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Mutations
Copy Number Variation
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RNAi
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C2BBE1 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

692 mutations reported
215 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
TEX36ENSG00000175018ENST00000368821p.R16Gc.46A>GSubstitution - Missense
KRT74ENSG00000170484ENST00000305620p.G74Rc.220G>CSubstitution - Missense
NR4A1ENSG00000123358ENST00000243050p.L26Lc.78G>TSubstitution - coding silent
DIP2BENSG00000066084ENST00000301180p.G442Ac.1325G>CSubstitution - Missense
ZNF641ENSG00000167528ENST00000301042p.R49Lc.146G>TSubstitution - Missense
EPS8ENSG00000151491ENST00000281172p.P626Sc.1876C>TSubstitution - Missense
LMO3ENSG00000048540ENST00000354662p.A79Ac.237C>TSubstitution - coding silent
GPR137BENSG00000077585ENST00000366592p.?c.1091+2T>AUnknown
OS9ENSG00000135506ENST00000315970p.E100Qc.298G>CSubstitution - Missense
NDUFA4L2ENSG00000185633ENST00000554503p.R12Wc.34C>TSubstitution - Missense
KIRRELENSG00000183853ENST00000392272p.V138Vc.414A>GSubstitution - coding silent
RRNAD1ENSG00000143303ENST00000368216p.R251Cc.751C>TSubstitution - Missense
ENST00000349637p.?c.668-5G>AUnknown
GRAMD1BENSG00000023171ENST00000529750p.Y430Cc.1289A>GSubstitution - Missense
GRAMD1BENSG00000023171ENST00000322282p.Y430Cc.1289A>GSubstitution - Missense
ROBO3ENSG00000154134ENST00000397801p.Q455Lc.1364A>TSubstitution - Missense
ROBO3ENSG00000154134ENST00000397801p.Q455Lc.1364A>TSubstitution - Missense
TECTAENSG00000109927ENST00000392793p.V683Vc.2049C>GSubstitution - coding silent
ITIH5ENSG00000123243ENST00000256861p.V878Lc.2632G>CSubstitution - Missense
CDC42BPAENSG00000143776ENST00000334218p.G1108Ec.3323G>ASubstitution - Missense
CDC42BPAENSG00000143776ENST00000366767p.G1027Ec.3080G>ASubstitution - Missense
CAPN2ENSG00000162909ENST00000295006p.E682Kc.2044G>ASubstitution - Missense
ABCC4ENSG00000125257ENST00000376887p.R879Qc.2636G>ASubstitution - Missense
OAS1ENSG00000089127ENST00000452357p.R295Sc.885G>TSubstitution - Missense
TRPV4ENSG00000111199ENST00000261740p.S417Lc.1250C>TSubstitution - Missense
ERBB3ENSG00000065361ENST00000267101p.D857Nc.2569G>ASubstitution - Missense
ERBB3ENSG00000065361ENST00000267101p.D857Nc.2569G>ASubstitution - Missense
TRAT1ENSG00000163519ENST00000295756p.E76Kc.226G>ASubstitution - Missense
HRH2ENSG00000113749ENST00000377291p.A253Vc.758C>TSubstitution - Missense
SPHKAPENSG00000153820ENST00000392056p.R1066Qc.3197G>ASubstitution - Missense
XM_051221.5p.R1066Qc.3197G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.A12207Tc.36619G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.A12274Tc.36820G>ASubstitution - Missense
COL6A3ENSG00000163359ENST00000295550p.A1790Ac.5370G>ASubstitution - coding silent
ENST00000306030_v65p.R246Qc.737G>ASubstitution - Missense
ABCC3ENSG00000108846ENST00000285238p.A86Ac.258G>ASubstitution - coding silent
ABCC3ENSG00000108846ENST00000427699p.A86Ac.258G>ASubstitution - coding silent
PRPF40BENSG00000110844ENST00000380281p.P14Pc.42A>CSubstitution - coding silent
ZDBF2ENSG00000204186ENST00000374423p.R1213Qc.3638G>ASubstitution - Missense
NFATC4ENSG00000100968ENST00000250373p.S217Lc.650C>TSubstitution - Missense
CRHR2ENSG00000106113ENST00000471646p.I244Ic.732C>TSubstitution - coding silent
CRHR2ENSG00000106113ENST00000341843p.I230Ic.690C>TSubstitution - coding silent
F11ENSG00000088926ENST00000403665p.T179Tc.537G>ASubstitution - coding silent
MTORENSG00000198793ENST00000361445p.Y1151Cc.3452A>GSubstitution - Missense
FBXO24ENSG00000106336ENST00000241071p.R333Rc.999C>TSubstitution - coding silent
ENST00000273083p.T254Mc.761C>TSubstitution - Missense
PRAMEENSG00000185686ENST00000398741p.I196Tc.587T>CSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.E204*c.610G>TSubstitution - Nonsense
ENST00000545858p.E111*c.331G>TSubstitution - Nonsense
EXOC3L1ENSG00000179044ENST00000314586p.A514Dc.1541C>ASubstitution - Missense
CTNNB1ENSG00000168036ENST00000349496p.G245Ac.734G>CSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.E204*c.610G>TSubstitution - Nonsense
ENST00000369365_v70p.V3611Gc.10832T>GSubstitution - Missense
ENST00000369365_v68p.V3611Gc.10832T>GSubstitution - Missense
NBPF8ENSG00000162825ENST00000369365p.V3611Gc.10832T>GSubstitution - Missense
ENST00000280576p.P1476Sc.4426C>TSubstitution - Missense
ZNF664ENSG00000179195ENST00000337815p.D62Yc.184G>TSubstitution - Missense
RNF111ENSG00000157450ENST00000434298p.S267Cc.800C>GSubstitution - Missense
RBBP5ENSG00000117222ENST00000264515p.E523*c.1567G>TSubstitution - Nonsense
COPS2ENSG00000166200ENST00000388901p.S26Cc.77C>GSubstitution - Missense
ZC3H11AENSG00000058673ENST00000367210p.V657Vc.1971G>CSubstitution - coding silent
NFASCENSG00000163531ENST00000339876p.S684Sc.2052C>TSubstitution - coding silent
TRIM46ENSG00000163462ENST00000334634p.Q134Hc.402A>CSubstitution - Missense
SLC27A3ENSG00000143554ENST00000368661p.R667Qc.2000G>ASubstitution - Missense
KIAA1551ENSG00000174718ENST00000312561p.E1634Qc.4900G>CSubstitution - Missense
PPFIBP1ENSG00000110841ENST00000318304p.E294Kc.880G>ASubstitution - Missense
PPFIBP1ENSG00000110841ENST00000228425p.E263Kc.787G>ASubstitution - Missense
ZYG11AENSG00000203995ENST00000371528p.A650Ac.1950A>GSubstitution - coding silent
ADCY10ENSG00000143199ENST00000367851p.?c.292+5G>AUnknown
PLA2G4EENSG00000188089ENST00000413860p.L511Mc.1531C>ASubstitution - Missense
TSPAN2ENSG00000134198ENST00000369516p.A213Pc.637G>CSubstitution - Missense
WDR3ENSG00000065183ENST00000349139p.R930Rc.2790G>ASubstitution - coding silent
CITENSG00000122966ENST00000392521p.S248_N249insSc.744_745insTCAInsertion - In frame
SU_CRIKp.S249_N250insSc.747_748insTCAInsertion - In frame
PRB4ENSG00000230657ENST00000279575p.P237Hc.710C>ASubstitution - Missense
ENST00000373722p.E492Dc.1476G>TSubstitution - Missense
IPMKENSG00000151151ENST00000373935p.R41Rc.123C>GSubstitution - coding silent
CSTF2TENSG00000177613ENST00000331173p.A450Ac.1350A>CSubstitution - coding silent
PCDH15ENSG00000150275ENST00000361849p.L1625Sc.4874T>CSubstitution - Missense
PARNENSG00000140694ENST00000437198p.S280Sc.840G>ASubstitution - coding silent
TGFB3ENSG00000119699ENST00000238682p.H117Hc.351C>TSubstitution - coding silent
ASPMENSG00000066279ENST00000367409p.A964Ac.2892C>TSubstitution - coding silent
NELL1ENSG00000165973ENST00000357134p.A491Vc.1472C>TSubstitution - Missense
NXPE2ENSG00000204361ENST00000389586p.M335fs*8c.1003_1004insAInsertion - Frameshift
NXPE2ENSG00000204361ENST00000389586p.M335fs*8c.1003_1004insAInsertion - Frameshift
TPH2ENSG00000139287ENST00000333850p.K429Rc.1286A>GSubstitution - Missense
NM_004667.3p.?c.6556-9C>GUnknown
NM_004667.3p.M39Tc.116T>CSubstitution - Missense
ENST00000563027_v68p.S553Fc.1658C>TSubstitution - Missense
ENSG00000116883ENST00000373137p.V29Vc.87C>TSubstitution - coding silent
CSMD2ENSG00000121904ENST00000241312p.S535Fc.1604C>TSubstitution - Missense
SLC9C2ENSG00000162753ENST00000367714p.F667Sc.2000T>CSubstitution - Missense
PRRC2CENSG00000117523ENST00000392078p.I2389Ic.7167C>TSubstitution - coding silent
DCLK1ENSG00000133083ENST00000379893p.N8Nc.24T>CSubstitution - coding silent
DCLK1ENSG00000133083ENST00000255448p.N315Nc.945T>CSubstitution - coding silent
EXOSC8ENSG00000120699ENST00000389704p.G77Ec.230G>ASubstitution - Missense
LNX2ENSG00000139517ENST00000316334p.A544Ac.1632G>ASubstitution - coding silent
AKAP3ENSG00000111254ENST00000545990p.R130Hc.389G>ASubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.F1887Fc.5661C>TSubstitution - coding silent
ADAMTS20ENSG00000173157ENST00000389420p.F1887Fc.5661C>TSubstitution - coding silent
ANO4ENSG00000151572ENST00000392979p.G780Wc.2338G>TSubstitution - Missense
SUFUENSG00000107882ENST00000369902p.T407Tc.1221G>ASubstitution - coding silent
DNMBPENSG00000107554ENST00000324109p.E1097Gc.3290A>GSubstitution - Missense
DNMBPENSG00000107554ENST00000342239p.E1121Gc.3362A>GSubstitution - Missense
DNMBPENSG00000107554ENST00000324109p.S773Cc.2318C>GSubstitution - Missense
GPAMENSG00000119927ENST00000348367p.G600Gc.1800G>ASubstitution - coding silent
SCFD1ENSG00000092108ENST00000458591p.A131Gc.392C>GSubstitution - Missense
DHRS4ENSG00000157326ENST00000313250p.G250Vc.749G>TSubstitution - Missense
CDH24ENSG00000139880ENST00000397359p.E135fs*44c.400_401insCInsertion - Frameshift
ARHGEF40ENSG00000165801ENST00000298694p.?c.2641-4G>AUnknown
RPGRIP1ENSG00000092200ENST00000400017p.E489Kc.1465G>ASubstitution - Missense
RPGRIP1ENSG00000092200ENST00000400017p.E105Kc.313G>ASubstitution - Missense
RPGRIP1ENSG00000092200ENST00000400017p.G533Vc.1598G>TSubstitution - Missense
TOX4ENSG00000092203ENST00000262709p.L400Lc.1200C>TSubstitution - coding silent
EBF3ENSG00000108001ENST00000355311p.S541Nc.1622G>ASubstitution - Missense
C10orf120ENSG00000183559ENST00000329446p.C48Fc.143G>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.E14297Dc.42891A>CSubstitution - Missense
NM_003319p.E14105Dc.42315A>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.W25534*c.76602G>ASubstitution - Nonsense
RAD51AP2ENSG00000214842ENST00000399080p.P118Sc.352C>TSubstitution - Missense
DGCR2ENSG00000070413ENST00000263196p.R88Wc.262C>TSubstitution - Missense
CCM2LENSG00000101331ENST00000300415p.S408Sc.1224C>TSubstitution - coding silent
CCDC42ENSG00000161973ENST00000293845p.E52Qc.154G>CSubstitution - Missense
PCM1ENSG00000078674ENST00000325083p.R1310Rc.3930A>GSubstitution - coding silent
COL1A2ENSG00000164692ENST00000297268p.R216Hc.647G>ASubstitution - Missense
PARP12ENSG00000059378ENST00000263549p.R636Hc.1907G>ASubstitution - Missense
MGAMENSG00000257335ENST00000475668p.Y2391Yc.7173C>TSubstitution - coding silent
ENST00000242365_v65p.G1228Gc.3684T>CSubstitution - coding silent
HIST1H2BCENSG00000180596ENST00000396984p.A8Ac.24T>CSubstitution - coding silent
PCBP4ENSG00000090097ENST00000461554p.?c.106-10C>TUnknown
MST1ENSG00000173531ENST00000449682p.P503Pc.1509G>ASubstitution - coding silent
ERGENSG00000157554ENST00000417133p.G344Rc.1030G>ASubstitution - Missense
RCAN1ENSG00000159200ENST00000313806p.T247Mc.740C>TSubstitution - Missense
RCAN1ENSG00000159200ENST00000381132p.T192Mc.575C>TSubstitution - Missense
KRT33AENSG00000006059ENST00000007735p.V258Mc.772G>ASubstitution - Missense
PCGF3ENSG00000185619ENST00000362003p.N124Sc.371A>GSubstitution - Missense
CABS1ENSG00000145309ENST00000273936p.S296Sc.888T>CSubstitution - coding silent
EPHA3ENSG00000044524ENST00000452448p.L10Fc.28C>TSubstitution - Missense
FRG2CENSG00000172969ENST00000308062p.Q198Kc.592C>ASubstitution - Missense
DLGAP1ENSG00000170579ENST00000315677p.R403Qc.1208G>ASubstitution - Missense
DLGAP1ENSG00000170579ENST00000539435p.R101Qc.302G>ASubstitution - Missense
DLGAP1ENSG00000170579ENST00000534970p.R115Qc.344G>ASubstitution - Missense
NM_031968.1p.T137Tc.411G>ASubstitution - coding silent
SPAG5ENSG00000076382ENST00000321765p.T466Ic.1397C>TSubstitution - Missense
ERAL1ENSG00000132591ENST00000254928p.T251Tc.753G>ASubstitution - coding silent
C3orf67ENSG00000163689ENST00000295966p.G104Gc.312A>GSubstitution - coding silent
KIAA1161ENSG00000164976ENST00000297625p.D207Dc.621C>TSubstitution - coding silent
TMEM189-UBE2V1ENSG00000124208ENST00000341698p.L64Lc.192C>GSubstitution - coding silent
CDS2ENSG00000101290ENST00000460006p.R331Qc.992G>ASubstitution - Missense
ENST00000344237p.G439Vc.1316G>TSubstitution - Missense
ZNF341ENSG00000131061ENST00000342427p.H666Dc.1996C>GSubstitution - Missense
TSHZ3ENSG00000121297ENST00000240587p.H168Nc.502C>ASubstitution - Missense
ENSG00000178404ENST00000322630p.H188Yc.562C>TSubstitution - Missense
NM_004259.4p.D545Nc.1633G>ASubstitution - Missense
DRG2ENSG00000108591ENST00000225729p.H317Hc.951C>TSubstitution - coding silent
RAB40ALENSG00000102128ENST00000218249p.G26Rc.76G>CSubstitution - Missense
MUC16ENSG00000181143ENST00000380951p.R284Qc.851G>ASubstitution - Missense
VAV1ENSG00000141968ENST00000304076p.?c.2013-5T>CUnknown
RNF113AENSG00000125352ENST00000371442p.P259Sc.775C>TSubstitution - Missense
PTH2RENSG00000144407ENST00000272847p.?c.178+6G>TUnknown
MAP2ENSG00000078018ENST00000360351p.E255Kc.763G>ASubstitution - Missense
MYT1LENSG00000186487ENST00000399161p.D198Nc.592G>ASubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.S1716Cc.5147C>GSubstitution - Missense
ITGAVENSG00000138448ENST00000261023p.?c.3051+9C>TUnknown
ENST00000356127p.C6437Sc.19310G>CSubstitution - Missense
WNT3ENSG00000108379ENST00000225512p.?c.588+9G>AUnknown
ENST00000456564p.P734Pc.2202T>CSubstitution - coding silent
PLEKHM1ENSG00000225190ENST00000430334p.R628Gc.1882C>GSubstitution - Missense
CRHR1ENSG00000120088ENST00000314537p.?c.434+5G>AUnknown
WDR24ENSG00000127580ENST00000248142p.A29Ac.87C>TSubstitution - coding silent
GLG1ENSG00000090863ENST00000205061p.S453Sc.1359C>TSubstitution - coding silent
SPEF2ENSG00000152582ENST00000282469p.K442Ec.1324A>GSubstitution - Missense
MCF2LENSG00000126217ENST00000375604p.L312Fc.936G>CSubstitution - Missense
UACAENSG00000137831ENST00000379983p.T421Mc.1262C>TSubstitution - Missense
XM_372532.2p.?c.512-8G>TUnknown
STON2ENSG00000140022ENST00000267540p.A609Tc.1825G>ASubstitution - Missense
FBXO34ENSG00000178974ENST00000313833p.A223Pc.667G>CSubstitution - Missense
SLC44A5ENSG00000137968ENST00000370855p.K157Kc.471G>ASubstitution - coding silent
SLC44A5ENSG00000137968ENST00000370859p.K157Kc.471G>ASubstitution - coding silent
JAK1ENSG00000162434ENST00000342505p.I375Vc.1123A>GSubstitution - Missense
ZNF629ENSG00000102870ENST00000262525p.H684Hc.2052C>TSubstitution - coding silent
ZNF668ENSG00000167394ENST00000539836p.A395Vc.1184C>TSubstitution - Missense
GDPD3ENSG00000102886ENST00000406256p.P193Pc.579C>TSubstitution - coding silent
ENST00000305663p.R232Cc.694C>TSubstitution - Missense
DACT3ENSG00000197380ENST00000391916p.K606Kc.1818A>GSubstitution - coding silent
ERCC1ENSG00000012061ENST00000300853p.F231Lc.693C>GSubstitution - Missense
FBXO24ENSG00000106336ENST00000427939p.R371Rc.1113C>TSubstitution - coding silent
CMTR1ENSG00000137200ENST00000373451p.L389Fc.1165C>TSubstitution - Missense
NSA2ENSG00000164346ENST00000296802p.V224Ec.671T>ASubstitution - Missense
ADCY2ENSG00000078295ENST00000338316p.?c.211-6C>TUnknown
ITPR1ENSG00000150995ENST00000302640p.E1712Qc.5134G>CSubstitution - Missense
CDCP1ENSG00000163814ENST00000296129p.L659Fc.1975C>TSubstitution - Missense
PNPLA3ENSG00000100344ENST00000216180p.E467Qc.1399G>CSubstitution - Missense
GATA2ENSG00000179348ENST00000341105p.S54Wc.161C>GSubstitution - Missense
HEG1ENSG00000173706ENST00000311127p.V493Ic.1477G>ASubstitution - Missense
USP34ENSG00000115464ENST00000398571p.S1873Sc.5619C>GSubstitution - coding silent
ARHGAP25ENSG00000163219ENST00000409202p.S534Ic.1601G>TSubstitution - Missense
ACSL3ENSG00000123983ENST00000357430p.S45Sc.135C>GSubstitution - coding silent
ACSL3ENSG00000123983ENST00000357430p.S45Sc.135C>GSubstitution - coding silent
USP37ENSG00000135913ENST00000258399p.N256Nc.768T>CSubstitution - coding silent
SLC35F5ENSG00000115084ENST00000245680p.?c.921-7C>TUnknown
DPP10ENSG00000175497ENST00000410059p.V730Gc.2189T>GSubstitution - Missense
DPP10ENSG00000175497ENST00000310323p.V723Gc.2168T>GSubstitution - Missense
DDX18ENSG00000088205ENST00000263239p.T190Sc.568A>TSubstitution - Missense
CLASP1ENSG00000074054ENST00000455322p.G779Gc.2337A>GSubstitution - coding silent
CLIC2ENSG00000155962ENST00000369449p.M38Rc.113T>GSubstitution - Missense
CRHR2ENSG00000106113ENST00000348438p.I271Ic.813C>TSubstitution - coding silent
INMTENSG00000241644ENST00000013222p.L235Lc.705C>GSubstitution - coding silent
RHBDD2ENSG00000005486ENST00000006777p.D215Nc.643G>ASubstitution - Missense
STYXL1ENSG00000127952ENST00000359697p.R133Hc.398G>ASubstitution - Missense
VIPENSG00000146469ENST00000367244p.Q8Hc.24G>TSubstitution - Missense
AKAP12ENSG00000131016ENST00000402676p.G67Sc.199G>ASubstitution - Missense
ZFP62ENSG00000196670ENST00000512132p.I768Vc.2302A>GSubstitution - Missense
BOD1L1ENSG00000038219ENST00000040738p.R2385Wc.7153C>TSubstitution - Missense
MED12LENSG00000144893ENST00000474524p.P635Lc.1904C>TSubstitution - Missense
P2RY12ENSG00000169313ENST00000302632p.M47Ic.141G>CSubstitution - Missense
KCMF1ENSG00000176407ENST00000409785p.T43Ac.127A>GSubstitution - Missense
NAGKENSG00000124357ENST00000244204p.G151Gc.453T>GSubstitution - coding silent
EXOC3L1ENSG00000179044ENST00000314586p.A514Dc.1541C>ASubstitution - Missense
EPM2AIP1ENSG00000178567ENST00000322716p.E328Kc.982G>ASubstitution - Missense
ANAPC1ENSG00000153107ENST00000341068p.R40Cc.118C>TSubstitution - Missense
MRPS9ENSG00000135972ENST00000258455p.V241Mc.721G>ASubstitution - Missense
ABCA9ENSG00000154258ENST00000340001p.Y1066Yc.3198C>TSubstitution - coding silent
ZSCAN4ENSG00000180532ENST00000318203p.Q51Rc.152A>GSubstitution - Missense
ZSCAN18ENSG00000121413ENST00000433686p.S405Sc.1215G>ASubstitution - coding silent
ZSCAN5DENSG00000267908ENST00000600684p.K255Qc.763A>CSubstitution - Missense
SLC20A2ENSG00000168575ENST00000342228p.T297Tc.891C>TSubstitution - coding silent
ABCG2ENSG00000118777ENST00000237612p.S261Lc.782C>TSubstitution - Missense
ABCG2ENSG00000118777ENST00000237612p.S261Lc.782C>TSubstitution - Missense
ENST00000405167p.G2412Gc.7236T>ASubstitution - coding silent
C2orf71ENSG00000179270ENST00000331664p.R1017Sc.3051A>CSubstitution - Missense
SRMSENSG00000125508ENST00000217188p.S172fs*32c.513delCDeletion - Frameshift
OGFRENSG00000060491ENST00000370461p.P594Lc.1781C>TSubstitution - Missense
ZNF600ENSG00000189190ENST00000338230p.R510Kc.1529G>ASubstitution - Missense
NETO2ENSG00000171208ENST00000562435p.K386Rc.1157A>GSubstitution - Missense
CD47ENSG00000196776ENST00000361309p.A261Ac.783G>TSubstitution - coding silent
NM_020654.2p.D512Hc.1534G>CSubstitution - Missense
DNAH7ENSG00000118997ENST00000312428p.D730Gc.2189A>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.P5740Ac.17218C>GSubstitution - Missense
NM_003319p.P5615Ac.16843C>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.P17534Ac.52600C>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.P17601Ac.52801C>GSubstitution - Missense
NM_003319p.P17409Ac.52225C>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.E20602Dc.61806A>CSubstitution - Missense
USP20ENSG00000136878ENST00000315480p.T258Tc.774G>ASubstitution - coding silent
USP20ENSG00000136878ENST00000372429p.T258Tc.774G>ASubstitution - coding silent
NUP214ENSG00000126883ENST00000359428p.R854Qc.2561G>ASubstitution - Missense
DNM1ENSG00000106976ENST00000341179p.?c.1196+4C>TUnknown
DNM1ENSG00000106976ENST00000372923p.?c.1196+4C>TUnknown
NR6A1ENSG00000148200ENST00000487099p.E427Kc.1279G>ASubstitution - Missense
WDR38ENSG00000136918ENST00000373574p.T86Ic.257C>TSubstitution - Missense
SLC2A8ENSG00000136856ENST00000373371p.S270Sc.810G>CSubstitution - coding silent
PAPPAENSG00000182752ENST00000328252p.E1202Vc.3605A>TSubstitution - Missense
XIRP2ENSG00000163092ENST00000295237p.T2573Tc.7719T>CSubstitution - coding silent
DPP4ENSG00000197635ENST00000360534p.I590Ic.1770C>TSubstitution - coding silent
ENST00000400460p.T49Mc.146C>TSubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.S2472Gc.7414A>GSubstitution - Missense
CLOCKENSG00000134852ENST00000381322p.L467Lc.1401A>GSubstitution - coding silent
YWHABENSG00000166913ENST00000353703p.?c.424+120_741del2203Unknown
ENST00000373263p.R372Qc.1115G>ASubstitution - Missense
CHD6ENSG00000124177ENST00000373233p.P2693Pc.8079C>TSubstitution - coding silent
TMEM145ENSG00000167619ENST00000301204p.?c.577+6T>CUnknown
TCF3ENSG00000071564ENST00000262965p.R550Rc.1650C>TSubstitution - coding silent
C16orf59ENSG00000162062ENST00000361837p.L394fs*2c.1181delTDeletion - Frameshift
PKD1ENSG00000008710ENST00000262304p.R3647Wc.10939C>TSubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.G1925Vc.5774G>TSubstitution - Missense
ENST00000316490_v65p.I1534delIc.4601_4603delTAADeletion - In frame
ENST00000316490p.I1486delIc.4457_4459delTAADeletion - In frame
ENST00000331116p.S328*c.983C>GSubstitution - Nonsense
PDPRENSG00000090857ENST00000288050p.Q111Kc.331C>ASubstitution - Missense
COBLENSG00000106078ENST00000265136p.G952Rc.2854G>CSubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.R3589Ic.10766G>TSubstitution - Missense
ENST00000319379p.R3534Ic.10601G>TSubstitution - Missense
NOS3ENSG00000164867ENST00000297494p.R1172Cc.3514C>TSubstitution - Missense
KELENSG00000197993ENST00000355265p.L705Lc.2115C>TSubstitution - coding silent
PRRC2AENSG00000204469ENST00000376033p.P511Pc.1533A>GSubstitution - coding silent
SOX30ENSG00000039600ENST00000265007p.P340Pc.1020C>TSubstitution - coding silent
EBF1ENSG00000164330ENST00000313708p.V436Mc.1306G>ASubstitution - Missense
ANKHD1ENSG00000131503ENST00000360839p.T1954Ic.5861C>TSubstitution - Missense
ANLNENSG00000011426ENST00000265748p.?c.2016-7C>TUnknown
SARDHENSG00000123453ENST00000371868p.V254Vc.762G>ASubstitution - coding silent
SARDHENSG00000123453ENST00000371872p.A479Pc.1435G>CSubstitution - Missense
PHC3ENSG00000173889ENST00000495893p.D791Ec.2373C>ASubstitution - Missense
CATSPERGENSG00000099338ENST00000409235p.T985Mc.2954C>TSubstitution - Missense
CATSPERGENSG00000099338ENST00000312265p.T625Mc.1874C>TSubstitution - Missense
TJP3ENSG00000105289ENST00000262968p.R172Rc.516C>GSubstitution - coding silent
WDR87ENSG00000171804ENST00000447313p.Q1497Ec.4489C>GSubstitution - Missense
PRR11ENSG00000068489ENST00000262293p.R296Wc.886C>TSubstitution - Missense
GRAMD1AENSG00000089351ENST00000317991p.T583Tc.1749C>GSubstitution - coding silent
ADAM11ENSG00000073670ENST00000200557p.L305Fc.913C>TSubstitution - Missense
ABCC3ENSG00000108846ENST00000285238p.N1181Dc.3541A>GSubstitution - Missense
GHDCENSG00000167925ENST00000414034p.T176Tc.528C>TSubstitution - coding silent
NRXN1ENSG00000179915ENST00000342183p.A356Ec.1067C>ASubstitution - Missense
CAMKMTENSG00000143919ENST00000378494p.I205Vc.613A>GSubstitution - Missense
ENSG00000262304ENST00000572705p.T709Mc.2126C>TSubstitution - Missense
TRPV1ENSG00000196689ENST00000399756p.T720Mc.2159C>TSubstitution - Missense
SNRNP48ENSG00000168566ENST00000342415p.S107Sc.321G>TSubstitution - coding silent
IMPG1ENSG00000112706ENST00000369950p.L214Lc.642C>TSubstitution - coding silent
STX17ENSG00000136874ENST00000259400p.G240Rc.718G>CSubstitution - Missense
BLKENSG00000136573ENST00000259089p.?c.369-9G>AUnknown
DSTENSG00000151914ENST00000370765p.E29*c.85G>TSubstitution - Nonsense
ROS1ENSG00000047936ENST00000368508p.L2190Lc.6568C>TSubstitution - coding silent
ROS1ENSG00000047936ENST00000368507p.L2184Lc.6550C>TSubstitution - coding silent
STOX2ENSG00000173320ENST00000308497p.T839Nc.2516C>ASubstitution - Missense
DCHS2ENSG00000197410ENST00000357232p.L984Lc.2952A>GSubstitution - coding silent
DZIP1LENSG00000158163ENST00000327532p.S651Fc.1952C>TSubstitution - Missense
DZIP1LENSG00000158163ENST00000327532p.A190Vc.569C>TSubstitution - Missense
CEP63ENSG00000182923ENST00000337090p.Q422Ec.1264C>GSubstitution - Missense
CITENSG00000122966ENST00000261833p.S248_N249insSc.744_745insTCAInsertion - In frame
ATF6ENSG00000118217ENST00000367942p.S222Nc.665G>ASubstitution - Missense
ADAMTS8ENSG00000134917ENST00000257359p.L21_P22insLc.64_65insTGCInsertion - In frame
ADAMTS20ENSG00000173157ENST00000389420p.R1126Kc.3377G>ASubstitution - Missense
TP53ENSG00000141510ENST00000455263p.E204*c.610G>TSubstitution - Nonsense
TTNENSG00000155657ENST00000342992p.A18579Tc.55735G>ASubstitution - Missense
NM_003319p.A12082Tc.36244G>ASubstitution - Missense
AMBPENSG00000106927ENST00000265132p.E187Ec.561A>GSubstitution - coding silent
ENST00000540645p.E128Ec.384A>GSubstitution - coding silent
CRB2ENSG00000148204ENST00000359999p.S374Rc.1122T>GSubstitution - Missense
SLC2A8ENSG00000136856ENST00000423934p.S135Sc.405G>CSubstitution - coding silent
TRPA1ENSG00000104321ENST00000262209p.E223*c.667G>TSubstitution - Nonsense
PIEZO1ENSG00000103335ENST00000327397p.R258Qc.773G>ASubstitution - Missense
OR5M8ENSG00000181371ENST00000327216p.S263fs*11c.786delCDeletion - Frameshift
WHSC1ENSG00000109685ENST00000382891p.D560Hc.1678G>CSubstitution - Missense
WHSC1ENSG00000109685ENST00000382891p.?c.3621+7C>AUnknown
NISCHENSG00000010322ENST00000488380p.Q329Qc.987G>ASubstitution - coding silent
IL17RDENSG00000144730ENST00000427856p.R636Wc.1906C>TSubstitution - Missense
C3orf67ENSG00000163689ENST00000482387p.G104Gc.312A>GSubstitution - coding silent
NRXN1ENSG00000179915ENST00000402717p.A1413Ec.4238C>ASubstitution - Missense
C2orf16ENSG00000221843ENST00000408964p.S1765Rc.5295C>ASubstitution - Missense
ENST00000356127p.S7091Ac.21271T>GSubstitution - Missense
ITGAVENSG00000138448ENST00000433736p.?c.2913+9C>TUnknown
PLTPENSG00000100979ENST00000542937p.F24Lc.72C>ASubstitution - Missense
SLC25A23ENSG00000125648ENST00000334510p.P396Pc.1188G>ASubstitution - coding silent
VAV1ENSG00000141968ENST00000602142p.?c.2013-5T>CUnknown
DLGAP1ENSG00000170579ENST00000581527p.R403Qc.1208G>ASubstitution - Missense
RECQL5ENSG00000108469ENST00000317905p.D572Nc.1714G>ASubstitution - Missense
RAI1ENSG00000108557ENST00000261641p.S502Rc.1506C>GSubstitution - Missense
APOBRENSG00000184730ENST00000564831p.S1008Fc.3023C>TSubstitution - Missense
XM_031689.7p.D2606Yc.7816G>TSubstitution - Missense
NFATC4ENSG00000100968ENST00000556279p.S249Lc.746C>TSubstitution - Missense
NFATC4ENSG00000100968ENST00000555453p.S205Lc.614C>TSubstitution - Missense
RPGRIP1ENSG00000092200ENST00000206660p.E489Kc.1465G>ASubstitution - Missense
RPGRIP1ENSG00000092200ENST00000206660p.G917Vc.2750G>TSubstitution - Missense
RNF220ENSG00000187147ENST00000335497p.N53Nc.159C>TSubstitution - coding silent
GUK1ENSG00000143774ENST00000366728p.Y75*c.225C>ASubstitution - Nonsense
GUK1ENSG00000143774ENST00000366722p.Y54*c.162C>ASubstitution - Nonsense
NFASCENSG00000163531ENST00000367171p.S669Sc.2007C>TSubstitution - coding silent
KCNT2ENSG00000162687ENST00000367431p.R648Rc.1944A>GSubstitution - coding silent
MEF2DENSG00000116604ENST00000348159p.T259Pc.775A>CSubstitution - Missense
MEF2DENSG00000116604ENST00000340875p.T258Pc.772A>CSubstitution - Missense
CD244ENSG00000122223ENST00000368032p.I44Mc.132A>GSubstitution - Missense
MCF2LENSG00000126217ENST00000423482p.L253Fc.759G>CSubstitution - Missense
NUPL1ENSG00000139496ENST00000381736p.G31Ac.92G>CSubstitution - Missense
DCLK1ENSG00000133083ENST00000379892p.N315Nc.945T>CSubstitution - coding silent
AQP5ENSG00000161798ENST00000293599p.T139Pc.415A>CSubstitution - Missense
NR4A1ENSG00000123358ENST00000545748p.L80Lc.240G>TSubstitution - coding silent
OR8K3ENSG00000181689ENST00000312711p.S167Yc.500C>ASubstitution - Missense
OR52H1ENSG00000181616ENST00000322653p.D129Hc.385G>CSubstitution - Missense
ENST00000373120p.S112Fc.335C>TSubstitution - Missense
PPRC1ENSG00000148840ENST00000278070p.N1224Nc.3672C>TSubstitution - coding silent
DNMBPENSG00000107554ENST00000422692p.S61Cc.182C>GSubstitution - Missense
MYO16ENSG00000041515ENST00000251041p.S387Sc.1161C>TSubstitution - coding silent
MYT1LENSG00000186487ENST00000428368p.D198Nc.592G>ASubstitution - Missense
TP53ENSG00000141510ENST00000420246p.E204*c.610G>TSubstitution - Nonsense
MUTENSG00000146085ENST00000274813p.R31*c.91C>TSubstitution - Nonsense
ERCC8ENSG00000049167ENST00000265038p.Q326Hc.978G>CSubstitution - Missense
CPLX2ENSG00000145920ENST00000359546p.E114Kc.340G>ASubstitution - Missense
NOP16ENSG00000048162ENST00000389158p.Y130Cc.389A>GSubstitution - Missense
CDHR2ENSG00000074276ENST00000261944p.E1115Kc.3343G>ASubstitution - Missense
C3orf65ENSG00000163915ENST00000296270p.H66Yc.196C>TSubstitution - Missense
ENST00000296270_v68p.H66Yc.196C>TSubstitution - Missense
USP20ENSG00000136878ENST00000372429p.T258Tc.774G>ASubstitution - coding silent
APOBRENSG00000184730ENST00000328423p.S999Fc.2996C>TSubstitution - Missense
GOLGB1ENSG00000173230ENST00000340645p.A1295Gc.3884C>GSubstitution - Missense
MLPHENSG00000115648ENST00000264605p.?c.445+4A>GUnknown
SENP7ENSG00000138468ENST00000394095p.D578Hc.1732G>CSubstitution - Missense
IFNGR2ENSG00000159128ENST00000290219p.Q290Hc.870G>CSubstitution - Missense
MYOM2ENSG00000036448ENST00000262113p.V1376Mc.4126G>ASubstitution - Missense
LZTS1ENSG00000061337ENST00000381569p.K416Kc.1248G>ASubstitution - coding silent
MYH7BENSG00000078814ENST00000262873p.V981Gc.2942T>GSubstitution - Missense
MKLN1ENSG00000128585ENST00000352689p.D493Hc.1477G>CSubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.V3435Vc.10305G>TSubstitution - coding silent
RAB40ALENSG00000102128ENST00000218249p.G26Rc.76G>CSubstitution - Missense
KARSENSG00000065427ENST00000302445p.T56Tc.168C>GSubstitution - coding silent
MCF2LENSG00000126217ENST00000375608p.L285Fc.855G>CSubstitution - Missense
RBP3ENSG00000107618ENST00000224600p.P308Ac.922C>GSubstitution - Missense
CD244ENSG00000122223ENST00000368034p.I44Mc.132A>GSubstitution - Missense
ZNF641ENSG00000167528ENST00000448928p.R35Lc.104G>TSubstitution - Missense
NM_175736.3p.E892Kc.2674G>ASubstitution - Missense
ENST00000375815p.P96Lc.287C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.S7091Ac.21271T>GSubstitution - Missense
FZD6ENSG00000164930ENST00000522566p.T661Tc.1983T>CSubstitution - coding silent
WDR87ENSG00000171804ENST00000303868p.Q1458Ec.4372C>GSubstitution - Missense
STOX2ENSG00000173320ENST00000308497p.T863Nc.2588C>ASubstitution - Missense
OR13D1ENSG00000179055ENST00000318763p.G170Ec.509G>ASubstitution - Missense
FYCO1ENSG00000163820ENST00000296137p.R731Wc.2191A>TSubstitution - Missense
UPF1ENSG00000005007ENST00000262803p.P47Pc.141C>TSubstitution - coding silent
KCTD19ENSG00000168676ENST00000304372p.R124Kc.371G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.P23906Ac.71716C>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.E14230Dc.42690A>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.W19229*c.57687G>ASubstitution - Nonsense
NM_003319p.W19037*c.57111G>ASubstitution - Nonsense
MAP2ENSG00000078018ENST00000360351p.L578Fc.1734G>CSubstitution - Missense
REREENSG00000142599ENST00000400908p.D662Yc.1984G>TSubstitution - Missense
SYNMENSG00000182253ENST00000336292p.V1170Vc.3510G>ASubstitution - coding silent
DHRS4ENSG00000157326ENST00000313250p.G250Cc.748G>TSubstitution - Missense
VDRENSG00000111424ENST00000535672p.R89Qc.266G>ASubstitution - Missense
SLC4A10ENSG00000144290ENST00000375514p.E889*c.2665G>TSubstitution - Nonsense
KMT2EENSG00000005483ENST00000257745p.T1383Rc.4148C>GSubstitution - Missense
CUL1ENSG00000055130ENST00000409469p.Y228Cc.683A>GSubstitution - Missense
DSTENSG00000151914ENST00000244364p.E29*c.85G>TSubstitution - Nonsense
ARHGEF28ENSG00000214944ENST00000296794p.?c.1146+7C>GUnknown
SLC35F5ENSG00000115084ENST00000245680p.?c.921-5C>TUnknown
BCL6BENSG00000161940ENST00000293805p.S241_S244delSSSSc.702_713del12Deletion - In frame
TTNENSG00000155657ENST00000359218p.W19162*c.57486G>ASubstitution - Nonsense
EPHA3ENSG00000044524ENST00000336596p.L10Fc.28C>TSubstitution - Missense
KCNS3ENSG00000170745ENST00000304101p.T85Pc.253A>CSubstitution - Missense
CCDC141ENSG00000163492ENST00000420890p.D641Hc.1921G>CSubstitution - Missense
KIAA1551ENSG00000174718ENST00000312561p.K1349Nc.4047G>TSubstitution - Missense
ENST00000290575p.G374Ec.1121G>ASubstitution - Missense
AKAP3ENSG00000111254ENST00000228850p.R130Hc.389G>ASubstitution - Missense
KRT71ENSG00000139648ENST00000267119p.T160Tc.480C>GSubstitution - coding silent
ENST00000356127p.A18577Tc.55729G>ASubstitution - Missense
MARS2ENSG00000247626ENST00000282276p.R592Wc.1774C>TSubstitution - Missense
COBLENSG00000106078ENST00000395542p.G1034Rc.3100G>CSubstitution - Missense
DGCR2ENSG00000070413ENST00000545799p.R88Wc.262C>TSubstitution - Missense
UPF1ENSG00000005007ENST00000599848p.P47Pc.141C>TSubstitution - coding silent
PSG9ENSG00000183668ENST00000270077p.T100Ic.299C>TSubstitution - Missense
SIRT6ENSG00000077463ENST00000337491p.L197Pc.590T>CSubstitution - Missense
NM_024947.2p.D760Ec.2280C>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.A1461Ec.4382C>ASubstitution - Missense
ZNF668ENSG00000167394ENST00000394983p.A372Vc.1115C>TSubstitution - Missense
USP37ENSG00000135913ENST00000258399p.F946Lc.2838C>ASubstitution - Missense
NETO2ENSG00000171208ENST00000562435p.S402Sc.1206A>GSubstitution - coding silent
MCF2LENSG00000126217ENST00000375601p.L259Fc.777G>CSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.V2976Vc.8928C>TSubstitution - coding silent
TLR9ENSG00000239732ENST00000360658p.L610Lc.1830G>ASubstitution - coding silent
RAI1ENSG00000108557ENST00000353383p.S502Rc.1506C>GSubstitution - Missense
KARSENSG00000065427ENST00000319410p.T84Tc.252C>GSubstitution - coding silent
ZFYVE26ENSG00000072121ENST00000347230p.T799Tc.2397G>ASubstitution - coding silent
OR2T8ENSG00000177462ENST00000319968p.R232Cc.694C>TSubstitution - Missense
MUC2ENSG00000198788ENST00000359061p.A631Ac.1893C>TSubstitution - coding silent
VDRENSG00000111424ENST00000395324p.R121Qc.362G>ASubstitution - Missense
CAPZA3ENSG00000177938ENST00000317658p.R188Tc.563G>CSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.?c.668-5G>AUnknown
OR10A7ENSG00000179919ENST00000326258p.R89Wc.265A>TSubstitution - Missense
ZNF709ENSG00000242852ENST00000397732p.R464Qc.1391G>ASubstitution - Missense
MED12LENSG00000144893ENST00000309237p.P635Lc.1904C>TSubstitution - Missense
EIF4G1ENSG00000114867ENST00000319274p.H582Nc.1744C>ASubstitution - Missense
PRSS50ENSG00000206549ENST00000315170p.I156Ic.468C>ASubstitution - coding silent
LRP1BENSG00000168702ENST00000389484p.S4007Cc.12020C>GSubstitution - Missense
HDXENSG00000165259ENST00000297977p.W98*c.294G>ASubstitution - Nonsense
TBC1D10BENSG00000169221ENST00000409939p.R507Cc.1519C>TSubstitution - Missense
ARHGAP25ENSG00000163219ENST00000409220p.S527Ic.1580G>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.G2412Gc.7236T>ASubstitution - coding silent
SCARA3ENSG00000168077ENST00000301904p.P110Pc.330G>ASubstitution - coding silent
IL7RENSG00000168685ENST00000303115p.?c.801-10C>AUnknown
RPGRIP1ENSG00000092200ENST00000400017p.G917Vc.2750G>TSubstitution - Missense
NDUFA4L2ENSG00000185633ENST00000393825p.R12Wc.34C>TSubstitution - Missense
SLCO1A2ENSG00000084453ENST00000390670p.L399Lc.1197C>ASubstitution - coding silent
MYOZ1ENSG00000177791ENST00000359322p.V67Mc.199G>ASubstitution - Missense
KIRRELENSG00000183853ENST00000368173p.V302Vc.906A>GSubstitution - coding silent
TAS2R14ENSG00000212127ENST00000537503p.L143Lc.427T>CSubstitution - coding silent
RCBTB2ENSG00000136161ENST00000344532p.N151Dc.451A>GSubstitution - Missense
OAS1ENSG00000089127ENST00000445409p.R295Sc.885G>TSubstitution - Missense
CDC42BPAENSG00000143776ENST00000366766p.G1143Ec.3428G>ASubstitution - Missense
CLCNKBENSG00000184908ENST00000375679p.L387Lc.1161G>TSubstitution - coding silent
IL17RDENSG00000144730ENST00000320057p.R516Wc.1546C>TSubstitution - Missense
SNX15ENSG00000110025ENST00000377244p.L113Lc.339C>GSubstitution - coding silent
ENST00000414315p.E72*c.214G>TSubstitution - Nonsense
ERGENSG00000157554ENST00000288319p.G337Rc.1009G>ASubstitution - Missense
CEP63ENSG00000182923ENST00000354446p.Q376Ec.1126C>GSubstitution - Missense
WHSC1ENSG00000109685ENST00000382888p.?c.1665+7C>AUnknown
CYP4F11ENSG00000171903ENST00000248041p.R275Hc.824G>ASubstitution - Missense
HDAC9ENSG00000048052ENST00000441542p.E1066Ec.3198G>ASubstitution - coding silent
EPC2ENSG00000135999ENST00000258484p.I491Tc.1472T>CSubstitution - Missense
SLC4A10ENSG00000144290ENST00000446997p.E908*c.2722G>TSubstitution - Nonsense
ENST00000342288p.L138Fc.412C>TSubstitution - Missense
TRPV1ENSG00000196689ENST00000174621p.T707Mc.2120C>TSubstitution - Missense
THUMPD2ENSG00000138050ENST00000260619p.R385Pc.1154G>CSubstitution - Missense
ENSG00000167765ENST00000301439p.G181Gc.543G>CSubstitution - coding silent
ASCC2ENSG00000100325ENST00000397771p.Q646Ec.1936C>GSubstitution - Missense
TMPRSS11DENSG00000153802ENST00000283916p.A267Sc.799G>TSubstitution - Missense
PELP1ENSG00000141456ENST00000301396p.P828Pc.2484T>CSubstitution - coding silent
XM_031689.7p.D2606fs*3c.7816_7832del17Deletion - Frameshift
ENST00000369365_v71p.V3611Gc.10832T>GSubstitution - Missense
WDR66ENSG00000158023ENST00000288912p.S692Fc.2075C>TSubstitution - Missense
CD244ENSG00000122223ENST00000368033p.I44Mc.132A>GSubstitution - Missense
CDH24ENSG00000139880ENST00000487137p.E135fs*44c.400_401insCInsertion - Frameshift
NR4A1ENSG00000123358ENST00000360284p.L39Lc.117G>TSubstitution - coding silent
IL17RDENSG00000144730ENST00000296318p.R660Wc.1978C>TSubstitution - Missense
CSMD2ENSG00000121904ENST00000338325p.S183Fc.548C>TSubstitution - Missense
CDC42BPAENSG00000143776ENST00000366765p.G1121Ec.3362G>ASubstitution - Missense
SNX29ENSG00000048471ENST00000323433p.R246Qc.737G>ASubstitution - Missense
OR4C5ENSG00000176540ENST00000319813p.G117Vc.350G>TSubstitution - Missense
HDAC9ENSG00000048052ENST00000441542p.E1066Ec.3198G>ASubstitution - coding silent
MED26ENSG00000105085ENST00000263390p.V297Mc.889G>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000406316p.A1391Ec.4172C>ASubstitution - Missense
ROS1ENSG00000047936ENST00000368508p.Q1437Kc.4309C>ASubstitution - Missense
NSUN2ENSG00000037474ENST00000264670p.R220Cc.658C>TSubstitution - Missense
ENST00000356127p.P12112Ac.36334C>GSubstitution - Missense
ENST00000356127p.P23904Ac.71710C>GSubstitution - Missense
CDCA7ENSG00000144354ENST00000306721p.I201Mc.603A>GSubstitution - Missense
SPPL2CENSG00000185294ENST00000329196p.S566Ic.1697G>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.C6437Sc.19310G>CSubstitution - Missense
UACAENSG00000137831ENST00000322954p.T434Mc.1301C>TSubstitution - Missense
PARNENSG00000140694ENST00000437198p.S280Sc.840G>ASubstitution - coding silent
DCLK1ENSG00000133083ENST00000255448p.N315Nc.945T>CSubstitution - coding silent
FAM189A1ENSG00000104059ENST00000261275p.A503Ac.1509C>TSubstitution - coding silent
C11orf68ENSG00000175573ENST00000438576p.E194Kc.580G>ASubstitution - Missense
ITGBL1ENSG00000198542ENST00000376180p.G377Ac.1130G>CSubstitution - Missense
SEC31BENSG00000075826ENST00000370345p.V881Ic.2641G>ASubstitution - Missense
GUK1ENSG00000143774ENST00000366716p.Y54*c.162C>ASubstitution - Nonsense
NESENSG00000132688ENST00000368223p.Q408Kc.1222C>ASubstitution - Missense
COL4A1ENSG00000187498ENST00000375820p.P96Lc.287C>TSubstitution - Missense
OR52B6ENSG00000187747ENST00000345043p.S131Cc.392C>GSubstitution - Missense
ENST00000400460p.P7Sc.19C>TSubstitution - Missense
ZNF425ENSG00000204947ENST00000378061p.T732Mc.2195C>TSubstitution - Missense
PPP1R26ENSG00000196422ENST00000356818p.L571Lc.1713C>ASubstitution - coding silent
ZNF568ENSG00000198453ENST00000333987p.V404Lc.1210G>CSubstitution - Missense
SLC17A5ENSG00000119899ENST00000355773p.V459Mc.1375G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.P12112Ac.36334C>GSubstitution - Missense
MYO16ENSG00000041515ENST00000357550p.S387Sc.1161C>TSubstitution - coding silent
ATG2BENSG00000066739ENST00000359933p.E232Dc.696G>TSubstitution - Missense
NFASCENSG00000163531ENST00000360049p.S680Sc.2040C>TSubstitution - coding silent
ADAMTS20ENSG00000173157ENST00000389420p.R1126Kc.3377G>ASubstitution - Missense
TMEM117ENSG00000139173ENST00000266534p.G61Ec.182G>ASubstitution - Missense
ENSG00000116883ENST00000373137p.R30Cc.88C>TSubstitution - Missense
TEX36ENSG00000175018ENST00000368821p.R16Gc.46A>GSubstitution - Missense
OAS1ENSG00000089127ENST00000202917p.R295Sc.885G>TSubstitution - Missense
ZNF740ENSG00000139651ENST00000416904p.R146Cc.436C>TSubstitution - Missense
RCAN1ENSG00000159200ENST00000381135p.T237Mc.710C>TSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000553158p.R1126Kc.3377G>ASubstitution - Missense
OR10H4ENSG00000176231ENST00000322107p.P59Pc.177C>ASubstitution - coding silent
CPLX2ENSG00000145920ENST00000359546p.E114Kc.340G>ASubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.G2579Dc.7736G>ASubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.S2472Gc.7414A>GSubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.P511Qc.1532C>ASubstitution - Missense
ENST00000412250p.R447Wc.1339C>TSubstitution - Missense
PCDHB15ENSG00000113248ENST00000231173p.V123Vc.369G>ASubstitution - coding silent
NM_004440p.E884Ac.2651A>CSubstitution - Missense
ADAM11ENSG00000073670ENST00000200557p.L305Fc.913C>TSubstitution - Missense
DSTENSG00000151914ENST00000370765p.E29*c.85G>TSubstitution - Nonsense
ZNF813ENSG00000198346ENST00000396403p.K446fs*24c.1336_1421del86Deletion - Frameshift
PIEZO1ENSG00000103335ENST00000301015p.R2390Qc.7169G>ASubstitution - Missense
SCARA3ENSG00000168077ENST00000337221p.P110Pc.330G>ASubstitution - coding silent
CCDC141ENSG00000163492ENST00000343876p.D66Hc.196G>CSubstitution - Missense
UGT3A2ENSG00000168671ENST00000282507p.Q44Qc.132G>ASubstitution - coding silent
DNAH10ENSG00000197653ENST00000409039p.P2884Sc.8650C>TSubstitution - Missense
HFE2ENSG00000168509ENST00000336751p.E302Qc.904G>CSubstitution - Missense
ADAMTS8ENSG00000134917ENST00000257359p.L21_P22insLc.64_65insTGCInsertion - In frame
LRRTM3ENSG00000198739ENST00000361320p.E492Dc.1476G>TSubstitution - Missense
DNMBPENSG00000107554ENST00000342239p.S773Cc.2318C>GSubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.P3232Pc.9696G>ASubstitution - coding silent
IPO5ENSG00000065150ENST00000261574p.D189Hc.565G>CSubstitution - Missense
RBM34ENSG00000188739ENST00000408888p.R272Cc.814C>TSubstitution - Missense
NFATC4ENSG00000100968ENST00000413692p.S280Lc.839C>TSubstitution - Missense
SNX29ENSG00000048471ENST00000306030p.R246Qc.737G>ASubstitution - Missense
XKR6ENSG00000171044ENST00000416569p.A530Vc.1589C>TSubstitution - Missense
EPHA7ENSG00000135333ENST00000369303p.E884Ac.2651A>CSubstitution - Missense
CHD6ENSG00000124177ENST00000373233p.R2035Tc.6104G>CSubstitution - Missense
SIPA1L3ENSG00000105738ENST00000222345p.G435Rc.1303G>ASubstitution - Missense
NLE1ENSG00000073536ENST00000442241p.Y261*c.783C>GSubstitution - Nonsense
DZIP1LENSG00000158163ENST00000469243p.A190Vc.569C>TSubstitution - Missense
CCM2LENSG00000101331ENST00000262659p.A387Vc.1160C>TSubstitution - Missense
NSMAFENSG00000035681ENST00000427130p.?c.550-6C>TUnknown
SLC25A23ENSG00000125648ENST00000301454p.P396Pc.1188G>ASubstitution - coding silent
NCOR1ENSG00000141027ENST00000268712p.A148Pc.442G>CSubstitution - Missense
SPEF2ENSG00000152582ENST00000356031p.K442Ec.1324A>GSubstitution - Missense
GON4LENSG00000116580ENST00000361040p.S1093Cc.3278C>GSubstitution - Missense
CCNL2ENSG00000221978ENST00000400809p.R234Qc.701G>ASubstitution - Missense
XYLT1ENSG00000103489ENST00000261381p.H702Qc.2106T>GSubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.S575Fc.1724C>TSubstitution - Missense
PRRC2CENSG00000117523ENST00000392078p.I2389Ic.7167C>TSubstitution - coding silent
KRT83ENSG00000170523ENST00000293670p.S54Tc.161G>CSubstitution - Missense
CERS5ENSG00000139624ENST00000317551p.D351Nc.1051G>ASubstitution - Missense
NUP214ENSG00000126883ENST00000451030p.R855Qc.2564G>ASubstitution - Missense
APCENSG00000134982ENST00000457016p.Q1367*c.4099C>TSubstitution - Nonsense
SMAD4ENSG00000141646ENST00000342988p.D351Hc.1051G>CSubstitution - Missense
OR1L6ENSG00000171459ENST00000373684p.S130Sc.390C>TSubstitution - coding silent
TMEM165ENSG00000134851ENST00000381334p.T220Sc.658A>TSubstitution - Missense
MACC1ENSG00000183742ENST00000332878p.D231Dc.693C>TSubstitution - coding silent
GHDCENSG00000167925ENST00000301671p.T176Tc.528C>TSubstitution - coding silent
SARDHENSG00000123453ENST00000371872p.V826Vc.2478G>ASubstitution - coding silent
ZSCAN18ENSG00000121413ENST00000240727p.S349Sc.1047G>ASubstitution - coding silent
SPAG5ENSG00000076382ENST00000321765p.L497Lc.1489C>TSubstitution - coding silent
EFCAB5ENSG00000176927ENST00000394835p.H1160Hc.3480C>TSubstitution - coding silent
NSMAFENSG00000035681ENST00000038176p.?c.457-6C>TUnknown
GON4LENSG00000116580ENST00000437809p.S1093Cc.3278C>GSubstitution - Missense
ADAMTS17ENSG00000140470ENST00000268070p.G420Ac.1259G>CSubstitution - Missense
MIS18BP1ENSG00000129534ENST00000310806p.?c.3153-7C>TUnknown
DHX37ENSG00000150990ENST00000308736p.E257*c.769G>TSubstitution - Nonsense
ENST00000417177p.L1632Sc.4895T>CSubstitution - Missense
ENST00000312536p.E152Kc.454G>ASubstitution - Missense
FMNL3ENSG00000161791ENST00000335154p.E892Kc.2674G>ASubstitution - Missense
KIRRELENSG00000183853ENST00000359209p.V302Vc.906A>GSubstitution - coding silent
NABP2ENSG00000139579ENST00000267023p.I62Ic.186C>TSubstitution - coding silent
PCDH17ENSG00000118946ENST00000377918p.A31Ac.93C>TSubstitution - coding silent
APCDD1ENSG00000154856ENST00000355285p.E393Kc.1177G>ASubstitution - Missense
TP53ENSG00000141510ENST00000413465p.E204*c.610G>TSubstitution - Nonsense
F11ENSG00000088926ENST00000264692p.T127Tc.381G>ASubstitution - coding silent
MCF2LENSG00000126217ENST00000434480p.L261Fc.783G>CSubstitution - Missense
GIPC3ENSG00000179855ENST00000322315p.Q277*c.829C>TSubstitution - Nonsense
ERCC1ENSG00000012061ENST00000013807p.F231Lc.693C>GSubstitution - Missense
OGFRENSG00000060491ENST00000290291p.P646Lc.1937C>TSubstitution - Missense
ENST00000356127p.W25532*c.76596G>ASubstitution - Nonsense
DSC3ENSG00000134762ENST00000360428p.I577Rc.1730T>GSubstitution - Missense
AASSENSG00000008311ENST00000393376p.A871Tc.2611G>ASubstitution - Missense
ITIH1ENSG00000055957ENST00000273283p.?c.1225+6C>AUnknown
TMEM189ENSG00000240849ENST00000371652p.L64Lc.192C>GSubstitution - coding silent
ATG2BENSG00000066739ENST00000359933p.?c.3562-8C>AUnknown
RNF111ENSG00000157450ENST00000348370p.S267Cc.800C>GSubstitution - Missense
GON4LENSG00000116580ENST00000437809p.S1093Cc.3278C>GSubstitution - Missense
KCNT2ENSG00000162687ENST00000294725p.R698Rc.2094A>GSubstitution - coding silent
ANKRD35ENSG00000198483ENST00000355594p.K43Kc.129A>GSubstitution - coding silent
BACE1ENSG00000186318ENST00000313005p.D407Gc.1220A>GSubstitution - Missense
MUC2ENSG00000198788ENST00000441003p.A631Ac.1893C>TSubstitution - coding silent
GOLGA8MENSG00000188626ENST00000563027p.S553Fc.1658C>TSubstitution - Missense
NUMA1ENSG00000137497ENST00000393695p.G1461Gc.4383C>TSubstitution - coding silent
PABPC1LENSG00000101104ENST00000217073p.?c.1_193+842del1035Unknown
PPP1R16BENSG00000101445ENST00000299824p.H284Dc.850C>GSubstitution - Missense
DOCK4ENSG00000128512ENST00000437633p.L150Fc.448C>TSubstitution - Missense
LGI4ENSG00000153902ENST00000310123p.*538*c.1613G>ASubstitution - coding silent
NPY2RENSG00000185149ENST00000329476p.I194Ic.582C>ASubstitution - coding silent
ARHGEF28ENSG00000214944ENST00000545377p.?c.1146+7C>GUnknown
MARCOENSG00000019169ENST00000327097p.D84Yc.250G>TSubstitution - Missense
LPAENSG00000198670ENST00000316300p.R1283Rc.3847C>ASubstitution - coding silent
ENST00000356127p.E20600Dc.61800A>CSubstitution - Missense
ENST00000341213p.Y105Cc.314A>GSubstitution - Missense
PLTPENSG00000100979ENST00000372431p.F4Lc.12C>ASubstitution - Missense
SLC5A11ENSG00000158865ENST00000347898p.?c.1006+3G>AUnknown
PTRFENSG00000177469ENST00000357037p.N262Kc.786C>ASubstitution - Missense
STEAP4ENSG00000127954ENST00000380079p.D233Hc.697G>CSubstitution - Missense
BCL6BENSG00000161940ENST00000293805p.S241_S244delSSSSc.702_713del12Deletion - In frame
TTNENSG00000155657ENST00000342175p.P5807Ac.17419C>GSubstitution - Missense
NM_007332.1p.E223*c.667G>TSubstitution - Nonsense
GABPAENSG00000154727ENST00000354828p.R336Gc.1006C>GSubstitution - Missense
KIAA1549ENSG00000122778ENST00000422774p.G1278Gc.3834T>CSubstitution - coding silent
PXDNLENSG00000147485ENST00000356297p.N401Nc.1203C>TSubstitution - coding silent
NPEPPSENSG00000141279ENST00000322157p.?c.1095+8A>GUnknown
DDX10ENSG00000178105ENST00000322536p.R331Qc.992G>ASubstitution - Missense
RNF220ENSG00000187147ENST00000443020p.N98Nc.294C>TSubstitution - coding silent
ENST00000414575p.A100_G101insAc.296_297insTGCInsertion - In frame
GPR83ENSG00000123901ENST00000243673p.T121Tc.363G>ASubstitution - coding silent
ENST00000361282p.L320Lc.960G>CSubstitution - coding silent
SLCO1A2ENSG00000084453ENST00000307378p.L401Lc.1203C>ASubstitution - coding silent
NFE2ENSG00000123405ENST00000312156p.G39Ac.116G>CSubstitution - Missense
FOXD4ENSG00000170122ENST00000382500p.E38_E39insVEEEc.115_116ins12Insertion - In frame
C2orf16ENSG00000221843ENST00000408964p.S1765Rc.5295C>ASubstitution - Missense
CLCNKBENSG00000184908ENST00000375667p.L218Lc.654G>TSubstitution - coding silent
XM_031689.7p.F2611Yc.7832T>ASubstitution - Missense
SLC4A10ENSG00000144290ENST00000415876p.E878*c.2632G>TSubstitution - Nonsense
ROS1ENSG00000047936ENST00000368507p.Q1431Kc.4291C>ASubstitution - Missense
UPF1ENSG00000005007ENST00000262803p.P48Sc.142C>TSubstitution - Missense
DACT3ENSG00000197380ENST00000391916p.K606Kc.1818A>GSubstitution - coding silent
NM_012294.2p.L22Fc.64C>TSubstitution - Missense
MALENSG00000172005ENST00000309988p.F117Fc.351C>TSubstitution - coding silent
DSC3ENSG00000134762ENST00000434452p.I577Rc.1730T>GSubstitution - Missense
PSAPENSG00000197746ENST00000394936p.S112Fc.335C>TSubstitution - Missense
DPYSL4ENSG00000151640ENST00000338492p.S147Rc.441C>ASubstitution - Missense
CDC42BPAENSG00000143776ENST00000366769p.G1108Ec.3323G>ASubstitution - Missense
PLXNA2ENSG00000076356ENST00000367033p.R484Wc.1450C>TSubstitution - Missense
NM_207305.1p.E38_E39insVEEEc.115_116ins12Insertion - In frame
DNM1ENSG00000106976ENST00000486160p.?c.1196+4C>TUnknown
WHSC1ENSG00000109685ENST00000503128p.D560Hc.1678G>CSubstitution - Missense
NFASCENSG00000163531ENST00000367172p.S684Sc.2052C>TSubstitution - coding silent
CRB2ENSG00000148204ENST00000373631p.S374Rc.1122T>GSubstitution - Missense
ENST00000274705p.P186Sc.556C>TSubstitution - Missense
PCDHB3ENSG00000113205ENST00000231130p.P245Lc.734C>TSubstitution - Missense
ANKHD1ENSG00000131503ENST00000297183p.T1954Ic.5861C>TSubstitution - Missense
KRT15ENSG00000171346ENST00000393976p.F89_G96delFGGGFGGGc.261_284del24Deletion - In frame
DACT3ENSG00000197380ENST00000300875p.K381Kc.1143A>GSubstitution - coding silent
SMARCAD1ENSG00000163104ENST00000354268p.E237Ec.711G>ASubstitution - coding silent
ANKMY1ENSG00000144504ENST00000361678p.T468Tc.1404C>TSubstitution - coding silent
NISCHENSG00000010322ENST00000345716p.Q329Qc.987G>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.R13599Qc.40796G>ASubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.S1716Cc.5147C>GSubstitution - Missense
ENST00000344648p.R529Rc.1585A>CSubstitution - coding silent
RFX7ENSG00000181827ENST00000317318p.?c.228-9G>AUnknown
KIF18AENSG00000121621ENST00000263181p.D557Yc.1669G>TSubstitution - Missense
ABCC4ENSG00000125257ENST00000376887p.R879Qc.2636G>ASubstitution - Missense
METTL25ENSG00000127720ENST00000248306p.R495Wc.1483C>TSubstitution - Missense
HRH2ENSG00000113749ENST00000231683p.A253Vc.758C>TSubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.R1213Qc.3638G>ASubstitution - Missense
DLGAP1ENSG00000170579ENST00000581699p.R109Qc.326G>ASubstitution - Missense
UPF1ENSG00000005007ENST00000599848p.P48Sc.142C>TSubstitution - Missense
OPN5ENSG00000124818ENST00000371211p.V198Gc.593T>GSubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.G2579Dc.7736G>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.A1461Ec.4382C>ASubstitution - Missense
RHBDD2ENSG00000005486ENST00000318622p.D74Nc.220G>ASubstitution - Missense
PDZD2ENSG00000133401ENST00000282493p.S421Sc.1263C>TSubstitution - coding silent
ANKMY1ENSG00000144504ENST00000391987p.T609Tc.1827C>TSubstitution - 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