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CGTH-W-1 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

543 mutations reported
198 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
SHANK2ENSG00000162105ENST00000294018p.K640Tc.1919A>CSubstitution - Missense
RPS6KB2ENSG00000175634ENST00000312629p.G231Sc.691G>ASubstitution - Missense
ENST00000268134p.V1342Ic.4024G>ASubstitution - Missense
C12orf60ENSG00000182993ENST00000330828p.T120Tc.360G>ASubstitution - coding silent
ENST00000344698_v71p.I186Ic.558C>ASubstitution - coding silent
ENST00000327087_v68p.M680Ic.2040G>ASubstitution - Missense
ANO2ENSG00000047617ENST00000546188p.M681Ic.2043G>ASubstitution - Missense
ANO2ENSG00000047617ENST00000327087p.M680Ic.2040G>ASubstitution - Missense
ACCSENSG00000110455ENST00000263776p.E428Dc.1284A>TSubstitution - Missense
OR10G8ENSG00000234560ENST00000431524p.G88Dc.263G>ASubstitution - Missense
TLL2ENSG00000095587ENST00000357947p.?c.817+1G>AUnknown
SFTPDENSG00000133661ENST00000372292p.A188Ac.564C>TSubstitution - coding silent
POLR3AENSG00000148606ENST00000372371p.C960Rc.2878T>CSubstitution - Missense
ZSWIM8ENSG00000214655ENST00000398706p.S1191Sc.3573T>CSubstitution - coding silent
ENST00000412131p.S1186Sc.3558T>CSubstitution - coding silent
ZSWIM8ENSG00000214655ENST00000398706p.S571Sc.1713T>CSubstitution - coding silent
MIA3ENSG00000154305ENST00000344922p.?c.3332-4C>TUnknown
SLITRK6ENSG00000184564ENST00000400286p.E234Ac.701A>CSubstitution - Missense
SETDB2ENSG00000136169ENST00000317257p.K632Ec.1894A>GSubstitution - Missense
PFKFB2ENSG00000123836ENST00000367080p.E97Gc.290A>GSubstitution - Missense
CAPN3ENSG00000092529ENST00000397163p.V590Mc.1768G>ASubstitution - Missense
LINGO2ENSG00000174482ENST00000379992p.L261Mc.781C>ASubstitution - Missense
CXCR2ENSG00000180871ENST00000318507p.I331Mc.993A>GSubstitution - Missense
CAPN3ENSG00000092529ENST00000356316p.V503Mc.1507G>ASubstitution - Missense
PRRG3ENSG00000130032ENST00000538575p.S74Sc.222G>ASubstitution - coding silent
CARSENSG00000110619ENST00000380525p.A241Tc.721G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.I255Sc.764T>GSubstitution - Missense
MYO7BENSG00000169994ENST00000428314p.V909Ic.2725G>ASubstitution - Missense
ENST00000272666p.V909Ic.2725G>ASubstitution - Missense
WHSC1ENSG00000109685ENST00000382891p.E1099Kc.3295G>ASubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.S2421Sc.7263G>ASubstitution - coding silent
TNS1ENSG00000079308ENST00000171887p.G307Ec.920G>ASubstitution - Missense
TNS1ENSG00000079308ENST00000446903p.G432Ec.1295G>ASubstitution - Missense
ERBB4ENSG00000178568ENST00000342788p.G1049Ec.3146G>ASubstitution - Missense
ERBB4ENSG00000178568ENST00000402597p.G1039Ec.3116G>ASubstitution - Missense
SSFA2ENSG00000138434ENST00000320370p.G390Ec.1169G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S4235Fc.12704C>TSubstitution - Missense
ZNF699ENSG00000196110ENST00000308650p.T436Rc.1307C>GSubstitution - Missense
CNTNAP4ENSG00000152910ENST00000478060p.I997fs*13c.2990delTDeletion - Frameshift
CNTNAP4ENSG00000152910ENST00000307431p.I1069fs*13c.3206delTDeletion - Frameshift
NARFLENSG00000103245ENST00000251588p.L251Lc.751C>TSubstitution - coding silent
ATP12AENSG00000075673ENST00000381946p.I1025Ic.3075C>ASubstitution - coding silent
TNFSF13BENSG00000102524ENST00000375887p.K216Tc.647A>CSubstitution - Missense
ENSG00000117600ENST00000370185p.S149Tc.445T>ASubstitution - Missense
ABCA4ENSG00000198691ENST00000370225p.V1737Mc.5209G>ASubstitution - Missense
LRRC49ENSG00000137821ENST00000260382p.?c.500+3A>GUnknown
SERPINA9ENSG00000170054ENST00000337425p.M99Ic.297G>ASubstitution - Missense
NM_175739.2p.M99Ic.297G>ASubstitution - Missense
CATSPERBENSG00000133962ENST00000256343p.M227Kc.680T>ASubstitution - Missense
ZBTB1ENSG00000126804ENST00000394712p.P4Pc.12C>TSubstitution - coding silent
SPTBENSG00000070182ENST00000389722p.G597Gc.1791G>ASubstitution - coding silent
SPTBENSG00000070182ENST00000542895p.G597Gc.1791G>ASubstitution - coding silent
FAM73AENSG00000180488ENST00000370791p.?c.1564-1G>AUnknown
SEPN1ENSG00000162430ENST00000361547p.?c.404-6T>GUnknown
TMEM132BENSG00000139364ENST00000299308p.D525Ec.1575C>ASubstitution - Missense
SLTMENSG00000137776ENST00000380516p.I247Vc.739A>GSubstitution - Missense
TEX9ENSG00000151575ENST00000352903p.S26Cc.77C>GSubstitution - Missense
SYT10ENSG00000110975ENST00000228567p.A392Vc.1175C>TSubstitution - Missense
CYFIP1ENSG00000068793ENST00000435939p.H593Yc.1777C>TSubstitution - Missense
DUOX1ENSG00000137857ENST00000389037p.G1314Vc.3941G>TSubstitution - Missense
TGM7ENSG00000159495ENST00000452443p.V83Ac.248T>CSubstitution - Missense
CLCN6ENSG00000011021ENST00000346436p.D333Gc.998A>GSubstitution - Missense
HSD3B2ENSG00000203859ENST00000369416p.?c.308-9C>TUnknown
ADAM30ENSG00000134249ENST00000369400p.S224Cc.671C>GSubstitution - Missense
CSDE1ENSG00000009307ENST00000369530p.P461Ac.1381C>GSubstitution - Missense
CD101ENSG00000134256ENST00000369470p.Q223Hc.669G>TSubstitution - Missense
RITA1ENSG00000139405ENST00000549621p.G232Ec.695G>ASubstitution - Missense
SUPV3L1ENSG00000156502ENST00000359655p.G54Ac.161G>CSubstitution - Missense
PGBD3ENSG00000243251ENST00000374127p.A62Ac.186G>ASubstitution - coding silent
CHATENSG00000070748ENST00000337653p.V438Vc.1314G>ASubstitution - coding silent
CHATENSG00000070748ENST00000395562p.V356Vc.1068G>ASubstitution - coding silent
ENSG00000175604ENST00000312019p.G33Rc.97G>ASubstitution - Missense
FCF1ENSG00000119616ENST00000341162p.?c.3+10G>AUnknown
FAM171A1ENSG00000148468ENST00000378116p.R151Sc.453A>CSubstitution - Missense
KCNT2ENSG00000162687ENST00000294725p.V268Ac.803T>CSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.?c.8787+4A>GUnknown
DDX20ENSG00000064703ENST00000369702p.V506Vc.1518C>GSubstitution - coding silent
CARSENSG00000110619ENST00000397114p.A148Tc.442G>ASubstitution - Missense
ENST00000282251_v68p.K892Ec.2674A>GSubstitution - Missense
NLRX1ENSG00000160703ENST00000292199p.A496Tc.1486G>ASubstitution - Missense
MFRPENSG00000235718ENST00000555262p.P32Qc.95C>ASubstitution - Missense
BACE1ENSG00000186318ENST00000313005p.R412Qc.1235G>ASubstitution - Missense
USP28ENSG00000048028ENST00000003302p.L58Fc.172C>TSubstitution - Missense
TPI1ENSG00000111669ENST00000229270p.?c.226_227-2del1182Unknown
TPI1ENSG00000111669ENST00000396705p.?c.115_116-2del1182Unknown
GLULENSG00000135821ENST00000339526p.I33Mc.99C>GSubstitution - Missense
NUCB2ENSG00000070081ENST00000529010p.K206Nc.618A>CSubstitution - Missense
KCNJ11ENSG00000187486ENST00000339994p.L359Pc.1076T>CSubstitution - Missense
SPENENSG00000065526ENST00000375759p.S1390Sc.4170C>GSubstitution - coding silent
PLEKHM2ENSG00000116786ENST00000375799p.E107Ec.321G>ASubstitution - coding silent
LY9ENSG00000122224ENST00000368041p.D125Yc.373G>TSubstitution - Missense
LY9ENSG00000122224ENST00000368039p.D125Yc.373G>TSubstitution - Missense
WDR96ENSG00000197748ENST00000357060p.R665Pc.1994G>CSubstitution - Missense
C10orf118ENSG00000165813ENST00000369287p.K201Tc.602A>CSubstitution - Missense
RGS7ENSG00000182901ENST00000366565p.R109Qc.326G>ASubstitution - Missense
ENST00000405167p.T2683Sc.8047A>TSubstitution - Missense
ENST00000344886p.A184Ac.552G>ASubstitution - coding silent
FAM179AENSG00000189350ENST00000379558p.A886Ac.2658G>ASubstitution - coding silent
NPBWR2ENSG00000125522ENST00000369768p.T78Tc.234G>ASubstitution - coding silent
TMC4ENSG00000167608ENST00000301187p.V323Ac.968T>CSubstitution - Missense
LILRA3ENSG00000170866ENST00000251390p.R263Hc.788G>ASubstitution - Missense
ZNF616ENSG00000204611ENST00000330123p.R336Qc.1007G>ASubstitution - Missense
PIRTENSG00000233670ENST00000580256p.L89Lc.267C>GSubstitution - coding silent
IRF8ENSG00000140968ENST00000268638p.?c.359-6C>TUnknown
DPPA4ENSG00000121570ENST00000335658p.V192Gc.575T>GSubstitution - Missense
KIAA1524ENSG00000163507ENST00000295746p.Y190Sc.569A>CSubstitution - Missense
DPPA4ENSG00000121570ENST00000335658p.V194Vc.582G>ASubstitution - coding silent
VWA3BENSG00000168658ENST00000477737p.L865Fc.2595G>TSubstitution - Missense
ADCY3ENSG00000138031ENST00000260600p.L670Lc.2008C>TSubstitution - coding silent
ASB1ENSG00000065802ENST00000264607p.P78Rc.233C>GSubstitution - Missense
ALS2CR11ENSG00000155754ENST00000439140p.P920Qc.2759C>ASubstitution - Missense
SATB2ENSG00000119042ENST00000417098p.I555Vc.1663A>GSubstitution - Missense
NFE2L2ENSG00000116044ENST00000397062p.D77Yc.229G>TSubstitution - Missense
DIP2AENSG00000160305ENST00000417564p.S1139Sc.3417C>TSubstitution - coding silent
DIP2AENSG00000160305ENST00000427143p.S1075Sc.3225C>TSubstitution - coding silent
DIP2AENSG00000160305ENST00000417564p.S1139Sc.3417C>TSubstitution - coding silent
CECR2ENSG00000099954ENST00000400585p.G1150Rc.3448G>CSubstitution - Missense
PHLPP1ENSG00000081913ENST00000400316p.L442Lc.1326G>TSubstitution - coding silent
PHLPP1ENSG00000081913ENST00000262719p.L955Lc.2865G>TSubstitution - coding silent
SHFM1ENSG00000127922ENST00000417009p.E3*c.7G>TSubstitution - Nonsense
PPP1R9AENSG00000158528ENST00000433360p.?c.3125-9A>TUnknown
SHFM1ENSG00000127922ENST00000413065p.E3*c.7G>TSubstitution - Nonsense
TMEM213ENSG00000214128ENST00000442682p.?c.154+9C>TUnknown
KIAA0319ENSG00000137261ENST00000378214p.V247Vc.741G>ASubstitution - coding silent
RRP9ENSG00000114767ENST00000232888p.G34Gc.102G>ASubstitution - coding silent
DOCK3ENSG00000088538ENST00000266037p.G878Gc.2634G>TSubstitution - coding silent
DTHD1ENSG00000197057ENST00000456874p.S265*c.794C>ASubstitution - Nonsense
RPL19ENSG00000108298ENST00000225430p.R70Cc.208C>TSubstitution - Missense
USO1ENSG00000138768ENST00000538159p.R669Gc.2005C>GSubstitution - Missense
EPHA3ENSG00000044524ENST00000336596p.S906fs*38c.2714delADeletion - Frameshift
ENST00000420871_v68p.D149Dc.447C>TSubstitution - coding silent
ANKRD36CENSG00000174501ENST00000420871p.D149Dc.447C>TSubstitution - coding silent
ANKRD36CENSG00000174501ENST00000295246p.D319Dc.957C>TSubstitution - coding silent
SNRNP200ENSG00000144028ENST00000323853p.H1179Nc.3535C>ASubstitution - Missense
NCAPHENSG00000121152ENST00000240423p.E624Qc.1870G>CSubstitution - Missense
ITGB2ENSG00000160255ENST00000397852p.F411Yc.1232T>ASubstitution - Missense
RIPK4ENSG00000183421ENST00000352483p.V453Vc.1359C>TSubstitution - coding silent
LAMA3ENSG00000053747ENST00000313654p.D209fs*2c.622_623insGInsertion - Frameshift
CABYRENSG00000154040ENST00000463087p.?c.200-9G>CUnknown
CABYRENSG00000154040ENST00000399496p.?c.200-9G>CUnknown
FASNENSG00000169710ENST00000306749p.?c.7398+4C>GUnknown
SEZ6ENSG00000063015ENST00000317338p.P139Lc.416C>TSubstitution - Missense
TNKSENSG00000173273ENST00000310430p.V1056Vc.3168G>ASubstitution - coding silent
TNKSENSG00000173273ENST00000310430p.V1056Vc.3168G>ASubstitution - coding silent
NUDT18ENSG00000173566ENST00000309188p.R117Hc.350G>ASubstitution - Missense
AF381545.1p.?c.1232+5G>AUnknown
GRM7ENSG00000196277ENST00000389335p.R104Lc.311G>TSubstitution - Missense
GDAENSG00000119125ENST00000358399p.P449Pc.1347G>ASubstitution - coding silent
GDAENSG00000119125ENST00000238018p.P449Pc.1347G>ASubstitution - coding silent
PRKACGENSG00000165059ENST00000377276p.V80Vc.240G>ASubstitution - coding silent
CNTNAP3ENSG00000106714ENST00000297668p.V1237Dc.3710T>ASubstitution - Missense
ENST00000291050p.Q476Lc.1427A>TSubstitution - Missense
LRGUKENSG00000155530ENST00000285928p.C236Fc.707G>TSubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.P445Sc.1333C>TSubstitution - Missense
SLC4A11ENSG00000088836ENST00000380059p.?c.1871+6G>TUnknown
SLC4A11ENSG00000088836ENST00000380056p.?c.1790+6G>TUnknown
ZNF676ENSG00000196109ENST00000397121p.D19Yc.55G>TSubstitution - Missense
C19orf59ENSG00000183019ENST00000333598p.A131Tc.391G>ASubstitution - Missense
ZCCHC12ENSG00000174460ENST00000310164p.G331Dc.992G>ASubstitution - Missense
NEBENSG00000183091ENST00000427231p.A2130Ac.6390C>TSubstitution - coding silent
NEBENSG00000183091ENST00000397345p.A2130Ac.6390C>TSubstitution - coding silent
NEBENSG00000183091ENST00000409198p.A2130Ac.6390C>TSubstitution - coding silent
WFDC12ENSG00000168703ENST00000372785p.V74Mc.220G>ASubstitution - Missense
SEMG2ENSG00000124157ENST00000372769p.G301Ec.902G>ASubstitution - Missense
ZNF225ENSG00000256294ENST00000262894p.?c.143-8G>AUnknown
CICENSG00000079432ENST00000160740p.A774Ac.2322G>ASubstitution - coding silent
SLC1A6ENSG00000105143ENST00000221742p.T210Nc.629C>ASubstitution - Missense
VPS13BENSG00000132549ENST00000358544p.T3508Ic.10523C>TSubstitution - Missense
ENST00000319379p.?c.14340+1G>TUnknown
GIMAP5ENSG00000196329ENST00000358647p.K257Ec.769A>GSubstitution - Missense
LAMB4ENSG00000091128ENST00000205386p.?c.4993-5T>CUnknown
PRRG3ENSG00000130032ENST00000448324p.S3Sc.9G>ASubstitution - coding silent
NM_013364.2p.E163Kc.487G>ASubstitution - Missense
SEPT7ENSG00000122545ENST00000399034p.?c.381-1G>CUnknown
BBS9ENSG00000122507ENST00000242067p.?c.1790-3C>GUnknown
BBS9ENSG00000122507ENST00000242067p.?c.1790-3C>GUnknown
SPATA31D1ENSG00000214929ENST00000344803p.G971Ac.2912G>CSubstitution - Missense
AGTPBP1ENSG00000135049ENST00000357081p.V760Ac.2279T>CSubstitution - Missense
TRPM6ENSG00000119121ENST00000360774p.E1860Vc.5579A>TSubstitution - Missense
APLP1ENSG00000105290ENST00000221891p.T269Tc.807G>ASubstitution - coding silent
CNTNAP1ENSG00000108797ENST00000264638p.R1187Hc.3560G>ASubstitution - Missense
CCL23ENSG00000167236ENST00000293280p.?c.137-10C>AUnknown
BACH2ENSG00000112182ENST00000257749p.I658Vc.1972A>GSubstitution - Missense
BACH2ENSG00000112182ENST00000257749p.I658Vc.1972A>GSubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.L1790Fc.5370G>CSubstitution - Missense
C9orf84ENSG00000165181ENST00000394779p.T363Mc.1088C>TSubstitution - Missense
COL15A1ENSG00000204291ENST00000375001p.L259Fc.777A>TSubstitution - Missense
SYBUENSG00000147642ENST00000399066p.W310Cc.930G>CSubstitution - Missense
MTMR9ENSG00000104643ENST00000221086p.R409Lc.1226G>TSubstitution - Missense
PHF3ENSG00000118482ENST00000262043p.C1702Yc.5105G>ASubstitution - Missense
DSELENSG00000171451ENST00000310045p.D59Hc.175G>CSubstitution - Missense
KIAA0825ENSG00000185261ENST00000312498p.I860Mc.2580A>GSubstitution - Missense
ADD1ENSG00000087274ENST00000264758p.T599fs*91c.1794delCDeletion - Frameshift
APOBRENSG00000184730ENST00000328423p.E690Ec.2070G>ASubstitution - coding silent
HDXENSG00000165259ENST00000297977p.S324Lc.971C>TSubstitution - Missense
IL2RGENSG00000147168ENST00000374202p.Y91Yc.273C>TSubstitution - coding silent
GTF2IRD1ENSG00000006704ENST00000265755p.P527Lc.1580C>TSubstitution - Missense
CUX1ENSG00000257923ENST00000292535p.A777Tc.2329G>ASubstitution - Missense
EPHB4ENSG00000196411ENST00000358173p.R795Qc.2384G>ASubstitution - Missense
ENSG00000228273ENST00000379458p.T274Mc.821C>TSubstitution - Missense
ARMC12ENSG00000157343ENST00000288065p.P6Hc.17C>ASubstitution - Missense
IQGAP2ENSG00000145703ENST00000274364p.Q908*c.2722C>TSubstitution - Nonsense
PPP6R2ENSG00000100239ENST00000359139p.H156Lc.467A>TSubstitution - Missense
PNPT1ENSG00000138035ENST00000447944p.M745Vc.2233A>GSubstitution - Missense
ENST00000272666p.G1581Vc.4742G>TSubstitution - Missense
SKAP2ENSG00000005020ENST00000345317p.M221Vc.661A>GSubstitution - Missense
MYCT1ENSG00000120279ENST00000367245p.E181Dc.543G>TSubstitution - Missense
TET3ENSG00000187605ENST00000409262p.P1567Pc.4701C>GSubstitution - coding silent
ANKRD53ENSG00000144031ENST00000360589p.?c.783-10T>AUnknown
KCTD19ENSG00000168676ENST00000304372p.W601Rc.1801T>CSubstitution - Missense
PDP2ENSG00000172840ENST00000311765p.R361Cc.1081C>TSubstitution - Missense
SLC9A3R1ENSG00000109062ENST00000262613p.R151Wc.451C>TSubstitution - Missense
RBPMSENSG00000157110ENST00000287771p.S196Ic.587G>TSubstitution - Missense
BRPF1ENSG00000156983ENST00000383829p.G1051Sc.3151G>ASubstitution - Missense
ENST00000405167p.T1023Tc.3069C>TSubstitution - coding silent
ENST00000405167p.H1021Dc.3061C>GSubstitution - Missense
ENST00000405167p.P1010Lc.3029C>TSubstitution - Missense
ZDHHC19ENSG00000163958ENST00000296326p.K191Ec.571A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S2135Sc.6405C>TSubstitution - coding silent
ENST00000405167p.S2135Sc.6405C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.P3312Hc.9935C>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P2944Ac.8830C>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T2683Sc.8047A>TSubstitution - Missense
SONENSG00000159140ENST00000300278p.V675Ac.2024T>CSubstitution - Missense
KIR3DL3ENSG00000242019ENST00000291860p.V355Lc.1063G>TSubstitution - Missense
CDK5RAP3ENSG00000108465ENST00000338399p.S403Sc.1209A>CSubstitution - coding silent
CWF19L2ENSG00000152404ENST00000282251p.K738Ec.2212A>GSubstitution - Missense
DYNC2H1ENSG00000187240ENST00000334267p.E84*c.250G>TSubstitution - Nonsense
CYP26C1ENSG00000187553ENST00000285949p.T417Tc.1251G>TSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.I255Sc.764T>GSubstitution - Missense
LAMB4ENSG00000091128ENST00000388780p.?c.4993-5T>CUnknown
SYNE1ENSG00000131018ENST00000341594p.D4721Gc.14162A>GSubstitution - Missense
AGAP6ENSG00000204149ENST00000374056p.S508Gc.1522A>GSubstitution - Missense
TGENSG00000042832ENST00000220616p.H1384Rc.4151A>GSubstitution - Missense
XM_042066p.A355Ac.1065A>GSubstitution - coding silent
VPS13BENSG00000132549ENST00000357162p.T3483Ic.10448C>TSubstitution - Missense
VPS13AENSG00000197969ENST00000357409p.L903Lc.2709A>GSubstitution - coding silent
IL2RGENSG00000147168ENST00000374202p.Y91Yc.273C>TSubstitution - coding silent
CES4AENSG00000172824ENST00000398354p.A222Ac.666G>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T1023Tc.3069C>TSubstitution - coding silent
SHFM1ENSG00000127922ENST00000248566p.E3*c.7G>TSubstitution - Nonsense
ENST00000262719_v68p.L955Lc.2865G>TSubstitution - coding silent
NCOA2ENSG00000140396ENST00000452400p.L1168Lc.3504C>TSubstitution - coding silent
NLRC5ENSG00000140853ENST00000262510p.S1179Sc.3537C>TSubstitution - coding silent
SONENSG00000159140ENST00000356577p.V675Ac.2024T>CSubstitution - Missense
ENSG00000188474ENST00000339302p.S538*c.1613C>ASubstitution - Nonsense
KLHL13ENSG00000003096ENST00000262820p.L145Lc.435A>GSubstitution - coding silent
ZBTB1ENSG00000126804ENST00000358738p.P4Pc.12C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000455263p.I255Sc.764T>GSubstitution - Missense
GLRA2ENSG00000101958ENST00000415367p.T171Tc.513A>GSubstitution - coding silent
TRPM6ENSG00000119121ENST00000449912p.E1855Vc.5564A>TSubstitution - Missense
SYBUENSG00000147642ENST00000422135p.W313Cc.939G>CSubstitution - Missense
SEPT7ENSG00000122545ENST00000469679p.?c.375-1G>CUnknown
TMEM213ENSG00000214128ENST00000422794p.?c.304+9C>TUnknown
SLC35B3ENSG00000124786ENST00000339306p.L93Lc.279A>TSubstitution - coding silent
SORCS2ENSG00000184985ENST00000329016p.I496Vc.1486A>GSubstitution - Missense
TRIM5ENSG00000132256ENST00000305836p.P323Pc.969G>TSubstitution - coding silent
KIDINS220ENSG00000134313ENST00000319688p.Y216Nc.646T>ASubstitution - Missense
PPP6R2ENSG00000100239ENST00000216061p.H156Lc.467A>TSubstitution - Missense
SONENSG00000159140ENST00000290239p.V675Ac.2024T>CSubstitution - Missense
HSH2DENSG00000196684ENST00000397372p.P72Rc.215C>GSubstitution - Missense
APOBRENSG00000184730ENST00000564831p.E699Ec.2097G>ASubstitution - coding silent
FLYWCH1ENSG00000059122ENST00000399667p.R124Hc.371G>ASubstitution - Missense
SERPINA9ENSG00000170054ENST00000546329p.M63Ic.189G>ASubstitution - Missense
CACHD1ENSG00000158966ENST00000290039p.T191Ic.572C>TSubstitution - Missense
LDLRAD1ENSG00000203985ENST00000420619p.G29Ec.86G>ASubstitution - Missense
ATP12AENSG00000075673ENST00000218548p.I1031Ic.3093C>ASubstitution - coding silent
SSH3ENSG00000172830ENST00000308127p.R458Rc.1374C>TSubstitution - coding silent
SHANK2ENSG00000162105ENST00000423696p.K856Tc.2567A>CSubstitution - Missense
OR5J2ENSG00000174957ENST00000312298p.P262Tc.784C>ASubstitution - Missense
TRIM5ENSG00000132256ENST00000380034p.P323Pc.969G>TSubstitution - coding silent
TRIM5ENSG00000132256ENST00000380034p.P323Pc.969G>TSubstitution - coding silent
CARSENSG00000110619ENST00000401769p.A171Tc.511G>ASubstitution - Missense
DUOX1ENSG00000137857ENST00000561166p.G960Vc.2879G>TSubstitution - Missense
WHSC1ENSG00000109685ENST00000382888p.E447Kc.1339G>ASubstitution - Missense
PKHD1ENSG00000170927ENST00000340994p.L2652Lc.7956G>TSubstitution - coding silent
ZNF318ENSG00000171467ENST00000361428p.P2256Sc.6766C>TSubstitution - Missense
SYNGAP1ENSG00000197283ENST00000293748p.P1065Lc.3194C>TSubstitution - Missense
MAP3K1ENSG00000095015ENST00000399503p.A518Ac.1554A>GSubstitution - coding silent
UNC5AENSG00000113763ENST00000329542p.P69Pc.207C>GSubstitution - coding silent
C9orf50ENSG00000179058ENST00000372478p.P414Sc.1240C>TSubstitution - Missense
FAM135BENSG00000147724ENST00000395297p.T1376Ic.4127C>TSubstitution - Missense
UBR3ENSG00000144357ENST00000392631p.T10Ic.29C>TSubstitution - Missense
ZNF280AENSG00000169548ENST00000302097p.S129Pc.385T>CSubstitution - Missense
ZNF70ENSG00000187792ENST00000341976p.C201Rc.601T>CSubstitution - Missense
MMP11ENSG00000099953ENST00000215743p.E150Kc.448G>ASubstitution - Missense
SCFD2ENSG00000184178ENST00000401642p.?c.839-8T>GUnknown
RMDN2ENSG00000115841ENST00000406384p.S142Gc.424A>GSubstitution - Missense
ATP9BENSG00000166377ENST00000307671p.R318Kc.953G>ASubstitution - Missense
WDR52ENSG00000206530ENST00000295868p.?c.2444+2T>GUnknown
SYNE1ENSG00000131018ENST00000265368p.D4974Gc.14921A>GSubstitution - Missense
COMMD10ENSG00000145781ENST00000274458p.Q95Hc.285A>CSubstitution - Missense
SPON2ENSG00000159674ENST00000290902p.R229Wc.685C>TSubstitution - Missense
ENST00000405167p.P3312Hc.9935C>ASubstitution - Missense
CPS1ENSG00000021826ENST00000233072p.A1390fs*37c.4168delGDeletion - Frameshift
TSHRENSG00000165409ENST00000541158p.D619Dc.1857T>CSubstitution - coding silent
ENST00000401058p.S20Cc.59C>GSubstitution - Missense
SLC37A4ENSG00000137700ENST00000330775p.L435Lc.1303C>TSubstitution - coding silent
SLC6A5ENSG00000165970ENST00000525748p.G271Gc.813C>TSubstitution - coding silent
FAM171A1ENSG00000148468ENST00000378116p.R151Sc.453A>CSubstitution - Missense
IGF1RENSG00000140443ENST00000268035p.?c.2201+6C>TUnknown
INTS4ENSG00000149262ENST00000534064p.?c.1372-3A>GUnknown
OR6K3ENSG00000203757ENST00000368146p.V239Vc.717G>TSubstitution - coding silent
PHF20L1ENSG00000129292ENST00000337920p.K238Ec.712A>GSubstitution - Missense
GLRA2ENSG00000101958ENST00000355020p.T187Tc.561A>GSubstitution - coding silent
GLRA2ENSG00000101958ENST00000218075p.T187Tc.561A>GSubstitution - coding silent
PELI1ENSG00000197329ENST00000358912p.N276Sc.827A>GSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.E910Ec.2730A>GSubstitution - coding silent
SCTRENSG00000080293ENST00000019103p.P77Pc.231C>GSubstitution - coding silent
A4GALTENSG00000128274ENST00000249005p.G129Sc.385G>ASubstitution - Missense
ANKUB1ENSG00000206199ENST00000446160p.G161Ac.482G>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.H1021Dc.3061C>GSubstitution - Missense
ENST00000405167p.P2944Ac.8830C>GSubstitution - Missense
DOCK3ENSG00000088538ENST00000266037p.G878Gc.2634G>TSubstitution - coding silent
TXKENSG00000074966ENST00000264316p.L110Rc.329T>GSubstitution - Missense
DTHD1ENSG00000197057ENST00000357504p.S100*c.299C>ASubstitution - Nonsense
RUNX1T1ENSG00000079102ENST00000360348p.N250Sc.749A>GSubstitution - Missense
AKAP6ENSG00000151320ENST00000280979p.R1069Cc.3205C>TSubstitution - Missense
CELSR2ENSG00000143126ENST00000271332p.T999Mc.2996C>TSubstitution - Missense
OVGP1ENSG00000085465ENST00000369732p.?c.1021-1G>AUnknown
RGS7ENSG00000182901ENST00000407727p.R109Qc.326G>ASubstitution - Missense
FLT3ENSG00000122025ENST00000241453p.A642Vc.1925C>TSubstitution - Missense
EPB41ENSG00000159023ENST00000343067p.R647Sc.1941G>TSubstitution - Missense
SCFD1ENSG00000092108ENST00000458591p.D565Ec.1695C>GSubstitution - Missense
OR52R1ENSG00000176937ENST00000380382p.S194Sc.582T>ASubstitution - coding silent
MED4ENSG00000136146ENST00000258648p.?c.193-7C>GUnknown
PHF20L1ENSG00000129292ENST00000220847p.K238Ec.712A>GSubstitution - Missense
FETUBENSG00000090512ENST00000265029p.S229Sc.687C>TSubstitution - coding silent
PNMA3ENSG00000183837ENST00000447306p.E163Kc.487G>ASubstitution - Missense
KIF27ENSG00000165115ENST00000297814p.S323Wc.968C>GSubstitution - Missense
CCR5ENSG00000160791ENST00000343801p.Y68Sc.203A>CSubstitution - Missense
KIAA0825ENSG00000185261ENST00000513200p.I855Mc.2565A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.D4974Gc.14921A>GSubstitution - Missense
CENPEENSG00000138778ENST00000265148p.?c.2287-14_2287-2deltttcttttccataUnknown
CCDC132ENSG00000004766ENST00000305866p.?c.298-7C>TUnknown
XM_374491.1p.?c.3059-9A>TUnknown
PRPF8ENSG00000174231ENST00000304992p.?c.1410-10C>TUnknown
MUC16ENSG00000181143ENST00000397910p.S4235Fc.12704C>TSubstitution - Missense
CYFIP1ENSG00000068793ENST00000313077p.H1024Yc.3070C>TSubstitution - Missense
CCDC33ENSG00000140481ENST00000321288p.D860Nc.2578G>ASubstitution - Missense
NDST2ENSG00000166507ENST00000309979p.F172Fc.516C>TSubstitution - coding silent
CARSENSG00000110619ENST00000397111p.A158Tc.472G>ASubstitution - Missense
LRBAENSG00000198589ENST00000357115p.R2825Qc.8474G>ASubstitution - Missense
GRM7ENSG00000196277ENST00000357716p.R104Lc.311G>TSubstitution - Missense
CATSPER3ENSG00000152705ENST00000282611p.S354Cc.1061C>GSubstitution - Missense
ANKRD53ENSG00000144031ENST00000272421p.?c.783-10T>AUnknown
ENST00000233310p.P728Pc.2184C>GSubstitution - coding silent
ZNF347ENSG00000197937ENST00000334197p.K290Nc.870A>CSubstitution - Missense
PPP1CBENSG00000213639ENST00000296122p.P28Sc.82C>TSubstitution - Missense
CSN3ENSG00000171209ENST00000304954p.A10Vc.29C>TSubstitution - Missense
USO1ENSG00000138768ENST00000264904p.R588Gc.1762C>GSubstitution - Missense
SEZ6ENSG00000063015ENST00000360295p.P139Lc.416C>TSubstitution - Missense
ENST00000405167p.P1042Lc.3125C>TSubstitution - Missense
KCNT2ENSG00000162687ENST00000367431p.G1060Cc.3178G>TSubstitution - Missense
SLC27A6ENSG00000113396ENST00000262462p.I148Mc.444C>GSubstitution - Missense
DUXAENSG00000258873ENST00000554048p.R162Rc.486G>ASubstitution - coding silent
CADENSG00000084774ENST00000264705p.P381Rc.1142C>GSubstitution - Missense
PTPRAENSG00000132670ENST00000380393p.I621Mc.1863C>GSubstitution - Missense
KRTAP11-1ENSG00000182591ENST00000332378p.F46Fc.138C>TSubstitution - coding silent
TMEM213ENSG00000214128ENST00000442682p.?c.154+9C>TUnknown
XM_170754.4p.?c.1612-8T>GUnknown
TLN2ENSG00000171914ENST00000306829p.?c.6664-6C>GUnknown
HIP1RENSG00000130787ENST00000253083p.Q205Kc.613C>ASubstitution - Missense
BTBD6ENSG00000184887ENST00000392554p.E365Kc.1093G>ASubstitution - Missense
CCDC33ENSG00000140481ENST00000268082p.D250Nc.748G>ASubstitution - Missense
TNRC6AENSG00000090905ENST00000395799p.A1097Vc.3290C>TSubstitution - Missense
TSHRENSG00000165409ENST00000541158p.T632Ic.1895C>TSubstitution - Missense
ZBTB43ENSG00000169155ENST00000373457p.E288Ec.864G>ASubstitution - coding silent
CDK5RAP2ENSG00000136861ENST00000349780p.P45Pc.135A>GSubstitution - coding silent
PKHD1ENSG00000170927ENST00000340994p.L2653Lc.7957C>TSubstitution - coding silent
NEBENSG00000183091ENST00000427231p.D3018Dc.9054C>TSubstitution - coding silent
HAPLN4ENSG00000187664ENST00000291481p.A6Sc.16G>TSubstitution - Missense
CES4AENSG00000172824ENST00000326686p.A222Ac.666G>ASubstitution - coding silent
HORMAD2ENSG00000176635ENST00000336726p.?c.411-1G>AUnknown
INPP4AENSG00000040933ENST00000409540p.L679Lc.2037G>ASubstitution - coding silent
ZNF468ENSG00000204604ENST00000243639p.R486Rc.1458T>CSubstitution - coding silent
KRT38ENSG00000171360ENST00000246646p.Q109Ec.325C>GSubstitution - Missense
CORINENSG00000145244ENST00000273857p.E776Kc.2326G>ASubstitution - Missense
KIDINS220ENSG00000134313ENST00000256707p.Y215Nc.643T>ASubstitution - Missense
NUFIP2ENSG00000108256ENST00000225388p.H51_Q52insHc.130_131insACCInsertion - In frame
ZMAT1ENSG00000166432ENST00000372782p.V431Ic.1291G>ASubstitution - Missense
KCNB1ENSG00000158445ENST00000371741p.Q542Kc.1624C>ASubstitution - Missense
PIKFYVEENSG00000115020ENST00000264380p.F563Fc.1689C>TSubstitution - coding silent
LDLRAD1ENSG00000203985ENST00000371360p.G68Ec.203G>ASubstitution - Missense
FAM21AENSG00000099290ENST00000282633p.V82Ic.244G>ASubstitution - Missense
CD248ENSG00000174807ENST00000311330p.Q157Qc.471G>ASubstitution - coding silent
TPOENSG00000115705ENST00000337415p.R684Cc.2050C>TSubstitution - Missense
ENST00000256343_v70p.M227Kc.680T>ASubstitution - Missense
ANXA10ENSG00000109511ENST00000359299p.L44Pc.131T>CSubstitution - Missense
PHF20L1ENSG00000129292ENST00000395386p.K264Ec.790A>GSubstitution - Missense
FLYWCH1ENSG00000059122ENST00000416288p.R123Hc.368G>ASubstitution - Missense
VDAC3ENSG00000078668ENST00000022615p.R120Wc.358C>TSubstitution - Missense
AFF3ENSG00000144218ENST00000356421p.S727Sc.2181C>ASubstitution - coding silent
NM_025134.3p.N2662Sc.7985A>GSubstitution - Missense
TTI1ENSG00000101407ENST00000373448p.L944Fc.2830C>TSubstitution - Missense
LRRC7ENSG00000033122ENST00000035383p.L642Lc.1926T>ASubstitution - coding silent
ZBTB7BENSG00000160685ENST00000292176p.V337Vc.1011G>ASubstitution - coding silent
CLCN6ENSG00000011021ENST00000346436p.F337Fc.1011C>TSubstitution - coding silent
OR5L1ENSG00000186117ENST00000333973p.F177Ic.529T>ASubstitution - Missense
PKHD1ENSG00000170927ENST00000371117p.L2652Lc.7956G>TSubstitution - coding silent
SDK1ENSG00000146555ENST00000404826p.A1625Tc.4873G>ASubstitution - Missense
GFI1BENSG00000165702ENST00000372122p.?c.101-8C>AUnknown
PPYENSG00000108849ENST00000225992p.R54Cc.160C>TSubstitution - Missense
CECR2ENSG00000099954ENST00000262608p.G1151Rc.3451G>CSubstitution - Missense
KLHDC10ENSG00000128607ENST00000335420p.V383Lc.1147G>TSubstitution - Missense
HSD3B2ENSG00000203859ENST00000369416p.A37Vc.110C>TSubstitution - Missense
CGNENSG00000143375ENST00000271636p.N683Tc.2048A>CSubstitution - Missense
CGNENSG00000143375ENST00000271636p.Q691_Q692insLQKTLQc.2048_2049ins18Insertion - In frame
PDCD4ENSG00000150593ENST00000280154p.Y338Cc.1013A>GSubstitution - Missense
RNF6ENSG00000127870ENST00000346166p.R28Kc.83G>ASubstitution - Missense
PFKFB2ENSG00000123836ENST00000367079p.E97Gc.290A>GSubstitution - Missense
CLCNKBENSG00000184908ENST00000375679p.L387Lc.1161G>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.P1042Lc.3125C>TSubstitution - Missense
SH3BP4ENSG00000130147ENST00000344528p.V801Ic.2401G>ASubstitution - Missense
ENST00000392554_v70p.E440Kc.1318G>ASubstitution - Missense
C2orf16ENSG00000221843ENST00000408964p.D1051Gc.3152A>GSubstitution - Missense
FNTAENSG00000168522ENST00000302279p.W208*c.623G>ASubstitution - Nonsense
SLCO5A1ENSG00000137571ENST00000260126p.S840Nc.2519G>ASubstitution - Missense
RUNX1T1ENSG00000079102ENST00000436581p.N298Sc.893A>GSubstitution - Missense
NM_032441.1p.V260Ic.778G>ASubstitution - Missense
FAM179BENSG00000198718ENST00000361577p.D1245Gc.3734A>GSubstitution - Missense
AACSENSG00000081760ENST00000316519p.A590Ac.1770C>TSubstitution - coding silent
NOX4ENSG00000086991ENST00000263317p.Y491Cc.1472A>GSubstitution - Missense
KIAA1217ENSG00000120549ENST00000430453p.V608Ic.1822G>ASubstitution - Missense
CSDE1ENSG00000009307ENST00000358528p.P446Ac.1336C>GSubstitution - Missense
RPS6KB2ENSG00000175634ENST00000312629p.G231Sc.691G>ASubstitution - Missense
DHX32ENSG00000089876ENST00000284690p.R190Sc.570A>CSubstitution - Missense
GPR180ENSG00000152749ENST00000376958p.F356Lc.1068C>GSubstitution - Missense
LINGO2ENSG00000174482ENST00000379992p.L261Mc.781C>ASubstitution - Missense
MRGPRDENSG00000172938ENST00000309106p.R137Qc.410G>ASubstitution - Missense
KCNT2ENSG00000162687ENST00000367431p.V268Ac.803T>CSubstitution - Missense
GSDMCENSG00000147697ENST00000276708p.L502Lc.1506G>ASubstitution - coding silent
PKHD1ENSG00000170927ENST00000371117p.L2653Lc.7957C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000423061p.D4903Gc.14708A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P1010Lc.3029C>TSubstitution - Missense
INPP4AENSG00000040933ENST00000074304p.L718Lc.2154G>ASubstitution - coding silent
CCDC132ENSG00000004766ENST00000251739p.?c.298-7C>TUnknown
LRIG1ENSG00000144749ENST00000383703p.?c.1304+5G>AUnknown
TRHDEENSG00000072657ENST00000261180p.I235Nc.704T>ASubstitution - Missense
FAM208BENSG00000108021ENST00000328090p.S1593Sc.4779C>TSubstitution - coding silent
NLRX1ENSG00000160703ENST00000409265p.A496Tc.1486G>ASubstitution - Missense
ABCC2ENSG00000023839ENST00000370449p.?c.1209+1G>AUnknown
ACANENSG00000157766ENST00000439576p.V1342Ic.4024G>ASubstitution - Missense
DNAI1ENSG00000122735ENST00000242317p.D405Dc.1215C>TSubstitution - coding silent
CCDC13ENSG00000244607ENST00000310232p.R573Wc.1717C>TSubstitution - Missense
ZNF318ENSG00000171467ENST00000361428p.V2255Vc.6765C>TSubstitution - coding silent
RP1L1ENSG00000183638ENST00000382483p.A1444Tc.4330G>ASubstitution - Missense
C9orf84ENSG00000165181ENST00000374283p.T466Mc.1397C>TSubstitution - Missense
GTF3C1ENSG00000077235ENST00000356183p.G899Sc.2695G>ASubstitution - Missense
TTLL12ENSG00000100304ENST00000216129p.R240*c.718C>TSubstitution - Nonsense
F8ENSG00000185010ENST00000360256p.S1139Fc.3416C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T3350Ac.10048A>GSubstitution - Missense
GALNSENSG00000141012ENST00000268695p.G317Gc.951G>TSubstitution - coding silent
PTPRAENSG00000132670ENST00000358719p.I477Mc.1431C>GSubstitution - Missense
RIPK4ENSG00000183421ENST00000332512p.V405Vc.1215C>TSubstitution - coding silent
SIGLEC8ENSG00000105366ENST00000321424p.N82Dc.244A>GSubstitution - Missense
TPSAB1ENSG00000172236ENST00000338844p.H269Nc.805C>ASubstitution - Missense
MEF2DENSG00000116604ENST00000348159p.S121Sc.363C>TSubstitution - coding silent
CSGALNACT2ENSG00000169826ENST00000374466p.M89Lc.265A>TSubstitution - Missense
BBS9ENSG00000122507ENST00000354265p.?c.1685-3C>GUnknown
TPOENSG00000115705ENST00000345913p.R684Cc.2050C>TSubstitution - Missense
CAPN3ENSG00000092529ENST00000357568p.V590Mc.1768G>ASubstitution - Missense
SORCS2ENSG00000184985ENST00000507866p.I668Vc.2002A>GSubstitution - Missense
ADD1ENSG00000087274ENST00000398125p.T599fs*>64c.1794delCDeletion - Frameshift
SYNGAP1ENSG00000197283ENST00000418600p.P1065Lc.3194C>TSubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.G971Ac.2912G>CSubstitution - Missense
AFF4ENSG00000072364ENST00000265343p.D60Ec.180T>ASubstitution - Missense
DGKEENSG00000153933ENST00000284061p.W459Lc.1376G>TSubstitution - Missense
TFENSG00000091513ENST00000402696p.S174Lc.521C>TSubstitution - Missense
CCT7ENSG00000135624ENST00000258091p.M184Lc.550A>TSubstitution - Missense
ENST00000265148.1p.?c.2287-14_2287-2deltttcttttccataUnknown
C2orf16ENSG00000221843ENST00000408964p.D1051Gc.3152A>GSubstitution - Missense
KIR3DL2ENSG00000240403ENST00000326321p.E258Gc.773A>GSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.L2958Fc.8872C>TSubstitution - Missense
AGAP6ENSG00000204149ENST00000374056p.S508Nc.1523G>ASubstitution - Missense
CD5ENSG00000110448ENST00000347785p.V396Mc.1186G>ASubstitution - Missense
NDRG2ENSG00000165795ENST00000397851p.A224Vc.671C>TSubstitution - Missense
SEPT7ENSG00000122545ENST00000494488p.?c.336-1G>CUnknown
SYNE1ENSG00000131018ENST00000448038p.D4903Gc.14708A>GSubstitution - Missense
RMND5BENSG00000145916ENST00000313386p.L205Lc.615G>ASubstitution - coding silent
TRPM6ENSG00000119121ENST00000451710p.E1864Vc.5591A>TSubstitution - Missense
VPS13AENSG00000197969ENST00000376634p.L903Lc.2709A>GSubstitution - coding silent
CHRNDENSG00000135902ENST00000258385p.P356Lc.1067C>TSubstitution - Missense
F8ENSG00000185010ENST00000360256p.S1139Fc.3416C>TSubstitution - Missense
INPP4AENSG00000040933ENST00000074304p.L718Lc.2154G>ASubstitution - coding silent
KIAA1239ENSG00000174145ENST00000309447p.R1515Wc.4543C>TSubstitution - Missense
NM_020777.1p.I518Vc.1552A>GSubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.P445Sc.1333C>TSubstitution - Missense
CPS1ENSG00000021826ENST00000430249p.A1396fs*37c.4186delGDeletion - Frameshift
OR4F15ENSG00000182854ENST00000332238p.L63Lc.189G>CSubstitution - coding silent
KCNT2ENSG00000162687ENST00000294725p.G1126Cc.3376G>TSubstitution - Missense
SHANK2ENSG00000162105ENST00000338508p.K1236Tc.3707A>CSubstitution - Missense
SLC18A2ENSG00000165646ENST00000298472p.A298Vc.893C>TSubstitution - Missense
PCNXL2ENSG00000135749ENST00000258229p.I1534Ic.4602C>ASubstitution - coding silent
CLCNKBENSG00000184908ENST00000375667p.L218Lc.654G>TSubstitution - coding silent
GAPVD1ENSG00000165219ENST00000394105p.N1255Sc.3764A>GSubstitution - Missense
FAM135BENSG00000147724ENST00000395297p.T1376Ic.4127C>TSubstitution - Missense
HSH2DENSG00000196684ENST00000253680p.P161Rc.482C>GSubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.?c.14505+1G>TUnknown
GIMAP8ENSG00000171115ENST00000307271p.E540Dc.1620G>TSubstitution - Missense
VPS13AENSG00000197969ENST00000360280p.L903Lc.2709A>GSubstitution - coding silent
ASIC5ENSG00000256394ENST00000537611p.G268Gc.804G>TSubstitution - coding silent
KIAA2018ENSG00000176542ENST00000316407p.E1034*c.3100G>TSubstitution - Nonsense
FAM194AENSG00000163645ENST00000295910p.S213Sc.639G>ASubstitution - coding silent
SLC5A4ENSG00000100191ENST00000266086p.G138Gc.414G>ASubstitution - coding silent
BSNENSG00000164061ENST00000296452p.Q3760Qc.11280G>ASubstitution - coding silent
TMPRSS15ENSG00000154646ENST00000284885p.W462*c.1385G>ASubstitution - Nonsense
RUNX1T1ENSG00000079102ENST00000265814p.N287Sc.860A>GSubstitution - Missense
ZNF536ENSG00000198597ENST00000355537p.G734Gc.2202C>TSubstitution - coding silent
FLG2ENSG00000143520ENST00000388718p.T1243Tc.3729A>GSubstitution - coding silent
ENST00000369728p.?c.1213-1G>AUnknown
RGS7ENSG00000182901ENST00000366565p.R109Qc.326G>ASubstitution - Missense
OR52R1ENSG00000176937ENST00000356069p.S114Sc.342T>ASubstitution - coding silent
KLHL13ENSG00000003096ENST00000539496p.L148Lc.444A>GSubstitution - coding silent
INPP4AENSG00000040933ENST00000545415p.L679Lc.2037G>ASubstitution - coding silent
GRM7ENSG00000196277ENST00000403881p.R104Lc.311G>TSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.I255Sc.764T>GSubstitution - Missense
GPR141ENSG00000187037ENST00000334425p.V35Vc.105C>TSubstitution - coding silent
CEACAM5ENSG00000105388ENST00000221992p.R563Kc.1688G>ASubstitution - Missense
FAXDC2ENSG00000170271ENST00000326080p.V86Mc.256G>ASubstitution - Missense
SLC35B3ENSG00000124786ENST00000379660p.L93Lc.279A>TSubstitution - coding silent
SLC35B3ENSG00000124786ENST00000426876p.L159Lc.477A>TSubstitution - coding silent
AGTPBP1ENSG00000135049ENST00000376083p.V720Ac.2159T>CSubstitution - Missense
NEU2ENSG00000115488ENST00000233840p.A180Tc.538G>ASubstitution - Missense
ABCA5ENSG00000154265ENST00000392676p.P1387Sc.4159C>TSubstitution - Missense
SPDYAENSG00000163806ENST00000334056p.P28Sc.82C>TSubstitution - Missense
HIST1H2BCENSG00000180596ENST00000396984p.K17Rc.50A>GSubstitution - Missense
AMFRENSG00000159461ENST00000290649p.E526Gc.1577A>GSubstitution - Missense
DYRK1AENSG00000157540ENST00000398960p.T738Ic.2213C>TSubstitution - Missense
MYOM1ENSG00000101605ENST00000356443p.V712Ac.2135T>CSubstitution - Missense
EMILIN2ENSG00000132205ENST00000254528p.T197_V198insRTc.582_583insACAAGGInsertion - In frame
APPBP2ENSG00000062725ENST00000083182p.I9Vc.25A>GSubstitution - Missense
SSFA2ENSG00000138434ENST00000431877p.G390Ec.1169G>ASubstitution - Missense
LIPCENSG00000166035ENST00000299022p.P114Tc.340C>ASubstitution - Missense
KIAA1217ENSG00000120549ENST00000376454p.V722Ic.2164G>ASubstitution - Missense
ENST00000420314p.E210Ec.630G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000413465p.I255Sc.764T>GSubstitution - Missense
CAPN3ENSG00000092529ENST00000318023p.V590Mc.1768G>ASubstitution - Missense
NEBENSG00000183091ENST00000397345p.D3018Dc.9054C>TSubstitution - coding silent
DUSP14ENSG00000161326ENST00000394389p.T92Tc.276C>TSubstitution - coding silent
C9orf84ENSG00000165181ENST00000374287p.T402Mc.1205C>TSubstitution - Missense
WDR52ENSG00000206530ENST00000295868p.Q273Qc.819G>ASubstitution - coding silent
PGAM4ENSG00000226784ENST00000458128p.A252Ac.756C>ASubstitution - coding silent


COSMIC

1 mutations reported
1 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
TERTENSG00000164362ENST00000310581p.?c.1-124C>TUnknown23833040