG00000160396ENST00000291823p.F22Sc.65T>CSubstitution - Missense
ENST00000293882_v62p.Y204Yc.612C>TSubstitution - coding silent
FAM84BENSG00000168672ENST00000304916p.V142Mc.424G>ASubstitution - Missense
TGENSG00000042832ENST00000220616p.R1214Qc.3641G>ASubstitution - Missense
WNK2ENSG00000165238ENST00000395477p.P2198Pc.6594C>TSubstitution - coding silent
KCNK1ENSG00000135750ENST00000446915p.L5Fc.15A>TSubstitution - Missense
SPAG6ENSG00000077327ENST00000376603p.S265Sc.795G>ASubstitution - coding silent
NBPF9ENSG00000168614ENST00000338347p.K125Mc.374A>TSubstitution - Missense
ACSM2AENSG00000183747ENST00000396104p.Y235Cc.704A>GSubstitution - Missense
NINENSG00000100503ENST00000245441p.E780Ec.2340G>ASubstitution - coding silent
CHRNB2ENSG00000160716ENST00000368476p.I458Ic.1374C>TSubstitution - coding silent
CHTF18ENSG00000127586ENST00000317063p.H854Hc.2562C>TSubstitution - coding silent
RIN2ENSG00000132669ENST00000255006p.T87Tc.261A>GSubstitution - coding silent
ZNF543ENSG00000178229ENST00000321545p.R154Hc.461G>ASubstitution - Missense
ALDH1L1ENSG00000144908ENST00000393434p.G37Ec.110G>ASubstitution - Missense
MAPK13ENSG00000156711ENST00000211287p.D292Dc.876C>TSubstitution - coding silent
COG5ENSG00000164597ENST00000297135p.A54Pc.160G>CSubstitution - Missense
MASP1ENSG00000127241ENST00000169293p.S109Cc.326C>GSubstitution - Missense
GLRA3ENSG00000145451ENST00000274093p.V93Mc.277G>ASubstitution - Missense
CCDC27ENSG00000162592ENST00000294600p.T181Mc.542C>TSubstitution - Missense
STILENSG00000123473ENST00000337817p.Q768Qc.2304A>GSubstitution - coding silent
NM_018993.2p.T38Tc.114A>GSubstitution - coding silent
MYLK2ENSG00000101306ENST00000375994p.M271Ic.813G>ASubstitution - Missense
C6orf118ENSG00000112539ENST00000230301p.G208Vc.623G>TSubstitution - Missense
CDPF1ENSG00000205643ENST00000314567p.R122Qc.365G>ASubstitution - Missense
FAM169AENSG00000198780ENST00000389156p.N296Sc.887A>GSubstitution - Missense
ZNF566ENSG00000186017ENST00000454319p.I95Tc.284T>CSubstitution - Missense
HSPG2ENSG00000142798ENST00000374695p.D3738Nc.11212G>ASubstitution - Missense
LMO7ENSG00000136153ENST00000341547p.I109Vc.325A>GSubstitution - Missense
C7orf49ENSG00000122783ENST00000393114p.E145_D146insEc.417_418insGAGInsertion - In frame
FRMD4AENSG00000151474ENST00000357447p.?c.111+5_111+6insAUnknown
SERINC2ENSG00000168528ENST00000373709p.C249Cc.747C>TSubstitution - coding silent
DNAH3ENSG00000158486ENST00000261383p.L2733Ic.8197C>ASubstitution - Missense
ENSG00000212670ENST00000391366p.S44Gc.130A>GSubstitution - Missense
OSGIN1ENSG00000140961ENST00000343939p.P366Lc.1097C>TSubstitution - Missense
ENST00000361868p.P55Sc.163C>TSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.C275fs*20c.822_853del32Deletion - Frameshift
WDR81ENSG00000167716ENST00000409644p.D1075Nc.3223G>ASubstitution - Missense
DYMENSG00000141627ENST00000269445p.S572Sc.1716A>GSubstitution - coding silent
VPS9D1ENSG00000075399ENST00000389386p.G601Rc.1801G>ASubstitution - Missense
WDFY3ENSG00000163625ENST00000295888p.E2416*c.7246G>TSubstitution - Nonsense
GCKRENSG00000084734ENST00000264717p.M371Ic.1113G>CSubstitution - Missense
COL6A3ENSG00000163359ENST00000295550p.T1893Mc.5678C>TSubstitution - Missense
MAPK13ENSG00000156711ENST00000211287p.D292Dc.876C>TSubstitution - coding silent
AP2B1ENSG00000006125ENST00000312678p.L547Lc.1641G>CSubstitution - coding silent
SLC35C2ENSG00000080189ENST00000372227p.A61Sc.181G>TSubstitution - Missense
NSD1ENSG00000165671ENST00000439151p.G1656Cc.4966G>TSubstitution - Missense
KIAA0947ENSG00000164151ENST00000296564p.G750Ac.2249G>CSubstitution - Missense
ANKS1BENSG00000185046ENST00000329257p.P401Lc.1202C>TSubstitution - Missense
HRASENSG00000174775ENST00000397594p.L133Rc.398T>GSubstitution - Missense
SYNE2ENSG00000054654ENST00000357395p.G972Dc.2915G>ASubstitution - Missense
WNK2ENSG00000165238ENST00000297954p.P2235Pc.6705C>TSubstitution - coding silent
WRAP73ENSG00000116213ENST00000270708p.T460Tc.1380G>ASubstitution - coding silent
OAS1ENSG00000089127ENST00000452357p.N6Nc.18T>CSubstitution - coding silent
STK32CENSG00000165752ENST00000298630p.R246Wc.736C>TSubstitution - Missense
TTLL13ENSG00000213471ENST00000339615p.T273Mc.818C>TSubstitution - Missense
EXOSC10ENSG00000171824ENST00000376936p.E284Kc.850G>ASubstitution - Missense
NINENSG00000100503ENST00000382041p.T22Mc.65C>TSubstitution - Missense
DNAJC17ENSG00000104129ENST00000220496p.E6Qc.16G>CSubstitution - Missense
STOML2ENSG00000165283ENST00000356493p.V247Ic.739G>ASubstitution - Missense
AATKENSG00000181409ENST00000326724p.S868*c.2603C>GSubstitution - Nonsense
PHLPP1ENSG00000081913ENST00000262719p.?c.2960+6G>CUnknown
CXXC11ENSG00000188011ENST00000343216p.R518Hc.1553G>ASubstitution - Missense
ENST00000544512p.R593Cc.1777C>TSubstitution - Missense
DGKQENSG00000145214ENST00000273814p.R930Wc.2788C>TSubstitution - Missense
ENST00000381114p.A2622Ac.7866T>GSubstitution - coding silent
KCNMB3ENSG00000171121ENST00000392685p.V227Gc.680T>GSubstitution - Missense
MRPS2ENSG00000122140ENST00000371785p.G24Dc.71G>ASubstitution - Missense
RFX3ENSG00000080298ENST00000449234p.A110Vc.329C>TSubstitution - Missense
USH2AENSG00000042781ENST00000307340p.L4957Lc.14871G>CSubstitution - coding silent
RNF31ENSG00000092098ENST00000324103p.N979Sc.2936A>GSubstitution - Missense
SEC23IPENSG00000107651ENST00000369075p.H970Qc.2910C>GSubstitution - Missense
ECHDC3ENSG00000134463ENST00000379215p.G154Sc.460G>ASubstitution - Missense
ASRGL1ENSG00000162174ENST00000301776p.M193Ic.579G>ASubstitution - Missense
DNA2ENSG00000138346ENST00000358410p.M744Vc.2230A>GSubstitution - Missense
AGAP7ENSG00000204169ENST00000374095p.D515Ec.1545C>GSubstitution - Missense
TTLL13ENSG00000213471ENST00000438251p.T273Mc.818C>TSubstitution - Missense
NBPF14ENSG00000122497ENST00000369219p.A650Vc.1949C>TSubstitution - Missense
NBPF8ENSG00000162825ENST00000369365p.V3625Vc.10875G>CSubstitution - coding silent
HFM1ENSG00000162669ENST00000370425p.P1190Sc.3568C>TSubstitution - Missense
KDM3AENSG00000115548ENST00000409556p.V741Lc.2221G>CSubstitution - Missense
NIF3L1ENSG00000196290ENST00000409020p.W105*c.315G>ASubstitution - Nonsense
NCEH1ENSG00000144959ENST00000538775p.P131Pc.393G>CSubstitution - coding silent
NFYCENSG00000066136ENST00000308733p.R287*c.859C>TSubstitution - Nonsense
EVI5ENSG00000067208ENST00000543509p.?c.772-6A>GUnknown
ENST00000220188p.P248Pc.744C>GSubstitution - coding silent
BRICD5ENSG00000182685ENST00000562360p.R183Cc.547C>TSubstitution - Missense
WWOXENSG00000186153ENST00000566780p.C382Cc.1146C>TSubstitution - coding silent
ENST00000299644p.H224Yc.670C>TSubstitution - Missense
NF1ENSG00000196712ENST00000444181p.E393Qc.1177G>CSubstitution - Missense
XAF1ENSG00000132530ENST00000441631p.Q283*c.847C>TSubstitution - Nonsense
CTNNA2ENSG00000066032ENST00000361291p.T256Tc.768G>TSubstitution - coding silent
NT5DC2ENSG00000168268ENST00000422318p.W272*c.815G>ASubstitution - Nonsense
NFATC4ENSG00000100968ENST00000556279p.G139_G140insAGGc.418_419insCTGGGGGTGInsertion - In frame
NFATC4ENSG00000100968ENST00000555453p.G95_G96insAGGc.286_287insCTGGGGGTGInsertion - In frame
OR8J1ENSG00000172487ENST00000303039p.L27fs*11c.76delCDeletion - Frameshift
TP53ENSG00000141510ENST00000420246p.C275fs*20c.822_853del32Deletion - Frameshift
ENST00000378024_v70p.T204Nc.611C>ASubstitution - Missense
HLA-DQB2ENSG00000232629ENST00000435145p.S206Gc.616A>GSubstitution - Missense
CCDC129ENSG00000180347ENST00000451887p.M821Vc.2461A>GSubstitution - Missense
TEX10ENSG00000136891ENST00000535814p.S664Tc.1990T>ASubstitution - Missense
DECR1ENSG00000104325ENST00000220764p.R14Rc.42G>ASubstitution - coding silent
TRPA1ENSG00000104321ENST00000262209p.F1017Fc.3051C>TSubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000393061p.H656Hc.1968C>TSubstitution - coding silent
LMO7ENSG00000136153ENST00000357063p.I109Vc.325A>GSubstitution - Missense
ARID2ENSG00000189079ENST00000334344p.H531Rc.1592A>GSubstitution - Missense
TVP23AENSG00000166676ENST00000299866p.G167Gc.501C>GSubstitution - coding silent
ENST00000375552_v65p.K124*c.370A>TSubstitution - Nonsense
ENST00000396725_v65p.E240Kc.718G>ASubstitution - Missense
MYOM1ENSG00000101605ENST00000356443p.K146Kc.438G>ASubstitution - coding silent
ENSG00000258472ENST00000531839p.Q10_G15delQHTQQGc.28_45del18Deletion - In frame
SALL1ENSG00000103449ENST00000251020p.G650Gc.1950C>TSubstitution - coding silent
PES1ENSG00000100029ENST00000354694p.A290Pc.868G>CSubstitution - Missense
SEMA6AENSG00000092421ENST00000343348p.D103Nc.307G>ASubstitution - Missense
RTTNENSG00000176225ENST00000255674p.T1239Mc.3716C>TSubstitution - Missense
CARD9ENSG00000187796ENST00000371732p.L118Lc.352C>TSubstitution - coding silent
FUBP3ENSG00000107164ENST00000319725p.G344Gc.1032C>TSubstitution - coding silent
DCCENSG00000187323ENST00000412726p.R604*c.1810C>TSubstitution - Nonsense
NINENSG00000100503ENST00000453196p.E780Ec.2340G>ASubstitution - coding silent
ANKS1BENSG00000185046ENST00000547776p.P401Lc.1202C>TSubstitution - Missense
MRPL49ENSG00000149792ENST00000279242p.T138Tc.414C>GSubstitution - coding silent
RFX7ENSG00000181827ENST00000423270p.P956Pc.2868T>CSubstitution - coding silent
DECR2ENSG00000242612ENST00000219481p.S84Fc.251C>TSubstitution - Missense
LTV1ENSG00000135521ENST00000367576p.R438Cc.1312C>TSubstitution - Missense
FGD5ENSG00000154783ENST00000285046p.N1127Nc.3381C>TSubstitution - coding silent
C6orf99ENSG00000203711ENST00000367073p.R171Cc.511C>TSubstitution - Missense
C6orf201ENSG00000185689ENST00000380175p.T16Tc.48G>ASubstitution - coding silent
CD109ENSG00000156535ENST00000287097p.F1433Fc.4299C>TSubstitution - coding silent
GOLIM4ENSG00000173905ENST00000470487p.D610Nc.1828G>ASubstitution - Missense
KCNH7ENSG00000184611ENST00000332142p.L228Wc.683T>GSubstitution - Missense
NEBENSG00000183091ENST00000409198p.A6318Tc.18952G>ASubstitution - Missense
RAG1ENSG00000166349ENST00000299440p.S601Cc.1802C>GSubstitution - Missense
MAP7D1ENSG00000116871ENST00000373151p.P23Ac.67C>GSubstitution - Missense
SU_KSR2p.P924Pc.2772C>TSubstitution - coding silent
JMJD1CENSG00000171988ENST00000399262p.S1542Rc.4624A>CSubstitution - Missense
UNC5BENSG00000107731ENST00000335350p.R631Cc.1891C>TSubstitution - Missense
KRTAP5-4ENSG00000241598ENST00000399682p.S173Cc.518C>GSubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.L2733Ic.8197C>ASubstitution - Missense
AATKENSG00000181409ENST00000326724p.S868*c.2603C>GSubstitution - Nonsense
SHROOM3ENSG00000138771ENST00000296043p.P1513Lc.4538C>TSubstitution - Missense
ARHGEF38ENSG00000236699ENST00000420470p.K699Kc.2097G>ASubstitution - coding silent
TTI2ENSG00000129696ENST00000360742p.D213Gc.638A>GSubstitution - Missense
GPR149ENSG00000174948ENST00000389740p.L155Lc.465G>ASubstitution - coding silent
MOV10L1ENSG00000073146ENST00000262794p.R162Qc.485G>ASubstitution - Missense
ASRGL1ENSG00000162174ENST00000535727p.M65Ic.195G>ASubstitution - Missense
CYP1A1ENSG00000140465ENST00000395048p.S124Ic.371G>TSubstitution - Missense
ENST00000340134_v70p.?c.1delAUnknown
PHF3ENSG00000118482ENST00000262043p.G860Gc.2580A>TSubstitution - coding silent
PKHD1L1ENSG00000205038ENST00000378402p.T4091Pc.12271A>CSubstitution - Missense
DSPENSG00000096696ENST00000379802p.?c.1_2insAUnknown
RIMS1ENSG00000079841ENST00000521978p.?c.2545-1G>TUnknown
ZNF462ENSG00000148143ENST00000277225p.N290Sc.869A>GSubstitution - Missense
ZNF462ENSG00000148143ENST00000457913p.N290Sc.869A>GSubstitution - Missense
TEX10ENSG00000136891ENST00000374902p.S661Tc.1981T>ASubstitution - Missense
KIAA0368ENSG00000136813ENST00000338205p.?c.1delAUnknown
RSPO3ENSG00000146374ENST00000356698p.S79Lc.236C>TSubstitution - Missense
RSPO3ENSG00000146374ENST00000368317p.S79Lc.236C>TSubstitution - Missense
NF1ENSG00000196712ENST00000358273p.E2600Qc.7798G>CSubstitution - Missense
NF1ENSG00000196712ENST00000358273p.E2600Qc.7798G>CSubstitution - Missense
ZNF566ENSG00000186017ENST00000434377p.I94Tc.281T>CSubstitution - Missense
ZBTB32ENSG00000011590ENST00000392197p.P235Qc.704C>ASubstitution - Missense
KCNMB3ENSG00000171121ENST00000349697p.V229Gc.686T>GSubstitution - Missense
FNDC3BENSG00000075420ENST00000336824p.N518Sc.1553A>GSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.V871Vc.2613G>ASubstitution - coding silent
PLEKHG2ENSG00000090924ENST00000409794p.V1016Ic.3046G>ASubstitution - Missense
NM_022835.1p.V974Ic.2920G>ASubstitution - Missense
PLEKHG2ENSG00000090924ENST00000458508p.V957Ic.2869G>ASubstitution - Missense
EEPD1ENSG00000122547ENST00000242108p.R258Rc.774G>ASubstitution - coding silent
PCDHB11ENSG00000197479ENST00000354757p.I185Nc.554T>ASubstitution - Missense
PCDHB11ENSG00000197479ENST00000354757p.P192Pc.576C>TSubstitution - coding silent
ZKSCAN4ENSG00000187626ENST00000377294p.L363Fc.1087C>TSubstitution - Missense
CCHCR1ENSG00000204536ENST00000396268p.?c.965+10C>TUnknown
MCM7ENSG00000166508ENST00000303887p.I327Tc.980T>CSubstitution - Missense
MCM7ENSG00000166508ENST00000354230p.I151Tc.452T>CSubstitution - Missense
ZNF479ENSG00000185177ENST00000331162p.G56Vc.167G>TSubstitution - Missense
VWA3AENSG00000175267ENST00000389398p.S1067Rc.3201C>ASubstitution - Missense
JMJD8ENSG00000161999ENST00000293882p.Y204Yc.612C>TSubstitution - coding silent
ABCA3ENSG00000167972ENST00000301732p.I1491Ic.4473C>TSubstitution - coding silent
NPIPB5ENSG00000243716ENST00000424340p.P460fs*12c.1377_1563>17Unknown
NPIPB5ENSG00000243716ENST00000424340p.P460fs*12c.1377_1563>17Unknown
EMR2ENSG00000127507ENST00000315576p.?c.200-5T>CUnknown
ERFENSG00000105722ENST00000222329p.G515Gc.1545G>ASubstitution - coding silent
CHD6ENSG00000124177ENST00000373233p.E1249Qc.3745G>CSubstitution - Missense
NEBENSG00000183091ENST00000427231p.A8174Tc.24520G>ASubstitution - Missense
GPD2ENSG00000115159ENST00000310454p.R100Rc.300A>GSubstitution - coding silent
AASDHENSG00000157426ENST00000205214p.G967Ec.2900G>ASubstitution - Missense
TSPAN13ENSG00000106537ENST00000262067p.G47Gc.141C>ASubstitution - coding silent
PAXIP1ENSG00000157212ENST00000404141p.V920Vc.2760C>TSubstitution - coding silent
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
CCDC116ENSG00000161180ENST00000292779p.A395Dc.1184C>ASubstitution - Missense
KCNH7ENSG00000184611ENST00000328032p.L228Wc.683T>GSubstitution - Missense
PARLENSG00000175193ENST00000317096p.R167Qc.500G>ASubstitution - Missense
ATP13A5ENSG00000187527ENST00000342358p.G780Rc.2338G>ASubstitution - Missense
ATP13A5ENSG00000187527ENST00000342358p.I537Nc.1610T>ASubstitution - Missense
MASP1ENSG00000127241ENST00000296280p.S109Cc.326C>GSubstitution - Missense
MASP1ENSG00000127241ENST00000337774p.S109Cc.326C>GSubstitution - Missense
AADATENSG00000109576ENST00000337664p.F387Fc.1161C>TSubstitution - coding silent
NSD1ENSG00000165671ENST00000439151p.?c.4766-2A>TUnknown
NSD1ENSG00000165671ENST00000439151p.?c.4766-2A>TUnknown
NSD1ENSG00000165671ENST00000439151p.G1656Cc.4966G>TSubstitution - Missense
GHRENSG00000112964ENST00000230882p.?c.784+6A>GUnknown
N4BP3ENSG00000145911ENST00000274605p.R105Qc.314G>ASubstitution - Missense
KIAA0947ENSG00000164151ENST00000296564p.L1842Lc.5526G>ASubstitution - coding silent
KIAA0947ENSG00000164151ENST00000296564p.G750Ac.2249G>CSubstitution - Missense
HLA-DQB2ENSG00000232629ENST00000411527p.S206Gc.616A>GSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.V980Vc.2940G>ASubstitution - coding silent
KSR2ENSG00000171435ENST00000339824p.P892Pc.2676C>TSubstitution - coding silent
ITGA7ENSG00000135424ENST00000452168p.V731Lc.2191G>TSubstitution - Missense
EXOSC10ENSG00000171824ENST00000544779p.E284Kc.850G>ASubstitution - Missense
USH2AENSG00000042781ENST00000366943p.L4957Lc.14871G>CSubstitution - coding silent
DOCK7ENSG00000116641ENST00000251157p.R1266Qc.3797G>ASubstitution - Missense
STRA13ENSG00000169689ENST00000392359p.M38delMc.112_114delATGDeletion - In frame
CHST9ENSG00000154080ENST00000284224p.K59Rc.176A>GSubstitution - Missense
KEAP1ENSG00000079999ENST00000393623p.V176Vc.528G>ASubstitution - coding silent
SBNO2ENSG00000064932ENST00000361757p.A860Vc.2579C>TSubstitution - Missense
ENST00000250872p.A867Vc.2600C>TSubstitution - Missense
AFPENSG00000081051ENST00000395792p.V433Ic.1297G>ASubstitution - Missense
CIAPIN1ENSG00000005194ENST00000394391p.K26Ic.77A>TSubstitution - Missense
MED1ENSG00000125686ENST00000300651p.S979Rc.2937T>GSubstitution - Missense
URB1ENSG00000142207ENST00000382751p.P1487Pc.4461G>ASubstitution - coding silent
FAM65BENSG00000111913ENST00000259698p.R390Pc.1169G>CSubstitution - Missense
PREX2ENSG00000046889ENST00000288368p.P471Pc.1413A>CSubstitution - coding silent
NM_007332.1p.F1017Fc.3051C>TSubstitution - coding silent
WDR7ENSG00000091157ENST00000254442p.T261Sc.781A>TSubstitution - Missense
DCCENSG00000187323ENST00000442544p.R756*c.2266C>TSubstitution - Nonsense
SERPINB13ENSG00000197641ENST00000344731p.L163Lc.489G>ASubstitution - coding silent
ENST00000262719_v68p.?c.2960+6G>CUnknown
PHLPP1ENSG00000081913ENST00000400316p.?c.1421+6G>CUnknown
MC2RENSG00000185231ENST00000399821p.T159Tc.477G>ASubstitution - coding silent
RIMBP3ENSG00000196622ENST00000426804p.R1096Hc.3287G>ASubstitution - Missense
TYW5ENSG00000162971ENST00000354611p.V46Vc.138G>ASubstitution - coding silent
PUM2ENSG00000055917ENST00000338086p.P1055Lc.3164C>TSubstitution - Missense
ASXL2ENSG00000143970ENST00000435504p.G1057Rc.3169G>CSubstitution - Missense
ZNF646ENSG00000167395ENST00000300850p.P1109Lc.3326C>TSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.L4004Lc.12010C>TSubstitution - coding silent
ENST00000405167p.G3900Dc.11699G>ASubstitution - Missense
SSX1ENSG00000126752ENST00000376919p.P116Rc.347C>GSubstitution - Missense
XAF1ENSG00000132530ENST00000361842p.Q283*c.847C>TSubstitution - Nonsense
TMEM256-PLSCR3ENSG00000187838ENST00000324822p.G117Sc.349G>ASubstitution - Missense
CCDC138ENSG00000163006ENST00000295124p.R170Rc.510G>CSubstitution - coding silent
TRAK1ENSG00000182606ENST00000396175p.R706Qc.2117G>ASubstitution - Missense
ENST00000543338p.R743Qc.2228G>ASubstitution - Missense
CDH11ENSG00000140937ENST00000394156p.E644Dc.1932A>CSubstitution - Missense
CCDC112ENSG00000164221ENST00000379611p.R156Ic.467G>TSubstitution - Missense
E2F4ENSG00000205250ENST00000379378p.L154Lc.462C>TSubstitution - coding silent
ZNF638ENSG00000075292ENST00000264447p.R487Cc.1459C>TSubstitution - Missense
MPHOSPH10ENSG00000124383ENST00000244230p.I371Fc.1111A>TSubstitution - Missense
CTNNA2ENSG00000066032ENST00000466387p.T222Tc.666G>TSubstitution - coding silent
NM_004389.1p.T222Tc.666G>TSubstitution - coding silent
IGSF10ENSG00000152580ENST00000282466p.T1314Ac.3940A>GSubstitution - Missense
FAT4ENSG00000196159ENST00000394329p.V1334Mc.4000G>ASubstitution - Missense
ENST00000330166p.V1334Mc.4000G>ASubstitution - Missense
PCDH10ENSG00000138650ENST00000264360p.S408Sc.1224C>TSubstitution - coding silent
PDZD2ENSG00000133401ENST00000282493p.H2060Yc.6178C>TSubstitution - Missense
SASH1ENSG00000111961ENST00000367467p.D47Ec.141C>GSubstitution - Missense
FNDC1ENSG00000164694ENST00000297267p.P666Sc.1996C>TSubstitution - Missense
ENST00000381114p.A2622Ac.7866T>GSubstitution - coding silent
GLB1LENSG00000163521ENST00000295759p.V443Vc.1329G>CSubstitution - coding silent
SP140LENSG00000185404ENST00000415673p.?c.785-4T>CUnknown
SP140LENSG00000185404ENST00000444636p.?c.785-4T>CUnknown
SPTBN1ENSG00000115306ENST00000356805p.?c.5203-8C>TUnknown
HMCESENSG00000183624ENST00000389735p.P304Sc.910C>TSubstitution - Missense
PLIN5ENSG00000214456ENST00000381848p.R134Rc.402G>CSubstitution - coding silent
ZNF708ENSG00000182141ENST00000356929p.K299Nc.897G>CSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.S3595Lc.10784C>TSubstitution - Missense
SLCO2A1ENSG00000174640ENST00000310926p.R561Cc.1681C>TSubstitution - Missense
NM_001184p.R1051Hc.3152G>ASubstitution - Missense
NM_001009555.2p.V548Vc.1644G>TSubstitution - coding silent
TBC1D9ENSG00000109436ENST00000442267p.L652Qc.1955T>ASubstitution - Missense
MFSD10ENSG00000109736ENST00000355443p.L106Lc.318C>TSubstitution - coding silent
SLC34A2ENSG00000157765ENST00000382051p.S438Lc.1313C>TSubstitution - Missense
SPOCK1ENSG00000152377ENST00000394945p.A123Sc.367G>TSubstitution - Missense
SOGA2ENSG00000168502ENST00000359865p.?c.4722+3A>GUnknown
EP300ENSG00000100393ENST00000263253p.T1868Tc.5604G>ASubstitution - coding silent
DDOENSG00000203797ENST00000368924p.H82Nc.244C>ASubstitution - Missense
MLXIPENSG00000175727ENST00000319080p.P425Pc.1275G>ASubstitution - coding silent
CLCN6ENSG00000011021ENST00000346436p.N642Nc.1926C>TSubstitution - coding silent
SPTBN5ENSG00000137877ENST00000320955p.?c.217-5C>AUnknown
SHFENSG00000138606ENST00000290894p.K77Qc.229A>CSubstitution - Missense
PDIA3ENSG00000167004ENST00000300289p.Y182Yc.546C>TSubstitution - coding silent
NINENSG00000100503ENST00000382041p.E780Ec.2340G>ASubstitution - coding silent
NINENSG00000100503ENST00000382041p.E780Ec.2340G>ASubstitution - coding silent
NINENSG00000100503ENST00000245441p.T22Mc.65C>TSubstitution - Missense
FLG2ENSG00000143520ENST00000388718p.G506*c.1516G>TSubstitution - Nonsense
FLGENSG00000143631ENST00000368799p.Q1210Hc.3630G>TSubstitution - Missense
KAZNENSG00000189337ENST00000361144p.L287Ic.859C>ASubstitution - Missense
KAZNENSG00000189337ENST00000376030p.L293Ic.877C>ASubstitution - Missense
ENST00000313929p.Q182fs*6c.543_544insTAInsertion - Frameshift
UBE2TENSG00000077152ENST00000367274p.G40Vc.119G>TSubstitution - Missense
PIK3C2BENSG00000133056ENST00000367187p.A732Vc.2195C>TSubstitution - Missense
RFX7ENSG00000181827ENST00000317318p.P859Pc.2577T>CSubstitution - coding silent
RFX7ENSG00000181827ENST00000317318p.T858Tc.2574T>ASubstitution - coding silent
CCDC83ENSG00000150676ENST00000280245p.?c.1009_1173+395>AAUnknown
DNAH10ENSG00000197653ENST00000409039p.H2739Rc.8216A>GSubstitution - Missense
ENST00000280576p.H1331Rc.3992A>GSubstitution - Missense
LOH12CR1ENSG00000165714ENST00000314565p.M132Tc.395T>CSubstitution - Missense
ENST00000369365_v71p.V3625Vc.10875G>CSubstitution - coding silent
ENST00000369365_v70p.V3625Vc.10875G>CSubstitution - coding silent
ENST00000369365_v68p.V3625Vc.10875G>CSubstitution - coding silent
NBPF9ENSG00000168614ENST00000440491p.K125Mc.374A>TSubstitution - Missense
PRAMEF10ENSG00000187545ENST00000235347p.R132Rc.396G>ASubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313431p.I303Fc.907A>TSubstitution - Missense
DOCK7ENSG00000116641ENST00000340370p.R1235Qc.3704G>ASubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.G4587Dc.13760G>ASubstitution - Missense
XM_170754.4p.V374Ac.1121T>CSubstitution - Missense
FAM181AENSG00000140067ENST00000267594p.A79Ac.237G>ASubstitution - coding silent
OTUB2ENSG00000089723ENST00000203664p.T173Tc.519G>ASubstitution - coding silent
SMAD3ENSG00000166949ENST00000327367p.L153Lc.457C>TSubstitution - coding silent
EVI5ENSG00000067208ENST00000370331p.?c.772-6A>GUnknown
BRDTENSG00000137948ENST00000362005p.K751Rc.2252A>GSubstitution - Missense
PLCB2ENSG00000137841ENST00000260402p.L816Lc.2448C>TSubstitution - coding silent
PLCB2ENSG00000137841ENST00000260402p.L816Lc.2448C>TSubstitution - coding silent
NIPBLENSG00000164190ENST00000448238p.K565Ec.1693A>GSubstitution - Missense
TTLL6ENSG00000170703ENST00000433608p.P106Lc.317C>TSubstitution - Missense
ENST00000305326p.P91Lc.272C>TSubstitution - Missense
NFE2L1ENSG00000082641ENST00000362042p.L83Lc.249C>TSubstitution - coding silent
ENST00000246101p.K38Kc.114G>ASubstitution - coding silent
FAM171BENSG00000144369ENST00000304698p.G383Dc.1148G>ASubstitution - Missense
TRPC5ENSG00000072315ENST00000262839p.?c.1897-9C>AUnknown
WDR81ENSG00000167716ENST00000309182p.D24Nc.70G>ASubstitution - Missense
MYO15AENSG00000091536ENST00000205890p.?c.4780-9A>CUnknown
FLCNENSG00000154803ENST00000389169p.A64Vc.191C>TSubstitution - Missense
FLCNENSG00000154803ENST00000285071p.A64Vc.191C>TSubstitution - Missense
EVPLENSG00000167880ENST00000301607p.S1813Cc.5438C>GSubstitution - Missense
IZUMO2ENSG00000161652ENST00000293405p.F202Fc.606C>TSubstitution - coding silent
MYBPC2ENSG00000086967ENST00000357701p.R677Qc.2030G>ASubstitution - Missense
RFX3ENSG00000080298ENST00000382004p.A645Vc.1934C>TSubstitution - Missense
LRGUKENSG00000155530ENST00000285928p.H796Qc.2388C>GSubstitution - Missense
DNAH12ENSG00000174844ENST00000351747p.P521Hc.1562C>ASubstitution - Missense
ERC2ENSG00000187672ENST00000288221p.N326Sc.977A>GSubstitution - Missense
LMOD3ENSG00000163380ENST00000420581p.E151Dc.453A>TSubstitution - Missense
LMOD3ENSG00000163380ENST00000420581p.E151Dc.453A>TSubstitution - Missense
INTS10ENSG00000104613ENST00000397977p.L569Vc.1705T>GSubstitution - Missense
MRC2ENSG00000011028ENST00000303375p.?c.1570-7G>CUnknown
CACNG5ENSG00000075429ENST00000533854p.G176Rc.526G>ASubstitution - Missense
ENSG00000167524ENST00000301037p.Q10_G15delQHTQQGc.28_45del18Deletion - In frame
ENST00000531839_v68p.Q10_G15delQHTQQGc.28_45del18Deletion - In frame
NOTUMENSG00000185269ENST00000409678p.?c.1136+68_1184+182>CCUnknown
ENST00000330917p.?c.938+68_986+182>CCUnknown
CHMP6ENSG00000176108ENST00000325167p.A195Vc.584C>TSubstitution - Missense
TMC2ENSG00000149488ENST00000358864p.R684Cc.2050C>TSubstitution - Missense
OR13C3ENSG00000204246ENST00000374781p.R265Hc.794G>ASubstitution - Missense
PCDHB3ENSG00000113205ENST00000231130p.D187Dc.561C>TSubstitution - coding silent
OR2M2ENSG00000198601ENST00000359682p.V78Ic.232G>ASubstitution - Missense
SERPINB11ENSG00000206072ENST00000544088p.T114Mc.341C>TSubstitution - Missense
TGM6ENSG00000166948ENST00000202625p.V99Ic.295G>ASubstitution - Missense
BRICD5ENSG00000182685ENST00000328540p.R183Cc.547C>TSubstitution - Missense
SULT1A1ENSG00000196502ENST00000314752p.A281Ac.843G>ASubstitution - coding silent
ATP1A2ENSG00000018625ENST00000361216p.A361Ac.1083G>ASubstitution - coding silent
ENST00000361743p.E117_D118insEc.333_334insGAGInsertion - In frame
USH2AENSG00000042781ENST00000307340p.D510Dc.1530C>TSubstitution - coding silent
ITGA7ENSG00000135424ENST00000553804p.V828Lc.2482G>TSubstitution - Missense
ITGA7ENSG00000135424ENST00000257879p.V824Lc.2470G>TSubstitution - Missense
KIAA0226LENSG00000102445ENST00000322896p.A85Vc.254C>TSubstitution - Missense
SART3ENSG00000075856ENST00000228284p.R41Wc.121C>TSubstitution - Missense
PIBF1ENSG00000083535ENST00000326291p.R186Cc.556C>TSubstitution - Missense
OAS1ENSG00000089127ENST00000445409p.N6Nc.18T>CSubstitution - coding silent
OAS1ENSG00000089127ENST00000202917p.N6Nc.18T>CSubstitution - coding silent
USP48ENSG00000090686ENST00000308271p.R754Wc.2260C>TSubstitution - Missense
DNAH14ENSG00000185842ENST00000430092p.M1247Ic.3741G>ASubstitution - Missense
PAPSS2ENSG00000198682ENST00000361175p.P482Pc.1446G>ASubstitution - coding silent
HOGA1ENSG00000241935ENST00000370646p.S110Sc.330C>TSubstitution - coding silent
PRDM10ENSG00000170325ENST00000360871p.V961Ac.2882T>CSubstitution - Missense
CEP290ENSG00000198707ENST00000552810p.K172Qc.514A>CSubstitution - Missense
LGALS8ENSG00000116977ENST00000527974p.E133Qc.397G>CSubstitution - Missense
CHRNA5ENSG00000169684ENST00000299565p.G464Ec.1391G>ASubstitution - Missense
SLC28A1ENSG00000156222ENST00000286749p.K562Nc.1686G>CSubstitution - Missense
SLC28A1ENSG00000156222ENST00000537624p.K562Nc.1686G>CSubstitution - Missense
STK32CENSG00000165752ENST00000368625p.R259Wc.775C>TSubstitution - Missense
C14orf79ENSG00000140104ENST00000547315p.D323Nc.967G>ASubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.D3247Gc.9740A>GSubstitution - Missense
MYH6ENSG00000197616ENST00000356287p.R1562Wc.4684C>TSubstitution - Missense
NFATC4ENSG00000100968ENST00000413692p.G170_G171insAGGc.511_512insCTGGGGGTGInsertion - In frame
NFATC4ENSG00000100968ENST00000250373p.G107_G108insAGGc.322_323insCTGGGGGTGInsertion - In frame
OR56B4ENSG00000180919ENST00000316529p.L283Lc.849G>CSubstitution - coding silent
CD5ENSG00000110448ENST00000347785p.T421Tc.1263G>ASubstitution - coding silent
MS4A5ENSG00000166930ENST00000300190p.E17Dc.51A>CSubstitution - Missense
AHNAKENSG00000124942ENST00000378024p.T204Nc.611C>ASubstitution - Missense
OR2D2ENSG00000166368ENST00000299459p.A113Tc.337G>ASubstitution - Missense
CABP2ENSG00000167791ENST00000294288p.?c.380-5C>AUnknown
SFXN2ENSG00000156398ENST00000369893p.T112Mc.335C>TSubstitution - Missense
ENST00000336486p.D251Dc.753C>TSubstitution - coding silent
WDR96ENSG00000197748ENST00000357060p.M1375Tc.4124T>CSubstitution - Missense
LAMC1ENSG00000135862ENST00000258341p.R1023Qc.3068G>ASubstitution - Missense
LEPREL2ENSG00000110811ENST00000396725p.E56Kc.166G>ASubstitution - Missense
C1SENSG00000182326ENST00000328916p.T553Tc.1659C>TSubstitution - coding silent
PTPRBENSG00000127329ENST00000334414p.R692Hc.2075G>ASubstitution - Missense
PTPRBENSG00000127329ENST00000261266p.R474Hc.1421G>ASubstitution - Missense
NM_002837.2p.R474Hc.1421G>ASubstitution - Missense
RBM7ENSG00000076053ENST00000540163p.G158Rc.472G>ASubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.T2021Ic.6062C>TSubstitution - Missense
NELL1ENSG00000165973ENST00000357134p.T259Kc.776C>ASubstitution - Missense
KCNT2ENSG00000162687ENST00000367431p.?c.2689-8C>TUnknown
KNOP1ENSG00000103550ENST00000219837p.R240Rc.720G>ASubstitution - coding silent
SPAG6ENSG00000077327ENST00000376624p.S189Sc.567G>ASubstitution - coding silent
DNAL1ENSG00000119661ENST00000553645p.A12Vc.35C>TSubstitution - Missense
PCNXENSG00000100731ENST00000304743p.N2080Hc.6238A>CSubstitution - Missense
JMJD1CENSG00000171988ENST00000402544p.S1323Rc.3967A>CSubstitution - Missense
DNA2ENSG00000138346ENST00000399180p.V911Mc.2731G>ASubstitution - Missense
OIT3ENSG00000138315ENST00000334011p.P71Pc.213T>ASubstitution - coding silent
VPS51ENSG00000149823ENST00000279281p.?c.1444-10T>CUnknown
NFYCENSG00000066136ENST00000425457p.R287*c.859C>TSubstitution - Nonsense
NT5C1AENSG00000116981ENST00000235628p.R356Rc.1068G>CSubstitution - coding silent


COSMIC

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