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SUP-HD-1 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

3535 mutations reported
1269 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
XPO1ENSG00000082898ENST00000401558p.E571Kc.1711G>ASubstitution - Missense
KDM1AENSG00000004487ENST00000356634p.W531Cc.1593G>TSubstitution - Missense
KDM1AENSG00000004487ENST00000400181p.W555Cc.1665G>TSubstitution - Missense
ELF4ENSG00000102034ENST00000335997p.R267Qc.800G>ASubstitution - Missense
CCDC87ENSG00000182791ENST00000333861p.L601Ic.1801C>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S7713fs*5c.23136delCDeletion - Frameshift
ENSG00000258472ENST00000531839p.?c.761+1G>AUnknown
ENST00000531839_v68p.?c.761+1G>AUnknown
OSBPL1AENSG00000141447ENST00000319481p.K894fs*>57c.2682delADeletion - Frameshift
EGFRENSG00000146648ENST00000275493p.S811Fc.2432C>TSubstitution - Missense
ANKRD26ENSG00000107890ENST00000376087p.K1234fs*19c.3702delADeletion - Frameshift
DAZAP1ENSG00000071626ENST00000336761p.P257fs*78c.764delCDeletion - Frameshift
RIMS2ENSG00000176406ENST00000406091p.R1254Ic.3761G>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000507740p.R1068Ic.3203G>TSubstitution - Missense
ZNF565ENSG00000196357ENST00000304116p.K198Kc.594G>ASubstitution - coding silent
RTN2ENSG00000125744ENST00000245923p.S227Lc.680C>TSubstitution - Missense
GH2ENSG00000136487ENST00000456543p.C240Yc.719G>ASubstitution - Missense
ASXL3ENSG00000141431ENST00000269197p.R1444Qc.4331G>ASubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.R1893fs*35c.5677_5678delAGDeletion - Frameshift
ACIN1ENSG00000100813ENST00000262710p.E241Qc.721G>CSubstitution - Missense
ARHGAP32ENSG00000134909ENST00000310343p.V286Ac.857T>CSubstitution - Missense
OR4C16ENSG00000181935ENST00000314634p.R31Cc.91C>TSubstitution - Missense
ZNF511ENSG00000198546ENST00000361518p.A173Tc.517G>ASubstitution - Missense
MAELENSG00000143194ENST00000367872p.A303Vc.908C>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000436393p.R1272Ic.3815G>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000507740p.R1068Ic.3203G>TSubstitution - Missense
NT5C1AENSG00000116981ENST00000235628p.R63Cc.187C>TSubstitution - Missense
TMEM53ENSG00000126106ENST00000372237p.P71Sc.211C>TSubstitution - Missense
ASB17ENSG00000154007ENST00000284142p.K53Nc.159A>TSubstitution - Missense
ZNF624ENSG00000197566ENST00000311331p.Q75Qc.225G>ASubstitution - coding silent
SFRP2ENSG00000145423ENST00000274063p.E109Kc.325G>ASubstitution - Missense
SYNJ2ENSG00000078269ENST00000355585p.P1113fs*5c.3331delCDeletion - Frameshift
TLX1ENSG00000107807ENST00000370196p.T197Mc.590C>TSubstitution - Missense
BAP1ENSG00000163930ENST00000460680p.N299Sc.896A>GSubstitution - Missense
DOCK3ENSG00000088538ENST00000266037p.P1852fs*45c.5549delCDeletion - Frameshift
PLEKHA6ENSG00000143850ENST00000272203p.V328fs*172c.982delGDeletion - Frameshift
MORC1ENSG00000114487ENST00000232603p.D719Nc.2155G>ASubstitution - Missense
DSTENSG00000151914ENST00000370769p.T2440Tc.7320G>ASubstitution - coding silent
CNTN2ENSG00000184144ENST00000331830p.T906Mc.2717C>TSubstitution - Missense
ARHGAP5ENSG00000100852ENST00000345122p.N943fs*2c.2821delADeletion - Frameshift
JAKMIP2ENSG00000176049ENST00000265272p.R142Qc.425G>ASubstitution - Missense
PES1ENSG00000100029ENST00000354694p.P45Pc.135C>TSubstitution - coding silent
OR6C75ENSG00000187857ENST00000343399p.P181Pc.543A>GSubstitution - coding silent
NCKAP1LENSG00000123338ENST00000293373p.L211Lc.633C>TSubstitution - coding silent
PCBP2ENSG00000197111ENST00000359462p.G30Rc.88G>ASubstitution - Missense
PCBP2ENSG00000197111ENST00000359462p.I162Ic.486C>TSubstitution - coding silent
SOAT2ENSG00000167780ENST00000301466p.?c.863+6A>TUnknown
USH2AENSG00000042781ENST00000307340p.G3065fs*18c.9194_9198delGAATGDeletion - Frameshift
CENPFENSG00000117724ENST00000366955p.P2914Sc.8740C>TSubstitution - Missense
BATF3ENSG00000123685ENST00000243440p.E80Ec.240G>ASubstitution - coding silent
NEK2ENSG00000117650ENST00000366999p.S387Nc.1160G>ASubstitution - Missense
NM_025228.1p.S90Fc.269C>TSubstitution - Missense
CR1LENSG00000197721ENST00000294997p.P351Lc.1052C>TSubstitution - Missense
PLXNA2ENSG00000076356ENST00000367033p.V1883Mc.5647G>ASubstitution - Missense
MAPKAPK2ENSG00000162889ENST00000294981p.L306Lc.916C>TSubstitution - coding silent
MAPKAPK2ENSG00000162889ENST00000367103p.L306Lc.916C>TSubstitution - coding silent
YOD1ENSG00000180667ENST00000367084p.L239Pc.716T>CSubstitution - Missense
YOD1ENSG00000180667ENST00000315927p.D269Hc.805G>CSubstitution - Missense
C4BPAENSG00000123838ENST00000367070p.L47Fc.139C>TSubstitution - Missense
MAGI2ENSG00000187391ENST00000354212p.G625Ec.1874G>ASubstitution - Missense
KCND2ENSG00000184408ENST00000331113p.S350Lc.1049C>TSubstitution - Missense
KRT83ENSG00000170523ENST00000293670p.C222*c.666C>ASubstitution - Nonsense
PTPRCENSG00000081237ENST00000442510p.P659Lc.1976C>TSubstitution - Missense
ZNF528ENSG00000167555ENST00000360465p.T345Mc.1034C>TSubstitution - Missense
DMDENSG00000198947ENST00000378677p.K1895fs*2c.5685delADeletion - Frameshift
DMDENSG00000198947ENST00000378677p.K1895fs*2c.5685delADeletion - Frameshift
CASRENSG00000036828ENST00000296154p.T732Ac.2194A>GSubstitution - Missense
GPC4ENSG00000076716ENST00000370828p.S310Lc.929C>TSubstitution - Missense
SLC13A5ENSG00000141485ENST00000433363p.A222Tc.664G>ASubstitution - Missense
TEKENSG00000120156ENST00000380036p.V1103Mc.3307G>ASubstitution - Missense
PDZD4ENSG00000067840ENST00000164640p.G344fs*63c.1031delGDeletion - Frameshift
TBC1D9ENSG00000109436ENST00000442267p.A850Tc.2548G>ASubstitution - Missense
KLBENSG00000134962ENST00000257408p.P940Sc.2818C>TSubstitution - Missense
DSCAMENSG00000171587ENST00000400454p.R1461Hc.4382G>ASubstitution - Missense
PRODHENSG00000100033ENST00000357068p.R453Hc.1358G>ASubstitution - Missense
IRS1ENSG00000169047ENST00000305123p.H598fs*38c.1791delGDeletion - Frameshift
MEGF8ENSG00000105429ENST00000251268p.R1294Qc.3881G>ASubstitution - Missense
NM_007023.1p.T732Tc.2196G>ASubstitution - coding silent
FFAR3ENSG00000185897ENST00000327809p.L31fs*27c.87delCDeletion - Frameshift
UACAENSG00000137831ENST00000322954p.E1081Kc.3241G>ASubstitution - Missense
APAF1ENSG00000120868ENST00000551964p.N602fs*8c.1798delADeletion - Frameshift
LYSTENSG00000143669ENST00000389793p.L192fs*1c.575delTDeletion - Frameshift
SRP68ENSG00000167881ENST00000307877p.S522Lc.1565C>TSubstitution - Missense
KIAA1462ENSG00000165757ENST00000375377p.P505Pc.1515C>TSubstitution - coding silent
MTPAPENSG00000107951ENST00000263063p.G563Rc.1687G>CSubstitution - Missense
MTPAPENSG00000107951ENST00000358107p.G693Rc.2077G>CSubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.?c.1774-3T>AUnknown
HIAT1ENSG00000156875ENST00000370152p.A198Vc.593C>TSubstitution - Missense
TRMT13ENSG00000122435ENST00000370141p.T456Sc.1366A>TSubstitution - Missense
DOCK9ENSG00000088387ENST00000448493p.?c.4135-10C>TUnknown
AGLENSG00000162688ENST00000370163p.Y47Hc.139T>CSubstitution - Missense
AGLENSG00000162688ENST00000370163p.?c.2309-1G>AUnknown
FARP1ENSG00000152767ENST00000319562p.Q461Rc.1382A>GSubstitution - Missense
FARP1ENSG00000152767ENST00000376586p.Q461Rc.1382A>GSubstitution - Missense
EDNRBENSG00000136160ENST00000377211p.D521Nc.1561G>ASubstitution - Missense
EDNRBENSG00000136160ENST00000334286p.D431Nc.1291G>ASubstitution - Missense
CLN5ENSG00000102805ENST00000377453p.Y342Cc.1025A>GSubstitution - Missense
NM_015057.1p.R3183Kc.9548G>ASubstitution - Missense
DTX1ENSG00000135144ENST00000257600p.R24Rc.72G>ASubstitution - coding silent
HECTD4ENSG00000173064ENST00000377560p.K3329Kc.9987G>ASubstitution - coding silent
ENST00000377560_v62p.K3579Kc.10737G>ASubstitution - coding silent
ATXN2ENSG00000204842ENST00000377617p.T934Ac.2800A>GSubstitution - Missense
ATXN2ENSG00000204842ENST00000377617p.P519Hc.1556C>ASubstitution - Missense
TMEM116ENSG00000198270ENST00000552374p.V68Ac.203T>CSubstitution - Missense
POLR3BENSG00000013503ENST00000228347p.R293Rc.879G>ASubstitution - coding silent
ATP7BENSG00000123191ENST00000242839p.E385Kc.1153G>ASubstitution - Missense
TRIM13ENSG00000204977ENST00000356017p.L325Fc.973C>TSubstitution - Missense
ZC3H13ENSG00000123200ENST00000282007p.H733Hc.2199C>TSubstitution - coding silent
GPALPP1ENSG00000133114ENST00000379151p.S42Nc.125G>ASubstitution - Missense
PEAK1ENSG00000173517ENST00000312493p.K936*c.2806A>TSubstitution - Nonsense
PEAK1ENSG00000173517ENST00000312493p.K936*c.2806A>TSubstitution - Nonsense
CSPG4ENSG00000173546ENST00000308508p.N1909Nc.5727C>TSubstitution - coding silent
ETFAENSG00000140374ENST00000557943p.V270Ic.808G>ASubstitution - Missense
ISL2ENSG00000159556ENST00000290759p.E226Vc.677A>TSubstitution - Missense
SCAPERENSG00000140386ENST00000538941p.V1040Vc.3120G>ASubstitution - coding silent
SCAPERENSG00000140386ENST00000324767p.V1286Vc.3858G>ASubstitution - coding silent
CYP1A2ENSG00000140505ENST00000343932p.?c.953-6G>AUnknown
LMAN1LENSG00000140506ENST00000309664p.L16Pc.47T>CSubstitution - Missense
LMAN1LENSG00000140506ENST00000309664p.P448Sc.1342C>TSubstitution - Missense
ARID3BENSG00000179361ENST00000346246p.?c.1165+6C>TUnknown
C15orf60ENSG00000183324ENST00000331090p.C241Cc.723C>TSubstitution - coding silent
NEO1ENSG00000067141ENST00000261908p.K1159Rc.3476A>GSubstitution - Missense
CSENSG00000062485ENST00000351328p.P210Sc.628C>TSubstitution - Missense
MMP19ENSG00000123342ENST00000322569p.F133Ic.397T>ASubstitution - Missense
ERBB3ENSG00000065361ENST00000267101p.T1254Ac.3760A>GSubstitution - Missense
GRAMD1BENSG00000023171ENST00000529750p.T604Tc.1812G>ASubstitution - coding silent
GRAMD1BENSG00000023171ENST00000322282p.T604Tc.1812G>ASubstitution - coding silent
TMEM225ENSG00000204300ENST00000375026p.Y142Nc.424T>ASubstitution - Missense
CRTAC1ENSG00000095713ENST00000370597p.R108Qc.323G>ASubstitution - Missense
BLNKENSG00000095585ENST00000224337p.W64*c.192G>ASubstitution - Nonsense
C10orf12ENSG00000155640ENST00000286067p.G333Rc.997G>ASubstitution - Missense
PLCE1ENSG00000138193ENST00000371375p.L1039Fc.3115C>TSubstitution - Missense
IFIT1BENSG00000204010ENST00000371809p.S454Nc.1361G>ASubstitution - Missense
IFIT5ENSG00000152778ENST00000371795p.V34Ic.100G>ASubstitution - Missense
ANKRD22ENSG00000152766ENST00000371930p.?c.22-7G>AUnknown
LDB3ENSG00000122367ENST00000429277p.S574Fc.1721C>TSubstitution - Missense
MMRN2ENSG00000173269ENST00000372027p.T512Tc.1536G>ASubstitution - coding silent
GRID1ENSG00000182771ENST00000327946p.?c.80-7C>TUnknown
TAF3ENSG00000165632ENST00000344293p.H926Pc.2777A>CSubstitution - Missense
DLG5ENSG00000151208ENST00000372391p.Q983Qc.2949G>ASubstitution - coding silent
USP54ENSG00000166348ENST00000408019p.G10Gc.30G>ASubstitution - coding silent
OBSCNENSG00000154358ENST00000570156p.A940Pc.2818G>CSubstitution - Missense
SU_OBSCN.1p.A940Pc.2818G>CSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.A940Pc.2818G>CSubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.A940Pc.2818G>CSubstitution - Missense
MIXL1ENSG00000185155ENST00000366810p.R107Wc.319C>TSubstitution - Missense
PARP1ENSG00000143799ENST00000366794p.?c.2787-10T>CUnknown
ITPKBENSG00000143772ENST00000429204p.S252Pc.754T>CSubstitution - Missense
CDC42BPAENSG00000143776ENST00000366767p.?c.4391+4G>AUnknown
SDE2ENSG00000143751ENST00000272091p.V272Mc.814G>ASubstitution - Missense
NM_152608.2p.V260Mc.778G>ASubstitution - Missense
CNIH3ENSG00000143786ENST00000272133p.A18Ac.54T>CSubstitution - coding silent
IARS2ENSG00000067704ENST00000302637p.P690Sc.2068C>TSubstitution - Missense
RRP15ENSG00000067533ENST00000366932p.T88Ic.263C>TSubstitution - Missense
ITGB1ENSG00000150093ENST00000423113p.G470Gc.1410C>TSubstitution - coding silent
PFKPENSG00000067057ENST00000381125p.?c.870+5G>AUnknown
PFKPENSG00000067057ENST00000381075p.?c.846+5G>AUnknown
ENST00000359888p.E97Kc.289G>ASubstitution - Missense
PFKPENSG00000067057ENST00000381075p.A590Sc.1768G>TSubstitution - Missense
PFKPENSG00000067057ENST00000381075p.E734Ec.2202G>ASubstitution - coding silent
SU_OBSCN.1p.A5566Ac.16698C>TSubstitution - coding silent
OBSCNENSG00000154358ENST00000284548p.A4984Ac.14952C>TSubstitution - coding silent
AICDAENSG00000111732ENST00000229335p.?c.8+3A>CUnknown
CEP290ENSG00000198707ENST00000552810p.E1479Ec.4437G>ASubstitution - coding silent
A2ML1ENSG00000166535ENST00000299698p.N120Sc.359A>GSubstitution - Missense
FOXJ2ENSG00000065970ENST00000162391p.K86Kc.258G>ASubstitution - coding silent
TMTC2ENSG00000179104ENST00000321196p.L699Lc.2097C>TSubstitution - coding silent
ENST00000307147p.E120Kc.358G>ASubstitution - Missense
MYF6ENSG00000111046ENST00000228641p.S221Fc.662C>TSubstitution - Missense
BBS10ENSG00000179941ENST00000393262p.E481Kc.1441G>ASubstitution - Missense
CSRP2ENSG00000175183ENST00000311083p.R87Kc.260G>ASubstitution - Missense
TAPBPLENSG00000139192ENST00000266556p.H172Yc.514C>TSubstitution - Missense
VWFENSG00000110799ENST00000261405p.T20Ic.59C>TSubstitution - Missense
STAT6ENSG00000166888ENST00000300134p.G31Sc.91G>ASubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.D1385Nc.4153G>ASubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.S1760Nc.5279G>ASubstitution - Missense
NACAENSG00000196531ENST00000454682p.G952Ec.2855G>ASubstitution - Missense
OR10Z1ENSG00000198967ENST00000361284p.T57Tc.171C>TSubstitution - coding silent
ENST00000368148p.D295Yc.883G>TSubstitution - Missense
OR6K2ENSG00000196171ENST00000359610p.I63Nc.188T>ASubstitution - Missense
BCANENSG00000132692ENST00000329117p.T558Ic.1673C>TSubstitution - Missense
OR4C5ENSG00000176540ENST00000319813p.V286Mc.856G>ASubstitution - Missense
ENST00000330155p.C180Cc.540C>TSubstitution - coding silent
ENST00000402751p.W346Rc.1036T>ASubstitution - Missense
PTPRJENSG00000149177ENST00000418331p.C1039Yc.3116G>ASubstitution - Missense
LRP4ENSG00000134569ENST00000378623p.Q118Qc.354G>ASubstitution - coding silent
DDB2ENSG00000134574ENST00000256996p.V263Ic.787G>ASubstitution - Missense
AMBRA1ENSG00000110497ENST00000314845p.G127Sc.379G>ASubstitution - Missense
AMBRA1ENSG00000110497ENST00000458649p.G127Sc.379G>ASubstitution - Missense
PHF21AENSG00000135365ENST00000418153p.A240Ac.720C>TSubstitution - coding silent
OR52I1ENSG00000232268ENST00000450052p.L346Qc.1037T>ASubstitution - Missense
PRDM11ENSG00000019485ENST00000263765p.?c.221+8C>TUnknown
CRY2ENSG00000121671ENST00000443527p.P574Tc.1720C>ASubstitution - Missense
SIGIRRENSG00000185187ENST00000397632p.E158Kc.472G>ASubstitution - Missense
STIM1ENSG00000167323ENST00000300737p.E289Ec.867G>ASubstitution - coding silent
FAM118BENSG00000197798ENST00000533050p.G325Dc.974G>ASubstitution - Missense
ST3GAL4ENSG00000110080ENST00000227495p.R226Qc.677G>ASubstitution - Missense
BCCIPENSG00000107949ENST00000299130p.K46Kc.138G>ASubstitution - coding silent
FAM175BENSG00000165660ENST00000298492p.P123Lc.368C>TSubstitution - Missense
GAB2ENSG00000033327ENST00000361507p.?c.1888-7C>TUnknown
C2CD3ENSG00000168014ENST00000334126p.G2165Sc.6493G>ASubstitution - Missense
INPPL1ENSG00000165458ENST00000298229p.P1165Lc.3494C>TSubstitution - Missense
TICRRENSG00000140534ENST00000268138p.E868Ec.2604G>ASubstitution - coding silent
AKAP13ENSG00000170776ENST00000394518p.E323Kc.967G>ASubstitution - Missense
SH3GL3ENSG00000140600ENST00000427482p.R164Cc.490C>TSubstitution - Missense
SH3GL3ENSG00000140600ENST00000427482p.R165Hc.494G>ASubstitution - Missense
TMC3ENSG00000188869ENST00000359440p.?c.1194-2A>GUnknown
CPEB1ENSG00000214575ENST00000568128p.?c.1400-2A>TUnknown
CPEB1ENSG00000214575ENST00000398591p.?c.1190-2A>TUnknown
CPEB1ENSG00000214575ENST00000398591p.?c.1190-5C>TUnknown
AP3B2ENSG00000103723ENST00000261722p.E590Kc.1768G>ASubstitution - Missense
BNC1ENSG00000169594ENST00000345382p.R607Mc.1820G>TSubstitution - Missense
FAHENSG00000103876ENST00000261755p.K382Kc.1146G>ASubstitution - coding silent
TMC3ENSG00000188869ENST00000359440p.Y642Nc.1924T>ASubstitution - Missense
SCN8AENSG00000196876ENST00000354534p.S399Yc.1196C>ASubstitution - Missense
GALNT6ENSG00000139629ENST00000356317p.V200Ic.598G>ASubstitution - Missense
NM_175736.3p.Q737*c.2209C>TSubstitution - Nonsense
ABCC9ENSG00000069431ENST00000261200p.?c.1659+7C>TUnknown
CACNA2D4ENSG00000151062ENST00000382722p.P266Pc.798T>ASubstitution - coding silent
RERGLENSG00000111404ENST00000229002p.K67Qc.199A>CSubstitution - Missense
ERP27ENSG00000139055ENST00000266397p.A25Ac.75A>TSubstitution - coding silent
ZNF26ENSG00000198393ENST00000328654p.R465Kc.1394G>ASubstitution - Missense
IRF2BP2ENSG00000168264ENST00000366609p.G437Dc.1310G>ASubstitution - Missense
PCNXL2ENSG00000135749ENST00000258229p.T1635Ic.4904C>TSubstitution - Missense
ENST00000344698_v71p.T287Ic.860C>TSubstitution - Missense
DISC1ENSG00000162946ENST00000366633p.A174Ac.522A>CSubstitution - coding silent
ENST00000366638p.A174Ac.522A>CSubstitution - coding silent
GNPATENSG00000116906ENST00000366647p.G215Dc.644G>ASubstitution - Missense
SPRTNENSG00000010072ENST00000295050p.R189Wc.565A>TSubstitution - Missense
ACTA1ENSG00000143632ENST00000366684p.R41fs*27c.121delCDeletion - Frameshift
GALNT2ENSG00000143641ENST00000366672p.Q106Hc.318G>TSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.R6638Cc.19912C>TSubstitution - Missense
SU_OBSCN.1p.R6508Cc.19522C>TSubstitution - Missense
SU_OBSCN.1p.V6662Vc.19986G>ASubstitution - coding silent
OBSCNENSG00000154358ENST00000284548p.V6080Vc.18240G>ASubstitution - coding silent
SU_OBSCN.1p.G5394Sc.16180G>ASubstitution - Missense
PPFIA1ENSG00000131626ENST00000253925p.?c.3042-7C>GUnknown
SHANK2ENSG00000162105ENST00000357171p.Y18Yc.54C>TSubstitution - coding silent
ZNF215ENSG00000149054ENST00000278319p.?c.483+9_673del1941Unknown
KDM2AENSG00000173120ENST00000529006p.T454Tc.1362C>TSubstitution - coding silent
ANKRD13DENSG00000172932ENST00000511455p.P326Pc.978C>ASubstitution - coding silent
ENST00000451458p.N410Nc.1230C>TSubstitution - coding silent
DCHS1ENSG00000166341ENST00000299441p.A2479Vc.7436C>TSubstitution - Missense
C11orf80ENSG00000173715ENST00000360962p.E262Kc.784G>ASubstitution - Missense
TTC9CENSG00000162222ENST00000316461p.L83Fc.247C>TSubstitution - Missense
OR52W1ENSG00000175485ENST00000311352p.P84Sc.250C>TSubstitution - Missense
DDB1ENSG00000167986ENST00000301764p.E787Kc.2359G>ASubstitution - Missense
TMEM132AENSG00000006118ENST00000005286p.L705Lc.2113C>TSubstitution - coding silent
TMEM132AENSG00000006118ENST00000005286p.L705Lc.2113C>TSubstitution - coding silent
OR4D9ENSG00000172742ENST00000329328p.S114fs*8c.340_341insTInsertion - Frameshift
STRN3ENSG00000196792ENST00000357479p.E259Kc.775G>ASubstitution - Missense
ZFP91-CNTFENSG00000255073ENST00000389919p.A388Tc.1162G>ASubstitution - Missense
GLYATENSG00000149124ENST00000344743p.N39Hc.115A>CSubstitution - Missense
RABGGTAENSG00000100949ENST00000399409p.P290Sc.868C>TSubstitution - Missense
NM_005484.2p.?c.493-1G>TUnknown
PACS2ENSG00000179364ENST00000325438p.I587Vc.1759A>GSubstitution - Missense
PACS2ENSG00000179364ENST00000325438p.E622Ec.1866G>ASubstitution - coding silent
OR4K5ENSG00000176281ENST00000315915p.S321Yc.962C>ASubstitution - Missense
CDCA4ENSG00000170779ENST00000392590p.G212Sc.634G>ASubstitution - Missense
JAG2ENSG00000184916ENST00000331782p.?c.2594-7C>TUnknown
AHNAK2ENSG00000185567ENST00000333244p.G3881Sc.11641G>ASubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.L2676Lc.8028G>ASubstitution - coding silent
KIF26AENSG00000066735ENST00000423312p.T1252Ic.3755C>TSubstitution - Missense
INF2ENSG00000203485ENST00000392634p.P609Lc.1826C>TSubstitution - Missense
CEP170BENSG00000099814ENST00000414716p.R220Wc.658C>TSubstitution - Missense
RCOR1ENSG00000089902ENST00000570597p.?c.849+4deltUnknown
TTC40ENSG00000171811ENST00000368586p.?c.7188+8G>TUnknown
DPYSL4ENSG00000151640ENST00000338492p.?c.1111-6C>TUnknown
CLRN3ENSG00000180745ENST00000368671p.T131Sc.391A>TSubstitution - Missense
MKI67ENSG00000148773ENST00000368654p.K2000Kc.6000G>ASubstitution - coding silent
NM_001380.2p.G356Gc.1068G>ASubstitution - coding silent
NM_001380.2p.Y1541Yc.4623C>TSubstitution - coding silent
KIF21AENSG00000139116ENST00000395670p.R176Kc.527G>ASubstitution - Missense
KIF21AENSG00000139116ENST00000361961p.T1065Ac.3193A>GSubstitution - Missense
HCFC2ENSG00000111727ENST00000229330p.P790Sc.2368C>TSubstitution - Missense
SLC5A8ENSG00000256870ENST00000536262p.?c.1234-9T>CUnknown
WEE1ENSG00000166483ENST00000450114p.?c.847-7A>CUnknown
WEE1ENSG00000166483ENST00000450114p.N290Sc.869A>GSubstitution - Missense
CEP57ENSG00000166037ENST00000325542p.D395Dc.1185C>TSubstitution - coding silent
GSTO1ENSG00000148834ENST00000369713p.E145Gc.434A>GSubstitution - Missense
CCDC147ENSG00000120051ENST00000369704p.L679Fc.2035C>TSubstitution - Missense
PDCD11ENSG00000148843ENST00000369797p.?c.5124+7G>TUnknown
COL17A1ENSG00000065618ENST00000353479p.T224Ic.671C>TSubstitution - Missense
SEMA4GENSG00000095539ENST00000210633p.S498Gc.1492A>GSubstitution - Missense
LZTS2ENSG00000107816ENST00000370220p.E419Kc.1255G>ASubstitution - Missense
ENST00000393462p.A898fs*63c.2692_2693insGInsertion - Frameshift
SFXN3ENSG00000107819ENST00000224807p.W125*c.374G>ASubstitution - Nonsense
DPCDENSG00000166171ENST00000370151p.?c.65-8G>AUnknown
LOXL4ENSG00000138131ENST00000260702p.G278Sc.832G>ASubstitution - Missense
INPP5FENSG00000198825ENST00000369083p.L102Fc.304C>TSubstitution - Missense
NUDT5ENSG00000165609ENST00000491614p.E2Ec.6G>ASubstitution - coding silent
FAM45AENSG00000119979ENST00000361432p.G236Rc.706G>ASubstitution - Missense
SFXN4ENSG00000183605ENST00000355697p.F56Lc.166T>CSubstitution - Missense
GRK5ENSG00000198873ENST00000392870p.T404Mc.1211C>TSubstitution - Missense
SLC18A2ENSG00000165646ENST00000298472p.F238fs*48c.705delCDeletion - Frameshift
TDRD1ENSG00000095627ENST00000251864p.A1047Ac.3141G>ASubstitution - coding silent
GFRA1ENSG00000151892ENST00000369236p.K274Kc.822G>ASubstitution - coding silent
SMC3ENSG00000108055ENST00000361804p.N716Kc.2148C>ASubstitution - Missense
ZNF669ENSG00000188295ENST00000343381p.R150Kc.449G>ASubstitution - Missense
SDCCAG8ENSG00000054282ENST00000366541p.G280Vc.839G>TSubstitution - Missense
WDR64ENSG00000162843ENST00000366552p.A12Tc.34G>ASubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.K4601fs*1c.13795_13796insTInsertion - Frameshift
CCDC168ENSG00000175820ENST00000322527p.S2445Sc.7335C>TSubstitution - coding silent
TEX30ENSG00000151287ENST00000376032p.S193Fc.578C>TSubstitution - Missense
TEX30ENSG00000151287ENST00000376019p.S152Fc.455C>TSubstitution - Missense
BIVMENSG00000134897ENST00000257336p.P86Sc.256C>TSubstitution - Missense
NTN4ENSG00000074527ENST00000343702p.C576Cc.1728C>TSubstitution - coding silent
PLXNC1ENSG00000136040ENST00000258526p.K1019Nc.3057A>TSubstitution - Missense
PLXNC1ENSG00000136040ENST00000258526p.F1026Fc.3078C>TSubstitution - coding silent
BTG1ENSG00000133639ENST00000256015p.?c.148+5G>AUnknown
BTG1ENSG00000133639ENST00000256015p.Q36Hc.108G>TSubstitution - Missense
BTG1ENSG00000133639ENST00000256015p.R27Rc.81C>TSubstitution - coding silent
RGS16ENSG00000143333ENST00000367558p.K109*c.325A>TSubstitution - Nonsense
QSOX1ENSG00000116260ENST00000367602p.?c.266-2A>TUnknown
AXDND1ENSG00000162779ENST00000367618p.R460Gc.1378A>GSubstitution - Missense
SEC16BENSG00000120341ENST00000308284p.R142Rc.426G>TSubstitution - coding silent
SYT8ENSG00000149043ENST00000381968p.V60Gc.179T>GSubstitution - Missense
MRGPRX1ENSG00000170255ENST00000302797p.S176Sc.528A>CSubstitution - coding silent
SOX6ENSG00000110693ENST00000527619p.?c.6-5T>AUnknown
PIK3C2AENSG00000011405ENST00000265970p.R582Kc.1745G>ASubstitution - Missense
KRTAP5-1ENSG00000205869ENST00000382171p.P133Pc.399T>ASubstitution - coding silent
ENST00000321016_v61p.D645Nc.1933G>ASubstitution - Missense
ACAD8ENSG00000151498ENST00000543332p.L221Lc.663G>ASubstitution - coding silent
NOS1APENSG00000198929ENST00000361897p.?c.177+1G>AUnknown
TOMM40LENSG00000158882ENST00000367987p.?c.277-10C>AUnknown
KCNJ10ENSG00000177807ENST00000368089p.A292Tc.874G>ASubstitution - Missense
TJP1ENSG00000104067ENST00000346128p.?c.2017+1G>TUnknown
NM_004667.3p.A3435Tc.10303G>ASubstitution - Missense
UBE3AENSG00000114062ENST00000397954p.D530Dc.1590C>TSubstitution - coding silent
STK40ENSG00000196182ENST00000373129p.I332Nc.995T>ASubstitution - Missense
STK40ENSG00000196182ENST00000373129p.I332Nc.995T>ASubstitution - Missense
STK40ENSG00000196182ENST00000359297p.I332Nc.995T>ASubstitution - Missense
TEKT2ENSG00000092850ENST00000207457p.E115Dc.345G>TSubstitution - Missense
RC3H1ENSG00000135870ENST00000258349p.V223Ic.667G>ASubstitution - Missense
RABGAP1LENSG00000152061ENST00000251507p.D598Nc.1792G>ASubstitution - Missense
PRRC2CENSG00000117523ENST00000392078p.F1651Fc.4953T>CSubstitution - coding silent
ENST00000367790p.P512Sc.1534C>TSubstitution - Missense
CCDC181ENSG00000117477ENST00000367805p.K419*c.1255A>TSubstitution - Nonsense
ATP8A2ENSG00000132932ENST00000381655p.L730Lc.2188C>TSubstitution - coding silent
COL2A1ENSG00000139219ENST00000337299p.P64Lc.191C>TSubstitution - Missense
SLC38A4ENSG00000139209ENST00000266579p.V471Mc.1411G>ASubstitution - Missense
AKAP3ENSG00000111254ENST00000545990p.E801Kc.2401G>ASubstitution - Missense
RPAP3ENSG00000005175ENST00000005386p.?c.667+8C>AUnknown
HDAC7ENSG00000061273ENST00000080059p.Y628Yc.1884C>TSubstitution - coding silent
ANO6ENSG00000177119ENST00000320560p.?c.2218-4A>GUnknown
ANO6ENSG00000177119ENST00000320560p.A744Ac.2232T>CSubstitution - coding silent
ANO6ENSG00000177119ENST00000425752p.Y755Fc.2264A>TSubstitution - Missense
ANO6ENSG00000177119ENST00000425752p.Y797Nc.2389T>ASubstitution - Missense
ANO6ENSG00000177119ENST00000320560p.Y797Nc.2389T>ASubstitution - Missense
FGF23ENSG00000118972ENST00000237837p.W9Rc.25T>ASubstitution - Missense
MAGI3ENSG00000081026ENST00000307546p.V635Vc.1905G>ASubstitution - coding silent
MAGI3ENSG00000081026ENST00000369615p.V635Vc.1905G>ASubstitution - coding silent
STRIP1ENSG00000143093ENST00000369795p.G446Gc.1338T>CSubstitution - coding silent
SLC6A17ENSG00000197106ENST00000331565p.L229Qc.686T>ASubstitution - Missense
KCNC4ENSG00000116396ENST00000369787p.R152Hc.455G>ASubstitution - Missense
KCNC4ENSG00000116396ENST00000438661p.R152Hc.455G>ASubstitution - Missense
CLCC1ENSG00000121940ENST00000369971p.Q492Kc.1474C>ASubstitution - Missense
CLCC1ENSG00000121940ENST00000369970p.Q442Kc.1324C>ASubstitution - Missense
CLCC1ENSG00000121940ENST00000369971p.E408Kc.1222G>ASubstitution - Missense
KIAA1549LENSG00000110427ENST00000321505p.A912Vc.2735C>TSubstitution - Missense
KIAA1549LENSG00000110427ENST00000321505p.?c.4870-10T>CUnknown
THENSG00000180176ENST00000381178p.P4Lc.11C>TSubstitution - Missense
MUC2ENSG00000198788ENST00000441003p.V473Gc.1418T>GSubstitution - Missense
MUC2ENSG00000198788ENST00000359061p.V473Gc.1418T>GSubstitution - Missense
MSANTD4ENSG00000170903ENST00000301919p.P178Pc.534C>TSubstitution - coding silent
MRVI1ENSG00000072952ENST00000547195p.A71Tc.211G>ASubstitution - Missense
MRVI1ENSG00000072952ENST00000436272p.A153Tc.457G>ASubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.Y1019Yc.3057C>TSubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.Y1019Yc.3057C>TSubstitution - coding silent
USP47ENSG00000170242ENST00000339865p.G896*c.2686G>TSubstitution - Nonsense
USP47ENSG00000170242ENST00000339865p.T1258Ic.3773C>TSubstitution - Missense
DPAGT1ENSG00000172269ENST00000354202p.V265Mc.793G>ASubstitution - Missense
TRAPPC4ENSG00000196655ENST00000533632p.G60Dc.179G>ASubstitution - Missense
TTC12ENSG00000149292ENST00000529221p.L386Vc.1156T>GSubstitution - Missense
TMPRSS5ENSG00000166682ENST00000299882p.A59Ac.177C>TSubstitution - coding silent
CD163L1ENSG00000177675ENST00000313599p.T883Tc.2649T>ASubstitution - coding silent
TRHDEENSG00000072657ENST00000261180p.H652Rc.1955A>GSubstitution - Missense
PTPRBENSG00000127329ENST00000261266p.S908Gc.2722A>GSubstitution - Missense
LRRC23ENSG00000010626ENST00000323702p.D3Nc.7G>ASubstitution - Missense
NUP107ENSG00000111581ENST00000229179p.I514Tc.1541T>CSubstitution - Missense
ENST00000396725_v65p.L480Lc.1438C>TSubstitution - coding silent
GNB3ENSG00000111664ENST00000229264p.E260Kc.778G>ASubstitution - Missense
CHD4ENSG00000111642ENST00000357008p.G1481Dc.4442G>ASubstitution - Missense
CHD4ENSG00000111642ENST00000309577p.G1509Dc.4526G>ASubstitution - Missense
NCF2ENSG00000116701ENST00000367536p.D27Nc.79G>ASubstitution - Missense
RGL1ENSG00000143344ENST00000304685p.L619fs*3c.1853_1854insAInsertion - Frameshift
EDEM3ENSG00000116406ENST00000318130p.N273Ic.818A>TSubstitution - Missense
ENST00000399953_v65p.P347Sc.1039C>TSubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.R1284Hc.3851G>ASubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.R1284Hc.3851G>ASubstitution - Missense
TXNDC11ENSG00000153066ENST00000356957p.W701fs*3c.2101delTDeletion - Frameshift
TEKT5ENSG00000153060ENST00000283025p.R103Hc.308G>ASubstitution - Missense
TXNDC11ENSG00000153066ENST00000283033p.W674fs*3c.2020delTDeletion - Frameshift
FAM174BENSG00000185442ENST00000327355p.P132Tc.394C>ASubstitution - Missense
FESENSG00000182511ENST00000328850p.R246Qc.737G>ASubstitution - Missense
TMEM63CENSG00000165548ENST00000298351p.R762Kc.2285G>ASubstitution - Missense
SNW1ENSG00000100603ENST00000261531p.V278Ic.832G>ASubstitution - Missense
FLVCR2ENSG00000119686ENST00000238667p.C162Cc.486C>TSubstitution - coding silent
C14orf166BENSG00000100565ENST00000393774p.Q448*c.1342C>TSubstitution - Nonsense
SU_SK473p.N286Nc.858C>TSubstitution - coding silent
COQ6ENSG00000119723ENST00000334571p.T34Ic.101C>TSubstitution - Missense
HEATR4ENSG00000187105ENST00000334988p.T274Tc.822G>ASubstitution - coding silent
SLC8A3ENSG00000100678ENST00000381269p.I531Vc.1591A>GSubstitution - Missense
SLC8A3ENSG00000100678ENST00000357887p.I531Vc.1591A>GSubstitution - Missense
SYNJ2BPENSG00000213463ENST00000256366p.A54Tc.160G>ASubstitution - Missense
RAD51BENSG00000182185ENST00000487270p.T299Ic.896C>TSubstitution - Missense
ACTN1ENSG00000072110ENST00000193403p.A456Dc.1367C>ASubstitution - Missense
DCAF5ENSG00000139990ENST00000341516p.R836Hc.2507G>ASubstitution - Missense
MYO3AENSG00000095777ENST00000265944p.?c.798-9C>TUnknown
MYO3AENSG00000095777ENST00000543632p.?c.798-9C>TUnknown
ZMYND11ENSG00000015171ENST00000381584p.G70Vc.209G>TSubstitution - Missense
PRTFDC1ENSG00000099256ENST00000320152p.R224*c.670C>TSubstitution - Nonsense
VIMENSG00000026025ENST00000544301p.T458Ac.1372A>GSubstitution - Missense
DCLRE1CENSG00000152457ENST00000378278p.P657Lc.1970C>TSubstitution - Missense
DCLRE1CENSG00000152457ENST00000378246p.P542Lc.1625C>TSubstitution - Missense
IFT140ENSG00000187535ENST00000426508p.P567Sc.1699C>TSubstitution - Missense
CRAMP1LENSG00000007545ENST00000397412p.G1259*c.3775G>TSubstitution - Nonsense
KIF14ENSG00000118193ENST00000367350p.T277Ac.829A>GSubstitution - Missense
PTPRCENSG00000081237ENST00000442510p.E1241Kc.3721G>ASubstitution - Missense
KLHDC7AENSG00000179023ENST00000400664p.R41Mc.122G>TSubstitution - Missense
PTGS2ENSG00000073756ENST00000367468p.L553Fc.1657C>TSubstitution - Missense
PTGS2ENSG00000073756ENST00000367468p.L553Fc.1657C>TSubstitution - Missense
TXNIPENSG00000117289ENST00000369317p.G29Dc.86G>ASubstitution - Missense
ITGA10ENSG00000143127ENST00000369304p.?c.2745-6C>AUnknown
FRMD5ENSG00000171877ENST00000417257p.Q40Kc.118C>ASubstitution - Missense
ZNF106ENSG00000103994ENST00000263805p.G155Dc.464G>ASubstitution - Missense
TTBK2ENSG00000128881ENST00000267890p.R120Rc.360G>ASubstitution - coding silent
UBR1ENSG00000159459ENST00000290650p.F1344fs*11c.4030_4033delTTTGDeletion - Frameshift
UBR1ENSG00000159459ENST00000290650p.G94Rc.280G>ASubstitution - Missense
ADCY10ENSG00000143199ENST00000367851p.A834Ac.2502C>TSubstitution - coding silent
DCAF6ENSG00000143164ENST00000367843p.T385Tc.1155G>ASubstitution - coding silent
CGNENSG00000143375ENST00000271636p.S388Sc.1164C>TSubstitution - coding silent
MTMR11ENSG00000014914ENST00000439741p.P537Pc.1611A>TSubstitution - coding silent
MTMR11ENSG00000014914ENST00000369140p.P465Pc.1395A>TSubstitution - coding silent
ZNF697ENSG00000143067ENST00000421812p.W300*c.900G>ASubstitution - Nonsense
IGSF3ENSG00000143061ENST00000369483p.N512Dc.1534A>GSubstitution - Missense
CLIP1ENSG00000130779ENST00000358808p.G1345Rc.4033G>ASubstitution - Missense
ORAI1ENSG00000182500ENST00000330079p.T228Ic.683C>TSubstitution - Missense
COQ5ENSG00000110871ENST00000288532p.G188Rc.562G>ASubstitution - Missense
GCN1L1ENSG00000089154ENST00000300648p.V490Ic.1468G>ASubstitution - Missense
CCDC60ENSG00000183273ENST00000327554p.R74Rc.222G>ASubstitution - coding silent
PRB1ENSG00000251655ENST00000500254p.P61Sc.181C>TSubstitution - Missense
CCDC42BENSG00000186710ENST00000335621p.Q65Hc.195G>CSubstitution - Missense
FAM183AENSG00000186973ENST00000335282p.V92Ic.274G>ASubstitution - Missense
RLFENSG00000117000ENST00000372771p.R1066Rc.3198C>TSubstitution - coding silent
RIMS3ENSG00000117016ENST00000372683p.L190Pc.569T>CSubstitution - Missense
CTPS1ENSG00000171793ENST00000372621p.?c.1006-3C>TUnknown
CTPS1ENSG00000171793ENST00000372621p.?c.1006-3C>TUnknown
MACF1ENSG00000127603ENST00000361689p.?c.10702+1G>AUnknown
MFSD2AENSG00000168389ENST00000372811p.V205Vc.615G>CSubstitution - coding silent
MACF1ENSG00000127603ENST00000360115p.G927Dc.2780G>ASubstitution - Missense
CDCA8ENSG00000134690ENST00000373055p.Y212Yc.636C>TSubstitution - coding silent
CTSWENSG00000172543ENST00000307886p.G21Cc.61G>TSubstitution - Missense
FIBPENSG00000172500ENST00000338369p.?c.668-6T>AUnknown
EHBP1L1ENSG00000173442ENST00000309295p.D87Nc.259G>ASubstitution - Missense
MAP3K11ENSG00000173327ENST00000309100p.P150Sc.448C>TSubstitution - Missense
PLCB3ENSG00000149782ENST00000279230p.R154Hc.461G>ASubstitution - Missense
CCDC88BENSG00000168071ENST00000359902p.E25*c.73G>TSubstitution - Nonsense
C11orf84ENSG00000168005ENST00000294244p.P222Lc.665C>TSubstitution - Missense
SCTENSG00000070031ENST00000176195p.A112Vc.335C>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000347598p.?c.5589-1G>TUnknown
CACNA1CENSG00000151067ENST00000344100p.?c.5568-1G>TUnknown
CACNA1CENSG00000151067ENST00000399617p.?c.5550-1G>TUnknown
CACNA1CENSG00000151067ENST00000399634p.?c.5658-1G>TUnknown
ENST00000322367p.?c.4050-1G>TUnknown
TUBGCP5ENSG00000153575ENST00000283645p.K663Kc.1989G>ASubstitution - coding silent
C2CD5ENSG00000111731ENST00000333957p.L750Vc.2248C>GSubstitution - Missense
ENST00000344371p.?c.419+9G>AUnknown
ADAMTS17ENSG00000140470ENST00000268070p.D842Dc.2526C>TSubstitution - coding silent
LRRK1ENSG00000154237ENST00000284395p.F1044fs*32c.3128delTDeletion - Frameshift
NINENSG00000100503ENST00000382041p.S27Sc.81C>TSubstitution - coding silent
SOS2ENSG00000100485ENST00000216373p.A1195Vc.3584C>TSubstitution - Missense
ENST00000355846p.?c.87+7G>AUnknown
PRPF39ENSG00000185246ENST00000355765p.L498Lc.1492C>TSubstitution - coding silent
ENST00000355846p.L377Lc.1129C>TSubstitution - coding silent
CLEC14AENSG00000176435ENST00000342213p.R249Gc.745A>GSubstitution - Missense
RALGAPA1ENSG00000174373ENST00000307138p.V889Mc.2665G>ASubstitution - Missense
PRKAA2ENSG00000162409ENST00000371244p.T485Ac.1453A>GSubstitution - Missense
C1orf168ENSG00000187889ENST00000343433p.?c.2132-8T>CUnknown
USP24ENSG00000162402ENST00000294383p.Q1844Lc.5531A>TSubstitution - Missense
XM_371254.3p.Q1761Lc.5282A>TSubstitution - Missense
LRRC42ENSG00000116212ENST00000319223p.L232Lc.696T>CSubstitution - coding silent
ZCCHC11ENSG00000134744ENST00000257177p.R1040Kc.3119G>ASubstitution - Missense
ECHDC2ENSG00000121310ENST00000358358p.V89Mc.265G>ASubstitution - Missense
FOXE3ENSG00000186790ENST00000335071p.P133Hc.398C>ASubstitution - Missense
NM_007170p.P381Lc.1142C>TSubstitution - Missense
MYEF2ENSG00000104177ENST00000324324p.T410Ic.1229C>TSubstitution - Missense
DUOX1ENSG00000137857ENST00000389037p.?c.2819-8C>TUnknown
WDR76ENSG00000092470ENST00000263795p.S179Fc.536C>TSubstitution - Missense
FRMD5ENSG00000171877ENST00000417257p.H49Lc.146A>TSubstitution - Missense
SYTL2ENSG00000137501ENST00000316356p.?c.2278-8C>TUnknown
DLG2ENSG00000150672ENST00000280241p.A177Ac.531A>GSubstitution - coding silent
DLG2ENSG00000150672ENST00000398309p.A138Ac.414A>GSubstitution - coding silent
RPLP2ENSG00000177600ENST00000321153p.?c.172+5G>AUnknown
NEDD4ENSG00000069869ENST00000338963p.L140Fc.418C>TSubstitution - Missense
TCF12ENSG00000140262ENST00000438423p.V418Vc.1254C>TSubstitution - coding silent
TCF12ENSG00000140262ENST00000452095p.V414Vc.1242C>TSubstitution - coding silent
MYO5AENSG00000197535ENST00000399231p.Q421Qc.1263G>ASubstitution - coding silent
LEO1ENSG00000166477ENST00000299601p.E233Kc.697G>ASubstitution - Missense
SECISBP2LENSG00000138593ENST00000559471p.D406Nc.1216G>ASubstitution - Missense
SECISBP2LENSG00000138593ENST00000261847p.D361Nc.1081G>ASubstitution - Missense
CTSEENSG00000196188ENST00000360218p.P284Sc.850C>TSubstitution - Missense
KLHDC8AENSG00000162873ENST00000367155p.Y100*c.300C>GSubstitution - Nonsense
CNTN2ENSG00000184144ENST00000331830p.P37Pc.111T>ASubstitution - coding silent
ZC3H11AENSG00000058673ENST00000367210p.S713Lc.2138C>TSubstitution - Missense
PPFIA4ENSG00000143847ENST00000272198p.G576Ec.1727G>ASubstitution - Missense
XM_046751.7p.G1206Ec.3617G>ASubstitution - Missense
BTG2ENSG00000159388ENST00000475157p.D8Nc.22G>ASubstitution - Missense
RNPEPENSG00000176393ENST00000295640p.?c.855-5G>AUnknown
ELF3ENSG00000163435ENST00000359651p.P270Sc.808C>TSubstitution - Missense
LGR6ENSG00000133067ENST00000367278p.V899Vc.2697G>ASubstitution - coding silent
NM_032105.1p.S987Sc.2961G>ASubstitution - coding silent
IGFN1ENSG00000163395ENST00000335211p.P165Pc.495A>GSubstitution - coding silent
TNNT2ENSG00000118194ENST00000458432p.?c.606+10G>AUnknown
TNNT2ENSG00000118194ENST00000367322p.M182Kc.545T>ASubstitution - Missense
LMOD1ENSG00000163431ENST00000367288p.P306Sc.916C>TSubstitution - Missense
ENST00000367349p.P313Sc.937C>TSubstitution - Missense
CACNA1SENSG00000081248ENST00000362061p.R12Sc.36G>TSubstitution - Missense
GON4LENSG00000116580ENST00000361040p.K1412Mc.4235A>TSubstitution - Missense
GON4LENSG00000116580ENST00000361040p.K839Kc.2517G>ASubstitution - coding silent
FAM189BENSG00000160767ENST00000361361p.G309Sc.925G>ASubstitution - Missense
RUSC1ENSG00000160753ENST00000292254p.A245Ac.735T>CSubstitution - coding silent
YY1AP1ENSG00000163374ENST00000368339p.P799Pc.2397C>TSubstitution - coding silent
YY1AP1ENSG00000163374ENST00000295566p.P707Pc.2121C>TSubstitution - coding silent
DCST2ENSG00000163354ENST00000368424p.W188*c.564G>ASubstitution - Nonsense
SHEENSG00000169291ENST00000304760p.?c.1181+7C>TUnknown
KCNN3ENSG00000143603ENST00000271915p.D312Nc.934G>ASubstitution - Missense
KCNN3ENSG00000143603ENST00000361147p.D7Nc.19G>ASubstitution - Missense
PBXIP1ENSG00000163346ENST00000368463p.G694*c.2080G>TSubstitution - Nonsense
SHC1ENSG00000160691ENST00000448116p.R497Qc.1490G>ASubstitution - Missense
SHC1ENSG00000160691ENST00000368453p.R387Qc.1160G>ASubstitution - Missense
ENST00000368766p.G103Gc.309C>ASubstitution - coding silent
S100A4ENSG00000196154ENST00000368714p.D95Yc.283G>TSubstitution - Missense
NPR1ENSG00000169418ENST00000368680p.?c.2689-9C>TUnknown
LCE2AENSG00000187173ENST00000368779p.P18Sc.52C>TSubstitution - Missense
BICD1ENSG00000151746ENST00000281474p.T740Tc.2220C>TSubstitution - coding silent
FOXM1ENSG00000111206ENST00000342628p.P384Pc.1152G>ASubstitution - coding silent
FOXN3ENSG00000053254ENST00000345097p.Q88*c.262C>TSubstitution - Nonsense
PLEKHG3ENSG00000126822ENST00000247226p.S771Ic.2312G>TSubstitution - Missense
FUT8ENSG00000033170ENST00000394585p.Q89*c.265C>TSubstitution - Nonsense
MTHFD1ENSG00000100714ENST00000555709p.G856Sc.2566G>ASubstitution - Missense
ZBTB1ENSG00000126804ENST00000358738p.E643Ec.1929G>ASubstitution - coding silent
SYNE2ENSG00000054654ENST00000358025p.G869Rc.2605G>ASubstitution - Missense
SIX4ENSG00000100625ENST00000216513p.G38Rc.112G>CSubstitution - Missense
TRMT5ENSG00000126814ENST00000261249p.R115fs*9c.343delADeletion - Frameshift
ACTR10ENSG00000131966ENST00000254286p.?c.635-8C>TUnknown
ACTR10ENSG00000131966ENST00000254286p.?c.635-3A>CUnknown
GPR135ENSG00000181619ENST00000395116p.R429Cc.1285C>TSubstitution - Missense
C14orf105ENSG00000100557ENST00000216445p.G176Gc.528A>GSubstitution - coding silent
LGALS3ENSG00000131981ENST00000254301p.G85Dc.254G>ASubstitution - Missense
HS2ST1ENSG00000153936ENST00000370550p.K33Nc.99A>CSubstitution - Missense
ZNHIT6ENSG00000117174ENST00000370574p.P324Pc.972C>TSubstitution - coding silent
ELTD1ENSG00000162618ENST00000370742p.V476Gc.1427T>GSubstitution - Missense
LPHN2ENSG00000117114ENST00000359929p.T720Sc.2158A>TSubstitution - Missense
SLC44A5ENSG00000137968ENST00000370859p.G435Gc.1305G>ASubstitution - coding silent
RPE65ENSG00000116745ENST00000262340p.G496Ec.1487G>ASubstitution - Missense
LRRC7ENSG00000033122ENST00000035383p.V1257Vc.3771G>ASubstitution - coding silent
SRSF11ENSG00000116754ENST00000370950p.S295Fc.884C>TSubstitution - Missense
SRSF11ENSG00000116754ENST00000370949p.S235Fc.704C>TSubstitution - Missense
OMA1ENSG00000162600ENST00000371226p.L452Fc.1354C>TSubstitution - Missense
NPHP4ENSG00000131697ENST00000378156p.E1403Ec.4209G>ASubstitution - coding silent
WDTC1ENSG00000142784ENST00000361771p.S315Lc.944C>TSubstitution - Missense
FCN3ENSG00000142748ENST00000270879p.G114Dc.341G>ASubstitution - Missense
OR2T33ENSG00000177212ENST00000318021p.L206Vc.616C>GSubstitution - Missense
OR2G2ENSG00000177489ENST00000320065p.L18Fc.54A>TSubstitution - Missense
NOTCH2NLENSG00000213240ENST00000362074p.P163Sc.487C>TSubstitution - Missense
NOTCH2NLENSG00000213240ENST00000362074p.P163Sc.487C>TSubstitution - Missense
NOTCH2NLENSG00000213240ENST00000344859p.P163Sc.487C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.R2329Mc.6986G>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313382p.T2178Ic.6533C>TSubstitution - Missense
RIMBP2ENSG00000060709ENST00000261655p.P501Pc.1503C>TSubstitution - coding silent
RIMBP2ENSG00000060709ENST00000261655p.D266Ec.798C>GSubstitution - Missense
DHX37ENSG00000150990ENST00000308736p.E732Kc.2194G>ASubstitution - Missense
DUSP16ENSG00000111266ENST00000228862p.R208Cc.622C>TSubstitution - Missense
TMEM132CENSG00000181234ENST00000315208p.E76Kc.226G>ASubstitution - Missense
TMEM132CENSG00000181234ENST00000315208p.E463Kc.1387G>ASubstitution - Missense
ABCB9ENSG00000150967ENST00000392439p.Y513Cc.1538A>GSubstitution - Missense
ENST00000298047_v61p.L4121Fc.12361C>TSubstitution - Missense
FAT3ENSG00000165323ENST00000298047p.L696Fc.2086C>TSubstitution - Missense
TRIM64BENSG00000189253ENST00000329862p.G404Cc.1210G>TSubstitution - Missense
RAB38ENSG00000123892ENST00000243662p.H8Hc.24C>TSubstitution - coding silent
SYTL2ENSG00000137501ENST00000354566p.?c.3289-8C>TUnknown
NARFLENSG00000103245ENST00000251588p.I146Ic.438A>CSubstitution - coding silent
ZFP1ENSG00000184517ENST00000393430p.S194Sc.582C>GSubstitution - coding silent
CARD6ENSG00000132357ENST00000254691p.M800Tc.2399T>CSubstitution - Missense
C6ENSG00000039537ENST00000263413p.T767fs*3c.2300delCDeletion - Frameshift
ENST00000318301p.L783Lc.2349C>TSubstitution - coding silent
SLC1A3ENSG00000079215ENST00000265113p.G486Ec.1457G>ASubstitution - Missense
NIPBLENSG00000164190ENST00000448238p.R1120Cc.3358C>TSubstitution - Missense
SPEF2ENSG00000152582ENST00000356031p.P545Pc.1635T>ASubstitution - coding silent
NUSAP1ENSG00000137804ENST00000559596p.K378fs*12c.1131delADeletion - Frameshift
BAHD1ENSG00000140320ENST00000416165p.P348Sc.1042C>TSubstitution - Missense
SLC12A6ENSG00000140199ENST00000558589p.?c.1916+5G>AUnknown
RYR3ENSG00000198838ENST00000389232p.P3267Lc.9800C>TSubstitution - Missense
SPATA13ENSG00000182957ENST00000382108p.R250Rc.750G>ASubstitution - coding silent
ZMYM5ENSG00000132950ENST00000382905p.A245Ac.735A>CSubstitution - coding silent
GRK1ENSG00000185974ENST00000335678p.F249Lc.745T>CSubstitution - Missense
TPTE2ENSG00000132958ENST00000400230p.?c.1303-13_1319>29Unknown
F7ENSG00000057593ENST00000375581p.V152Ec.455T>ASubstitution - Missense
CUL4AENSG00000139842ENST00000375441p.R149Rc.447G>ASubstitution - coding silent
MYO16ENSG00000041515ENST00000357550p.W127Rc.379T>ASubstitution - Missense
HHIPL1ENSG00000182218ENST00000330710p.L151Lc.451C>TSubstitution - coding silent
HHIPL1ENSG00000182218ENST00000357223p.L151Lc.451C>TSubstitution - coding silent
DPYDENSG00000188641ENST00000370192p.I913Ic.2739C>TSubstitution - coding silent
ARHGAP29ENSG00000137962ENST00000370217p.*394*c.1182G>ASubstitution - coding silent
HFM1ENSG00000162669ENST00000370425p.K1215Nc.3645A>TSubstitution - Missense
SKOR1ENSG00000188779ENST00000341418p.A110Tc.328G>ASubstitution - Missense
SKOR1ENSG00000188779ENST00000380035p.I26Ic.78T>CSubstitution - coding silent
SKOR1ENSG00000188779ENST00000389002p.V369Ic.1105G>ASubstitution - Missense
SKOR1ENSG00000188779ENST00000380035p.V413Ic.1237G>ASubstitution - Missense
IGDCC4ENSG00000103742ENST00000352385p.L707Lc.2119C>TSubstitution - coding silent
ANKDD1AENSG00000166839ENST00000380230p.A305Ac.915C>TSubstitution - coding silent
HERC1ENSG00000103657ENST00000443617p.L1845Lc.5535C>TSubstitution - coding silent
DICER1ENSG00000100697ENST00000343455p.L515Lc.1543C>TSubstitution - coding silent
DICER1ENSG00000100697ENST00000343455p.R688Qc.2063G>ASubstitution - Missense
RIN3ENSG00000100599ENST00000216487p.G408Ec.1223G>ASubstitution - Missense
RB1CC1ENSG00000023287ENST00000025008p.A417Tc.1249G>ASubstitution - Missense
IGFBP5ENSG00000115461ENST00000233813p.?c.688-4C>AUnknown
FN1ENSG00000115414ENST00000354785p.V1147Ec.3440T>ASubstitution - Missense
IKZF2ENSG00000030419ENST00000457361p.P18Lc.53C>TSubstitution - Missense
LANCL1ENSG00000115365ENST00000233714p.A111Tc.331G>ASubstitution - Missense
CPS1ENSG00000021826ENST00000233072p.E623Gc.1868A>GSubstitution - Missense
UNC80ENSG00000144406ENST00000439458p.M353Vc.1057A>GSubstitution - Missense
DYTNENSG00000232125ENST00000452335p.L534Ic.1600C>ASubstitution - Missense
DYTNENSG00000232125ENST00000452335p.L534Ic.1600C>ASubstitution - Missense
ASNSD1ENSG00000138381ENST00000260952p.S422Sc.1266C>TSubstitution - coding silent
STAT1ENSG00000115415ENST00000361099p.?c.634-10T>CUnknown
WDR75ENSG00000115368ENST00000314761p.W826*c.2478G>ASubstitution - Nonsense
ENST00000344648p.E701fs*12c.2091_2092insAInsertion - Frameshift
SSFA2ENSG00000138434ENST00000431877p.G90Vc.269G>TSubstitution - Missense
SSFA2ENSG00000138434ENST00000320370p.G90Vc.269G>TSubstitution - Missense
SSFA2ENSG00000138434ENST00000431877p.G90Gc.270A>TSubstitution - coding silent
SSFA2ENSG00000138434ENST00000320370p.G90Gc.270A>TSubstitution - coding silent
CCDC141ENSG00000163492ENST00000420890p.P1144Sc.3430C>TSubstitution - Missense
SNX5ENSG00000089006ENST00000377768p.M116Lc.346A>TSubstitution - Missense
SLC24A3ENSG00000185052ENST00000328041p.G642Gc.1926G>ASubstitution - coding silent
SIRPGENSG00000089012ENST00000303415p.P217Sc.649C>TSubstitution - Missense
KIF16BENSG00000089177ENST00000354981p.Q1020Qc.3060G>ASubstitution - coding silent
KIF16BENSG00000089177ENST00000408042p.G811Ec.2432G>ASubstitution - Missense
ANKEF1ENSG00000132623ENST00000378392p.F512Sc.1535T>CSubstitution - Missense
SNPHENSG00000101298ENST00000381873p.?c.308+8G>TUnknown
SNPHENSG00000101298ENST00000381867p.?c.440+8G>TUnknown
MUC16ENSG00000181143ENST00000397910p.G460Gc.1380T>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.G460Gc.1380T>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.T438Sc.1312A>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.P3818Sc.11452C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.P7670Lc.23009C>TSubstitution - Missense
ENST00000331986p.P3303Lc.9908C>TSubstitution - Missense
RNF167ENSG00000108523ENST00000571816p.A19Ac.57G>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.P7670Lc.23009C>TSubstitution - Missense
SP2ENSG00000167182ENST00000376741p.V297Mc.889G>ASubstitution - Missense
SP2ENSG00000167182ENST00000376741p.R577Hc.1730G>ASubstitution - Missense
MAPTENSG00000186868ENST00000344290p.S56_E57delSEc.165_170delATCTGADeletion - In frame
KANSL1ENSG00000120071ENST00000262419p.R543Tc.1628G>CSubstitution - Missense
ATP2C2ENSG00000064270ENST00000262429p.T392Ic.1175C>TSubstitution - Missense
DNAAF1ENSG00000154099ENST00000378553p.M202Vc.604A>GSubstitution - Missense
TAF1CENSG00000103168ENST00000378541p.G90Ec.269G>ASubstitution - Missense
ENST00000428290_v65p.P984Pc.2952C>TSubstitution - coding silent
ENST00000300671p.D2525Nc.7573G>ASubstitution - Missense
USP36ENSG00000055483ENST00000312010p.A981Tc.2941G>ASubstitution - Missense
ENST00000300671p.E4143Ec.12429G>ASubstitution - coding silent
SRSF2ENSG00000161547ENST00000359995p.T51Ic.152C>TSubstitution - Missense
UBE2OENSG00000175931ENST00000319380p.R1237Rc.3711G>ASubstitution - coding silent
ENST00000326348p.F174Lc.520T>CSubstitution - Missense
UNC13DENSG00000092929ENST00000207549p.C992Cc.2976C>TSubstitution - coding silent
UNC13DENSG00000092929ENST00000207549p.D665Dc.1995C>TSubstitution - coding silent
TRIM47ENSG00000132481ENST00000254816p.D237Nc.709G>ASubstitution - Missense
RTN4RL1ENSG00000185924ENST00000331238p.K401Ec.1201A>GSubstitution - Missense
SREBF1ENSG00000072310ENST00000355815p.A571Vc.1712C>TSubstitution - Missense
MYO15AENSG00000091536ENST00000205890p.F1922Fc.5766C>TSubstitution - coding silent
CCDC144AENSG00000170160ENST00000456009p.T863Tc.2589G>CSubstitution - coding silent
RASD1ENSG00000108551ENST00000225688p.D258Vc.773A>TSubstitution - Missense
RAI1ENSG00000108557ENST00000353383p.R999Qc.2996G>ASubstitution - Missense
ENST00000599073p.P226Pc.678C>TSubstitution - coding silent
ADORA2BENSG00000170425ENST00000304222p.S165Tc.494G>CSubstitution - Missense
HS3ST3B1ENSG00000125430ENST00000360954p.V29Lc.85G>CSubstitution - Missense
ENST00000395924p.R139Rc.417C>TSubstitution - coding silent
IRS4ENSG00000133124ENST00000372129p.P1069Sc.3205C>TSubstitution - Missense
TBC1D8BENSG00000133138ENST00000357242p.?c.828-5T>AUnknown
TBC1D8BENSG00000133138ENST00000310452p.?c.828-5T>AUnknown
NM_015691.2p.R964Cc.2890C>TSubstitution - Missense
BICD2ENSG00000185963ENST00000356884p.?c.2259-8A>TUnknown
FGD3ENSG00000127084ENST00000375482p.Q116*c.346C>TSubstitution - Nonsense
NM_033086.1p.Q116*c.346C>TSubstitution - Nonsense
R3HDM4ENSG00000198858ENST00000361574p.L221Vc.661C>GSubstitution - Missense
FBN3ENSG00000142449ENST00000270509p.?c.865+1G>AUnknown
MUC16ENSG00000181143ENST00000397910p.I14188Ic.42564C>TSubstitution - coding silent
SNAPC2ENSG00000104976ENST00000221573p.G71fs*3c.210delGDeletion - Frameshift
INSRENSG00000171105ENST00000302850p.D1251Nc.3751G>ASubstitution - Missense
ENST00000215591p.L241Fc.721C>TSubstitution - Missense
FGF22ENSG00000070388ENST00000215530p.?c.319-1G>AUnknown
SLC25A23ENSG00000125648ENST00000301454p.P396Lc.1187C>TSubstitution - Missense
RFX2ENSG00000087903ENST00000303657p.T254Mc.761C>TSubstitution - Missense
DCAF12L1ENSG00000198889ENST00000371126p.I155Nc.464T>ASubstitution - Missense
DCAF12L1ENSG00000198889ENST00000371126p.R67Wc.199A>TSubstitution - Missense
HCCSENSG00000004961ENST00000321143p.P110Sc.328C>TSubstitution - Missense
PDE7AENSG00000205268ENST00000379419p.T400Ic.1199C>TSubstitution - Missense
ENST00000262211p.Q231*c.691C>TSubstitution - Nonsense
LYNENSG00000254087ENST00000519728p.E110fs*15c.321delADeletion - Frameshift
SDR16C5ENSG00000170786ENST00000303749p.H171Yc.511C>TSubstitution - Missense
OPRK1ENSG00000082556ENST00000265572p.D343Dc.1029C>TSubstitution - coding silent
RP1ENSG00000104237ENST00000220676p.S365Nc.1094G>ASubstitution - Missense
VLDLRENSG00000147852ENST00000382100p.G416Sc.1246G>ASubstitution - Missense
TEKENSG00000120156ENST00000380036p.D152Nc.454G>ASubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.V652Vc.1956C>TSubstitution - coding silent
CHCHD3ENSG00000106554ENST00000262570p.R93*c.277C>TSubstitution - Nonsense
ENST00000448615p.H82Hc.246C>TSubstitution - coding silent
EXOC4ENSG00000131558ENST00000545148p.I566Fc.1696A>TSubstitution - Missense
IMPDH1ENSG00000106348ENST00000338791p.S473fs*50c.1417delTDeletion - Frameshift
GPR37ENSG00000170775ENST00000303921p.N61Nc.183T>CSubstitution - coding silent
SLC13A1ENSG00000081800ENST00000194130p.I399Ic.1197C>TSubstitution - coding silent
SS18L1ENSG00000184402ENST00000421564p.G306fs*>91c.912delGDeletion - Frameshift
ZNF217ENSG00000171940ENST00000371471p.R185fs*47c.552delCDeletion - Frameshift
SALL4ENSG00000101115ENST00000217086p.P790Sc.2368C>TSubstitution - Missense
ZFP64ENSG00000020256ENST00000216923p.H249Hc.747C>TSubstitution - coding silent
ZNF217ENSG00000171940ENST00000371471p.A934Ac.2802C>TSubstitution - coding silent
ZNF217ENSG00000171940ENST00000371471p.A934Ac.2802C>TSubstitution - coding silent
ZNF217ENSG00000171940ENST00000371471p.S923Ic.2768G>TSubstitution - Missense
ZNF217ENSG00000171940ENST00000371471p.S923Ic.2768G>TSubstitution - Missense
ZNFX1ENSG00000124201ENST00000396105p.?c.3106-5C>TUnknown
ZNFX1ENSG00000124201ENST00000371752p.?c.3106-5C>TUnknown
ZNFX1ENSG00000124201ENST00000371754p.?c.3106-5C>TUnknown
NRSN2ENSG00000125841ENST00000382285p.A126Tc.376G>ASubstitution - Missense
KIR3DL3ENSG00000242019ENST00000291860p.R368Mc.1103G>TSubstitution - Missense
POLD1ENSG00000062822ENST00000440232p.V751Mc.2251G>ASubstitution - Missense
POLD1ENSG00000062822ENST00000440232p.V751Mc.2251G>ASubstitution - Missense
C20orf112ENSG00000197183ENST00000326071p.R308Gc.922A>GSubstitution - Missense
CEP89ENSG00000121289ENST00000305768p.S580Fc.1739C>TSubstitution - Missense
ZNF536ENSG00000198597ENST00000355537p.T1097Ic.3290C>TSubstitution - Missense
THOP1ENSG00000172009ENST00000307741p.I41Vc.121A>GSubstitution - Missense
TLE6ENSG00000104953ENST00000246112p.D363Gc.1088A>GSubstitution - Missense
TLE6ENSG00000104953ENST00000452088p.D240Gc.719A>GSubstitution - Missense
ENST00000452401p.I329Ic.987C>TSubstitution - coding silent
ZNF208ENSG00000160321ENST00000397126p.P1112Pc.3336C>TSubstitution - coding silent
PNOCENSG00000168081ENST00000301908p.G114Gc.342C>TSubstitution - coding silent
FBXO16ENSG00000214050ENST00000380254p.A123Gc.368C>GSubstitution - Missense
ADAM7ENSG00000069206ENST00000175238p.?c.313-1G>AUnknown
NEFMENSG00000104722ENST00000221166p.R155Rc.465C>TSubstitution - coding silent
RHOBTB2ENSG00000008853ENST00000251822p.H315Rc.944A>GSubstitution - Missense
LMOD3ENSG00000163380ENST00000420581p.S288Rc.862A>CSubstitution - Missense
FRMD4BENSG00000114541ENST00000398540p.S926Sc.2778A>TSubstitution - coding silent
FRMD4AENSG00000151474ENST00000264546p.S872Sc.2616A>TSubstitution - coding silent
FRMD4AENSG00000151474ENST00000264546p.G847Sc.2539G>ASubstitution - Missense
SLC25A26ENSG00000144741ENST00000354883p.G98*c.292G>TSubstitution - Nonsense
AF381545.1p.S994Sc.2982G>CSubstitution - coding silent
ADAMTS9ENSG00000163638ENST00000498707p.A1221Ac.3663C>GSubstitution - coding silent
ACOX2ENSG00000168306ENST00000302819p.I180Kc.539T>ASubstitution - Missense
APPL1ENSG00000157500ENST00000288266p.Q300*c.898C>TSubstitution - Nonsense
DNAH12ENSG00000174844ENST00000351747p.L645Lc.1933C>TSubstitution - coding silent
CACNA2D3ENSG00000157445ENST00000474759p.?c.2056+6T>AUnknown
ENST00000398670p.R663Rc.1989A>GSubstitution - coding silent
PRKCDENSG00000163932ENST00000394729p.?c.787+4C>TUnknown
PRKCDENSG00000163932ENST00000394729p.?c.787+4C>TUnknown
ITIH3ENSG00000162267ENST00000449956p.?c.1710-3C>GUnknown
KDM4CENSG00000107077ENST00000381306p.H1005Hc.3015C>TSubstitution - coding silent
TJP2ENSG00000119139ENST00000377245p.R241Hc.722G>ASubstitution - Missense
TJP2ENSG00000119139ENST00000265384p.R241Hc.722G>ASubstitution - Missense
ENST00000354485p.A962Tc.2884G>ASubstitution - Missense
KDM4CENSG00000107077ENST00000381306p.W571*c.1713G>ASubstitution - Nonsense
KDM4CENSG00000107077ENST00000381309p.W571*c.1713G>ASubstitution - Nonsense
KANK1ENSG00000107104ENST00000382303p.L196Lc.588C>TSubstitution - coding silent
TMEM252ENSG00000181778ENST00000377311p.L131Lc.391C>TSubstitution - coding silent
JAK2ENSG00000096968ENST00000381652p.Y96Hc.286T>CSubstitution - Missense
INSL4ENSG00000120211ENST00000239316p.?c.196+9C>TUnknown
GLIS3ENSG00000107249ENST00000381971p.P846Pc.2538G>ASubstitution - coding silent
GLIS3ENSG00000107249ENST00000324333p.P691Pc.2073G>ASubstitution - coding silent
ENST00000377689p.H133Yc.397C>TSubstitution - Missense
GLIS3ENSG00000107249ENST00000381971p.G745Rc.2233G>ASubstitution - Missense
GLIS3ENSG00000107249ENST00000324333p.G590Rc.1768G>ASubstitution - Missense
DOCK8ENSG00000107099ENST00000453981p.L671Pc.2012T>CSubstitution - Missense
DOCK8ENSG00000107099ENST00000432829p.L603Pc.1808T>CSubstitution - Missense
POLR1EENSG00000137054ENST00000377798p.S400Fc.1199C>TSubstitution - Missense
POLR1EENSG00000137054ENST00000377792p.S462Fc.1385C>TSubstitution - Missense
DOCK8ENSG00000107099ENST00000453981p.A810Tc.2428G>ASubstitution - Missense
DOCK8ENSG00000107099ENST00000432829p.A742Tc.2224G>ASubstitution - Missense
SPAG8ENSG00000137098ENST00000396638p.E286Kc.856G>ASubstitution - Missense
UNC13BENSG00000198722ENST00000378495p.K1286Kc.3858G>ASubstitution - coding silent
KEAP1ENSG00000079999ENST00000393623p.T330Tc.990C>TSubstitution - coding silent
AP1M2ENSG00000129354ENST00000250244p.Y81Nc.241T>ASubstitution - Missense
DTNAENSG00000134769ENST00000269190p.?c.1268+5G>AUnknown
ZSCAN30ENSG00000186814ENST00000333206p.L66Lc.198G>ASubstitution - coding silent
GAREMENSG00000141441ENST00000269209p.D765Nc.2293G>ASubstitution - Missense
SMCHD1ENSG00000101596ENST00000261598p.S817fs*41c.2446delTDeletion - Frameshift
SMCHD1ENSG00000101596ENST00000261598p.S265fs*41c.790delTDeletion - Frameshift
LAMA3ENSG00000053747ENST00000313654p.D3085Gc.9254A>GSubstitution - Missense
NPC1ENSG00000141458ENST00000269228p.G1118Sc.3352G>ASubstitution - Missense
ALOXE3ENSG00000179148ENST00000318227p.T544Tc.1632G>ASubstitution - coding silent
NM_021628.1p.T412Tc.1236G>ASubstitution - coding silent
ALOXE3ENSG00000179148ENST00000318227p.R265Kc.794G>ASubstitution - Missense
PER1ENSG00000179094ENST00000317276p.?c.3450-5G>AUnknown
LRRC45ENSG00000169683ENST00000306688p.A161Tc.481G>ASubstitution - Missense
RPTORENSG00000141564ENST00000306801p.?c.2101+2T>AUnknown
RNF213ENSG00000173821ENST00000319921p.E72Kc.214G>ASubstitution - Missense
RNF213ENSG00000173821ENST00000319921p.G170Gc.510C>TSubstitution - coding silent
ENST00000411702p.G219Gc.657C>TSubstitution - coding silent
RNF213ENSG00000173821ENST00000456466p.G170Gc.510C>TSubstitution - coding silent
RNF213ENSG00000173821ENST00000456466p.N921Ic.2762A>TSubstitution - Missense
CBX4ENSG00000141582ENST00000269397p.E288Gc.863A>GSubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.E1344Kc.4030G>ASubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.?c.3087+1G>AUnknown
SPECC1ENSG00000128487ENST00000395527p.D983Vc.2948A>TSubstitution - Missense
BPTFENSG00000171634ENST00000306378p.R1919*c.5755C>TSubstitution - Nonsense
MAPK7ENSG00000166484ENST00000308406p.D138Dc.414C>TSubstitution - coding silent
MFAP4ENSG00000166482ENST00000395592p.R214Qc.641G>ASubstitution - Missense
MFAP4ENSG00000166482ENST00000299610p.R190Qc.569G>ASubstitution - Missense
HELZENSG00000198265ENST00000358691p.P1544Sc.4630C>TSubstitution - Missense
GNA13ENSG00000120063ENST00000439174p.?c.561+5G>CUnknown
ICAM2ENSG00000108622ENST00000449662p.I215Lc.643A>CSubstitution - Missense
CSH2ENSG00000213218ENST00000392886p.D156Dc.468C>TSubstitution - coding silent
SLC26A7ENSG00000147606ENST00000309536p.T107Tc.321A>CSubstitution - coding silent
CNGB3ENSG00000170289ENST00000320005p.S343Fc.1028C>TSubstitution - Missense
ZNF721ENSG00000182903ENST00000338977p.Q247Hc.741A>TSubstitution - Missense
DCAF4L1ENSG00000182308ENST00000333141p.F76Lc.228C>ASubstitution - Missense
PGM2ENSG00000169299ENST00000381967p.G352Sc.1054G>ASubstitution - Missense
WDR19ENSG00000157796ENST00000399820p.D504Nc.1510G>ASubstitution - Missense
DTHD1ENSG00000197057ENST00000456874p.I723Ic.2169C>TSubstitution - coding silent
DTHD1ENSG00000197057ENST00000357504p.I558Ic.1674C>TSubstitution - coding silent
DOPEY2ENSG00000142197ENST00000399151p.M1631Lc.4891A>CSubstitution - Missense
MORC3ENSG00000159256ENST00000400485p.V387Ac.1160T>CSubstitution - Missense
URB1ENSG00000142207ENST00000382751p.A628Vc.1883C>TSubstitution - Missense
KRTAP13-3ENSG00000240432ENST00000390690p.E58Gc.173A>GSubstitution - Missense
ADAMTS5ENSG00000154736ENST00000284987p.G574Ec.1721G>ASubstitution - Missense
ZZEF1ENSG00000074755ENST00000381638p.V2106Ic.6316G>ASubstitution - Missense
KRTAP9-2ENSG00000239886ENST00000377721p.C67*c.201C>ASubstitution - Nonsense
KRT12ENSG00000187242ENST00000251643p.Q400Qc.1200G>ASubstitution - coding silent
NM_014815.2p.Q680Qc.2040G>ASubstitution - coding silent
GPR179ENSG00000188888ENST00000342292p.A85Vc.254C>TSubstitution - Missense
ITGAEENSG00000083457ENST00000263087p.W1035*c.3105G>ASubstitution - Nonsense
SLC12A3ENSG00000070915ENST00000438926p.?c.2884-4C>TUnknown
LPCAT2ENSG00000087253ENST00000262134p.V157Ac.470T>CSubstitution - Missense
SEC14L5ENSG00000103184ENST00000251170p.R423*c.1267C>TSubstitution - Nonsense
ART3ENSG00000156219ENST00000349321p.?c.1003+2T>CUnknown
CCDC158ENSG00000163749ENST00000388914p.P877Pc.2631A>GSubstitution - coding silent
SULT1E1ENSG00000109193ENST00000226444p.R129Wc.385C>TSubstitution - Missense
LMCD1ENSG00000071282ENST00000157600p.T34Tc.102G>ASubstitution - coding silent
CADM2ENSG00000175161ENST00000405615p.S330Fc.989C>TSubstitution - Missense
OXTRENSG00000180914ENST00000316793p.T160Mc.479C>TSubstitution - Missense
ROBO1ENSG00000169855ENST00000495273p.G1193Dc.3578G>ASubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.G1238Dc.3713G>ASubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.G1238Dc.3713G>ASubstitution - Missense
SHQ1ENSG00000144736ENST00000325599p.G151Ec.452G>ASubstitution - Missense
GRM7ENSG00000196277ENST00000389335p.T463Sc.1388C>GSubstitution - Missense
NCAPHENSG00000121152ENST00000240423p.?c.1882-10C>GUnknown
KANSL3ENSG00000114982ENST00000431828p.?c.1014+1G>AUnknown
NCAPHENSG00000121152ENST00000240423p.R32Cc.94C>TSubstitution - Missense
ASAP2ENSG00000151693ENST00000281419p.G727Gc.2181C>TSubstitution - coding silent
FAHD2AENSG00000115042ENST00000233379p.D117Ec.351C>GSubstitution - Missense
AIREENSG00000160224ENST00000291582p.Q69Qc.207G>ASubstitution - coding silent
BRWD1ENSG00000185658ENST00000333229p.C798Cc.2394T>CSubstitution - coding silent
BRWD1ENSG00000185658ENST00000342449p.C798Cc.2394T>CSubstitution - coding silent
DSCAMENSG00000171587ENST00000400454p.V493Vc.1479C>TSubstitution - coding silent
DNASE2ENSG00000105612ENST00000222219p.G323Gc.969G>ASubstitution - coding silent
CALRENSG00000179218ENST00000316448p.W253Lc.758G>TSubstitution - Missense
MAN2B1ENSG00000104774ENST00000221363p.Q413Qc.1239G>ASubstitution - coding silent
ENSG00000188474ENST00000339302p.G343Ec.1028G>ASubstitution - Missense
ELOF1ENSG00000130165ENST00000252445p.R3Hc.8G>ASubstitution - Missense
DOCK6ENSG00000130158ENST00000319867p.F1432Lc.4294T>CSubstitution - Missense
AKAP9ENSG00000127914ENST00000356239p.L1757Lc.5269C>TSubstitution - coding silent
TRPV5ENSG00000127412ENST00000265310p.P544Sc.1630C>TSubstitution - Missense
SUN1ENSG00000164828ENST00000401592p.V614Ac.1841T>CSubstitution - Missense
SUN1ENSG00000164828ENST00000389574p.V531Ac.1592T>CSubstitution - Missense
SUN1ENSG00000164828ENST00000456758p.V803Ac.2408T>CSubstitution - Missense
MGAMENSG00000257335ENST00000549489p.P103Hc.308C>ASubstitution - Missense
MGAMENSG00000257335ENST00000475668p.P103Hc.308C>ASubstitution - Missense
MGAMENSG00000257335ENST00000549489p.P103Hc.308C>ASubstitution - Missense
ENST00000389322p.P103Hc.308C>ASubstitution - Missense
MGAMENSG00000257335ENST00000549489p.V236Ic.706G>ASubstitution - Missense
ENST00000389322p.V236Ic.706G>ASubstitution - Missense
TBXAS1ENSG00000059377ENST00000416849p.V347Fc.1039G>TSubstitution - Missense
PARP12ENSG00000059378ENST00000263549p.T589Tc.1767T>ASubstitution - coding silent
CALD1ENSG00000122786ENST00000361675p.R294Kc.881G>ASubstitution - Missense
MTPNENSG00000105887ENST00000393085p.S74Fc.221C>TSubstitution - Missense
HIST1H1EENSG00000168298ENST00000304218p.K119Ec.355A>GSubstitution - Missense
MLLT4ENSG00000130396ENST00000392108p.P1216Sc.3646C>TSubstitution - Missense
ENST00000366809p.P1200Sc.3598C>TSubstitution - Missense
SMOC2ENSG00000112562ENST00000354536p.Q456Lc.1367A>TSubstitution - Missense
TCP10L2ENSG00000166984ENST00000366832p.H16Hc.48C>TSubstitution - coding silent
UNC93AENSG00000112494ENST00000230256p.?c.841-10C>AUnknown
TCP10ENSG00000203690ENST00000397829p.K296Ec.886A>GSubstitution - Missense
PBRM1ENSG00000163939ENST00000356770p.E1299Ec.3897A>GSubstitution - coding silent
PBRM1ENSG00000163939ENST00000337303p.E1331Ec.3993A>GSubstitution - coding silent
DNAH1ENSG00000114841ENST00000420323p.M3143Tc.9428T>CSubstitution - Missense
ENST00000273600p.M3207Tc.9620T>CSubstitution - Missense
ENST00000273612p.P943Pc.2829G>ASubstitution - coding silent
PCBP4ENSG00000090097ENST00000461554p.G67Ec.200G>ASubstitution - Missense
HYAL3ENSG00000186792ENST00000336307p.V281Vc.843C>TSubstitution - coding silent
CISHENSG00000114737ENST00000443053p.L54*c.161T>ASubstitution - Nonsense
DOCK3ENSG00000088538ENST00000266037p.P1852fs*45c.5549delCDeletion - Frameshift
DOCK3ENSG00000088538ENST00000266037p.P1980Sc.5938C>TSubstitution - Missense
BSNENSG00000164061ENST00000296452p.P1314Hc.3941C>ASubstitution - Missense
RNF123ENSG00000164068ENST00000327697p.P962Lc.2885C>TSubstitution - Missense
FRYLENSG00000075539ENST00000503238p.S1530Pc.4588T>CSubstitution - Missense
GABRA4ENSG00000109158ENST00000264318p.N402Ic.1205A>TSubstitution - Missense
ZNF721ENSG00000182903ENST00000511833p.Q477Hc.1431A>TSubstitution - Missense
CST1ENSG00000170373ENST00000398402p.Q116*c.346C>TSubstitution - Nonsense
CST5ENSG00000170367ENST00000304710p.L39Fc.115C>TSubstitution - Missense
BRSK1ENSG00000160469ENST00000309383p.R379fs*54c.1135_1136insCInsertion - Frameshift
KIR2DS4ENSG00000221957ENST00000391729p.?c.643-1G>AUnknown
PTPN2ENSG00000175354ENST00000309660p.L249Pc.746T>CSubstitution - Missense
SPIRE1ENSG00000134278ENST00000309836p.L86Lc.258T>GSubstitution - coding silent
RPH3ALENSG00000181031ENST00000331302p.G203Ec.608G>ASubstitution - Missense
VPS4BENSG00000119541ENST00000238497p.A251Tc.751G>ASubstitution - Missense
ENST00000262719_v68p.L1188Lc.3564G>ASubstitution - coding silent
PHLPP1ENSG00000081913ENST00000400316p.L675Lc.2025G>ASubstitution - coding silent
ENST00000262095p.D487Gc.1460A>GSubstitution - Missense
PIAS2ENSG00000078043ENST00000324794p.G119Dc.356G>ASubstitution - Missense
LRRCC1ENSG00000133739ENST00000414626p.T784Tc.2352A>TSubstitution - coding silent
SLC14A1ENSG00000141469ENST00000321925p.P13Lc.38C>TSubstitution - Missense
FABP12ENSG00000197416ENST00000360464p.S64Fc.191C>TSubstitution - Missense
FABP12ENSG00000197416ENST00000360464p.S64Fc.191C>TSubstitution - Missense
ZC2HC1AENSG00000104427ENST00000263849p.T163Tc.489T>CSubstitution - coding silent
JPH1ENSG00000104369ENST00000342232p.E85fs*70c.253delGDeletion - Frameshift
PI15ENSG00000137558ENST00000260113p.Y61Fc.182A>TSubstitution - Missense
SULF1ENSG00000137573ENST00000260128p.E294Ec.882G>ASubstitution - coding silent
PCM1ENSG00000078674ENST00000325083p.D1589Hc.4765G>CSubstitution - Missense
MTMR7ENSG00000003987ENST00000180173p.I226Ic.678T>CSubstitution - coding silent
ZNF250ENSG00000196150ENST00000292579p.G541Vc.1622G>TSubstitution - Missense
SLC39A4ENSG00000147804ENST00000301305p.L628Lc.1882C>TSubstitution - coding silent
SLC39A4ENSG00000147804ENST00000276833p.L603Lc.1807C>TSubstitution - coding silent
ENST00000292520p.?c.3083-405_3161del484Unknown
GPAA1ENSG00000197858ENST00000355091p.?c.366+10G>AUnknown
GPAA1ENSG00000197858ENST00000355091p.L441Ic.1321C>ASubstitution - Missense
PLECENSG00000178209ENST00000354958p.E2490Kc.7468G>ASubstitution - Missense
PLECENSG00000178209ENST00000322810p.A1415Tc.4243G>ASubstitution - Missense
PLECENSG00000178209ENST00000436759p.A1305Tc.3913G>ASubstitution - Missense
PLECENSG00000178209ENST00000345136p.A1278Tc.3832G>ASubstitution - Missense
SU_Erk7p.G467Ec.1400G>ASubstitution - Missense
FAM83HENSG00000180921ENST00000388913p.S1085Yc.3254C>ASubstitution - Missense
CYP3A43ENSG00000021461ENST00000222382p.N192Nc.576C>TSubstitution - coding silent
TMEM130ENSG00000166448ENST00000339375p.T77Tc.231C>TSubstitution - coding silent
TRRAPENSG00000196367ENST00000359863p.R90Qc.269G>ASubstitution - Missense
TRRAPENSG00000196367ENST00000359863p.L1322Lc.3966C>GSubstitution - coding silent
DNMT3AENSG00000119772ENST00000321117p.S73Fc.218C>TSubstitution - Missense
DNMT3AENSG00000119772ENST00000406659p.S73Fc.218C>TSubstitution - Missense
DTNBENSG00000138101ENST00000406818p.D366Nc.1096G>ASubstitution - Missense
NCOA1ENSG00000084676ENST00000405141p.L1366Fc.4096C>TSubstitution - Missense
NEU4ENSG00000204099ENST00000325935p.G82Sc.244G>ASubstitution - Missense
MTERFD2ENSG00000122085ENST00000391980p.A37Tc.109G>ASubstitution - Missense
PASKENSG00000115687ENST00000234040p.A597Tc.1789G>ASubstitution - Missense
ANO7ENSG00000146205ENST00000274979p.?c.270+3A>GUnknown
ANO7ENSG00000146205ENST00000402430p.?c.270+3A>GUnknown
KIF1AENSG00000130294ENST00000320389p.?c.184-9G>AUnknown
OR6B2ENSG00000182083ENST00000402971p.T167Tc.501G>ASubstitution - coding silent
GPC1ENSG00000063660ENST00000264039p.A138Sc.412G>TSubstitution - Missense
ENST00000331807p.P305Sc.913C>TSubstitution - Missense
LAPTM4AENSG00000068697ENST00000175091p.Y187Hc.559T>CSubstitution - Missense
CLK1ENSG00000013441ENST00000321356p.G130Ec.389G>ASubstitution - Missense
MARS2ENSG00000247626ENST00000282276p.G404Ec.1211G>ASubstitution - Missense
DNAH7ENSG00000118997ENST00000312428p.L2192Sc.6575T>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.A11388Tc.34162G>ASubstitution - Missense
ENST00000356127p.A11388Tc.34162G>ASubstitution - Missense
ENST00000356127p.A17587Tc.52759G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.G17548Ec.52643G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.G11176Ec.33527G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.G19346Ec.58037G>ASubstitution - Missense
NM_003319p.G19221Ec.57662G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.S25159Lc.75476C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.S18787Lc.56360C>TSubstitution - Missense
ENST00000356127p.S25157Lc.75470C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.S18854Lc.56561C>TSubstitution - Missense
NM_003319p.S18662Lc.55985C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.I31676Vc.95026A>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.I25304Vc.75910A>GSubstitution - Missense
NM_007023.1p.S358Fc.1073C>TSubstitution - Missense
GPR155ENSG00000163328ENST00000392551p.H758Pc.2273A>CSubstitution - Missense
ENST00000392600p.V15fs*1c.42delADeletion - Frameshift
SLC25A12ENSG00000115840ENST00000422440p.Y606Hc.1816T>CSubstitution - Missense
CECR5ENSG00000069998ENST00000336737p.D52Dc.156C>TSubstitution - coding silent
FRG1BENSG00000149531ENST00000278882p.Q146Hc.438G>CSubstitution - Missense
USP25ENSG00000155313ENST00000400183p.P210Tc.628C>ASubstitution - Missense
NM_000933.2p.G538Cc.1612G>TSubstitution - Missense
PLCB1ENSG00000182621ENST00000338037p.I41Fc.121A>TSubstitution - Missense
PLCB1ENSG00000182621ENST00000378641p.I41Fc.121A>TSubstitution - Missense
SRMSENSG00000125508ENST00000217188p.A453Vc.1358C>TSubstitution - Missense
HELZ2ENSG00000130589ENST00000467148p.?c.6692-7C>TUnknown
HELZ2ENSG00000130589ENST00000467148p.L366Mc.1096C>ASubstitution - Missense
LAMA5ENSG00000130702ENST00000252999p.G3093Dc.9278G>ASubstitution - Missense
LAMA5ENSG00000130702ENST00000252999p.T2791Ic.8372C>TSubstitution - Missense
CNOT3ENSG00000088038ENST00000358389p.A164Ac.492C>TSubstitution - coding silent
NLRP12ENSG00000142405ENST00000345770p.R796Rc.2388G>ASubstitution - coding silent
NLRP12ENSG00000142405ENST00000345770p.A346Ac.1038T>ASubstitution - coding silent
ZNF665ENSG00000197497ENST00000396424p.C53Wc.159T>GSubstitution - Missense
ZNF808ENSG00000198482ENST00000359798p.R887Wc.2659C>TSubstitution - Missense
PTPRSENSG00000105426ENST00000357368p.P357Sc.1069C>TSubstitution - Missense
ZNF841ENSG00000197608ENST00000359973p.S410Lc.1229C>TSubstitution - Missense
ZNF841ENSG00000197608ENST00000359973p.S275Lc.824C>TSubstitution - Missense
ZNF841ENSG00000197608ENST00000389534p.R336Qc.1007G>ASubstitution - Missense
VPS9D1ENSG00000075399ENST00000389386p.A168Vc.503C>TSubstitution - Missense
CDIP1ENSG00000089486ENST00000399599p.S72Nc.215G>ASubstitution - Missense
NME4ENSG00000103202ENST00000219479p.?c.226-4C>TUnknown
ZNF200ENSG00000010539ENST00000396870p.S180Sc.540T>ASubstitution - coding silent
ITGAMENSG00000169896ENST00000287497p.R688Hc.2063G>ASubstitution - Missense
CCDC54ENSG00000138483ENST00000261058p.D206Ac.617A>CSubstitution - Missense
FANCD2ENSG00000144554ENST00000287647p.A799Ac.2397C>TSubstitution - coding silent
FANCD2ENSG00000144554ENST00000419585p.A799Ac.2397C>TSubstitution - coding silent
ZBTB11ENSG00000066422ENST00000312938p.N418Nc.1254C>TSubstitution - coding silent
ABI3BPENSG00000154175ENST00000471714p.L685Fc.2053C>TSubstitution - Missense
FANCD2ENSG00000144554ENST00000419585p.L138Lc.414G>ASubstitution - coding silent
FANCD2ENSG00000144554ENST00000419585p.F386Lc.1156T>CSubstitution - Missense
IMPG2ENSG00000081148ENST00000193391p.?c.1154-3C>TUnknown
INPP4AENSG00000040933ENST00000074304p.T600Ic.1799C>TSubstitution - Missense
INPP4AENSG00000040933ENST00000074304p.T600Ic.1799C>TSubstitution - Missense
TSGA10ENSG00000135951ENST00000355053p.M660Ic.1980G>ASubstitution - Missense
TSGA10ENSG00000135951ENST00000355053p.R219*c.655C>TSubstitution - Nonsense
CNGA3ENSG00000144191ENST00000272602p.S570Sc.1710C>TSubstitution - coding silent
CGREF1ENSG00000138028ENST00000402394p.E226Gc.677A>GSubstitution - Missense
PAK2ENSG00000180370ENST00000327134p.P442Sc.1324C>TSubstitution - Missense
CRIM1ENSG00000150938ENST00000280527p.G606Sc.1816G>ASubstitution - Missense
VITENSG00000205221ENST00000379242p.V394Ec.1181T>ASubstitution - Missense
HEATR5BENSG00000008869ENST00000233099p.R1248Qc.3743G>ASubstitution - Missense
XDHENSG00000158125ENST00000379416p.G589Dc.1766G>ASubstitution - Missense
FAM179AENSG00000189350ENST00000379558p.R477*c.1429A>TSubstitution - Nonsense
C2orf71ENSG00000179270ENST00000331664p.Q1198Qc.3594G>ASubstitution - coding silent
GPN1ENSG00000198522ENST00000264718p.N54Nc.162C>TSubstitution - coding silent
C2orf16ENSG00000221843ENST00000408964p.T379Ic.1136C>TSubstitution - Missense
C2orf16ENSG00000221843ENST00000408964p.T379Ic.1136C>TSubstitution - Missense
BPIFCENSG00000184459ENST00000397452p.?c.655+5G>AUnknown
PRR14LENSG00000183530ENST00000327423p.H1473Yc.4417C>TSubstitution - Missense
DEPDC5ENSG00000100150ENST00000535622p.P1362Pc.4086C>TSubstitution - coding silent
SMTNENSG00000183963ENST00000333137p.?c.792+10G>AUnknown
SEC14L4ENSG00000133488ENST00000255858p.L228fs*1c.682delCDeletion - Frameshift
ASCC2ENSG00000100325ENST00000397771p.G19Ec.56G>ASubstitution - Missense
MTMR3ENSG00000100330ENST00000401950p.G657Ec.1970G>ASubstitution - Missense
EWSR1ENSG00000182944ENST00000397938p.Q160*c.478C>TSubstitution - Nonsense
USP25ENSG00000155313ENST00000285679p.P210Tc.628C>ASubstitution - Missense
IL1RL1ENSG00000115602ENST00000233954p.V434Mc.1300G>ASubstitution - Missense
CHST10ENSG00000115526ENST00000264249p.P127Pc.381C>TSubstitution - coding silent
CASKIN2ENSG00000177303ENST00000321617p.V237Ac.710T>CSubstitution - Missense
TSEN54ENSG00000182173ENST00000333213p.K468Rc.1403A>GSubstitution - Missense
LLGL2ENSG00000073350ENST00000578363p.Q22Rc.65A>GSubstitution - Missense
NLGN2ENSG00000169992ENST00000302926p.L216Fc.646C>TSubstitution - Missense
USH1GENSG00000182040ENST00000319642p.G259Sc.775G>ASubstitution - Missense
DNAI2ENSG00000171595ENST00000311014p.S471Sc.1413C>TSubstitution - coding silent
ELP5ENSG00000170291ENST00000396628p.L18Sc.53T>CSubstitution - Missense
DLG4ENSG00000132535ENST00000302955p.I643Tc.1928T>CSubstitution - Missense
ABCA6ENSG00000154262ENST00000284425p.K136Kc.408G>ASubstitution - coding silent
ZNF324BENSG00000249471ENST00000391696p.F33Sc.98T>CSubstitution - Missense
ZNF324BENSG00000249471ENST00000391696p.L266Lc.798A>GSubstitution - coding silent
ZSCAN18ENSG00000121413ENST00000240727p.P11Sc.31C>TSubstitution - Missense
FUT6ENSG00000156413ENST00000592563p.R355Kc.1064G>ASubstitution - Missense
ZNF547ENSG00000152433ENST00000282282p.N390Nc.1170C>TSubstitution - coding silent
ZNF419ENSG00000105136ENST00000347466p.S293Nc.878G>ASubstitution - Missense
ENST00000284020p.S300Nc.899G>ASubstitution - Missense
DUXAENSG00000258873ENST00000554048p.Q87*c.259C>TSubstitution - Nonsense
ZNF264ENSG00000083844ENST00000263095p.Y287Fc.860A>TSubstitution - Missense
NLRP5ENSG00000171487ENST00000390649p.Y1163Yc.3489C>TSubstitution - coding silent
ZNF667ENSG00000198046ENST00000292069p.K337Tc.1010A>CSubstitution - Missense
ZNF667ENSG00000198046ENST00000342634p.K465Tc.1394A>CSubstitution - Missense
NLRP11ENSG00000179873ENST00000443188p.S157Fc.470C>TSubstitution - Missense
ZNF628ENSG00000197483ENST00000391718p.K39Kc.117G>ASubstitution - coding silent
ZNF628ENSG00000197483ENST00000391718p.K39Kc.117G>ASubstitution - coding silent
PLP2ENSG00000102007ENST00000376327p.A92Tc.274G>ASubstitution - Missense
ENST00000453548p.M167Lc.499A>CSubstitution - Missense
ZNF81ENSG00000197779ENST00000376950p.S95Fc.284C>TSubstitution - Missense
MAOBENSG00000069535ENST00000378069p.?c.477-1G>AUnknown
ENST00000449698p.?c.376+9T>AUnknown
XM_498354.1p.A479Tc.1435G>ASubstitution - Missense
SPIDRENSG00000164808ENST00000297423p.G528Sc.1582G>ASubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.L891Fc.2671C>TSubstitution - Missense
NKX6-1ENSG00000163623ENST00000295886p.P34Sc.100C>TSubstitution - Missense
RASGEF1BENSG00000138670ENST00000264400p.Y62Cc.185A>GSubstitution - Missense
TBCKENSG00000145348ENST00000273980p.G10Vc.29G>TSubstitution - Missense
MANBAENSG00000109323ENST00000226578p.D713Vc.2138A>TSubstitution - Missense
FILIP1LENSG00000168386ENST00000354552p.Q106Rc.317A>GSubstitution - Missense
ENST00000336674p.D259Dc.777C>TSubstitution - coding silent
CPNE9ENSG00000144550ENST00000383832p.?c.651-3C>TUnknown
BRPF1ENSG00000156983ENST00000383829p.Q67Rc.200A>GSubstitution - Missense
LARP7ENSG00000174720ENST00000324052p.?c.387+1G>AUnknown
NM_005496.2p.R1261Kc.3782G>ASubstitution - Missense
GAR1ENSG00000109534ENST00000226796p.G53Dc.158G>ASubstitution - Missense
GFM1ENSG00000168827ENST00000486715p.T171Tc.513T>CSubstitution - coding silent
RARRES1ENSG00000118849ENST00000237696p.Y159Yc.477C>TSubstitution - coding silent
SLC33A1ENSG00000169359ENST00000392845p.P473Tc.1417C>ASubstitution - Missense
LEKR1ENSG00000197980ENST00000356539p.S218Lc.653C>TSubstitution - Missense
FAM194AENSG00000163645ENST00000295910p.Y307Hc.919T>CSubstitution - Missense
HPS3ENSG00000163755ENST00000296051p.A589Ac.1767C>TSubstitution - coding silent
HK2ENSG00000159399ENST00000290573p.G862Ec.2585G>ASubstitution - Missense
LRRTM4ENSG00000176204ENST00000409093p.Q364Hc.1092G>CSubstitution - Missense
LRRTM4ENSG00000176204ENST00000409911p.Q365Hc.1095G>CSubstitution - Missense
ENST00000342345p.A390Ac.1170C>TSubstitution - coding silent
ALMS1ENSG00000116127ENST00000264448p.S1388Nc.4163G>ASubstitution - Missense
PLA2G15ENSG00000103066ENST00000219345p.T151Sc.451A>TSubstitution - Missense
ADD2ENSG00000075340ENST00000430656p.G214Sc.640G>ASubstitution - Missense
DPEP2ENSG00000167261ENST00000393847p.P467Lc.1400C>TSubstitution - Missense
RLTPRENSG00000159753ENST00000334583p.A247Ac.741C>TSubstitution - coding silent
CNGB1ENSG00000070729ENST00000251102p.P1229Lc.3686C>TSubstitution - Missense
CNOT1ENSG00000125107ENST00000441024p.S407Sc.1221C>TSubstitution - coding silent
FEM1CENSG00000145780ENST00000274457p.M273Ic.819G>ASubstitution - Missense
SEMA6AENSG00000092421ENST00000343348p.H14Pc.41A>CSubstitution - Missense
TSSK1BENSG00000212122ENST00000390666p.P58Pc.174C>ASubstitution - coding silent
TSSK1BENSG00000212122ENST00000390666p.P58Pc.174C>ASubstitution - coding silent
FBXL17ENSG00000145743ENST00000542267p.T631Tc.1893A>TSubstitution - coding silent
MARCH6ENSG00000145495ENST00000274140p.L353Vc.1057T>GSubstitution - Missense
GRID2ENSG00000152208ENST00000282020p.R787Wc.2359A>TSubstitution - Missense
TRAK1ENSG00000182606ENST00000341421p.L417Lc.1249C>TSubstitution - coding silent
TRAK1ENSG00000182606ENST00000396175p.L417Lc.1249C>TSubstitution - coding silent
ENST00000543338p.L475Lc.1423C>TSubstitution - coding silent
DLEC1ENSG00000008226ENST00000308059p.?c.5020+10A>GUnknown
DLEC1ENSG00000008226ENST00000346219p.?c.5020+10A>GUnknown
NOL10ENSG00000115761ENST00000381685p.P590Sc.1768C>TSubstitution - Missense
GPR45ENSG00000135973ENST00000258456p.S7Sc.21C>TSubstitution - coding silent
NCK2ENSG00000071051ENST00000233154p.L77Lc.231C>TSubstitution - coding silent
NCK2ENSG00000071051ENST00000233154p.L77Lc.231C>TSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.P2284Sc.6850C>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.P2215Sc.6643C>TSubstitution - Missense
ZP3ENSG00000188372ENST00000394857p.I128Vc.382A>GSubstitution - Missense
CHN2ENSG00000106069ENST00000539406p.A154Tc.460G>ASubstitution - Missense
HOXA2ENSG00000105996ENST00000222718p.P295Lc.884C>TSubstitution - Missense
TENSG00000164458ENST00000296946p.Y124Yc.372C>TSubstitution - coding silent
DNAH11ENSG00000105877ENST00000328843p.?c.496-9T>CUnknown
PDE10AENSG00000112541ENST00000366882p.D302Dc.906C>TSubstitution - coding silent
IGF2RENSG00000197081ENST00000356956p.Y1023Yc.3069C>TSubstitution - coding silent
SLC22A2ENSG00000112499ENST00000366953p.V136Vc.408C>TSubstitution - coding silent
TAGAPENSG00000164691ENST00000367066p.T492Ac.1474A>GSubstitution - Missense
IPCEF1ENSG00000074706ENST00000367220p.K55Kc.165G>ASubstitution - coding silent
MYCT1ENSG00000120279ENST00000367245p.L45Fc.133C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.?c.22807-3T>CUnknown
STXBP5ENSG00000164506ENST00000367481p.S137Pc.409T>CSubstitution - Missense
CD83ENSG00000112149ENST00000379153p.?c.153+1G>AUnknown
FUCA2ENSG00000001036ENST00000002165p.V362Gc.1085T>GSubstitution - Missense
IL20RAENSG00000016402ENST00000316649p.T478Ac.1432A>GSubstitution - Missense
IL20RAENSG00000016402ENST00000367746p.G200Gc.600G>ASubstitution - coding silent
TNFAIP3ENSG00000118503ENST00000237289p.K96fs*8c.284_285ins10Insertion - Frameshift
PDZD2ENSG00000133401ENST00000282493p.T2215Ic.6644C>TSubstitution - Missense
CDH18ENSG00000145526ENST00000382275p.S639Ic.1916G>TSubstitution - Missense
MAML1ENSG00000161021ENST00000292599p.Q773Qc.2319G>ASubstitution - coding silent
SLC7A11ENSG00000151012ENST00000280612p.M377Ic.1131G>ASubstitution - Missense
ELF2ENSG00000109381ENST00000394235p.Q540Kc.1618C>ASubstitution - Missense
RUFY1ENSG00000176783ENST00000437570p.V72Vc.216G>ASubstitution - coding silent
HNRNPH1ENSG00000169045ENST00000393432p.R294Wc.880C>TSubstitution - Missense
HNRNPH1ENSG00000169045ENST00000356731p.R294Wc.880C>TSubstitution - Missense
FAT4ENSG00000196159ENST00000394329p.S4245Cc.12733A>TSubstitution - Missense
SEC61A1ENSG00000058262ENST00000243253p.I417Ic.1251C>TSubstitution - coding silent
RAB7AENSG00000075785ENST00000265062p.?c.529-4C>TUnknown
MCM2ENSG00000073111ENST00000265056p.V731Ic.2191G>ASubstitution - Missense
MCM2ENSG00000073111ENST00000265056p.H875Pc.2624A>CSubstitution - Missense
SEMA5BENSG00000082684ENST00000451055p.H418Hc.1254C>TSubstitution - coding silent
PARP14ENSG00000173193ENST00000474629p.P17Lc.50C>TSubstitution - Missense
HSPBAP1ENSG00000169087ENST00000306103p.?c.251-1G>AUnknown
SPRED2ENSG00000198369ENST00000356388p.P7Rc.20C>GSubstitution - Missense
ETAA1ENSG00000143971ENST00000272342p.S710Sc.2130A>TSubstitution - coding silent
EFEMP1ENSG00000115380ENST00000394554p.Q147*c.439C>TSubstitution - Nonsense
MTIF2ENSG00000085760ENST00000394600p.K468Kc.1404G>ASubstitution - coding silent
CCDC88AENSG00000115355ENST00000336838p.?c.1657-3T>AUnknown
CCDC88AENSG00000115355ENST00000263630p.?c.1657-3T>AUnknown
LRRFIP1ENSG00000124831ENST00000392000p.P407Lc.1220C>TSubstitution - Missense
NM_014614.1p.?c.4922-8C>TUnknown
UGT1A7ENSG00000244122ENST00000373426p.S122fs*12c.358delTDeletion - Frameshift
INPP5DENSG00000168918ENST00000359570p.P923Sc.2767C>TSubstitution - Missense
PSMD1ENSG00000173692ENST00000308696p.?c.304+1715_537del5662Unknown
SLC16A14ENSG00000163053ENST00000295190p.S77Fc.230C>TSubstitution - Missense
SPHKAPENSG00000153820ENST00000392056p.V1658Mc.4972G>ASubstitution - Missense
SPHKAPENSG00000153820ENST00000392056p.Q1480Pc.4439A>CSubstitution - Missense
SU_SPEGp.R915Rc.2745C>ASubstitution - coding silent
SU_SPEGp.R1616Wc.4846C>TSubstitution - Missense
WNT6ENSG00000115596ENST00000233948p.V176Mc.526G>ASubstitution - Missense
MAP3K2ENSG00000169967ENST00000409947p.D97Nc.289G>ASubstitution - Missense
MAP3K2ENSG00000169967ENST00000409947p.D97Nc.289G>ASubstitution - Missense
WDR33ENSG00000136709ENST00000322313p.A1076fs*205c.3226delGDeletion - Frameshift
GLI2ENSG00000074047ENST00000361492p.P107Lc.320C>TSubstitution - Missense
GREB1ENSG00000196208ENST00000381486p.P308Lc.923C>TSubstitution - Missense
GREB1ENSG00000196208ENST00000381483p.P308Lc.923C>TSubstitution - Missense
PSD4ENSG00000125637ENST00000245796p.V388Mc.1162G>ASubstitution - Missense
FBLN7ENSG00000144152ENST00000331203p.P82Lc.245C>TSubstitution - Missense
RGPD8ENSG00000169629ENST00000330575p.L16Lc.46C>TSubstitution - coding silent
POLR1BENSG00000125630ENST00000263331p.A741Tc.2221G>ASubstitution - Missense
SLC20A1ENSG00000144136ENST00000272542p.A453Tc.1357G>ASubstitution - Missense
ZFXENSG00000005889ENST00000379188p.D22Hc.64G>CSubstitution - Missense
PCYT1BENSG00000102230ENST00000379145p.H166Yc.496C>TSubstitution - Missense
CNKSR2ENSG00000149970ENST00000379510p.G575Gc.1725C>TSubstitution - coding silent
COL26A1ENSG00000160963ENST00000397927p.?c.159-2A>TUnknown
ENST00000539430p.D666Dc.1998C>TSubstitution - coding silent
MEA1ENSG00000124733ENST00000244711p.D98Nc.292G>ASubstitution - Missense
PEX6ENSG00000124587ENST00000304611p.L830Lc.2490T>CSubstitution - coding silent
NM_003913p.M128Ic.384G>ASubstitution - Missense
PRPF4BENSG00000112739ENST00000337659p.G869Dc.2606G>ASubstitution - Missense
NM_003913p.G358Dc.1073G>ASubstitution - Missense
KIF6ENSG00000164627ENST00000287152p.T108Tc.324A>GSubstitution - coding silent
KIF6ENSG00000164627ENST00000287152p.T108Tc.324A>GSubstitution - coding silent
SLC26A8ENSG00000112053ENST00000355574p.R880Rc.2640G>ASubstitution - coding silent
ENST00000238522p.V1995Vc.5985C>TSubstitution - coding silent
HOMER1ENSG00000152413ENST00000334082p.K107Nc.321A>TSubstitution - Missense
CMYA5ENSG00000164309ENST00000446378p.R147Rc.441G>ASubstitution - coding silent
BTF3ENSG00000145741ENST00000380591p.D85Nc.253G>ASubstitution - Missense
ADCY2ENSG00000078295ENST00000338316p.L50Pc.149T>CSubstitution - Missense
RAD17ENSG00000152942ENST00000361732p.?c.698+9C>TUnknown
CDK7ENSG00000134058ENST00000256443p.D216Nc.646G>ASubstitution - Missense
ITPR1ENSG00000150995ENST00000302640p.G2683Ec.8048G>ASubstitution - Missense
ITPR1ENSG00000150995ENST00000456211p.G2635Ec.7904G>ASubstitution - Missense
ENST00000315574p.A192Ac.576C>TSubstitution - coding silent
COL7A1ENSG00000114270ENST00000328333p.?c.3760-5C>TUnknown
MAP4ENSG00000047849ENST00000420772p.P166Sc.496C>TSubstitution - Missense
PTPN23ENSG00000076201ENST00000265562p.V203Mc.607G>ASubstitution - Missense
PARVBENSG00000188677ENST00000406477p.?c.1045-8C>TUnknown
KIAA0930ENSG00000100364ENST00000336156p.D114Dc.342C>TSubstitution - coding silent
MPPED1ENSG00000186732ENST00000417669p.R3Cc.7C>TSubstitution - Missense
MPPED1ENSG00000186732ENST00000538182p.R36Cc.106C>TSubstitution - Missense
MEI1ENSG00000167077ENST00000300398p.G735Sc.2203G>ASubstitution - Missense
IFT122ENSG00000163913ENST00000296266p.P1239Sc.3715C>TSubstitution - Missense
TMCC1ENSG00000172765ENST00000393238p.V407Lc.1219G>TSubstitution - Missense
KDM8ENSG00000155666ENST00000286096p.L407Fc.1221G>CSubstitution - Missense
RASIP1ENSG00000105538ENST00000222145p.A929Ac.2787C>ASubstitution - coding silent
RASIP1ENSG00000105538ENST00000222145p.A929Ac.2787C>ASubstitution - coding silent
RASIP1ENSG00000105538ENST00000222145p.D899Dc.2697C>TSubstitution - coding silent
NUCB1ENSG00000104805ENST00000263273p.T42Ic.125C>TSubstitution - Missense
LMTK3ENSG00000142235ENST00000270238p.A1365Vc.4094C>TSubstitution - Missense
SU_LMR3p.A1304Vc.3911C>TSubstitution - Missense
SU_LMR3p.G231Rc.691G>ASubstitution - Missense
GLTSCR2ENSG00000105373ENST00000246802p.P236Sc.706C>TSubstitution - Missense
ENST00000317082_v61p.E417Kc.1249G>ASubstitution - Missense
C5AR1ENSG00000197405ENST00000355085p.L315Hc.944T>ASubstitution - Missense
CCDC8ENSG00000169515ENST00000307522p.P89Sc.265C>TSubstitution - Missense
PPP1R37ENSG00000104866ENST00000221462p.E594Kc.1780G>ASubstitution - Missense
GATAD2AENSG00000167491ENST00000360315p.G565Sc.1693G>ASubstitution - Missense
GATAD2AENSG00000167491ENST00000360315p.G422Sc.1264G>ASubstitution - Missense
KLF16ENSG00000129911ENST00000250916p.F168Lc.502T>CSubstitution - Missense
KXD1ENSG00000105700ENST00000540691p.T121Tc.363G>ASubstitution - coding silent
MAP1SENSG00000130479ENST00000324096p.P849Lc.2546C>TSubstitution - Missense
RPS6KA6ENSG00000072133ENST00000262752p.D658Yc.1972G>TSubstitution - Missense
MED12ENSG00000184634ENST00000374080p.T1988Tc.5964C>TSubstitution - coding silent
MED12ENSG00000184634ENST00000374080p.T1988Tc.5964C>TSubstitution - coding silent
TAF1ENSG00000147133ENST00000276072p.D23Dc.69C>TSubstitution - coding silent
TAF1ENSG00000147133ENST00000373790p.D23Dc.69C>TSubstitution - coding silent
OTUD6AENSG00000189401ENST00000338352p.D37Nc.109G>ASubstitution - Missense
MED12ENSG00000184634ENST00000374080p.R931Wc.2791C>TSubstitution - Missense
SPIN4ENSG00000186767ENST00000335144p.A16Ac.48A>CSubstitution - coding silent
CDKN2AENSG00000147889ENST00000304494p.A36Vc.107C>TSubstitution - Missense
WNK3ENSG00000196632ENST00000354646p.K111Rc.332A>GSubstitution - Missense
IFNA4ENSG00000236637ENST00000421715p.I124Tc.371T>CSubstitution - Missense
SLC24A2ENSG00000155886ENST00000341998p.A521Ac.1563G>TSubstitution - coding silent
SMARCA2ENSG00000080503ENST00000349721p.Q491Qc.1473G>ASubstitution - coding silent
SMARCA2ENSG00000080503ENST00000349721p.Q491Qc.1473G>ASubstitution - coding silent
CACNA1BENSG00000148408ENST00000371372p.A1908Ac.5724C>GSubstitution - coding silent
ANAPC2ENSG00000176248ENST00000323927p.P219Pc.657G>ASubstitution - coding silent
EXD3ENSG00000187609ENST00000340951p.R243Gc.727C>GSubstitution - Missense
C9orf141ENSG00000198454ENST00000371629p.P176Pc.528C>ASubstitution - coding silent
CALN1ENSG00000183166ENST00000329008p.R215Qc.644G>ASubstitution - Missense
NSUN5ENSG00000130305ENST00000438747p.E42Gc.125A>GSubstitution - Missense
NSUN5ENSG00000130305ENST00000252594p.E42Gc.125A>GSubstitution - Missense
CALN1ENSG00000183166ENST00000395275p.R257Qc.770G>ASubstitution - Missense
GRID2IPENSG00000215045ENST00000457091p.?c.3399+6C>TUnknown
GUSBENSG00000169919ENST00000304895p.E32Kc.94G>ASubstitution - Missense
GRID2IPENSG00000215045ENST00000457091p.G691Cc.2071G>TSubstitution - Missense
GRID2IPENSG00000215045ENST00000457091p.G691Cc.2071G>TSubstitution - Missense
FBN2ENSG00000138829ENST00000508053p.A1880Ac.5640G>ASubstitution - coding silent
SNX24ENSG00000064652ENST00000261369p.L128Lc.382C>TSubstitution - coding silent
PPARGC1AENSG00000109819ENST00000264867p.R580Rc.1738C>ASubstitution - coding silent
STOX2ENSG00000173320ENST00000308497p.G678Rc.2032G>ASubstitution - Missense
FBXW7ENSG00000109670ENST00000263981p.L24Lc.70C>TSubstitution - coding silent
ZNF827ENSG00000151612ENST00000379448p.G827Gc.2481C>TSubstitution - coding silent
TTC29ENSG00000137473ENST00000325106p.K66Nc.198G>TSubstitution - Missense
TBC1D9ENSG00000109436ENST00000442267p.G171Ec.512G>ASubstitution - Missense
TBC1D9ENSG00000109436ENST00000442267p.G171Ec.512G>ASubstitution - Missense
NM_001184p.L2093Lc.6277C>TSubstitution - coding silent
NUP210ENSG00000132182ENST00000254508p.S326Nc.977G>ASubstitution - Missense
DNAJC13ENSG00000138246ENST00000260818p.R1909Kc.5726G>ASubstitution - Missense
ACKR4ENSG00000129048ENST00000249887p.V53Ic.157G>ASubstitution - Missense
ADPRHENSG00000144843ENST00000357003p.A242Ac.726C>TSubstitution - coding silent
MAATS1ENSG00000183833ENST00000273390p.V47Mc.139G>ASubstitution - Missense
KIAA2018ENSG00000176542ENST00000316407p.Q1063*c.3187C>TSubstitution - Nonsense
SPOPLENSG00000144228ENST00000280098p.E352Kc.1054G>ASubstitution - Missense
ARHGEF4ENSG00000136002ENST00000326016p.Y398Yc.1194C>TSubstitution - coding silent
TBC1D10BENSG00000169221ENST00000409939p.L407Mc.1219C>ASubstitution - Missense
ZNF48ENSG00000180035ENST00000320159p.G309Ec.926G>ASubstitution - Missense
MAZENSG00000103495ENST00000219782p.I211Fc.631A>TSubstitution - Missense
MAZENSG00000103495ENST00000219782p.P232Lc.695C>TSubstitution - Missense
MAZENSG00000103495ENST00000322945p.P232Lc.695C>TSubstitution - Missense
FLYWCH1ENSG00000059122ENST00000416288p.L425fs*236c.1269_1270insCInsertion - Frameshift
ATXN2LENSG00000168488ENST00000336783p.Q859Qc.2577G>ASubstitution - coding silent
EIF3CENSG00000184110ENST00000331666p.?c.777-1G>AUnknown
KIAA0556ENSG00000047578ENST00000261588p.P720Sc.2158C>TSubstitution - Missense
XPO6ENSG00000169180ENST00000304658p.A1064Ac.3192C>TSubstitution - coding silent
KDM8ENSG00000155666ENST00000441782p.L445Fc.1335G>CSubstitution - Missense
DSTENSG00000151914ENST00000370765p.S2649Fc.7946C>TSubstitution - Missense
COL10A1ENSG00000123500ENST00000327673p.H581Yc.1741C>TSubstitution - Missense
FAM26EENSG00000178033ENST00000368599p.G159Dc.476G>ASubstitution - Missense
REV3LENSG00000009413ENST00000358835p.L2401Lc.7203G>TSubstitution - coding silent
NM_002912.1p.E1515fs*9c.4543delGDeletion - Frameshift
TRAF3IP2ENSG00000056972ENST00000368761p.N538fs*7c.1613delADeletion - Frameshift
AK9ENSG00000155085ENST00000424296p.I1322Vc.3964A>GSubstitution - Missense
GCNT6ENSG00000205318ENST00000417671p.V269Ic.805G>ASubstitution - Missense
PAK1IP1ENSG00000111845ENST00000379568p.P315Sc.943C>TSubstitution - Missense
ENST00000356843p.K231Kc.693A>GSubstitution - coding silent
EP300ENSG00000100393ENST00000263253p.P2358Lc.7073C>TSubstitution - Missense
CSNK1EENSG00000213923ENST00000359867p.P364Sc.1090C>TSubstitution - Missense
FAM227AENSG00000184949ENST00000355830p.R610Hc.1829G>ASubstitution - Missense
GGA1ENSG00000100083ENST00000343632p.P468Sc.1402C>TSubstitution - Missense
FOXRED2ENSG00000100350ENST00000397223p.I436Ic.1308C>TSubstitution - coding silent
CSF2RBENSG00000100368ENST00000403662p.V524Mc.1570G>ASubstitution - Missense
CSF2RBENSG00000100368ENST00000403662p.S834fs*4c.2495_2496delCTDeletion - Frameshift
MYH9ENSG00000100345ENST00000216181p.?c.3272+7A>GUnknown
PPAN-P2RY11ENSG00000243207ENST00000393796p.G445Rc.1333G>ASubstitution - Missense
ICAM5ENSG00000105376ENST00000221980p.C415Cc.1245C>TSubstitution - coding silent
CTDP1ENSG00000060069ENST00000299543p.D402Nc.1204G>ASubstitution - Missense
ZNF407ENSG00000215421ENST00000299687p.P1802Lc.5405C>TSubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.?c.768+2T>GUnknown
CBLN2ENSG00000141668ENST00000269503p.W211*c.633G>ASubstitution - Nonsense
TNMDENSG00000000005ENST00000373031p.G215fs*3c.634_635insAInsertion - Frameshift
SYTL4ENSG00000102362ENST00000372989p.V375Ac.1124T>CSubstitution - Missense
ENST00000255667p.D12Nc.34G>ASubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.A3462Tc.10384G>ASubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.?c.11121+2T>GUnknown
MEF2CENSG00000081189ENST00000514028p.E14Kc.40G>ASubstitution - Missense
MEF2CENSG00000081189ENST00000504921p.E14Kc.40G>ASubstitution - Missense
VCANENSG00000038427ENST00000265077p.T1780Tc.5340A>CSubstitution - coding silent
VCANENSG00000038427ENST00000265077p.E3196Kc.9586G>ASubstitution - Missense
ZFYVE16ENSG00000039319ENST00000338008p.G120Rc.358G>ASubstitution - Missense
MSH3ENSG00000113318ENST00000265081p.V304Mc.910G>ASubstitution - Missense
CDKL3ENSG00000006837ENST00000523832p.S134Sc.402C>ASubstitution - coding silent
CDKL3ENSG00000006837ENST00000523832p.Q384Ec.1150C>GSubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.G2207Gc.6621C>TSubstitution - coding silent
CACNA1GENSG00000006283ENST00000354983p.G2173Gc.6519C>TSubstitution - coding silent
C17orf104ENSG00000180336ENST00000409122p.Q218Rc.653A>GSubstitution - Missense
ATXN7L3ENSG00000087152ENST00000389384p.W296*c.888G>ASubstitution - Nonsense
AOC3ENSG00000131471ENST00000308423p.G580Vc.1739G>TSubstitution - Missense
HSD17B1ENSG00000108786ENST00000225929p.G286Dc.857G>ASubstitution - Missense
ANKFY1ENSG00000185722ENST00000574367p.R1155Qc.3464G>ASubstitution - Missense
ACLYENSG00000131473ENST00000352035p.G734Gc.2202C>TSubstitution - coding silent
PTRFENSG00000177469ENST00000357037p.G183Gc.549C>TSubstitution - coding silent
HAP1ENSG00000173805ENST00000347901p.P164Sc.490C>TSubstitution - Missense
HAP1ENSG00000173805ENST00000347901p.S95Sc.285T>ASubstitution - coding silent
MSH2ENSG00000095002ENST00000233146p.Q429*c.1285C>TSubstitution - Nonsense
SOS1ENSG00000115904ENST00000426016p.E590Ec.1770G>ASubstitution - coding silent
ACACAENSG00000132142ENST00000353139p.E554Vc.1661A>TSubstitution - Missense
ACACAENSG00000132142ENST00000353139p.A140Ac.420T>ASubstitution - coding silent
ACACAENSG00000132142ENST00000360679p.A45Ac.135T>ASubstitution - coding silent
ENST00000338839p.G230Rc.688G>CSubstitution - Missense
LYZL6ENSG00000161572ENST00000293274p.?c.139+7A>GUnknown
ASIC2ENSG00000108684ENST00000225823p.S249Lc.746C>TSubstitution - Missense
ENSG00000272514ENST00000369562p.S146Fc.437C>TSubstitution - Missense
PHIPENSG00000146247ENST00000275034p.K1809fs*2c.5426delADeletion - Frameshift
AHI1ENSG00000135541ENST00000367800p.V1009Ic.3025G>ASubstitution - Missense
BCLAF1ENSG00000029363ENST00000531224p.S319Sc.957C>TSubstitution - coding silent
MYBENSG00000118513ENST00000367814p.E446fs*6c.1334_1335insAInsertion - Frameshift
TAAR6ENSG00000146383ENST00000275198p.P308Hc.923C>ASubstitution - Missense
MED23ENSG00000112282ENST00000368068p.?c.2221-1G>TUnknown
MED23ENSG00000112282ENST00000354577p.?c.2239-1G>TUnknown
ZNF462ENSG00000148143ENST00000277225p.R1148Sc.3444A>TSubstitution - Missense
MURCENSG00000170681ENST00000307584p.P327Sc.979C>TSubstitution - Missense
ENST00000409686p.N366Ic.1097A>TSubstitution - Missense
MTBPENSG00000172167ENST00000305949p.T874Ic.2621C>TSubstitution - Missense
SNTB1ENSG00000172164ENST00000395601p.G71Gc.213C>GSubstitution - coding silent
NOVENSG00000136999ENST00000259526p.T49Sc.145A>TSubstitution - Missense
CD109ENSG00000156535ENST00000287097p.E1116Ec.3348A>GSubstitution - coding silent
PKHD1L1ENSG00000205038ENST00000378402p.R2768Kc.8303G>ASubstitution - Missense
RIMS1ENSG00000079841ENST00000521978p.E670Gc.2009A>GSubstitution - Missense
EYSENSG00000188107ENST00000370621p.C952fs*16c.2854delTDeletion - Frameshift
BAI3ENSG00000135298ENST00000370598p.*1523fs?c.4568delADeletion - Frameshift
GBGT1ENSG00000148288ENST00000372040p.V234Ic.700G>ASubstitution - Missense
MED22ENSG00000148297ENST00000343730p.R114Wc.340C>TSubstitution - Missense
TSC1ENSG00000165699ENST00000298552p.?c.1029+109_1998-272del6619Unknown
RALGDSENSG00000160271ENST00000372050p.E472Kc.1414G>ASubstitution - Missense
PDGFRBENSG00000113721ENST00000261799p.A640Ac.1920C>TSubstitution - coding silent
POMT1ENSG00000130714ENST00000372228p.G722Rc.2164G>ASubstitution - Missense
POMT1ENSG00000130714ENST00000372220p.G321Rc.961G>ASubstitution - Missense
RAPGEF1ENSG00000107263ENST00000372190p.A4Ac.12T>CSubstitution - coding silent
SETXENSG00000107290ENST00000224140p.Q1639Qc.4917G>ASubstitution - coding silent
ABLIM3ENSG00000173210ENST00000309868p.A533Ac.1599C>TSubstitution - coding silent
CSNK1A1ENSG00000113712ENST00000515768p.G187Dc.560G>ASubstitution - Missense
TCERG1ENSG00000113649ENST00000296702p.M594Ic.1782G>TSubstitution - Missense
FCHSD1ENSG00000197948ENST00000435817p.L350Lc.1048C>TSubstitution - coding silent
PCDHGA10ENSG00000253846ENST00000398610p.L356Lc.1068A>GSubstitution - coding silent
PCDHGB3ENSG00000262209ENST00000576222p.A757Ac.2271C>TSubstitution - coding silent
PCDHGB2ENSG00000253910ENST00000522605p.L717Fc.2149C>TSubstitution - Missense
PCDHGB2ENSG00000253910ENST00000522605p.L717Fc.2149C>TSubstitution - Missense
DCUN1D1ENSG00000043093ENST00000292782p.Q87Qc.261G>ASubstitution - coding silent
MCCC1ENSG00000078070ENST00000265594p.?c.639+5G>AUnknown
PEX5LENSG00000114757ENST00000467460p.L535Pc.1604T>CSubstitution - Missense
NLGN1ENSG00000169760ENST00000401917p.D291Dc.873C>TSubstitution - coding silent
TBL1XR1ENSG00000177565ENST00000430069p.?c.1048-1G>TUnknown
PLD1ENSG00000075651ENST00000351298p.D471Gc.1412A>GSubstitution - Missense
ZNF571ENSG00000180479ENST00000328550p.F400Fc.1200T>CSubstitution - coding silent
APBA3ENSG00000011132ENST00000316757p.G20Ec.59G>ASubstitution - Missense
ZNF585BENSG00000245680ENST00000532828p.T741fs*>29c.2221_2222delACDeletion - Frameshift
ATP4AENSG00000105675ENST00000262623p.L114Lc.342C>ASubstitution - coding silent
WTIPENSG00000142279ENST00000270288p.D331Nc.991G>ASubstitution - Missense
PPM1EENSG00000175175ENST00000308249p.Y11Cc.32A>GSubstitution - Missense
SMG8ENSG00000167447ENST00000300917p.I800Nc.2399T>ASubstitution - Missense
TUBD1ENSG00000108423ENST00000325752p.L189Wc.566T>GSubstitution - Missense
MTMR4ENSG00000108389ENST00000323456p.G912Ec.2735G>ASubstitution - Missense
UTP18ENSG00000011260ENST00000225298p.V473Ic.1417G>ASubstitution - Missense
ZNF594ENSG00000180626ENST00000399604p.K109Ec.325A>GSubstitution - Missense
KIF1CENSG00000129250ENST00000320785p.E442Kc.1324G>ASubstitution - Missense
ACBD4ENSG00000181513ENST00000431281p.T50Ic.149C>TSubstitution - Missense
ACBD4ENSG00000181513ENST00000398322p.T50Ic.149C>TSubstitution - Missense
ACBD4ENSG00000181513ENST00000398322p.P213Lc.638C>TSubstitution - Missense
CACNA1GENSG00000006283ENST00000354983p.P1238Hc.3713C>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000416767p.P1261Hc.3782C>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.P1261Hc.3782C>ASubstitution - Missense
PCDHA4ENSG00000204967ENST00000530339p.S399Fc.1196C>TSubstitution - Missense
PCDHA4ENSG00000204967ENST00000356878p.S399Fc.1196C>TSubstitution - Missense
PCDHA1ENSG00000204970ENST00000504120p.Y460Cc.1379A>GSubstitution - Missense
WDR55ENSG00000120314ENST00000358337p.D334Dc.1002C>TSubstitution - coding silent
KDM3BENSG00000120733ENST00000314358p.R1661Pc.4982G>CSubstitution - Missense
KIF20AENSG00000112984ENST00000394894p.F471Vc.1411T>GSubstitution - Missense
CDC23ENSG00000094880ENST00000394886p.?c.655-8G>TUnknown
MAMLD1ENSG00000013619ENST00000370401p.A386Ac.1158C>TSubstitution - coding silent
NM_005491.1p.A313Ac.939C>TSubstitution - coding silent
MTMR1ENSG00000063601ENST00000370390p.A63Ac.189T>GSubstitution - coding silent
PRRG3ENSG00000130032ENST00000538575p.G165fs*7c.488delGDeletion - Frameshift
FMR1ENSG00000102081ENST00000370475p.P38Ac.112C>GSubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.P559Lc.1676C>TSubstitution - Missense
MAGEC3ENSG00000165509ENST00000298296p.I225Ic.675C>TSubstitution - coding silent
ARHGEF6ENSG00000129675ENST00000250617p.Y188Yc.564C>TSubstitution - coding silent
TCEANCENSG00000176896ENST00000314720p.Q291Qc.873G>ASubstitution - coding silent
OTTHUMT00000055796.1p.Q291Qc.873G>ASubstitution - coding silent
SFRP4ENSG00000106483ENST00000436072p.V143Vc.429C>TSubstitution - coding silent
CCDC129ENSG00000180347ENST00000407970p.L205Lc.615G>ASubstitution - coding silent
CCDC129ENSG00000180347ENST00000319386p.L205Lc.615G>ASubstitution - coding silent
CYP2A7ENSG00000198077ENST00000301146p.A131Sc.391G>TSubstitution - Missense
CYP2B6ENSG00000197408ENST00000324071p.H189Hc.567C>TSubstitution - coding silent
SERTAD3ENSG00000167565ENST00000392028p.T61Pc.181A>CSubstitution - Missense
ZNF780AENSG00000197782ENST00000340963p.G155Ec.464G>ASubstitution - Missense
AKT2ENSG00000105221ENST00000392038p.E249Kc.745G>ASubstitution - Missense
PLD3ENSG00000105223ENST00000409587p.R466Kc.1397G>ASubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.S4877Cc.14630C>GSubstitution - Missense
EID2ENSG00000176396ENST00000390658p.P138Lc.413C>TSubstitution - Missense
ECM2ENSG00000106823ENST00000344604p.E656Kc.1966G>ASubstitution - Missense
RYR1ENSG00000196218ENST00000359596p.?c.2786+7G>CUnknown
RYR1ENSG00000196218ENST00000359596p.R975Rc.2925G>ASubstitution - coding silent
ROR2ENSG00000169071ENST00000375708p.M198Lc.592A>TSubstitution - Missense
SPTLC1ENSG00000090054ENST00000262554p.L277Rc.830T>GSubstitution - Missense
TRPM6ENSG00000119121ENST00000451710p.K1085Qc.3253A>CSubstitution - Missense
C9orf40ENSG00000135045ENST00000376854p.P162Sc.484C>TSubstitution - Missense
EGFL7ENSG00000172889ENST00000371698p.?c.198-7C>TUnknown
NM_014866.1p.S949Nc.2846G>ASubstitution - Missense
AOC1ENSG00000002726ENST00000360937p.?c.1857-7C>TUnknown
ZNF282ENSG00000170265ENST00000262085p.T128Ic.383C>TSubstitution - Missense
DGKBENSG00000136267ENST00000403951p.E175Kc.523G>ASubstitution - Missense
MICALL2ENSG00000164877ENST00000297508p.P685Sc.2053C>TSubstitution - Missense
OR2A5ENSG00000221836ENST00000408906p.A66Ac.198C>ASubstitution - coding silent
ARHGEF35ENSG00000213214ENST00000378115p.A425Vc.1274C>TSubstitution - Missense
METENSG00000105976ENST00000318493p.R811Hc.2432G>ASubstitution - Missense
LRRN3ENSG00000173114ENST00000308478p.E85Ec.255A>GSubstitution - coding silent
LRRN3ENSG00000173114ENST00000308478p.E138Gc.413A>GSubstitution - Missense
LRRN3ENSG00000173114ENST00000308478p.Y146Sc.437A>CSubstitution - Missense
NAMPTENSG00000105835ENST00000222553p.K342Kc.1026G>ASubstitution - coding silent
PRRC2AENSG00000204469ENST00000376033p.P913Pc.2739C>ASubstitution - coding silent
HLA-CENSG00000204525ENST00000376228p.Q250Ec.748C>GSubstitution - Missense
ENST00000539307p.Q287Ec.859C>GSubstitution - Missense
TRIM39ENSG00000204599ENST00000376656p.?c.1010-7C>TUnknown
PPP1R10ENSG00000204569ENST00000376511p.G844Rc.2530G>ASubstitution - Missense
ATAT1ENSG00000137343ENST00000330083p.I67Vc.199A>GSubstitution - Missense
ATAT1ENSG00000137343ENST00000376483p.I79Vc.235A>GSubstitution - Missense
MOGENSG00000204655ENST00000376917p.A160Tc.478G>ASubstitution - Missense
MOGENSG00000204655ENST00000494692p.A160Tc.478G>ASubstitution - Missense
HLA-FENSG00000204642ENST00000259951p.T249Ic.746C>TSubstitution - Missense
HLA-FENSG00000204642ENST00000376861p.T249Ic.746C>TSubstitution - Missense
HLA-AENSG00000206503ENST00000396634p.W23fs*77c.60_61insCAGAInsertion - Frameshift
TRIM31ENSG00000204616ENST00000376734p.R282Kc.845G>ASubstitution - Missense
ZSCAN12ENSG00000158691ENST00000361028p.G313Gc.939G>ASubstitution - coding silent
HIST1H2BNENSG00000233822ENST00000449538p.G115Dc.344G>ASubstitution - Missense
POM121L2ENSG00000158553ENST00000444565p.V623Ic.1867G>ASubstitution - Missense
ATP10BENSG00000118322ENST00000327245p.R512Qc.1535G>ASubstitution - Missense
KIF4BENSG00000226650ENST00000435029p.E905Kc.2713G>ASubstitution - Missense
KIF4BENSG00000226650ENST00000435029p.E905Kc.2713G>ASubstitution - Missense
FAT2ENSG00000086570ENST00000261800p.H3982Qc.11946C>GSubstitution - Missense
NMUR2ENSG00000132911ENST00000255262p.L397Fc.1189C>TSubstitution - Missense
CD74ENSG00000019582ENST00000009530p.M32Ic.96G>ASubstitution - Missense
PCDHB3ENSG00000113205ENST00000231130p.F774fs*>18c.2319_2335>TComplex - frameshift
PCDHB4ENSG00000081818ENST00000194152p.E119Kc.355G>ASubstitution - Missense
PCDHA12ENSG00000251664ENST00000398631p.W606*c.1818G>ASubstitution - Nonsense
PCDHA11ENSG00000249158ENST00000398640p.G97Ec.290G>ASubstitution - Missense
SLC1A6ENSG00000105143ENST00000221742p.I436Ic.1308C>ASubstitution - coding silent
CASP14ENSG00000105141ENST00000427043p.?c.625-10G>AUnknown
TNRC6AENSG00000090905ENST00000395799p.G972Rc.2914G>ASubstitution - Missense
TNRC6AENSG00000090905ENST00000395799p.V1255Vc.3765C>TSubstitution - coding silent
NPIPB5ENSG00000243716ENST00000424340p.P460fs*12c.1377_1563>17Unknown
NPIPB5ENSG00000243716ENST00000424340p.P460fs*12c.1377_1563>17Unknown
POLR3EENSG00000058600ENST00000299853p.G343Sc.1027G>ASubstitution - Missense
ENST00000382453p.G214Gc.642G>ASubstitution - coding silent
METTL9ENSG00000197006ENST00000358154p.D310Dc.930C>TSubstitution - coding silent
HPRENSG00000261701ENST00000540303p.V167Ec.500T>ASubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.Q3588Qc.10764G>ASubstitution - coding silent
ENST00000316490_v65p.V1456Vc.4368T>GSubstitution - coding silent
ENST00000316490p.V1408Vc.4224T>GSubstitution - coding silent
ENST00000316490_v65p.V2799Lc.8395G>CSubstitution - Missense
ENST00000316490p.V2751Lc.8251G>CSubstitution - Missense
IL34ENSG00000157368ENST00000288098p.S178Pc.532T>CSubstitution - Missense
ENST00000532298p.?c.121-2A>TUnknown
TERF2ENSG00000132604ENST00000254942p.F59Lc.175T>CSubstitution - Missense
ZFPM2ENSG00000169946ENST00000407775p.A1025Ac.3075T>CSubstitution - coding silent
ZFPM2ENSG00000169946ENST00000407775p.A1026Sc.3076G>TSubstitution - Missense
ANGPT1ENSG00000154188ENST00000297450p.?c.1036-1G>AUnknown
C8orf74ENSG00000171060ENST00000304519p.H164Hc.492C>TSubstitution - coding silent
VPS13BENSG00000132549ENST00000358544p.E1376Kc.4126G>ASubstitution - Missense
VPS13BENSG00000132549ENST00000357162p.P1565Pc.4695C>TSubstitution - coding silent
VPS13BENSG00000132549ENST00000358544p.G1613Gc.4839A>GSubstitution - coding silent
VPS13BENSG00000132549ENST00000357162p.G1588Gc.4764A>GSubstitution - coding silent
ACTBENSG00000075624ENST00000331789p.D3Ec.9T>ASubstitution - Missense
ACTBENSG00000075624ENST00000417101p.?c.4-1G>CUnknown
ACTBENSG00000075624ENST00000417101p.?c.4-7C>GUnknown
TNRC18ENSG00000182095ENST00000430969p.S137fs*105c.408delCDeletion - Frameshift
GRB10ENSG00000106070ENST00000403097p.C528Rc.1582T>CSubstitution - Missense
COBLENSG00000106078ENST00000265136p.T909Ic.2726C>TSubstitution - Missense
ENST00000404991_v68p.Q87*c.259C>TSubstitution - Nonsense
PKD1L1ENSG00000158683ENST00000289672p.Y2350Nc.7048T>ASubstitution - Missense
C7orf57ENSG00000164746ENST00000348904p.P257Ac.769C>GSubstitution - Missense
C7orf57ENSG00000164746ENST00000348904p.P257Ac.769C>GSubstitution - Missense
TBRG4ENSG00000136270ENST00000258770p.A591Vc.1772C>TSubstitution - Missense
ADCY1ENSG00000164742ENST00000297323p.K593Nc.1779A>TSubstitution - Missense
FOXK1ENSG00000164916ENST00000328914p.G167Dc.500G>ASubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.?c.11671-7C>TUnknown
SMARCD3ENSG00000082014ENST00000262188p.E384Kc.1150G>ASubstitution - Missense
SLC4A10ENSG00000144290ENST00000375514p.R57*c.169C>TSubstitution - Nonsense
FAPENSG00000078098ENST00000188790p.Y130Cc.389A>GSubstitution - Missense
SGSM1ENSG00000167037ENST00000400358p.A856Sc.2566G>TSubstitution - Missense
LZTR1ENSG00000099949ENST00000215739p.?c.651+1G>AUnknown
PI4KAENSG00000241973ENST00000572273p.A1555Ac.4665G>TSubstitution - coding silent
ITGB8ENSG00000105855ENST00000222573p.V301Ac.902T>CSubstitution - Missense
FAM20CENSG00000177706ENST00000313766p.E217Ec.651G>ASubstitution - coding silent
ELFN1ENSG00000225968ENST00000424383p.Q57Hc.171G>CSubstitution - Missense
UBE3CENSG00000009335ENST00000348165p.?c.2951-1G>TUnknown
KMT2CENSG00000055609ENST00000262189p.P2468Sc.7402C>TSubstitution - Missense
MAN2B2ENSG00000013288ENST00000285599p.R70Rc.210C>TSubstitution - coding silent
LPHN3ENSG00000150471ENST00000512091p.N92Nc.276T>CSubstitution - coding silent
LPHN3ENSG00000150471ENST00000512091p.N92Nc.276T>CSubstitution - coding silent
KDRENSG00000128052ENST00000263923p.V1207Ec.3620T>ASubstitution - Missense
LRRC66ENSG00000188993ENST00000343457p.A431Ac.1293T>GSubstitution - coding silent
TANC1ENSG00000115183ENST00000263635p.K248Nc.744A>TSubstitution - Missense
ERMNENSG00000136541ENST00000397283p.Y56Cc.167A>GSubstitution - Missense
ERMNENSG00000136541ENST00000397283p.G28Ec.83G>ASubstitution - Missense
GALNT13ENSG00000144278ENST00000392825p.V10Vc.30T>CSubstitution - coding silent
NEBENSG00000183091ENST00000427231p.?c.17119-5T>CUnknown
NEBENSG00000183091ENST00000397345p.?c.17119-5T>CUnknown
NEBENSG00000183091ENST00000427231p.E4361Kc.13081G>ASubstitution - Missense
EPC2ENSG00000135999ENST00000258484p.S650Nc.1949G>ASubstitution - Missense
PREX1ENSG00000124126ENST00000371941p.T232Sc.695C>GSubstitution - Missense
SULF2ENSG00000196562ENST00000359930p.N732Nc.2196C>TSubstitution - coding silent
PIGTENSG00000124155ENST00000279036p.L171Lc.513G>ASubstitution - coding silent
PIGTENSG00000124155ENST00000279036p.L171Lc.513G>ASubstitution - coding silent
SEMG2ENSG00000124157ENST00000372769p.Q335*c.1003C>TSubstitution - Nonsense
SLC32A1ENSG00000101438ENST00000217420p.L468Fc.1402C>TSubstitution - Missense
ZNF234ENSG00000263002ENST00000426739p.K64fs*4c.185delADeletion - Frameshift
ZNF221ENSG00000159905ENST00000251269p.D48Dc.144C>TSubstitution - coding silent
MEGF8ENSG00000105429ENST00000334370p.E1895Kc.5683G>ASubstitution - Missense
MVB12AENSG00000141971ENST00000317040p.?c.287-5C>TUnknown
OR10H4ENSG00000176231ENST00000322107p.Y261Cc.782A>GSubstitution - Missense
TCF3ENSG00000071564ENST00000344749p.N551Kc.1653T>GSubstitution - Missense
TENM2ENSG00000145934ENST00000519204p.R2180Hc.6539G>ASubstitution - Missense
TACC3ENSG00000013810ENST00000313288p.H307Lc.920A>TSubstitution - Missense
TACC3ENSG00000013810ENST00000313288p.E695Dc.2085A>TSubstitution - Missense
SPOCK3ENSG00000196104ENST00000357545p.A12Tc.34G>ASubstitution - Missense
DDX60LENSG00000181381ENST00000260184p.A716Tc.2146G>ASubstitution - Missense
FNIP2ENSG00000052795ENST00000264433p.C745fs*9c.2233_2234insTInsertion - Frameshift
FNIP2ENSG00000052795ENST00000264433p.C71fs*9c.211_212insTInsertion - Frameshift
ADIPOQENSG00000181092ENST00000320741p.V194Vc.582G>ASubstitution - coding silent
ST6GAL1ENSG00000073849ENST00000169298p.S50Sc.150T>CSubstitution - coding silent
CLDN16ENSG00000113946ENST00000264734p.?c.325-8A>TUnknown
TBCCD1ENSG00000113838ENST00000338733p.T403Ac.1207A>GSubstitution - Missense
DNAJB11ENSG00000090520ENST00000439351p.D40Dc.120T>CSubstitution - coding silent
EIF4G1ENSG00000114867ENST00000319274p.W1396*c.4188G>ASubstitution - Nonsense
EIF2B5ENSG00000145191ENST00000273783p.?c.320+7C>TUnknown
YEATS2ENSG00000163872ENST00000305135p.?c.3325+1G>AUnknown
PRRC2BENSG00000130723ENST00000357304p.D815Dc.2445C>TSubstitution - coding silent
FNBP1ENSG00000187239ENST00000446176p.S359Tc.1075T>ASubstitution - Missense
SPTAN1ENSG00000197694ENST00000372731p.E2407Dc.7221G>TSubstitution - Missense
PKN3ENSG00000160447ENST00000291906p.R431Hc.1292G>ASubstitution - Missense
NUP188ENSG00000095319ENST00000372577p.D231Dc.693C>TSubstitution - coding silent
PTGES2ENSG00000148334ENST00000338961p.R342Hc.1025G>ASubstitution - Missense
NM_003829.1p.S1811Rc.5433T>GSubstitution - Missense
CERCAMENSG00000167123ENST00000372838p.V259Vc.777C>TSubstitution - coding silent
ST6GALNAC6ENSG00000160408ENST00000373146p.L15Mc.43C>ASubstitution - Missense
GOLGA1ENSG00000136935ENST00000373555p.G175Gc.525G>ASubstitution - coding silent
TRAF1ENSG00000056558ENST00000373887p.P19Lc.56C>TSubstitution - Missense
TRAF1ENSG00000056558ENST00000373887p.S7Ic.20G>TSubstitution - Missense
MEGF9ENSG00000106780ENST00000426959p.R576Rc.1728C>TSubstitution - coding silent
KIF12ENSG00000136883ENST00000374118p.E480Kc.1438G>ASubstitution - Missense
TSNARE1ENSG00000171045ENST00000307180p.?c.1074+8G>AUnknown
ZNF618ENSG00000157657ENST00000288466p.P258Lc.773C>TSubstitution - Missense
ZNF618ENSG00000157657ENST00000374126p.P270Lc.809C>TSubstitution - Missense
FAM135BENSG00000147724ENST00000395297p.T1360Sc.4078A>TSubstitution - Missense
FAM135BENSG00000147724ENST00000395297p.T1360Sc.4078A>TSubstitution - Missense
RNF139ENSG00000170881ENST00000303545p.R387Rc.1161T>CSubstitution - coding silent
CCDC173ENSG00000154479ENST00000447353p.K233Rc.698A>GSubstitution - Missense
XIRP2ENSG00000163092ENST00000295237p.L378Rc.1133T>GSubstitution - Missense
SCN9AENSG00000169432ENST00000375387p.K495Kc.1485G>ASubstitution - coding silent
SCN9AENSG00000169432ENST00000375387p.F1800Vc.5398T>GSubstitution - Missense
SCN2AENSG00000136531ENST00000375427p.T1250Ic.3749C>TSubstitution - Missense
PXDNENSG00000130508ENST00000252804p.N699Nc.2097C>TSubstitution - coding silent
SLC4A10ENSG00000144290ENST00000446997p.R46*c.136C>TSubstitution - Nonsense
OR51I2ENSG00000187918ENST00000341449p.G40Gc.120G>ASubstitution - coding silent
USP47ENSG00000170242ENST00000399455p.T1346Ic.4037C>TSubstitution - Missense
CRTAC1ENSG00000095713ENST00000370591p.R108Qc.323G>ASubstitution - Missense
LDB3ENSG00000122367ENST00000458213p.S459Fc.1376C>TSubstitution - Missense
KNDC1ENSG00000171798ENST00000368572p.T971Mc.2912C>TSubstitution - Missense
KNDC1ENSG00000171798ENST00000368572p.K1149Mc.3446A>TSubstitution - Missense
NUDT5ENSG00000165609ENST00000378937p.E2Ec.6G>ASubstitution - coding silent
NUDT5ENSG00000165609ENST00000444732p.E2Ec.6G>ASubstitution - coding silent
BCCIPENSG00000107949ENST00000368759p.K46Kc.138G>ASubstitution - coding silent
DOCK1ENSG00000150760ENST00000280333p.Y1541Yc.4623C>TSubstitution - coding silent
KIAA1598ENSG00000187164ENST00000392903p.S619Nc.1856G>ASubstitution - Missense
FMR1ENSG00000102081ENST00000334557p.P38Ac.112C>GSubstitution - Missense
CYP2A7ENSG00000198077ENST00000291764p.A80Sc.238G>TSubstitution - Missense
RAPGEF4ENSG00000091428ENST00000264111p.S357Fc.1070C>TSubstitution - Missense
TACC1ENSG00000147526ENST00000379931p.E424Kc.1270G>ASubstitution - Missense
MPLENSG00000117400ENST00000413998p.I161Ic.483C>TSubstitution - coding silent
GPR115ENSG00000153294ENST00000327753p.S211Sc.633C>TSubstitution - coding silent
GPR115ENSG00000153294ENST00000371220p.S268Sc.804C>TSubstitution - coding silent
HSP90AB1ENSG00000096384ENST00000371646p.A112Tc.334G>ASubstitution - Missense
HSP90AB1ENSG00000096384ENST00000371646p.?c.1315-9C>TUnknown
ENPP5ENSG00000112796ENST00000371383p.H379Hc.1137C>TSubstitution - coding silent
GTPBP2ENSG00000172432ENST00000307126p.P39fs*26c.108_109insGInsertion - Frameshift
CRIP3ENSG00000146215ENST00000372569p.?c.138+7C>TUnknown
CRIP3ENSG00000146215ENST00000274990p.?c.138+7C>TUnknown
GRM4ENSG00000124493ENST00000374177p.I561Ic.1683C>ASubstitution - coding silent
HLA-DQA1ENSG00000196735ENST00000374949p.K190Ec.568A>GSubstitution - Missense
TNXBENSG00000168477ENST00000375244p.I1632Vc.4894A>GSubstitution - Missense
TNXBENSG00000168477ENST00000375247p.D1384Nc.4150G>ASubstitution - Missense
NM_018695.1p.A916Vc.2747C>TSubstitution - Missense
GPBP1ENSG00000062194ENST00000506184p.T81Sc.241A>TSubstitution - Missense
ESM1ENSG00000164283ENST00000381405p.A19Vc.56C>TSubstitution - Missense
EMBENSG00000170571ENST00000303221p.T179Tc.537A>GSubstitution - coding silent
PROP1ENSG00000175325ENST00000308304p.Y93Cc.278A>GSubstitution - Missense
OXCT1ENSG00000083720ENST00000196371p.H340Yc.1018C>TSubstitution - Missense
NSD1ENSG00000165671ENST00000439151p.D648Dc.1944C>TSubstitution - coding silent
STK40ENSG00000196182ENST00000373130p.I337Nc.1010T>ASubstitution - Missense
COX20ENSG00000203667ENST00000366528p.H60Yc.178C>TSubstitution - Missense
SPRTNENSG00000010072ENST00000366644p.R85Wc.253A>TSubstitution - Missense
KCNK1ENSG00000135750ENST00000446915p.R89Cc.265C>TSubstitution - Missense
KCNK1ENSG00000135750ENST00000366620p.R55Cc.163C>TSubstitution - Missense
GUK1ENSG00000143774ENST00000366722p.?c.155-5C>TUnknown
USH2AENSG00000042781ENST00000366943p.G2317Dc.6950G>ASubstitution - Missense
TNNT2ENSG00000118194ENST00000360372p.?c.555+10G>AUnknown
TNNT2ENSG00000118194ENST00000360372p.M177Kc.530T>ASubstitution - Missense
LGR6ENSG00000133067ENST00000255432p.V847Vc.2541G>ASubstitution - coding silent
DDX59ENSG00000118197ENST00000367348p.P313Sc.937C>TSubstitution - Missense
COLGALT2ENSG00000198756ENST00000367520p.P132Hc.395C>ASubstitution - Missense
ENST00000318130_v70p.N316Ic.947A>TSubstitution - Missense
FCGR2BENSG00000072694ENST00000428605p.L204Lc.610C>TSubstitution - coding silent
ENST00000367790_v70p.P512Sc.1534C>TSubstitution - Missense
ILF2ENSG00000143621ENST00000368681p.F34Fc.102C>TSubstitution - coding silent
ENST00000368677p.?c.232-9C>TUnknown
GDAP2ENSG00000196505ENST00000369442p.V435Vc.1305G>ASubstitution - coding silent
EXOSC10ENSG00000171824ENST00000544779p.P595Lc.1784C>TSubstitution - Missense
AGLENSG00000162688ENST00000361522p.Y30Hc.88T>CSubstitution - Missense
AGLENSG00000162688ENST00000361522p.?c.2258-1G>AUnknown
ZC3H13ENSG00000123200ENST00000242848p.H733Hc.2199C>TSubstitution - coding silent
MYO16ENSG00000041515ENST00000251041p.W127Rc.379T>ASubstitution - Missense
VWFENSG00000110799ENST00000572068p.T57Ic.170C>TSubstitution - Missense
MON2ENSG00000061987ENST00000280379p.I190Vc.568A>GSubstitution - Missense
ANO6ENSG00000177119ENST00000441606p.?c.2164-4A>GUnknown
ANO6ENSG00000177119ENST00000441606p.A726Ac.2178T>CSubstitution - coding silent
ANO6ENSG00000177119ENST00000441606p.Y737Fc.2210A>TSubstitution - Missense
RIMBP2ENSG00000060709ENST00000536002p.P409Pc.1227C>TSubstitution - coding silent
RIMBP2ENSG00000060709ENST00000536002p.D174Ec.522C>GSubstitution - Missense
CLIP1ENSG00000130779ENST00000540338p.G1356Rc.4066G>ASubstitution - Missense
IQCDENSG00000166578ENST00000416617p.E117Ec.351G>ASubstitution - coding silent
SHANK2ENSG00000162105ENST00000423696p.A998Vc.2993C>TSubstitution - Missense
CTNND1ENSG00000198561ENST00000399050p.R233Rc.699G>ASubstitution - coding silent
CTNND1ENSG00000198561ENST00000361391p.R233Rc.699G>ASubstitution - coding silent
OR8H3ENSG00000181761ENST00000313472p.T181Ic.542C>TSubstitution - Missense
OR52B6ENSG00000187747ENST00000345043p.A73Tc.217G>ASubstitution - Missense
UBQLNLENSG00000175518ENST00000380184p.R183Wc.547C>TSubstitution - Missense
C20orf24ENSG00000101084ENST00000373852p.?c.219-9T>CUnknown
C20orf96ENSG00000196476ENST00000382369p.?c.461-5C>TUnknown
SLC25A23ENSG00000125648ENST00000334510p.P396Lc.1187C>TSubstitution - Missense
TRIP10ENSG00000125733ENST00000596758p.R222Hc.665G>ASubstitution - Missense
PTPRSENSG00000105426ENST00000372412p.P358Sc.1072C>TSubstitution - Missense
ARHGAP35ENSG00000160007ENST00000404338p.E417Kc.1249G>ASubstitution - Missense
PTOV1ENSG00000104960ENST00000221557p.G360Gc.1080G>ASubstitution - coding silent
ZFP36ENSG00000128016ENST00000597629p.P26Sc.76C>TSubstitution - Missense
GATAD2AENSG00000167491ENST00000404158p.G566Sc.1696G>ASubstitution - Missense
ZNF407ENSG00000215421ENST00000577538p.P1802Lc.5405C>TSubstitution - Missense
EPB41L3ENSG00000082397ENST00000542146p.V345Ic.1033G>ASubstitution - Missense
PTPN2ENSG00000175354ENST00000327283p.L249Pc.746T>CSubstitution - Missense
ZNF397ENSG00000186812ENST00000585800p.P179Lc.536C>TSubstitution - Missense
WDR16ENSG00000166596ENST00000299764p.L378Lc.1132C>TSubstitution - coding silent
HAP1ENSG00000173805ENST00000310778p.P164Sc.490C>TSubstitution - Missense
COASYENSG00000068120ENST00000590958p.L383Pc.1148T>CSubstitution - Missense
COASYENSG00000068120ENST00000590958p.N510Nc.1530C>TSubstitution - coding silent
MED24ENSG00000008838ENST00000394128p.L108Lc.322C>TSubstitution - coding silent
RAI1ENSG00000108557ENST00000261641p.R999Qc.2996G>ASubstitution - Missense
SREBF1ENSG00000072310ENST00000338854p.A541Vc.1622C>TSubstitution - Missense
ATXN2LENSG00000168488ENST00000325215p.Q859Qc.2577G>ASubstitution - coding silent
BAIAP3ENSG00000007516ENST00000397488p.V755Vc.2265G>ASubstitution - coding silent
CACNA1HENSG00000196557ENST00000348261p.R1284Hc.3851G>ASubstitution - Missense
PIGBENSG00000069943ENST00000164305p.P451Sc.1351C>TSubstitution - Missense
DUOX1ENSG00000137857ENST00000561166p.?c.1757-8C>TUnknown
CEP152ENSG00000103995ENST00000380950p.C1391Yc.4172G>ASubstitution - Missense
CEP152ENSG00000103995ENST00000380950p.E301Kc.901G>ASubstitution - Missense
KIAA1107ENSG00000069712ENST00000409154p.C682Cc.2046C>TSubstitution - coding silent
ENST00000263187_v70p.G770Sc.2308G>ASubstitution - Missense
YIPF1ENSG00000058799ENST00000539954p.R281Rc.843C>TSubstitution - coding silent
MACF1ENSG00000127603ENST00000317713p.?c.10702+1G>AUnknown
TRIM5ENSG00000132256ENST00000305836p.T346Ic.1037C>TSubstitution - Missense
SETENSG00000119335ENST00000372688p.?c.776_778-3del598Unknown
BAI3ENSG00000135298ENST00000238918p.*729fs?c.2186delADeletion - Frameshift
CLASP1ENSG00000074054ENST00000455322p.S1188fs*1c.3553_3554insGInsertion - Frameshift
CLASP1ENSG00000074054ENST00000541859p.S949fs*1c.2836_2837insGInsertion - Frameshift
ENST00000367531p.L619fs*3c.1853_1854insAInsertion - Frameshift
USH2AENSG00000042781ENST00000366943p.G3065fs*18c.9194_9198delGAATGDeletion - Frameshift
NFXL1ENSG00000170448ENST00000329043p.M639Ic.1917G>ASubstitution - Missense
CPNE9ENSG00000144550ENST00000383831p.?c.651-3C>TUnknown
PEX5LENSG00000114757ENST00000263962p.L533Pc.1598T>CSubstitution - Missense
ENST00000421660p.?c.3325+1G>AUnknown
VPS8ENSG00000156931ENST00000287546p.P333Sc.997C>TSubstitution - Missense
VPS8ENSG00000156931ENST00000287546p.?c.2715-4C>TUnknown
ENST00000332468p.?c.97-8T>AUnknown
DHX36ENSG00000174953ENST00000544526p.G32Sc.94G>ASubstitution - Missense
PARP14ENSG00000173193ENST00000494811p.G25Gc.75C>TSubstitution - coding silent
HSPBAP1ENSG00000169087ENST00000383659p.?c.251-1G>AUnknown
DTNBENSG00000138101ENST00000288642p.D366Nc.1096G>ASubstitution - Missense
ENST00000264718_v70p.N68Nc.204C>TSubstitution - coding silent
KIF1AENSG00000130294ENST00000498729p.?c.184-9G>AUnknown
ANO7ENSG00000146205ENST00000402530p.?c.270+3A>GUnknown
ABCA12ENSG00000144452ENST00000389661p.?c.3786+5G>AUnknown
ENST00000263817_v70p.H1275Yc.3823C>TSubstitution - Missense
RAPGEF4ENSG00000091428ENST00000264111p.T731Tc.2193G>ASubstitution - coding silent
CLASP1ENSG00000074054ENST00000541859p.P216Sc.646C>TSubstitution - Missense
CLASP1ENSG00000074054ENST00000545861p.P215Sc.643C>TSubstitution - Missense
ARHGEF4ENSG00000136002ENST00000355771p.Y327Yc.981C>TSubstitution - coding silent
PARVBENSG00000188677ENST00000338758p.?c.946-8C>TUnknown
MEI1ENSG00000167077ENST00000540880p.G47Sc.139G>ASubstitution - Missense
MTMR3ENSG00000100330ENST00000333027p.G657Ec.1970G>ASubstitution - Missense
PLCB1ENSG00000182621ENST00000404098p.I40Fc.118A>TSubstitution - Missense
ZNF483ENSG00000173258ENST00000374374p.G106Ec.317G>ASubstitution - Missense
PLECENSG00000178209ENST00000354589p.E2512Kc.7534G>ASubstitution - Missense
PLECENSG00000178209ENST00000356346p.E2498Kc.7492G>ASubstitution - Missense
PLECENSG00000178209ENST00000354589p.A1278Tc.3832G>ASubstitution - Missense
PLECENSG00000178209ENST00000356346p.A1264Tc.3790G>ASubstitution - Missense
EEF1DENSG00000104529ENST00000423316p.D67Dc.201C>TSubstitution - coding silent
EPPK1ENSG00000227184ENST00000525985p.G296Sc.886G>ASubstitution - Missense
LRRD1ENSG00000240720ENST00000454089p.L103Qc.308T>ASubstitution - Missense
CYP3A43ENSG00000021461ENST00000342499p.L55Fc.163C>TSubstitution - Missense
MAGI2ENSG00000187391ENST00000535697p.G462Ec.1385G>ASubstitution - Missense
COBLENSG00000106078ENST00000395542p.T991Ic.2972C>TSubstitution - Missense
PLEKHA8ENSG00000106086ENST00000396259p.?c.1301-1G>TUnknown
ABCF2ENSG00000033050ENST00000222388p.D228Dc.684C>TSubstitution - coding silent
UBN2ENSG00000157741ENST00000473989p.P1243Sc.3727C>TSubstitution - Missense
AOC1ENSG00000002726ENST00000416793p.P636Lc.1907C>TSubstitution - Missense
SLC29A1ENSG00000112759ENST00000313248p.V389Vc.1167G>ASubstitution - coding silent
ENST00000435812p.?c.192-9C>TUnknown
USP49ENSG00000164663ENST00000394253p.A13Vc.38C>TSubstitution - Missense
KIF6ENSG00000164627ENST00000538893p.?c.1914+2T>AUnknown
KIF6ENSG00000164627ENST00000541946p.?c.435+2T>AUnknown
ATAT1ENSG00000137343ENST00000329992p.I79Vc.235A>GSubstitution - Missense
LY6G6EENSG00000255552ENST00000383418p.S4Cc.11C>GSubstitution - Missense
TRIM39ENSG00000204599ENST00000540416p.?c.920-7C>TUnknown
SYNE1ENSG00000131018ENST00000341594p.?c.21856-3T>CUnknown
MICAL1ENSG00000135596ENST00000368952p.W77*c.231G>ASubstitution - Nonsense
ERBB2IPENSG00000112851ENST00000284037p.A916Vc.2747C>TSubstitution - Missense
ENST00000334716p.W132*c.396G>ASubstitution - Nonsense
GPBP1ENSG00000062194ENST00000538707p.T88Sc.262A>TSubstitution - Missense
RUFY1ENSG00000176783ENST00000377001p.V180Vc.540G>ASubstitution - coding silent
JAKMIP2ENSG00000176049ENST00000507386p.R142Qc.425G>ASubstitution - Missense
CDKL3ENSG00000006837ENST00000521118p.Q384Ec.1150C>GSubstitution - Missense
CDKL3ENSG00000006837ENST00000521118p.S134Sc.402C>ASubstitution - coding silent
FBXL17ENSG00000145743ENST00000496714p.T233Tc.699A>TSubstitution - coding silent
LPHN3ENSG00000150471ENST00000507625p.N160Nc.480T>CSubstitution - coding silent
KDM1AENSG00000004487ENST00000542151p.W555Cc.1665G>TSubstitution - Missense
ECHDC2ENSG00000121310ENST00000541281p.V43Mc.127G>ASubstitution - Missense
RAD51BENSG00000182185ENST00000471583p.T299Ic.896C>TSubstitution - Missense
CTR9ENSG00000198730ENST00000361367p.L524Lc.1572A>GSubstitution - coding silent
LTBP2ENSG00000119681ENST00000261978p.?c.4454-1G>AUnknown
NOS1ENSG00000089250ENST00000317775p.K789Mc.2366A>TSubstitution - Missense
PRB1ENSG00000251655ENST00000500254p.N35Kc.105T>GSubstitution - Missense
IQCDENSG00000166578ENST00000299732p.E117Ec.351G>ASubstitution - coding silent
SDSENSG00000135094ENST00000257549p.?c.425+6T>AUnknown
ENST00000409706p.V92Ic.274G>ASubstitution - Missense
LHX5ENSG00000089116ENST00000261731p.H4Yc.10C>TSubstitution - Missense
MAP4K2ENSG00000168067ENST00000294066p.G545Gc.1635G>ASubstitution - coding silent
MAP4K2ENSG00000168067ENST00000294066p.G545Gc.1635G>ASubstitution - coding silent
TP73ENSG00000078900ENST00000378295p.L214Rc.641T>GSubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.?c.398-1G>AUnknown
ANO6ENSG00000177119ENST00000320560p.Y755Fc.2264A>TSubstitution - Missense
NR1H4ENSG00000012504ENST00000551379p.Q4Qc.12G>ASubstitution - coding silent
KIF21AENSG00000139116ENST00000395670p.T1078Ac.3232A>GSubstitution - Missense
SHANK2ENSG00000162105ENST00000338508p.A1378Vc.4133C>TSubstitution - Missense
PWWP2BENSG00000171813ENST00000305233p.S271Fc.812C>TSubstitution - Missense
HNRNPCENSG00000092199ENST00000320084p.E273Vc.818A>TSubstitution - Missense
NUMA1ENSG00000137497ENST00000393695p.R328Wc.982C>TSubstitution - Missense
CPEB1ENSG00000214575ENST00000568128p.?c.1400-5C>TUnknown
FCER1AENSG00000179639ENST00000368115p.?c.55+4A>TUnknown
TAF5LENSG00000135801ENST00000258281p.H404fs*16c.1210delCDeletion - Frameshift
MKRN3ENSG00000179455ENST00000314520p.V467Mc.1399G>ASubstitution - Missense
CEBPGENSG00000153879ENST00000284000p.G145Gc.435C>TSubstitution - coding silent
COL21A1ENSG00000124749ENST00000244728p.P827Lc.2480C>TSubstitution - Missense
SAGE1ENSG00000181433ENST00000535938p.T235Ic.704C>TSubstitution - Missense
PLXNB3ENSG00000198753ENST00000538282p.H728Hc.2184C>TSubstitution - coding silent
WWC3ENSG00000047644ENST00000380861p.R964Cc.2890C>TSubstitution - Missense
ENST00000381532_v70p.T744Ic.2231C>TSubstitution - Missense
ENST00000359598p.A124Tc.370G>ASubstitution - Missense
IZUMO3ENSG00000205442ENST00000543880p.R238Kc.713G>ASubstitution - Missense
CACNA1BENSG00000148408ENST00000277549p.A1102Ac.3306C>GSubstitution - coding silent
BNC2ENSG00000173068ENST00000380666p.G740Ec.2219G>ASubstitution - Missense
BNC2ENSG00000173068ENST00000418777p.G697Ec.2090G>ASubstitution - Missense
BNC2ENSG00000173068ENST00000411752p.G133Ec.398G>ASubstitution - Missense
RALGDSENSG00000160271ENST00000393157p.E471Kc.1411G>ASubstitution - Missense
MPDZENSG00000107186ENST00000319217p.S1839Rc.5517T>GSubstitution - Missense
ENST00000259410p.E613Kc.1837G>ASubstitution - Missense
UGT1A3ENSG00000243135ENST00000482026p.S166Lc.497C>TSubstitution - Missense
RGPD8ENSG00000169629ENST00000302558p.L16Lc.46C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.?c.23020-3T>CUnknown
ALMS1ENSG00000116127ENST00000264448p.D684Yc.2050G>TSubstitution - Missense
DUS2ENSG00000167264ENST00000358896p.?c.126+6G>AUnknown
RLTPRENSG00000159753ENST00000334583p.A207Ac.621C>TSubstitution - coding silent
PRDM9ENSG00000164256ENST00000296682p.E127Kc.379G>ASubstitution - Missense
ABCA6ENSG00000154262ENST00000590645p.K136Kc.408G>ASubstitution - coding silent
KIAA0195ENSG00000177728ENST00000314256p.R118Qc.353G>ASubstitution - Missense
ADAM2ENSG00000104755ENST00000265708p.?c.891+6G>AUnknown
CCSER1ENSG00000184305ENST00000432775p.Y673Yc.2019C>TSubstitution - coding silent
WDR1ENSG00000071127ENST00000499869p.?c.1395+7C>TUnknown
ZNF841ENSG00000197608ENST00000389534p.S834Lc.2501C>TSubstitution - Missense
CADENSG00000084774ENST00000264705p.P365Sc.1093C>TSubstitution - Missense
BRSK1ENSG00000160469ENST00000309383p.R379fs*54c.1135_1136insCInsertion - Frameshift
PLECENSG00000178209ENST00000436759p.E2539Kc.7615G>ASubstitution - Missense
HIST1H1EENSG00000168298ENST00000304218p.A199Tc.595G>ASubstitution - Missense
DTHD1ENSG00000197057ENST00000357504p.S152*c.455C>GSubstitution - Nonsense
TRPM2ENSG00000142185ENST00000397928p.I1045Tc.3134T>CSubstitution - Missense
MIDNENSG00000167470ENST00000300952p.R389Hc.1166G>ASubstitution - Missense
DOCK6ENSG00000130158ENST00000319867p.L1433Wc.4298T>GSubstitution - Missense
ENST00000398670p.?c.1710-3C>GUnknown
CPDENSG00000108582ENST00000225719p.A190Ac.570C>TSubstitution - coding silent
ENST00000354485p.L196Lc.588C>TSubstitution - coding silent
CADPS2ENSG00000081803ENST00000449022p.S311Fc.932C>TSubstitution - Missense
ZNF726ENSG00000213967ENST00000334589p.P57Lc.170C>TSubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.P984Pc.2952C>TSubstitution - coding silent
RHBDF2ENSG00000129667ENST00000313080p.?c.1998-6C>TUnknown
ENST00000344648p.F575Fc.1725C>TSubstitution - coding silent
IGFBP5ENSG00000115461ENST00000233813p.R117Hc.350G>ASubstitution - Missense
CUL4AENSG00000139842ENST00000375440p.R249Rc.747G>ASubstitution - coding silent
CYP2J2ENSG00000134716ENST00000371204p.I443Ic.1329A>CSubstitution - coding silent
PLEKHG3ENSG00000126822ENST00000247226p.R980Qc.2939G>ASubstitution - Missense
TTC6ENSG00000139865ENST00000553443p.?c.4165-7C>TUnknown
NINENSG00000100503ENST00000245441p.S27Sc.81C>TSubstitution - coding silent
ASUNENSG00000064102ENST00000261191p.P266Sc.796C>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000402845p.?c.5784-1G>TUnknown
TNNT2ENSG00000118194ENST00000458432p.M194Kc.581T>ASubstitution - Missense
CEP152ENSG00000103995ENST00000399334p.E301Kc.901G>ASubstitution - Missense
MOV10ENSG00000155363ENST00000357443p.P589Pc.1767T>CSubstitution - coding silent
POLR2BENSG00000047315ENST00000381227p.A362fs*21c.1078delADeletion - Frameshift
COL21A1ENSG00000124749ENST00000244728p.P827Lc.2480C>TSubstitution - Missense
ACTBENSG00000075624ENST00000417101p.M19Rc.56T>GSubstitution - Missense
POMT1ENSG00000130714ENST00000354713p.G670Rc.2008G>ASubstitution - Missense
ENST00000428822p.?c.192-9C>TUnknown
MED23ENSG00000112282ENST00000403834p.?c.2239-1G>TUnknown
MED24ENSG00000008838ENST00000394128p.Q680Qc.2040G>ASubstitution - coding silent
ATXN7L3ENSG00000087152ENST00000454077p.W303*c.909G>ASubstitution - Nonsense
DOCK10ENSG00000135905ENST00000409592p.M1339Vc.4015A>GSubstitution - Missense
ENSG00000268948ENST00000597520p.F31Vc.91T>GSubstitution - Missense
LPHN2ENSG00000117114ENST00000449420p.A600Ac.1800A>TSubstitution - coding silent
ANO6ENSG00000177119ENST00000441606p.Y779Nc.2335T>ASubstitution - Missense
TTC12ENSG00000149292ENST00000314756p.L386Vc.1156T>GSubstitution - Missense
SCN9AENSG00000169432ENST00000409672p.K494Kc.1482G>ASubstitution - coding silent
SETENSG00000119335ENST00000322030p.?c.809_811-3del598Unknown
NSD1ENSG00000165671ENST00000439151p.D648Dc.1944C>TSubstitution - coding silent
HLA-DQB1ENSG00000179344ENST00000399084p.K97Kc.291G>ASubstitution - coding silent
SLC4A10ENSG00000144290ENST00000415876p.R46*c.136C>TSubstitution - Nonsense
KIAA0895ENSG00000164542ENST00000297063p.L344Lc.1032C>TSubstitution - coding silent
ZNF780AENSG00000197782ENST00000455521p.G190Ec.569G>ASubstitution - Missense
SGSM1ENSG00000167037ENST00000400359p.A911Sc.2731G>TSubstitution - Missense
C7orf60ENSG00000164603ENST00000297145p.R8Rc.24A>CSubstitution - coding silent
THSD7AENSG00000005108ENST00000423059p.H220Yc.658C>TSubstitution - Missense
LCA5ENSG00000135338ENST00000392959p.A684Tc.2050G>ASubstitution - Missense
NM_133638.1p.C294Fc.881G>TSubstitution - Missense
LRBAENSG00000198589ENST00000357115p.T987Ic.2960C>TSubstitution - Missense
RIMS1ENSG00000079841ENST00000521978p.Y673Hc.2017T>CSubstitution - Missense
PRDM1ENSG00000057657ENST00000369096p.K90Kc.270G>ASubstitution - coding silent
C22orf46ENSG00000184208ENST00000402966p.K231Kc.693A>GSubstitution - coding silent
ENST00000238522p.R147Rc.441G>ASubstitution - coding silent
JAK3ENSG00000105639ENST00000458235p.L1091Lc.3271C>TSubstitution - coding silent
KCTD7ENSG00000243335ENST00000275532p.E51_V52delEVc.150_155delTGAGGTDeletion - In frame
KIAA0930ENSG00000100364ENST00000251993p.D119Dc.357C>TSubstitution - coding silent
LRRFIP1ENSG00000124831ENST00000244815p.P383Lc.1148C>TSubstitution - Missense
ARFGEF1ENSG00000066777ENST00000262215p.A77Ac.231A>TSubstitution - coding silent
DOCK7ENSG00000116641ENST00000340370p.E1601Kc.4801G>ASubstitution - Missense
SKOR1ENSG00000188779ENST00000341418p.V520Ic.1558G>ASubstitution - Missense
ZMYM5ENSG00000132950ENST00000337963p.A245Ac.735A>CSubstitution - coding silent
ZCCHC11ENSG00000134744ENST00000257177p.G1409Dc.4226G>ASubstitution - Missense
PPP4R4ENSG00000119698ENST00000304338p.?c.1429-9C>TUnknown
DENND4BENSG00000198837ENST00000361217p.R201Rc.603C>TSubstitution - coding silent
LRFN5ENSG00000165379ENST00000298119p.V583Ac.1748T>CSubstitution - Missense
SOS2ENSG00000100485ENST00000216373p.A1195Vc.3584C>TSubstitution - Missense
BCAT1ENSG00000060982ENST00000261192p.A334Ac.1002C>TSubstitution - coding silent
CTR9ENSG00000198730ENST00000361367p.R709Qc.2126G>ASubstitution - Missense
XYLT1ENSG00000103489ENST00000261381p.A329Dc.986C>ASubstitution - Missense
FANCFENSG00000183161ENST00000327470p.L277Lc.829C>TSubstitution - coding silent
MACF1ENSG00000127603ENST00000360115p.S104Sc.312C>TSubstitution - coding silent
NPRL3ENSG00000103148ENST00000399953p.P347Sc.1039C>TSubstitution - Missense
PTPRFENSG00000142949ENST00000359947p.P536fs*24c.1603delCDeletion - Frameshift
RORCENSG00000143365ENST00000392697p.Q329Qc.987G>ASubstitution - coding silent
C11orf84ENSG00000168005ENST00000294244p.A203Ac.609T>ASubstitution - coding silent
ENST00000368089_v71p.A292Tc.874G>ASubstitution - Missense
CLEC1AENSG00000150048ENST00000315330p.A131Ac.393A>GSubstitution - coding silent
PPRC1ENSG00000148840ENST00000278070p.P1000Sc.2998C>TSubstitution - Missense
C12orf4ENSG00000047621ENST00000261250p.L519Ic.1555C>ASubstitution - Missense
COX20ENSG00000203667ENST00000411948p.H48Yc.142C>TSubstitution - Missense
LOXL4ENSG00000138131ENST00000260702p.?c.701+3G>AUnknown
TEX30ENSG00000151287ENST00000376021p.S152Fc.455C>TSubstitution - Missense
INF2ENSG00000203485ENST00000392634p.P609Lc.1826C>TSubstitution - Missense
FRMD4AENSG00000151474ENST00000357447p.T874Tc.2622G>ASubstitution - coding silent
SHANK2ENSG00000162105ENST00000294018p.Y18Yc.54C>TSubstitution - coding silent
SCN8AENSG00000196876ENST00000354534p.P1303Sc.3907C>TSubstitution - Missense
METTL7AENSG00000185432ENST00000332160p.V141Mc.421G>ASubstitution - Missense
ARHGEF25ENSG00000240771ENST00000333972p.E168Kc.502G>ASubstitution - Missense
MICAL2ENSG00000133816ENST00000256194p.P781Lc.2342C>TSubstitution - Missense
SMUG1ENSG00000123415ENST00000337581p.V232Vc.696C>TSubstitution - coding silent
ITPKBENSG00000143772ENST00000429204p.D737Nc.2209G>ASubstitution - Missense
DOCK9ENSG00000088387ENST00000376460p.?c.4062-10C>TUnknown
RASAL1ENSG00000111344ENST00000261729p.N344Tc.1031A>CSubstitution - Missense
RFX4ENSG00000111783ENST00000229387p.?c.652+7A>TUnknown
OR4A5ENSG00000221840ENST00000319760p.G201Vc.602G>TSubstitution - Missense
NUP210ENSG00000132182ENST00000254508p.?c.2521+5G>AUnknown
MEIS3ENSG00000105419ENST00000561293p.P306Pc.918C>TSubstitution - coding silent
TNFRSF12AENSG00000006327ENST00000326577p.P74Rc.221C>GSubstitution - Missense
UGP2ENSG00000169764ENST00000337130p.V111Mc.331G>ASubstitution - Missense
TIA1ENSG00000116001ENST00000433529p.A351Tc.1051G>ASubstitution - Missense
PIGAENSG00000165195ENST00000333590p.V381Ac.1142T>CSubstitution - Missense
NM_173495.1p.D3Nc.7G>ASubstitution - Missense
TNFAIP3ENSG00000118503ENST00000237289p.V571Vc.1713C>TSubstitution - coding silent
LRRTM4ENSG00000176204ENST00000409088p.Q364Hc.1092G>CSubstitution - Missense
ENST00000356731_v68p.R294Wc.880C>TSubstitution - Missense
SCN10AENSG00000185313ENST00000449082p.G1698Gc.5094C>TSubstitution - coding silent
ZNF583ENSG00000198440ENST00000291598p.K201Ec.601A>GSubstitution - Missense
CRYBG3ENSG00000080200ENST00000182096p.L100Fc.298C>TSubstitution - Missense
SLC6A11ENSG00000132164ENST00000254488p.I97fs*20c.288_289insTInsertion - Frameshift
TMEM237ENSG00000155755ENST00000409883p.L89Lc.267A>GSubstitution - coding silent
ALS2ENSG00000003393ENST00000264276p.E10Ec.30G>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.A11217Tc.33649G>ASubstitution - Missense
DYMENSG00000141627ENST00000269445p.V603Ic.1807G>ASubstitution - Missense
STAU2ENSG00000040341ENST00000524300p.D201Dc.603C>TSubstitution - coding silent
ST8SIA5ENSG00000101638ENST00000315087p.R295Hc.884G>ASubstitution - Missense
DOCK3ENSG00000088538ENST00000266037p.?c.3194+10A>GUnknown
GRM7ENSG00000196277ENST00000389335p.W915*c.2745G>ASubstitution - Nonsense
GALNT1ENSG00000141429ENST00000269195p.?c.1533+5G>AUnknown
KSR1ENSG00000141068ENST00000319524p.Q768*c.2302C>TSubstitution - Nonsense
APPBP2ENSG00000062725ENST00000083182p.S95Lc.284C>TSubstitution - Missense
DHRS13ENSG00000167536ENST00000378895p.Q214*c.640C>TSubstitution - Nonsense
TPD52L3ENSG00000170777ENST00000344545p.S130Sc.390C>TSubstitution - coding silent
FRMPD1ENSG00000070601ENST00000377765p.T575Tc.1725C>ASubstitution - coding silent
ZFP64ENSG00000020256ENST00000361387p.H249Hc.747C>TSubstitution - coding silent
BPIFB3ENSG00000186190ENST00000375494p.D303Vc.908A>TSubstitution - Missense
AMHENSG00000104899ENST00000221496p.Q514*c.1540C>TSubstitution - Nonsense
CT47B1ENSG00000236446ENST00000371311p.E50_V54delEVVGVc.149_163del15Deletion - In frame
ENST00000262211p.?c.181-1G>AUnknown
INSRENSG00000171105ENST00000302850p.D1251Nc.3751G>ASubstitution - Missense
USHBP1ENSG00000130307ENST00000252597p.L517Lc.1551C>TSubstitution - coding silent
TRMT10AENSG00000145331ENST00000394876p.R243Qc.728G>ASubstitution - Missense
PHOX2BENSG00000109132ENST00000226382p.F105Fc.315C>TSubstitution - coding silent
TBX5ENSG00000089225ENST00000310346p.R375Wc.1123C>TSubstitution - Missense
ENST00000314720_v70p.Q321Qc.963G>ASubstitution - coding silent
GABRR2ENSG00000111886ENST00000402938p.V349Gc.1046T>GSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.V990Dc.2969T>ASubstitution - Missense
CLASP1ENSG00000074054ENST00000397587p.P447Sc.1339C>TSubstitution - Missense
KANSL3ENSG00000114982ENST00000440133p.?c.469-2A>GUnknown
KANSL3ENSG00000114982ENST00000440133p.?c.396+1G>AUnknown
TTC6ENSG00000139865ENST00000382320p.?c.307-7C>TUnknown
COX20ENSG00000203667ENST00000366528p.P40Lc.119C>TSubstitution - Missense
MAPKAP1ENSG00000119487ENST00000350766p.P393Lc.1178C>TSubstitution - Missense
FAM102AENSG00000167106ENST00000373095p.?c.146+3A>GUnknown
EIF4G1ENSG00000114867ENST00000319274p.P1039Lc.3116C>TSubstitution - Missense
NM_006622p.L310Fc.930A>TSubstitution - Missense
LY6G6EENSG00000255552ENST00000409239p.S29Cc.86C>GSubstitution - Missense
PDE4DENSG00000113448ENST00000502484p.R44delRc.129_131delTCGDeletion - In frame
SPTAN1ENSG00000197694ENST00000372739p.E2412Dc.7236G>TSubstitution - Missense
SEMG1ENSG00000124233ENST00000372781p.E362fs*14c.1082_1083delGADeletion - Frameshift
HUS1ENSG00000136273ENST00000436444p.I128Tc.383T>CSubstitution - Missense
RARRES2ENSG00000106538ENST00000223271p.F47Fc.141C>TSubstitution - coding silent
WDR90ENSG00000161996ENST00000293879p.V49Vc.147C>TSubstitution - coding silent
KMT2CENSG00000055609ENST00000355193p.?c.11842-7C>TUnknown
KIRREL2ENSG00000126259ENST00000360202p.I466Ic.1398C>ASubstitution - coding silent
PEX5LENSG00000114757ENST00000467460p.L535Lc.1605G>TSubstitution - coding silent
CACNA1GENSG00000006283ENST00000359106p.P1261Hc.3782C>ASubstitution - Missense
CCR10ENSG00000184451ENST00000332438p.?c.24+4G>AUnknown
GCATENSG00000100116ENST00000248924p.F70Fc.210C>TSubstitution - coding silent
NM_002439.1p.V295Mc.883G>ASubstitution - Missense
ANKRD32ENSG00000133302ENST00000265140p.D648Nc.1942G>ASubstitution - Missense
ITPR1ENSG00000150995ENST00000357086p.G2650Ec.7949G>ASubstitution - Missense
NBEAL2ENSG00000160796ENST00000450053p.G893Dc.2678G>ASubstitution - Missense
IQGAP2ENSG00000145703ENST00000274364p.S621Sc.1863C>TSubstitution - coding silent
DMGDHENSG00000132837ENST00000255189p.G598Ec.1793G>ASubstitution - Missense
ZNF197ENSG00000186448ENST00000344387p.E229Kc.685G>ASubstitution - Missense
APOOLENSG00000155008ENST00000373173p.D247Dc.741C>TSubstitution - coding silent
FOCADENSG00000188352ENST00000380249p.R1072Rc.3216G>ASubstitution - coding silent
VPS13CENSG00000129003ENST00000395896p.M1866Vc.5596A>GSubstitution - Missense
FUT8ENSG00000033170ENST00000360689p.Q89*c.265C>TSubstitution - Nonsense
KRTCAP2ENSG00000163463ENST00000295682p.G30Sc.88G>ASubstitution - Missense
GON4LENSG00000116580ENST00000437809p.K1412Mc.4235A>TSubstitution - Missense
SLC26A9ENSG00000174502ENST00000367134p.K403Kc.1209A>GSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369354p.R2329Mc.6986G>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313382p.R2223Mc.6668G>TSubstitution - Missense
FAM63BENSG00000128923ENST00000559228p.P78Lc.233C>TSubstitution - Missense
COLGALT2ENSG00000198756ENST00000361927p.P395Hc.1184C>ASubstitution - Missense
NM_002837.2p.S908Gc.2722A>GSubstitution - Missense
KIAA1549LENSG00000110427ENST00000265654p.A918Vc.2753C>TSubstitution - Missense
KIAA1377ENSG00000110318ENST00000263468p.S290Lc.869C>TSubstitution - Missense
IGSF3ENSG00000143061ENST00000369486p.N492Dc.1474A>GSubstitution - Missense
GCN1L1ENSG00000089154ENST00000300648p.G1768Ec.5303G>ASubstitution - Missense
SLC22A15ENSG00000163393ENST00000369503p.R365Rc.1095G>ASubstitution - coding silent
NOS1ENSG00000089250ENST00000317775p.W592Rc.1774T>ASubstitution - Missense
CTSKENSG00000143387ENST00000443913p.G238Rc.712G>ASubstitution - Missense
CNGA4ENSG00000132259ENST00000379936p.G468*c.1402G>TSubstitution - Nonsense
DNHD1ENSG00000179532ENST00000254579p.D4502Nc.13504G>ASubstitution - Missense
CCDC88BENSG00000168071ENST00000356786p.E873*c.2617G>TSubstitution - Nonsense
NM_015401.1p.Y589Yc.1767C>TSubstitution - coding silent
ADD3ENSG00000148700ENST00000356080p.I165Kc.494T>ASubstitution - Missense
TTC40ENSG00000171811ENST00000263170p.?c.1671+8G>TUnknown
ARID4BENSG00000054267ENST00000264183p.?c.1065+6T>CUnknown
EP400ENSG00000183495ENST00000389561p.?c.9021+1G>AUnknown
ENST00000349637p.P3275Lc.9824C>TSubstitution - Missense
KRT78ENSG00000170423ENST00000304620p.?c.1304-2A>CUnknown
TEAD2ENSG00000074219ENST00000311227p.H388Yc.1162C>TSubstitution - Missense
NEK2ENSG00000117650ENST00000366999p.S387Nc.1160G>ASubstitution - Missense
ESDENSG00000139684ENST00000378720p.?c.601-10C>TUnknown
ENST00000357329p.?c.4065-10C>TUnknown
VPS29ENSG00000111237ENST00000549578p.G169Rc.505G>ASubstitution - Missense
RBP7ENSG00000162444ENST00000294435p.V87Ic.259G>ASubstitution - Missense
GLIS1ENSG00000174332ENST00000312233p.S406Fc.1217C>TSubstitution - Missense
ZNF483ENSG00000173258ENST00000309235p.G106Ec.317G>ASubstitution - Missense
XPO6ENSG00000169180ENST00000304658p.A1064Ac.3192C>TSubstitution - coding silent
TUBA3DENSG00000075886ENST00000321253p.V362Vc.1086G>TSubstitution - coding silent
ENST00000427965p.?c.774+10T>CUnknown
ALKBH4ENSG00000160993ENST00000292566p.?c.321+1G>AUnknown
FUT2ENSG00000176920ENST00000425340p.R201Cc.601C>TSubstitution - Missense
KIF6ENSG00000164627ENST00000287152p.?c.2082+2T>AUnknown
IRS1ENSG00000169047ENST00000305123p.G133Ec.398G>ASubstitution - Missense
EPHA4ENSG00000116106ENST00000281821p.F600Ic.1798T>ASubstitution - Missense
PRDM9ENSG00000164256ENST00000296682p.H766Hc.2298C>TSubstitution - coding silent
ALPK1ENSG00000073331ENST00000458497p.T999fs*5c.2994_2995insTInsertion - Frameshift
CDH5ENSG00000179776ENST00000341529p.A591Ac.1773C>TSubstitution - coding silent
DMP1ENSG00000152592ENST00000339673p.S163Nc.488G>ASubstitution - Missense
TEX15ENSG00000133863ENST00000256246p.D502Nc.1504G>ASubstitution - Missense
GPR124ENSG00000020181ENST00000412232p.N612Nc.1836C>TSubstitution - coding silent
C4orf17ENSG00000138813ENST00000326581p.S85fs*10c.249delCDeletion - Frameshift
ENST00000400001p.?c.1398+7C>TUnknown
PLA2G3ENSG00000100078ENST00000215885p.P154Lc.461C>TSubstitution - Missense
ZAP70ENSG00000115085ENST00000264972p.?c.563+2T>AUnknown
METTL8ENSG00000123600ENST00000375258p.V65fs*1c.192delADeletion - Frameshift
TTNENSG00000155657ENST00000342175p.G19413Ec.58238G>ASubstitution - Missense
TXNRD2ENSG00000184470ENST00000334363p.V87Ic.259G>ASubstitution - Missense
SLC39A4ENSG00000147804ENST00000301305p.G234Sc.700G>ASubstitution - Missense
DSCR3ENSG00000157538ENST00000309117p.V209Vc.627G>ASubstitution - coding silent
PPLENSG00000118898ENST00000345988p.T1134Ic.3401C>TSubstitution - Missense
C16orf78ENSG00000166152ENST00000299191p.R26Rc.78G>ASubstitution - coding silent
TBCDENSG00000141556ENST00000355528p.D219Dc.657T>CSubstitution - coding silent
MYO18AENSG00000196535ENST00000527372p.?c.3087+1G>AUnknown
XPAENSG00000136936ENST00000375128p.K217Kc.651G>ASubstitution - coding silent
BPTFENSG00000171634ENST00000335221p.R2045*c.6133C>TSubstitution - Nonsense
TANC2ENSG00000170921ENST00000389520p.Y878Yc.2634C>TSubstitution - coding silent
SLC26A7ENSG00000147606ENST00000276609p.T107Tc.321A>CSubstitution - coding silent
SMURF2ENSG00000108854ENST00000262435p.K734Nc.2202G>TSubstitution - Missense
KIAA1432ENSG00000107036ENST00000381532p.T1101Tc.3303C>TSubstitution - coding silent
LBPENSG00000129988ENST00000217407p.N434Nc.1302C>TSubstitution - coding silent
C20orf24ENSG00000101084ENST00000344795p.?c.219-9T>CUnknown
TRIM65ENSG00000141569ENST00000269383p.?c.510+9C>AUnknown
SMCR8ENSG00000176994ENST00000406438p.M462Vc.1384A>GSubstitution - Missense
ANGPTL4ENSG00000167772ENST00000301455p.G313Sc.937G>ASubstitution - Missense
ABCA12ENSG00000144452ENST00000272895p.?c.4740+5G>AUnknown
MSH4ENSG00000057468ENST00000263187p.G770Sc.2308G>ASubstitution - Missense
PER3ENSG00000049246ENST00000361923p.T890fs*50c.2666_2667insCInsertion - Frameshift
FESENSG00000182511ENST00000328850p.R246Qc.737G>ASubstitution - Missense
COL4A5ENSG00000188153ENST00000328300p.P1332Lc.3995C>TSubstitution - Missense
SETXENSG00000107290ENST00000372169p.D661Nc.1981G>ASubstitution - Missense
UNC13BENSG00000198722ENST00000396787p.K1298Kc.3894G>ASubstitution - coding silent
ELF2ENSG00000109381ENST00000358635p.Q492Kc.1474C>ASubstitution - Missense
LPHN2ENSG00000117114ENST00000370721p.T658Sc.1972A>TSubstitution - Missense
TRAF3IP3ENSG00000009790ENST00000367024p.S90Fc.269C>TSubstitution - Missense
TNKS1BP1ENSG00000149115ENST00000358252p.G1010Ec.3029G>ASubstitution - Missense
TRIM5ENSG00000132256ENST00000380034p.T346Ic.1037C>TSubstitution - Missense
FER1L6ENSG00000214814ENST00000399018p.W999*c.2997G>ASubstitution - Nonsense
SCAIENSG00000173611ENST00000373549p.?c.98+6G>AUnknown
SPTAN1ENSG00000197694ENST00000372739p.L307Lc.919C>TSubstitution - coding silent
ENST00000329144p.G40Gc.120G>ASubstitution - coding silent
GRM4ENSG00000124493ENST00000374181p.I677Ic.2031C>ASubstitution - coding silent
ITGB8ENSG00000105855ENST00000222573p.V301Ac.902T>CSubstitution - Missense
SCN2AENSG00000136531ENST00000375437p.T1250Ic.3749C>TSubstitution - Missense
ZFP36ENSG00000128016ENST00000248673p.P20Sc.58C>TSubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.T364Ac.1090A>GSubstitution - Missense
AFF2ENSG00000155966ENST00000286437p.P200Lc.599C>TSubstitution - Missense
SPDYE1ENSG00000136206ENST00000258704p.?c.61_278del1523Unknown
MAMLD1ENSG00000013619ENST00000432680p.A361Ac.1083C>TSubstitution - coding silent
ENSG00000260537ENST00000567706p.P190fs*3c.567delCDeletion - Frameshift
WWP2ENSG00000198373ENST00000359154p.W711*c.2133G>ASubstitution - Nonsense
ADCY1ENSG00000164742ENST00000297323p.L975Lc.2925C>TSubstitution - coding silent
ENST00000576222_v68p.A757Ac.2271C>TSubstitution - coding silent
WDR62ENSG00000075702ENST00000270301p.G1230Sc.3688G>ASubstitution - Missense
RALGDSENSG00000160271ENST00000542690p.E543Kc.1627G>ASubstitution - Missense
AFF4ENSG00000072364ENST00000265343p.R935Kc.2804G>ASubstitution - Missense
REV3LENSG00000009413ENST00000358835p.E1593fs*9c.4777delGDeletion - Frameshift
ENC1ENSG00000171617ENST00000302351p.A317Vc.950C>TSubstitution - Missense
SLC25A42ENSG00000181035ENST00000318596p.?c.188-4C>TUnknown
C5orf42ENSG00000197603ENST00000425232p.G916Gc.2748T>CSubstitution - coding silent
CHSY1ENSG00000131873ENST00000254190p.Y143Yc.429C>TSubstitution - coding silent
KIAA0586ENSG00000100578ENST00000261244p.L1455Lc.4363C>TSubstitution - coding silent
TC2NENSG00000165929ENST00000340892p.V150Mc.448G>ASubstitution - Missense
SPG11ENSG00000104133ENST00000261866p.L1301Pc.3902T>CSubstitution - Missense
NM_004330.1p.M287Tc.860T>CSubstitution - Missense
SBNO1ENSG00000139697ENST00000267176p.V260Lc.778G>CSubstitution - Missense
CLSTN3ENSG00000139182ENST00000266546p.G564Gc.1692C>TSubstitution - coding silent
PAPPA2ENSG00000116183ENST00000367662p.W837Cc.2511G>TSubstitution - Missense
XPR1ENSG00000143324ENST00000367590p.F416Fc.1248C>TSubstitution - coding silent
HMCN1ENSG00000143341ENST00000271588p.T1255Ac.3763A>GSubstitution - Missense
LRIG2ENSG00000198799ENST00000361127p.R916Rc.2748A>GSubstitution - coding silent
HIVEP3ENSG00000127124ENST00000372583p.T2247Ic.6740C>TSubstitution - Missense
CTSKENSG00000143387ENST00000271651p.G179Rc.535G>ASubstitution - Missense
FCGR3AENSG00000203747ENST00000367969p.Y71Hc.211T>CSubstitution - Missense
NM_004667.3p.G522Ec.1565G>ASubstitution - Missense
WEE1ENSG00000166483ENST00000450114p.L302Ic.904C>ASubstitution - Missense
RPS6KB2ENSG00000175634ENST00000312629p.P268Lc.803C>TSubstitution - Missense
VWCEENSG00000167992ENST00000335613p.D510Dc.1530C>TSubstitution - coding silent
BTG1ENSG00000133639ENST00000256015p.?c.148+3G>AUnknown
ANKS1BENSG00000185046ENST00000547776p.V572Lc.1714G>CSubstitution - Missense
FAM154BENSG00000188659ENST00000339465p.S95Nc.284G>ASubstitution - Missense
PTPREENSG00000132334ENST00000254667p.L120Lc.358C>TSubstitution - coding silent
ZBTB39ENSG00000166860ENST00000300101p.H639Dc.1915C>GSubstitution - Missense
H1FNTENSG00000187166ENST00000335017p.Y88Yc.264C>TSubstitution - coding silent
KIF5AENSG00000155980ENST00000455537p.A312Tc.934G>ASubstitution - Missense
MON2ENSG00000061987ENST00000393632p.I190Vc.568A>GSubstitution - Missense
USH2AENSG00000042781ENST00000307340p.G2317Dc.6950G>ASubstitution - Missense
RBM26ENSG00000139746ENST00000267229p.V804Ic.2410G>ASubstitution - Missense
ANKRD13AENSG00000076513ENST00000261739p.R345Mc.1034G>TSubstitution - Missense
RGPD8ENSG00000169629ENST00000302558p.L16Lc.46C>TSubstitution - coding silent
ENST00000381114p.F1733Vc.5197T>GSubstitution - Missense
KIAA1324LENSG00000164659ENST00000450689p.I828Vc.2482A>GSubstitution - Missense
TET3ENSG00000187605ENST00000409262p.H508Yc.1522C>TSubstitution - Missense
SPON2ENSG00000159674ENST00000290902p.A41Ac.123C>ASubstitution - coding silent
CREG2ENSG00000175874ENST00000324768p.P171Lc.512C>TSubstitution - Missense
KIF19ENSG00000196169ENST00000389916p.S188Fc.563C>TSubstitution - Missense
FOXP3ENSG00000049768ENST00000376207p.N388Nc.1164C>TSubstitution - coding silent
ZNF584ENSG00000171574ENST00000306910p.V36Ac.107T>CSubstitution - Missense
ZNF415ENSG00000170954ENST00000243643p.L259Rc.776T>GSubstitution - Missense
NLRP12ENSG00000142405ENST00000324134p.R795Rc.2385G>ASubstitution - coding silent
TMEM214ENSG00000119777ENST00000238788p.V491Ic.1471G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.A5016Tc.15046G>ASubstitution - Missense
PARP10ENSG00000178685ENST00000313028p.P211Lc.632C>TSubstitution - Missense
ATP5A1ENSG00000152234ENST00000398752p.G104Dc.311G>ASubstitution - Missense
EEF1DENSG00000104529ENST00000442189p.D67Dc.201C>TSubstitution - coding silent
MGAMENSG00000257335ENST00000549489p.V236Ic.706G>ASubstitution - Missense
HIST1H3GENSG00000256018ENST00000305910p.L127Vc.379C>GSubstitution - Missense
TBC1D1ENSG00000065882ENST00000261439p.E403Qc.1207G>CSubstitution - Missense
URB1ENSG00000142207ENST00000382751p.A628Vc.1883C>TSubstitution - Missense
CNTN3ENSG00000113805ENST00000263665p.S767Rc.2301C>ASubstitution - Missense
MOCOSENSG00000075643ENST00000261326p.R835Rc.2505T>GSubstitution - coding silent
SUCLG2ENSG00000172340ENST00000307227p.Q41Pc.122A>CSubstitution - Missense
KANK1ENSG00000107104ENST00000382303p.A962Tc.2884G>ASubstitution - Missense
ANKRD18BENSG00000230453ENST00000290943p.D65Vc.194A>TSubstitution - Missense
COL4A5ENSG00000188153ENST00000361603p.P1326Lc.3977C>TSubstitution - Missense
ARHGEF18ENSG00000104880ENST00000319670p.P599Pc.1797C>TSubstitution - coding silent
ENST00000278816p.E418Kc.1252G>ASubstitution - Missense
DLX3ENSG00000064195ENST00000434704p.H48Hc.144C>TSubstitution - coding silent
TMEM92ENSG00000167105ENST00000300433p.G29Dc.86G>ASubstitution - Missense
THEMIS2ENSG00000130775ENST00000373921p.P552fs*5c.1645_1646insCInsertion - Frameshift
CLSTN1ENSG00000171603ENST00000377298p.E48Ec.144G>ASubstitution - coding silent
CLASP1ENSG00000074054ENST00000397587p.S1172fs*1c.3505_3506insGInsertion - Frameshift
CLASP1ENSG00000074054ENST00000545861p.S939fs*1c.2806_2807insGInsertion - Frameshift
GRM7ENSG00000196277ENST00000357716p.T463Sc.1388C>GSubstitution - Missense
SGIP1ENSG00000118473ENST00000237247p.R30Kc.89G>ASubstitution - Missense
RALGAPA1ENSG00000174373ENST00000258840p.V936Mc.2806G>ASubstitution - Missense
ENST00000458043_v65p.C921Sc.2761T>ASubstitution - Missense
FCRL3ENSG00000160856ENST00000368186p.I668Ic.2004C>TSubstitution - coding silent
EP400ENSG00000183495ENST00000333577p.?c.9129+1G>AUnknown
CDK5RAP2ENSG00000136861ENST00000349780p.G1187Dc.3560G>ASubstitution - Missense
MAPKAP1ENSG00000119487ENST00000265960p.P429Lc.1286C>TSubstitution - Missense
KIAA0196ENSG00000164961ENST00000318410p.P631Tc.1891C>ASubstitution - Missense
RGS14ENSG00000169220ENST00000408923p.Q228*c.682C>TSubstitution - Nonsense
DAZAP1ENSG00000071626ENST00000336761p.A340Ac.1020T>CSubstitution - coding silent
CUL9ENSG00000112659ENST00000252050p.D1656Nc.4966G>ASubstitution - Missense
DCAF15ENSG00000132017ENST00000254337p.E480Ec.1440G>ASubstitution - coding silent
ARHGAP17ENSG00000140750ENST00000289968p.H745Hc.2235T>CSubstitution - coding silent
ZSWIM3ENSG00000132801ENST00000255152p.G672Dc.2015G>ASubstitution - Missense
TANC1ENSG00000115183ENST00000263635p.T164Ac.490A>GSubstitution - Missense
PLD3ENSG00000105223ENST00000359274p.R413Kc.1238G>ASubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.Q250Ec.748C>GSubstitution - Missense
KIAA0895ENSG00000164542ENST00000338533p.L331Lc.993C>TSubstitution - coding silent
TRIM39ENSG00000204599ENST00000376656p.?c.1010-7C>TUnknown
DPYSENSG00000147647ENST00000351513p.W138*c.414G>ASubstitution - Nonsense
MYBENSG00000118513ENST00000341911p.E567fs*6c.1697_1698insAInsertion - Frameshift
ASIC2ENSG00000108684ENST00000359872p.S198Lc.593C>TSubstitution - Missense
GIMAP2ENSG00000106560ENST00000223293p.V273Ac.818T>CSubstitution - Missense
ACACAENSG00000132142ENST00000360679p.E459Vc.1376A>TSubstitution - Missense
SMG8ENSG00000167447ENST00000300917p.?c.2779-8T>CUnknown
INPP5EENSG00000148384ENST00000371712p.G607Dc.1820G>ASubstitution - Missense
CSNK1A1ENSG00000113712ENST00000377843p.G159Dc.476G>ASubstitution - Missense
SETXENSG00000107290ENST00000224140p.D661Nc.1981G>ASubstitution - Missense
SURF6ENSG00000148296ENST00000372022p.K269Kc.807G>ASubstitution - coding silent
TTF1ENSG00000125482ENST00000334270p.K440Kc.1320G>ASubstitution - coding silent
VAV2ENSG00000160293ENST00000406606p.D140Gc.419A>GSubstitution - Missense
FKBP15ENSG00000119321ENST00000238256p.E935Kc.2803G>ASubstitution - Missense
SVEP1ENSG00000165124ENST00000401783p.T2403Ac.7207A>GSubstitution - Missense
MAP1BENSG00000131711ENST00000296755p.E170Kc.508G>ASubstitution - Missense
NM_173823.1p.L762Fc.2284C>TSubstitution - Missense
UBR2ENSG00000024048ENST00000372899p.V286Ic.856G>ASubstitution - Missense
CLASP1ENSG00000074054ENST00000263710p.P447Sc.1339C>TSubstitution - Missense
CAND2ENSG00000144712ENST00000295989p.V679Mc.2035G>ASubstitution - Missense
OSBPL11ENSG00000144909ENST00000296220p.V651Vc.1953G>TSubstitution - coding silent
PCYT1BENSG00000102230ENST00000356768p.H184Yc.550C>TSubstitution - Missense
SLC44A5ENSG00000137968ENST00000370855p.G435Gc.1305G>ASubstitution - coding silent
NM_014363.3p.I1248Fc.3742A>TSubstitution - Missense
FLRT2ENSG00000185070ENST00000330753p.G548Rc.1642G>ASubstitution - Missense
DENND4BENSG00000198837ENST00000361217p.R313Rc.939C>TSubstitution - coding silent
PRKAA2ENSG00000162409ENST00000371244p.T485Ac.1453A>GSubstitution - Missense
ASH1LENSG00000116539ENST00000392403p.I2930fs*9c.8788delADeletion - Frameshift
SHC1ENSG00000160691ENST00000444664p.R159Rc.477G>ASubstitution - coding silent
CEP152ENSG00000103995ENST00000399334p.C1335Yc.4004G>ASubstitution - Missense
CCPG1ENSG00000260916ENST00000310958p.R428Qc.1283G>ASubstitution - Missense
AREL1ENSG00000119682ENST00000356357p.L301Ic.901C>ASubstitution - Missense
GUCA2BENSG00000044012ENST00000372581p.?c.277+5G>AUnknown
FOXJ3ENSG00000198815ENST00000372573p.P334Pc.1002C>TSubstitution - coding silent
TP73ENSG00000078900ENST00000378288p.L165Rc.494T>GSubstitution - Missense
RGS4ENSG00000117152ENST00000367909p.A152Tc.454G>ASubstitution - Missense
PDZRN4ENSG00000165966ENST00000402685p.F206Fc.618C>TSubstitution - coding silent
KDM5AENSG00000073614ENST00000399788p.L898Lc.2694A>GSubstitution - coding silent
PDZD8ENSG00000165650ENST00000334464p.K359Nc.1077A>TSubstitution - Missense
CHUKENSG00000213341ENST00000370397p.E704Kc.2110G>ASubstitution - Missense
TACC2ENSG00000138162ENST00000369005p.K2128*c.6382A>TSubstitution - Nonsense
SUPT16HENSG00000092201ENST00000216297p.S261Ic.782G>TSubstitution - Missense
SHANK2ENSG00000162105ENST00000294018p.A782Vc.2345C>TSubstitution - Missense
TCIRG1ENSG00000110719ENST00000265686p.E8Ec.24G>ASubstitution - coding silent
RPS6KB2ENSG00000175634ENST00000312629p.P268Lc.803C>TSubstitution - Missense
KNDC1ENSG00000171798ENST00000304613p.T969Mc.2906C>TSubstitution - Missense
PFKPENSG00000067057ENST00000381125p.E742Ec.2226G>ASubstitution - coding silent
PARD3ENSG00000148498ENST00000374789p.G1120Rc.3358G>ASubstitution - Missense
DOCK9ENSG00000088387ENST00000339416p.?c.4065-10C>TUnknown
MORN1ENSG00000116151ENST00000378531p.C357*c.1071T>ASubstitution - Nonsense
TEKENSG00000120156ENST00000380036p.V1103Mc.3307G>ASubstitution - Missense
TBC1D9ENSG00000109436ENST00000442267p.A850Tc.2548G>ASubstitution - Missense
NIPAL1ENSG00000163293ENST00000295461p.G180Rc.538G>ASubstitution - Missense
ILVBLENSG00000105135ENST00000263383p.F69Fc.207C>TSubstitution - coding silent
POLR1BENSG00000125630ENST00000541869p.A779Tc.2335G>ASubstitution - Missense
FBXO24ENSG00000106336ENST00000427939p.G472Dc.1415G>ASubstitution - Missense
DNAJB8ENSG00000179407ENST00000469083p.P82Tc.244C>ASubstitution - Missense
TREM1ENSG00000124731ENST00000244709p.D60Nc.178G>ASubstitution - Missense
CAND2ENSG00000144712ENST00000456430p.V772Mc.2314G>ASubstitution - Missense
OSBPL11ENSG00000144909ENST00000296220p.N680fs*2c.2039delADeletion - Frameshift
ENST00000381114p.F1733Vc.5197T>GSubstitution - Missense
MIOSENSG00000164654ENST00000405785p.D139Nc.415G>ASubstitution - Missense
CNKSR2ENSG00000149970ENST00000379510p.?c.2890-3C>TUnknown
REG1BENSG00000172023ENST00000305089p.C36Sc.107G>CSubstitution - Missense
TM4SF1ENSG00000169908ENST00000305366p.G33Ec.98G>ASubstitution - Missense
ALOX12ENSG00000108839ENST00000251535p.L187Fc.559C>TSubstitution - Missense
ENST00000293813p.I689Tc.2066T>CSubstitution - Missense
ZNF544ENSG00000198131ENST00000269829p.T513Ac.1537A>GSubstitution - Missense
BRPF1ENSG00000156983ENST00000383829p.T385Ic.1154C>TSubstitution - Missense
RAB11FIP1ENSG00000156675ENST00000330843p.L1091Pc.3272T>CSubstitution - Missense
LAMA5ENSG00000130702ENST00000252999p.P3082Lc.9245C>TSubstitution - Missense
EWSR1ENSG00000182944ENST00000414183p.Q166*c.496C>TSubstitution - Nonsense
NRIP1ENSG00000180530ENST00000400199p.R85Kc.254G>ASubstitution - Missense
PLA2G3ENSG00000100078ENST00000215885p.P154Lc.461C>TSubstitution - Missense
CNOT3ENSG00000088038ENST00000221232p.A345Ac.1035C>TSubstitution - coding silent
ZNF665ENSG00000197497ENST00000396424p.C115Cc.345T>CSubstitution - coding silent
ZNF836ENSG00000196267ENST00000322146p.D448Vc.1343A>TSubstitution - Missense
PPP2R1AENSG00000105568ENST00000322088p.L67Lc.201G>ASubstitution - coding silent
SPIRE1ENSG00000134278ENST00000409402p.L245Lc.735T>GSubstitution - coding silent
PIAS2ENSG00000078043ENST00000398654p.G119Dc.356G>ASubstitution - Missense
PLECENSG00000178209ENST00000345136p.E2512Kc.7534G>ASubstitution - Missense
SLC39A4ENSG00000147804ENST00000276833p.G209Sc.625G>ASubstitution - Missense
PREX2ENSG00000046889ENST00000288368p.?c.4231+1G>AUnknown
PBRM1ENSG00000163939ENST00000296302p.E1331Ec.3993A>GSubstitution - coding silent
MST1ENSG00000173531ENST00000449682p.G622Sc.1864G>ASubstitution - Missense
GABRG1ENSG00000163285ENST00000295452p.N194Sc.581A>GSubstitution - Missense
TLCD1ENSG00000160606ENST00000292090p.L167delLc.499_501delCTCDeletion - In frame
SLC7A13ENSG00000164893ENST00000419776p.L307Fc.919C>TSubstitution - Missense
HESX1ENSG00000163666ENST00000295934p.D140Gc.419A>GSubstitution - Missense
LIM2ENSG00000105370ENST00000221973p.V155Lc.463G>CSubstitution - Missense
SRSF2ENSG00000161547ENST00000392485p.T51Ic.152C>TSubstitution - Missense
CENPIENSG00000102384ENST00000423383p.K303Kc.909G>ASubstitution - coding silent
FXR2ENSG00000129245ENST00000250113p.A661Ac.1983C>TSubstitution - coding silent
TCEAL5ENSG00000204065ENST00000372680p.P100Pc.300G>ASubstitution - coding silent
POLRMTENSG00000099821ENST00000588649p.L256Fc.766C>TSubstitution - Missense
RGAG1ENSG00000243978ENST00000465301p.D867Ac.2600A>CSubstitution - Missense
HTR2CENSG00000147246ENST00000371951p.T271Mc.812C>TSubstitution - Missense
ENST00000310210p.L120Lc.358C>TSubstitution - coding silent
CD320ENSG00000167775ENST00000301458p.V203Lc.607G>TSubstitution - Missense
C3ENSG00000125730ENST00000245907p.P292Pc.876G>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000448038p.?c.22807-3T>CUnknown
HAP1ENSG00000173805ENST00000310778p.S95Sc.285T>ASubstitution - coding silent
DNAH17ENSG00000187775ENST00000389840p.R1774Wc.5320C>TSubstitution - Missense
ABLIM3ENSG00000173210ENST00000504238p.A422Ac.1266C>TSubstitution - coding silent
MAATS1ENSG00000183833ENST00000463700p.V47Mc.139G>ASubstitution - Missense
GRM7ENSG00000196277ENST00000403881p.T463Sc.1388C>GSubstitution - Missense
TRIM23ENSG00000113595ENST00000381018p.*570*c.1709A>GSubstitution - coding silent
NNTENSG00000112992ENST00000264663p.?c.2996-1G>AUnknown
TTBK1ENSG00000146216ENST00000259750p.?c.257-6C>TUnknown
WIZENSG00000011451ENST00000389282p.E122fs*92c.364delGDeletion - Frameshift
NBASENSG00000151779ENST00000281513p.D1101Dc.3303C>TSubstitution - coding silent
KIAA1211ENSG00000109265ENST00000264229p.Q29Hc.87G>TSubstitution - Missense
SMOXENSG00000088826ENST00000379460p.V204Vc.612G>ASubstitution - coding silent
INTS1ENSG00000164880ENST00000389470p.P1513Lc.4538C>TSubstitution - Missense
CYP2A6ENSG00000255974ENST00000301141p.W24*c.71G>ASubstitution - Nonsense
ABCF1ENSG00000204574ENST00000326195p.?c.2032-8C>TUnknown
WIPI2ENSG00000157954ENST00000288828p.H373Qc.1119C>ASubstitution - Missense
ENST00000325845p.?c.76-2A>TUnknown
PLXNB3ENSG00000198753ENST00000361971p.H1118Hc.3354C>TSubstitution - coding silent
CAPNS1ENSG00000126247ENST00000246533p.?c.392-2A>TUnknown
STOX2ENSG00000173320ENST00000308497p.G702Rc.2104G>ASubstitution - Missense
SOGA3ENSG00000214338ENST00000368268p.L937Fc.2809C>TSubstitution - Missense
FKBP15ENSG00000119321ENST00000446284p.E960Kc.2878G>ASubstitution - Missense
CEP57L1ENSG00000183137ENST00000359793p.A267fs*6c.797_798delGADeletion - Frameshift
IFNA4ENSG00000236637ENST00000421715p.T93Ac.277A>GSubstitution - Missense
JAK3ENSG00000105639ENST00000458235p.L1091Lc.3271C>TSubstitution - coding silent
LRP1BENSG00000168702ENST00000389484p.C2799Yc.8396G>ASubstitution - Missense
CDKN2AENSG00000147889ENST00000446177p.A36Vc.107C>TSubstitution - Missense
OTTHUMT00000057224.1p.T101Mc.302C>TSubstitution - Missense
BNC2ENSG00000173068ENST00000411752p.?c.965+4G>AUnknown
BNC2ENSG00000173068ENST00000380672p.G740Ec.2219G>ASubstitution - Missense
ELAVL2ENSG00000107105ENST00000380117p.A96Tc.286G>ASubstitution - Missense
CCDC101ENSG00000176476ENST00000317058p.H42Yc.124C>TSubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.A325Tc.973G>ASubstitution - Missense
XM_374396.2p.P926Lc.2777C>TSubstitution - Missense
ZNF484ENSG00000127081ENST00000375495p.S297Gc.889A>GSubstitution - Missense
UPF3BENSG00000125351ENST00000276201p.R227fs*21c.679delADeletion - Frameshift
NPEPPSENSG00000141279ENST00000322157p.I381Mc.1143T>GSubstitution - Missense
TASP1ENSG00000089123ENST00000337743p.R220Kc.659G>ASubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.?c.9589+4C>TUnknown
ZNF644ENSG00000122482ENST00000370440p.A995Vc.2984C>TSubstitution - Missense
CHAMP1ENSG00000198824ENST00000361283p.G238Rc.712G>ASubstitution - Missense
ATG2BENSG00000066739ENST00000359933p.H218Rc.653A>GSubstitution - Missense
YIPF1ENSG00000058799ENST00000464950p.R256Rc.768C>TSubstitution - coding silent
MYO5AENSG00000197535ENST00000399231p.G365Sc.1093G>ASubstitution - Missense
ELF3ENSG00000163435ENST00000359651p.P270Sc.808C>TSubstitution - Missense
CTSEENSG00000196188ENST00000358184p.P331Lc.992C>TSubstitution - Missense
OR4M2ENSG00000182974ENST00000332663p.F86Yc.257T>ASubstitution - Missense
ULK1ENSG00000177169ENST00000321867p.R553fs*92c.1653_1659delCTGCCGCDeletion - Frameshift
ATP2B4ENSG00000058668ENST00000357681p.M916Ic.2748G>ASubstitution - Missense
ENST00000299218p.Q431Qc.1293G>ASubstitution - coding silent
NPWENSG00000183971ENST00000329610p.R154Cc.460C>TSubstitution - Missense
DDR2ENSG00000162733ENST00000367922p.L792Lc.2376G>ASubstitution - coding silent
TET1ENSG00000138336ENST00000373644p.N2053Nc.6159C>TSubstitution - coding silent
AKAP3ENSG00000111254ENST00000228850p.E801Kc.2401G>ASubstitution - Missense
WEE1ENSG00000166483ENST00000450114p.Y295Hc.883T>CSubstitution - Missense
LRRK2ENSG00000188906ENST00000298910p.E2516Kc.7546G>ASubstitution - Missense
GFRA1ENSG00000151892ENST00000439649p.K279Kc.837G>ASubstitution - coding silent
PKD2L1ENSG00000107593ENST00000318222p.V132Mc.394G>ASubstitution - Missense
C10orf88ENSG00000119965ENST00000481909p.T141Ic.422C>TSubstitution - Missense
SCN8AENSG00000196876ENST00000354534p.Y901Cc.2702A>GSubstitution - Missense
NUP160ENSG00000030066ENST00000378460p.H1013Lc.3038A>TSubstitution - Missense
OR51H1PENSG00000176904ENST00000322059p.D72Yc.214G>TSubstitution - Missense
AP3M1ENSG00000185009ENST00000372745p.D393Dc.1179C>TSubstitution - coding silent
MYCBP2ENSG00000005810ENST00000357337p.G3183Dc.9548G>ASubstitution - Missense
PPP1R16BENSG00000101445ENST00000299824p.F66Fc.198C>TSubstitution - coding silent
SPPL2CENSG00000185294ENST00000329196p.A405Vc.1214C>TSubstitution - Missense
SETXENSG00000107290ENST00000372169p.Q1639Qc.4917G>ASubstitution - coding silent
LY6G6EENSG00000255552ENST00000399142p.S4Cc.11C>GSubstitution - Missense
MEIS1ENSG00000143995ENST00000407092p.G109Rc.325G>ASubstitution - Missense
ANXA4ENSG00000196975ENST00000394295p.D236Nc.706G>ASubstitution - Missense
SH3BP4ENSG00000130147ENST00000344528p.R240Rc.718A>CSubstitution - coding silent
PTCHD1ENSG00000165186ENST00000379361p.D108Nc.322G>ASubstitution - Missense
OSBPL3ENSG00000070882ENST00000313367p.?c.2444+2T>CUnknown
ENST00000330166p.S4188Cc.12562A>TSubstitution - Missense
HOXA7ENSG00000122592ENST00000242159p.A48Ac.144C>ASubstitution - coding silent
SH3BP5ENSG00000131370ENST00000383791p.L197Vc.589C>GSubstitution - Missense
NOL10ENSG00000115761ENST00000345985p.P540Sc.1618C>TSubstitution - Missense
ENST00000342748p.R259Rc.777A>GSubstitution - coding silent
IL1R2ENSG00000115590ENST00000393414p.D117Dc.351C>TSubstitution - coding silent
ANAPC1ENSG00000153107ENST00000341068p.G782Ec.2345G>ASubstitution - Missense
ZNF264ENSG00000083844ENST00000263095p.Y273Yc.819C>TSubstitution - coding silent
ZNF256ENSG00000152454ENST00000282308p.G214Rc.640G>ASubstitution - Missense
TACC1ENSG00000147526ENST00000317827p.E424Kc.1270G>ASubstitution - Missense
CPNE7ENSG00000178773ENST00000268720p.N260Nc.780C>TSubstitution - coding silent
ALS2ENSG00000003393ENST00000467448p.E10Ec.30G>ASubstitution - coding silent
FARP2ENSG00000006607ENST00000264042p.H964Rc.2891A>GSubstitution - Missense
ENST00000356127p.I31674Vc.95020A>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.A5083Tc.15247G>ASubstitution - Missense
NDUFA10ENSG00000130414ENST00000252711p.H202fs*25c.597_598insCInsertion - Frameshift
MFSD6LENSG00000185156ENST00000329805p.A297Tc.889G>ASubstitution - Missense
WDR16ENSG00000166596ENST00000352665p.L368Lc.1102C>TSubstitution - coding silent
ATP8B1ENSG00000081923ENST00000283684p.?c.2707+6T>CUnknown
ANKIB1ENSG00000001629ENST00000265742p.R771Kc.2312G>ASubstitution - Missense
PBRM1ENSG00000163939ENST00000356770p.Y640Cc.1919A>GSubstitution - Missense
NM_020418.2p.G33Ec.98G>ASubstitution - Missense
DOCK3ENSG00000088538ENST00000266037p.P1980Sc.5938C>TSubstitution - Missense
ZNF397ENSG00000186812ENST00000330501p.P179Lc.536C>TSubstitution - Missense
ENPP7ENSG00000182156ENST00000328313p.D335Nc.1003G>ASubstitution - Missense
GEMENSG00000164949ENST00000396194p.E230Vc.689A>TSubstitution - Missense
DNAJA1ENSG00000086061ENST00000330899p.M169Ic.507G>TSubstitution - Missense
TDRD12ENSG00000173809ENST00000444215p.V495Ic.1483G>ASubstitution - Missense
SIGLEC8ENSG00000105366ENST00000321424p.R297Rc.891G>ASubstitution - coding silent
C9orf3ENSG00000148120ENST00000375315p.Q649*c.1945C>TSubstitution - Nonsense
ASPDHENSG00000204653ENST00000376916p.G2Gc.6G>ASubstitution - coding silent
RFX4ENSG00000111783ENST00000357881p.?c.961+7A>TUnknown
BRAPENSG00000089234ENST00000419234p.Q530*c.1588C>TSubstitution - Nonsense
KIAA1462ENSG00000165757ENST00000375377p.P477Pc.1431A>GSubstitution - coding silent
ENST00000378682p.K558fs*2c.1674delADeletion - Frameshift
MEGF8ENSG00000105429ENST00000334370p.R1686Qc.5057G>ASubstitution - Missense
UACAENSG00000137831ENST00000379983p.E1068Kc.3202G>ASubstitution - Missense
LARS2ENSG00000011376ENST00000265537p.P357Sc.1069C>TSubstitution - Missense
PPP1R32ENSG00000162148ENST00000338608p.F133Fc.399C>TSubstitution - coding silent
UTP14AENSG00000156697ENST00000371042p.D455Nc.1363G>ASubstitution - Missense
ID1ENSG00000125968ENST00000376105p.A141Tc.421G>ASubstitution - Missense
ENST00000358661p.R78Rc.234G>ASubstitution - coding silent
MYO9AENSG00000066933ENST00000424560p.K820Ec.2458A>GSubstitution - Missense
ENST00000263187_v70p.T239Ic.716C>TSubstitution - Missense
FOXJ2ENSG00000065970ENST00000428177p.K86Kc.258G>ASubstitution - coding silent
BLNKENSG00000095585ENST00000427367p.W64*c.192G>ASubstitution - Nonsense
LRP2ENSG00000081479ENST00000263816p.?c.653-2A>TUnknown
GPR110ENSG00000153292ENST00000371253p.E222Qc.664G>CSubstitution - Missense
ARHGAP17ENSG00000140750ENST00000303665p.H667Hc.2001T>CSubstitution - coding silent
NEBENSG00000183091ENST00000397345p.E4361Kc.13081G>ASubstitution - Missense
ACTBENSG00000075624ENST00000417101p.?c.4-4G>AUnknown
GRB10ENSG00000106070ENST00000398812p.C534Rc.1600T>CSubstitution - Missense
PCDHA11ENSG00000249158ENST00000398640p.G97Ec.290G>ASubstitution - Missense
PCDHB14ENSG00000120327ENST00000239449p.L498Mc.1492C>ASubstitution - Missense
CRLF3ENSG00000176390ENST00000324238p.G3Rc.7G>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.G2207Gc.6621C>TSubstitution - coding silent
RALGDSENSG00000160271ENST00000372062p.E443Kc.1327G>ASubstitution - Missense
TRPM6ENSG00000119121ENST00000360774p.?c.3094+8T>AUnknown
COASYENSG00000068120ENST00000393818p.N481Nc.1443C>TSubstitution - coding silent
ZNF827ENSG00000151612ENST00000379448p.G827Gc.2481C>TSubstitution - coding silent
ENST00000326605p.A63Vc.188C>TSubstitution - Missense
ZNF451ENSG00000112200ENST00000370708p.H519Hc.1557T>CSubstitution - coding silent
ARHGAP28ENSG00000088756ENST00000400091p.P281Tc.841C>ASubstitution - Missense
MED12ENSG00000184634ENST00000374080p.R931Wc.2791C>TSubstitution - Missense
TIMMDC1ENSG00000113845ENST00000494664p.A164Ac.492C>TSubstitution - coding silent
EIF3CENSG00000184110ENST00000395587p.?c.777-1G>AUnknown
LMTK3ENSG00000142235ENST00000270238p.G245Rc.733G>ASubstitution - Missense
NAPEPLDENSG00000161048ENST00000455523p.P141Sc.421C>TSubstitution - Missense
MSH4ENSG00000057468ENST00000263187p.T239Ic.716C>TSubstitution - Missense
GBP5ENSG00000154451ENST00000370459p.T35Sc.103A>TSubstitution - Missense
SLC2A7ENSG00000197241ENST00000400906p.A318Vc.953C>TSubstitution - Missense
SPEF2ENSG00000152582ENST00000303129p.P575Sc.1723C>TSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.?c.7644-1G>TUnknown
C14orf105ENSG00000100557ENST00000216445p.H5Hc.15C>TSubstitution - coding silent
SPG11ENSG00000104133ENST00000558319p.L1301Pc.3902T>CSubstitution - Missense
LRRK1ENSG00000154237ENST00000388948p.F1047fs*32c.3137delTDeletion - Frameshift
PBXIP1ENSG00000163346ENST00000368463p.G694Vc.2081G>TSubstitution - Missense
C2CD5ENSG00000111731ENST00000544930p.L565Vc.1693C>GSubstitution - Missense
DCST1ENSG00000163357ENST00000295542p.P109Lc.326C>TSubstitution - Missense
DDX59ENSG00000118197ENST00000331314p.P313Sc.937C>TSubstitution - Missense
EID1ENSG00000255302ENST00000530028p.D20Ec.60T>ASubstitution - Missense
CHD4ENSG00000111642ENST00000357008p.G1481Dc.4442G>ASubstitution - Missense
SHCBP1LENSG00000157060ENST00000367547p.?c.770+2T>GUnknown
BAIAP3ENSG00000007516ENST00000324385p.V773Vc.2319G>ASubstitution - coding silent
SPAG17ENSG00000155761ENST00000336338p.A1522Ac.4566A>GSubstitution - coding silent
KIAA0754ENSG00000255103ENST00000530275p.E189*c.565G>TSubstitution - Nonsense
TMEM62ENSG00000137842ENST00000260403p.?c.1605+10C>TUnknown
FCGR2BENSG00000072694ENST00000358671p.L204Lc.610C>TSubstitution - coding silent
IGSF9BENSG00000080854ENST00000321016p.D101Nc.301G>ASubstitution - Missense
SYT8ENSG00000149043ENST00000535046p.V198Gc.593T>GSubstitution - Missense
LY9ENSG00000122224ENST00000368039p.S70Lc.209C>TSubstitution - Missense
PVRL4ENSG00000143217ENST00000368012p.G274Ec.821G>ASubstitution - Missense
PRRC2CENSG00000117523ENST00000392078p.F1651Fc.4953T>CSubstitution - coding silent
ANKRD13DENSG00000172932ENST00000308440p.P239Pc.717C>ASubstitution - coding silent
DHTKD1ENSG00000181192ENST00000263035p.?c.2047+4G>AUnknown
INPP5FENSG00000198825ENST00000361976p.L102Fc.304C>TSubstitution - Missense
BTG1ENSG00000133639ENST00000256015p.Q36Lc.107A>TSubstitution - Missense
ZFP91ENSG00000186660ENST00000316059p.A388Tc.1162G>ASubstitution - Missense
GLYATL2ENSG00000156689ENST00000287275p.I131Ic.393C>ASubstitution - coding silent
MORF4L1ENSG00000185787ENST00000331268p.D69Ec.207T>GSubstitution - Missense
CACNA2D4ENSG00000151062ENST00000382722p.P266Pc.798T>ASubstitution - coding silent
OBSCNENSG00000154358ENST00000570156p.G5524Sc.16570G>ASubstitution - Missense
GPR182ENSG00000166856ENST00000300098p.V108fs*133c.319delCDeletion - Frameshift
DISC1ENSG00000162946ENST00000366636p.A174Ac.522A>CSubstitution - coding silent
OBSCNENSG00000154358ENST00000284548p.R5926Cc.17776C>TSubstitution - Missense
STAT6ENSG00000166888ENST00000300134p.D419Hc.1255G>CSubstitution - Missense
GOLGA6BENSG00000215186ENST00000421285p.E400delEc.1190_1192delAGGDeletion - In frame
MIA3ENSG00000154305ENST00000344922p.E112Qc.334G>CSubstitution - Missense
CDC42BPAENSG00000143776ENST00000366769p.?c.4634+4G>AUnknown
MTHFD1LENSG00000120254ENST00000367321p.?c.2307+5G>AUnknown
RGPD4ENSG00000196862ENST00000408999p.E1693fs*21c.5079_5081AAT>TAComplex - frameshift
ELP5ENSG00000170291ENST00000356683p.L18Sc.53T>CSubstitution - Missense
OTUD5ENSG00000068308ENST00000156084p.M191Lc.571A>CSubstitution - Missense
NLRP11ENSG00000179873ENST00000443188p.T858Ic.2573C>TSubstitution - Missense
ZNF665ENSG00000197497ENST00000396424p.C180Cc.540T>CSubstitution - coding silent
PAPSS1ENSG00000138801ENST00000265174p.A417Ac.1251A>GSubstitution - coding silent
PRR14LENSG00000183530ENST00000397493p.H1473Yc.4417C>TSubstitution - Missense
NM_024735.2p.E227Kc.679G>ASubstitution - Missense
CHRNA1ENSG00000138435ENST00000261007p.W444Rc.1330T>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.I25371Vc.76111A>GSubstitution - Missense
DOCK3ENSG00000088538ENST00000266037p.?c.3194+10A>GUnknown
NM_016507p.T543Tc.1629C>TSubstitution - coding silent
KRTAP10-1ENSG00000215455ENST00000400375p.S230Sc.690C>ASubstitution - coding silent
KANSL3ENSG00000114982ENST00000431828p.?c.1087-2A>GUnknown
LAMA3ENSG00000053747ENST00000269217p.D1476Gc.4427A>GSubstitution - Missense
ENST00000445854p.Q471Pc.1412A>CSubstitution - Missense
ENSG00000105520ENST00000251473p.G329Sc.985G>ASubstitution - Missense
NCBP1ENSG00000136937ENST00000375147p.R412Mc.1235G>TSubstitution - Missense
ITIH3ENSG00000162267ENST00000449956p.D663Gc.1988A>GSubstitution - Missense
DNAJB5ENSG00000137094ENST00000312316p.P170fs*21c.504delCDeletion - Frameshift
FRMD4BENSG00000114541ENST00000398540p.G901Sc.2701G>ASubstitution - Missense
LRIG1ENSG00000144749ENST00000383703p.S971Sc.2913G>CSubstitution - coding silent
SS18L1ENSG00000184402ENST00000370848p.G309fs*>91c.921delGDeletion - Frameshift
IQUBENSG00000164675ENST00000324698p.L631Fc.1891C>TSubstitution - Missense
FBF1ENSG00000188878ENST00000319129p.A827Ac.2481C>TSubstitution - coding silent
GDF7ENSG00000143869ENST00000272224p.S350Ic.1049G>TSubstitution - Missense
FAM171BENSG00000144369ENST00000304698p.N303Yc.907A>TSubstitution - Missense
HIBCHENSG00000198130ENST00000359678p.C336Fc.1007G>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.P3818Sc.11452C>TSubstitution - Missense
MPDZENSG00000107186ENST00000541718p.S1810Rc.5430T>GSubstitution - Missense
TENM2ENSG00000145934ENST00000518659p.R2301Hc.6902G>ASubstitution - Missense
SLC29A1ENSG00000112759ENST00000371708p.V310Vc.930G>ASubstitution - coding silent
SEMG1ENSG00000124233ENST00000372781p.E302fs*14c.902_903delGADeletion - Frameshift
SIN3BENSG00000127511ENST00000379803p.K731Kc.2193G>ASubstitution - coding silent
SMOXENSG00000088826ENST00000278795p.V204Vc.612G>ASubstitution - coding silent
PRPS1L1ENSG00000229937ENST00000506618p.Y146Sc.437A>CSubstitution - Missense
GTDC1ENSG00000121964ENST00000392869p.Q93Qc.279G>ASubstitution - coding silent
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
HLA-AENSG00000206503ENST00000396634p.W23fs*77c.65_66insAGACInsertion - Frameshift
VAC14ENSG00000103043ENST00000261776p.K695Kc.2085G>ASubstitution - coding silent
GIMAP7ENSG00000179144ENST00000313543p.S299Fc.896C>TSubstitution - Missense
PCDHA6ENSG00000081842ENST00000378126p.L78Lc.234G>ASubstitution - coding silent
UBE2D2ENSG00000131508ENST00000398733p.Y127Hc.379T>CSubstitution - Missense
RAD51DENSG00000185379ENST00000345365p.T236Tc.708C>TSubstitution - coding silent
RAD51DENSG00000185379ENST00000335858p.T124Tc.372C>TSubstitution - coding silent
ENST00000296885p.S146Fc.437C>TSubstitution - Missense
ENST00000270288_v71p.D555Nc.1663G>ASubstitution - Missense
DIAPH1ENSG00000131504ENST00000398557p.K473Mc.1418A>TSubstitution - Missense
GNB4ENSG00000114450ENST00000232564p.?c.1delAUnknown
MCCC1ENSG00000078070ENST00000265594p.A92Tc.274G>ASubstitution - Missense
CDKL3ENSG00000006837ENST00000265334p.Q384Ec.1150C>GSubstitution - Missense
ABCA1ENSG00000165029ENST00000374736p.L1074Lc.3220C>TSubstitution - coding silent
OR13F1ENSG00000186881ENST00000334726p.S230Tc.688T>ASubstitution - Missense
MICAL1ENSG00000135596ENST00000358807p.W58*c.174G>ASubstitution - Nonsense
ARHGAP28ENSG00000088756ENST00000314319p.P122Tc.364C>ASubstitution - Missense
MEF2CENSG00000081189ENST00000424173p.E14Kc.40G>ASubstitution - Missense
NCKIPSDENSG00000213672ENST00000341520p.A466Tc.1396G>ASubstitution - Missense
TMX3ENSG00000166479ENST00000299608p.E37Dc.111A>TSubstitution - Missense
SLCO2A1ENSG00000174640ENST00000310926p.Y48Hc.142T>CSubstitution - Missense
FAXCENSG00000146267ENST00000389677p.R253Rc.759C>TSubstitution - coding silent
ENST00000357098p.G173Gc.519T>GSubstitution - coding silent
FBXO24ENSG00000106336ENST00000241071p.G434Dc.1301G>ASubstitution - Missense
BIN1ENSG00000136717ENST00000316724p.E84Ec.252G>ASubstitution - coding silent
GLB1LENSG00000163521ENST00000295759p.Y265Yc.795C>TSubstitution - coding silent
ZNF804BENSG00000182348ENST00000333190p.?c.108+2T>CUnknown
KIAA1324LENSG00000164659ENST00000297222p.I588Vc.1762A>GSubstitution - Missense
RUFY1ENSG00000176783ENST00000319449p.?c.956+9C>TUnknown
GDAP2ENSG00000196505ENST00000369443p.V435Vc.1305G>ASubstitution - coding silent
ENST00000438990p.W426*c.1278G>ASubstitution - Nonsense
SPOCD1ENSG00000134668ENST00000360482p.Q230*c.688C>TSubstitution - Nonsense
NM_005056.1p.L898Lc.2694A>GSubstitution - coding silent
AMOTL1ENSG00000166025ENST00000433060p.Y462Hc.1384T>CSubstitution - Missense
USP44ENSG00000136014ENST00000258499p.F594Ic.1780T>ASubstitution - Missense
NM_014574.2p.E259Kc.775G>ASubstitution - Missense
SH3GL3ENSG00000140600ENST00000324537p.R172Cc.514C>TSubstitution - Missense
TAPBPLENSG00000139192ENST00000266556p.E313Kc.937G>ASubstitution - Missense
CD1CENSG00000158481ENST00000368170p.R89Lc.266G>TSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.A5696Ac.17088C>TSubstitution - coding silent
DISC1ENSG00000162946ENST00000317586p.A174Ac.522A>CSubstitution - coding silent
CHRNA10ENSG00000129749ENST00000250699p.M303Vc.907A>GSubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.L1347Fc.4039C>TSubstitution - Missense
OR4X1ENSG00000176567ENST00000320048p.N227Kc.681C>ASubstitution - Missense
KBTBD7ENSG00000120696ENST00000379483p.D181Nc.541G>ASubstitution - Missense
PCDH9ENSG00000184226ENST00000377865p.A1123Vc.3368C>TSubstitution - Missense
COL11A1ENSG00000060718ENST00000370096p.?c.1738-3T>AUnknown
PFKPENSG00000067057ENST00000381125p.A598Sc.1792G>TSubstitution - Missense
WDR59ENSG00000103091ENST00000262144p.R906Qc.2717G>ASubstitution - Missense
NM_016231p.F180fs*30c.534delTDeletion - Frameshift
ACTG1ENSG00000184009ENST00000331925p.L104Vc.310C>GSubstitution - Missense
CACNA2D3ENSG00000157445ENST00000474759p.A1070Vc.3209C>TSubstitution - Missense
ELP5ENSG00000170291ENST00000573657p.L18Sc.53T>CSubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.E4142Ec.12426G>ASubstitution - coding silent
KIF6ENSG00000164627ENST00000538893p.T108Tc.324A>GSubstitution - coding silent
HKR1ENSG00000181666ENST00000392153p.R358Kc.1073G>ASubstitution - Missense
FLNBENSG00000136068ENST00000357272p.?c.293-6C>TUnknown
DCST1ENSG00000163357ENST00000368419p.P109Lc.326C>TSubstitution - Missense
SSRP1ENSG00000149136ENST00000278412p.?c.1002-9C>TUnknown
ZNF618ENSG00000157657ENST00000288466p.P258Lc.773C>TSubstitution - Missense
SCN9AENSG00000169432ENST00000409672p.F1788Vc.5362T>GSubstitution - Missense
XPO7ENSG00000130227ENST00000433566p.R559Cc.1675C>TSubstitution - Missense
CES3ENSG00000172828ENST00000303334p.?c.819+3C>TUnknown
UNC5CENSG00000182168ENST00000453304p.S854Nc.2561G>ASubstitution - Missense
MYRIPENSG00000170011ENST00000302541p.P448Lc.1343C>TSubstitution - Missense
ZNF418ENSG00000196724ENST00000396147p.F161Fc.483C>TSubstitution - coding silent
NM_000670.3p.?c.844-2A>TUnknown
INTS12ENSG00000138785ENST00000394735p.E439Kc.1315G>ASubstitution - Missense
SMTNENSG00000183963ENST00000358743p.?c.792+10G>AUnknown
ENST00000328644p.L53Lc.159C>TSubstitution - coding silent
NM_003319p.G11051Ec.33152G>ASubstitution - Missense
MLLT4ENSG00000130396ENST00000366806p.P1216Sc.3646C>TSubstitution - Missense
NLRC5ENSG00000140853ENST00000262510p.?c.2711+4A>TUnknown
TRIP10ENSG00000125733ENST00000313285p.R222Hc.665G>ASubstitution - Missense
UNC80ENSG00000144406ENST00000439458p.?c.3634-1G>AUnknown
MPHOSPH6ENSG00000135698ENST00000258169p.S110Lc.329C>TSubstitution - Missense
KIF16BENSG00000089177ENST00000354981p.G811Ec.2432G>ASubstitution - Missense
FN1ENSG00000115414ENST00000336916p.V1147Ec.3440T>ASubstitution - Missense
PLD2ENSG00000129219ENST00000263088p.P928Lc.2783C>TSubstitution - Missense
LRRC7ENSG00000033122ENST00000035383p.E195Kc.583G>ASubstitution - Missense
PARP4ENSG00000102699ENST00000381989p.G1602Gc.4806T>CSubstitution - coding silent
DYNC1H1ENSG00000197102ENST00000360184p.V612Mc.1834G>ASubstitution - Missense
SPEF2ENSG00000152582ENST00000356031p.P1778Sc.5332C>TSubstitution - Missense
SNX22ENSG00000157734ENST00000325881p.K181Kc.543G>ASubstitution - coding silent
SEC23AENSG00000100934ENST00000307712p.S156Nc.467G>ASubstitution - Missense
ST5ENSG00000166444ENST00000534127p.R354Rc.1062G>ASubstitution - coding silent
TSPAN4ENSG00000214063ENST00000397397p.?c.433-3_433-2insCUnknown
ATP2B4ENSG00000058668ENST00000367218p.M916Ic.2748G>ASubstitution - Missense
FAM81AENSG00000157470ENST00000288228p.E301Kc.901G>ASubstitution - Missense
TMPRSS5ENSG00000166682ENST00000299882p.A59Ac.177C>TSubstitution - coding silent
GLULENSG00000135821ENST00000339526p.P348Tc.1042C>ASubstitution - Missense
ENST00000298815_v65p.L200Hc.599T>ASubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.P1734Sc.5200C>TSubstitution - Missense
OR8H3ENSG00000181761ENST00000313472p.I201Fc.601A>TSubstitution - Missense
TAOK2ENSG00000149930ENST00000416441p.A60Ac.180C>TSubstitution - coding silent
RMND5BENSG00000145916ENST00000313386p.E31Kc.91G>ASubstitution - Missense
FNIP2ENSG00000052795ENST00000264433p.G820Gc.2460C>TSubstitution - coding silent
CERCAMENSG00000167123ENST00000372842p.V181Vc.543C>TSubstitution - coding silent
YEATS2ENSG00000163872ENST00000305135p.I247Tc.740T>CSubstitution - Missense
MEGF8ENSG00000105429ENST00000251268p.E1503Kc.4507G>ASubstitution - Missense
ENST00000251268_v61p.E1962Kc.5884G>ASubstitution - Missense
ZNF318ENSG00000171467ENST00000361428p.R913Wc.2737A>TSubstitution - Missense
LPHN1ENSG00000072071ENST00000340736p.A550Sc.1648G>TSubstitution - Missense
DAZAP1ENSG00000071626ENST00000233078p.A340Ac.1020T>CSubstitution - coding silent
SEMG2ENSG00000124157ENST00000372769p.T582Rc.1745C>GSubstitution - Missense
SERINC3ENSG00000132824ENST00000255175p.S327*c.980C>ASubstitution - Nonsense
NM_058004.1p.A1555Ac.4665G>TSubstitution - coding silent
PRPS1L1ENSG00000229937ENST00000506618p.Y146Sc.437A>CSubstitution - Missense
ATP10BENSG00000118322ENST00000327245p.V728Mc.2182G>ASubstitution - Missense
OR12D2ENSG00000168787ENST00000383555p.V47Vc.141C>TSubstitution - coding silent
PLXNB3ENSG00000198753ENST00000538966p.H1141Hc.3423C>TSubstitution - coding silent
HMG20BENSG00000064961ENST00000333651p.E191Ec.573G>ASubstitution - coding silent
RBM27ENSG00000091009ENST00000265271p.L705Lc.2115G>CSubstitution - coding silent
ZNF568ENSG00000198453ENST00000333987p.R17Hc.50G>ASubstitution - Missense
GTF3C4ENSG00000125484ENST00000372146p.E495Ac.1484A>CSubstitution - Missense
CNDP1ENSG00000150656ENST00000358821p.R91Cc.271C>TSubstitution - Missense
COL7A1ENSG00000114270ENST00000328333p.D827Nc.2479G>ASubstitution - Missense
COL4A3BPENSG00000113163ENST00000405807p.S373Nc.1118G>ASubstitution - Missense
NCKIPSDENSG00000213672ENST00000294129p.A466Tc.1396G>ASubstitution - Missense
EXD3ENSG00000187609ENST00000340951p.R243Gc.727C>GSubstitution - Missense
RRAGAENSG00000155876ENST00000380527p.E146Vc.437A>TSubstitution - Missense
GOLGB1ENSG00000173230ENST00000340645p.G461Dc.1382G>ASubstitution - Missense
GRID2IPENSG00000215045ENST00000457091p.?c.3399+6C>TUnknown
TMCC1ENSG00000172765ENST00000393238p.V407Lc.1219G>TSubstitution - Missense
ANXA4ENSG00000196975ENST00000394295p.V210Vc.630G>ASubstitution - coding silent
SCG2ENSG00000171951ENST00000305409p.A12Ac.36C>TSubstitution - coding silent
DOCK10ENSG00000135905ENST00000258390p.M1343Vc.4027A>GSubstitution - Missense
PRDM9ENSG00000164256ENST00000296682p.C837Cc.2511T>CSubstitution - coding silent
ENST00000356539_v65p.S522Lc.1565C>TSubstitution - Missense
ADD2ENSG00000075340ENST00000264436p.G198Sc.592G>ASubstitution - Missense
IL18R1ENSG00000115604ENST00000233957p.?c.950-9C>TUnknown
RORCENSG00000143365ENST00000318247p.Q275Qc.825G>ASubstitution - coding silent
SYCP1ENSG00000198765ENST00000369518p.D889Gc.2666A>GSubstitution - Missense
KRTAP5-2ENSG00000205867ENST00000412090p.G87Sc.259G>ASubstitution - Missense
NOS1APENSG00000198929ENST00000361897p.?c.177+1G>AUnknown
FREM2ENSG00000150893ENST00000280481p.T1573Sc.4717A>TSubstitution - Missense
RC3H1ENSG00000135870ENST00000258349p.E998Kc.2992G>ASubstitution - Missense
SCAF11ENSG00000139218ENST00000369367p.V439Ac.1316T>CSubstitution - Missense
INPP5FENSG00000198825ENST00000369081p.L6Fc.16C>TSubstitution - Missense
MGEA5ENSG00000198408ENST00000370094p.A493Tc.1477G>ASubstitution - Missense
BTG1ENSG00000133639ENST00000256015p.S43Ic.128G>TSubstitution - Missense
BTG1ENSG00000133639ENST00000256015p.Y5*c.15C>GSubstitution - Nonsense
HALENSG00000084110ENST00000261208p.?c.1764-10C>TUnknown
C14orf164ENSG00000215277ENST00000430154p.C27Sc.79T>ASubstitution - Missense
JAG2ENSG00000184916ENST00000331782p.R58Cc.172C>TSubstitution - Missense
SEPHS1ENSG00000086475ENST00000327347p.P34Sc.100C>TSubstitution - Missense
AKAP13ENSG00000170776ENST00000361243p.T1890Ac.5668A>GSubstitution - Missense
KNDC1ENSG00000171798ENST00000304613p.K1147Mc.3440A>TSubstitution - Missense
PCNXL2ENSG00000135749ENST00000258229p.E424Kc.1270G>ASubstitution - Missense
MYO7AENSG00000137474ENST00000409709p.K1876Tc.5627A>CSubstitution - Missense
SH3GL3ENSG00000140600ENST00000324537p.R173Hc.518G>ASubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.L1347Fc.4039C>TSubstitution - Missense
ERBB3ENSG00000065361ENST00000267101p.T1254Ac.3760A>GSubstitution - Missense
ESPL1ENSG00000135476ENST00000257934p.A1846Ac.5538C>TSubstitution - coding silent
MYO9AENSG00000066933ENST00000356056p.K820Ec.2458A>GSubstitution - Missense
NM_002221p.D263Nc.787G>ASubstitution - Missense
CDC42BPAENSG00000143776ENST00000366766p.?c.4739+4G>AUnknown
ENST00000331986p.S3346fs*5c.10035delCDeletion - Frameshift
SDCBP2ENSG00000125775ENST00000360779p.S66Sc.198C>TSubstitution - coding silent
SORBS1ENSG00000095637ENST00000371247p.R1047*c.3139C>TSubstitution - Nonsense
ENST00000328843_v70p.T2114Ac.6340A>GSubstitution - Missense
ACTBENSG00000075624ENST00000417101p.D6Ec.18T>ASubstitution - Missense
DDX60LENSG00000181381ENST00000505890p.A716Tc.2146G>ASubstitution - Missense
ZNF318ENSG00000171467ENST00000318149p.R913Wc.2737A>TSubstitution - Missense
TENM2ENSG00000145934ENST00000545108p.R2300Hc.6899G>ASubstitution - Missense
SIMC1ENSG00000170085ENST00000429602p.Q91Qc.273G>ASubstitution - coding silent
PPIP5K2ENSG00000145725ENST00000358359p.D246Yc.736G>TSubstitution - Missense
DOCK10ENSG00000135905ENST00000409592p.T606Tc.1818C>ASubstitution - coding silent
CLASP1ENSG00000074054ENST00000455322p.P447Sc.1339C>TSubstitution - Missense
HLA-AENSG00000206503ENST00000376806p.W23fs*77c.60_61insCAGAInsertion - Frameshift
RYR2ENSG00000198626ENST00000360064p.K4607fs*1c.13813_13814insTInsertion - Frameshift
PTPN7ENSG00000143851ENST00000309017p.N236Nc.708T>CSubstitution - coding silent
ITPKBENSG00000143772ENST00000366784p.P243Pc.729T>ASubstitution - coding silent
LGR6ENSG00000133067ENST00000439764p.V760Vc.2280G>ASubstitution - coding silent
NM_003319p.A4891Tc.14671G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.G11243Ec.33728G>ASubstitution - Missense
CTC1ENSG00000178971ENST00000315684p.G115Ec.344G>ASubstitution - Missense
PLECENSG00000178209ENST00000354958p.A1256Tc.3766G>ASubstitution - Missense
RTBDNENSG00000132026ENST00000322912p.I216Vc.646A>GSubstitution - Missense
CCDC57ENSG00000176155ENST00000389641p.Q471Pc.1412A>CSubstitution - Missense
ENST00000262401p.S263Pc.787T>CSubstitution - Missense
TDRD7ENSG00000196116ENST00000355295p.N971Kc.2913T>ASubstitution - Missense
TKTENSG00000163931ENST00000462138p.C206Cc.618C>TSubstitution - coding silent
TGM2ENSG00000198959ENST00000361475p.T556Mc.1667C>TSubstitution - Missense
IRF3ENSG00000126456ENST00000309877p.P353Lc.1058C>TSubstitution - Missense
OSBPL2ENSG00000130703ENST00000313733p.R50Rc.150G>ASubstitution - coding silent
TEN1-CDK3ENSG00000261408ENST00000448471p.G114Gc.342G>ASubstitution - coding silent
NM_013257p.Q164*c.490C>TSubstitution - Nonsense
ADHFE1ENSG00000147576ENST00000396623p.R55Kc.164G>ASubstitution - Missense
NM_144650.1p.R7Kc.20G>ASubstitution - Missense
AMOTENSG00000126016ENST00000371959p.R24Hc.71G>ASubstitution - Missense
ATP2C2ENSG00000064270ENST00000262429p.S795Nc.2384G>ASubstitution - Missense
CPS1ENSG00000021826ENST00000430249p.E629Gc.1886A>GSubstitution - Missense
SGIP1ENSG00000118473ENST00000371039p.R30Kc.89G>ASubstitution - Missense
DEPDC1ENSG00000024526ENST00000456315p.S407Nc.1220G>ASubstitution - Missense
MTF2ENSG00000143033ENST00000370298p.R411Rc.1231A>CSubstitution - coding silent
SLC12A6ENSG00000140199ENST00000290209p.?c.1790+5G>AUnknown
FOXN3ENSG00000053254ENST00000557258p.Q88*c.262C>TSubstitution - Nonsense
SPTBENSG00000070182ENST00000542895p.?c.1795+7C>GUnknown
ECHDC2ENSG00000121310ENST00000371522p.V89Mc.265G>ASubstitution - Missense
BNIP2ENSG00000140299ENST00000267859p.M408Tc.1223T>CSubstitution - Missense
IGFN1ENSG00000163395ENST00000335211p.P3005Pc.9015A>GSubstitution - coding silent
TRIM46ENSG00000163462ENST00000334634p.R118*c.352C>TSubstitution - Nonsense
TROVE2ENSG00000116747ENST00000367444p.L125Fc.373C>TSubstitution - Missense
TXNIPENSG00000117289ENST00000369317p.K19Ec.55A>GSubstitution - Missense
TXNIPENSG00000117289ENST00000369317p.Y21Sc.62A>CSubstitution - Missense
ANKRD26ENSG00000107890ENST00000376070p.K791fs*19c.2373delADeletion - Frameshift
NAV2ENSG00000166833ENST00000360655p.R745Wc.2233C>TSubstitution - Missense
GIMAP8ENSG00000171115ENST00000307271p.I661Ic.1983A>TSubstitution - coding silent
ACTBENSG00000075624ENST00000331789p.M16Rc.47T>GSubstitution - Missense
ENST00000331340_v65p.?c.40+2T>CUnknown
TNRC18ENSG00000182095ENST00000430969p.S137fs*105c.408delCDeletion - Frameshift
SMARCD3ENSG00000082014ENST00000392811p.E371Kc.1111G>ASubstitution - Missense
CD74ENSG00000019582ENST00000377795p.M32Ic.96G>ASubstitution - Missense
SYNRGENSG00000006114ENST00000346661p.L1172Lc.3516A>GSubstitution - coding silent
PCDHB5ENSG00000113209ENST00000231134p.L243fs*18c.724delTDeletion - Frameshift
ENPP1ENSG00000197594ENST00000360971p.R446Sc.1336C>ASubstitution - Missense
ENST00000229606p.V324Gc.971T>GSubstitution - Missense
COASYENSG00000068120ENST00000393818p.L354Pc.1061T>CSubstitution - Missense
NM_001198.2p.K54Kc.162G>ASubstitution - coding silent
DSPENSG00000096696ENST00000379802p.C553Cc.1659C>TSubstitution - coding silent
COL4A3BPENSG00000113163ENST00000380494p.S501Nc.1502G>ASubstitution - Missense
GOLGB1ENSG00000173230ENST00000340645p.K2653fs*22c.7957_7958delAADeletion - Frameshift
CDKN2AENSG00000147889ENST00000498124p.A36Vc.107C>TSubstitution - Missense
MAZENSG00000103495ENST00000322945p.I211Fc.631A>TSubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.P720Sc.2158C>TSubstitution - Missense
TAOK2ENSG00000149930ENST00000279394p.A233Ac.699C>TSubstitution - coding silent
TIA1ENSG00000116001ENST00000433529p.S349Sc.1047T>CSubstitution - coding silent
DOCK10ENSG00000135905ENST00000258390p.T612Tc.1836C>ASubstitution - coding silent
XM_051221.5p.V1677Mc.5029G>ASubstitution - Missense
ROCK2ENSG00000134318ENST00000315872p.Q798Hc.2394A>TSubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.T2114Ac.6340A>GSubstitution - Missense
HK2ENSG00000159399ENST00000290573p.E565Ec.1695G>ASubstitution - coding silent
BSGENSG00000172270ENST00000333511p.T103Mc.308C>TSubstitution - Missense
LLGL2ENSG00000073350ENST00000167462p.Q22Rc.65A>GSubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.L891Fc.2671C>TSubstitution - Missense
PPP2CBENSG00000104695ENST00000221138p.G247Rc.739G>ASubstitution - Missense
EIF4ENIF1ENSG00000184708ENST00000397525p.R256Rc.768G>ASubstitution - coding silent
APRTENSG00000198931ENST00000378364p.E158Gc.473A>GSubstitution - Missense
ZNF836ENSG00000196267ENST00000322146p.D448Vc.1343A>TSubstitution - Missense
EWSR1ENSG00000182944ENST00000333395p.Q160*c.478C>TSubstitution - Nonsense
IRF8ENSG00000140968ENST00000268638p.K66Rc.197A>GSubstitution - Missense
CHKAENSG00000110721ENST00000265689p.K264Ec.790A>GSubstitution - Missense
BTG1ENSG00000133639ENST00000256015p.Y5Hc.13T>CSubstitution - Missense
OR5B17ENSG00000197786ENST00000357377p.L49Lc.145C>TSubstitution - coding silent
CEP170BENSG00000099814ENST00000556508p.R150Wc.448C>TSubstitution - Missense
PHF21AENSG00000135365ENST00000323180p.A241Ac.723C>TSubstitution - coding silent
TP53BP2ENSG00000143514ENST00000391878p.A138Tc.412G>ASubstitution - Missense
TAS2R30ENSG00000256188ENST00000539585p.K207Qc.619A>CSubstitution - Missense
ENST00000397678p.G173Rc.517G>ASubstitution - Missense
TMEM53ENSG00000126106ENST00000372242p.P71Sc.211C>TSubstitution - Missense
DGKBENSG00000136267ENST00000258767p.E175Kc.523G>ASubstitution - Missense
CHST10ENSG00000115526ENST00000542617p.P175Pc.525C>TSubstitution - coding silent
MEI1ENSG00000167077ENST00000540833p.G469Sc.1405G>ASubstitution - Missense
DTNAENSG00000134769ENST00000269191p.?c.1265+5G>AUnknown
EPB41L3ENSG00000082397ENST00000544123p.V871Ic.2611G>ASubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.D2516Nc.7546G>ASubstitution - Missense
PEX5LENSG00000114757ENST00000263962p.L533Lc.1599G>TSubstitution - coding silent
PLCB4ENSG00000101333ENST00000378473p.G550Cc.1648G>TSubstitution - Missense
FLYWCH1ENSG00000059122ENST00000399667p.L426fs*128c.1272_1273insCInsertion - Frameshift
MYO5AENSG00000197535ENST00000358212p.G365Sc.1093G>ASubstitution - Missense
TROVE2ENSG00000116747ENST00000367446p.L125Fc.373C>TSubstitution - Missense
XIRP2ENSG00000163092ENST00000409728p.L411Rc.1232T>GSubstitution - Missense
FNIP2ENSG00000052795ENST00000264433p.G146Gc.438C>TSubstitution - coding silent
RAB3CENSG00000152932ENST00000282878p.G102Ec.305G>ASubstitution - Missense
HSD17B8ENSG00000204228ENST00000374662p.T256Ic.767C>TSubstitution - Missense
CPEB4ENSG00000113742ENST00000265085p.L386Lc.1158G>ASubstitution - coding silent
CASKIN1ENSG00000167971ENST00000343516p.G385Gc.1155G>ASubstitution - coding silent
PREX1ENSG00000124126ENST00000396220p.T232Sc.695C>GSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.G1275Gc.3825C>ASubstitution - coding silent
KMT2CENSG00000055609ENST00000355193p.P2468Sc.7402C>TSubstitution - Missense
LPHN3ENSG00000150471ENST00000514591p.N92Nc.276T>CSubstitution - coding silent
KIAA1239ENSG00000174145ENST00000309447p.C1728Cc.5184C>TSubstitution - coding silent
BBS2ENSG00000125124ENST00000245157p.S433Sc.1299C>TSubstitution - coding silent
CIAO1ENSG00000144021ENST00000488633p.G265Vc.794G>TSubstitution - Missense
NPTX1ENSG00000171246ENST00000306773p.A252Vc.755C>TSubstitution - Missense
NM_031968.1p.?c.253-1G>AUnknown
WDR45BENSG00000141580ENST00000392325p.V115Vc.345T>ASubstitution - coding silent
ZNF750ENSG00000141579ENST00000269394p.G586Vc.1757G>TSubstitution - Missense
LIMD2ENSG00000136490ENST00000259006p.V36Ac.107T>CSubstitution - Missense
ENST00000389520_v65p.Y878Yc.2634C>TSubstitution - coding silent
DNAJB5ENSG00000137094ENST00000453597p.P284fs*21c.846delCDeletion - Frameshift
LMOD3ENSG00000163380ENST00000420581p.S288Rc.862A>CSubstitution - Missense
FLNBENSG00000136068ENST00000295956p.?c.293-6C>TUnknown
ZNF217ENSG00000171940ENST00000371471p.R185fs*47c.552delCDeletion - Frameshift
ARFGEF1ENSG00000066777ENST00000262215p.W1520Sc.4559G>CSubstitution - Missense
APOBENSG00000084674ENST00000233242p.Y2125*c.6375T>ASubstitution - Nonsense
ZNHIT6ENSG00000117174ENST00000370574p.R91Rc.273G>ASubstitution - coding silent
SACSENSG00000151835ENST00000382298p.I1395Fc.4183A>TSubstitution - Missense
ENST00000360220p.R250Rc.750G>ASubstitution - coding silent
NIPBLENSG00000164190ENST00000282516p.R1120Cc.3358C>TSubstitution - Missense
TPTE2ENSG00000132958ENST00000390680p.?c.1072-13_1088>29Unknown
VPS13CENSG00000129003ENST00000261517p.M1866Vc.5596A>GSubstitution - Missense
FANCMENSG00000187790ENST00000267430p.S1796Fc.5387C>TSubstitution - Missense
SLC12A1ENSG00000074803ENST00000396577p.A503Vc.1508C>TSubstitution - Missense
NID2ENSG00000087303ENST00000216286p.Q494Qc.1482A>GSubstitution - coding silent
RUSC1ENSG00000160753ENST00000368347p.?c.585-5C>TUnknown
CRNNENSG00000143536ENST00000271835p.T328Tc.984T>ASubstitution - coding silent
PIK3C2BENSG00000133056ENST00000367187p.R1008Wc.3022C>TSubstitution - Missense
TMEM132CENSG00000181234ENST00000435159p.E460Kc.1378G>ASubstitution - Missense
LEPREL2ENSG00000110811ENST00000396725p.L296Lc.886C>TSubstitution - coding silent
ZFYVE26ENSG00000072121ENST00000347230p.I1650Ic.4950C>TSubstitution - coding silent
LGR4ENSG00000205213ENST00000379214p.T318Ic.953C>TSubstitution - Missense
RAD51BENSG00000182185ENST00000487270p.T299Ic.896C>TSubstitution - Missense
ZNF710ENSG00000140548ENST00000268154p.?c.1961_1995del35Unknown
ENST00000530275_v68p.E189*c.565G>TSubstitution - Nonsense
TPCN1ENSG00000186815ENST00000335509p.A684Tc.2050G>ASubstitution - Missense
C10orf54ENSG00000107738ENST00000394957p.G253Rc.757G>ASubstitution - Missense
ENST00000398860p.R2974Cc.8920C>TSubstitution - Missense
WDR76ENSG00000092470ENST00000263795p.G333Gc.999G>ASubstitution - coding silent
CDAN1ENSG00000140326ENST00000356231p.L1113Pc.3338T>CSubstitution - Missense
DRAP1ENSG00000175550ENST00000312515p.S138Lc.413C>TSubstitution - Missense
ENST00000373082p.Q584Qc.1752G>ASubstitution - coding silent
LY9ENSG00000122224ENST00000368041p.S70Lc.209C>TSubstitution - Missense
ANO6ENSG00000177119ENST00000425752p.?c.2218-4A>GUnknown
KIF21AENSG00000139116ENST00000361961p.R176Kc.527G>ASubstitution - Missense
LTBENSG00000227507ENST00000429299p.A89Ac.267T>ASubstitution - coding silent
VPS13BENSG00000132549ENST00000357162p.E1376Kc.4126G>ASubstitution - Missense
DDX19BENSG00000157349ENST00000288071p.P190fs*3c.567delCDeletion - Frameshift
COL12A1ENSG00000111799ENST00000322507p.R1086Qc.3257G>ASubstitution - Missense
MED23ENSG00000112282ENST00000540546p.?c.2239-1G>TUnknown
AFAP1L1ENSG00000157510ENST00000296721p.R677Wc.2029C>TSubstitution - Missense
TRPM6ENSG00000119121ENST00000360774p.K1085Qc.3253A>CSubstitution - Missense
VAV2ENSG00000160293ENST00000371850p.D140Gc.419A>GSubstitution - Missense
ATP6V1E2ENSG00000250565ENST00000306448p.L45Fc.133C>TSubstitution - Missense
VDAC1ENSG00000213585ENST00000395044p.R218Cc.652C>TSubstitution - Missense
CSNK1EENSG00000213923ENST00000400206p.P364Sc.1090C>TSubstitution - Missense
ENST00000368626p.I326Ic.978C>TSubstitution - coding silent
RPS6KA6ENSG00000072133ENST00000262752p.S555Tc.1663T>ASubstitution - Missense
NBEAL2ENSG00000160796ENST00000292309p.G454Dc.1361G>ASubstitution - Missense
SU_MAST3p.A1170Vc.3509C>TSubstitution - Missense
DNAJC13ENSG00000138246ENST00000260818p.L1379Fc.4135C>TSubstitution - Missense
FEM1AENSG00000141965ENST00000269856p.R380Rc.1140C>TSubstitution - coding silent
XPO6ENSG00000169180ENST00000304658p.L256Lc.768C>TSubstitution - coding silent
KIF6ENSG00000164627ENST00000287152p.?c.2082+2T>AUnknown
USP42ENSG00000106346ENST00000306177p.P798Lc.2393C>TSubstitution - Missense
AGFG2ENSG00000106351ENST00000300176p.P424Lc.1271C>TSubstitution - Missense
FHOD1ENSG00000135723ENST00000258201p.L844Mc.2530C>ASubstitution - Missense
ZSCAN18ENSG00000121413ENST00000433686p.P67Sc.199C>TSubstitution - Missense
SSC5DENSG00000179954ENST00000389623p.K650Kc.1950A>GSubstitution - coding silent
ZNF419ENSG00000105136ENST00000424930p.S326Nc.977G>ASubstitution - Missense
CRYBB1ENSG00000100122ENST00000215939p.A146Ac.438C>TSubstitution - coding silent
HELZ2ENSG00000130589ENST00000467148p.Y1661Cc.4982A>GSubstitution - Missense
ZNF841ENSG00000197608ENST00000389534p.R336Qc.1007G>ASubstitution - Missense
AHSPENSG00000169877ENST00000302312p.Q54Lc.161A>TSubstitution - Missense
FBXO31ENSG00000103264ENST00000311635p.E399Kc.1195G>ASubstitution - Missense
STAU2ENSG00000040341ENST00000355780p.D169Dc.507C>TSubstitution - coding silent
MIB1ENSG00000101752ENST00000261537p.Y1006Fc.3017A>TSubstitution - Missense
RNMTENSG00000101654ENST00000383314p.E27Ec.81G>ASubstitution - coding silent
MGAMENSG00000257335ENST00000475668p.?c.6639+9T>CUnknown
MGAMENSG00000257335ENST00000475668p.V236Ic.706G>ASubstitution - Missense
CYP11B2ENSG00000179142ENST00000323110p.G452Rc.1354G>ASubstitution - Missense
UBN2ENSG00000157741ENST00000288561p.P1160Sc.3478C>TSubstitution - Missense
KCNK1ENSG00000135750ENST00000366621p.R171Cc.511C>TSubstitution - Missense
STRAPENSG00000023734ENST00000419869p.L279Lc.837C>TSubstitution - coding silent
SCN8AENSG00000196876ENST00000354534p.S399Yc.1196C>ASubstitution - Missense
ENST00000263762p.P553Tc.1657C>ASubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.T1425Ic.4274C>TSubstitution - Missense
NUP98ENSG00000110713ENST00000324932p.E1783Kc.5347G>ASubstitution - Missense
SORL1ENSG00000137642ENST00000260197p.G568Ec.1703G>ASubstitution - Missense
PEAR1ENSG00000187800ENST00000338302p.G936Rc.2806G>ASubstitution - Missense
ESPL1ENSG00000135476ENST00000257934p.L105Lc.315G>ASubstitution - coding silent
ENST00000251268_v61p.R1753Qc.5258G>ASubstitution - Missense
ENST00000391849p.A85Ac.255C>TSubstitution - coding silent
TACC1ENSG00000147526ENST00000443286p.E440Kc.1318G>ASubstitution - Missense
FRMPD1ENSG00000070601ENST00000541302p.T444Tc.1332C>ASubstitution - coding silent
ACTN1ENSG00000072110ENST00000394419p.A456Dc.1367C>ASubstitution - Missense
RNGTTENSG00000111880ENST00000369475p.P118Sc.352C>TSubstitution - Missense
HMHA1ENSG00000180448ENST00000536472p.I784Ic.2352C>TSubstitution - coding silent
SPOCK3ENSG00000196104ENST00000357154p.A12Tc.34G>ASubstitution - Missense
ENST00000221462_v70p.E677Kc.2029G>ASubstitution - Missense
MAST3ENSG00000099308ENST00000262811p.A1148Vc.3443C>TSubstitution - Missense
RNPEPENSG00000176393ENST00000447312p.?c.462-5G>AUnknown
DCAF6ENSG00000143164ENST00000367840p.T385Tc.1155G>ASubstitution - coding silent
TRIM5ENSG00000132256ENST00000380034p.T346Ic.1037C>TSubstitution - Missense
ANKS1BENSG00000185046ENST00000329257p.V572Lc.1714G>CSubstitution - Missense
DNPH1ENSG00000112667ENST00000230431p.S123Fc.368C>TSubstitution - Missense
ZNF318ENSG00000171467ENST00000361428p.P1293Rc.3878C>GSubstitution - Missense
MIER3ENSG00000155545ENST00000381213p.*550Wc.1650A>GNonstop extension
EMR3ENSG00000131355ENST00000253673p.T163Ic.488C>TSubstitution - Missense
GALNT13ENSG00000144278ENST00000409237p.V10Vc.30T>CSubstitution - coding silent
CABIN1ENSG00000099991ENST00000398319p.S888Fc.2663C>TSubstitution - Missense
HIST1H2AHENSG00000184825ENST00000377459p.L59Lc.177G>ASubstitution - coding silent
POM121L2ENSG00000158553ENST00000444565p.S726Ic.2177G>TSubstitution - Missense
ENST00000300671p.R1783Wc.5347C>TSubstitution - Missense
TEN1-CDK3ENSG00000261408ENST00000448471p.T158Ac.472A>GSubstitution - Missense
MZF1ENSG00000099326ENST00000215057p.L584Vc.1750C>GSubstitution - Missense
CERS4ENSG00000090661ENST00000251363p.P63Pc.189C>TSubstitution - coding silent
SNX5ENSG00000089006ENST00000377768p.S380Fc.1139C>TSubstitution - Missense
MTF2ENSG00000143033ENST00000370298p.?c.1161-2A>GUnknown
GBP7ENSG00000213512ENST00000294671p.K219*c.655A>TSubstitution - Nonsense
TFDP1ENSG00000198176ENST00000375370p.S30Sc.90C>TSubstitution - coding silent
DLGAP5ENSG00000126787ENST00000247191p.R584Gc.1750A>GSubstitution - Missense
SEC23AENSG00000100934ENST00000536508p.S30Nc.89G>ASubstitution - Missense
TC2NENSG00000165929ENST00000360594p.V150Mc.448G>ASubstitution - Missense
IL6RENSG00000160712ENST00000368485p.R123Rc.369G>ASubstitution - coding silent
ASH1LENSG00000116539ENST00000392403p.P906Hc.2717C>ASubstitution - Missense
GON4LENSG00000116580ENST00000437809p.K1412Mc.4235A>TSubstitution - Missense
TCF12ENSG00000140262ENST00000438423p.V418Vc.1254C>TSubstitution - coding silent
PTPN7ENSG00000143851ENST00000367279p.N170Nc.510T>CSubstitution - coding silent
PKP1ENSG00000081277ENST00000367324p.?c.1233-9C>TUnknown
DLG2ENSG00000150672ENST00000376104p.A243Ac.729A>GSubstitution - coding silent
KIAA1324ENSG00000116299ENST00000369939p.A552Vc.1655C>TSubstitution - Missense
KIF14ENSG00000118193ENST00000367350p.I678Vc.2032A>GSubstitution - Missense
PRPF3ENSG00000117360ENST00000324862p.?c.277-5C>TUnknown
LEPRE1ENSG00000117385ENST00000296388p.R685Rc.2055G>ASubstitution - coding silent
SIPA1ENSG00000213445ENST00000394224p.L722Lc.2164C>TSubstitution - coding silent
ANO6ENSG00000177119ENST00000425752p.A744Ac.2232T>CSubstitution - coding silent
COX20ENSG00000203667ENST00000411948p.P28Lc.83C>TSubstitution - Missense
SEPHS1ENSG00000086475ENST00000327347p.P34Sc.100C>TSubstitution - Missense
FEN1ENSG00000168496ENST00000305885p.K24Kc.72G>ASubstitution - coding silent
MESDC1ENSG00000140406ENST00000267984p.A199Tc.595G>ASubstitution - Missense
BCCIPENSG00000107949ENST00000278100p.K46Kc.138G>ASubstitution - coding silent
PTPREENSG00000132334ENST00000306042p.L62Lc.184C>TSubstitution - coding silent
SCN8AENSG00000196876ENST00000354534p.Y901Cc.2702A>GSubstitution - Missense
NXPH4ENSG00000182379ENST00000349394p.G206fs*>103c.613delGDeletion - Frameshift
EFEMP1ENSG00000115380ENST00000394554p.G457Rc.1369G>ASubstitution - Missense
GLB1LENSG00000163521ENST00000295759p.L251Hc.752T>ASubstitution - Missense
SLC4A3ENSG00000114923ENST00000273063p.E658Kc.1972G>ASubstitution - Missense
PLXND1ENSG00000004399ENST00000324093p.E1465Kc.4393G>ASubstitution - Missense
EPHA4ENSG00000116106ENST00000281821p.F600Ic.1798T>ASubstitution - Missense
DOCK10ENSG00000135905ENST00000258390p.F211Fc.633C>TSubstitution - coding silent
GREB1ENSG00000196208ENST00000263834p.P308Lc.923C>TSubstitution - Missense
ZP3ENSG00000188372ENST00000336517p.I77Vc.229A>GSubstitution - Missense
CHN2ENSG00000106069ENST00000222792p.A79Tc.235G>ASubstitution - Missense
KATNA1ENSG00000186625ENST00000335647p.V134Ic.400G>ASubstitution - Missense
NDST3ENSG00000164100ENST00000296499p.I27Fc.79A>TSubstitution - Missense
TNFAIP3ENSG00000118503ENST00000237289p.L92Fc.274C>TSubstitution - Missense
PPIP5K2ENSG00000145725ENST00000321521p.D246Yc.736G>TSubstitution - Missense
ASGR1ENSG00000141505ENST00000380920p.G34Sc.100G>ASubstitution - Missense
KAT6AENSG00000083168ENST00000265713p.G983Cc.2947G>TSubstitution - Missense
DEPDC5ENSG00000100150ENST00000400248p.P1431Pc.4293C>TSubstitution - coding silent
NM_007266.1p.N54Nc.162C>TSubstitution - coding silent
DZIP3ENSG00000198919ENST00000361582p.?c.456+1G>AUnknown
MYH15ENSG00000144821ENST00000273353p.E1837Kc.5509G>ASubstitution - Missense
RNF165ENSG00000141622ENST00000269439p.L245Lc.735C>TSubstitution - coding silent
C8orf59ENSG00000176731ENST00000417663p.Q74Qc.222G>ASubstitution - coding silent
PUF60ENSG00000179950ENST00000526683p.P308Pc.924C>TSubstitution - coding silent
NM_147171.1p.L1769Lc.5305C>TSubstitution - coding silent
PHLPP1ENSG00000081913ENST00000262719p.L1188Lc.3564G>ASubstitution - coding silent
TBXAS1ENSG00000059377ENST00000263552p.V301Fc.901G>TSubstitution - Missense
PBRM1ENSG00000163939ENST00000337303p.Y672Cc.2015A>GSubstitution - Missense
PBRM1ENSG00000163939ENST00000296302p.Y672Cc.2015A>GSubstitution - Missense
DCAF4L1ENSG00000182308ENST00000333141p.V208Vc.624C>TSubstitution - coding silent
NM_021628.1p.R133Kc.398G>ASubstitution - Missense
KLF1ENSG00000105610ENST00000264834p.L354Vc.1060C>GSubstitution - Missense
KRTAP12-1ENSG00000187175ENST00000391617p.P37Pc.111C>TSubstitution - coding silent
ACTG1ENSG00000184009ENST00000331925p.Y91Yc.273C>TSubstitution - coding silent
TRAPPC8ENSG00000153339ENST00000283351p.Q1305Qc.3915G>ASubstitution - coding silent
ZNF763ENSG00000197054ENST00000343949p.T353Mc.1058C>TSubstitution - Missense
NM_032682.3p.Y565Cc.1694A>GSubstitution - Missense
SUCLG2ENSG00000172340ENST00000493112p.Q41Pc.122A>CSubstitution - Missense
KIAA1432ENSG00000107036ENST00000381532p.T744Ic.2231C>TSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.V652Vc.1956C>TSubstitution - coding silent
NDRG3ENSG00000101079ENST00000349004p.N245fs*8c.734delADeletion - Frameshift
C9orf3ENSG00000148120ENST00000297979p.Q550*c.1648C>TSubstitution - Nonsense
RBBP8NLENSG00000130701ENST00000252998p.R365Wc.1093C>TSubstitution - Missense
KIAA1614ENSG00000135835ENST00000367588p.G894Rc.2680G>ASubstitution - Missense
CGREF1ENSG00000138028ENST00000260595p.E226Gc.677A>GSubstitution - Missense
SDCBP2ENSG00000125775ENST00000381812p.S66Sc.198C>TSubstitution - coding silent
CADPS2ENSG00000081803ENST00000313070p.S311Fc.932C>TSubstitution - Missense
ENST00000421660p.I247Tc.740T>CSubstitution - Missense
MTHFD1ENSG00000100714ENST00000216605p.G912Sc.2734G>ASubstitution - Missense
OMA1ENSG00000162600ENST00000358603p.L452Fc.1354C>TSubstitution - Missense
TESK2ENSG00000070759ENST00000372086p.P397Lc.1190C>TSubstitution - Missense
ENST00000326910p.L51Ic.151C>ASubstitution - Missense
CDK5RAP2ENSG00000136861ENST00000349780p.K1722Ec.5164A>GSubstitution - Missense
ADCY8ENSG00000155897ENST00000286355p.G518Sc.1552G>ASubstitution - Missense
SCRG1ENSG00000164106ENST00000296506p.H36Nc.106C>ASubstitution - Missense
TNXBENSG00000168477ENST00000375244p.D1297Nc.3889G>ASubstitution - Missense
GRM4ENSG00000124493ENST00000374181p.I677Ic.2031C>ASubstitution - coding silent
LPHN1ENSG00000072071ENST00000340736p.T1472Ic.4415C>TSubstitution - Missense
HPENSG00000257017ENST00000228226p.V204Ec.611T>ASubstitution - Missense
ATP10BENSG00000118322ENST00000327245p.K1389Kc.4167G>ASubstitution - coding silent
ENST00000532298_v68p.?c.121-2A>TUnknown
AHI1ENSG00000135541ENST00000327035p.V1009Ic.3025G>ASubstitution - Missense
IBTKENSG00000005700ENST00000306270p.R735Mc.2204G>TSubstitution - Missense
TRPM6ENSG00000119121ENST00000451710p.?c.3094+8T>AUnknown
LHCGRENSG00000138039ENST00000294954p.L638Lc.1912C>TSubstitution - coding silent
FBN2ENSG00000138829ENST00000262464p.A1880Ac.5640G>ASubstitution - coding silent
ACBD4ENSG00000181513ENST00000431281p.P226Sc.676C>TSubstitution - Missense
ZNF462ENSG00000148143ENST00000457913p.R1148Sc.3444A>TSubstitution - Missense
DSTENSG00000151914ENST00000244364p.D3247Nc.9739G>ASubstitution - Missense
SEMA5AENSG00000112902ENST00000382496p.G3Ec.8G>ASubstitution - Missense
P2RY11ENSG00000244165ENST00000321826p.G25Rc.73G>ASubstitution - Missense
MEF2CENSG00000081189ENST00000437473p.E14Kc.40G>ASubstitution - Missense
SCAPENSG00000114650ENST00000265565p.I96Mc.288A>GSubstitution - Missense
ENST00000305663p.L132Mc.394C>ASubstitution - Missense
AMOTL2ENSG00000114019ENST00000249883p.A677Tc.2029G>ASubstitution - Missense
ZNF43ENSG00000198521ENST00000354959p.S120Gc.358A>GSubstitution - Missense
RASIP1ENSG00000105538ENST00000222145p.D899Dc.2697C>TSubstitution - coding silent
GTF2IRD1ENSG00000006704ENST00000265755p.E133Dc.399G>TSubstitution - Missense
GNB2ENSG00000172354ENST00000303210p.L192Mc.574C>ASubstitution - Missense
TEKENSG00000120156ENST00000380036p.D152Nc.454G>ASubstitution - Missense
TLN1ENSG00000137076ENST00000314888p.N534Sc.1601A>GSubstitution - Missense
MOCS3ENSG00000124217ENST00000244051p.P40Qc.119C>ASubstitution - Missense
KIR2DL3ENSG00000243772ENST00000342376p.?c.371-9C>TUnknown
TTI1ENSG00000101407ENST00000373448p.G136Ec.407G>ASubstitution - Missense
PTOV1ENSG00000104960ENST00000391842p.G416Rc.1246G>ASubstitution - Missense
RAI1ENSG00000108557ENST00000353383p.G1727Gc.5181C>TSubstitution - coding silent
ADAMTS10ENSG00000142303ENST00000270328p.E789Kc.2365G>ASubstitution - Missense
KIAA0586ENSG00000100578ENST00000354386p.S1612Fc.4835C>TSubstitution - Missense
SYTL2ENSG00000137501ENST00000316356p.T187Ic.560C>TSubstitution - Missense
SLC26A9ENSG00000174502ENST00000367135p.K403Kc.1209A>GSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369356p.T2284Ic.6851C>TSubstitution - Missense
RGL1ENSG00000143344ENST00000304685p.V144Mc.430G>ASubstitution - Missense
LRRC23ENSG00000010626ENST00000007969p.D3Nc.7G>ASubstitution - Missense
CCDC64ENSG00000135127ENST00000397558p.R289Rc.867G>ASubstitution - coding silent
SLAMF6ENSG00000162739ENST00000368059p.N280Dc.838A>GSubstitution - Missense
HNRNPUL2ENSG00000214753ENST00000301785p.V561Vc.1683G>ASubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.D3442Dc.10326C>TSubstitution - coding silent
ARHGEF40ENSG00000165801ENST00000298694p.P799Sc.2395C>TSubstitution - Missense
AKAP13ENSG00000170776ENST00000394518p.T1886Ac.5656A>GSubstitution - Missense
CPXM2ENSG00000121898ENST00000241305p.D715Dc.2145C>TSubstitution - coding silent
RERGLENSG00000111404ENST00000229002p.K67Qc.199A>CSubstitution - Missense
SCN8AENSG00000196876ENST00000354534p.P1303Sc.3907C>TSubstitution - Missense
VWFENSG00000110799ENST00000261405p.G1970Sc.5908G>ASubstitution - Missense
ENST00000334646p.C180Cc.540C>TSubstitution - coding silent
PIK3AP1ENSG00000155629ENST00000339364p.I391Ic.1173C>TSubstitution - coding silent
PTENENSG00000171862ENST00000371953p.L25Lc.73T>CSubstitution - coding silent
PTENENSG00000171862ENST00000371953p.L25*c.74T>ASubstitution - Nonsense
NESENSG00000132688ENST00000368223p.?c.783+5G>TUnknown
KRT77ENSG00000189182ENST00000341809p.L409Fc.1225C>TSubstitution - Missense
NM_033667.1p.G470Gc.1410C>TSubstitution - coding silent
RFX4ENSG00000111783ENST00000392842p.?c.934+7A>TUnknown
DMDENSG00000198947ENST00000357033p.K1899fs*2c.5697delADeletion - Frameshift
NM_002912.1p.L2323Lc.6969G>TSubstitution - coding silent
VCANENSG00000038427ENST00000265077p.R1725Mc.5174G>TSubstitution - Missense
LYSMD3ENSG00000176018ENST00000315948p.R105Sc.315G>TSubstitution - Missense
CDK7ENSG00000134058ENST00000256443p.D216Nc.646G>ASubstitution - Missense
RAD17ENSG00000152942ENST00000509734p.?c.731+9C>TUnknown
MAP1BENSG00000131711ENST00000296755p.T1813Ic.5438C>TSubstitution - Missense
ENST00000373550p.V353Vc.1059C>TSubstitution - coding silent
KIAA0556ENSG00000047578ENST00000261588p.A325Tc.973G>ASubstitution - Missense
FAM217AENSG00000145975ENST00000274673p.?c.145+1G>AUnknown
ZNF430ENSG00000118620ENST00000261560p.T275Tc.825C>TSubstitution - coding silent
SRRTENSG00000087087ENST00000347433p.K313Kc.939G>ASubstitution - coding silent
TXNRD3ENSG00000197763ENST00000524230p.A209Tc.625G>ASubstitution - Missense
MEIS1ENSG00000143995ENST00000272369p.G109Rc.325G>ASubstitution - Missense
SEMA5BENSG00000082684ENST00000357599p.H364Hc.1092C>TSubstitution - coding silent
SEMA5BENSG00000082684ENST00000195173p.H364Hc.1092C>TSubstitution - coding silent
E2F6ENSG00000169016ENST00000381525p.Y234Cc.701A>GSubstitution - Missense
PCYT1BENSG00000102230ENST00000379144p.H184Yc.550C>TSubstitution - Missense
RUFY1ENSG00000176783ENST00000319449p.V180Vc.540G>ASubstitution - coding silent
CDH18ENSG00000145526ENST00000507958p.S639Ic.1916G>TSubstitution - Missense
EVX1ENSG00000106038ENST00000496902p.S141Nc.422G>ASubstitution - Missense
CNOT1ENSG00000125107ENST00000317147p.S407Sc.1221C>TSubstitution - coding silent
TET3ENSG00000187605ENST00000409262p.E1465Kc.4393G>ASubstitution - Missense
MTHFD2ENSG00000065911ENST00000394053p.?c.670+1G>AUnknown
LONP1ENSG00000196365ENST00000360614p.E717Kc.2149G>ASubstitution - Missense
LLGL2ENSG00000073350ENST00000392550p.Q22Rc.65A>GSubstitution - Missense
RTCBENSG00000100220ENST00000216038p.G456Ec.1367G>ASubstitution - Missense
NCOA1ENSG00000084676ENST00000406961p.L1366Fc.4096C>TSubstitution - Missense
C20orf96ENSG00000196476ENST00000360321p.?c.566-5C>TUnknown
TXNRD2ENSG00000184470ENST00000400521p.V87Ic.259G>ASubstitution - Missense
METTL8ENSG00000123600ENST00000453846p.V65fs*1c.192delADeletion - Frameshift
ENST00000356127p.G17546Ec.52637G>ASubstitution - Missense
SLC14A1ENSG00000141469ENST00000436407p.P69Lc.206C>TSubstitution - Missense
NINLENSG00000101004ENST00000278886p.L486Lc.1458C>TSubstitution - coding silent
ENST00000278882_v61p.Q146Hc.438G>CSubstitution - Missense
SAMD9ENSG00000205413ENST00000379958p.G952Ec.2855G>ASubstitution - Missense
TRRAPENSG00000196367ENST00000355540p.L1322Lc.3966C>GSubstitution - coding silent
PLECENSG00000178209ENST00000322810p.E2649Kc.7945G>ASubstitution - Missense
TRRAPENSG00000196367ENST00000355540p.R90Qc.269G>ASubstitution - Missense
TCP10L2ENSG00000166984ENST00000366832p.H16Hc.48C>TSubstitution - coding silent
UGT2A3ENSG00000135220ENST00000251566p.K525Ec.1573A>GSubstitution - Missense
NFXL1ENSG00000170448ENST00000381538p.M639Ic.1917G>ASubstitution - Missense
ZNF397ENSG00000186812ENST00000261333p.P179Lc.536C>TSubstitution - Missense
AIREENSG00000160224ENST00000291582p.S64Sc.192C>TSubstitution - coding silent
POLR1AENSG00000068654ENST00000263857p.Y788Yc.2364C>TSubstitution - coding silent
HMHA1ENSG00000180448ENST00000313093p.I916Ic.2748C>TSubstitution - coding silent
POP1ENSG00000104356ENST00000349693p.V562Ic.1684G>ASubstitution - Missense
MICAL2ENSG00000133816ENST00000256194p.H896Hc.2688T>CSubstitution - coding silent
LDB3ENSG00000122367ENST00000361373p.S569Fc.1706C>TSubstitution - Missense
GUK1ENSG00000143774ENST00000366716p.?c.155-5C>TUnknown
ENST00000327303p.V831Ic.2491G>ASubstitution - Missense
LEFTY1ENSG00000243709ENST00000272134p.?c.498-5C>GUnknown
BCAMENSG00000187244ENST00000270233p.D480Yc.1438G>TSubstitution - Missense
SPAG5ENSG00000076382ENST00000321765p.?c.2546+1G>AUnknown
DAZAP1ENSG00000071626ENST00000233078p.P257fs*78c.764delCDeletion - Frameshift
KIAA0895ENSG00000164542ENST00000317020p.L293Lc.879C>TSubstitution - coding silent
RIMS2ENSG00000176406ENST00000339750p.R190Ic.569G>TSubstitution - Missense
ERBB2IPENSG00000112851ENST00000380943p.A916Vc.2747C>TSubstitution - Missense
FUCA2ENSG00000001036ENST00000451668p.V41Gc.122T>GSubstitution - Missense
HLA-AENSG00000206503ENST00000376806p.W23fs*77c.65_66insAGACInsertion - Frameshift
PRMT1ENSG00000126457ENST00000454376p.A109Ac.327C>TSubstitution - coding silent
NINENSG00000100503ENST00000453196p.S27Sc.81C>TSubstitution - coding silent
LPHN2ENSG00000117114ENST00000370715p.T720Sc.2158A>TSubstitution - Missense
ENST00000367531p.V144Mc.430G>ASubstitution - Missense
SLAMF6ENSG00000162739ENST00000368057p.N281Dc.841A>GSubstitution - Missense
TRIM49BENSG00000182053ENST00000332682p.?c.507+7C>TUnknown
DOCK1ENSG00000150760ENST00000280333p.G356Gc.1068G>ASubstitution - coding silent
TTC21BENSG00000123607ENST00000243344p.T178Ic.533C>TSubstitution - Missense
SPTAN1ENSG00000197694ENST00000372731p.L307Lc.919C>TSubstitution - coding silent
TMEM207ENSG00000198398ENST00000354905p.W76*c.228G>ASubstitution - Nonsense
ABCB11ENSG00000073734ENST00000263817p.H1275Yc.3823C>TSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.V309Dc.926T>ASubstitution - Missense
KITENSG00000157404ENST00000288135p.G676Dc.2027G>ASubstitution - Missense
DGKBENSG00000136267ENST00000403951p.S129Fc.386C>TSubstitution - Missense
HIST1H1BENSG00000184357ENST00000331442p.S89Rc.267C>GSubstitution - Missense
VPS13BENSG00000132549ENST00000358544p.P1590Pc.4770C>TSubstitution - coding silent
ABCF2ENSG00000033050ENST00000287844p.D228Dc.684C>TSubstitution - coding silent
KRT13ENSG00000171401ENST00000246635p.D138Dc.414C>TSubstitution - coding silent
CAGE1ENSG00000164304ENST00000502583p.R73Mc.218G>TSubstitution - Missense
GNA13ENSG00000120063ENST00000439174p.?c.561+3A>TUnknown
GNRH1ENSG00000147437ENST00000276414p.G34Ec.101G>ASubstitution - Missense
SLC7A13ENSG00000164893ENST00000297524p.L316Fc.946C>TSubstitution - Missense
RBM12BENSG00000183808ENST00000399300p.P814Hc.2441C>ASubstitution - Missense
KANK1ENSG00000107104ENST00000382293p.L38Lc.114C>TSubstitution - coding silent
ZFP64ENSG00000020256ENST00000216923p.H249Hc.747C>TSubstitution - coding silent
SAP30BPENSG00000161526ENST00000584667p.Y151Cc.452A>GSubstitution - Missense
TGS1ENSG00000137574ENST00000260129p.C357Cc.1071C>TSubstitution - coding silent
CCDC141ENSG00000163492ENST00000343876p.P569Sc.1705C>TSubstitution - Missense
PLD2ENSG00000129219ENST00000263088p.P928Lc.2783C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T438Sc.1312A>TSubstitution - Missense
SGIP1ENSG00000118473ENST00000371037p.R30Kc.89G>ASubstitution - Missense
SPINT1ENSG00000166145ENST00000344051p.?c.1166-4C>TUnknown
RALGAPA1ENSG00000174373ENST00000389698p.V889Mc.2665G>ASubstitution - Missense
MMACHCENSG00000132763ENST00000401061p.P243Sc.727C>TSubstitution - Missense
SLC12A1ENSG00000074803ENST00000380993p.A503Vc.1508C>TSubstitution - Missense
ARHGAP5ENSG00000100852ENST00000345122p.L365Lc.1095G>ASubstitution - coding silent
PKP1ENSG00000081277ENST00000263946p.?c.1296-9C>TUnknown
GON4LENSG00000116580ENST00000437809p.K839Kc.2517G>ASubstitution - coding silent
EID1ENSG00000255302ENST00000530028p.D20Ec.60T>ASubstitution - Missense
NM_004855.3p.P451Sc.1351C>TSubstitution - Missense
SYTL2ENSG00000137501ENST00000359152p.?c.4813-8C>TUnknown
C11orf54ENSG00000182919ENST00000528288p.S221fs*1c.653_654insTInsertion - Frameshift
TMEM132CENSG00000181234ENST00000435159p.E847Kc.2539G>ASubstitution - Missense
EXOSC10ENSG00000171824ENST00000376936p.P595Lc.1784C>TSubstitution - Missense
TPCN1ENSG00000186815ENST00000550785p.A756Tc.2266G>ASubstitution - Missense
EFEMP2ENSG00000172638ENST00000307998p.F224Fc.672C>TSubstitution - coding silent
METTL13ENSG00000010165ENST00000361735p.G25Rc.73G>ASubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.?c.518-1G>AUnknown
PPP1CAENSG00000172531ENST00000312989p.N324Nc.972C>TSubstitution - coding silent
PPP1CAENSG00000172531ENST00000376745p.N313Nc.939C>TSubstitution - coding silent
ENST00000376032_v68p.S193Fc.578C>TSubstitution - Missense
AKAP13ENSG00000170776ENST00000361243p.E323Kc.967G>ASubstitution - Missense
C12orf66ENSG00000174206ENST00000398055p.L122Lc.366T>CSubstitution - coding silent
OBSCNENSG00000154358ENST00000284548p.G4812Sc.14434G>ASubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.P3296Lc.9887C>TSubstitution - Missense
FCRL3ENSG00000160856ENST00000368184p.I668Ic.2004C>TSubstitution - coding silent
BCANENSG00000132692ENST00000361588p.T558Ic.1673C>TSubstitution - Missense
DHX8ENSG00000067596ENST00000262415p.H1036Hc.3108C>TSubstitution - coding silent
DSTENSG00000151914ENST00000370765p.S2649Fc.7946C>TSubstitution - Missense
CSNK1EENSG00000213923ENST00000403904p.P364Sc.1090C>TSubstitution - Missense
NM_002912.1p.E1852Gc.5555A>GSubstitution - Missense
DSTENSG00000151914ENST00000370769p.D5661Nc.16981G>ASubstitution - Missense
ASCC3ENSG00000112249ENST00000369162p.A1279Tc.3835G>ASubstitution - Missense
TGM4ENSG00000163810ENST00000296125p.A348Ac.1044T>GSubstitution - coding silent
BRPF3ENSG00000096070ENST00000357641p.T376Ac.1126A>GSubstitution - Missense
DNAJC13ENSG00000138246ENST00000260818p.A2005Vc.6014C>TSubstitution - Missense
ITGALENSG00000005844ENST00000356798p.E476Kc.1426G>ASubstitution - Missense
NAPEPLDENSG00000161048ENST00000341533p.P68Sc.202C>TSubstitution - Missense
MRPS10ENSG00000048544ENST00000053468p.?c.113+8T>CUnknown
SLC12A8ENSG00000221955ENST00000393469p.A243Vc.728C>TSubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.V847Dc.2540T>ASubstitution - Missense
PTPRNENSG00000054356ENST00000295718p.P480Lc.1439C>TSubstitution - Missense
PLEKHA8ENSG00000106086ENST00000396257p.?c.1363-1G>TUnknown
ROCK2ENSG00000134318ENST00000315872p.Q798Hc.2394A>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.?c.23020-3T>CUnknown
ADD2ENSG00000075340ENST00000355733p.G198Sc.592G>ASubstitution - Missense
C2orf78ENSG00000187833ENST00000409561p.A400Ac.1200C>TSubstitution - coding silent
DHX36ENSG00000174953ENST00000496811p.G32Sc.94G>ASubstitution - Missense
IGSF10ENSG00000152580ENST00000282466p.M2275Vc.6823A>GSubstitution - Missense
ALMS1ENSG00000116127ENST00000264448p.K3949fs*42c.11841delADeletion - Frameshift
RANBP2ENSG00000153201ENST00000283195p.F1099Fc.3297C>TSubstitution - coding silent
CENPEENSG00000138778ENST00000265148p.?c.6522+1G>AUnknown
TRMT61BENSG00000171103ENST00000306108p.C376Sc.1126T>ASubstitution - Missense
CADENSG00000084774ENST00000264705p.S2108Sc.6324C>TSubstitution - coding silent
NLRP12ENSG00000142405ENST00000324134p.A346Ac.1038T>ASubstitution - coding silent
ZGPATENSG00000197114ENST00000328969p.R439Kc.1316G>ASubstitution - Missense
CREBBPENSG00000005339ENST00000262367p.Q790*c.2368C>TSubstitution - Nonsense
SLC5A2ENSG00000140675ENST00000330498p.V435Ac.1304T>CSubstitution - Missense
FANCD2ENSG00000144554ENST00000287647p.L138Lc.414G>ASubstitution - coding silent
FANCD2ENSG00000144554ENST00000287647p.F386Lc.1156T>CSubstitution - Missense
ENST00000356127p.G25716Ec.77147G>ASubstitution - Missense
GAB4ENSG00000215568ENST00000400588p.S501Fc.1502C>TSubstitution - Missense
DNMT3BENSG00000088305ENST00000201963p.?c.30+7G>AUnknown
PREX2ENSG00000046889ENST00000288368p.V1266Ic.3796G>ASubstitution - Missense
LRRD1ENSG00000240720ENST00000458448p.L752Qc.2255T>ASubstitution - Missense
NCOA2ENSG00000140396ENST00000452400p.S1368Sc.4104C>TSubstitution - coding silent
CISHENSG00000114737ENST00000348721p.L37*c.110T>ASubstitution - Nonsense
KRT85ENSG00000135443ENST00000257901p.?c.1078-10C>TUnknown
ABCC9ENSG00000069431ENST00000261201p.?c.1659+7C>TUnknown
PTPRJENSG00000149177ENST00000418331p.C1039Yc.3116G>ASubstitution - Missense
FAM118BENSG00000197798ENST00000533050p.R119Qc.356G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.V6792Vc.20376G>ASubstitution - coding silent
CCT3ENSG00000163468ENST00000295688p.A468Vc.1403C>TSubstitution - Missense
GPRIN2ENSG00000204175ENST00000374317p.S99Sc.297C>TSubstitution - coding silent
ITPKBENSG00000143772ENST00000429204p.P243Pc.729T>ASubstitution - coding silent
CDC42BPAENSG00000143776ENST00000334218p.?c.4634+4G>AUnknown
NLKENSG00000087095ENST00000407008p.F192fs*30c.570delTDeletion - Frameshift
PCLOENSG00000186472ENST00000423517p.P2284Sc.6850C>TSubstitution - Missense
TAF1ENSG00000147133ENST00000449580p.D23Dc.69C>TSubstitution - coding silent
PCDHA5ENSG00000204965ENST00000529619p.L78Lc.234G>ASubstitution - coding silent
CDKL3ENSG00000006837ENST00000435240p.Q89Ec.265C>GSubstitution - Missense
DMGDHENSG00000132837ENST00000380311p.G397Ec.1190G>ASubstitution - Missense
MYBENSG00000118513ENST00000316528p.E446fs*6c.1334_1335insAInsertion - Frameshift
TTC29ENSG00000137473ENST00000513335p.K92Nc.276G>TSubstitution - Missense
KIR2DL3ENSG00000243772ENST00000434419p.?c.371-9C>TUnknown
SIGIRRENSG00000185187ENST00000382520p.E158Kc.472G>ASubstitution - Missense
NDRG1ENSG00000104419ENST00000323851p.?c.594+1G>AUnknown
PPIGENSG00000138398ENST00000260970p.E38Vc.113A>TSubstitution - Missense
VPS8ENSG00000156931ENST00000437079p.?c.2715-4C>TUnknown
ZSWIM3ENSG00000132801ENST00000454862p.G666Dc.1997G>ASubstitution - Missense
NEBENSG00000183091ENST00000409198p.?c.12016-5T>CUnknown
MTMR1ENSG00000063601ENST00000451863p.A63Ac.189T>GSubstitution - coding silent
SAMD4BENSG00000179134ENST00000314471p.R169Cc.505C>TSubstitution - Missense
HLA-BENSG00000234745ENST00000412585p.Q250Ec.748C>GSubstitution - Missense
HLA-BENSG00000234745ENST00000412585p.Q56*c.166C>TSubstitution - Nonsense
DDX19BENSG00000157349ENST00000288071p.G416Ec.1247G>ASubstitution - Missense
RNGTTENSG00000111880ENST00000369485p.P118Sc.352C>TSubstitution - Missense
NM_014209.1p.G67Gc.201G>ASubstitution - coding silent
TRRAPENSG00000196367ENST00000359863p.D829Ec.2487T>ASubstitution - Missense
HIST1H1AENSG00000124610ENST00000244573p.A210Ac.630G>ASubstitution - coding silent
PDS5AENSG00000121892ENST00000303538p.D1114Dc.3342C>TSubstitution - coding silent
GABRG1ENSG00000163285ENST00000295452p.V299Vc.897G>ASubstitution - coding silent
NM_032217.3p.S2382Sc.7146A>CSubstitution - coding silent
LONP2ENSG00000102910ENST00000285737p.G794Rc.2380G>ASubstitution - Missense
UGT2A3ENSG00000135220ENST00000251566p.Y225Cc.674A>GSubstitution - Missense
POLR1AENSG00000068654ENST00000263857p.E1343fs*6c.4027_4028insGInsertion - Frameshift
KRTAP10-11ENSG00000243489ENST00000334670p.I202Ic.606C>TSubstitution - coding silent
SMCHD1ENSG00000101596ENST00000320876p.S817fs*41c.2446delTDeletion - Frameshift
SETBP1ENSG00000152217ENST00000282030p.G1180Cc.3538G>TSubstitution - Missense
SLC14A2ENSG00000132874ENST00000255226p.?c.521+3G>AUnknown
ENST00000411702p.E72Kc.214G>ASubstitution - Missense
BAIAP2ENSG00000175866ENST00000435091p.A513Ac.1539C>TSubstitution - coding silent
RNF213ENSG00000173821ENST00000319921p.N921Ic.2762A>TSubstitution - Missense
ENST00000411702p.N970Ic.2909A>TSubstitution - Missense
DTNAENSG00000134769ENST00000444659p.?c.1265+5G>AUnknown
MAPK7ENSG00000166484ENST00000308406p.?c.2164-1G>AUnknown
ITIH3ENSG00000162267ENST00000449956p.?c.2261+4A>CUnknown
FZD3ENSG00000104290ENST00000537916p.L222fs*1c.660delTDeletion - Frameshift
SPAG8ENSG00000137098ENST00000340291p.E286Kc.856G>ASubstitution - Missense
IGLON5ENSG00000142549ENST00000270642p.H59Lc.176A>TSubstitution - Missense
TMSB4XENSG00000205542ENST00000380633p.K17Rc.50A>GSubstitution - Missense
MAPTENSG00000186868ENST00000262410p.S56_E57delSEc.165_170delATCTGADeletion - In frame
LPHN2ENSG00000117114ENST00000370725p.T733Sc.2197A>TSubstitution - Missense
C2CD4BENSG00000205502ENST00000380392p.V329Ac.986T>CSubstitution - Missense
NINENSG00000100503ENST00000382041p.S27Sc.81C>TSubstitution - coding silent
RUSC1ENSG00000160753ENST00000368347p.A304Ac.912T>CSubstitution - coding silent
SLC41A1ENSG00000133065ENST00000367137p.L456Vc.1366C>GSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369354p.T2284Ic.6851C>TSubstitution - Missense
ZMYND11ENSG00000015171ENST00000558098p.G110Vc.329G>TSubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.?c.12208+1G>AUnknown
DNALI1ENSG00000163879ENST00000296218p.E273Ec.819A>GSubstitution - coding silent
DDR2ENSG00000162733ENST00000367922p.L792Lc.2376G>ASubstitution - coding silent
SIPA1ENSG00000213445ENST00000394224p.E976Kc.2926G>ASubstitution - Missense
COL2A1ENSG00000139219ENST00000380518p.P133Lc.398C>TSubstitution - Missense
TACC2ENSG00000138162ENST00000453444p.K2132*c.6394A>TSubstitution - Nonsense
NHLRC2ENSG00000196865ENST00000369301p.C716Rc.2146T>CSubstitution - Missense
CNTFENSG00000242689ENST00000361987p.R171Kc.512G>ASubstitution - Missense
THRSPENSG00000151365ENST00000281030p.G91Ec.272G>ASubstitution - Missense
RBM43ENSG00000184898ENST00000331426p.N147Sc.440A>GSubstitution - Missense
TANC1ENSG00000115183ENST00000263635p.D1327Gc.3980A>GSubstitution - Missense
ZNF75DENSG00000186376ENST00000370766p.G62Ec.185G>ASubstitution - Missense
PAPOLBENSG00000218823ENST00000404991p.Q87*c.259C>TSubstitution - Nonsense
ENST00000309900p.V357Lc.1069G>CSubstitution - Missense
L1CAMENSG00000198910ENST00000370060p.T996Tc.2988C>TSubstitution - coding silent
PCDHA1ENSG00000204970ENST00000378133p.Y460Cc.1379A>GSubstitution - Missense
RAD51DENSG00000185379ENST00000394589p.T256Tc.768C>TSubstitution - coding silent
MANEAENSG00000172469ENST00000358812p.R253Rc.759G>ASubstitution - coding silent
PLEKHG4BENSG00000153404ENST00000283426p.?c.410-1G>AUnknown
FCN1ENSG00000085265ENST00000371806p.L50Lc.150C>ASubstitution - coding silent
SEC16AENSG00000148396ENST00000313050p.S949Nc.2846G>ASubstitution - Missense
REV3LENSG00000009413ENST00000358835p.E1593fs*18c.4771_4772insAInsertion - Frameshift
ANKRD12ENSG00000101745ENST00000262126p.T897fs*26c.2683delADeletion - Frameshift
FYCO1ENSG00000163820ENST00000296137p.N1001Sc.3002A>GSubstitution - Missense
GIGYF1ENSG00000146830ENST00000275732p.D947Dc.2841C>TSubstitution - coding silent
UBR2ENSG00000024048ENST00000372903p.V286Ic.856G>ASubstitution - Missense
PRR14ENSG00000156858ENST00000300835p.D212Nc.634G>ASubstitution - Missense
USP49ENSG00000164663ENST00000373006p.A13Vc.38C>TSubstitution - Missense
PRPF4BENSG00000112739ENST00000337659p.M639Ic.1917G>ASubstitution - Missense
BIN1ENSG00000136717ENST00000259238p.E84Ec.252G>ASubstitution - coding silent
ITM2CENSG00000135916ENST00000326427p.N223Sc.668A>GSubstitution - Missense
PSME4ENSG00000068878ENST00000404125p.?c.5264-8C>TUnknown
SCML2ENSG00000102098ENST00000251900p.E36Kc.106G>ASubstitution - Missense
XM_051221.5p.Q1480Pc.4439A>CSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.P2284Sc.6850C>TSubstitution - Missense
PLEKHG4BENSG00000153404ENST00000283426p.K1163Kc.3489G>ASubstitution - coding silent
IGF2RENSG00000197081ENST00000356956p.V1214Mc.3640G>ASubstitution - Missense
IFT80ENSG00000068885ENST00000326448p.P231Ac.691C>GSubstitution - Missense
ZNF324BENSG00000249471ENST00000336614p.L276Lc.828A>GSubstitution - coding silent
LAMTOR3ENSG00000109270ENST00000499666p.K12fs*79c.35delADeletion - Frameshift
MYH2ENSG00000125414ENST00000245503p.A324Vc.971C>TSubstitution - Missense
ITGADENSG00000156886ENST00000389202p.R827Rc.2479C>ASubstitution - coding silent
ZNF841ENSG00000197608ENST00000359973p.R220Qc.659G>ASubstitution - Missense
PASKENSG00000115687ENST00000234040p.A597Tc.1789G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.A17589Tc.52765G>ASubstitution - Missense
RAB27BENSG00000041353ENST00000262094p.Q105Qc.315G>ASubstitution - coding silent
ID1ENSG00000125968ENST00000376112p.A141Tc.421G>ASubstitution - Missense
LRRCC1ENSG00000133739ENST00000360375p.T804Tc.2412A>TSubstitution - coding silent
DKK3ENSG00000050165ENST00000396505p.T28Ic.83C>TSubstitution - Missense
RAD51BENSG00000182185ENST00000488612p.T299Ic.896C>TSubstitution - Missense
HEATR4ENSG00000187105ENST00000553558p.T321Tc.963G>ASubstitution - coding silent
SLC22A15ENSG00000163393ENST00000369503p.R365Rc.1095G>ASubstitution - coding silent
MPLENSG00000117400ENST00000372470p.I161Ic.483C>TSubstitution - coding silent
RITA1ENSG00000139405ENST00000549621p.R196Rc.588G>ASubstitution - coding silent
ENST00000271263p.W232*c.695G>ASubstitution - Nonsense
PIK3C2AENSG00000011405ENST00000265970p.K1227Kc.3681G>ASubstitution - coding silent
STAB2ENSG00000136011ENST00000388887p.S35Pc.103T>CSubstitution - Missense
SU_LRRK2p.E2523Kc.7567G>ASubstitution - Missense
FAM111BENSG00000189057ENST00000343597p.C212Yc.635G>ASubstitution - Missense
TMTC2ENSG00000179104ENST00000321196p.T18Tc.54C>TSubstitution - coding silent
YOD1ENSG00000180667ENST00000315927p.L283Pc.848T>CSubstitution - Missense
MYCBP2ENSG00000005810ENST00000407578p.G3221Dc.9662G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S7713fs*5c.23136delCDeletion - Frameshift
NM_015024.2p.R558Cc.1672C>TSubstitution - Missense
TSC1ENSG00000165699ENST00000298552p.D658Dc.1974C>TSubstitution - coding silent
ART3ENSG00000156219ENST00000355810p.?c.1036+2T>CUnknown
ADHFE1ENSG00000147576ENST00000379385p.R55Kc.164G>ASubstitution - Missense
CNKSR2ENSG00000149970ENST00000279451p.G575Gc.1725C>TSubstitution - coding silent
ZNF483ENSG00000173258ENST00000358151p.G106Ec.317G>ASubstitution - Missense
MAGEB16ENSG00000189023ENST00000399992p.A344Tc.1030G>ASubstitution - Missense
RGPD4ENSG00000196862ENST00000354986p.E1693fs*21c.5079_5081AAT>TAComplex - frameshift
ATXN2LENSG00000168488ENST00000340394p.Q859Qc.2577G>ASubstitution - coding silent
DOCK7ENSG00000116641ENST00000251157p.E1623Kc.4867G>ASubstitution - Missense
CDC42BPAENSG00000143776ENST00000366765p.?c.4673+4G>AUnknown
PAPPAENSG00000182752ENST00000328252p.L405Fc.1213C>TSubstitution - Missense
FNBP1ENSG00000187239ENST00000420781p.S349Tc.1045T>ASubstitution - Missense
ABCC5ENSG00000114770ENST00000334444p.A350Sc.1048G>TSubstitution - Missense
CCDC173ENSG00000154479ENST00000447353p.K233Rc.698A>GSubstitution - Missense
RING1ENSG00000204227ENST00000374656p.S211fs*3c.625delGDeletion - Frameshift
NOTCH4ENSG00000204301ENST00000375023p.H1639Hc.4917C>TSubstitution - coding silent
ZSWIM4ENSG00000132003ENST00000254323p.A956Tc.2866G>ASubstitution - Missense
ENST00000404496p.?c.768+10G>AUnknown
ZNF808ENSG00000198482ENST00000359798p.V694Ec.2081T>ASubstitution - Missense
ADCY9ENSG00000162104ENST00000294016p.Q191Qc.573G>ASubstitution - coding silent
ZNF841ENSG00000197608ENST00000389534p.S834Lc.2501C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.A11284Tc.33850G>ASubstitution - Missense
NM_003319p.A11092Tc.33274G>ASubstitution - Missense
ACSS1ENSG00000154930ENST00000323482p.Y87Yc.261C>TSubstitution - coding silent
EPB41L3ENSG00000082397ENST00000341928p.V1040Ic.3118G>ASubstitution - Missense
STAU2ENSG00000040341ENST00000521210p.D97Dc.291C>TSubstitution - coding silent
TONSLENSG00000160949ENST00000409379p.?c.3560-405_3638del484Unknown
TRRAPENSG00000196367ENST00000355540p.D829Ec.2487T>ASubstitution - Missense
GLYCTKENSG00000168237ENST00000436784p.F483Fc.1449C>TSubstitution - coding silent
NM_016507p.G15Ec.44G>ASubstitution - Missense
DTHD1ENSG00000197057ENST00000456874p.S317*c.950C>GSubstitution - Nonsense
OXTRENSG00000180914ENST00000316793p.A237Ac.711A>GSubstitution - coding silent
ENSG00000105520ENST00000591608p.R309Qc.926G>ASubstitution - Missense
GAREMENSG00000141441ENST00000269209p.C137Fc.410G>TSubstitution - Missense
CHMP3ENSG00000115561ENST00000263856p.A82Ac.246A>GSubstitution - coding silent
UNCXENSG00000164853ENST00000316333p.G114Dc.341G>ASubstitution - Missense
ENST00000448615_v68p.H82Hc.246C>TSubstitution - coding silent
FLNBENSG00000136068ENST00000490882p.?c.293-6C>TUnknown
USP36ENSG00000055483ENST00000312010p.A981Tc.2941G>ASubstitution - Missense
LGALS3BPENSG00000108679ENST00000262776p.R215Lc.644G>TSubstitution - Missense
NTF4ENSG00000225950ENST00000301411p.G81Ec.242G>ASubstitution - Missense
TRIP10ENSG00000125733ENST00000313244p.R222Hc.665G>ASubstitution - Missense
UTP14AENSG00000156697ENST00000394422p.D623Nc.1867G>ASubstitution - Missense
TM4SF5ENSG00000142484ENST00000270560p.G71Gc.213G>ASubstitution - coding silent
TIPINENSG00000075131ENST00000261881p.T298Ic.893C>TSubstitution - Missense
SPTBENSG00000070182ENST00000389722p.?c.1795+7C>GUnknown
VPS13CENSG00000129003ENST00000395896p.G76Ec.227G>ASubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.L1845Lc.5535C>TSubstitution - coding silent
PLEK2ENSG00000100558ENST00000216446p.R42Qc.125G>ASubstitution - Missense
SU_LRRK1p.F1059fs*32c.3173delTDeletion - Frameshift
ATL1ENSG00000198513ENST00000358385p.K330Kc.990G>ASubstitution - coding silent
ILF2ENSG00000143621ENST00000361891p.F34Fc.102C>TSubstitution - coding silent
DLG2ENSG00000150672ENST00000418306p.A87Ac.261A>GSubstitution - coding silent
NAV1ENSG00000134369ENST00000367296p.K1523Kc.4569G>ASubstitution - coding silent
ZCCHC8ENSG00000033030ENST00000336229p.P245Lc.734C>TSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.L4121Fc.12361C>TSubstitution - Missense
PLA2G4AENSG00000116711ENST00000367466p.G654Sc.1960G>ASubstitution - Missense
PSMD2ENSG00000175166ENST00000310118p.M788Vc.2362A>GSubstitution - Missense
VPS8ENSG00000156931ENST00000437079p.P333Sc.997C>TSubstitution - Missense
ADAMTS6ENSG00000049192ENST00000381055p.S579Sc.1737C>TSubstitution - coding silent
GALNT7ENSG00000109586ENST00000265000p.G589Ec.1766G>ASubstitution - Missense
DNPH1ENSG00000112667ENST00000393987p.S123Fc.368C>TSubstitution - Missense
INTS1ENSG00000164880ENST00000389470p.F324Fc.972C>TSubstitution - coding silent
SPECC1LENSG00000100014ENST00000314328p.T717Ic.2150C>TSubstitution - Missense
MYL7ENSG00000106631ENST00000223364p.A18Tc.52G>ASubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.P559Lc.1676C>TSubstitution - Missense
ZNF479ENSG00000185177ENST00000331162p.K161Kc.483A>GSubstitution - coding silent
DDX19BENSG00000157349ENST00000288071p.G416Ec.1247G>ASubstitution - Missense
FAM114A2ENSG00000055147ENST00000351797p.T345Ic.1034C>TSubstitution - Missense
PCDHB4ENSG00000081818ENST00000194152p.R64Pc.191G>CSubstitution - Missense
TUBD1ENSG00000108423ENST00000325752p.I222Ic.666C>TSubstitution - coding silent
HKR1ENSG00000181666ENST00000324411p.R377Kc.1130G>ASubstitution - Missense
CEBPZENSG00000115816ENST00000234170p.N375Hc.1123A>CSubstitution - Missense
CCT6BENSG00000132141ENST00000314144p.V22Vc.66C>GSubstitution - coding silent
NLGN1ENSG00000169760ENST00000457714p.D251Dc.753C>TSubstitution - coding silent
MED22ENSG00000148297ENST00000344469p.R114Wc.340C>TSubstitution - Missense
SRSF1ENSG00000136450ENST00000258962p.?c.194+5G>TUnknown
REV3LENSG00000009413ENST00000358835p.E1930Gc.5789A>GSubstitution - Missense
NM_002912.1p.E1515fs*18c.4537_4538insAInsertion - Frameshift
DNMT1ENSG00000130816ENST00000340748p.E610Ec.1830G>ASubstitution - coding silent
RGMBENSG00000174136ENST00000308234p.E174Kc.520G>ASubstitution - Missense
CELSR3ENSG00000008300ENST00000164024p.G600Gc.1800C>TSubstitution - coding silent
ENST00000317082p.E417Kc.1249G>ASubstitution - Missense
SPOPLENSG00000144228ENST00000280098p.?c.200+6A>GUnknown
XPO6ENSG00000169180ENST00000304658p.L256Lc.768C>TSubstitution - coding silent
ARHGEF4ENSG00000136002ENST00000392953p.Y398Yc.1194C>TSubstitution - coding silent
SLC12A8ENSG00000221955ENST00000393469p.A281Vc.842C>TSubstitution - Missense
CLASP1ENSG00000074054ENST00000263710p.S1232fs*1c.3685_3686insGInsertion - Frameshift
IRS1ENSG00000169047ENST00000305123p.S686_N687insSc.2036_2037insCAGInsertion - In frame
RUFY1ENSG00000176783ENST00000437570p.?c.632+9C>TUnknown
STXBP5ENSG00000164506ENST00000321680p.S137Pc.409T>CSubstitution - Missense
MTHFD2ENSG00000065911ENST00000394050p.?c.364+1G>AUnknown
GGA3ENSG00000125447ENST00000245541p.Q416*c.1246C>TSubstitution - Nonsense
SUSD5ENSG00000173705ENST00000309558p.D396Nc.1186G>ASubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.?c.1213-1G>TUnknown
AFF1ENSG00000172493ENST00000395146p.S290Nc.869G>ASubstitution - Missense
DMP1ENSG00000152592ENST00000339673p.P419Lc.1256C>TSubstitution - Missense
FILIP1LENSG00000168386ENST00000331335p.Q106Rc.317A>GSubstitution - Missense
SDCCAG8ENSG00000054282ENST00000366541p.G280Rc.838G>CSubstitution - Missense
RAD9AENSG00000172613ENST00000307980p.P339Lc.1016C>TSubstitution - Missense
PARP2ENSG00000129484ENST00000250416p.?c.640-1G>TUnknown
AP1G2ENSG00000213983ENST00000397120p.D43Dc.129C>TSubstitution - coding silent
FOLR2ENSG00000165457ENST00000298223p.R119Cc.355C>TSubstitution - Missense
FMNL3ENSG00000161791ENST00000335154p.Q737*c.2209C>TSubstitution - Nonsense
ARHGEF25ENSG00000240771ENST00000286494p.E129Kc.385G>ASubstitution - Missense
PDE3AENSG00000172572ENST00000359062p.V295Vc.885C>TSubstitution - coding silent
ESAMENSG00000149564ENST00000278927p.R28Rc.84G>ASubstitution - coding silent
CR1LENSG00000197721ENST00000508064p.P343Lc.1028C>TSubstitution - Missense
ITGB1ENSG00000150093ENST00000396033p.G470Gc.1410C>TSubstitution - coding silent
TP53BP2ENSG00000143514ENST00000343537p.A267Tc.799G>ASubstitution - Missense
YOD1ENSG00000180667ENST00000367084p.D225Hc.673G>CSubstitution - Missense
DTX1ENSG00000135144ENST00000257600p.Q68Qc.204G>ASubstitution - coding silent
TRIM13ENSG00000204977ENST00000420995p.L322Fc.964C>TSubstitution - Missense
LYSTENSG00000143669ENST00000389793p.Y1976Cc.5927A>GSubstitution - Missense
C17orf104ENSG00000180336ENST00000409122p.P216Tc.646C>ASubstitution - Missense
GNA13ENSG00000120063ENST00000439174p.Q27*c.79C>TSubstitution - Nonsense
DGKBENSG00000136267ENST00000258767p.S129Fc.386C>TSubstitution - Missense
SQLEENSG00000104549ENST00000265896p.H384Yc.1150C>TSubstitution - Missense
TRPM6ENSG00000119121ENST00000449912p.K1080Qc.3238A>CSubstitution - Missense
SNX24ENSG00000064652ENST00000513881p.L128Lc.382C>TSubstitution - coding silent
SRSF1ENSG00000136450ENST00000582730p.?c.194+5G>TUnknown
TERF2ENSG00000132604ENST00000567296p.F59Lc.175T>CSubstitution - Missense
DOCK10ENSG00000135905ENST00000409592p.F205Fc.615C>TSubstitution - coding silent
TTLL3ENSG00000214021ENST00000426895p.D402Dc.1206C>TSubstitution - coding silent
ZNF628ENSG00000197483ENST00000598519p.K43Kc.129G>ASubstitution - coding silent
SLC12A6ENSG00000140199ENST00000397707p.?c.1898+5G>AUnknown
SPEGENSG00000072195ENST00000396688p.R66Rc.198C>ASubstitution - coding silent
GUK1ENSG00000143774ENST00000366728p.?c.218-5C>TUnknown
ITPKBENSG00000143772ENST00000366784p.S252Pc.754T>CSubstitution - Missense
XPO7ENSG00000130227ENST00000434536p.R567Cc.1699C>TSubstitution - Missense
PWWP2BENSG00000171813ENST00000368609p.S271Fc.812C>TSubstitution - Missense
USP54ENSG00000166348ENST00000319786p.G10Gc.30G>ASubstitution - coding silent
LRP2ENSG00000081479ENST00000263816p.Y2110Sc.6329A>CSubstitution - Missense
AAR2ENSG00000131043ENST00000373932p.H59Hc.177C>TSubstitution - coding silent
PIGOENSG00000165282ENST00000378617p.R811Rc.2433G>ASubstitution - coding silent
ENST00000456956p.R346Gc.1036A>GSubstitution - Missense
UBE2OENSG00000175931ENST00000319380p.R1237Rc.3711G>ASubstitution - coding silent
ARHGEF18ENSG00000104880ENST00000359920p.P757Pc.2271C>TSubstitution - coding silent
MYBL1ENSG00000185697ENST00000522677p.?c.868-7C>TUnknown
ACADLENSG00000115361ENST00000233710p.W79*c.237G>ASubstitution - Nonsense
PDE7AENSG00000205268ENST00000401827p.T426Ic.1277C>TSubstitution - Missense
KIF16BENSG00000089177ENST00000408042p.Q1020Qc.3060G>ASubstitution - coding silent
SKOR1ENSG00000188779ENST00000389002p.I26Ic.78T>CSubstitution - coding silent
RPL4ENSG00000174444ENST00000307961p.I309Tc.926T>CSubstitution - Missense
KIAA1107ENSG00000069712ENST00000370378p.C627Cc.1881C>TSubstitution - coding silent
VPS13CENSG00000129003ENST00000261517p.G76Ec.227G>ASubstitution - Missense
RUSC1ENSG00000160753ENST00000368354p.?c.1815-5C>TUnknown
RUSC1ENSG00000160753ENST00000292254p.?c.408-5C>TUnknown
GON4LENSG00000116580ENST00000437809p.K839Kc.2517G>ASubstitution - coding silent
PLEKHA6ENSG00000143850ENST00000272203p.?c.1674+3G>AUnknown
EP400ENSG00000183495ENST00000389561p.P1498Sc.4492C>TSubstitution - Missense
TNNT2ENSG00000118194ENST00000367322p.?c.570+10G>AUnknown
GPR162ENSG00000250510ENST00000311268p.E503Dc.1509G>TSubstitution - Missense
SOAT1ENSG00000057252ENST00000367619p.A463Vc.1388C>TSubstitution - Missense
CLCC1ENSG00000121940ENST00000369970p.E358Kc.1072G>ASubstitution - Missense
PTPRBENSG00000127329ENST00000334414p.S1126Gc.3376A>GSubstitution - Missense
CRAMP1LENSG00000007545ENST00000436138p.G1256*c.3766G>TSubstitution - Nonsense
ZMYND11ENSG00000015171ENST00000397962p.G110Vc.329G>TSubstitution - Missense
IGF1RENSG00000140443ENST00000268035p.T677Ic.2030C>TSubstitution - Missense
TGM7ENSG00000159495ENST00000452443p.G114Dc.341G>ASubstitution - Missense
LEPRE1ENSG00000117385ENST00000236040p.R685Rc.2055G>ASubstitution - coding silent
GABRA5ENSG00000186297ENST00000335625p.D179Dc.537C>TSubstitution - coding silent
RGS4ENSG00000117152ENST00000421743p.A249Tc.745G>ASubstitution - Missense
ARID2ENSG00000189079ENST00000334344p.V412Mc.1234G>ASubstitution - Missense
MGEA5ENSG00000198408ENST00000361464p.A493Tc.1477G>ASubstitution - Missense
KIAA1598ENSG00000187164ENST00000355371p.S619Nc.1856G>ASubstitution - Missense
MAML3ENSG00000196782ENST00000398940p.V250Mc.748G>ASubstitution - Missense
CLSTN2ENSG00000158258ENST00000458420p.F83Fc.249C>TSubstitution - coding silent
ATXN2LENSG00000168488ENST00000395547p.Q859Qc.2577G>ASubstitution - coding silent
TAOK2ENSG00000149930ENST00000308893p.A233Ac.699C>TSubstitution - coding silent
USP34ENSG00000115464ENST00000398571p.E3335Kc.10003G>ASubstitution - Missense
NM_022824.1p.T233Tc.699A>TSubstitution - coding silent
ZNF256ENSG00000152454ENST00000282308p.G214Rc.640G>ASubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.?c.1213-1G>TUnknown
CHRNA6ENSG00000147434ENST00000276410p.N447Nc.1341T>CSubstitution - coding silent
RNF168ENSG00000163961ENST00000318037p.F40Fc.120C>TSubstitution - coding silent
NFKB1ENSG00000109320ENST00000226574p.Q533Qc.1599G>ASubstitution - coding silent
TOP2BENSG00000077097ENST00000435706p.E1051Kc.3151G>ASubstitution - Missense
PAK2ENSG00000180370ENST00000327134p.P442Lc.1325C>TSubstitution - Missense
NFKBIZENSG00000144802ENST00000326172p.T411Ac.1231A>GSubstitution - Missense
APRTENSG00000198931ENST00000378364p.E158Gc.473A>GSubstitution - Missense
CLK1ENSG00000013441ENST00000434813p.G172Ec.515G>ASubstitution - Missense
NM_003319p.I25179Vc.75535A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.G25718Ec.77153G>ASubstitution - Missense
PUM2ENSG00000055917ENST00000338086p.K210*c.628A>TSubstitution - Nonsense
BPIFB6ENSG00000167104ENST00000349552p.K230Kc.690G>ASubstitution - coding silent
TECPR1ENSG00000205356ENST00000379795p.?c.1035+8C>TUnknown
PEX1ENSG00000127980ENST00000248633p.G266Sc.796G>ASubstitution - Missense
HIST1H2BHENSG00000197459ENST00000356350p.I74Ic.222C>TSubstitution - coding silent
ADAMTS5ENSG00000154736ENST00000284987p.E428Kc.1282G>ASubstitution - Missense
NM_014815.2p.L108Lc.322C>TSubstitution - coding silent
ROBO1ENSG00000169855ENST00000464233p.G1238Dc.3713G>ASubstitution - Missense
RNF213ENSG00000173821ENST00000456466p.E72Kc.214G>ASubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.E1344Kc.4030G>ASubstitution - Missense
ADAMTS9ENSG00000163638ENST00000498707p.C1693Cc.5079T>CSubstitution - coding silent
PPM1DENSG00000170836ENST00000305921p.L538Fc.1614A>TSubstitution - Missense
CALB1ENSG00000104327ENST00000265431p.C219Yc.656G>ASubstitution - Missense
KANK1ENSG00000107104ENST00000382293p.A804Tc.2410G>ASubstitution - Missense
CDC37L1ENSG00000106993ENST00000381854p.G294Ec.881G>ASubstitution - Missense
ENST00000377689p.G38Dc.113G>ASubstitution - Missense
EXOC4ENSG00000131558ENST00000253861p.I956Fc.2866A>TSubstitution - Missense
FAM92A1ENSG00000188343ENST00000518322p.E214Kc.640G>ASubstitution - Missense
CCDC129ENSG00000180347ENST00000451887p.L231Lc.693G>ASubstitution - coding silent
TMEM130ENSG00000166448ENST00000416379p.T77Tc.231C>TSubstitution - coding silent
ENST00000328843_v70p.?c.496-9T>CUnknown
TRPM6ENSG00000119121ENST00000449912p.?c.3079+8T>AUnknown
PLP2ENSG00000102007ENST00000376322p.A92Tc.274G>ASubstitution - Missense
COL21A1ENSG00000124749ENST00000535941p.P827Lc.2480C>TSubstitution - Missense
PDE10AENSG00000112541ENST00000539869p.D312Dc.936C>TSubstitution - coding silent
RUFY1ENSG00000176783ENST00000377001p.?c.956+9C>TUnknown
PLXND1ENSG00000004399ENST00000393239p.E1465Kc.4393G>ASubstitution - Missense
CECR5ENSG00000069998ENST00000155674p.D22Dc.66C>TSubstitution - coding silent
ETV2ENSG00000105672ENST00000402764p.G39Gc.117G>ASubstitution - coding silent
C11orf54ENSG00000182919ENST00000331239p.S271fs*1c.803_804insTInsertion - Frameshift
MYO5AENSG00000197535ENST00000358212p.Q421Qc.1263G>ASubstitution - coding silent
EP400ENSG00000183495ENST00000333577p.P1534Sc.4600C>TSubstitution - Missense
USP47ENSG00000170242ENST00000399455p.G984*c.2950G>TSubstitution - Nonsense
ZNF511ENSG00000198546ENST00000359035p.A173Tc.517G>ASubstitution - Missense
NUP188ENSG00000095319ENST00000372577p.?c.3351+3A>GUnknown
ENST00000345702p.Q72Qc.216G>ASubstitution - coding silent
SETENSG00000119335ENST00000372692p.?c.848_850-3del598Unknown
PRRC2BENSG00000130723ENST00000357304p.D815Dc.2445C>TSubstitution - coding silent
FKBPLENSG00000204315ENST00000375156p.P43Sc.127C>TSubstitution - Missense
ENST00000388903p.R2134Hc.6401G>ASubstitution - Missense
TNXBENSG00000168477ENST00000375247p.I1719Vc.5155A>GSubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.F1807Fc.5421C>TSubstitution - coding silent
RIF1ENSG00000080345ENST00000444746p.S1576Rc.4726A>CSubstitution - Missense
SAGE1ENSG00000181433ENST00000324447p.T235Ic.704C>TSubstitution - Missense
ENST00000377143p.P56Hc.167C>ASubstitution - Missense
DDX19BENSG00000157349ENST00000288071p.P190fs*3c.567delCDeletion - Frameshift
GJB7ENSG00000164411ENST00000525899p.G59Gc.177T>CSubstitution - coding silent
PCDHA5ENSG00000204965ENST00000529859p.L78Lc.234G>ASubstitution - coding silent
KIRREL2ENSG00000126259ENST00000262625p.I466Ic.1398C>ASubstitution - coding silent
CDKL3ENSG00000006837ENST00000265334p.S134Sc.402C>ASubstitution - coding silent
DSEENSG00000111817ENST00000331677p.H4Hc.12C>TSubstitution - coding silent
CAGE1ENSG00000164304ENST00000338150p.R73Mc.218G>TSubstitution - Missense
GCATENSG00000100116ENST00000248924p.K170Kc.510G>ASubstitution - coding silent
CMYA5ENSG00000164309ENST00000446378p.V1995Vc.5985C>TSubstitution - coding silent
POU5F2ENSG00000248483ENST00000510627p.E194Vc.581A>TSubstitution - Missense
ANO10ENSG00000160746ENST00000292246p.Y498Fc.1493A>TSubstitution - 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