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JAR - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1185 mutations reported
370 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
NME7ENSG00000143156ENST00000367811p.S142Sc.426A>GSubstitution - coding silent
NTN4ENSG00000074527ENST00000343702p.H592Nc.1774C>ASubstitution - Missense
GLB1L3ENSG00000166105ENST00000431683p.K387Nc.1161A>CSubstitution - Missense
SLC26A9ENSG00000174502ENST00000367135p.?c.126-9C>TUnknown
RIMBP2ENSG00000060709ENST00000261655p.H736Rc.2207A>GSubstitution - Missense
ATXN7L2ENSG00000162650ENST00000369870p.P310Pc.930C>TSubstitution - coding silent
ZNF609ENSG00000180357ENST00000326648p.V331Lc.991G>TSubstitution - Missense
PAX9ENSG00000198807ENST00000402703p.T199_D200insVTc.598_599insTCACCGInsertion - In frame
CASC1ENSG00000118307ENST00000320267p.L357Lc.1071G>ASubstitution - coding silent
TNS1ENSG00000079308ENST00000171887p.G1325Sc.3973G>ASubstitution - Missense
ANKARENSG00000151687ENST00000520309p.F236Lc.708T>ASubstitution - Missense
SYCE1LENSG00000205078ENST00000378644p.G42Rc.124G>CSubstitution - Missense
ARL4AENSG00000122644ENST00000396662p.T56Tc.168T>ASubstitution - coding silent
FOXD4L3ENSG00000187559ENST00000342833p.C362Yc.1085G>ASubstitution - Missense
NELFCDENSG00000101158ENST00000344018p.E391Kc.1171G>ASubstitution - Missense
SUMO3ENSG00000184900ENST00000332859p.P38Qc.113C>ASubstitution - Missense
PEX1ENSG00000127980ENST00000248633p.G1163Gc.3489A>TSubstitution - coding silent
N4BP2ENSG00000078177ENST00000261435p.F58Ic.172T>ASubstitution - Missense
BCKDKENSG00000103507ENST00000394951p.P66Sc.196C>TSubstitution - Missense
SPATS2LENSG00000196141ENST00000409755p.R510Rc.1528C>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.H2349Dc.7045C>GSubstitution - Missense
MPP2ENSG00000108852ENST00000269095p.R377Lc.1130G>TSubstitution - Missense
SPTBN4ENSG00000160460ENST00000352632p.A1549Vc.4646C>TSubstitution - Missense
LURAP1LENSG00000153714ENST00000319264p.S140Rc.420C>GSubstitution - Missense
KLHL5ENSG00000109790ENST00000381930p.R616Hc.1847G>ASubstitution - Missense
LILRB3ENSG00000204577ENST00000346401p.H409Yc.1225C>TSubstitution - Missense
GPATCH2LENSG00000089916ENST00000556663p.S62Nc.185G>ASubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.A2540Ac.7620T>GSubstitution - coding silent
LRIG3ENSG00000139263ENST00000379141p.A686Sc.2056G>TSubstitution - Missense
PPP1R3AENSG00000154415ENST00000284601p.P86Qc.257C>ASubstitution - Missense
KIF6ENSG00000164627ENST00000538893p.A390Tc.1168G>ASubstitution - Missense
GLOD4ENSG00000167699ENST00000301328p.A193Vc.578C>TSubstitution - Missense
SEC16AENSG00000148396ENST00000398335p.?c.1_26del26Unknown
MRPL39ENSG00000154719ENST00000352957p.G19Rc.55G>CSubstitution - Missense
ENST00000356127p.A23397Dc.70190C>ASubstitution - Missense
TMEM104ENSG00000109066ENST00000335464p.G456Gc.1368G>CSubstitution - coding silent
ENST00000318252p.F317Yc.950T>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.G3365Dc.10094G>ASubstitution - Missense
FAM65AENSG00000039523ENST00000379312p.P489Tc.1465C>ASubstitution - Missense
TBC1D8ENSG00000204634ENST00000409318p.L1113Lc.3337T>CSubstitution - coding silent
DNAJC2ENSG00000105821ENST00000249270p.Y543Yc.1629C>TSubstitution - coding silent
CLDN15ENSG00000106404ENST00000308344p.V5Ac.14T>CSubstitution - Missense
STEAP3ENSG00000115107ENST00000393106p.R233Wc.697C>TSubstitution - Missense
LRFN3ENSG00000126243ENST00000246529p.R265Qc.794G>ASubstitution - Missense
PRRC1ENSG00000164244ENST00000296666p.E311Kc.931G>ASubstitution - Missense
KIAA0922ENSG00000121210ENST00000409959p.V1567Vc.4701C>TSubstitution - coding silent
ZNF479ENSG00000185177ENST00000331162p.D314Nc.940G>ASubstitution - Missense
FGF13ENSG00000129682ENST00000370603p.?c.328+1G>AUnknown
KBTBD2ENSG00000170852ENST00000304056p.E293*c.877G>TSubstitution - Nonsense
RC3H2ENSG00000056586ENST00000373670p.N1027Dc.3079A>GSubstitution - Missense
MEP1AENSG00000112818ENST00000230588p.V688Mc.2062G>ASubstitution - Missense
ENST00000422321p.S78Fc.233C>TSubstitution - Missense
FOXP2ENSG00000128573ENST00000403559p.S25Sc.75C>TSubstitution - coding silent
SCUBE3ENSG00000146197ENST00000394681p.C432Cc.1296C>TSubstitution - coding silent
TP63ENSG00000073282ENST00000354600p.S363Pc.1087T>CSubstitution - Missense
LONP1ENSG00000196365ENST00000360614p.D944Nc.2830G>ASubstitution - Missense
DGKAENSG00000065357ENST00000331886p.H538Yc.1612C>TSubstitution - Missense
PTPROENSG00000151490ENST00000281171p.I1205Ic.3615C>TSubstitution - coding silent
SELEENSG00000007908ENST00000333360p.S553Sc.1659C>ASubstitution - coding silent
MMP20ENSG00000137674ENST00000260228p.M144Vc.430A>GSubstitution - Missense
TMEM62ENSG00000137842ENST00000260403p.?c.1182+4A>TUnknown
CEP128ENSG00000100629ENST00000216517p.R369Tc.1106G>CSubstitution - Missense
BCAS3ENSG00000141376ENST00000390652p.H377Yc.1129C>TSubstitution - Missense
SCN4AENSG00000007314ENST00000435607p.I47Fc.139A>TSubstitution - Missense
KPNA2ENSG00000182481ENST00000330459p.N4Nc.12C>TSubstitution - coding silent
FLNBENSG00000136068ENST00000295956p.E2395Kc.7183G>ASubstitution - Missense
SLC7A13ENSG00000164893ENST00000297524p.T262Sc.784A>TSubstitution - Missense
TOPORSENSG00000197579ENST00000360538p.K760Kc.2280G>ASubstitution - coding silent
PTPRZ1ENSG00000106278ENST00000393386p.?c.5080+8C>AUnknown
SAMD9ENSG00000205413ENST00000379958p.L74Lc.222G>ASubstitution - coding silent
DEF8ENSG00000140995ENST00000268676p.?c.173+9A>CUnknown
MPP4ENSG00000082126ENST00000409474p.A584Vc.1751C>TSubstitution - Missense
NM_003319p.T25963Kc.77888C>ASubstitution - Missense
ST6GAL2ENSG00000144057ENST00000361686p.T392Nc.1175C>ASubstitution - Missense
CASKIN2ENSG00000177303ENST00000321617p.I309Ic.927C>TSubstitution - coding silent
ACOX3ENSG00000087008ENST00000356406p.A516Ec.1547C>ASubstitution - Missense
RTEL1ENSG00000258366ENST00000318100p.?c.1192-1G>TUnknown
LPAR4ENSG00000147145ENST00000435339p.S155Yc.464C>ASubstitution - Missense
EPHB1ENSG00000154928ENST00000398015p.D529Hc.1585G>CSubstitution - Missense
XPCENSG00000154767ENST00000285021p.?c.2033+5G>CUnknown
RELNENSG00000189056ENST00000343529p.K3189*c.9565A>TSubstitution - Nonsense
SEC16AENSG00000148396ENST00000313084p.P80fs*20c.235_272del38Deletion - Frameshift
SEC16AENSG00000148396ENST00000313084p.H18fs*130c.46_72>26Unknown
DPP6ENSG00000130226ENST00000332007p.T357Tc.1071G>TSubstitution - coding silent
CNTNAP2ENSG00000174469ENST00000361727p.G61Dc.182G>ASubstitution - Missense
FARS2ENSG00000145982ENST00000324331p.H203Nc.607C>ASubstitution - Missense
CNTN1ENSG00000018236ENST00000547849p.D167Dc.501T>CSubstitution - coding silent
HDAC4ENSG00000068024ENST00000541256p.L327Lc.981G>TSubstitution - coding silent
RORAENSG00000069667ENST00000449337p.V324Vc.972G>TSubstitution - coding silent
DBHENSG00000123454ENST00000393056p.R296Hc.887G>ASubstitution - Missense
KCNMA1ENSG00000156113ENST00000404857p.H651Nc.1951C>ASubstitution - Missense
MBNL2ENSG00000139793ENST00000345429p.A37Sc.109G>TSubstitution - Missense
CDC14AENSG00000079335ENST00000370124p.E326Gc.977A>GSubstitution - Missense
KCNB2ENSG00000182674ENST00000523207p.T59Mc.176C>TSubstitution - Missense
TUSC3ENSG00000104723ENST00000382020p.R97Wc.289C>TSubstitution - Missense
LRIG3ENSG00000139263ENST00000320743p.A746Sc.2236G>TSubstitution - Missense
FAM118BENSG00000197798ENST00000533050p.?c.340-10C>AUnknown
RIMS2ENSG00000176406ENST00000507740p.F987Lc.2961C>ASubstitution - Missense
GRIA1ENSG00000155511ENST00000285900p.P759Tc.2275C>ASubstitution - Missense
RBKSENSG00000171174ENST00000444339p.V19Ac.56T>CSubstitution - Missense
DNAH7ENSG00000118997ENST00000410072p.S221Sc.663C>TSubstitution - coding silent
ENST00000417177p.P838Tc.2512C>ASubstitution - Missense
FGF13ENSG00000129682ENST00000455663p.?c.346+1G>AUnknown
UBE3BENSG00000151148ENST00000434735p.F570Lc.1710T>GSubstitution - Missense
TUSC3ENSG00000104723ENST00000503731p.R97Wc.289C>TSubstitution - Missense
HPS3ENSG00000163755ENST00000296051p.T591Mc.1772C>TSubstitution - Missense
CHRNA3ENSG00000080644ENST00000326828p.L432Lc.1296G>ASubstitution - coding silent
NBPF10ENSG00000163386ENST00000342960p.Q94Pc.281A>CSubstitution - Missense
CUBNENSG00000107611ENST00000377833p.T1131Ac.3391A>GSubstitution - Missense
FMN1ENSG00000248905ENST00000320930p.S509Lc.1526C>TSubstitution - Missense
KARSENSG00000065427ENST00000319410p.K69Kc.207A>GSubstitution - coding silent
C6ENSG00000039537ENST00000263413p.Q660Kc.1978C>ASubstitution - Missense
MDGA2ENSG00000139915ENST00000426342p.Q457Qc.1371G>ASubstitution - coding silent
SU_WNK2p.F349Lc.1047C>ASubstitution - Missense
PARD3BENSG00000116117ENST00000351153p.S693Sc.2079T>ASubstitution - coding silent
KANSL1ENSG00000120071ENST00000262419p.S847Sc.2541G>ASubstitution - coding silent
DNAH12ENSG00000174844ENST00000351747p.D1367Gc.4100A>GSubstitution - Missense
CES5AENSG00000159398ENST00000319165p.H344Hc.1032C>TSubstitution - coding silent
DOCK6ENSG00000130158ENST00000319867p.S1411Nc.4232G>ASubstitution - Missense
MPP4ENSG00000082126ENST00000409474p.A584Vc.1751C>TSubstitution - Missense
GTF3C3ENSG00000119041ENST00000263956p.?c.2539-7T>CUnknown
TRMT2AENSG00000099899ENST00000404751p.A50Sc.148G>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.L3366Ic.10096C>ASubstitution - Missense
SLC27A5ENSG00000083807ENST00000263093p.E516Ec.1548A>GSubstitution - coding silent
TBC1D8ENSG00000204634ENST00000376840p.L1098Lc.3292T>CSubstitution - coding silent
CATSPERDENSG00000174898ENST00000381624p.I55Fc.163A>TSubstitution - Missense
NM_152632.1p.L135Fc.405G>TSubstitution - Missense
MAGEB6ENSG00000176746ENST00000379034p.R189Cc.565C>TSubstitution - Missense
RGPD8ENSG00000169629ENST00000302558p.K993Qc.2977A>CSubstitution - Missense
UTRNENSG00000152818ENST00000367545p.R843Wc.2527C>TSubstitution - Missense
UNC13AENSG00000130477ENST00000519716p.T708Nc.2123C>ASubstitution - Missense
SEZ6L2ENSG00000174938ENST00000308713p.A496Sc.1486G>TSubstitution - Missense
RAVER1ENSG00000161847ENST00000293677p.H614Hc.1842C>TSubstitution - coding silent
PRUNE2ENSG00000106772ENST00000376718p.S15Nc.44G>ASubstitution - Missense
ZNF594ENSG00000180626ENST00000399604p.T769Tc.2307C>TSubstitution - coding silent
FASTKENSG00000164896ENST00000297532p.C397Sc.1190G>CSubstitution - Missense
PCDHA10ENSG00000250120ENST00000506939p.D375Dc.1125C>TSubstitution - coding silent
ADAP2ENSG00000184060ENST00000330889p.F138Ic.412T>ASubstitution - Missense
COL12A1ENSG00000111799ENST00000322507p.?c.7210+7G>CUnknown
POM121L2ENSG00000158553ENST00000444565p.V617Lc.1849G>CSubstitution - Missense
DPCR1ENSG00000168631ENST00000462446p.Q836Pc.2507A>CSubstitution - Missense
NM_139056.1p.W394*c.1181G>ASubstitution - Nonsense
TMEM59ENSG00000116209ENST00000452421p.D235Vc.704A>TSubstitution - Missense
IFI44ENSG00000137965ENST00000545124p.D19Ec.57C>ASubstitution - Missense
ESYT1ENSG00000139641ENST00000541590p.?c.805-3C>AUnknown
PPP2R1BENSG00000137713ENST00000527614p.?c.844-5T>CUnknown
OR51L1ENSG00000176798ENST00000321543p.D212Yc.634G>TSubstitution - Missense
GAD2ENSG00000136750ENST00000428517p.A72Vc.215C>TSubstitution - Missense
STEAP3ENSG00000115107ENST00000393110p.R243Wc.727C>TSubstitution - Missense
KDELR2ENSG00000136240ENST00000258739p.A144Ac.432C>TSubstitution - coding silent
EFTUD1ENSG00000140598ENST00000268206p.Y529*c.1587C>ASubstitution - Nonsense
PAHENSG00000171759ENST00000553106p.R68Sc.204A>TSubstitution - Missense
NPAS3ENSG00000151322ENST00000356141p.E29Ac.86A>CSubstitution - Missense
PYGO2ENSG00000163348ENST00000368457p.G297Ac.890G>CSubstitution - Missense
DNAH10ENSG00000197653ENST00000409039p.P4408Pc.13224G>TSubstitution - coding silent
ERBB4ENSG00000178568ENST00000342788p.L1285Pc.3854T>CSubstitution - Missense
ENST00000389700p.R254Kc.761G>ASubstitution - Missense
NELFCDENSG00000101158ENST00000344018p.E521Dc.1563G>CSubstitution - Missense
ZNF442ENSG00000198342ENST00000242804p.E489Dc.1467G>TSubstitution - Missense
TEKENSG00000120156ENST00000380036p.D823Ec.2469C>ASubstitution - Missense
HIST1H1TENSG00000187475ENST00000338379p.K154Kc.462G>ASubstitution - coding silent
WDR54ENSG00000005448ENST00000348227p.V213Vc.639T>GSubstitution - coding silent
ENST00000279593p.F642Fc.1926C>TSubstitution - coding silent
C11orf63ENSG00000109944ENST00000227349p.R37Wc.109C>TSubstitution - Missense
LRRC63ENSG00000173988ENST00000446175p.Q215Lc.644A>TSubstitution - Missense
RAPGEF3ENSG00000079337ENST00000449771p.V600Mc.1798G>ASubstitution - Missense
KIAA1598ENSG00000187164ENST00000355371p.A29Sc.85G>TSubstitution - Missense
KRTAP5-10ENSG00000204572ENST00000398531p.S26Sc.78C>TSubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.G4149Gc.12447C>GSubstitution - coding silent
DDIT4ENSG00000168209ENST00000307365p.E231Gc.692A>GSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313382p.S1055Ac.3163T>GSubstitution - Missense
VPS13CENSG00000129003ENST00000261517p.G467Vc.1400G>TSubstitution - Missense
PIF1ENSG00000140451ENST00000268043p.V293Mc.877G>ASubstitution - Missense
LRRIQ3ENSG00000162620ENST00000395089p.T206Nc.617C>ASubstitution - Missense
PARD3BENSG00000116117ENST00000358768p.S631Sc.1893T>ASubstitution - coding silent
OGFOD3ENSG00000181396ENST00000329197p.P272Rc.815C>GSubstitution - Missense
ENSG00000204814ENST00000377548p.H76Nc.226C>ASubstitution - Missense
SLC17A2ENSG00000112337ENST00000360488p.L367Fc.1101G>TSubstitution - Missense
WRNENSG00000165392ENST00000298139p.T703Sc.2108C>GSubstitution - Missense
LILRB3ENSG00000204577ENST00000391750p.H409Yc.1225C>TSubstitution - Missense
ANK2ENSG00000145362ENST00000357077p.S878Ic.2633G>TSubstitution - Missense
CLEC4FENSG00000152672ENST00000272367p.D148Ec.444C>ASubstitution - Missense
ENST00000237177p.S1803Rc.5409T>ASubstitution - Missense
SETXENSG00000107290ENST00000224140p.I1354Mc.4062C>GSubstitution - Missense
PTPRN2ENSG00000155093ENST00000404321p.A387Vc.1160C>TSubstitution - Missense
SLC38A11ENSG00000169507ENST00000303735p.A328Sc.982G>TSubstitution - Missense
HMGA1ENSG00000137309ENST00000395004p.H173Yc.517C>TSubstitution - Missense
PLTPENSG00000100979ENST00000372431p.E18Vc.53A>TSubstitution - Missense
ELFN1ENSG00000225968ENST00000424383p.M420Lc.1258A>TSubstitution - Missense
NM_144488.2p.A29Dc.86C>ASubstitution - Missense
ASTN1ENSG00000152092ENST00000367654p.S368Nc.1103G>ASubstitution - Missense
FCGR2BENSG00000072694ENST00000428605p.P123Lc.368C>TSubstitution - Missense
GSTM4ENSG00000168765ENST00000326729p.H68Pc.203A>CSubstitution - Missense
CCDC180ENSG00000197816ENST00000411667p.?c.712-5C>TUnknown
PSMC2ENSG00000161057ENST00000292644p.G211Gc.633C>TSubstitution - coding silent
ESYT1ENSG00000139641ENST00000394048p.?c.805-3C>AUnknown
NM_172217.1p.P890Rc.2669C>GSubstitution - Missense
ZNF365ENSG00000138311ENST00000410046p.P149Pc.447C>ASubstitution - coding silent
VIMENSG00000026025ENST00000544301p.D429fs*15c.1284delGDeletion - Frameshift
SNX29ENSG00000048471ENST00000306030p.E303*c.907G>TSubstitution - Nonsense
TRIM33ENSG00000197323ENST00000358465p.S787Rc.2361C>GSubstitution - Missense
TCHHL1ENSG00000182898ENST00000368806p.S64Ic.191G>TSubstitution - Missense
MDGA2ENSG00000139915ENST00000357362p.Q457Qc.1371G>ASubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369356p.S692Sc.2076C>ASubstitution - coding silent
ZFC3H1ENSG00000133858ENST00000378743p.V811Vc.2433G>ASubstitution - coding silent
VPS13CENSG00000129003ENST00000395896p.G467Vc.1400G>TSubstitution - Missense
LILRA1ENSG00000104974ENST00000251372p.S414Pc.1240T>CSubstitution - Missense
ZNF729ENSG00000196350ENST00000357491p.H667Pc.2000A>CSubstitution - Missense
EBF2ENSG00000221818ENST00000520164p.G359Ac.1076G>CSubstitution - Missense
KCNV2ENSG00000168263ENST00000382082p.D154Yc.460G>TSubstitution - Missense
MLLT4ENSG00000130396ENST00000392108p.R775Cc.2323C>TSubstitution - Missense
GRSF1ENSG00000132463ENST00000254799p.I469Vc.1405A>GSubstitution - Missense
ESCO1ENSG00000141446ENST00000269214p.K100Nc.300G>TSubstitution - Missense
KIAA1468ENSG00000134444ENST00000398130p.G845Gc.2535C>ASubstitution - coding silent
ENST00000405167p.G2412Sc.7234G>ASubstitution - Missense
MYH15ENSG00000144821ENST00000273353p.A158Tc.472G>ASubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.F588Yc.1763T>ASubstitution - Missense
RAMP1ENSG00000132329ENST00000254661p.R67Gc.199A>GSubstitution - Missense
PPP1R15AENSG00000087074ENST00000200453p.W616Gc.1846T>GSubstitution - Missense
CYB5R3ENSG00000100243ENST00000396303p.D78Dc.234T>CSubstitution - coding silent
ACTL7AENSG00000187003ENST00000333999p.E53*c.157G>TSubstitution - Nonsense
ACOT12ENSG00000172497ENST00000307624p.R147Qc.440G>ASubstitution - Missense
PCDHGA6ENSG00000253731ENST00000517434p.G169*c.505G>TSubstitution - Nonsense
FOXP2ENSG00000128573ENST00000408937p.S25Sc.75C>TSubstitution - coding silent
RIMS2ENSG00000176406ENST00000436393p.F1191Lc.3573C>ASubstitution - Missense
C14orf37ENSG00000139971ENST00000267485p.T251Tc.753C>GSubstitution - coding silent
CASC1ENSG00000118307ENST00000354189p.L421Lc.1263G>ASubstitution - coding silent
ANKARENSG00000151687ENST00000313581p.F165Lc.495T>ASubstitution - Missense
ATXN7ENSG00000163635ENST00000295900p.D830Ec.2490C>ASubstitution - Missense
SLC39A3ENSG00000141873ENST00000269740p.F100Lc.300C>ASubstitution - Missense
ENST00000448396p.S7Pc.19T>CSubstitution - Missense
ZNF500ENSG00000103199ENST00000219478p.A248fs*24c.743delCDeletion - Frameshift
PRDM15ENSG00000141956ENST00000269844p.S1362Ic.4085G>TSubstitution - Missense
RBM6ENSG00000004534ENST00000266022p.L245Lc.735A>GSubstitution - coding silent
CXorf22ENSG00000165164ENST00000297866p.L135Fc.405G>TSubstitution - Missense
SPIDRENSG00000164808ENST00000297423p.?c.2189-5G>AUnknown
SEC14L3ENSG00000100012ENST00000215812p.?c.1081+9G>TUnknown
BCKDKENSG00000103507ENST00000394951p.P66Sc.196C>TSubstitution - Missense
ENST00000570743p.G460Gc.1380G>ASubstitution - coding silent
ENST00000346567p.?c.589+8G>CUnknown
PLCD1ENSG00000187091ENST00000334661p.R399Hc.1196G>ASubstitution - Missense
ABCA8ENSG00000141338ENST00000269080p.Q1414Kc.4240C>ASubstitution - Missense
PNPLA1ENSG00000180316ENST00000388715p.P231Lc.692C>TSubstitution - Missense
AVL9ENSG00000105778ENST00000318709p.C257Rc.769T>CSubstitution - Missense
DPCR1ENSG00000168631ENST00000462446p.Q684Kc.2050C>ASubstitution - Missense
HSPA1LENSG00000204390ENST00000375654p.A309Ec.926C>ASubstitution - Missense
GPR116ENSG00000069122ENST00000265417p.C1082*c.3246C>ASubstitution - Nonsense
ENST00000304105p.F107fs*14c.320_321delTTDeletion - Frameshift
C5ENSG00000106804ENST00000223642p.P1223Pc.3669C>ASubstitution - coding silent
ERMARDENSG00000130023ENST00000366772p.S446Nc.1337G>ASubstitution - Missense
TAF8ENSG00000137413ENST00000456846p.Y223Yc.669C>TSubstitution - coding silent
SCN8AENSG00000196876ENST00000354534p.V1277Vc.3831C>GSubstitution - coding silent
NUP133ENSG00000069248ENST00000261396p.L1069Ic.3205C>ASubstitution - Missense
TPP2ENSG00000134900ENST00000376065p.T749Nc.2246C>ASubstitution - Missense
JAKMIP3ENSG00000188385ENST00000298622p.R357*c.1069C>TSubstitution - Nonsense
RNF121ENSG00000137522ENST00000361756p.Q87*c.259C>TSubstitution - Nonsense
MROH9ENSG00000117501ENST00000367758p.D480Yc.1438G>TSubstitution - Missense
RAPGEF3ENSG00000079337ENST00000449771p.?c.502+9G>AUnknown
NBPF6ENSG00000186086ENST00000444143p.I637Vc.1909A>GSubstitution - Missense
NM_015906p.S787Rc.2361C>GSubstitution - Missense
PTPRBENSG00000127329ENST00000261266p.?c.5124+4C>TUnknown
PAPPA2ENSG00000116183ENST00000367662p.S1018Sc.3054G>TSubstitution - coding silent
IFI44ENSG00000137965ENST00000370747p.D302Ec.906C>ASubstitution - Missense
CYP2J2ENSG00000134716ENST00000371204p.I375Ic.1125C>ASubstitution - coding silent
NKAPENSG00000101882ENST00000371410p.D280Yc.838G>TSubstitution - Missense
HSD17B2ENSG00000086696ENST00000199936p.M38Ic.114G>TSubstitution - Missense
ENST00000375206p.?c.1138-5C>TUnknown
ATXN7ENSG00000163635ENST00000398590p.D830Ec.2490C>ASubstitution - Missense
FLNBENSG00000136068ENST00000490882p.P1080Qc.3239C>ASubstitution - Missense
EBF2ENSG00000221818ENST00000520164p.G359Ac.1076G>CSubstitution - Missense
TLN1ENSG00000137076ENST00000314888p.E2294Ec.6882A>GSubstitution - coding silent
CLK1ENSG00000013441ENST00000321356p.L243Vc.727C>GSubstitution - Missense
OSBPL6ENSG00000079156ENST00000190611p.P589Pc.1767T>GSubstitution - coding silent
UNC5DENSG00000156687ENST00000404895p.E198Dc.594G>CSubstitution - Missense
GATSL3ENSG00000239282ENST00000407689p.Y236Cc.707A>GSubstitution - Missense
ENST00000376951p.A560Ac.1680G>TSubstitution - coding silent
RNF25ENSG00000163481ENST00000295704p.P346Tc.1036C>ASubstitution - Missense
NM_138737.1p.D1023Yc.3067G>TSubstitution - Missense
MFSD12ENSG00000161091ENST00000398558p.?c.1420+5G>AUnknown
TLR3ENSG00000164342ENST00000296795p.T395Nc.1184C>ASubstitution - Missense
MUC21ENSG00000204544ENST00000376296p.T119Ic.356C>TSubstitution - Missense
ENST00000316490_v65p.?c.8673+5G>AUnknown
PSG3ENSG00000221826ENST00000327495p.G206Ac.617G>CSubstitution - Missense
CACNA1EENSG00000198216ENST00000367567p.L917Lc.2751C>ASubstitution - coding silent
BLZF1ENSG00000117475ENST00000367807p.K4Ic.11A>TSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000553158p.P495Hc.1484C>ASubstitution - Missense
ADAMTS20ENSG00000173157ENST00000553158p.?c.3382-8C>GUnknown
FAM196BENSG00000204767ENST00000377365p.?c.1421+5C>AUnknown
MPP4ENSG00000082126ENST00000359962p.A584Vc.1751C>TSubstitution - Missense
CDH12ENSG00000154162ENST00000382254p.D337Nc.1009G>ASubstitution - Missense
LRFN2ENSG00000156564ENST00000338305p.V55Vc.165G>TSubstitution - coding silent
SERPINB11ENSG00000206072ENST00000544088p.?c.228+10T>AUnknown
DSELENSG00000171451ENST00000310045p.A340Ec.1019C>ASubstitution - Missense
PTPN23ENSG00000076201ENST00000265562p.R625Cc.1873C>TSubstitution - Missense
FOCADENSG00000188352ENST00000380249p.E1430Dc.4290A>TSubstitution - Missense
RBM22ENSG00000086589ENST00000199814p.?c.372+8G>AUnknown
NDST1ENSG00000070614ENST00000261797p.A690Ec.2069C>ASubstitution - Missense
SGK1ENSG00000118515ENST00000237305p.F166Fc.498C>TSubstitution - coding silent
PTPRN2ENSG00000155093ENST00000404321p.M363Ic.1089G>TSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
FCGBPENSG00000090920ENST00000221347p.R1267Hc.3800G>ASubstitution - Missense
OR1Q1ENSG00000165202ENST00000297913p.R173Ic.518G>TSubstitution - Missense
SLC9A3ENSG00000066230ENST00000264938p.D542Dc.1626T>CSubstitution - coding silent
GPR111ENSG00000164393ENST00000398742p.E284*c.850G>TSubstitution - Nonsense
SCUBE3ENSG00000146197ENST00000274938p.C416Cc.1248C>TSubstitution - coding silent
ZNF850ENSG00000267041ENST00000591344p.T976Tc.2928C>TSubstitution - coding silent
KCNMA1ENSG00000156113ENST00000404771p.H588Nc.1762C>ASubstitution - Missense
SLC17A2ENSG00000112337ENST00000377850p.G417Wc.1249G>TSubstitution - Missense
DDAH1ENSG00000153904ENST00000284031p.P259Pc.777C>TSubstitution - coding silent
ABCB8ENSG00000197150ENST00000356058p.T229Tc.687C>ASubstitution - coding silent
MYO9AENSG00000066933ENST00000356056p.R97Cc.289C>TSubstitution - Missense
CKAP5ENSG00000175216ENST00000529230p.E107Ec.321G>ASubstitution - coding silent
BRCA2ENSG00000139618ENST00000380152p.V2333Ac.6998T>CSubstitution - Missense
PLEKHA1ENSG00000107679ENST00000368990p.L391Lc.1173A>GSubstitution - coding silent
CPT1AENSG00000110090ENST00000265641p.D17Dc.51C>TSubstitution - coding silent
CPT1AENSG00000110090ENST00000376618p.D17Dc.51C>TSubstitution - coding silent
HRNRENSG00000197915ENST00000368801p.S2184Sc.6552C>TSubstitution - coding silent
SYT8ENSG00000149043ENST00000535046p.?c.715-150_933del369Unknown
AKAP6ENSG00000151320ENST00000280979p.L1674Fc.5022G>TSubstitution - Missense
RALGAPA2ENSG00000188559ENST00000202677p.F210Yc.629T>ASubstitution - Missense
ENST00000414268p.S509Lc.1526C>TSubstitution - Missense
ADAT1ENSG00000065457ENST00000307921p.Q368Kc.1102C>ASubstitution - Missense
ENST00000332558_v68p.M1Ic.3G>ASubstitution - Missense
ENST00000486230p.V9Ic.25G>ASubstitution - Missense
CES5AENSG00000159398ENST00000521992p.H373Hc.1119C>TSubstitution - coding silent
SLC4A4ENSG00000080493ENST00000340595p.?c.2806-7C>AUnknown
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
OGFOD3ENSG00000181396ENST00000313056p.P272Rc.815C>GSubstitution - Missense
TRMT2AENSG00000099899ENST00000252136p.C26Fc.77G>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.A23399Dc.70196C>ASubstitution - Missense
DCDC2ENSG00000146038ENST00000378454p.G437Gc.1311C>ASubstitution - coding silent
ENST00000405167p.T1156Tc.3468T>CSubstitution - coding silent
ZNF841ENSG00000197608ENST00000389534p.P764Hc.2291C>ASubstitution - Missense
MYH2ENSG00000125414ENST00000245503p.L998Mc.2992C>ASubstitution - Missense
FAM65AENSG00000039523ENST00000042381p.P485Tc.1453C>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.G2412Sc.7234G>ASubstitution - Missense
ENST00000381114p.I357Vc.1069A>GSubstitution - Missense
MAML1ENSG00000161021ENST00000292599p.A523Ac.1569G>TSubstitution - coding silent
ROS1ENSG00000047936ENST00000368508p.D2213Ec.6639C>ASubstitution - Missense
TP63ENSG00000073282ENST00000264731p.S457Pc.1369T>CSubstitution - Missense
RBBP6ENSG00000122257ENST00000319715p.?c.267-2A>GUnknown
ZNF112ENSG00000062370ENST00000337401p.G633Gc.1899A>GSubstitution - coding silent
UNC13AENSG00000130477ENST00000252773p.T708Nc.2123C>ASubstitution - Missense
KLHL5ENSG00000109790ENST00000359687p.R616Hc.1847G>ASubstitution - Missense
FLNBENSG00000136068ENST00000357272p.P1080Qc.3239C>ASubstitution - Missense
MED22ENSG00000148297ENST00000343730p.H199Hc.597C>TSubstitution - coding silent
CSMD1ENSG00000183117ENST00000539096p.F588Yc.1763T>ASubstitution - Missense
MBNL2ENSG00000139793ENST00000343600p.A37Sc.109G>TSubstitution - Missense
HSPG2ENSG00000142798ENST00000374695p.W2958*c.8874G>ASubstitution - Nonsense
SU_DYRK4p.K514Nc.1542G>TSubstitution - Missense
TP53BP1ENSG00000067369ENST00000263801p.A1479Ac.4437C>ASubstitution - coding silent
DDR2ENSG00000162733ENST00000367922p.E79*c.235G>TSubstitution - Nonsense
ENST00000280576p.P3000Pc.9000G>TSubstitution - coding silent
CETN3ENSG00000153140ENST00000283122p.L95Fc.285G>TSubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.R4991Qc.14972G>ASubstitution - Missense
HEATR6ENSG00000068097ENST00000184956p.R84Qc.251G>ASubstitution - Missense
AVL9ENSG00000105778ENST00000404479p.C257Rc.769T>CSubstitution - Missense
GABRG2ENSG00000113327ENST00000356592p.F116Lc.346T>CSubstitution - Missense
RIMS2ENSG00000176406ENST00000406091p.F1173Lc.3519C>ASubstitution - Missense
MATR3ENSG00000015479ENST00000394805p.?c.1130-5T>AUnknown
TMEM63BENSG00000137216ENST00000259746p.A263Tc.787G>ASubstitution - Missense
UPP2ENSG00000007001ENST00000409859p.T273Ic.818C>TSubstitution - Missense
ZNF112ENSG00000062370ENST00000337401p.G633Gc.1899A>GSubstitution - coding silent
KIAA1211ENSG00000109265ENST00000264229p.S705Sc.2115C>ASubstitution - coding silent
NM_002847.2p.A364Vc.1091C>TSubstitution - Missense
RBM22ENSG00000086589ENST00000540000p.?c.225+8G>AUnknown
FOXJ2ENSG00000065970ENST00000162391p.P360Hc.1079C>ASubstitution - Missense
NEK2ENSG00000117650ENST00000366999p.N393Kc.1179C>ASubstitution - Missense
ZNF365ENSG00000138311ENST00000395254p.P149Pc.447C>ASubstitution - coding silent
ZNF365ENSG00000138311ENST00000395255p.P149Pc.447C>ASubstitution - coding silent
SU_KSR2p.V109Lc.325G>CSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.S989Ac.2965T>GSubstitution - Missense
CACNA1EENSG00000198216ENST00000367570p.L1310Lc.3930C>ASubstitution - coding silent
ENST00000444143_v68p.I637Vc.1909A>GSubstitution - Missense
KARSENSG00000065427ENST00000302445p.K41Kc.123A>GSubstitution - coding silent
CDKN2CENSG00000123080ENST00000262662p.L116Lc.348C>ASubstitution - coding silent
NM_004330.1p.F95Fc.285T>CSubstitution - coding silent
ENST00000248272p.S224Ac.670T>GSubstitution - Missense
SPATA20ENSG00000006282ENST00000006658p.A712Sc.2134G>TSubstitution - Missense
KIF24ENSG00000186638ENST00000402558p.T1077Mc.3230C>TSubstitution - Missense
PRR12ENSG00000126464ENST00000418929p.K1746Kc.5238G>ASubstitution - coding silent
ENST00000436173p.L1961Mc.5881C>ASubstitution - Missense
CYHR1ENSG00000187954ENST00000438911p.T109Tc.327G>CSubstitution - coding silent
PRLENSG00000172179ENST00000306482p.R71Wc.211C>TSubstitution - Missense
HDAC4ENSG00000068024ENST00000345617p.L358Lc.1074G>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.T26088Kc.78263C>ASubstitution - Missense
POLNENSG00000130997ENST00000511885p.T506Mc.1517C>TSubstitution - Missense
DDX17ENSG00000100201ENST00000403230p.D403Nc.1207G>ASubstitution - Missense
ENST00000505235p.D375Dc.1125C>TSubstitution - coding silent
ANXA1ENSG00000135046ENST00000257497p.A116Ec.347C>ASubstitution - Missense
ARHGAP17ENSG00000140750ENST00000303665p.P657Lc.1970C>TSubstitution - Missense
UPP2ENSG00000007001ENST00000005756p.T216Ic.647C>TSubstitution - Missense
MAN2B2ENSG00000013288ENST00000285599p.A263Ac.789C>TSubstitution - coding silent
DPCR1ENSG00000168631ENST00000462446p.S674Pc.2020T>CSubstitution - Missense
CDHR2ENSG00000074276ENST00000261944p.R1050Wc.3148C>TSubstitution - Missense
CTNNA2ENSG00000066032ENST00000361291p.A272Ac.816C>ASubstitution - coding silent
LAMA5ENSG00000130702ENST00000370677p.D194fs*43c.576_577insAGInsertion - Frameshift
ENST00000338603p.R247Qc.740G>ASubstitution - Missense
S1PR1ENSG00000170989ENST00000305352p.D23Yc.67G>TSubstitution - Missense
OR10G4ENSG00000254737ENST00000320891p.S138Nc.413G>ASubstitution - Missense
ATP8A2ENSG00000132932ENST00000381655p.S797Fc.2390C>TSubstitution - Missense
UBE3AENSG00000114062ENST00000397954p.R62Hc.185G>ASubstitution - Missense
CACNA1EENSG00000198216ENST00000367573p.L1310Lc.3930C>ASubstitution - coding silent
MIPOL1ENSG00000151338ENST00000327441p.?c.658-16_679del38Unknown
HCAR1ENSG00000196917ENST00000356987p.L203Qc.608T>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369354p.S692Sc.2076C>ASubstitution - coding silent
LRRIQ3ENSG00000162620ENST00000395089p.T428Tc.1284A>GSubstitution - coding silent
ALG14ENSG00000172339ENST00000370205p.K186Nc.558G>TSubstitution - Missense
FLNBENSG00000136068ENST00000490882p.E2426Kc.7276G>ASubstitution - Missense
KIR3DX1ENSG00000104970ENST00000335056p.F243Sc.728T>CSubstitution - Missense
SLC12A3ENSG00000070915ENST00000438926p.K862Kc.2586G>ASubstitution - coding silent
PTPRAENSG00000132670ENST00000358719p.?c.63-1G>TUnknown
RHOAENSG00000067560ENST00000418115p.G17Ec.50G>ASubstitution - Missense
LTBP1ENSG00000049323ENST00000407925p.F234Fc.702C>TSubstitution - coding silent
ENST00000405167p.H1149Dc.3445C>GSubstitution - Missense
FBXO7ENSG00000100225ENST00000266087p.R342Qc.1025G>ASubstitution - Missense
DNAH7ENSG00000118997ENST00000312428p.S221Sc.663C>TSubstitution - coding silent
LRRC48ENSG00000171962ENST00000582416p.S7Pc.19T>CSubstitution - Missense
F8ENSG00000185010ENST00000360256p.S700Lc.2099C>TSubstitution - Missense
TIRAPENSG00000150455ENST00000392678p.V104Vc.312C>TSubstitution - coding silent
KCNMA1ENSG00000156113ENST00000286627p.H651Nc.1951C>ASubstitution - Missense
RASSF5ENSG00000136653ENST00000355294p.R247Qc.740G>ASubstitution - Missense
CHRNB4ENSG00000117971ENST00000261751p.L58Mc.172C>ASubstitution - Missense
SEC23IPENSG00000107651ENST00000369075p.?c.2921+10C>AUnknown
TUT1ENSG00000149016ENST00000308436p.A819Sc.2455G>TSubstitution - Missense
LRRC43ENSG00000158113ENST00000425921p.L320Ic.958C>ASubstitution - Missense
FLGENSG00000143631ENST00000368799p.G2261Ac.6782G>CSubstitution - Missense
SYPL2ENSG00000143028ENST00000369872p.C53Wc.159T>GSubstitution - Missense
IGDCC3ENSG00000174498ENST00000327987p.V316fs*1c.946delGDeletion - Frameshift
TXNDC16ENSG00000087301ENST00000281741p.V376Ac.1127T>CSubstitution - Missense
ACADLENSG00000115361ENST00000233710p.A270Gc.809C>GSubstitution - Missense
SRRM1ENSG00000133226ENST00000447431p.K546Rc.1637A>GSubstitution - Missense
EBF2ENSG00000221818ENST00000520164p.D37Ec.111C>ASubstitution - Missense
EPHA3ENSG00000044524ENST00000336596p.S637Cc.1909A>TSubstitution - Missense
MGAMENSG00000257335ENST00000549489p.?c.2499-8C>AUnknown
TEX15ENSG00000133863ENST00000256246p.N759Kc.2277C>ASubstitution - Missense
NFKB1ENSG00000109320ENST00000226574p.D758Gc.2273A>GSubstitution - Missense
STT3BENSG00000163527ENST00000295770p.K784Kc.2352A>GSubstitution - coding silent
STK11IPENSG00000144589ENST00000295641p.T146Tc.438C>ASubstitution - coding silent
AK9ENSG00000155085ENST00000424296p.?c.1999+10T>CUnknown
PPP4R1ENSG00000154845ENST00000400556p.T409Nc.1226C>ASubstitution - Missense
NM_139238.1p.V488Ic.1462G>ASubstitution - Missense
SEC16AENSG00000148396ENST00000313084p.?c.1_26del26Unknown
C9orf172ENSG00000232434ENST00000436881p.P287Sc.859C>TSubstitution - Missense
C8orf76ENSG00000189376ENST00000276704p.?c.213+9C>AUnknown
HAS2ENSG00000170961ENST00000303924p.H293Rc.878A>GSubstitution - Missense
KIAA1211ENSG00000109265ENST00000264229p.L621Lc.1863C>TSubstitution - coding silent
TMEM59ENSG00000116209ENST00000420738p.D93Vc.278A>TSubstitution - Missense
CDC14AENSG00000079335ENST00000361544p.E326Gc.977A>GSubstitution - Missense
SCARB1ENSG00000073060ENST00000415380p.?c.630+3A>GUnknown
BCAS3ENSG00000141376ENST00000589222p.H377Yc.1129C>TSubstitution - Missense
CHST10ENSG00000115526ENST00000542617p.K168Kc.504G>ASubstitution - coding silent
F11ENSG00000088926ENST00000264692p.C275Wc.825C>GSubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.P833Tc.2497C>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.P838Tc.2512C>ASubstitution - Missense
WNK2ENSG00000165238ENST00000395477p.F363Lc.1089C>ASubstitution - Missense
TBC1D4ENSG00000136111ENST00000377636p.S542Gc.1624A>GSubstitution - Missense
TDRD9ENSG00000156414ENST00000409874p.L1354Mc.4060C>ASubstitution - Missense
CCDC3ENSG00000151468ENST00000378825p.L238Pc.713T>CSubstitution - Missense
RSC1A1ENSG00000215695ENST00000345034p.S137Yc.410C>ASubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.L1113Lc.3339T>ASubstitution - coding silent
RORAENSG00000069667ENST00000261523p.V412Vc.1236G>TSubstitution - coding silent
WLSENSG00000116729ENST00000354777p.S520Sc.1560G>ASubstitution - coding silent
RAI14ENSG00000039560ENST00000265109p.P396Lc.1187C>TSubstitution - Missense
NDC1ENSG00000058804ENST00000371429p.K628fs*1c.1880_1881insTInsertion - Frameshift
TTYH1ENSG00000167614ENST00000376531p.P85Sc.253C>TSubstitution - Missense
RP1ENSG00000104237ENST00000220676p.S155Ic.464G>TSubstitution - Missense
CCDC180ENSG00000197816ENST00000375205p.L101Lc.303C>TSubstitution - coding silent
SYNPRENSG00000163630ENST00000478300p.S259Rc.777T>GSubstitution - Missense
SLC7A13ENSG00000164893ENST00000419776p.S301Sc.903A>CSubstitution - coding silent
DOCK8ENSG00000107099ENST00000453981p.Q40Kc.118C>ASubstitution - Missense
ENST00000403891p.T559Mc.1676C>TSubstitution - Missense
KRTAP1-1ENSG00000188581ENST00000306271p.C66Yc.197G>ASubstitution - Missense
ZNF600ENSG00000189190ENST00000338230p.P693Tc.2077C>ASubstitution - Missense
MYH1ENSG00000109061ENST00000226207p.?c.1587+1G>TUnknown
UNC5DENSG00000156687ENST00000287272p.E193Dc.579G>CSubstitution - Missense
FNDC4ENSG00000115226ENST00000264703p.S11fs*28c.22_23insCInsertion - Frameshift
HGFENSG00000019991ENST00000222390p.R181Qc.542G>ASubstitution - Missense
CTAG2ENSG00000126890ENST00000369585p.Q178Kc.532C>ASubstitution - Missense
POPDC2ENSG00000121577ENST00000264231p.P362Hc.1085C>ASubstitution - Missense
SEZ6L2ENSG00000174938ENST00000350527p.A426Sc.1276G>TSubstitution - Missense
ANO3ENSG00000134343ENST00000256737p.N603Sc.1808A>GSubstitution - Missense
IDH2ENSG00000182054ENST00000330062p.Q316*c.946C>TSubstitution - Nonsense
DMXL2ENSG00000104093ENST00000251076p.V1955Ic.5863G>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000313431p.Q250Lc.749A>TSubstitution - Missense
NM_002837.2p.?c.5124+4C>TUnknown
ZNF341ENSG00000131061ENST00000342427p.S714Sc.2142C>ASubstitution - coding silent
MTMR7ENSG00000003987ENST00000180173p.?c.147+9T>GUnknown
SMR3AENSG00000109208ENST00000226460p.P103Qc.308C>ASubstitution - Missense
TRRAPENSG00000196367ENST00000359863p.D2822Yc.8464G>TSubstitution - Missense
PLECENSG00000178209ENST00000345136p.P2913Pc.8739G>ASubstitution - coding silent
KAT6AENSG00000083168ENST00000265713p.D609fs*13c.1825_1826delGADeletion - Frameshift
NM_206943.1p.F560Fc.1680C>TSubstitution - coding silent
FPR1ENSG00000171051ENST00000304748p.T325Nc.974C>ASubstitution - Missense
CAPN15ENSG00000103326ENST00000219611p.V244Mc.730G>ASubstitution - Missense
GRID2ENSG00000152208ENST00000282020p.D267Nc.799G>ASubstitution - Missense
ACAP1ENSG00000072818ENST00000158762p.G168fs*12c.500delGDeletion - Frameshift
ABCA9ENSG00000154258ENST00000340001p.C1501Cc.4503T>CSubstitution - coding silent
ZNF606ENSG00000166704ENST00000341164p.H303Qc.909T>ASubstitution - Missense
NFE2L3ENSG00000050344ENST00000056233p.L36_P37insLc.109_110insTGCInsertion - In frame
TREX1ENSG00000213689ENST00000422277p.C263Sc.788G>CSubstitution - Missense
TAF8ENSG00000137413ENST00000372977p.Y223Yc.669C>TSubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.I4177Tc.12530T>CSubstitution - Missense
SOGA3ENSG00000214338ENST00000368268p.E597*c.1789G>TSubstitution - Nonsense
DNMT1ENSG00000130816ENST00000340748p.P222Pc.666T>CSubstitution - coding silent
PCDHGA10ENSG00000253846ENST00000398610p.G169*c.505G>TSubstitution - Nonsense
ACBD4ENSG00000181513ENST00000431281p.L331Lc.993A>GSubstitution - coding silent
DPCR1ENSG00000168631ENST00000462446p.A805Gc.2414C>GSubstitution - Missense
TBX18ENSG00000112837ENST00000369663p.?c.772-4A>GUnknown
KCNMA1ENSG00000156113ENST00000372443p.H651Nc.1951C>ASubstitution - Missense
TLR4ENSG00000136869ENST00000355622p.R745Lc.2234G>TSubstitution - Missense
TBCCD1ENSG00000113838ENST00000338733p.W283*c.849G>ASubstitution - Nonsense
RARSENSG00000113643ENST00000231572p.L95Fc.285G>TSubstitution - Missense
GLRA3ENSG00000145451ENST00000274093p.G402Dc.1205G>ASubstitution - Missense
SEC14L3ENSG00000100012ENST00000415957p.?c.904+9G>TUnknown
MYO9AENSG00000066933ENST00000424560p.R97Cc.289C>TSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.G4135Gc.12405G>TSubstitution - coding silent
C1orf86ENSG00000162585ENST00000400919p.E114*c.340G>TSubstitution - Nonsense
CACNB3ENSG00000167535ENST00000301050p.W103*c.309G>ASubstitution - Nonsense
ADAMTS20ENSG00000173157ENST00000389420p.?c.3382-8C>GUnknown
TUT1ENSG00000149016ENST00000278279p.A781Sc.2341G>TSubstitution - Missense
SCARB1ENSG00000073060ENST00000261693p.?c.630+3A>GUnknown
ENST00000306030_v65p.E303*c.907G>TSubstitution - Nonsense
TARSL2ENSG00000185418ENST00000335968p.V345Lc.1033G>TSubstitution - Missense
LRMPENSG00000118308ENST00000354454p.D60Yc.178G>TSubstitution - Missense
RORAENSG00000069667ENST00000335670p.V379Vc.1137G>TSubstitution - coding silent
CERKLENSG00000188452ENST00000410087p.?c.1074-6T>CUnknown
ENSG00000183470ENST00000332558p.M1Ic.3G>ASubstitution - Missense
TMPRSS15ENSG00000154646ENST00000284885p.L152Lc.456G>TSubstitution - coding silent
ENST00000375206p.L61Lc.183C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.L2226Hc.6677T>ASubstitution - Missense
ENST00000405167p.P3366Tc.10096C>ASubstitution - Missense
FBXO7ENSG00000100225ENST00000382058p.R263Qc.788G>ASubstitution - Missense
C3orf20ENSG00000131379ENST00000253697p.R680Cc.2038C>TSubstitution - Missense
CYBBENSG00000165168ENST00000378588p.K499Tc.1496A>CSubstitution - Missense
ENST00000160874p.F36Lc.106T>CSubstitution - Missense
TMEM242ENSG00000215712ENST00000400788p.G86Gc.258C>ASubstitution - coding silent
FAM170AENSG00000164334ENST00000509264p.E146fs*19c.435_436delAGDeletion - Frameshift
DDX17ENSG00000100201ENST00000381633p.D324Nc.970G>ASubstitution - Missense
WISP3ENSG00000112761ENST00000361714p.I331Mc.993T>GSubstitution - Missense
PTCHD4ENSG00000244694ENST00000339488p.R40Gc.118C>GSubstitution - Missense
PIF1ENSG00000140451ENST00000333425p.V293Mc.877G>ASubstitution - Missense
OR52H1ENSG00000181616ENST00000322653p.Y43Nc.127T>ASubstitution - Missense
KIAA1598ENSG00000187164ENST00000392903p.A29Sc.85G>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000339750p.F109Lc.327C>ASubstitution - Missense
SEC16AENSG00000148396ENST00000398335p.H18fs*97c.46_72>26Unknown
ENST00000258062_v70p.R704_L706>Kc.2111_2118GAAGATTA>AGComplex - deletion inframe
LAMA5ENSG00000130702ENST00000370692p.D194fs*43c.576_577insAGInsertion - Frameshift
ZNF112ENSG00000062370ENST00000536500p.G650Gc.1950A>GSubstitution - coding silent
CACNA1EENSG00000198216ENST00000357570p.L1261Lc.3783C>ASubstitution - coding silent
NRG2ENSG00000158458ENST00000545385p.R176Rc.528C>TSubstitution - coding silent
PRRC1ENSG00000164244ENST00000512635p.E311Kc.931G>ASubstitution - Missense
MCTP1ENSG00000175471ENST00000312216p.V376Ic.1126G>ASubstitution - Missense
RAI14ENSG00000039560ENST00000397449p.P389Lc.1166C>TSubstitution - Missense
DCDC2ENSG00000146038ENST00000378450p.G190Gc.570C>ASubstitution - coding silent
TMEM242ENSG00000215712ENST00000367144p.G86Gc.258C>ASubstitution - coding silent
PTCHD4ENSG00000244694ENST00000543600p.R23Gc.67C>GSubstitution - Missense
PNPLA1ENSG00000180316ENST00000457797p.P327Lc.980C>TSubstitution - Missense
ABCB8ENSG00000197150ENST00000542328p.T104Tc.312C>ASubstitution - coding silent
PLECENSG00000178209ENST00000354589p.P2913Pc.8739G>ASubstitution - coding silent
PLECENSG00000178209ENST00000356346p.P2899Pc.8697G>ASubstitution - coding silent
ZFHX4ENSG00000091656ENST00000050961p.V1197Vc.3591G>ASubstitution - coding silent
SETXENSG00000107290ENST00000372169p.I1354Mc.4062C>GSubstitution - Missense
HEPHENSG00000089472ENST00000519389p.D1077Yc.3229G>TSubstitution - Missense
SYTL5ENSG00000147041ENST00000456733p.A351Ac.1053T>CSubstitution - coding silent
ENST00000309710p.R235Hc.704G>ASubstitution - Missense
ENST00000395215p.R174Qc.521G>ASubstitution - Missense
SESN3ENSG00000149212ENST00000536441p.D56Ec.168T>ASubstitution - Missense
LZTS2ENSG00000107816ENST00000370220p.?c.1069-10T>CUnknown
AHNAK2ENSG00000185567ENST00000333244p.P4306Pc.12918G>ASubstitution - coding silent
FCGR2BENSG00000072694ENST00000358671p.P123Lc.368C>TSubstitution - Missense
GSTM4ENSG00000168765ENST00000369833p.H27Pc.80A>CSubstitution - Missense
NM_005933.1p.K1225Nc.3675G>TSubstitution - Missense
CERKLENSG00000188452ENST00000339098p.?c.1152-6T>CUnknown
COL6A1ENSG00000142156ENST00000361866p.?c.904-9G>CUnknown
PLECENSG00000178209ENST00000436759p.P2940Pc.8820G>ASubstitution - coding silent
GMDSENSG00000112699ENST00000380815p.?c.539-4A>TUnknown
TTC3ENSG00000182670ENST00000354749p.S1038Cc.3113C>GSubstitution - Missense
P2RX1ENSG00000108405ENST00000225538p.C349Yc.1046G>ASubstitution - Missense
ZNF841ENSG00000197608ENST00000389534p.P764Hc.2291C>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.A17027Dc.51080C>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.A17094Dc.51281C>ASubstitution - Missense
PEG3ENSG00000198300ENST00000326441p.L1325Rc.3974T>GSubstitution - Missense
GLOD4ENSG00000167699ENST00000301329p.A178Vc.533C>TSubstitution - Missense
RGPD8ENSG00000169629ENST00000302558p.K993Qc.2977A>CSubstitution - Missense
FUT1ENSG00000174951ENST00000310160p.Q92Rc.275A>GSubstitution - Missense
GTSE1ENSG00000075218ENST00000454366p.F55Lc.163T>CSubstitution - Missense
USP37ENSG00000135913ENST00000258399p.D744Yc.2230G>TSubstitution - Missense
KLHL29ENSG00000119771ENST00000288548p.P89Pc.267G>ASubstitution - coding silent
MFSD12ENSG00000161091ENST00000389395p.?c.1420+5G>AUnknown
POM121L2ENSG00000158553ENST00000444565p.L728Lc.2184G>TSubstitution - coding silent
DPCR1ENSG00000168631ENST00000462446p.P556Lc.1667C>TSubstitution - Missense
ENST00000544729p.R84Rc.252C>TSubstitution - coding silent
PCDHA10ENSG00000250120ENST00000307360p.D375Dc.1125C>TSubstitution - coding silent
SGK1ENSG00000118515ENST00000367857p.F156Fc.468C>TSubstitution - coding silent
LRRN3ENSG00000173114ENST00000308478p.C648Fc.1943G>TSubstitution - Missense
PLTPENSG00000100979ENST00000542937p.E38Vc.113A>TSubstitution - Missense
AP3D1ENSG00000065000ENST00000356926p.S595Sc.1785G>TSubstitution - coding silent
CDC14AENSG00000079335ENST00000544534p.E326Gc.977A>GSubstitution - Missense
LRIG3ENSG00000139263ENST00000379141p.F404Cc.1211T>GSubstitution - Missense
CSGALNACT2ENSG00000169826ENST00000374466p.G447*c.1339G>TSubstitution - Nonsense
RNF187ENSG00000168159ENST00000305943p.R117Cc.349C>TSubstitution - Missense
OR51D1ENSG00000197428ENST00000357605p.V167Ac.500T>CSubstitution - Missense
TIRAPENSG00000150455ENST00000392679p.V104Vc.312C>TSubstitution - coding silent
PDE3BENSG00000152270ENST00000282096p.Q705Ec.2113C>GSubstitution - Missense
ARHGAP11BENSG00000187951ENST00000563110p.Y19Cc.56A>GSubstitution - Missense
METTL11BENSG00000203740ENST00000439373p.D18Hc.52G>CSubstitution - Missense
SLC38A2ENSG00000134294ENST00000256689p.L90Lc.270T>ASubstitution - coding silent
NBPF6ENSG00000186086ENST00000444143p.I637Tc.1910T>CSubstitution - Missense
RGS3ENSG00000138835ENST00000374140p.A133Dc.398C>ASubstitution - Missense
RC3H2ENSG00000056586ENST00000423239p.N1027Dc.3079A>GSubstitution - Missense
SLC25A25ENSG00000148339ENST00000373068p.A397Gc.1190C>GSubstitution - Missense
SLC25A25ENSG00000148339ENST00000432073p.A383Gc.1148C>GSubstitution - Missense
SLC25A25ENSG00000148339ENST00000373064p.A363Gc.1088C>GSubstitution - Missense
FGFBP1ENSG00000137440ENST00000382333p.F92Ic.274T>ASubstitution - Missense
CCDC50ENSG00000152492ENST00000392456p.R441Rc.1323G>ASubstitution - coding silent
ERGIC1ENSG00000113719ENST00000393784p.?c.375+3A>TUnknown
ADAMTS16ENSG00000145536ENST00000274181p.W394*c.1181G>ASubstitution - Nonsense
NLNENSG00000123213ENST00000380985p.D235Nc.703G>ASubstitution - Missense
ELOVL7ENSG00000164181ENST00000508821p.Y261*c.783C>ASubstitution - Nonsense
GPR111ENSG00000164393ENST00000296862p.E352*c.1054G>TSubstitution - Nonsense
HSP90AB1ENSG00000096384ENST00000371646p.G302*c.904G>TSubstitution - Nonsense
POLHENSG00000170734ENST00000372236p.V677Lc.2029G>TSubstitution - Missense
AMPHENSG00000078053ENST00000428293p.P458Sc.1372C>TSubstitution - Missense
C11orf63ENSG00000109944ENST00000307257p.R37Wc.109C>TSubstitution - Missense
BCL9LENSG00000186174ENST00000334801p.T1034Nc.3101C>ASubstitution - Missense
ARHGAP20ENSG00000137727ENST00000533353p.P1099Tc.3295C>ASubstitution - Missense
KCNMA1ENSG00000156113ENST00000354353p.H651Nc.1951C>ASubstitution - Missense
KCNMA1ENSG00000156113ENST00000428546p.N134Kc.402C>ASubstitution - Missense
OR4A16ENSG00000181961ENST00000314721p.V110Fc.328G>TSubstitution - Missense
OR51A4ENSG00000205497ENST00000380373p.A144Sc.430G>TSubstitution - Missense
P2RX3ENSG00000109991ENST00000263314p.E360Ac.1079A>CSubstitution - Missense
OR5F1ENSG00000149133ENST00000278409p.A64Vc.191C>TSubstitution - Missense
ATF7IPENSG00000171681ENST00000543189p.N683Nc.2049T>CSubstitution - coding silent
SCARB1ENSG00000073060ENST00000339570p.?c.630+3A>GUnknown
SCARB1ENSG00000073060ENST00000540495p.?c.519+3A>GUnknown
KSR2ENSG00000171435ENST00000339824p.V77Lc.229G>CSubstitution - Missense
UBE3BENSG00000151148ENST00000280774p.F570Lc.1710T>GSubstitution - Missense
SESN3ENSG00000149212ENST00000416495p.D56Ec.168T>ASubstitution - Missense
KRTAP5-10ENSG00000204572ENST00000376536p.S26Sc.78C>TSubstitution - coding silent
AGLENSG00000162688ENST00000361522p.L646Sc.1937T>CSubstitution - Missense
FOXJ2ENSG00000065970ENST00000428177p.P360Hc.1079C>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369351p.S692Sc.2076C>ASubstitution - coding silent
ASTN1ENSG00000152092ENST00000367654p.V1135Ec.3404T>ASubstitution - Missense
ENST00000367790_v70p.Y90Yc.270C>TSubstitution - coding silent
RYR2ENSG00000198626ENST00000360064p.N1482Sc.4445A>GSubstitution - Missense
WNT3AENSG00000154342ENST00000366753p.Q52Kc.154C>ASubstitution - Missense
C1orf177ENSG00000162398ENST00000371273p.P69Sc.205C>TSubstitution - Missense
NPAS3ENSG00000151322ENST00000341321p.E29Ac.86A>CSubstitution - Missense
SNX29ENSG00000048471ENST00000323433p.E303*c.907G>TSubstitution - Nonsense
ABCA8ENSG00000141338ENST00000430352p.Q1454Kc.4360C>ASubstitution - Missense
ITGB3ENSG00000259207ENST00000559488p.S379Sc.1137T>CSubstitution - coding silent
MPP2ENSG00000108852ENST00000461854p.R401Lc.1202G>TSubstitution - Missense
AP3D1ENSG00000065000ENST00000355272p.S686Sc.2058G>TSubstitution - coding silent
RGL3ENSG00000205517ENST00000393423p.S568Nc.1703G>ASubstitution - Missense
DNM2ENSG00000079805ENST00000314646p.T766Nc.2297C>ASubstitution - Missense
KIAA1468ENSG00000134444ENST00000256858p.G845Gc.2535C>ASubstitution - coding silent
TTYH1ENSG00000167614ENST00000391739p.P134Sc.400C>TSubstitution - Missense
ENST00000335056_v70p.F243Sc.728T>CSubstitution - Missense
SPTBN4ENSG00000160460ENST00000392025p.A292Vc.875C>TSubstitution - Missense
MFSD12ENSG00000161091ENST00000355415p.?c.1420+5G>AUnknown
STEAP3ENSG00000115107ENST00000409811p.R233Wc.697C>TSubstitution - Missense
ST6GAL2ENSG00000144057ENST00000409087p.T392Nc.1175C>ASubstitution - Missense
SUMO3ENSG00000184900ENST00000411651p.P38Qc.113C>ASubstitution - Missense
TRAF3IP1ENSG00000204104ENST00000391994p.T382Kc.1145C>ASubstitution - Missense
NRP2ENSG00000118257ENST00000540841p.G532Gc.1596C>ASubstitution - coding silent
OSBPL6ENSG00000079156ENST00000315022p.P593Pc.1779T>GSubstitution - coding silent
SLC38A11ENSG00000169507ENST00000409149p.A350Sc.1048G>TSubstitution - Missense
ANK2ENSG00000145362ENST00000506722p.S857Ic.2570G>TSubstitution - Missense
CEP19ENSG00000174007ENST00000409690p.L127Pc.380T>CSubstitution - Missense
MIPOL1ENSG00000151338ENST00000545536p.?c.565-16_586del38Unknown
ABHD17BENSG00000107362ENST00000377041p.C39fs*1c.117_118delTGDeletion - Frameshift
SEC16AENSG00000148396ENST00000398335p.P80fs*>49c.235_272del38Deletion - Frameshift
RAD51DENSG00000185379ENST00000345365p.G68Cc.202G>TSubstitution - Missense
ADAP2ENSG00000184060ENST00000330889p.S173Ic.518G>TSubstitution - Missense
CRLF3ENSG00000176390ENST00000324238p.R2Tc.5G>CSubstitution - Missense
RABEP1ENSG00000029725ENST00000262477p.A62Tc.184G>ASubstitution - Missense
RAD51CENSG00000108384ENST00000337432p.T283Ac.847A>GSubstitution - Missense
WDR87ENSG00000171804ENST00000303868p.Q684Kc.2050C>ASubstitution - Missense
WDR87ENSG00000171804ENST00000447313p.Q723Kc.2167C>ASubstitution - Missense
ZNF420ENSG00000197050ENST00000337995p.T526Tc.1578T>CSubstitution - coding silent
NAALADL2ENSG00000177694ENST00000454872p.V420Fc.1258G>TSubstitution - Missense
DIAPH1ENSG00000131504ENST00000398557p.Q778Rc.2333A>GSubstitution - Missense
PCDHGB7ENSG00000254122ENST00000398594p.Q269Kc.805C>ASubstitution - Missense
SLC2A6ENSG00000160326ENST00000371899p.S371Nc.1112G>ASubstitution - Missense
INPP5EENSG00000148384ENST00000371712p.A325Ac.975C>TSubstitution - coding silent
ENST00000376710p.S15Nc.44G>ASubstitution - Missense
GCNT1ENSG00000187210ENST00000376730p.F173fs*28c.516delTDeletion - Frameshift
ANXA1ENSG00000135046ENST00000456643p.A127Ec.380C>ASubstitution - Missense
SPATA31E1ENSG00000177992ENST00000325643p.A253Dc.758C>ASubstitution - Missense
ENST00000301171p.S218Sc.654G>ASubstitution - coding silent
SPTBN4ENSG00000160460ENST00000392023p.A225Vc.674C>TSubstitution - Missense
AMPHENSG00000078053ENST00000356264p.P500Sc.1498C>TSubstitution - Missense
MTMR1ENSG00000063601ENST00000370390p.D396Hc.1186G>CSubstitution - Missense
MTMR1ENSG00000063601ENST00000451863p.D396Hc.1186G>CSubstitution - Missense
CDR1ENSG00000184258ENST00000370532p.W241Rc.721T>ASubstitution - Missense
FGF13ENSG00000129682ENST00000315930p.?c.298+1G>AUnknown
FGF13ENSG00000129682ENST00000305414p.?c.139+1G>AUnknown
GPR112ENSG00000156920ENST00000394143p.?c.7776+1G>TUnknown
NRG2ENSG00000158458ENST00000361474p.R176Rc.528C>TSubstitution - coding silent
PCDHB7ENSG00000113212ENST00000231137p.S702fs*36c.2104delTDeletion - Frameshift
ADRA1BENSG00000170214ENST00000306675p.R225Cc.673C>TSubstitution - Missense
SOX30ENSG00000039600ENST00000265007p.S699Nc.2096G>ASubstitution - Missense
SCAND3ENSG00000232040ENST00000452236p.R78Cc.232C>TSubstitution - Missense
DPCR1ENSG00000168631ENST00000462446p.S675Sc.2025C>TSubstitution - coding silent
DPCR1ENSG00000168631ENST00000462446p.P676Lc.2027C>TSubstitution - Missense
MUC21ENSG00000204544ENST00000376296p.E124Dc.372G>CSubstitution - Missense
DPCR1ENSG00000168631ENST00000462446p.S555Sc.1665C>TSubstitution - coding silent
LTAENSG00000226979ENST00000454783p.A204Gc.611C>GSubstitution - Missense
CNTNAP2ENSG00000174469ENST00000361727p.?c.755-8G>CUnknown
THSD7AENSG00000005108ENST00000423059p.W432*c.1295G>ASubstitution - Nonsense
NM_002711.2p.P86Qc.257C>ASubstitution - Missense
FASTKENSG00000164896ENST00000297532p.C397Cc.1191C>TSubstitution - coding silent
ABCB8ENSG00000197150ENST00000358849p.T192Tc.576C>ASubstitution - coding silent
ENST00000360022p.A58Sc.172G>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000507740p.F987Lc.2961C>ASubstitution - Missense
RP1L1ENSG00000183638ENST00000382483p.P2096Pc.6288A>GSubstitution - coding silent
PABPC1ENSG00000070756ENST00000318607p.G441Vc.1322G>TSubstitution - Missense
CNPY4ENSG00000166997ENST00000262932p.E224Ec.672A>GSubstitution - coding silent
ENST00000316490p.?c.8529+5G>AUnknown
ENST00000309900p.?c.1347+5G>AUnknown
MARVELD3ENSG00000140832ENST00000299952p.G233Sc.697G>ASubstitution - Missense
ARHGAP17ENSG00000140750ENST00000289968p.P735Lc.2204C>TSubstitution - Missense
OR10H5ENSG00000172519ENST00000308940p.N133Kc.399C>ASubstitution - Missense
CPAMD8ENSG00000160111ENST00000291440p.R1567Hc.4700G>ASubstitution - Missense
SLC2A10ENSG00000197496ENST00000359271p.G313Dc.938G>ASubstitution - Missense
KDRENSG00000128052ENST00000263923p.G424Ac.1271G>CSubstitution - Missense
PIGGENSG00000174227ENST00000310340p.A319Vc.956C>TSubstitution - Missense
LY75ENSG00000054219ENST00000263636p.G117Rc.349G>CSubstitution - Missense
DPP6ENSG00000130226ENST00000377770p.T419Tc.1257G>TSubstitution - coding silent
DPP6ENSG00000130226ENST00000404039p.T355Tc.1065G>TSubstitution - coding silent
KMT2CENSG00000055609ENST00000355193p.?c.3324-10G>AUnknown
KMT2CENSG00000055609ENST00000262189p.?c.3324-10G>AUnknown
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
NM_002847.2p.M340Ic.1020G>TSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.P242Pc.726C>TSubstitution - coding silent
LRP2ENSG00000081479ENST00000263816p.D3662Ac.10985A>CSubstitution - Missense
KLHL29ENSG00000119771ENST00000486442p.P309Pc.927G>ASubstitution - coding silent
MROH2AENSG00000185038ENST00000389758p.A1219Ac.3657G>ASubstitution - coding silent
PARVGENSG00000138964ENST00000422871p.D153Yc.457G>TSubstitution - Missense
MCATENSG00000100294ENST00000290429p.L316Lc.948G>TSubstitution - coding silent
CYB5R3ENSG00000100243ENST00000361740p.D134Dc.402T>CSubstitution - coding silent
IFT122ENSG00000163913ENST00000296266p.Y673Dc.2017T>GSubstitution - Missense
TOPAZ1ENSG00000173769ENST00000309765p.A56Dc.167C>ASubstitution - Missense
SNRKENSG00000163788ENST00000454177p.R552Rc.1656G>ASubstitution - coding silent
SNRKENSG00000163788ENST00000454177p.R552Rc.1656G>ASubstitution - coding silent
CCR5ENSG00000160791ENST00000343801p.T288Rc.863C>GSubstitution - Missense
CCRL2ENSG00000121797ENST00000399036p.H316Hc.948T>CSubstitution - coding silent
TOPAZ1ENSG00000173769ENST00000309765p.A56Dc.167C>ASubstitution - Missense
COL7A1ENSG00000114270ENST00000328333p.T1029Mc.3086C>TSubstitution - Missense
PNPLA1ENSG00000180316ENST00000394571p.P326Lc.977C>TSubstitution - Missense
CMYA5ENSG00000164309ENST00000446378p.T762Ic.2285C>TSubstitution - Missense
ENST00000238522p.T762Ic.2285C>TSubstitution - Missense
DAAM2ENSG00000146122ENST00000538976p.V672Ac.2015T>CSubstitution - Missense
KIF6ENSG00000164627ENST00000287152p.A390Tc.1168G>ASubstitution - Missense
KIF6ENSG00000164627ENST00000287152p.A390Tc.1168G>ASubstitution - Missense
XM_379909.2p.Y554Yc.1662C>TSubstitution - coding silent
ADAMTSL1ENSG00000178031ENST00000380548p.V488Ic.1462G>ASubstitution - Missense
UNC13AENSG00000130477ENST00000428389p.T796Nc.2387C>ASubstitution - Missense
FAM46DENSG00000174016ENST00000538312p.T301Tc.903C>TSubstitution - coding silent
ERCC6LENSG00000186871ENST00000334463p.D887Nc.2659G>ASubstitution - Missense
SYMPKENSG00000125755ENST00000245934p.R206Cc.616C>TSubstitution - Missense
AP3D1ENSG00000065000ENST00000345016p.S686Sc.2058G>TSubstitution - coding silent
RABEP2ENSG00000177548ENST00000358201p.E211Qc.631G>CSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.G2406Ec.7217G>ASubstitution - Missense
TUBA3DENSG00000075886ENST00000321253p.D116Dc.348C>TSubstitution - coding silent
KIAA2018ENSG00000176542ENST00000316407p.G540Vc.1619G>TSubstitution - Missense
DZIP1LENSG00000158163ENST00000327532p.R147Cc.439C>TSubstitution - Missense
DZIP1LENSG00000158163ENST00000469243p.R147Cc.439C>TSubstitution - Missense
EPHB1ENSG00000154928ENST00000398015p.D529Hc.1585G>CSubstitution - Missense
CLGNENSG00000153132ENST00000325617p.?c.420-4T>CUnknown
FAT1ENSG00000083857ENST00000441802p.I4177Tc.12530T>CSubstitution - Missense
F11ENSG00000088926ENST00000403665p.C327Wc.981C>GSubstitution - Missense
IRF2ENSG00000168310ENST00000393593p.H44Dc.130C>GSubstitution - Missense
CD38ENSG00000004468ENST00000226279p.W46Cc.138G>TSubstitution - Missense
PPARGC1AENSG00000109819ENST00000264867p.S208Lc.623C>TSubstitution - Missense
PRRC1ENSG00000164244ENST00000442138p.E311Kc.931G>ASubstitution - Missense
FAM170AENSG00000164334ENST00000335286p.E146fs*19c.435_436delAGDeletion - Frameshift
ASCC3ENSG00000112249ENST00000369162p.C1874Fc.5621G>TSubstitution - Missense
CHD1ENSG00000153922ENST00000284049p.P450Pc.1350T>CSubstitution - coding silent
MCTP1ENSG00000175471ENST00000515393p.V597Ic.1789G>ASubstitution - Missense
PABPC5ENSG00000174740ENST00000312600p.D265Yc.793G>TSubstitution - Missense
ASCC3ENSG00000112249ENST00000369162p.V360Gc.1079T>GSubstitution - Missense
RAVER1ENSG00000161847ENST00000293677p.H631Hc.1893C>TSubstitution - coding silent
ICAM5ENSG00000105376ENST00000221980p.H517Hc.1551C>TSubstitution - coding silent
ADNP2ENSG00000101544ENST00000262198p.P854Lc.2561C>TSubstitution - Missense
ENST00000217537p.D1146Ec.3438C>ASubstitution - Missense
CSF2RBENSG00000100368ENST00000403662p.A455Tc.1363G>ASubstitution - Missense
AK9ENSG00000155085ENST00000341338p.?c.559+10T>CUnknown
ROS1ENSG00000047936ENST00000368507p.D2207Ec.6621C>ASubstitution - Missense
KHDC1ENSG00000135314ENST00000257765p.M102Ic.306G>ASubstitution - Missense
RIMS1ENSG00000079841ENST00000521978p.W864Lc.2591G>TSubstitution - Missense
C6orf57ENSG00000154079ENST00000370474p.E62Gc.185A>GSubstitution - Missense
ENSG00000148123ENST00000374874p.A227Gc.680C>GSubstitution - Missense
SGK1ENSG00000118515ENST00000528577p.F194Fc.582C>TSubstitution - coding silent
SGK1ENSG00000118515ENST00000413996p.F180Fc.540C>TSubstitution - coding silent
ALDH8A1ENSG00000118514ENST00000265605p.G459Vc.1376G>TSubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.P3083Pc.9249G>CSubstitution - coding silent
SNX14ENSG00000135317ENST00000314673p.H182Qc.546C>ASubstitution - Missense
COL12A1ENSG00000111799ENST00000322507p.E491Qc.1471G>CSubstitution - Missense
SGK1ENSG00000118515ENST00000367858p.F261Fc.783C>TSubstitution - coding silent
SLC4A1APENSG00000163798ENST00000326019p.Q392*c.1174C>TSubstitution - Nonsense
RBKSENSG00000171174ENST00000302188p.V19Ac.56T>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S3511Fc.10532C>TSubstitution - Missense
ENST00000405167p.S3511Fc.10532C>TSubstitution - Missense
ENST00000405167p.L2226Hc.6677T>ASubstitution - Missense
ENST00000405167p.H2349Dc.7045C>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T2683Sc.8047A>TSubstitution - Missense
ENST00000405167p.T2683Sc.8047A>TSubstitution - Missense
ENST00000311566p.L123Pc.368T>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T1156Tc.3468T>CSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.H1154Lc.3461A>TSubstitution - Missense
ENST00000405167p.H1154Lc.3461A>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.H1149Dc.3445C>GSubstitution - Missense
ZNF518BENSG00000178163ENST00000326756p.N969Sc.2906A>GSubstitution - Missense
OR5AC2ENSG00000196578ENST00000358642p.S232fs*2c.692_693insAInsertion - Frameshift
ARL6ENSG00000113966ENST00000493990p.E81Qc.241G>CSubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.D2985Ec.8955C>ASubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.D2985Ec.8955C>ASubstitution - Missense
CCDC109BENSG00000005059ENST00000394650p.R320Cc.958C>TSubstitution - Missense
ENST00000344132p.R232Cc.694C>TSubstitution - Missense
MAOAENSG00000189221ENST00000338702p.H187Qc.561C>GSubstitution - Missense
SYTL5ENSG00000147041ENST00000297875p.A351Ac.1053T>CSubstitution - coding silent
ZNF606ENSG00000166704ENST00000341164p.H303Qc.909T>ASubstitution - Missense
ZNF814ENSG00000204514ENST00000435989p.E293Dc.879A>CSubstitution - Missense
ZNF814ENSG00000204514ENST00000435989p.V282Ac.845T>CSubstitution - Missense
ZNF814ENSG00000204514ENST00000435989p.S277Sc.831C>GSubstitution - coding silent
ZNF814ENSG00000204514ENST00000435989p.Y352_Y408del57c.1054_1224del171Deletion - In frame
ZNF805ENSG00000204524ENST00000414468p.S241Ic.722G>TSubstitution - Missense
PEG3ENSG00000198300ENST00000423103p.L1325Rc.3974T>GSubstitution - Missense
ZNF837ENSG00000152475ENST00000427624p.L423Mc.1267C>ASubstitution - Missense
CHST10ENSG00000115526ENST00000264249p.K120Kc.360G>ASubstitution - coding silent
BTBD17ENSG00000204347ENST00000375366p.G88Ec.263G>ASubstitution - Missense
DNAI2ENSG00000171595ENST00000311014p.T337Ic.1010C>TSubstitution - Missense
SULT1C2ENSG00000198203ENST00000251481p.A97Gc.290C>GSubstitution - Missense
SCN10AENSG00000185313ENST00000449082p.N789Kc.2367C>ASubstitution - Missense
PLCD1ENSG00000187091ENST00000463876p.R420Hc.1259G>ASubstitution - Missense
SUSD5ENSG00000173705ENST00000309558p.E378Qc.1132G>CSubstitution - Missense
DGKQENSG00000145214ENST00000273814p.G851Gc.2553C>TSubstitution - coding silent
MYRIPENSG00000170011ENST00000302541p.D227Ec.681C>ASubstitution - Missense
GOT2ENSG00000125166ENST00000245206p.R337Qc.1010G>ASubstitution - Missense
CTNNA2ENSG00000066032ENST00000466387p.A238Ac.714C>ASubstitution - coding silent
NM_004389.1p.A238Ac.714C>ASubstitution - coding silent
TET3ENSG00000187605ENST00000409262p.T310Mc.929C>TSubstitution - Missense
MAML1ENSG00000161021ENST00000292599p.D1011Dc.3033C>TSubstitution - coding silent
BOD1L1ENSG00000038219ENST00000040738p.V1958Mc.5872G>ASubstitution - Missense
ENST00000346567p.W178*c.534G>ASubstitution - Nonsense
REPS1ENSG00000135597ENST00000258062p.R652_L654>Kc.1955_1962GAAGATTA>AGComplex - deletion inframe
KIAA1244ENSG00000112379ENST00000251691p.R1485Tc.4454G>CSubstitution - Missense
NM_020340.2p.R1414Tc.4241G>CSubstitution - Missense
ATXN1ENSG00000124788ENST00000244769p.K609Nc.1827G>TSubstitution - Missense
IGF2RENSG00000197081ENST00000356956p.K1230*c.3688A>TSubstitution - Nonsense
PCLOENSG00000186472ENST00000333891p.G4135Gc.12405G>TSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.G4135Gc.12405G>TSubstitution - coding silent
FGL2ENSG00000127951ENST00000248598p.K294Kc.882G>ASubstitution - coding silent
PLXNA3ENSG00000130827ENST00000369682p.C5Cc.15C>TSubstitution - coding silent
NXPH1ENSG00000122584ENST00000405863p.G159Dc.476G>ASubstitution - Missense
ABCB1ENSG00000085563ENST00000265724p.Y116Fc.347A>TSubstitution - Missense
ENST00000381114p.I357Vc.1069A>GSubstitution - Missense
SCG2ENSG00000171951ENST00000305409p.Q214Rc.641A>GSubstitution - Missense
STK11IPENSG00000144589ENST00000295641p.T146Tc.438C>ASubstitution - coding silent
ENST00000426736p.T143Tc.429C>ASubstitution - coding silent
CHRNDENSG00000135902ENST00000258385p.R418Cc.1252C>TSubstitution - Missense
SP110ENSG00000135899ENST00000258381p.R253Rc.757A>CSubstitution - coding silent
SP110ENSG00000135899ENST00000540870p.R259Rc.775A>CSubstitution - coding silent
SDAD1ENSG00000198301ENST00000356260p.V377Lc.1129G>TSubstitution - Missense
SLC4A4ENSG00000080493ENST00000425175p.?c.2938-7C>AUnknown
MT1MENSG00000205364ENST00000379818p.P38Pc.114C>TSubstitution - coding silent
RPGRIP1LENSG00000103494ENST00000379925p.T677Ic.2030C>TSubstitution - Missense
TOX3ENSG00000103460ENST00000407228p.P273Pc.819C>ASubstitution - coding silent
TOX3ENSG00000103460ENST00000219746p.P278Pc.834C>ASubstitution - coding silent
KRTAP4-6ENSG00000198090ENST00000345847p.R106Rc.318T>CSubstitution - coding silent
EVA1CENSG00000166979ENST00000300255p.F393Ic.1177T>ASubstitution - Missense
MRPL39ENSG00000154719ENST00000307301p.G19Rc.55G>CSubstitution - Missense
KLHL5ENSG00000109790ENST00000504108p.R616Hc.1847G>ASubstitution - Missense
ENST00000400482p.F222Fc.666C>TSubstitution - coding silent
BSNENSG00000164061ENST00000296452p.Q3367Kc.10099C>ASubstitution - Missense
MST1ENSG00000173531ENST00000449682p.L586Lc.1758C>TSubstitution - coding silent
ATP10DENSG00000145246ENST00000273859p.R451Gc.1351C>GSubstitution - Missense
PRLENSG00000172179ENST00000306482p.A144Ac.432T>CSubstitution - coding silent
KDM1BENSG00000165097ENST00000388870p.Y545Yc.1635C>TSubstitution - coding silent
ERMARDENSG00000130023ENST00000366773p.S446Nc.1337G>ASubstitution - Missense
ENST00000366809p.R759Cc.2275C>TSubstitution - Missense
MLLT4ENSG00000130396ENST00000366806p.R775Cc.2323C>TSubstitution - Missense
TTLL2ENSG00000120440ENST00000239587p.W141Lc.422G>TSubstitution - Missense
SLC13A4ENSG00000164707ENST00000354042p.G380Gc.1140A>TSubstitution - coding silent
EPHB6ENSG00000106123ENST00000392957p.V699Lc.2095G>TSubstitution - Missense
EPHB6ENSG00000106123ENST00000392957p.R133Hc.398G>ASubstitution - Missense
MGAMENSG00000257335ENST00000475668p.?c.2499-8C>AUnknown
MGAMENSG00000257335ENST00000549489p.?c.2499-8C>AUnknown
TRRAPENSG00000196367ENST00000355540p.D2804Yc.8410G>TSubstitution - Missense
PLECENSG00000178209ENST00000322810p.P3050Pc.9150G>ASubstitution - coding silent
PLECENSG00000178209ENST00000354958p.P2891Pc.8673G>ASubstitution - coding silent
ENST00000357934p.S919Fc.2756C>TSubstitution - Missense
ENST00000356067p.S883Fc.2648C>TSubstitution - Missense
ZNF34ENSG00000196378ENST00000343459p.N171Nc.513C>TSubstitution - coding silent
CYHR1ENSG00000187954ENST00000438911p.S339Sc.1017C>TSubstitution - coding silent
ZFHX4ENSG00000091656ENST00000521891p.V1242Vc.3726G>ASubstitution - coding silent
KIR2DL4ENSG00000189013ENST00000345540p.A138Vc.413C>TSubstitution - Missense
KIR2DL4ENSG00000189013ENST00000359085p.A138Vc.413C>TSubstitution - Missense
KIR2DL4ENSG00000189013ENST00000396284p.A136Vc.407C>TSubstitution - Missense
NINLENSG00000101004ENST00000278886p.V1295Vc.3885G>TSubstitution - coding silent
TRMT2AENSG00000099899ENST00000252136p.A50Sc.148G>TSubstitution - Missense
TRMT2AENSG00000099899ENST00000404751p.C26Fc.77G>TSubstitution - Missense
ENSG00000161103ENST00000342005p.E233Kc.697G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.T32460Kc.97379C>ASubstitution - Missense
ENST00000356127p.T32458Kc.97373C>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.T26155Kc.78464C>ASubstitution - Missense
OSBPL6ENSG00000079156ENST00000392505p.P614Pc.1842T>GSubstitution - coding silent
NM_003319p.A16902Dc.50705C>ASubstitution - Missense
TRAF3IP1ENSG00000204104ENST00000373327p.T382Kc.1145C>ASubstitution - Missense
CLK1ENSG00000013441ENST00000434813p.L285Vc.853C>GSubstitution - Missense
SPATS2LENSG00000196141ENST00000409718p.R480Rc.1438C>ASubstitution - coding silent
SPATS2LENSG00000196141ENST00000409718p.R480Rc.1438C>ASubstitution - coding silent
NFKBIZENSG00000144802ENST00000326172p.P168Pc.504C>TSubstitution - coding silent
PPP2R1AENSG00000105568ENST00000322088p.L366Fc.1098G>TSubstitution - Missense
ZNF432ENSG00000256087ENST00000221315p.T113Sc.338C>GSubstitution - Missense
ZNF841ENSG00000197608ENST00000359973p.P205Hc.614C>ASubstitution - Missense
TMEM220ENSG00000187824ENST00000341871p.L133Pc.398T>CSubstitution - Missense
MYH13ENSG00000006788ENST00000252172p.G460Gc.1380G>ASubstitution - coding silent
LAMA5ENSG00000130702ENST00000252999p.D554Yc.1660G>TSubstitution - Missense
LAMA5ENSG00000130702ENST00000252999p.D194fs*43c.576_577insAGInsertion - Frameshift
RTEL1ENSG00000258366ENST00000370018p.?c.1192-1G>TUnknown
RTEL1ENSG00000258366ENST00000508582p.?c.1264-1G>TUnknown
LRP5LENSG00000100068ENST00000402859p.D215Hc.643G>CSubstitution - Missense
HMOX1ENSG00000100292ENST00000216117p.R113Hc.338G>ASubstitution - Missense
FBXO7ENSG00000100225ENST00000266087p.R342Qc.1025G>ASubstitution - Missense
RASGRP3ENSG00000152689ENST00000403687p.Y439Yc.1317C>TSubstitution - coding silent
GALNT14ENSG00000158089ENST00000349752p.E416*c.1246G>TSubstitution - Nonsense
ISM1ENSG00000101230ENST00000262487p.L319Lc.955C>TSubstitution - coding silent
ZNF560ENSG00000198028ENST00000301480p.C406Fc.1217G>TSubstitution - Missense
RALGAPA2ENSG00000188559ENST00000202677p.F210Yc.629T>ASubstitution - Missense
RALGAPA2ENSG00000188559ENST00000430436p.F27Ic.79T>ASubstitution - Missense
DYTNENSG00000232125ENST00000452335p.Q528Kc.1582C>ASubstitution - Missense
DYTNENSG00000232125ENST00000452335p.Q528Kc.1582C>ASubstitution - Missense
NRP2ENSG00000118257ENST00000360409p.G532Gc.1596C>ASubstitution - coding silent
NRP2ENSG00000118257ENST00000272849p.G532Gc.1596C>ASubstitution - coding silent
PARD3BENSG00000116117ENST00000358768p.S631Sc.1893T>ASubstitution - coding silent
FAM171BENSG00000144369ENST00000304698p.Q732Hc.2196G>TSubstitution - Missense
ENST00000344648p.V288Lc.862G>TSubstitution - Missense
ERBB4ENSG00000178568ENST00000402597p.L1275Pc.3824T>CSubstitution - Missense
ENST00000316183p.K229Kc.687G>ASubstitution - coding silent
FAM110BENSG00000169122ENST00000361488p.N115Kc.345C>ASubstitution - Missense
DOCK11ENSG00000147251ENST00000276202p.K406Nc.1218G>CSubstitution - Missense
ERICH1ENSG00000104714ENST00000262109p.D257Dc.771T>CSubstitution - coding silent
HCN2ENSG00000099822ENST00000251287p.P550Tc.1648C>ASubstitution - Missense
WNK2ENSG00000165238ENST00000297954p.F363Lc.1089C>ASubstitution - Missense
NM_032946.1p.Q119Ec.355C>GSubstitution - Missense
UNC13DENSG00000092929ENST00000207549p.V144Lc.430G>TSubstitution - Missense
LRRC48ENSG00000171962ENST00000411504p.S7Pc.19T>CSubstitution - Missense
SYT3ENSG00000213023ENST00000338916p.W80Lc.239G>TSubstitution - Missense
ENST00000246798p.K926Kc.2778G>ASubstitution - coding silent
ITCHENSG00000078747ENST00000374864p.F851Sc.2552T>CSubstitution - Missense
LILRA1ENSG00000104974ENST00000251372p.D413Ec.1239C>GSubstitution - Missense
TTYH1ENSG00000167614ENST00000376530p.P85Sc.253C>TSubstitution - Missense
CEP250ENSG00000126001ENST00000397527p.L1731Lc.5193G>TSubstitution - coding silent
PTPRZ1ENSG00000106278ENST00000393386p.?c.5080+8C>AUnknown
DCAF12ENSG00000198876ENST00000361264p.L373fs*14c.1117_1120delCTGGDeletion - Frameshift
CHMP5ENSG00000086065ENST00000223500p.K11Rc.32A>GSubstitution - Missense
TEKENSG00000120156ENST00000380036p.D823Ec.2469C>ASubstitution - Missense
RPP25LENSG00000164967ENST00000297613p.P79Tc.235C>ASubstitution - Missense
KIF24ENSG00000186638ENST00000402558p.P1188Tc.3562C>ASubstitution - Missense
ENST00000403891p.P670Tc.2008C>ASubstitution - Missense
FLNBENSG00000136068ENST00000295956p.P1080Qc.3239C>ASubstitution - Missense
CACNA2D3ENSG00000157445ENST00000474759p.A706Vc.2117C>TSubstitution - Missense
ABHD17BENSG00000107362ENST00000333421p.C39fs*1c.117_118delTGDeletion - Frameshift
SYNPRENSG00000163630ENST00000295894p.S239Rc.717T>GSubstitution - Missense
SLC7A13ENSG00000164893ENST00000297524p.S310Sc.930A>CSubstitution - coding silent
SLC7A13ENSG00000164893ENST00000419776p.T253Sc.757A>TSubstitution - Missense
EBF2ENSG00000221818ENST00000520164p.D37Ec.111C>ASubstitution - Missense
CCDC180ENSG00000197816ENST00000375202p.?c.721-5C>TUnknown
SLC13A2ENSG00000007216ENST00000444914p.L514Pc.1541T>CSubstitution - Missense
SLC13A2ENSG00000007216ENST00000314669p.L465Pc.1394T>CSubstitution - Missense
TMEM88ENSG00000167874ENST00000301599p.V151Ic.451G>ASubstitution - Missense
ANKRD13BENSG00000198720ENST00000394859p.A511Vc.1532C>TSubstitution - Missense
CCDC178ENSG00000166960ENST00000383096p.I505Ic.1515T>ASubstitution - coding silent
CCDC178ENSG00000166960ENST00000300227p.I505Ic.1515T>ASubstitution - coding silent
DSC1ENSG00000134765ENST00000257198p.F182Lc.546C>ASubstitution - Missense
DSC1ENSG00000134765ENST00000257197p.F182Lc.546C>ASubstitution - Missense
RGL3ENSG00000205517ENST00000380456p.S562Nc.1685G>ASubstitution - Missense
XM_290867.2p.S326Nc.977G>ASubstitution - Missense
DNM2ENSG00000079805ENST00000359692p.T766Nc.2297C>ASubstitution - Missense
DNM2ENSG00000079805ENST00000389253p.T766Nc.2297C>ASubstitution - Missense
KLF1ENSG00000105610ENST00000264834p.A16Tc.46G>ASubstitution - Missense
KRTAP10-11ENSG00000243489ENST00000334670p.C127Fc.380G>TSubstitution - Missense
MBOAT2ENSG00000143797ENST00000305997p.?c.300-5T>CUnknown
ENST00000434864p.Q118Qc.354G>ASubstitution - coding silent
SEMA4CENSG00000168758ENST00000305476p.G63Gc.189G>TSubstitution - coding silent
UGT2A1ENSG00000173610ENST00000503640p.G239Rc.715G>CSubstitution - Missense
UGT2B7ENSG00000171234ENST00000305231p.I384Ic.1152C>ASubstitution - coding silent
UGT2B28ENSG00000135226ENST00000335568p.I188Sc.563T>GSubstitution - Missense
EPHA3ENSG00000044524ENST00000336596p.R639Lc.1916G>TSubstitution - Missense
SDAD1ENSG00000198301ENST00000356260p.V377Ec.1130T>ASubstitution - Missense
TTLL13ENSG00000213471ENST00000438251p.C357Yc.1070G>ASubstitution - Missense
GPATCH2LENSG00000089916ENST00000261530p.S62Nc.185G>ASubstitution - Missense
GPATCH2LENSG00000089916ENST00000312858p.S62Nc.185G>ASubstitution - Missense
SLC18A3ENSG00000187714ENST00000374115p.A181Vc.542C>TSubstitution - Missense
STIP1ENSG00000168439ENST00000305218p.S398Rc.1194C>ASubstitution - Missense
ENST00000438990p.W302fs*36c.903_904insTInsertion - Frameshift
MED8ENSG00000159479ENST00000290663p.P69Pc.207G>ASubstitution - coding silent
GCN1L1ENSG00000089154ENST00000300648p.A2517Vc.7550C>TSubstitution - Missense
LRRC43ENSG00000158113ENST00000339777p.L505Ic.1513C>ASubstitution - Missense
TAS1R3ENSG00000169962ENST00000339381p.L578Pc.1733T>CSubstitution - Missense
FLGENSG00000143631ENST00000368799p.S2208Sc.6624G>TSubstitution - coding silent
ANXA9ENSG00000143412ENST00000368947p.V164Lc.490G>TSubstitution - Missense
UBR1ENSG00000159459ENST00000290650p.G668Vc.2003G>TSubstitution - Missense
FAM151AENSG00000162391ENST00000302250p.S432Sc.1296C>ASubstitution - coding silent
TMEM59ENSG00000116209ENST00000234831p.D224Vc.671A>TSubstitution - Missense
MRPL37ENSG00000116221ENST00000360840p.R39Rc.117G>TSubstitution - coding silent
MDGA2ENSG00000139915ENST00000399232p.Q755Qc.2265G>ASubstitution - coding silent
FSCBENSG00000189139ENST00000340446p.P109Sc.325C>TSubstitution - Missense
C1orf177ENSG00000162398ENST00000358193p.P69Sc.205C>TSubstitution - Missense
FRMD6ENSG00000139926ENST00000344768p.Y133Yc.399C>TSubstitution - coding silent
FRMD6ENSG00000139926ENST00000395718p.Y125Yc.375C>TSubstitution - coding silent
SPRR1AENSG00000169474ENST00000368762p.H50Qc.150C>GSubstitution - Missense
FLGENSG00000143631ENST00000368799p.G964Ac.2891G>CSubstitution - Missense
RIT1ENSG00000143622ENST00000368323p.R105Lc.314G>TSubstitution - Missense
WDR72ENSG00000166415ENST00000396328p.T386Nc.1157C>ASubstitution - Missense
MYO5CENSG00000128833ENST00000261839p.R1198Cc.3592C>TSubstitution - Missense
SLC27A2ENSG00000140284ENST00000267842p.?c.1687-9G>AUnknown
SLC26A9ENSG00000174502ENST00000367134p.?c.126-9C>TUnknown
CHIT1ENSG00000133063ENST00000367229p.S345Sc.1035C>TSubstitution - coding silent
RORAENSG00000069667ENST00000309157p.V404Vc.1212G>TSubstitution - coding silent
BNIP2ENSG00000140299ENST00000267859p.F216Fc.648T>CSubstitution - coding silent
MYO1EENSG00000157483ENST00000288235p.G117Gc.351A>TSubstitution - coding silent
PRTGENSG00000166450ENST00000389286p.Q649Kc.1945C>ASubstitution - Missense
PRTGENSG00000166450ENST00000389286p.S275Sc.825C>TSubstitution - coding silent
AACSENSG00000081760ENST00000316519p.T362Kc.1085C>ASubstitution - Missense
LRP6ENSG00000070018ENST00000261349p.D379Vc.1136A>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313382p.S758Sc.2274C>ASubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313431p.S855Sc.2565C>ASubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369354p.S989Ac.2965T>GSubstitution - Missense
PRDM2ENSG00000116731ENST00000235372p.I555Vc.1663A>GSubstitution - Missense
GPR153ENSG00000158292ENST00000377893p.V131Ic.391G>ASubstitution - Missense
AK5ENSG00000154027ENST00000354567p.S348Yc.1043C>ASubstitution - Missense
CEP128ENSG00000100629ENST00000281129p.R369Tc.1106G>CSubstitution - Missense
SGPP1ENSG00000126821ENST00000247225p.M383Ic.1149G>TSubstitution - Missense
UNC79ENSG00000133958ENST00000256339p.T2316Ac.6946A>GSubstitution - Missense
UNC79ENSG00000133958ENST00000553484p.T2515Ac.7543A>GSubstitution - Missense
LGMNENSG00000100600ENST00000334869p.N158Sc.473A>GSubstitution - Missense
IGDCC4ENSG00000103742ENST00000352385p.V647Mc.1939G>ASubstitution - Missense
CLN6ENSG00000128973ENST00000249806p.L189Fc.565C>TSubstitution - Missense
ITGA11ENSG00000137809ENST00000315757p.A110Tc.328G>ASubstitution - Missense
TIPINENSG00000075131ENST00000261881p.Q248Rc.743A>GSubstitution - Missense
DPYDENSG00000188641ENST00000370192p.L710Mc.2128C>ASubstitution - Missense
ARHGAP11AENSG00000198826ENST00000361627p.L435Lc.1303C>TSubstitution - coding silent
SACSENSG00000151835ENST00000382298p.I2432fs*41c.7294_7300delATATGGADeletion - Frameshift
NM_014363.3p.I2285fs*41c.6853_6859delATATGGADeletion - Frameshift
SPEF2ENSG00000152582ENST00000356031p.V610Lc.1828G>CSubstitution - Missense
HAGHLENSG00000103253ENST00000389703p.E216Ec.648G>ASubstitution - coding silent
HOXB5ENSG00000120075ENST00000239151p.G27Sc.79G>ASubstitution - Missense
ENST00000262017p.S379Sc.1137T>CSubstitution - coding silent
ITGB3ENSG00000259207ENST00000435993p.S332Sc.996T>CSubstitution - coding silent
ZDHHC7ENSG00000153786ENST00000564466p.R191Lc.572G>TSubstitution - Missense
ZDHHC7ENSG00000153786ENST00000313732p.R154Lc.461G>TSubstitution - Missense
ACSF2ENSG00000167107ENST00000300441p.L163fs*68c.488_489delTGDeletion - Frameshift
C20orf26ENSG00000089101ENST00000245957p.K1095Ec.3283A>GSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.V2272Lc.6814G>CSubstitution - Missense
OR5B17ENSG00000197786ENST00000357377p.D294Dc.882C>TSubstitution - coding silent
ZP4ENSG00000116996ENST00000366570p.Q365Kc.1093C>ASubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.A2542Ac.7626T>GSubstitution - coding silent
RYR2ENSG00000198626ENST00000366574p.N1484Sc.4451A>GSubstitution - Missense
KIAA1598ENSG00000187164ENST00000260777p.A29Sc.85G>TSubstitution - Missense
NOLC1ENSG00000166197ENST00000370007p.A205Ac.615A>GSubstitution - coding silent
CPN1ENSG00000120054ENST00000370418p.R322Qc.965G>ASubstitution - Missense
CLEC1BENSG00000165682ENST00000298527p.?c.545+9C>TUnknown
WNK1ENSG00000060237ENST00000537687p.G2431Gc.7293C>ASubstitution - coding silent
NM_018979p.G2171Gc.6513C>ASubstitution - coding silent
SBF2ENSG00000133812ENST00000256190p.K1578Rc.4733A>GSubstitution - Missense
CNTN1ENSG00000018236ENST00000551295p.V827Fc.2479G>TSubstitution - Missense
CNTN1ENSG00000018236ENST00000551295p.D167Dc.501T>CSubstitution - coding silent
UTP20ENSG00000120800ENST00000261637p.N2640Kc.7920C>ASubstitution - Missense
NM_006105.3p.V558Mc.1672G>ASubstitution - Missense
NM_006105.3p.?c.376+9G>AUnknown
RAPGEF3ENSG00000079337ENST00000395358p.?c.502+9G>AUnknown
ADAMTS20ENSG00000173157ENST00000389420p.P495Hc.1484C>ASubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.P495Hc.1484C>ASubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.?c.3382-8C>GUnknown
KDM5AENSG00000073614ENST00000399788p.E663Qc.1987G>CSubstitution - Missense
NM_005056.1p.E663Qc.1987G>CSubstitution - Missense
BRCA2ENSG00000139618ENST00000544455p.V2333Ac.6998T>CSubstitution - Missense
MROH9ENSG00000117501ENST00000367759p.D480Yc.1438G>TSubstitution - Missense
ENST00000367790p.Y90Yc.270C>TSubstitution - coding silent
BLZF1ENSG00000117475ENST00000367808p.K4Ic.11A>TSubstitution - Missense
NPAP1ENSG00000185823ENST00000329468p.L948*c.2843T>GSubstitution - Nonsense
AGO4ENSG00000134698ENST00000373210p.G184Gc.552G>ASubstitution - coding silent
ENST00000299136p.K48Nc.144A>CSubstitution - Missense
EPHA2ENSG00000142627ENST00000358432p.G531Vc.1592G>TSubstitution - Missense
DDR2ENSG00000162733ENST00000367922p.E79*c.235G>TSubstitution - Nonsense
ASTN1ENSG00000152092ENST00000361833p.S368Nc.1103G>ASubstitution - Missense
ASTN1ENSG00000152092ENST00000361833p.V1127Ec.3380T>ASubstitution - Missense
PADI4ENSG00000159339ENST00000375448p.R609Hc.1826G>ASubstitution - Missense
SYT8ENSG00000149043ENST00000381968p.?c.301-150_611del742Unknown
MDM1ENSG00000111554ENST00000303145p.S398Nc.1193G>ASubstitution - Missense
ENST00000299218p.E81Kc.241G>ASubstitution - Missense
PTPRBENSG00000127329ENST00000334414p.?c.5778+4C>TUnknown
LRRC23ENSG00000010626ENST00000007969p.?c.621+4G>TUnknown
LRRC23ENSG00000010626ENST00000323702p.?c.621+4G>TUnknown
DYRK2ENSG00000127334ENST00000344096p.?c.50-7C>TUnknown
NM_182557.1p.T1034Nc.3101C>ASubstitution - Missense
ENST00000392849p.T1034Nc.3101C>ASubstitution - Missense
KMT2AENSG00000118058ENST00000534358p.K1225Nc.3675G>TSubstitution - Missense
MMP8ENSG00000118113ENST00000236826p.R312Kc.935G>ASubstitution - Missense
ABCG4ENSG00000172350ENST00000307417p.N422Kc.1266C>ASubstitution - Missense
PPP2R1BENSG00000137713ENST00000311129p.?c.844-5T>CUnknown
ARHGAP20ENSG00000137727ENST00000260283p.P1125Tc.3373C>ASubstitution - Missense
GRIA4ENSG00000152578ENST00000282499p.N748Nc.2244T>CSubstitution - coding silent
GRIA4ENSG00000152578ENST00000393127p.N748Nc.2244T>CSubstitution - coding silent
WDR77ENSG00000116455ENST00000235090p.H310Qc.930C>GSubstitution - Missense
GSTM4ENSG00000168765ENST00000369836p.H68Pc.203A>CSubstitution - Missense
SYPL2ENSG00000143028ENST00000369872p.S52fs*38c.152_159delGGTCCTGTDeletion - Frameshift
ENST00000444143_v68p.I637Tc.1910T>CSubstitution - Missense
ASPMENSG00000066279ENST00000367409p.A1468Tc.4402G>ASubstitution - Missense
RGS2ENSG00000116741ENST00000235382p.Q196Rc.587A>GSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.N4074Dc.12220A>GSubstitution - Missense
GAD2ENSG00000136750ENST00000259271p.A72Vc.215C>TSubstitution - Missense
PIP4K2AENSG00000150867ENST00000376573p.S126Fc.377C>TSubstitution - Missense
ELMSAN1ENSG00000156030ENST00000286523p.P254_Q260delPQQQQQQc.759_779del21Deletion - In frame
SMOC1ENSG00000198732ENST00000361956p.W137Lc.410G>TSubstitution - Missense
RDH11ENSG00000072042ENST00000381346p.L190Lc.570G>TSubstitution - coding silent
TTLL13ENSG00000213471ENST00000339615p.C357Yc.1070G>ASubstitution - Missense
PXDNENSG00000130508ENST00000252804p.V450Mc.1348G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P3458Lc.10373C>TSubstitution - Missense
SULT1B1ENSG00000173597ENST00000310613p.G260Wc.778G>TSubstitution - Missense
F8ENSG00000185010ENST00000360256p.S700Lc.2099C>TSubstitution - Missense
ENST00000361316p.V1419Vc.4257C>TSubstitution - coding silent
PCDHB10ENSG00000120324ENST00000239446p.G31*c.91G>TSubstitution - Nonsense
SEMA4DENSG00000187764ENST00000450295p.D372Nc.1114G>ASubstitution - Missense
XIRP2ENSG00000163092ENST00000295237p.A468Ec.1403C>ASubstitution - Missense
WSB2ENSG00000176871ENST00000315436p.S220Lc.659C>TSubstitution - Missense
ITPR2ENSG00000123104ENST00000381340p.R2063Ic.6188G>TSubstitution - Missense
NDUFB8ENSG00000166136ENST00000299166p.R81Cc.241C>TSubstitution - Missense
SLX4IPENSG00000149346ENST00000334534p.T180Rc.539C>GSubstitution - Missense
PDE4CENSG00000105650ENST00000355502p.P112Lc.335C>TSubstitution - Missense
ZNF439ENSG00000171291ENST00000304030p.R398Qc.1193G>ASubstitution - Missense
PTPRQENSG00000139304ENST00000266688p.R2235Ic.6704G>TSubstitution - Missense
PCDH15ENSG00000150275ENST00000395438p.P833Tc.2497C>ASubstitution - Missense
MT1HENSG00000205358ENST00000332374p.P38Pc.114C>TSubstitution - coding silent
CHST1ENSG00000175264ENST00000308064p.T270Mc.809C>TSubstitution - Missense
CARD14ENSG00000141527ENST00000573882p.R472Hc.1415G>ASubstitution - Missense
TRAP1ENSG00000126602ENST00000246957p.R658Cc.1972C>TSubstitution - Missense
ANK3ENSG00000151150ENST00000280772p.R211Qc.632G>ASubstitution - Missense
PIGRENSG00000162896ENST00000356495p.?c.2141-8_2154del22Unknown
PIGRENSG00000162896ENST00000356495p.P291Qc.872C>ASubstitution - Missense
RASSF5ENSG00000136653ENST00000304534p.R94Qc.281G>ASubstitution - Missense
NEK2ENSG00000117650ENST00000366999p.N393Kc.1179C>ASubstitution - Missense
RCOR3ENSG00000117625ENST00000419091p.G58Gc.174G>TSubstitution - coding silent
SEMA7AENSG00000138623ENST00000261918p.E186*c.556G>TSubstitution - Nonsense
TIMELESSENSG00000111602ENST00000553532p.Y25fs*7c.72_75delTTACDeletion - Frameshift
ENST00000446175_v65p.Q215Lc.644A>TSubstitution - Missense
LINGO1ENSG00000169783ENST00000355300p.L482Lc.1446G>ASubstitution - coding silent
PCDH17ENSG00000118946ENST00000377918p.E564*c.1690G>TSubstitution - Nonsense
SLITRK6ENSG00000184564ENST00000400286p.P327Tc.979C>ASubstitution - Missense
CDC14AENSG00000079335ENST00000336454p.E326Gc.977A>GSubstitution - Missense
AGLENSG00000162688ENST00000370163p.L663Sc.1988T>CSubstitution - Missense
FZD8ENSG00000177283ENST00000374694p.P247Sc.739C>TSubstitution - Missense
KCNMA1ENSG00000156113ENST00000406533p.H655Nc.1963C>ASubstitution - Missense
WNT3AENSG00000154342ENST00000284523p.Q52Kc.154C>ASubstitution - Missense
BTAF1ENSG00000095564ENST00000265990p.V1044Mc.3130G>ASubstitution - Missense
RRP12ENSG00000052749ENST00000370992p.P835Sc.2503C>TSubstitution - Missense
TM9SF3ENSG00000077147ENST00000371142p.S200*c.599C>ASubstitution - Nonsense
KCNJ1ENSG00000151704ENST00000392664p.G127Gc.381C>TSubstitution - coding silent
OR4B1ENSG00000175619ENST00000309562p.Q137Hc.411A>TSubstitution - Missense
OR4B1ENSG00000175619ENST00000309562p.S260fs*21c.777delTDeletion - Frameshift
PSMC3ENSG00000165916ENST00000298852p.L139Lc.417G>ASubstitution - coding silent
LRIG3ENSG00000139263ENST00000320743p.F464Cc.1391T>GSubstitution - Missense
ALX1ENSG00000180318ENST00000316824p.?c.660+3A>GUnknown
TRIM17ENSG00000162931ENST00000366697p.V186Lc.556G>TSubstitution - Missense
TRIM17ENSG00000162931ENST00000456946p.V186Lc.556G>TSubstitution - Missense
HEATR1ENSG00000119285ENST00000366582p.F2005delFc.6013_6015delTTTDeletion - In frame
CMASENSG00000111726ENST00000229329p.?c.403+10T>CUnknown
ATF7IPENSG00000171681ENST00000261168p.N684Nc.2052T>CSubstitution - coding silent
CACNB3ENSG00000167535ENST00000536187p.W102*c.306G>ASubstitution - Nonsense
IL16ENSG00000172349ENST00000302987p.P936Rc.2807C>GSubstitution - Missense
KRT6BENSG00000185479ENST00000252252p.F297Ic.889T>ASubstitution - Missense
SCN8AENSG00000196876ENST00000354534p.V1277Vc.3831C>GSubstitution - coding silent
EPS8L2ENSG00000177106ENST00000318562p.?c.2068-3T>AUnknown
NTRK3ENSG00000140538ENST00000360948p.K797Ec.2389A>GSubstitution - Missense
NTRK3ENSG00000140538ENST00000394480p.K783Ec.2347A>GSubstitution - Missense
C2CD3ENSG00000168014ENST00000313663p.Q670*c.2008C>TSubstitution - Nonsense
C2CD3ENSG00000168014ENST00000334126p.Q670*c.2008C>TSubstitution - Nonsense
ARHGEF17ENSG00000110237ENST00000263674p.S1949Lc.5846C>TSubstitution - Missense
CTBP2ENSG00000175029ENST00000309035p.P63Pc.189C>GSubstitution - coding silent
TDRD9ENSG00000156414ENST00000339063p.L878Mc.2632C>ASubstitution - Missense
AMNENSG00000166126ENST00000299155p.P42Qc.125C>ASubstitution - 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