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CRO-AP2 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1060 mutations reported
404 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
DCLRE1CENSG00000152457ENST00000378246p.E512Kc.1534G>ASubstitution - Missense
NOS1APENSG00000198929ENST00000361897p.R56Hc.167G>ASubstitution - Missense
MCOLN3ENSG00000055732ENST00000370589p.R19Cc.55C>TSubstitution - Missense
GLYR1ENSG00000140632ENST00000321919p.I351Ic.1053C>TSubstitution - coding silent
ARHGEF10LENSG00000074964ENST00000361221p.R1232Cc.3694C>TSubstitution - Missense
ARHGEF10LENSG00000074964ENST00000361221p.R1232Cc.3694C>TSubstitution - Missense
MAP3K13ENSG00000073803ENST00000424227p.V324Vc.972G>CSubstitution - coding silent
MAP3K13ENSG00000073803ENST00000424227p.V324Vc.972G>CSubstitution - coding silent
POLR2CENSG00000102978ENST00000219252p.S216Sc.648G>ASubstitution - coding silent
ABCB5ENSG00000004846ENST00000258738p.E698Kc.2092G>ASubstitution - Missense
KIAA1324LENSG00000164659ENST00000297222p.K134Qc.400A>CSubstitution - Missense
CACNA1BENSG00000148408ENST00000371372p.L320Lc.960C>GSubstitution - coding silent
TSPAN9ENSG00000011105ENST00000011898p.I214Ic.642C>TSubstitution - coding silent
MTMR1ENSG00000063601ENST00000370390p.Y412*c.1236T>ASubstitution - Nonsense
MTMR1ENSG00000063601ENST00000451863p.Y412*c.1236T>ASubstitution - Nonsense
CSMD3ENSG00000164796ENST00000297405p.G3382fs*15c.10137_10138insAInsertion - Frameshift
NINENSG00000100503ENST00000245441p.A1755Vc.5264C>TSubstitution - Missense
NOP14ENSG00000087269ENST00000314262p.E527Kc.1579G>ASubstitution - Missense
ENST00000395215p.T59Sc.176C>GSubstitution - Missense
FBXO22ENSG00000167196ENST00000453211p.R86Hc.257G>ASubstitution - Missense
HOXC10ENSG00000180818ENST00000303460p.T201Tc.603C>TSubstitution - coding silent
ITGB7ENSG00000139626ENST00000422257p.R509Wc.1525C>TSubstitution - Missense
ENST00000202788p.E391Gc.1172A>GSubstitution - Missense
NM_005830.2p.S85*c.254C>GSubstitution - Nonsense
PEAK1ENSG00000173517ENST00000312493p.E1415Kc.4243G>ASubstitution - Missense
CSPG4ENSG00000173546ENST00000308508p.D187Dc.561T>CSubstitution - coding silent
CDC42BPAENSG00000143776ENST00000334218p.S1687*c.5060C>GSubstitution - Nonsense
CDC42BPAENSG00000143776ENST00000366766p.S1660*c.4979C>GSubstitution - Nonsense
CDC42BPAENSG00000143776ENST00000366767p.S1544*c.4631C>GSubstitution - Nonsense
DNAH14ENSG00000185842ENST00000430092p.H1226Hc.3678T>CSubstitution - coding silent
DIP2CENSG00000151240ENST00000280886p.F969Fc.2907C>TSubstitution - coding silent
COL11A1ENSG00000060718ENST00000358392p.R1374Qc.4121G>ASubstitution - Missense
LRP4ENSG00000134569ENST00000378623p.F416Fc.1248C>TSubstitution - coding silent
EXT2ENSG00000151348ENST00000533608p.E589Kc.1765G>ASubstitution - Missense
TMEM218ENSG00000150433ENST00000279968p.V20Lc.58G>CSubstitution - Missense
ROBO4ENSG00000154133ENST00000306534p.T826fs*48c.2475delCDeletion - Frameshift
ROBO4ENSG00000154133ENST00000306534p.F284Fc.852C>TSubstitution - coding silent
OR8B12ENSG00000170953ENST00000306842p.M150Tc.449T>CSubstitution - Missense
E2F7ENSG00000165891ENST00000322886p.L759Lc.2277C>TSubstitution - coding silent
E2F7ENSG00000165891ENST00000322886p.L759Lc.2277C>TSubstitution - coding silent
VWFENSG00000110799ENST00000261405p.?c.7987-4C>TUnknown
ENST00000328408p.E8Gc.23A>GSubstitution - Missense
RHBGENSG00000132677ENST00000368249p.R425fs*>18c.1264_1265insCInsertion - Frameshift
RHBGENSG00000132677ENST00000368246p.?c.1263+1_1263+2insCUnknown
RHBGENSG00000132677ENST00000400992p.R393fs*>18c.1168_1169insCInsertion - Frameshift
DDX23ENSG00000174243ENST00000308025p.L446Lc.1338C>TSubstitution - coding silent
RECQLENSG00000004700ENST00000444129p.C414Yc.1241G>ASubstitution - Missense
SLCO1A2ENSG00000084453ENST00000307378p.?c.911-3C>TUnknown
DISC1ENSG00000162946ENST00000366633p.S79Wc.236C>GSubstitution - Missense
DISC1ENSG00000162946ENST00000366633p.S274Cc.821C>GSubstitution - Missense
DISC1ENSG00000162946ENST00000317586p.S274Cc.821C>GSubstitution - Missense
SU_OBSCN.1p.E5156Kc.15466G>ASubstitution - Missense
ATP2B1ENSG00000070961ENST00000359142p.V686Vc.2058G>ASubstitution - coding silent
ALX1ENSG00000180318ENST00000316824p.R136Qc.407G>ASubstitution - Missense
MYO7AENSG00000137474ENST00000409709p.G1782Gc.5346C>TSubstitution - coding silent
RPS3ENSG00000149273ENST00000531188p.V181Vc.543G>TSubstitution - coding silent
FAM86C1ENSG00000158483ENST00000426628p.K68Mc.203A>TSubstitution - Missense
SLC28A1ENSG00000156222ENST00000286749p.L219Lc.657C>GSubstitution - coding silent
TM6SF1ENSG00000136404ENST00000322019p.L336fs*>36c.1000_1001insTInsertion - Frameshift
RIPK3ENSG00000129465ENST00000216274p.K50Qc.148A>CSubstitution - Missense
TTC5ENSG00000136319ENST00000258821p.?c.639+2_639+3insTUnknown
PLD4ENSG00000166428ENST00000392593p.V68Mc.202G>ASubstitution - Missense
ADSSL1ENSG00000185100ENST00000332972p.R381Hc.1142G>ASubstitution - Missense
KNDC1ENSG00000171798ENST00000304613p.S416Sc.1248C>TSubstitution - coding silent
WNK1ENSG00000060237ENST00000537687p.A1846Sc.5536G>TSubstitution - Missense
NM_018979p.A1586Sc.4756G>TSubstitution - Missense
PPFIA1ENSG00000131626ENST00000253925p.?c.2164-3C>TUnknown
SSH3ENSG00000172830ENST00000308127p.?c.1409+7G>AUnknown
PHRF1ENSG00000070047ENST00000416188p.R423Kc.1268G>ASubstitution - Missense
SCYL2ENSG00000136021ENST00000360820p.N309fs*20c.923_924insAInsertion - Frameshift
MTMR2ENSG00000087053ENST00000352297p.?c.46+1_47-1del3234Unknown
PSDENSG00000059915ENST00000020673p.?c.757+6G>CUnknown
SEMA4GENSG00000095539ENST00000210633p.E148Kc.442G>ASubstitution - Missense
KIF26BENSG00000162849ENST00000407071p.K19Tc.56A>CSubstitution - Missense
KIF26BENSG00000162849ENST00000407071p.K19Tc.56A>CSubstitution - Missense
DARS2ENSG00000117593ENST00000361951p.?c.1129-1G>AUnknown
FMO6PENSG00000117507ENST00000236166p.R33Gc.97A>GSubstitution - Missense
SLC46A3ENSG00000139508ENST00000380814p.W198*c.594G>ASubstitution - Nonsense
SLC46A3ENSG00000139508ENST00000266943p.W198*c.594G>ASubstitution - Nonsense
ATP8A2ENSG00000132932ENST00000381655p.I679Vc.2035A>GSubstitution - Missense
RNF6ENSG00000127870ENST00000346166p.S230*c.689C>GSubstitution - Nonsense
COL2A1ENSG00000139219ENST00000380518p.N1417Sc.4250A>GSubstitution - Missense
OPCMLENSG00000183715ENST00000524381p.L331Vc.991T>GSubstitution - Missense
SNX19ENSG00000120451ENST00000265909p.K718Kc.2154G>ASubstitution - coding silent
NR1I3ENSG00000143257ENST00000367983p.M80Ic.240G>ASubstitution - Missense
COPAENSG00000122218ENST00000241704p.A861Gc.2582C>GSubstitution - Missense
PEX19ENSG00000162735ENST00000368072p.G293Ac.878G>CSubstitution - Missense
NPAP1ENSG00000185823ENST00000329468p.P440Rc.1319C>GSubstitution - Missense
DLGAP3ENSG00000116544ENST00000373347p.S409Ac.1225T>GSubstitution - Missense
LRRC23ENSG00000010626ENST00000323702p.E150Kc.448G>ASubstitution - Missense
CACNA1EENSG00000198216ENST00000367573p.E1156Gc.3467A>GSubstitution - Missense
TDRD5ENSG00000162782ENST00000367614p.R916Cc.2746C>TSubstitution - Missense
KCNJ11ENSG00000187486ENST00000339994p.I283Ic.849C>TSubstitution - coding silent
FDX1ENSG00000137714ENST00000260270p.E107Kc.319G>ASubstitution - Missense
EIF4G2ENSG00000110321ENST00000339995p.K463Nc.1389G>CSubstitution - Missense
C11orf65ENSG00000166323ENST00000393084p.E58Kc.172G>ASubstitution - Missense
NM_002426.1p.N296Kc.888T>ASubstitution - Missense
SIDT2ENSG00000149577ENST00000324225p.F766Fc.2298C>TSubstitution - coding silent
F13BENSG00000143278ENST00000367412p.P83Sc.247C>TSubstitution - Missense
ENST00000378596p.Q284Hc.852G>CSubstitution - Missense
CD44ENSG00000026508ENST00000428726p.G698Gc.2094A>GSubstitution - coding silent
PAPLNENSG00000100767ENST00000340738p.D193Nc.577G>ASubstitution - Missense
PAPLNENSG00000100767ENST00000427855p.D193Nc.577G>ASubstitution - Missense
RGS6ENSG00000182732ENST00000553525p.V25Gc.74T>GSubstitution - Missense
MASTLENSG00000120539ENST00000375946p.E780Kc.2338G>ASubstitution - Missense
KIAA1217ENSG00000120549ENST00000430453p.K433Qc.1297A>CSubstitution - Missense
PTF1AENSG00000168267ENST00000376504p.N320Kc.960C>ASubstitution - Missense
NOXO1ENSG00000196408ENST00000356120p.?c.586+7C>GUnknown
PCDH15ENSG00000150275ENST00000395438p.A1359Ec.4076C>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.A1364Ec.4091C>ASubstitution - Missense
FRMPD2ENSG00000170324ENST00000374201p.L745Fc.2233C>TSubstitution - Missense
ENST00000399953_v65p.R284Wc.850C>TSubstitution - Missense
IRF2BPLENSG00000119669ENST00000238647p.G635Dc.1904G>ASubstitution - Missense
C14orf166BENSG00000100565ENST00000393774p.L214Lc.642G>ASubstitution - coding silent
CAP1ENSG00000131236ENST00000372792p.P148Pc.444C>GSubstitution - coding silent
EHBP1L1ENSG00000173442ENST00000309295p.S914Pc.2740T>CSubstitution - Missense
SLC22A11ENSG00000168065ENST00000301891p.F354Fc.1062C>TSubstitution - coding silent
SLC22A11ENSG00000168065ENST00000301891p.R372Hc.1115G>ASubstitution - Missense
RUFY2ENSG00000204130ENST00000388768p.E24Kc.70G>ASubstitution - Missense
NRBF2ENSG00000148572ENST00000277746p.A39Ac.117A>CSubstitution - coding silent
PI4KBENSG00000143393ENST00000368875p.L253Lc.759C>TSubstitution - coding silent
PHGDHENSG00000092621ENST00000369409p.V95Vc.285T>CSubstitution - coding silent
WARS2ENSG00000116874ENST00000235521p.?c.430-5C>TUnknown
WARS2ENSG00000116874ENST00000369426p.?c.430-5C>TUnknown
C1orf167ENSG00000215910ENST00000312793p.?c.494-6C>TUnknown
CD58ENSG00000116815ENST00000369489p.E67Kc.199G>ASubstitution - Missense
NM_015906p.E1093Kc.3277G>ASubstitution - Missense
TPCN1ENSG00000186815ENST00000550785p.A857Vc.2570C>TSubstitution - Missense
TPCN1ENSG00000186815ENST00000335509p.A785Vc.2354C>TSubstitution - Missense
MRPL37ENSG00000116221ENST00000360840p.S241Cc.722C>GSubstitution - Missense
VPS39ENSG00000166887ENST00000318006p.P591Pc.1773T>GSubstitution - coding silent
SPTBN5ENSG00000137877ENST00000320955p.E1550Kc.4648G>ASubstitution - Missense
FLGENSG00000143631ENST00000368799p.A2427Sc.7279G>TSubstitution - Missense
TCHHENSG00000159450ENST00000368804p.L507Vc.1519C>GSubstitution - Missense
SYT10ENSG00000110975ENST00000228567p.I231Ic.693C>TSubstitution - coding silent
PKP2ENSG00000057294ENST00000070846p.R441Wc.1321C>TSubstitution - Missense
FRMD6ENSG00000139926ENST00000395718p.D531Nc.1591G>ASubstitution - Missense
PRCPENSG00000137509ENST00000393399p.V305Lc.913G>TSubstitution - Missense
PM20D1ENSG00000162877ENST00000367136p.E301Kc.901G>ASubstitution - Missense
SLC26A9ENSG00000174502ENST00000367134p.V675Mc.2023G>ASubstitution - Missense
SLC26A9ENSG00000174502ENST00000367135p.V675Mc.2023G>ASubstitution - Missense
RHCEENSG00000188672ENST00000294413p.S284*c.851C>ASubstitution - Nonsense
PDE4DIPENSG00000178104ENST00000369354p.T946Ac.2836A>GSubstitution - Missense
DUSP16ENSG00000111266ENST00000228862p.R208Hc.623G>ASubstitution - Missense
ENST00000280576p.R836*c.2506C>TSubstitution - Nonsense
SYNE2ENSG00000054654ENST00000358025p.E2639Qc.7915G>CSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.C1399Yc.4196G>ASubstitution - Missense
SLC38A6ENSG00000139974ENST00000354886p.R420Kc.1259G>ASubstitution - Missense
DAAM1ENSG00000100592ENST00000351081p.R330Mc.989G>TSubstitution - Missense
DAAM1ENSG00000100592ENST00000351081p.S1038Lc.3113C>TSubstitution - Missense
L3HYPDHENSG00000126790ENST00000247194p.?c.508+5T>GUnknown
WDHD1ENSG00000198554ENST00000360586p.G453Ec.1358G>ASubstitution - Missense
PKN2ENSG00000065243ENST00000370521p.E221Qc.661G>CSubstitution - Missense
PKN2ENSG00000065243ENST00000316005p.E221Qc.661G>CSubstitution - Missense
PKN2ENSG00000065243ENST00000316005p.S21Gc.61A>GSubstitution - Missense
PRKACBENSG00000142875ENST00000370685p.R328Kc.983G>ASubstitution - Missense
PRKACBENSG00000142875ENST00000370689p.R281Kc.842G>ASubstitution - Missense
CACHD1ENSG00000158966ENST00000290039p.?c.1388-10C>TUnknown
TACSTD2ENSG00000184292ENST00000371225p.S142Nc.425G>ASubstitution - Missense
BCAR3ENSG00000137936ENST00000370247p.A10Sc.28G>TSubstitution - Missense
RBMXL1ENSG00000213516ENST00000321792p.P105Sc.313C>TSubstitution - Missense
DPP8ENSG00000074603ENST00000300141p.?c.260-9C>GUnknown
LGMNENSG00000100600ENST00000334869p.?c.1259+2T>GUnknown
IRX1ENSG00000170549ENST00000302006p.R389Rc.1167C>TSubstitution - coding silent
TYRO3ENSG00000092445ENST00000263798p.?c.1754-7G>TUnknown
NM_006293p.?c.1730-7G>TUnknown
LTKENSG00000062524ENST00000263800p.R682Wc.2044C>TSubstitution - Missense
LTKENSG00000062524ENST00000355166p.R621Wc.1861C>TSubstitution - Missense
SACSENSG00000151835ENST00000382298p.T1826Tc.5478A>GSubstitution - coding silent
NM_014363.3p.T1679Tc.5037A>GSubstitution - coding silent
MPHOSPH8ENSG00000196199ENST00000361479p.F766Fc.2298C>TSubstitution - coding silent
MPHOSPH8ENSG00000196199ENST00000414242p.F766Fc.2298C>TSubstitution - coding silent
ADAD2ENSG00000140955ENST00000268624p.L644Fc.1930C>TSubstitution - Missense
PKD1L2ENSG00000166473ENST00000337114p.Q925Qc.2775G>ASubstitution - coding silent
ENST00000360678p.Q240Qc.720G>ASubstitution - coding silent
CNTNAP4ENSG00000152910ENST00000478060p.E284Ec.852G>ASubstitution - coding silent
ENST00000339740p.E284Ec.852G>ASubstitution - coding silent
CNTNAP4ENSG00000152910ENST00000307431p.E308Ec.924G>ASubstitution - coding silent
RRBP1ENSG00000125844ENST00000377813p.R1365Hc.4094G>ASubstitution - Missense
DCXENSG00000077279ENST00000338081p.M51Vc.151A>GSubstitution - Missense
ENST00000354677p.Q55*c.163C>TSubstitution - Nonsense
FASTKD2ENSG00000118246ENST00000236980p.I262Mc.786C>GSubstitution - Missense
NRP2ENSG00000118257ENST00000272849p.?c.74-1G>AUnknown
SU_WNK2p.Q1067Qc.3201G>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.R13875Kc.41624G>ASubstitution - Missense
MBD3L3ENSG00000182315ENST00000333843p.V135Vc.405G>ASubstitution - coding silent
VAV1ENSG00000141968ENST00000304076p.I720Ic.2160C>TSubstitution - coding silent
MLLT1ENSG00000130382ENST00000252674p.?c.1552-1G>AUnknown
SLC5A10ENSG00000154025ENST00000395647p.I315Tc.944T>CSubstitution - Missense
LGALS9CENSG00000171916ENST00000328114p.P163fs*113c.482_483insGGTGInsertion - Frameshift
MID1ENSG00000101871ENST00000453318p.P441Sc.1321C>TSubstitution - Missense
NXF3ENSG00000147206ENST00000395065p.G359Ec.1076G>ASubstitution - Missense
TMEM35ENSG00000126950ENST00000372930p.S3Yc.8C>ASubstitution - Missense
ENST00000326989p.S48Lc.143C>TSubstitution - Missense
ENST00000359032_v68p.T205Tc.615G>ASubstitution - coding silent
AP2A1ENSG00000196961ENST00000359032p.T205Tc.615G>ASubstitution - coding silent
TEAD2ENSG00000074219ENST00000311227p.R291Cc.871C>TSubstitution - Missense
WDR88ENSG00000166359ENST00000355868p.R441Qc.1322G>ASubstitution - Missense
RHPN2ENSG00000131941ENST00000254260p.A427Ac.1281C>ASubstitution - coding silent
ZNF726ENSG00000213967ENST00000322487p.?c.130+6G>AUnknown
PLXNA4ENSG00000221866ENST00000321063p.G1104Gc.3312T>GSubstitution - coding silent
NRF1ENSG00000106459ENST00000223190p.N470Nc.1410C>TSubstitution - coding silent
TNPO3ENSG00000064419ENST00000265388p.V149Vc.447G>ASubstitution - coding silent
TNPO3ENSG00000064419ENST00000393245p.V149Vc.447G>ASubstitution - coding silent
TNPO3ENSG00000064419ENST00000265388p.?c.120+3G>AUnknown
FLNCENSG00000128591ENST00000325888p.E149Kc.445G>ASubstitution - Missense
EPB41L1ENSG00000088367ENST00000338074p.?c.177+10C>TUnknown
GGT7ENSG00000131067ENST00000336431p.E615Qc.1843G>CSubstitution - Missense
PRKCDENSG00000163932ENST00000394729p.V363Ac.1088T>CSubstitution - Missense
GLIS3ENSG00000107249ENST00000381971p.K649Kc.1947G>ASubstitution - coding silent
GLIS3ENSG00000107249ENST00000324333p.K494Kc.1482G>ASubstitution - coding silent
VCPENSG00000165280ENST00000358901p.?c.576+2T>GUnknown
TAF1LENSG00000122728ENST00000242310p.F202Fc.606C>TSubstitution - coding silent
MATN2ENSG00000132561ENST00000520016p.F222Fc.666C>TSubstitution - coding silent
PLEKHF2ENSG00000175895ENST00000315367p.Q77*c.229C>TSubstitution - Nonsense
NBNENSG00000104320ENST00000265433p.D201Hc.601G>CSubstitution - Missense
THOC7ENSG00000163634ENST00000295899p.T56Tc.168G>ASubstitution - coding silent
CADPSENSG00000163618ENST00000283269p.K533Nc.1599G>TSubstitution - Missense
PER1ENSG00000179094ENST00000317276p.D1211Nc.3631G>ASubstitution - Missense
SUPT6HENSG00000109111ENST00000314616p.G1506Ec.4517G>ASubstitution - Missense
ENSG00000214167ENST00000375684p.E15Kc.43G>ASubstitution - Missense
CSHL1ENSG00000204414ENST00000561003p.V77Vc.231G>ASubstitution - coding silent
ZNF878ENSG00000257446ENST00000547628p.E504Kc.1510G>ASubstitution - Missense
ZNF878ENSG00000257446ENST00000602107p.E551Kc.1651G>ASubstitution - Missense
PIK3C3ENSG00000078142ENST00000262039p.Y236Dc.706T>GSubstitution - Missense
GCENSG00000145321ENST00000504199p.H300Rc.899A>GSubstitution - Missense
GCENSG00000145321ENST00000273951p.H281Rc.842A>GSubstitution - Missense
MOB1BENSG00000173542ENST00000309395p.E200Kc.598G>ASubstitution - Missense
SLC4A4ENSG00000080493ENST00000425175p.E266Kc.796G>ASubstitution - Missense
SLC4A4ENSG00000080493ENST00000340595p.E222Kc.664G>ASubstitution - Missense
YTHDC1ENSG00000083896ENST00000344157p.S289Lc.866C>TSubstitution - Missense
ROBO2ENSG00000185008ENST00000461745p.S1139Fc.3416C>TSubstitution - Missense
PPP4R2ENSG00000163605ENST00000356692p.Q41*c.121C>TSubstitution - Nonsense
YWHAQENSG00000134308ENST00000238081p.S45Fc.134C>TSubstitution - Missense
KRTAP4-5ENSG00000198271ENST00000343246p.Q27Kc.79C>ASubstitution - Missense
P2RX1ENSG00000108405ENST00000225538p.F12Fc.36C>TSubstitution - coding silent
MLLT6ENSG00000108292ENST00000325718p.?c.2010-4G>AUnknown
N4BP1ENSG00000102921ENST00000262384p.P812Sc.2434C>TSubstitution - Missense
SHROOM3ENSG00000138771ENST00000296043p.Q532Qc.1596G>ASubstitution - coding silent
CORINENSG00000145244ENST00000273857p.C991fs*13c.2972delGDeletion - Frameshift
GABRG1ENSG00000163285ENST00000295452p.Q276Hc.828G>CSubstitution - Missense
STX18ENSG00000168818ENST00000306200p.K163Nc.489G>CSubstitution - Missense
OTOP1ENSG00000163982ENST00000296358p.W558Cc.1674G>CSubstitution - Missense
NSUN7ENSG00000179299ENST00000381782p.Q482*c.1444C>TSubstitution - Nonsense
KLF3ENSG00000109787ENST00000261438p.P102Sc.304C>TSubstitution - Missense
NM_022740p.C472Cc.1416T>CSubstitution - coding silent
ETV1ENSG00000006468ENST00000403527p.M362Ic.1086G>ASubstitution - Missense
HIST1H1CENSG00000187837ENST00000343677p.R79Lc.236G>TSubstitution - Missense
LRRC16AENSG00000079691ENST00000377969p.V144Ic.430G>ASubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.L2102Lc.6306G>ASubstitution - coding silent
ENST00000273600p.Q2689Qc.8067G>ASubstitution - coding silent
RAD54L2ENSG00000164080ENST00000409535p.G1163Gc.3489G>TSubstitution - coding silent
RBM6ENSG00000004534ENST00000266022p.L394Hc.1181T>ASubstitution - Missense
MTUS1ENSG00000129422ENST00000262102p.Q1201Rc.3602A>GSubstitution - Missense
EPPK1ENSG00000227184ENST00000525985p.R1297Kc.3890G>ASubstitution - Missense
EPHB6ENSG00000106123ENST00000392957p.M293Vc.877A>GSubstitution - Missense
PIEZO2ENSG00000154864ENST00000302079p.R1048Wc.3142C>TSubstitution - Missense
EPG5ENSG00000152223ENST00000282041p.L2011Lc.6031C>TSubstitution - coding silent
CA1ENSG00000133742ENST00000523953p.L252Lc.756G>ASubstitution - coding silent
EYA1ENSG00000104313ENST00000388740p.L2Fc.6G>TSubstitution - Missense
CLDN5ENSG00000184113ENST00000406028p.V162Mc.484G>ASubstitution - Missense
DEFB115ENSG00000215547ENST00000400552p.S16Pc.46T>CSubstitution - Missense
RAPH1ENSG00000173166ENST00000319170p.T127Tc.381A>GSubstitution - coding silent
CYP20A1ENSG00000119004ENST00000356079p.P163Pc.489C>GSubstitution - coding silent
DNAH7ENSG00000118997ENST00000312428p.S3210Fc.9629C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.M9641Ic.28923G>TSubstitution - Missense
PIEZO1ENSG00000103335ENST00000301015p.S1996Sc.5988A>GSubstitution - coding silent
GPT2ENSG00000166123ENST00000340124p.S398Yc.1193C>ASubstitution - Missense
MYH15ENSG00000144821ENST00000273353p.E1764*c.5290G>TSubstitution - Nonsense
ZNRF4ENSG00000105428ENST00000222033p.D373Yc.1117G>TSubstitution - Missense
ZNF160ENSG00000170949ENST00000429604p.E709Kc.2125G>ASubstitution - Missense
ZNF600ENSG00000189190ENST00000338230p.R649Cc.1945C>TSubstitution - Missense
ZNF175ENSG00000105497ENST00000262259p.F36Fc.108C>TSubstitution - coding silent
MYH1ENSG00000109061ENST00000226207p.?c.349-3C>AUnknown
MYH8ENSG00000133020ENST00000403437p.K1224Tc.3671A>CSubstitution - Missense
MC1RENSG00000258839ENST00000555147p.V38Gc.113T>GSubstitution - Missense
ENST00000405167p.V1769Ac.5306T>CSubstitution - Missense
IFT172ENSG00000138002ENST00000260570p.I701Ic.2103C>ASubstitution - coding silent
IFT172ENSG00000138002ENST00000260570p.L328Lc.984G>ASubstitution - coding silent
RNF212ENSG00000178222ENST00000333673p.E211Ec.633G>ASubstitution - coding silent
SLC39A8ENSG00000138821ENST00000356736p.Q244*c.730C>TSubstitution - Nonsense
OR5K4ENSG00000196098ENST00000354924p.A116Ec.347C>ASubstitution - Missense
MFI2ENSG00000163975ENST00000296351p.E178Kc.532G>ASubstitution - Missense
NM_014501.1p.P188Lc.563C>TSubstitution - Missense
OTCENSG00000036473ENST00000039007p.I160Ic.480C>TSubstitution - coding silent
CSMD1ENSG00000183117ENST00000537824p.F201Vc.601T>GSubstitution - Missense
MFSD9ENSG00000135953ENST00000258436p.T253Sc.758C>GSubstitution - Missense
ZSCAN22ENSG00000182318ENST00000329665p.V481Ic.1441G>ASubstitution - Missense
ZNF417ENSG00000173480ENST00000312026p.Q483Qc.1449G>ASubstitution - coding silent
ZNF154ENSG00000179909ENST00000512439p.T51Tc.153C>ASubstitution - coding silent
CDH3ENSG00000062038ENST00000264012p.R274Wc.820C>TSubstitution - Missense
SLC12A7ENSG00000113504ENST00000264930p.I580Ic.1740C>ASubstitution - coding silent
BMPR1BENSG00000138696ENST00000515059p.I130Tc.389T>CSubstitution - Missense
NKTRENSG00000114857ENST00000232978p.S792Pc.2374T>CSubstitution - Missense
ZNF619ENSG00000177873ENST00000447116p.G278Vc.833G>TSubstitution - Missense
ZNF619ENSG00000177873ENST00000314686p.G222Vc.665G>TSubstitution - Missense
SCN11AENSG00000168356ENST00000302328p.I141Mc.423C>GSubstitution - Missense
SLC22A14ENSG00000144671ENST00000273173p.P560Sc.1678C>TSubstitution - Missense
DLEC1ENSG00000008226ENST00000308059p.R1666Pc.4997G>CSubstitution - Missense
DLEC1ENSG00000008226ENST00000346219p.R1666Pc.4997G>CSubstitution - Missense
KIAA1109ENSG00000138688ENST00000264501p.P1059Hc.3176C>ASubstitution - Missense
NDST3ENSG00000164100ENST00000296499p.Q784Qc.2352G>ASubstitution - coding silent
NR2C2ENSG00000177463ENST00000323373p.P522Sc.1564C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.?c.22191+7G>AUnknown
SYNE1ENSG00000131018ENST00000423061p.?c.21978+7G>AUnknown
SYNE1ENSG00000131018ENST00000265368p.E8188Kc.24562G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.E8117Kc.24349G>ASubstitution - Missense
ECT2LENSG00000203734ENST00000367682p.L706Lc.2118G>ASubstitution - coding silent
BMXENSG00000102010ENST00000357607p.F606Fc.1818C>TSubstitution - coding silent
STEAP4ENSG00000127954ENST00000380079p.P226fs*24c.677delCDeletion - Frameshift
RUNDC3BENSG00000105784ENST00000338056p.?c.123-9T>CUnknown
SEMA3AENSG00000075213ENST00000265362p.H678Nc.2032C>ASubstitution - Missense
UPK3BENSG00000243566ENST00000257632p.T161Mc.482C>TSubstitution - Missense
COL4A4ENSG00000081052ENST00000396625p.P476Sc.1426C>TSubstitution - Missense
RESP18ENSG00000182698ENST00000333527p.T27Sc.80C>GSubstitution - Missense
SLC11A1ENSG00000018280ENST00000233202p.A442Ac.1326C>TSubstitution - coding silent
IL1RAPL1ENSG00000169306ENST00000378993p.D574Nc.1720G>ASubstitution - Missense
RUVBL1ENSG00000175792ENST00000322623p.F93Vc.277T>GSubstitution - Missense
PCBP1ENSG00000169564ENST00000303577p.D203Nc.607G>ASubstitution - Missense
USP34ENSG00000115464ENST00000398571p.L655Mc.1963C>ASubstitution - Missense
CLHC1ENSG00000162994ENST00000407122p.K229Rc.686A>GSubstitution - Missense
UGT1A3ENSG00000243135ENST00000482026p.M405Tc.1214T>CSubstitution - Missense
UGT1A8ENSG00000241635ENST00000305208p.M404Tc.1211T>CSubstitution - Missense
UGT1A6ENSG00000167165ENST00000305139p.M403Tc.1208T>CSubstitution - Missense
UGT1A9ENSG00000241119ENST00000354728p.M401Tc.1202T>CSubstitution - Missense
UGT1A7ENSG00000244122ENST00000373426p.M401Tc.1202T>CSubstitution - Missense
ADCY2ENSG00000078295ENST00000338316p.S36Cc.107C>GSubstitution - Missense
RRP7AENSG00000189306ENST00000323013p.V197Dc.590T>ASubstitution - Missense
IRF4ENSG00000137265ENST00000380956p.E108Qc.322G>CSubstitution - Missense
MAPK13ENSG00000156711ENST00000211287p.Y132Cc.395A>GSubstitution - Missense
MAPK13ENSG00000156711ENST00000211287p.Y132Cc.395A>GSubstitution - Missense
PDE8BENSG00000113231ENST00000264917p.Q642Kc.1924C>ASubstitution - Missense
MAGT1ENSG00000102158ENST00000358075p.E71Kc.211G>ASubstitution - Missense
NM_032121.3p.E39Kc.115G>ASubstitution - Missense
NHSL2ENSG00000204131ENST00000540800p.A564Tc.1690G>ASubstitution - Missense
XM_291321.3p.A195Tc.583G>ASubstitution - Missense
CCDC9ENSG00000105321ENST00000221922p.?c.721-7G>AUnknown
VASPENSG00000125753ENST00000245932p.P166Pc.498C>GSubstitution - coding silent
NCANENSG00000130287ENST00000252575p.E641Kc.1921G>ASubstitution - Missense
NPHP3ENSG00000113971ENST00000337331p.D166Hc.496G>CSubstitution - Missense
SLC15A2ENSG00000163406ENST00000489711p.?c.2013+7A>GUnknown
ABHD10ENSG00000144827ENST00000273359p.H232Rc.695A>GSubstitution - Missense
ATP6V0CENSG00000185883ENST00000330398p.M53Ic.159G>ASubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.D1694Hc.5080G>CSubstitution - Missense
CSNK1G3ENSG00000151292ENST00000395411p.N157Dc.469A>GSubstitution - Missense
SLIT2ENSG00000145147ENST00000504154p.D1001Nc.3001G>ASubstitution - Missense
KIAA1430ENSG00000164323ENST00000458385p.V124Lc.370G>TSubstitution - Missense
KIAA1430ENSG00000164323ENST00000296775p.V124Lc.370G>TSubstitution - Missense
GRIA2ENSG00000120251ENST00000264426p.K172Nc.516A>TSubstitution - Missense
GUCY1B3ENSG00000061918ENST00000264424p.H176Hc.528T>CSubstitution - coding silent
HHIPENSG00000164161ENST00000296575p.L131Lc.393G>ASubstitution - coding silent
HHIPENSG00000164161ENST00000434550p.L131Lc.393G>ASubstitution - coding silent
HHIPENSG00000164161ENST00000296575p.I208Ic.624C>TSubstitution - coding silent
NM_003866.1p.L162Lc.484T>CSubstitution - coding silent
NM_001184p.E1260Qc.3778G>CSubstitution - Missense
PPP2R3AENSG00000073711ENST00000334546p.E262Kc.784G>ASubstitution - Missense
PQLC1ENSG00000122490ENST00000397778p.L223Lc.669G>ASubstitution - coding silent
DACH2ENSG00000126733ENST00000373125p.P212Pc.636G>ASubstitution - coding silent
DACH2ENSG00000126733ENST00000373131p.P199Pc.597G>ASubstitution - coding silent
SIM1ENSG00000112246ENST00000262901p.H323Rc.968A>GSubstitution - Missense
LNPEPENSG00000113441ENST00000231368p.R904Qc.2711G>ASubstitution - Missense
SEMA5AENSG00000112902ENST00000382496p.T856Sc.2566A>TSubstitution - Missense
COLEC10ENSG00000184374ENST00000332843p.D197Vc.590A>TSubstitution - Missense
DSTENSG00000151914ENST00000370765p.S211Fc.632C>TSubstitution - Missense
DSTENSG00000151914ENST00000370769p.S537Fc.1610C>TSubstitution - Missense
DSTENSG00000151914ENST00000370769p.K6706Nc.20118G>CSubstitution - Missense
TSPYL1ENSG00000189241ENST00000368608p.V7Vc.21C>TSubstitution - coding silent
NEDD9ENSG00000111859ENST00000379446p.V158Vc.474G>TSubstitution - coding silent
NEDD9ENSG00000111859ENST00000379446p.V158Vc.474G>TSubstitution - coding silent
CEP57L1ENSG00000183137ENST00000359793p.L129Lc.385C>TSubstitution - coding silent
POLR2FENSG00000100142ENST00000333418p.S69Cc.206C>GSubstitution - Missense
BACH2ENSG00000112182ENST00000257749p.A529Ac.1587G>ASubstitution - coding silent
BACH2ENSG00000112182ENST00000257749p.A529Ac.1587G>ASubstitution - coding silent
RNGTTENSG00000111880ENST00000369485p.?c.279-4C>TUnknown
ZNF292ENSG00000188994ENST00000369577p.T1526Tc.4578G>ASubstitution - coding silent
ELOVL4ENSG00000118402ENST00000369816p.M283_A288delMNGISAc.846_863del18Deletion - In frame
C6orf58ENSG00000184530ENST00000329722p.E35Kc.103G>ASubstitution - Missense
HINT3ENSG00000111911ENST00000229633p.?c.517-9T>CUnknown
MUSKENSG00000030304ENST00000374448p.S484Cc.1451C>GSubstitution - Missense
FSHRENSG00000170820ENST00000406846p.L108Lc.324G>TSubstitution - coding silent
PPP1R21ENSG00000162869ENST00000294952p.L250Lc.750G>ASubstitution - coding silent
MSH2ENSG00000095002ENST00000233146p.Q718Qc.2154A>GSubstitution - coding silent
ABCG8ENSG00000143921ENST00000272286p.F280Sc.839T>CSubstitution - Missense
ATL2ENSG00000119787ENST00000419554p.A8Pc.22G>CSubstitution - Missense
CDC42EP3ENSG00000163171ENST00000295324p.D169Nc.505G>ASubstitution - Missense
SIENSG00000090402ENST00000264382p.V717Dc.2150T>ASubstitution - Missense
OTOL1ENSG00000182447ENST00000327928p.D425Hc.1273G>CSubstitution - Missense
HKR1ENSG00000181666ENST00000324411p.R349Rc.1047G>ASubstitution - coding silent
ZNF585AENSG00000196967ENST00000392157p.T322Ic.965C>TSubstitution - Missense
ZNF345ENSG00000251247ENST00000420450p.A234Pc.700G>CSubstitution - Missense
WDR62ENSG00000075702ENST00000270301p.S737Tc.2210G>CSubstitution - Missense
C17orf47ENSG00000181013ENST00000321691p.P178Lc.533C>TSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.V871Vc.2613G>ASubstitution - coding silent
RALGDSENSG00000160271ENST00000372062p.L878Lc.2634C>TSubstitution - coding silent
GTF3C4ENSG00000125484ENST00000372146p.R662Cc.1984C>TSubstitution - Missense
RAPGEF1ENSG00000107263ENST00000372190p.S676Sc.2028G>ASubstitution - coding silent
SCGB3A2ENSG00000164265ENST00000296694p.L29fs*21c.82delCDeletion - Frameshift
SLITRK2ENSG00000185985ENST00000447897p.E728Kc.2182G>ASubstitution - Missense
MCF2ENSG00000101977ENST00000519895p.R824Kc.2471G>ASubstitution - Missense
MCF2ENSG00000101977ENST00000370573p.R748Kc.2243G>ASubstitution - Missense
MCF2ENSG00000101977ENST00000370578p.R893Kc.2678G>ASubstitution - Missense
SLC9A6ENSG00000198689ENST00000370695p.P552Tc.1654C>ASubstitution - Missense
GLI3ENSG00000106571ENST00000395925p.?c.1648-3C>TUnknown
CDK13ENSG00000065883ENST00000181839p.Q1486Qc.4458A>GSubstitution - coding silent
EGR1ENSG00000120738ENST00000239938p.D18Ac.53A>CSubstitution - Missense
PLXNB3ENSG00000198753ENST00000361971p.T1517Tc.4551G>ASubstitution - coding silent
PRRC2AENSG00000204469ENST00000376033p.P511Pc.1533A>TSubstitution - coding silent
ENST00000539307p.A33Sc.97G>TSubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.L119Fc.355C>TSubstitution - Missense
ENST00000539307p.L156Fc.466C>TSubstitution - Missense
MUC21ENSG00000204544ENST00000376296p.A162Vc.485C>TSubstitution - Missense
ATAT1ENSG00000137343ENST00000376483p.R110Cc.328C>TSubstitution - Missense
HLA-AENSG00000206503ENST00000396634p.?c.619+3A>CUnknown
HIST1H1BENSG00000184357ENST00000331442p.A20Pc.58G>CSubstitution - Missense
HIST1H4LENSG00000198558ENST00000355981p.V88Lc.262G>CSubstitution - Missense
VPS13BENSG00000132549ENST00000357162p.?c.4949+10G>AUnknown
RBAKENSG00000146587ENST00000396912p.E648Ec.1944G>ASubstitution - coding silent
ENST00000319379p.D1619Nc.4855G>ASubstitution - Missense
IGFBP1ENSG00000146678ENST00000275525p.W172*c.516G>ASubstitution - Nonsense
ASIC3ENSG00000213199ENST00000349064p.?c.686-6C>GUnknown
EEF2KENSG00000103319ENST00000263026p.R331Wc.991C>TSubstitution - Missense
ZP2ENSG00000103310ENST00000219593p.A18Ac.54A>CSubstitution - coding silent
HYDINENSG00000157423ENST00000321489p.A198Vc.593C>TSubstitution - Missense
HYDINENSG00000157423ENST00000393550p.A198Vc.593C>TSubstitution - Missense
HYDINENSG00000157423ENST00000288168p.A215Vc.644C>TSubstitution - Missense
OXR1ENSG00000164830ENST00000312046p.E501Qc.1501G>CSubstitution - Missense
IRGCENSG00000124449ENST00000244314p.A286Ac.858G>ASubstitution - coding silent
XM_375550.2p.Q761Ec.2281C>GSubstitution - Missense
SIN3BENSG00000127511ENST00000379803p.P752Pc.2256G>ASubstitution - coding silent
CASP14ENSG00000105141ENST00000427043p.M1Ic.3G>ASubstitution - Missense
ZNF333ENSG00000160961ENST00000292530p.?c.224-2A>GUnknown
CENPCENSG00000145241ENST00000273853p.K746Kc.2238A>GSubstitution - coding silent
CLOCKENSG00000134852ENST00000381322p.G24Ec.71G>ASubstitution - Missense
NEBENSG00000183091ENST00000397345p.A8271Vc.24812C>TSubstitution - Missense
NEBENSG00000183091ENST00000409198p.A6415Vc.19244C>TSubstitution - Missense
MTSS1ENSG00000170873ENST00000518547p.G578Ec.1733G>ASubstitution - Missense
IGLL5ENSG00000254709ENST00000526893p.G160Rc.478G>ASubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.E1728Kc.5182G>ASubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.A1910Tc.5728G>ASubstitution - Missense
LAMC3ENSG00000050555ENST00000361069p.A1388Dc.4163C>ASubstitution - Missense
SPTAN1ENSG00000197694ENST00000372739p.F1774Fc.5322C>TSubstitution - coding silent
SLC27A4ENSG00000167114ENST00000300456p.P212Lc.635C>TSubstitution - Missense
GPR144ENSG00000180264ENST00000334810p.A933Ac.2799T>CSubstitution - coding silent
TNFSF15ENSG00000181634ENST00000374045p.E3*c.7G>TSubstitution - Nonsense
TNFSF8ENSG00000106952ENST00000223795p.Q144Rc.431A>GSubstitution - Missense
C9orf43ENSG00000157653ENST00000374165p.I326Tc.977T>CSubstitution - Missense
KIAA0947ENSG00000164151ENST00000296564p.E1391Kc.4171G>ASubstitution - Missense
NPM1ENSG00000181163ENST00000393820p.P220Lc.659C>TSubstitution - Missense
CDKN2AIPENSG00000168564ENST00000504169p.R68Gc.202C>GSubstitution - Missense
TMEM129ENSG00000168936ENST00000382936p.V145Vc.435C>GSubstitution - coding silent
NPY5RENSG00000164129ENST00000338566p.E253Kc.757G>ASubstitution - Missense
MASP1ENSG00000127241ENST00000296280p.D230Dc.690C>TSubstitution - coding silent
SLC35B2ENSG00000157593ENST00000393812p.L407Lc.1221C>TSubstitution - coding silent
SLC39A7ENSG00000112473ENST00000444757p.?c.141+4A>GUnknown
TNXBENSG00000168477ENST00000375244p.V3221Vc.9663G>CSubstitution - coding silent
CYP21A2ENSG00000231852ENST00000418967p.I161Tc.482T>CSubstitution - Missense
ZBTB12ENSG00000204366ENST00000375527p.E448Kc.1342G>ASubstitution - Missense
MSH5ENSG00000204410ENST00000375742p.N276Dc.826A>GSubstitution - Missense
CDH23ENSG00000107736ENST00000299366p.R857Cc.2569C>TSubstitution - Missense
CDH23ENSG00000107736ENST00000442677p.R371Cc.1111C>TSubstitution - Missense
NRBF2ENSG00000148572ENST00000435510p.A29Ac.87A>CSubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000393061p.V980Vc.2940G>ASubstitution - coding silent
MTSS1ENSG00000170873ENST00000378017p.G553Ec.1658G>ASubstitution - Missense
CRISP3ENSG00000096006ENST00000433368p.?c.38-1G>AUnknown
ENST00000266505_v70p.V326Vc.978A>TSubstitution - coding silent
FAM101AENSG00000178882ENST00000389727p.E156Gc.467A>GSubstitution - Missense
OR10AG1ENSG00000174970ENST00000312345p.V290Mc.868G>ASubstitution - Missense
SIDT2ENSG00000149577ENST00000278951p.F787Fc.2361C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369351p.T946Ac.2836A>GSubstitution - Missense
PHGDHENSG00000092621ENST00000369407p.V61Vc.183T>CSubstitution - coding silent
DENND2CENSG00000175984ENST00000393274p.?c.1370-1G>CUnknown
MRPS31ENSG00000102738ENST00000323563p.S85*c.254C>GSubstitution - Nonsense
RAB3IPENSG00000127328ENST00000378815p.S247Fc.740C>TSubstitution - Missense
FAM186BENSG00000135436ENST00000544141p.Y619Cc.1856A>GSubstitution - Missense
DPP8ENSG00000074603ENST00000341861p.?c.308-9C>GUnknown
VPS39ENSG00000166887ENST00000348544p.P602Pc.1806T>GSubstitution - coding silent
MACF1ENSG00000127603ENST00000317713p.Q994*c.2980C>TSubstitution - Nonsense
RHCEENSG00000188672ENST00000374352p.S268*c.803C>ASubstitution - Nonsense
CDC42BPAENSG00000143776ENST00000366765p.S1638*c.4913C>GSubstitution - Nonsense
MIA3ENSG00000154305ENST00000340535p.E190Kc.568G>ASubstitution - Missense
GTPBP3ENSG00000130299ENST00000361619p.L61Lc.183A>TSubstitution - coding silent
CYTH1ENSG00000108669ENST00000446868p.I161Ic.483C>TSubstitution - coding silent
NBR1ENSG00000188554ENST00000389312p.E778Kc.2332G>ASubstitution - Missense
SEZ6ENSG00000063015ENST00000360295p.?c.1771+8G>AUnknown
PKD1L2ENSG00000166473ENST00000527937p.Q181Qc.543G>ASubstitution - coding silent
SLC12A4ENSG00000124067ENST00000537830p.L370Lc.1110C>TSubstitution - coding silent
SLC12A4ENSG00000124067ENST00000541864p.L345Lc.1035C>TSubstitution - coding silent
TOX3ENSG00000103460ENST00000407228p.S202Lc.605C>TSubstitution - Missense
ENST00000359129p.V14Ic.40G>ASubstitution - Missense
TPOENSG00000115705ENST00000337415p.?c.95-9G>AUnknown
RTFDC1ENSG00000022277ENST00000357348p.R161Rc.483A>GSubstitution - coding silent
VAV1ENSG00000141968ENST00000602142p.I720Ic.2160C>TSubstitution - coding silent
ZNF717ENSG00000227124ENST00000400845p.T551fs*6c.1649_1818del170Deletion - Frameshift
KLHL5ENSG00000109790ENST00000359687p.T192Ac.574A>GSubstitution - Missense
KLHL5ENSG00000109790ENST00000381930p.T192Ac.574A>GSubstitution - Missense
NOP14ENSG00000087269ENST00000398071p.E527Kc.1579G>ASubstitution - Missense
INPP4BENSG00000109452ENST00000513000p.L162Lc.484T>CSubstitution - coding silent
CLASP2ENSG00000163539ENST00000480013p.S634Lc.1901C>TSubstitution - Missense
MAP3K13ENSG00000073803ENST00000535426p.V180Vc.540G>CSubstitution - coding silent
SCN1AENSG00000144285ENST00000423058p.R690Kc.2069G>ASubstitution - Missense
ATAT1ENSG00000137343ENST00000329992p.R110Cc.328C>TSubstitution - Missense
ENST00000377993p.R441Wc.1321C>TSubstitution - Missense
JARID2ENSG00000008083ENST00000541660p.E818Ec.2454G>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000341594p.E7800Kc.23398G>ASubstitution - Missense
EPM2AENSG00000112425ENST00000435470p.G160Gc.480C>TSubstitution - coding silent
BMPR1BENSG00000138696ENST00000440890p.I160Tc.479T>CSubstitution - Missense
MTUS1ENSG00000129422ENST00000400046p.Q273Rc.818A>GSubstitution - Missense
EPPK1ENSG00000227184ENST00000525985p.G638Sc.1912G>ASubstitution - Missense
CACNA2D1ENSG00000153956ENST00000356253p.L1077Fc.3231A>TSubstitution - Missense
HIPK2ENSG00000064393ENST00000342645p.C472Cc.1416T>CSubstitution - coding silent
AGBL3ENSG00000146856ENST00000458078p.R293Wc.877C>TSubstitution - Missense
NRF1ENSG00000106459ENST00000393231p.N489Nc.1467C>TSubstitution - coding silent
RNGTTENSG00000111880ENST00000369475p.?c.279-4C>TUnknown
NOS1APENSG00000198929ENST00000361897p.R56Hc.167G>ASubstitution - Missense
PRUNE2ENSG00000106772ENST00000376717p.?c.626+7G>AUnknown
PRUNE2ENSG00000106772ENST00000424866p.?c.350+7G>AUnknown
ADAMTSL2ENSG00000197859ENST00000393061p.H656Hc.1968C>TSubstitution - coding silent
RALGDSENSG00000160271ENST00000393157p.L906Lc.2718C>TSubstitution - coding silent
AP2A2ENSG00000183020ENST00000448903p.D187Nc.559G>ASubstitution - Missense
KRTAP5-7ENSG00000244411ENST00000398536p.S69Sc.207C>TSubstitution - coding silent
MORN1ENSG00000116151ENST00000378531p.D158Nc.472G>ASubstitution - Missense
PLCE1ENSG00000138193ENST00000371375p.L1477Lc.4431G>ASubstitution - coding silent
DDOSTENSG00000244038ENST00000375048p.E453Kc.1357G>ASubstitution - Missense
COL11A1ENSG00000060718ENST00000370096p.R1362Qc.4085G>ASubstitution - Missense
LMO7ENSG00000136153ENST00000465261p.I111Ic.333T>ASubstitution - coding silent
ST5ENSG00000166444ENST00000534127p.L300Lc.900C>TSubstitution - coding silent
SLC39A12ENSG00000148482ENST00000377374p.S292Fc.875C>TSubstitution - Missense
ANO3ENSG00000134343ENST00000256737p.E367Kc.1099G>ASubstitution - Missense
MYCBPENSG00000214114ENST00000397572p.K84Ec.250A>GSubstitution - Missense
NCR3LG1ENSG00000188211ENST00000338965p.E363Qc.1087G>CSubstitution - Missense
ROBO2ENSG00000185008ENST00000487694p.S1155Fc.3464C>TSubstitution - Missense
DUSP2ENSG00000158050ENST00000288943p.E225Ac.674A>CSubstitution - Missense
TSKSENSG00000126467ENST00000246801p.P33Lc.98C>TSubstitution - Missense
FBN3ENSG00000142449ENST00000270509p.E2671Kc.8011G>ASubstitution - Missense
MSLNLENSG00000162006ENST00000293892p.L900Lc.2698C>TSubstitution - coding silent
JARID2ENSG00000008083ENST00000341776p.E856Ec.2568G>ASubstitution - coding silent
RAB11FIP1ENSG00000156675ENST00000330843p.S1126Fc.3377C>TSubstitution - Missense
TECPR1ENSG00000205356ENST00000379795p.P1067Pc.3201G>ASubstitution - coding silent
C9orf116ENSG00000160345ENST00000429260p.V70Mc.208G>ASubstitution - Missense
NBR1ENSG00000188554ENST00000422280p.E778Kc.2332G>ASubstitution - Missense
SPATA31E1ENSG00000177992ENST00000325643p.H1387Qc.4161C>GSubstitution - Missense
ENST00000409867_v68p.R48Gc.142C>GSubstitution - Missense
UGT1A8ENSG00000241635ENST00000373450p.M401Tc.1202T>CSubstitution - Missense
OBSL1ENSG00000124006ENST00000373873p.K1007Kc.3021G>ASubstitution - coding silent
ENST00000345013p.M24Ic.72G>TSubstitution - Missense
OR51J1ENSG00000184321ENST00000332043p.M167Tc.500T>CSubstitution - Missense
CYTIPENSG00000115165ENST00000264192p.L195Lc.583C>TSubstitution - coding silent
MCF2ENSG00000101977ENST00000370576p.R748Kc.2243G>ASubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.D1674Nc.5020G>ASubstitution - Missense
ENST00000312046_v70p.E582Qc.1744G>CSubstitution - Missense
TMEM179BENSG00000185475ENST00000333449p.L180Lc.540G>ASubstitution - coding silent
SLCO1A2ENSG00000084453ENST00000390670p.I320Mc.960A>GSubstitution - Missense
ENST00000428907p.E391Gc.1172A>GSubstitution - Missense
SYT9ENSG00000170743ENST00000318881p.R153Cc.457C>TSubstitution - Missense
NRP2ENSG00000118257ENST00000540841p.?c.74-1G>AUnknown
ZNF326ENSG00000162664ENST00000340281p.R110*c.328C>TSubstitution - Nonsense
DNAH10ENSG00000197653ENST00000409039p.R2244*c.6730C>TSubstitution - Nonsense
ENST00000417177p.A1364Ec.4091C>ASubstitution - Missense
PTPN2ENSG00000175354ENST00000309660p.T93Tc.279A>GSubstitution - coding silent
DNAH1ENSG00000114841ENST00000420323p.Q2689Qc.8067G>ASubstitution - coding silent
SLC17A1ENSG00000124568ENST00000244527p.A38Vc.113C>TSubstitution - Missense
N4BP1ENSG00000102921ENST00000262384p.P859Sc.2575C>TSubstitution - Missense
CARD14ENSG00000141527ENST00000573882p.E669Gc.2006A>GSubstitution - Missense
CADPSENSG00000163618ENST00000383710p.K533Nc.1599G>TSubstitution - Missense
SCUBE1ENSG00000159307ENST00000290460p.H175Hc.525C>TSubstitution - coding silent
DMTF1ENSG00000135164ENST00000394703p.N222Nc.666C>TSubstitution - coding silent
ENST00000381114p.S1305Fc.3914C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.E8188Kc.24562G>ASubstitution - Missense
CLASP2ENSG00000163539ENST00000539981p.S624Lc.1871C>TSubstitution - Missense
DKK2ENSG00000155011ENST00000285311p.?c.530-6C>TUnknown
COL5A1ENSG00000130635ENST00000371817p.P1494Pc.4482G>ASubstitution - coding silent
RALGDSENSG00000160271ENST00000542690p.L978Lc.2934C>TSubstitution - coding silent
LRPPRCENSG00000138095ENST00000260665p.R303Cc.907C>TSubstitution - Missense
MAB21L2ENSG00000181541ENST00000317605p.V203Ic.607G>ASubstitution - Missense
FBN2ENSG00000138829ENST00000508053p.D1694Hc.5080G>CSubstitution - Missense
LNPEPENSG00000113441ENST00000231368p.P174Pc.522A>GSubstitution - coding silent
C6orf222ENSG00000189325ENST00000437635p.H58Rc.173A>GSubstitution - Missense
POLKENSG00000122008ENST00000241436p.L559Lc.1675C>TSubstitution - coding silent
SLC45A3ENSG00000158715ENST00000367145p.R486Wc.1456C>TSubstitution - Missense
MORN1ENSG00000116151ENST00000449373p.A108Ac.324G>ASubstitution - coding silent
KNDC1ENSG00000171798ENST00000368572p.S416Sc.1248C>TSubstitution - coding silent
HSPA5ENSG00000044574ENST00000324460p.Q372*c.1114C>TSubstitution - Nonsense
PXDNENSG00000130508ENST00000252804p.P384Pc.1152A>GSubstitution - coding silent
PKD1ENSG00000008710ENST00000262304p.A1202Ac.3606C>TSubstitution - coding silent
LRP1BENSG00000168702ENST00000389484p.L207*c.620T>GSubstitution - Nonsense
TNFRSF1AENSG00000067182ENST00000162749p.L359Lc.1075C>TSubstitution - coding silent
PEAK1ENSG00000173517ENST00000312493p.E1415Kc.4243G>ASubstitution - Missense
OPCMLENSG00000183715ENST00000331898p.R214Rc.642G>ASubstitution - coding silent
NINENSG00000100503ENST00000382041p.A1755Vc.5264C>TSubstitution - Missense
RAPGEF1ENSG00000107263ENST00000372195p.S675Sc.2025G>ASubstitution - coding silent
PODNENSG00000174348ENST00000312553p.R481Hc.1442G>ASubstitution - Missense
MLH3ENSG00000119684ENST00000355774p.L1108Fc.3322C>TSubstitution - Missense
NR1I3ENSG00000143257ENST00000367981p.M51Ic.153G>ASubstitution - Missense
ENST00000273600p.L2102Lc.6306G>ASubstitution - coding silent
KRT10ENSG00000186395ENST00000269576p.V372Ic.1114G>ASubstitution - Missense
RAD18ENSG00000070950ENST00000264926p.S3Fc.8C>TSubstitution - Missense
TMEM107ENSG00000179029ENST00000316425p.V65Fc.193G>TSubstitution - Missense
NECAB1ENSG00000123119ENST00000417640p.P171Pc.513A>GSubstitution - coding silent
RGP1ENSG00000107185ENST00000378078p.V167Vc.501C>TSubstitution - coding silent
AASSENSG00000008311ENST00000393376p.G789Ec.2366G>ASubstitution - Missense
SLC41A3ENSG00000114544ENST00000315891p.R468Tc.1403G>CSubstitution - Missense
ATP5L2ENSG00000249222ENST00000505920p.T34Tc.102C>TSubstitution - coding silent
RAMP1ENSG00000132329ENST00000254661p.I123Ic.369C>TSubstitution - coding silent
BMPR1BENSG00000138696ENST00000515059p.I130Tc.389T>CSubstitution - Missense
ENST00000217299p.K530Kc.1590G>ASubstitution - coding silent
ALPK2ENSG00000198796ENST00000361673p.L889Vc.2665C>GSubstitution - Missense
BCLAF1ENSG00000029363ENST00000531224p.P758Sc.2272C>TSubstitution - Missense
ZNF585AENSG00000196967ENST00000356958p.T377Ic.1130C>TSubstitution - Missense
PHC3ENSG00000173889ENST00000495893p.V603Vc.1809G>ASubstitution - coding silent
CCDC149ENSG00000181982ENST00000504487p.?c.1159+8C>TUnknown
LAMA1ENSG00000101680ENST00000389658p.H1053Yc.3157C>TSubstitution - Missense
ANAPC2ENSG00000176248ENST00000323927p.L140Lc.420G>ASubstitution - coding silent
NCANENSG00000130287ENST00000252575p.E641Kc.1921G>ASubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.Q4294Pc.12881A>CSubstitution - Missense
ANKRD30BLENSG00000163046ENST00000409867p.R48Gc.142C>GSubstitution - Missense
MUSKENSG00000030304ENST00000189978p.S490Cc.1469C>GSubstitution - Missense
EHMT2ENSG00000204371ENST00000395728p.?c.1035+3G>AUnknown
IFT172ENSG00000138002ENST00000416524p.L307Lc.921G>ASubstitution - coding silent
ENST00000314583_v70p.L334Fc.1000C>TSubstitution - Missense
KIAA1109ENSG00000138688ENST00000455637p.P1059Hc.3176C>ASubstitution - Missense
TOX3ENSG00000103460ENST00000219746p.S207Lc.620C>TSubstitution - Missense
HPDLENSG00000186603ENST00000334815p.T263Tc.789G>ASubstitution - coding silent
PODNENSG00000174348ENST00000371500p.R462Hc.1385G>ASubstitution - Missense
ANKLE2ENSG00000176915ENST00000337516p.G561Gc.1683C>ASubstitution - coding silent
ENST00000314657p.L274Lc.822G>ASubstitution - coding silent
OR51A4ENSG00000205497ENST00000380373p.L239Lc.717C>TSubstitution - coding silent
KLHL14ENSG00000197705ENST00000358095p.H196Hc.588C>TSubstitution - coding silent
VPS52ENSG00000223501ENST00000445902p.?c.548+7T>CUnknown
HNF4AENSG00000101076ENST00000316673p.V81Mc.241G>ASubstitution - Missense
MUC21ENSG00000204544ENST00000376296p.A177Ac.531C>TSubstitution - coding silent
ZNF26ENSG00000198393ENST00000328654p.F241Fc.723C>TSubstitution - coding silent
ANKLE2ENSG00000176915ENST00000357997p.G561Gc.1683C>ASubstitution - coding silent
CEP290ENSG00000198707ENST00000552810p.E1516Kc.4546G>ASubstitution - Missense
ENST00000371192_v61p.S551Fc.1652C>TSubstitution - Missense
FAM194BENSG00000165837ENST00000298738p.Y281Yc.843C>TSubstitution - coding silent
BPNT1ENSG00000162813ENST00000322067p.?c.475-3C>TUnknown
CSMD3ENSG00000164796ENST00000343508p.G3342fs*15c.10017_10018insAInsertion - Frameshift
FYCO1ENSG00000163820ENST00000296137p.V1332Mc.3994G>ASubstitution - Missense
PGM1ENSG00000079739ENST00000371084p.I83Ic.249C>TSubstitution - coding silent
PPFIBP1ENSG00000110841ENST00000318304p.S261*c.782C>ASubstitution - Nonsense
DHX37ENSG00000150990ENST00000308736p.E1112Ec.3336G>ASubstitution - coding silent
MIIPENSG00000116691ENST00000235332p.H359Yc.1075C>TSubstitution - Missense
ENST00000398860p.R859Cc.2575C>TSubstitution - Missense
NR1I3ENSG00000143257ENST00000428574p.M80Ic.240G>ASubstitution - Missense
LONP2ENSG00000102910ENST00000285737p.P321Sc.961C>TSubstitution - Missense
RGP1ENSG00000107185ENST00000456972p.V207Vc.621C>TSubstitution - coding silent
PLXNA4ENSG00000221866ENST00000321063p.G1104Gc.3312T>GSubstitution - coding silent
SEPT6ENSG00000125354ENST00000343984p.K338Nc.1014A>CSubstitution - Missense
RRBP1ENSG00000125844ENST00000360807p.R932Hc.2795G>ASubstitution - Missense
MCOLN3ENSG00000055732ENST00000370587p.R19Cc.55C>TSubstitution - Missense
ZMYM5ENSG00000132950ENST00000382905p.P212Lc.635C>TSubstitution - Missense
ABCB4ENSG00000005471ENST00000359206p.Y852Yc.2556C>TSubstitution - coding silent
ENST00000381114p.S1305Fc.3914C>TSubstitution - Missense
PCDHB13ENSG00000187372ENST00000341948p.G300Ac.899G>CSubstitution - Missense
TJP3ENSG00000105289ENST00000262968p.I801Ic.2403C>TSubstitution - coding silent
SVEP1ENSG00000165124ENST00000401783p.E3118Ac.9353A>CSubstitution - Missense
NCAPH2ENSG00000025770ENST00000299821p.F529Fc.1587C>TSubstitution - coding silent
HCLS1ENSG00000180353ENST00000314583p.L334Fc.1000C>TSubstitution - Missense
NPHP3ENSG00000113971ENST00000343113p.D166Hc.496G>CSubstitution - Missense
LLGL1ENSG00000131899ENST00000316843p.P287Sc.859C>TSubstitution - Missense
SRGAP3ENSG00000196220ENST00000360413p.R843Qc.2528G>ASubstitution - Missense
RBP3ENSG00000107618ENST00000224600p.E641Dc.1923G>TSubstitution - Missense
NINENSG00000100503ENST00000453196p.A1755Vc.5264C>TSubstitution - Missense
VARSENSG00000204394ENST00000375663p.R695Rc.2085G>ASubstitution - coding silent
PHF1ENSG00000112511ENST00000374516p.R538Qc.1613G>ASubstitution - Missense
ENST00000316490_v65p.A198Vc.593C>TSubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.R423Kc.1268G>ASubstitution - Missense
OR4E2ENSG00000221977ENST00000408935p.T57Tc.171C>TSubstitution - coding silent
C15orf37ENSG00000259642ENST00000560255p.L107Rc.320T>GSubstitution - Missense
ENST00000366638p.S79Wc.236C>GSubstitution - Missense
GPATCH4ENSG00000160818ENST00000438976p.R4Pc.11G>CSubstitution - Missense
LMO7ENSG00000136153ENST00000357063p.I396Ic.1188T>ASubstitution - coding silent
KLHL1ENSG00000150361ENST00000377844p.D365Nc.1093G>ASubstitution - Missense
NINENSG00000100503ENST00000382041p.A1755Vc.5264C>TSubstitution - Missense
ENST00000315089p.L75Lc.225C>GSubstitution - coding silent
ANKRD16ENSG00000134461ENST00000380092p.L191Lc.573T>CSubstitution - coding silent
HCKENSG00000101336ENST00000375852p.A134Tc.400G>ASubstitution - Missense
KIR3DL1ENSG00000167633ENST00000402254p.P184Hc.551C>ASubstitution - Missense
HIPK2ENSG00000064393ENST00000406875p.C472Cc.1416T>CSubstitution - coding silent
CCDC71ENSG00000177352ENST00000321895p.D69Yc.205G>TSubstitution - Missense
KLHL14ENSG00000197705ENST00000359358p.H196Hc.588C>TSubstitution - coding silent
PRKCDENSG00000163932ENST00000394729p.V363Ac.1088T>CSubstitution - Missense
PMS2ENSG00000122512ENST00000265849p.T485Mc.1454C>TSubstitution - Missense
MTIF2ENSG00000085760ENST00000394600p.L12Vc.34C>GSubstitution - Missense
CLHC1ENSG00000162994ENST00000407122p.K229Rc.686A>GSubstitution - Missense
ENSG00000172901ENST00000357872p.P161Pc.483C>TSubstitution - coding silent
WDFY3ENSG00000163625ENST00000295888p.S599Sc.1797C>TSubstitution - coding silent
TMEM74ENSG00000164841ENST00000297459p.A300Ac.900G>ASubstitution - coding silent
DNAH5ENSG00000039139ENST00000265104p.?c.12033+2T>GUnknown
SYNE1ENSG00000131018ENST00000341594p.?c.21027+7G>AUnknown
HKR1ENSG00000181666ENST00000392153p.R330Rc.990G>ASubstitution - coding silent
PRRC2BENSG00000130723ENST00000357304p.E1728Kc.5182G>ASubstitution - Missense
NPM1ENSG00000181163ENST00000517671p.P220Lc.659C>TSubstitution - Missense
HYDINENSG00000157423ENST00000538248p.A225Vc.674C>TSubstitution - Missense
COL2A1ENSG00000139219ENST00000337299p.N1348Sc.4043A>GSubstitution - Missense
UBL7ENSG00000138629ENST00000361351p.S251Fc.752C>TSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.K1815Ic.5444A>TSubstitution - Missense
TYRENSG00000077498ENST00000263321p.I170Ic.510C>TSubstitution - coding silent
CSRP3ENSG00000129170ENST00000265968p.E131Kc.391G>ASubstitution - Missense
KIR3DL1ENSG00000167633ENST00000391728p.P184Hc.551C>ASubstitution - Missense
HIST1H2ABENSG00000137259ENST00000259791p.A48Tc.142G>ASubstitution - Missense
FRYLENSG00000075539ENST00000503238p.L1211Lc.3633G>ASubstitution - coding silent
ANKRD36ENSG00000135976ENST00000461153p.L402Lc.1206A>GSubstitution - coding silent
NRP2ENSG00000118257ENST00000360409p.?c.74-1G>AUnknown
SP100ENSG00000067066ENST00000264052p.K703Kc.2109G>ASubstitution - coding silent
IL1RAPL1ENSG00000169306ENST00000378993p.D574Nc.1720G>ASubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.C1926Fc.5777G>TSubstitution - Missense
SSX1ENSG00000126752ENST00000376919p.?c.331-5T>GUnknown
UBXN7ENSG00000163960ENST00000296328p.S106Lc.317C>TSubstitution - Missense
SLFN5ENSG00000166750ENST00000299977p.P360Sc.1078C>TSubstitution - Missense
ITGA2BENSG00000005961ENST00000377068p.P180Tc.538C>ASubstitution - Missense
GRIA2ENSG00000120251ENST00000296526p.K172Nc.516A>TSubstitution - Missense
HHIPENSG00000164161ENST00000434550p.I208Ic.624C>TSubstitution - coding silent
ENST00000377653p.V119Ic.355G>ASubstitution - Missense
PPFIA2ENSG00000139220ENST00000333447p.E108Kc.322G>ASubstitution - Missense
OR51A2ENSG00000205496ENST00000380371p.R166Gc.496A>GSubstitution - Missense
MASP1ENSG00000127241ENST00000169293p.D230Dc.690C>TSubstitution - coding silent
EHMT2ENSG00000204371ENST00000375537p.?c.864+3G>AUnknown
SLC5A11ENSG00000158865ENST00000347898p.R512Cc.1534C>TSubstitution - Missense
SLC28A1ENSG00000156222ENST00000537624p.L219Lc.657C>GSubstitution - coding silent
FAM186BENSG00000135436ENST00000257894p.Y709Cc.2126A>GSubstitution - Missense
PLCZ1ENSG00000139151ENST00000266505p.V326Vc.978A>TSubstitution - coding silent
SLCO1A2ENSG00000084453ENST00000390670p.?c.905-3C>TUnknown
OBSCNENSG00000154358ENST00000284548p.E4574Kc.13720G>ASubstitution - Missense
LRRIQ1ENSG00000133640ENST00000393217p.S1711Sc.5133T>GSubstitution - coding silent
HNRNPA1L2ENSG00000139675ENST00000357495p.Y295Hc.883T>CSubstitution - Missense
AWAT2ENSG00000147160ENST00000276101p.A113Sc.337G>TSubstitution - Missense
LOH12CR1ENSG00000165714ENST00000314565p.?c.360+5T>CUnknown
PDE4DIPENSG00000178104ENST00000313431p.T1109Ac.3325A>GSubstitution - Missense
C12orf57ENSG00000111678ENST00000229281p.L11Fc.33G>TSubstitution - Missense
CACNA1EENSG00000198216ENST00000367570p.E1156Gc.3467A>GSubstitution - Missense
RAB3IPENSG00000127328ENST00000550536p.S263Fc.788C>TSubstitution - Missense
ZFP36L1ENSG00000185650ENST00000336440p.L68Fc.202C>TSubstitution - Missense
ADMENSG00000148926ENST00000278175p.S13Lc.38C>TSubstitution - Missense
TRIM33ENSG00000197323ENST00000358465p.E1093Kc.3277G>ASubstitution - Missense
TCHHENSG00000159450ENST00000368804p.Q506Qc.1518A>GSubstitution - coding silent
CHRNA7ENSG00000175344ENST00000306901p.P348Pc.1044C>TSubstitution - coding silent
RRP9ENSG00000114767ENST00000232888p.?c.349-1G>AUnknown
ANKRD36ENSG00000135976ENST00000420699p.L402Lc.1206A>GSubstitution - coding silent
SEZ6ENSG00000063015ENST00000317338p.?c.1771+8G>AUnknown
WNK2ENSG00000165238ENST00000297954p.Q1081Qc.3243G>ASubstitution - coding silent
ENST00000371233p.I339Vc.1015A>GSubstitution - Missense
EIF4HENSG00000106682ENST00000265753p.A104Sc.310G>TSubstitution - Missense
CYBBENSG00000165168ENST00000378588p.H210Lc.629A>TSubstitution - Missense
YIPF4ENSG00000119820ENST00000238831p.G172Gc.516A>CSubstitution - coding silent
RAPH1ENSG00000173166ENST00000308091p.T127Tc.381A>GSubstitution - coding silent
OXR1ENSG00000164830ENST00000442977p.E590Qc.1768G>CSubstitution - Missense
ATP2B3ENSG00000067842ENST00000263519p.K335Kc.1005G>ASubstitution - coding silent
STK32AENSG00000169302ENST00000397936p.L330Mc.988C>ASubstitution - Missense
PRUNE2ENSG00000106772ENST00000376718p.?c.8831+7G>AUnknown
LHCGRENSG00000138039ENST00000294954p.E187Qc.559G>CSubstitution - Missense
RAD21ENSG00000164754ENST00000297338p.?c.1161+5T>CUnknown
DSTENSG00000151914ENST00000244364p.K4292Nc.12876G>CSubstitution - Missense
IFNA13ENSG00000233816ENST00000449498p.S4Lc.11C>TSubstitution - Missense
PPP2R3AENSG00000073711ENST00000264977p.E883Kc.2647G>ASubstitution - Missense
KIAA2018ENSG00000176542ENST00000316407p.T783Tc.2349T>CSubstitution - coding silent
ALDOAENSG00000149925ENST00000338110p.T65Ic.194C>TSubstitution - Missense
PIEZO2ENSG00000154864ENST00000383408p.R336Wc.1006C>TSubstitution - Missense
ATL2ENSG00000119787ENST00000378954p.A8Pc.22G>CSubstitution - Missense
SLC5A10ENSG00000154025ENST00000317977p.I232Tc.695T>CSubstitution - Missense
KIAA0100ENSG00000007202ENST00000528896p.T516Sc.1546A>TSubstitution - Missense
DIP2CENSG00000151240ENST00000540204p.F290Fc.870C>TSubstitution - coding silent
FBXO9ENSG00000112146ENST00000244426p.S79Lc.236C>TSubstitution - Missense
ENST00000316490p.A198Vc.593C>TSubstitution - Missense
PDCL2ENSG00000163440ENST00000295645p.E29Kc.85G>ASubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
DISC1ENSG00000162946ENST00000317586p.S79Wc.236C>GSubstitution - Missense
VWA5AENSG00000110002ENST00000392748p.L518Lc.1554C>TSubstitution - coding silent
RD3ENSG00000198570ENST00000367002p.G57Vc.170G>TSubstitution - Missense
CDC42BPAENSG00000143776ENST00000366769p.S1625*c.4874C>GSubstitution - Nonsense
HECTD4ENSG00000173064ENST00000377560p.D3024Nc.9070G>ASubstitution - Missense
CACNA1EENSG00000198216ENST00000357570p.E1107Gc.3320A>GSubstitution - Missense
FGGYENSG00000172456ENST00000303721p.L187Lc.561C>GSubstitution - coding silent
SOX1ENSG00000182968ENST00000330949p.E88Kc.262G>ASubstitution - Missense
ZMYM5ENSG00000132950ENST00000337963p.P212Lc.635C>TSubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.A1359Ec.4076C>ASubstitution - Missense
CNNM3ENSG00000168763ENST00000305510p.D614Nc.1840G>ASubstitution - Missense
ZNF717ENSG00000227124ENST00000422325p.T558fs*6c.1670_1839del170Deletion - Frameshift
KRI1ENSG00000129347ENST00000312962p.E571Kc.1711G>ASubstitution - Missense
HMHA1ENSG00000180448ENST00000313093p.V113Vc.339C>TSubstitution - coding silent
MATN2ENSG00000132561ENST00000520016p.F222Fc.666C>TSubstitution - coding silent
RAI1ENSG00000108557ENST00000353383p.H476Hc.1428T>CSubstitution - coding silent
PREX2ENSG00000046889ENST00000288368p.N54Kc.162C>ASubstitution - Missense
BOD1L1ENSG00000038219ENST00000040738p.N163Dc.487A>GSubstitution - Missense
MYH2ENSG00000125414ENST00000245503p.R1668Wc.5002C>TSubstitution - Missense
MDN1ENSG00000112159ENST00000369393p.T4930Tc.14790C>TSubstitution - coding silent
RASEFENSG00000165105ENST00000376447p.C435Yc.1304G>ASubstitution - Missense
ERCC6LENSG00000186871ENST00000334463p.I320Ic.960C>TSubstitution - coding silent
CCDC8ENSG00000169515ENST00000307522p.P215Pc.645G>ASubstitution - coding silent
ENST00000505920_v68p.T34Tc.102C>TSubstitution - coding silent
UGT1A5ENSG00000240224ENST00000373414p.M405Tc.1214T>CSubstitution - Missense
SEPP1ENSG00000250722ENST00000514985p.K170Tc.509A>CSubstitution - Missense
EXOSC5ENSG00000077348ENST00000221233p.E4Ec.12G>ASubstitution - coding silent
SEMA4GENSG00000095539ENST00000210633p.A229Ac.687C>TSubstitution - coding silent
DISC1ENSG00000162946ENST00000366636p.S274Cc.821C>GSubstitution - Missense
ENST00000377560_v62p.D3274Nc.9820G>ASubstitution - Missense
FGD5ENSG00000154783ENST00000285046p.A321Tc.961G>ASubstitution - Missense
MLYCDENSG00000103150ENST00000262430p.G193Rc.577G>ASubstitution - Missense
CSMD1ENSG00000183117ENST00000539096p.F201Vc.601T>GSubstitution - Missense
WNK2ENSG00000165238ENST00000427277p.Q693Qc.2079G>ASubstitution - coding silent
MUC12ENSG00000205277ENST00000379442p.S3327Pc.9979T>CSubstitution - Missense
TSEN2ENSG00000154743ENST00000444864p.?c.189+4A>GUnknown
PRKACBENSG00000142875ENST00000394838p.R288Kc.863G>ASubstitution - Missense
ATP8B4ENSG00000104043ENST00000284509p.Q447Pc.1340A>CSubstitution - Missense
ARHGEF10LENSG00000074964ENST00000361221p.?c.350-3C>TUnknown
TRPC6ENSG00000137672ENST00000344327p.P381Lc.1142C>TSubstitution - Missense
AGAP7ENSG00000204169ENST00000374095p.?c.292+3G>AUnknown
CIITAENSG00000179583ENST00000324288p.H846Dc.2536C>GSubstitution - Missense
HCKENSG00000101336ENST00000538448p.A113Tc.337G>ASubstitution - Missense
APPENSG00000142192ENST00000346798p.W209Cc.627G>TSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.S2530Rc.7590C>ASubstitution - Missense
TNPO3ENSG00000064419ENST00000393245p.?c.120+3G>AUnknown
BC046415.1p.?c.215+6G>AUnknown
MUC12ENSG00000205277ENST00000536621p.S3184Pc.9550T>CSubstitution - Missense
TBC1D10AENSG00000099992ENST00000215790p.E502Ec.1506G>ASubstitution - coding silent
USP7ENSG00000187555ENST00000344836p.T231Tc.693G>ASubstitution - coding silent
ITGA1ENSG00000213949ENST00000282588p.E947Kc.2839G>ASubstitution - Missense
TNXBENSG00000168477ENST00000375247p.V3286Vc.9858G>CSubstitution - coding silent
GTPBP3ENSG00000130299ENST00000358792p.L39Lc.117A>TSubstitution - coding silent
SLITRK2ENSG00000185985ENST00000447897p.D532Dc.1596C>TSubstitution - coding silent
ZNF573ENSG00000189144ENST00000339503p.Y70Cc.209A>GSubstitution - Missense
ZNF573ENSG00000189144ENST00000590414p.Y128Cc.383A>GSubstitution - Missense
SIENSG00000090402ENST00000264382p.H174Yc.520C>TSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.H547Hc.1641C>TSubstitution - coding silent
DCLRE1CENSG00000152457ENST00000378278p.E627Kc.1879G>ASubstitution - Missense
DMTF1ENSG00000135164ENST00000394702p.N222Nc.666C>TSubstitution - coding silent
WNK2ENSG00000165238ENST00000395477p.Q1081Qc.3243G>ASubstitution - coding silent
HLA-AENSG00000206503ENST00000376806p.?c.619+3A>CUnknown
SCN1AENSG00000144285ENST00000303395p.R690Kc.2069G>ASubstitution - Missense
C1orf167ENSG00000215910ENST00000433342p.?c.2933-6C>TUnknown
CASC4ENSG00000166734ENST00000299957p.P237Tc.709C>ASubstitution - Missense
AGO1ENSG00000092847ENST00000373204p.G299Rc.895G>ASubstitution - Missense
EFTUD1ENSG00000140598ENST00000268206p.K167Kc.501G>ASubstitution - coding silent
DNAH14ENSG00000185842ENST00000445597p.E564Kc.1690G>ASubstitution - Missense
ENST00000359888p.T123Tc.369T>GSubstitution - coding silent
ABCA4ENSG00000198691ENST00000370225p.D1086Dc.3258C>TSubstitution - coding silent
ZNF133ENSG00000125846ENST00000377671p.G211Gc.633A>TSubstitution - coding silent
PKN2ENSG00000065243ENST00000370521p.S21Gc.61A>GSubstitution - Missense
MYO16ENSG00000041515ENST00000357550p.K1649Rc.4946A>GSubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.V1932Vc.5796G>ASubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313382p.T1012Ac.3034A>GSubstitution - Missense
ARHGEF10LENSG00000074964ENST00000361221p.?c.350-3C>TUnknown
NBPF14ENSG00000122497ENST00000310701p.?c.1582+10G>AUnknown
RGS6ENSG00000182732ENST00000555571p.V25Gc.74T>GSubstitution - Missense
ASPMENSG00000066279ENST00000367409p.H2554Yc.7660C>TSubstitution - Missense
NM_002426.1p.T292Tc.876T>ASubstitution - coding silent
ITGAEENSG00000083457ENST00000263087p.T1025Mc.3074C>TSubstitution - Missense
ZNF878ENSG00000257446ENST00000547628p.E504Kc.1510G>ASubstitution - Missense
ENST00000005905p.T516Sc.1546A>TSubstitution - Missense
GUCY2FENSG00000101890ENST00000218006p.P987Pc.2961G>ASubstitution - coding silent
CACNA2D1ENSG00000153956ENST00000356860p.L1065Fc.3195A>TSubstitution - Missense
CAPN14ENSG00000214711ENST00000403897p.L550Lc.1650G>CSubstitution - coding silent
DGCR8ENSG00000128191ENST00000351989p.?c.1890-7C>TUnknown
HGFACENSG00000109758ENST00000382774p.?c.1103-3C>GUnknown
FFAR3ENSG00000185897ENST00000327809p.L267Lc.801G>ASubstitution - coding silent
NM_024947.2p.V572Vc.1716G>ASubstitution - coding silent
C9orf116ENSG00000160345ENST00000371791p.V70Mc.208G>ASubstitution - Missense
RALGDSENSG00000160271ENST00000372050p.L907Lc.2721C>TSubstitution - coding silent
PET112ENSG00000059691ENST00000263985p.L239Pc.716T>CSubstitution - Missense
TUBGCP6ENSG00000128159ENST00000248846p.I1223Ic.3669C>TSubstitution - coding silent
MAGEE1ENSG00000198934ENST00000361470p.P64Pc.192A>GSubstitution - coding silent
MAGEE1ENSG00000198934ENST00000361470p.P64Pc.192A>GSubstitution - coding silent
SAMM50ENSG00000100347ENST00000350028p.M322Kc.965T>ASubstitution - Missense
UGT1A4ENSG00000244474ENST00000373409p.M405Tc.1214T>CSubstitution - Missense
ENST00000434489p.?c.560+10G>AUnknown
EEF2KENSG00000103319ENST00000263026p.R331Wc.991C>TSubstitution - Missense
HNF4AENSG00000101076ENST00000443598p.V103Mc.307G>ASubstitution - Missense
FAM84AENSG00000162981ENST00000295092p.F226Fc.678C>TSubstitution - coding silent
OR52I2ENSG00000226288ENST00000312614p.K163Kc.489G>ASubstitution - coding silent
FBXO22ENSG00000167196ENST00000308275p.R86Hc.257G>ASubstitution - Missense
PGM1ENSG00000079739ENST00000371083p.I101Ic.303C>TSubstitution - coding silent
OPCMLENSG00000183715ENST00000524381p.R207Rc.621G>ASubstitution - coding silent
MACF1ENSG00000127603ENST00000361689p.Q994*c.2980C>TSubstitution - Nonsense
ENST00000279593p.E804Ec.2412G>ASubstitution - coding silent
SLCO1A2ENSG00000084453ENST00000307378p.I322Mc.966A>GSubstitution - Missense
EXT2ENSG00000151348ENST00000358681p.E599Kc.1795G>ASubstitution - Missense
TMEM35ENSG00000126950ENST00000372930p.S3Tc.7T>ASubstitution - Missense
PKD1L2ENSG00000166473ENST00000525539p.Q925Qc.2775G>ASubstitution - coding silent
DAB1ENSG00000173406ENST00000371231p.I372Vc.1114A>GSubstitution - Missense
CCDC18ENSG00000122483ENST00000334652p.Y532*c.1596T>GSubstitution - Nonsense
SLC38A6ENSG00000139974ENST00000267488p.R420Kc.1259G>ASubstitution - Missense
FRMD6ENSG00000139926ENST00000344768p.D539Nc.1615G>ASubstitution - Missense
ARNTL2ENSG00000029153ENST00000266503p.S244Fc.731C>TSubstitution - Missense
ITFG2ENSG00000111203ENST00000228799p.?c.406+5G>AUnknown
REP15ENSG00000174236ENST00000310791p.F66Fc.198C>TSubstitution - coding silent
FAM101AENSG00000178882ENST00000324038p.E75Gc.224A>GSubstitution - Missense
MFI2ENSG00000163975ENST00000296350p.E178Kc.532G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.V1769Ac.5306T>CSubstitution - Missense
TRAP1ENSG00000126602ENST00000246957p.?c.1569+10C>TUnknown
ENST00000356127p.M9641Ic.28923G>TSubstitution - Missense
MED1ENSG00000125686ENST00000300651p.M947Tc.2840T>CSubstitution - Missense
NM_032217.3p.R2502*c.7504C>TSubstitution - Nonsense
SRGAP3ENSG00000196220ENST00000383836p.R867Qc.2600G>ASubstitution - Missense
CSHL1ENSG00000204414ENST00000309894p.?c.471+9G>AUnknown
TJP3ENSG00000105289ENST00000262968p.R128Hc.383G>ASubstitution - Missense
RPL7AENSG00000148303ENST00000323345p.E232Kc.694G>ASubstitution - Missense
DSTENSG00000151914ENST00000244364p.S211Fc.632C>TSubstitution - Missense
DSTENSG00000151914ENST00000370765p.S211Fc.632C>TSubstitution - Missense
ETAA1ENSG00000143971ENST00000272342p.Q622*c.1864C>TSubstitution - Nonsense
TSEN2ENSG00000154743ENST00000284995p.?c.189+4A>GUnknown
COL4A4ENSG00000081052ENST00000396625p.G975Gc.2925G>ASubstitution - coding silent
UGT1A10ENSG00000242515ENST00000344644p.M401Tc.1202T>CSubstitution - Missense
RHCEENSG00000188672ENST00000413854p.S284*c.851C>ASubstitution - Nonsense
DENND3ENSG00000105339ENST00000262585p.V1192Vc.3576C>TSubstitution - coding silent
IGLL1ENSG00000128322ENST00000330377p.P121Pc.363G>ASubstitution - coding silent
PLCE1ENSG00000138193ENST00000260766p.L1785Lc.5355G>ASubstitution - coding silent
MIA3ENSG00000154305ENST00000344922p.E1312Kc.3934G>ASubstitution - Missense
KIAA1324LENSG00000164659ENST00000450689p.K374Qc.1120A>CSubstitution - Missense
MAPK8ENSG00000107643ENST00000374176p.I219Ic.657C>TSubstitution - coding silent
SEPT6ENSG00000125354ENST00000354416p.K338Nc.1014A>CSubstitution - Missense
CAPN14ENSG00000214711ENST00000444918p.L550Lc.1650G>CSubstitution - coding silent
ARHGEF10LENSG00000074964ENST00000375408p.R1005Cc.3013C>TSubstitution - Missense
NBPF14ENSG00000122497ENST00000369219p.?c.1565+10G>AUnknown
SLC39A12ENSG00000148482ENST00000377369p.S292Fc.875C>TSubstitution - Missense
TGM7ENSG00000159495ENST00000452443p.G385Gc.1155G>ASubstitution - coding silent
ETV1ENSG00000006468ENST00000430479p.M402Ic.1206G>ASubstitution - Missense
ROBO1ENSG00000169855ENST00000495273p.H7Nc.19C>ASubstitution - Missense
RTFDC1ENSG00000022277ENST00000023939p.R131Rc.393A>GSubstitution - coding silent
SLA2ENSG00000101082ENST00000262866p.A35Vc.104C>TSubstitution - Missense
CYTH1ENSG00000108669ENST00000361101p.I161Ic.483C>TSubstitution - coding silent
POLR2AENSG00000181222ENST00000322644p.N152fs*19c.450_451insAInsertion - Frameshift
MAP2K4ENSG00000065559ENST00000353533p.E203Kc.607G>ASubstitution - Missense
SESTD1ENSG00000187231ENST00000428443p.E515Ec.1545A>GSubstitution - coding silent
SCUBE1ENSG00000159307ENST00000360835p.H175Hc.525C>TSubstitution - coding silent
TULP4ENSG00000130338ENST00000367097p.G1440Sc.4318G>ASubstitution - Missense
MMRN1ENSG00000138722ENST00000394980p.P1216fs*5c.3647_3648delCTDeletion - Frameshift
ZNF292ENSG00000188994ENST00000339907p.T1381Tc.4143G>ASubstitution - coding silent
AUHENSG00000148090ENST00000375731p.D265Dc.795C>TSubstitution - coding silent
BECN1ENSG00000126581ENST00000361523p.G106Gc.318C>TSubstitution - coding silent
NEDD9ENSG00000111859ENST00000504387p.V158Vc.474G>TSubstitution - coding silent
POLKENSG00000122008ENST00000241436p.L559Lc.1675C>TSubstitution - coding silent
CHRNA7ENSG00000175344ENST00000454250p.P377Pc.1131C>TSubstitution - coding silent
SCN1AENSG00000144285ENST00000375405p.R679Kc.2036G>ASubstitution - Missense
SPTAN1ENSG00000197694ENST00000372731p.F1769Fc.5307C>TSubstitution - coding silent
PRRC2BENSG00000130723ENST00000357304p.A1910Tc.5728G>ASubstitution - Missense
SLC39A7ENSG00000112473ENST00000444757p.?c.141+3G>TUnknown
TPOENSG00000115705ENST00000345913p.?c.95-9G>AUnknown
BAZ2BENSG00000123636ENST00000392783p.V2100Ic.6298G>ASubstitution - Missense
ATAT1ENSG00000137343ENST00000330083p.R98Cc.292C>TSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.L119Fc.355C>TSubstitution - Missense
ENST00000366638p.S274Cc.821C>GSubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.L1785Lc.5355G>ASubstitution - coding silent
ENST00000371192p.S551Fc.1652C>TSubstitution - Missense
H3F3AENSG00000163041ENST00000366813p.G91Sc.271G>ASubstitution - Missense
ENST00000328843_v70p.C1926Fc.5777G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.?c.21978+7G>AUnknown
SYNE1ENSG00000131018ENST00000448038p.E8117Kc.24349G>ASubstitution - Missense
PTPN2ENSG00000175354ENST00000327283p.T93Tc.279A>GSubstitution - coding silent
TPOENSG00000115705ENST00000539820p.?c.95-9G>AUnknown
XM_046751.7p.P1487Lc.4460C>TSubstitution - Missense
PRCPENSG00000137509ENST00000313010p.V284Lc.850G>TSubstitution - Missense
NM_014381.1p.L1108Fc.3322C>TSubstitution - Missense
SLC38A4ENSG00000139209ENST00000266579p.T366Tc.1098G>ASubstitution - coding silent
GPTENSG00000167701ENST00000528431p.S288Lc.863C>TSubstitution - Missense
PPP1R9AENSG00000158528ENST00000433360p.R1177Kc.3530G>ASubstitution - Missense
KRT28ENSG00000173908ENST00000306658p.D174Nc.520G>ASubstitution - Missense
CNTNAP3ENSG00000106714ENST00000297668p.V207Ic.619G>ASubstitution - Missense
PREX2ENSG00000046889ENST00000288368p.Q55*c.163C>TSubstitution - Nonsense
GMIPENSG00000089639ENST00000203556p.E921Kc.2761G>ASubstitution - Missense
PRMT7ENSG00000132600ENST00000339507p.A552Gc.1655C>GSubstitution - Missense
CLASP2ENSG00000163539ENST00000333778p.S846Lc.2537C>TSubstitution - Missense
ST6GAL1ENSG00000073849ENST00000169298p.D59Nc.175G>ASubstitution - Missense
TMEM129ENSG00000168936ENST00000303277p.V145Vc.435C>GSubstitution - coding silent
HNF4AENSG00000101076ENST00000316099p.V103Mc.307G>ASubstitution - Missense
ZNF70ENSG00000187792ENST00000341976p.D232Yc.694G>TSubstitution - Missense
HIST1H1BENSG00000184357ENST00000331442p.S107Sc.321C>TSubstitution - coding silent
PLXNB3ENSG00000198753ENST00000538966p.T1540Tc.4620G>ASubstitution - coding silent
HIST1H2BCENSG00000180596ENST00000396984p.I74Ic.222C>TSubstitution - coding silent
RAI1ENSG00000108557ENST00000261641p.H476Hc.1428T>CSubstitution - coding silent
CACNA1EENSG00000198216ENST00000367567p.E763Gc.2288A>GSubstitution - Missense
TCHHENSG00000159450ENST00000368804p.L507Qc.1520T>ASubstitution - Missense
TCHHENSG00000159450ENST00000368804p.L491Rc.1472T>GSubstitution - Missense
COPAENSG00000122218ENST00000368069p.A870Gc.2609C>GSubstitution - Missense
CHRNA7ENSG00000175344ENST00000437966p.P258Pc.774C>TSubstitution - coding silent
ZP4ENSG00000116996ENST00000366570p.S18Rc.54T>ASubstitution - Missense
ENST00000299538p.V51Mc.151G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.E5286Kc.15856G>ASubstitution - Missense
ENST00000354677p.N54Kc.162C>ASubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.V1932Vc.5796G>ASubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369356p.T946Ac.2836A>GSubstitution - Missense
AHCYL1ENSG00000168710ENST00000369799p.K324Rc.971A>GSubstitution - Missense
KIAA1217ENSG00000120549ENST00000376454p.K512Qc.1534A>CSubstitution - Missense
MTUS1ENSG00000129422ENST00000297488p.Q367Rc.1100A>GSubstitution - Missense
KRTAP4-5ENSG00000198271ENST00000343246p.Q27Rc.80A>GSubstitution - Missense
ACAD11ENSG00000240303ENST00000264990p.K662Ec.1984A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.?c.22191+7G>AUnknown
CD83ENSG00000112149ENST00000379153p.C27Yc.80G>ASubstitution - Missense
ALPK1ENSG00000073331ENST00000458497p.S890Sc.2670C>TSubstitution - coding silent
SLC12A4ENSG00000124067ENST00000316341p.L376Lc.1128C>TSubstitution - coding silent
LRSAM1ENSG00000148356ENST00000373322p.M685Ic.2055G>ASubstitution - Missense
ASIC3ENSG00000213199ENST00000357922p.?c.686-6C>GUnknown
ATP2B3ENSG00000067842ENST00000359149p.K335Kc.1005G>ASubstitution - coding silent
PPP1R21ENSG00000162869ENST00000281394p.L250Lc.750G>ASubstitution - coding silent
KCNQ3ENSG00000184156ENST00000388996p.P693Pc.2079G>ASubstitution - coding silent
CNTNAP3ENSG00000106714ENST00000358144p.V119Ic.355G>ASubstitution - Missense
UGT1A8ENSG00000241635ENST00000360418p.M404Tc.1211T>CSubstitution - Missense
SHC2ENSG00000129946ENST00000264554p.Q400Ec.1198C>GSubstitution - Missense
SLX4ENSG00000188827ENST00000294008p.S1532Rc.4596C>ASubstitution - Missense
GOLGA8HENSG00000261794ENST00000566740p.S260Sc.780G>ASubstitution - coding silent
NM_002779.2p.?c.112+6G>CUnknown
DISC1ENSG00000162946ENST00000366636p.S79Wc.236C>GSubstitution - Missense
VAMP1ENSG00000139190ENST00000396308p.?c.130-3C>TUnknown
ATP2B1ENSG00000070961ENST00000261173p.V686Vc.2058G>ASubstitution - coding silent
PPFIA2ENSG00000139220ENST00000549396p.E126Kc.376G>ASubstitution - Missense
TRAF6ENSG00000175104ENST00000526995p.E370Ec.1110G>ASubstitution - coding silent
DNAH14ENSG00000185842ENST00000430092p.E545Kc.1633G>ASubstitution - Missense
NM_152536.2p.A80Tc.238G>ASubstitution - Missense
AGBL3ENSG00000146856ENST00000436302p.R319Wc.955C>TSubstitution - Missense
PPP1R15BENSG00000158615ENST00000367188p.W84*c.252G>ASubstitution - Nonsense
LRRC23ENSG00000010626ENST00000007969p.E150Kc.448G>ASubstitution - Missense
ELF5ENSG00000135374ENST00000312319p.R247*c.739C>TSubstitution - Nonsense
NPRL3ENSG00000103148ENST00000399953p.R284Wc.850C>TSubstitution - Missense
VRTNENSG00000133980ENST00000256362p.Y191Sc.572A>CSubstitution - Missense
DENND2CENSG00000175984ENST00000393276p.?c.1199-1G>CUnknown
AKIRIN1ENSG00000174574ENST00000432648p.Q99Hc.297G>CSubstitution - Missense
SNX15ENSG00000110025ENST00000377244p.E250Kc.748G>ASubstitution - Missense
OPCMLENSG00000183715ENST00000331898p.L338Vc.1012T>GSubstitution - Missense
SWAP70ENSG00000133789ENST00000318950p.?c.1189-6C>AUnknown
ATP9AENSG00000054793ENST00000338821p.L716Lc.2148G>ASubstitution - coding silent
COL24A1ENSG00000171502ENST00000370571p.Y472Dc.1414T>GSubstitution - Missense
CYP27A1ENSG00000135929ENST00000258415p.A169Ac.507G>ASubstitution - coding silent
EPM2AENSG00000112425ENST00000367519p.R241*c.721C>TSubstitution - Nonsense
VIPR1ENSG00000114812ENST00000325123p.E108Kc.322G>ASubstitution - Missense
NME4ENSG00000103202ENST00000219479p.F141Lc.423C>ASubstitution - Missense
HIST1H1DENSG00000124575ENST00000244534p.K140Ec.418A>GSubstitution - Missense
ENST00000377989p.R441Wc.1321C>TSubstitution - Missense
CACNG2ENSG00000166862ENST00000300105p.E85Qc.253G>CSubstitution - Missense
TDRD5ENSG00000162782ENST00000444136p.R970Cc.2908C>TSubstitution - Missense
PLCZ1ENSG00000139151ENST00000541695p.V189Vc.567A>TSubstitution - coding silent
MASP1ENSG00000127241ENST00000337774p.D230Dc.690C>TSubstitution - coding silent
NFKBIEENSG00000146232ENST00000275015p.R311Qc.932G>ASubstitution - Missense
CDC42ENSG00000070831ENST00000400259p.A13Tc.37G>ASubstitution - Missense
ABCB5ENSG00000004846ENST00000404938p.E1143Kc.3427G>ASubstitution - Missense
OXR1ENSG00000164830ENST00000517566p.E589Qc.1765G>CSubstitution - Missense
MTMR2ENSG00000087053ENST00000346299p.?c.262+1_263-1del3234Unknown
INAENSG00000148798ENST00000369849p.L265Lc.795G>ASubstitution - coding silent
ENST00000329916p.V77Mc.229G>ASubstitution - Missense
NM_052947p.L255Vc.763C>GSubstitution - Missense
MTUS1ENSG00000129422ENST00000381861p.Q448Rc.1343A>GSubstitution - Missense
KLHL5ENSG00000109790ENST00000504108p.T192Ac.574A>GSubstitution - Missense
NM_025134.3p.L94Lc.282A>GSubstitution - coding silent
ENST00000318252p.S2259Rc.6777C>ASubstitution - Missense
NM_003928.1p.D189Vc.566A>TSubstitution - Missense
SMARCAL1ENSG00000138375ENST00000357276p.V513Ac.1538T>CSubstitution - Missense
INPP5DENSG00000168918ENST00000359570p.L824Lc.2472A>GSubstitution - coding silent
CDH16ENSG00000166589ENST00000299752p.?c.2276-10C>GUnknown
CDH3ENSG00000062038ENST00000429102p.R274Wc.820C>TSubstitution - Missense
STPG2ENSG00000163116ENST00000295268p.P214Lc.641C>TSubstitution - Missense
CYBBENSG00000165168ENST00000378588p.I177Vc.529A>GSubstitution - Missense
ENST00000338885p.R390Rc.1170G>ASubstitution - coding silent
NEBENSG00000183091ENST00000427231p.A8271Vc.24812C>TSubstitution - Missense
SLC9A6ENSG00000198689ENST00000370698p.P520Tc.1558C>ASubstitution - Missense
KCND2ENSG00000184408ENST00000331113p.F121Fc.363C>TSubstitution - coding silent
VPS13BENSG00000132549ENST00000358544p.?c.5024+10G>AUnknown
ATP2B3ENSG00000067842ENST00000349466p.K335Kc.1005G>ASubstitution - coding silent
ATP2B3ENSG00000067842ENST00000370186p.K321Kc.963G>ASubstitution - coding silent
HSPA4ENSG00000170606ENST00000304858p.F716Fc.2148C>TSubstitution - coding silent
MAPKAPK5ENSG00000089022ENST00000551404p.E391Gc.1172A>GSubstitution - Missense
ENST00000370589_v70p.R19Cc.55C>TSubstitution - Missense
MSH5ENSG00000204410ENST00000375703p.N259Dc.775A>GSubstitution - Missense


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