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T-Tn - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1912 mutations reported
716 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
MEP1AENSG00000112818ENST00000230588p.G312Dc.935G>ASubstitution - Missense
ENST00000291449p.Y446Yc.1338C>TSubstitution - coding silent
ENST00000324717p.H36Hc.108C>TSubstitution - coding silent
KCNMA1ENSG00000156113ENST00000372443p.D899Yc.2695G>TSubstitution - Missense
TSKSENSG00000126467ENST00000358830p.L333Lc.999G>ASubstitution - coding silent
GOLGA6BENSG00000215186ENST00000421285p.R208Qc.623G>ASubstitution - Missense
CLCNKBENSG00000184908ENST00000375667p.L218Lc.654G>TSubstitution - coding silent
TMEM79ENSG00000163472ENST00000357501p.G124Cc.370G>TSubstitution - Missense
TJAP1ENSG00000137221ENST00000372445p.S184Sc.552C>TSubstitution - coding silent
ZNF638ENSG00000075292ENST00000377802p.P275Pc.825C>TSubstitution - coding silent
TACC1ENSG00000147526ENST00000379931p.A211Tc.631G>ASubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.D379Nc.1135G>ASubstitution - Missense
SMEK2ENSG00000138041ENST00000345102p.D485Hc.1453G>CSubstitution - Missense
ENSG00000180574ENST00000322446p.G48Ac.143G>CSubstitution - Missense
ACANENSG00000157766ENST00000439576p.V1382Lc.4144G>CSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.L6541Lc.19621C>TSubstitution - coding silent
PITPNM1ENSG00000110697ENST00000534749p.G530Dc.1589G>ASubstitution - Missense
AP4B1ENSG00000134262ENST00000369569p.N196Yc.586A>TSubstitution - Missense
PSAPENSG00000197746ENST00000394936p.?c.577-10T>CUnknown
ADAMTS8ENSG00000134917ENST00000257359p.C507Yc.1520G>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000395438p.?c.3501+7G>AUnknown
ENSG00000239810ENST00000436041p.A85Vc.254C>TSubstitution - Missense
NFIAENSG00000162599ENST00000485903p.?c.1255-8C>GUnknown
RIN3ENSG00000100599ENST00000216487p.G31Dc.92G>ASubstitution - Missense
SERPINA12ENSG00000165953ENST00000556881p.H282Hc.846C>TSubstitution - coding silent
VPS13CENSG00000129003ENST00000395896p.I670Vc.2008A>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.P1755Pc.5265T>ASubstitution - coding silent
PLD2ENSG00000129219ENST00000263088p.N141Sc.422A>GSubstitution - Missense
GAREMENSG00000141441ENST00000269209p.H73Rc.218A>GSubstitution - Missense
PON2ENSG00000105854ENST00000222572p.?c.777+5A>CUnknown
LIMCH1ENSG00000064042ENST00000503057p.V1051Vc.3153G>ASubstitution - coding silent
LRRC3CENSG00000204913ENST00000377924p.R131Cc.391C>TSubstitution - Missense
PYCARDENSG00000103490ENST00000247470p.T142Tc.426G>TSubstitution - coding silent
ZNF528ENSG00000167555ENST00000360465p.M37Ic.111G>TSubstitution - Missense
HECW2ENSG00000138411ENST00000260983p.Q575Kc.1723C>ASubstitution - Missense
ENST00000295142p.P29Rc.86C>GSubstitution - Missense
RTN4RENSG00000040608ENST00000043402p.R139Hc.416G>ASubstitution - Missense
ENST00000424015p.L164Lc.490C>TSubstitution - coding silent
TSSK1BENSG00000212122ENST00000390666p.S213Fc.638C>TSubstitution - Missense
EEFSECENSG00000132394ENST00000254730p.R591Rc.1773C>TSubstitution - coding silent
MCM2ENSG00000073111ENST00000265056p.K807Rc.2420A>GSubstitution - Missense
ENST00000373924p.C111Cc.333C>TSubstitution - coding silent
BCL7CENSG00000099385ENST00000380317p.G85Gc.255C>TSubstitution - coding silent
RTTNENSG00000176225ENST00000255674p.S197Nc.590G>ASubstitution - Missense
SULT6B1ENSG00000138068ENST00000260637p.Q178*c.532C>TSubstitution - Nonsense
WDR87ENSG00000171804ENST00000447313p.N826fs*48c.2475_2476insCInsertion - Frameshift
PDGFRBENSG00000113721ENST00000261799p.L85Lc.255C>TSubstitution - coding silent
P4HA2ENSG00000072682ENST00000379100p.S60Rc.180C>GSubstitution - Missense
ZSCAN12ENSG00000158691ENST00000361028p.T513Tc.1539G>ASubstitution - coding silent
PCDHB7ENSG00000113212ENST00000231137p.E623Ec.1869G>ASubstitution - coding silent
ZNF76ENSG00000065029ENST00000373953p.R166Hc.497G>ASubstitution - Missense
RPP40ENSG00000124787ENST00000380051p.S53Sc.159G>ASubstitution - coding silent
CHD6ENSG00000124177ENST00000373233p.Q44*c.130C>TSubstitution - Nonsense
GRM7ENSG00000196277ENST00000403881p.V65Ec.194T>ASubstitution - Missense
EML2ENSG00000125746ENST00000536630p.A354Sc.1060G>TSubstitution - Missense
TMEM130ENSG00000166448ENST00000416379p.T77Nc.230C>ASubstitution - Missense
TENM2ENSG00000145934ENST00000545108p.L1464Vc.4390C>GSubstitution - Missense
RAI14ENSG00000039560ENST00000397449p.S38Ic.113G>TSubstitution - Missense
SEMA6CENSG00000143434ENST00000368913p.T294Tc.882T>GSubstitution - coding silent
MED24ENSG00000008838ENST00000394128p.D693Yc.2077G>TSubstitution - Missense
HSP90AA1ENSG00000080824ENST00000441629p.?c.949+3_951del243Unknown
GRM7ENSG00000196277ENST00000357716p.V65Ec.194T>ASubstitution - Missense
POM121ENSG00000196313ENST00000434423p.S941Gc.2821A>GSubstitution - Missense
AASDHENSG00000157426ENST00000502617p.I675Mc.2025T>GSubstitution - Missense
HPS3ENSG00000163755ENST00000296051p.G598Gc.1794A>GSubstitution - coding silent
TUBGCP6ENSG00000128159ENST00000248846p.V1229Ic.3685G>ASubstitution - Missense
LRRC63ENSG00000173988ENST00000446175p.H454fs*4c.1356delCDeletion - Frameshift
UGGT2ENSG00000102595ENST00000376747p.Y1355Yc.4065T>CSubstitution - coding silent
TRAFD1ENSG00000135148ENST00000412615p.R183Qc.548G>ASubstitution - Missense
TMPRSS12ENSG00000186452ENST00000398458p.S76Yc.227C>ASubstitution - Missense
E2F7ENSG00000165891ENST00000322886p.R101Qc.302G>ASubstitution - Missense
OR6N1ENSG00000197403ENST00000335094p.R54Rc.162G>CSubstitution - coding silent
EXOC6ENSG00000138190ENST00000260762p.V129Vc.387A>GSubstitution - coding silent
ZBTB40ENSG00000184677ENST00000404138p.A179Ac.537C>TSubstitution - coding silent
ENST00000408907_v68p.D143Nc.427G>ASubstitution - Missense
ENST00000375089p.T147Pc.439A>CSubstitution - Missense
PAPPA2ENSG00000116183ENST00000367662p.L148Lc.444C>TSubstitution - coding silent
ZNF648ENSG00000179930ENST00000339948p.S59Fc.176C>TSubstitution - Missense
AXDND1ENSG00000162779ENST00000367618p.T9Ic.26C>TSubstitution - Missense
CLCA1ENSG00000016490ENST00000234701p.?c.2114-9T>AUnknown
BMP4ENSG00000125378ENST00000559087p.K75Rc.224A>GSubstitution - Missense
EXD1ENSG00000178997ENST00000314992p.K151Tc.452A>CSubstitution - Missense
MAPK1IP1LENSG00000168175ENST00000395468p.P43Rc.128C>GSubstitution - Missense
SLC25A5ENSG00000005022ENST00000317881p.?c.598_599-2del225Unknown
CCDC160ENSG00000203952ENST00000517294p.Y201Cc.602A>GSubstitution - Missense
RUFY4ENSG00000188282ENST00000374155p.R76Qc.227G>ASubstitution - Missense
RALGAPA2ENSG00000188559ENST00000202677p.R551Cc.1651C>TSubstitution - Missense
VWDEENSG00000146530ENST00000275358p.I672Vc.2014A>GSubstitution - Missense
CASS4ENSG00000087589ENST00000360314p.P393Lc.1178C>TSubstitution - Missense
ENST00000300671p.P1427Lc.4280C>TSubstitution - Missense
FAM178BENSG00000168754ENST00000417561p.R715Rc.2145G>ASubstitution - coding silent
ZNF750ENSG00000141579ENST00000269394p.G606Ac.1817G>CSubstitution - Missense
SMARCA4ENSG00000127616ENST00000358026p.N1486Hc.4456A>CSubstitution - Missense
PLECENSG00000178209ENST00000436759p.G50Gc.150G>TSubstitution - coding silent
HIST1H1EENSG00000168298ENST00000304218p.K159*c.475A>TSubstitution - Nonsense
DENND2AENSG00000146966ENST00000275884p.Q505Pc.1514A>CSubstitution - Missense
TIAM1ENSG00000156299ENST00000286827p.E632Kc.1894G>ASubstitution - Missense
BBXENSG00000114439ENST00000325805p.L920Lc.2760C>TSubstitution - coding silent
AKAP9ENSG00000127914ENST00000356239p.M1879Tc.5636T>CSubstitution - Missense
NM_173357.2p.T66Nc.197C>ASubstitution - Missense
DEPDC5ENSG00000100150ENST00000400248p.T945Tc.2835C>TSubstitution - coding silent
TBC1D9BENSG00000197226ENST00000355235p.E611Dc.1833G>TSubstitution - Missense
ENST00000330166p.I1440Vc.4318A>GSubstitution - Missense
SBK2ENSG00000187550ENST00000413299p.R40Sc.118C>ASubstitution - Missense
NHSENSG00000188158ENST00000398097p.N726Nc.2178C>TSubstitution - coding silent
NOX3ENSG00000074771ENST00000159060p.L333Rc.998T>GSubstitution - Missense
RAET1LENSG00000155918ENST00000367341p.W22Cc.66G>CSubstitution - Missense
NUP210ENSG00000132182ENST00000254508p.S659Sc.1977A>GSubstitution - coding silent
NM_001371.1p.?c.10139+2T>CUnknown
ZHX2ENSG00000178764ENST00000314393p.Q531*c.1591C>TSubstitution - Nonsense
APOL3ENSG00000128284ENST00000349314p.V357Ec.1070T>ASubstitution - Missense
PDGFRBENSG00000113721ENST00000261799p.S712Sc.2136C>TSubstitution - coding silent
SLC3A1ENSG00000138079ENST00000260649p.F211Fc.633C>TSubstitution - coding silent
P4HA2ENSG00000072682ENST00000166534p.S60Rc.180C>GSubstitution - Missense
ZHX1ENSG00000165156ENST00000395571p.E129Dc.387G>CSubstitution - Missense
TRIM31ENSG00000204616ENST00000376734p.L272Lc.814C>TSubstitution - coding silent
HLA-CENSG00000204525ENST00000383329p.A159Ac.477C>TSubstitution - coding silent
LCA5ENSG00000135338ENST00000392959p.E435Dc.1305G>TSubstitution - Missense
PCDHGB2ENSG00000253910ENST00000522605p.R535Hc.1604G>ASubstitution - Missense
NEBENSG00000183091ENST00000397345p.R2812Hc.8435G>ASubstitution - Missense
MCF2ENSG00000101977ENST00000370576p.D42Dc.126C>TSubstitution - coding silent
ANGPTL2ENSG00000136859ENST00000373425p.G48Gc.144C>GSubstitution - coding silent
AUP1ENSG00000115307ENST00000377526p.L188Vc.562C>GSubstitution - Missense
LRRTM4ENSG00000176204ENST00000409911p.R568Lc.1703G>TSubstitution - Missense
SLC9A9ENSG00000181804ENST00000316549p.C83Gc.247T>GSubstitution - Missense
DYSFENSG00000135636ENST00000410020p.?c.3228+7C>TUnknown
PDE6DENSG00000156973ENST00000287600p.N18Tc.53A>CSubstitution - Missense
RS1ENSG00000102104ENST00000379984p.S134Sc.402A>GSubstitution - coding silent
ADCY2ENSG00000078295ENST00000338316p.S704Sc.2112A>GSubstitution - coding silent
MYO1DENSG00000176658ENST00000318217p.A120Ac.360G>ASubstitution - coding silent
ZNF585AENSG00000196967ENST00000392157p.M204Ic.612G>TSubstitution - Missense
BCHEENSG00000114200ENST00000264381p.K527Ic.1580A>TSubstitution - Missense
PKHD1L1ENSG00000205038ENST00000378402p.T1850Ac.5548A>GSubstitution - Missense
POU6F2ENSG00000106536ENST00000403058p.G365Gc.1095C>ASubstitution - coding silent
CREB3L3ENSG00000060566ENST00000078445p.L297Lc.891G>TSubstitution - coding silent
ENGENSG00000106991ENST00000344849p.V125Ac.374T>CSubstitution - Missense
CYP21A2ENSG00000231852ENST00000418967p.L308fs*15c.917delTDeletion - Frameshift
BRICD5ENSG00000182685ENST00000328540p.?c.52-8A>CUnknown
APOA1BPENSG00000163382ENST00000368233p.L89Lc.267G>TSubstitution - coding silent
TGENSG00000042832ENST00000220616p.N2616Ic.7847A>TSubstitution - Missense
RAF1ENSG00000132155ENST00000442415p.T563Tc.1689G>CSubstitution - coding silent
FAM149AENSG00000109794ENST00000356371p.A587Tc.1759G>ASubstitution - Missense
SLC13A3ENSG00000158296ENST00000372121p.Y251Yc.753C>TSubstitution - coding silent
MCUENSG00000156026ENST00000357157p.K288fs*6c.859delADeletion - Frameshift
MRS2ENSG00000124532ENST00000443868p.L420Lc.1258C>TSubstitution - coding silent
ANKRD30AENSG00000148513ENST00000602533p.I535Vc.1603A>GSubstitution - Missense
MTPAPENSG00000107951ENST00000358107p.G431Vc.1292G>TSubstitution - Missense
BMS1ENSG00000165733ENST00000374518p.D506Nc.1516G>ASubstitution - Missense
E2F7ENSG00000165891ENST00000322886p.R101Qc.302G>ASubstitution - Missense
E2F7ENSG00000165891ENST00000322886p.I12Ic.36C>ASubstitution - coding silent
CHRNA7ENSG00000175344ENST00000437966p.P258Pc.774C>TSubstitution - coding silent
DAGLAENSG00000134780ENST00000257215p.N252Nc.756C>TSubstitution - coding silent
OR56B4ENSG00000180919ENST00000316529p.A131Pc.391G>CSubstitution - Missense
SDSENSG00000135094ENST00000257549p.V190Vc.570C>TSubstitution - coding silent
CCDC88BENSG00000168071ENST00000359902p.R570Qc.1709G>ASubstitution - Missense
TM7SF2ENSG00000149809ENST00000279263p.M223Tc.668T>CSubstitution - Missense
DFFAENSG00000160049ENST00000377036p.E202Ec.606G>ASubstitution - coding silent
STRIP1ENSG00000143093ENST00000369795p.R777Hc.2330G>ASubstitution - Missense
PRMT6ENSG00000198890ENST00000370078p.F207Fc.621C>TSubstitution - coding silent
CACNA1HENSG00000196557ENST00000358590p.T2283Tc.6849C>TSubstitution - coding silent
OR4F5ENSG00000186092ENST00000335137p.T217Tc.651C>ASubstitution - coding silent
PIDDENSG00000177595ENST00000347755p.L132Vc.394C>GSubstitution - Missense
SEMA6DENSG00000137872ENST00000316364p.T839Mc.2516C>TSubstitution - Missense
MAP2ENSG00000078018ENST00000360351p.V1295fs*4c.3882_3886delAGTGCDeletion - Frameshift
FRG2CENSG00000172969ENST00000308062p.G44Gc.132C>TSubstitution - coding silent
CCDC57ENSG00000176155ENST00000389641p.?c.1374+9G>AUnknown
PITPNM3ENSG00000091622ENST00000262483p.E117Kc.349G>ASubstitution - Missense
ENTPD6ENSG00000197586ENST00000376652p.V226Ic.676G>ASubstitution - Missense
NM_003319p.R19524Sc.58572G>CSubstitution - Missense
FAM104AENSG00000133193ENST00000405159p.A24Ac.72T>GSubstitution - coding silent
EPHA6ENSG00000080224ENST00000389672p.L342Rc.1025T>GSubstitution - Missense
MYT1ENSG00000196132ENST00000360149p.H580Hc.1740T>CSubstitution - coding silent
USP45ENSG00000123552ENST00000500704p.L814Lc.2442A>GSubstitution - coding silent
NHSENSG00000188158ENST00000380060p.N882Nc.2646C>TSubstitution - coding silent
FGD2ENSG00000146192ENST00000274963p.R251Hc.752G>ASubstitution - Missense
CASRENSG00000036828ENST00000296154p.H344Yc.1030C>TSubstitution - Missense
SV2CENSG00000122012ENST00000502798p.E87Dc.261G>TSubstitution - Missense
WDR87ENSG00000171804ENST00000303868p.N787fs*48c.2358_2359insCInsertion - Frameshift
BCHEENSG00000114200ENST00000264381p.E450fs*15c.1348delGDeletion - Frameshift
PCDHB8ENSG00000120322ENST00000239444p.A26Vc.77C>TSubstitution - Missense
PCDHGA2ENSG00000081853ENST00000394576p.R202Cc.604C>TSubstitution - Missense
ENSG00000167674ENST00000301284p.T199Tc.597C>TSubstitution - coding silent
ENST00000373135_v70p.P26Pc.78T>GSubstitution - coding silent
FAM135BENSG00000147724ENST00000395297p.C416Rc.1246T>CSubstitution - Missense
SLC38A9ENSG00000177058ENST00000396865p.S421Fc.1262C>TSubstitution - Missense
VWA5B1ENSG00000158816ENST00000375083p.T147Pc.439A>CSubstitution - Missense
ZNFX1ENSG00000124201ENST00000455070p.R549Qc.1646G>ASubstitution - Missense
CDH4ENSG00000179242ENST00000360469p.T332Sc.994A>TSubstitution - Missense
HIST1H4FENSG00000198327ENST00000377745p.G42Sc.124G>ASubstitution - Missense
SHCBP1ENSG00000171241ENST00000303383p.C254Rc.760T>CSubstitution - Missense
EMC3ENSG00000125037ENST00000429759p.Q91*c.271C>TSubstitution - Nonsense
TRMT2AENSG00000099899ENST00000404751p.?c.1433-1G>AUnknown
FGFR1ENSG00000077782ENST00000447712p.Y613Yc.1839T>CSubstitution - coding silent
KLHL8ENSG00000145332ENST00000273963p.R530Qc.1589G>ASubstitution - Missense
ENST00000405167p.G2412Sc.7234G>ASubstitution - Missense
DEPDC5ENSG00000100150ENST00000535622p.T876Tc.2628C>TSubstitution - coding silent
CNOT1ENSG00000125107ENST00000317147p.D1427Hc.4279G>CSubstitution - Missense
SLC16A13ENSG00000174327ENST00000308027p.R218Cc.652C>TSubstitution - Missense
TTLL12ENSG00000100304ENST00000216129p.I471Mc.1413C>GSubstitution - Missense
SP8ENSG00000164651ENST00000418710p.R370Lc.1109G>TSubstitution - Missense
SP8ENSG00000164651ENST00000361443p.R352Lc.1055G>TSubstitution - Missense
DNAH8ENSG00000124721ENST00000359357p.Q1694fs*20c.5078_5079delCADeletion - Frameshift
CDH7ENSG00000081138ENST00000323011p.P167Pc.501C>TSubstitution - coding silent
SLC9B1P1ENSG00000183704ENST00000331172p.K96Nc.288A>CSubstitution - Missense
ENST00000335106p.L518Lc.1554G>ASubstitution - coding silent
ENST00000359961p.D133Ec.399T>ASubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.V781Vc.2343G>ASubstitution - coding silent
YAE1D1ENSG00000241127ENST00000432096p.V72Vc.216C>TSubstitution - coding silent
MCF2ENSG00000101977ENST00000370578p.D187Dc.561C>TSubstitution - coding silent
PTPRKENSG00000152894ENST00000368227p.K643Ec.1927A>GSubstitution - Missense
HRGENSG00000113905ENST00000232003p.L35Lc.105A>TSubstitution - coding silent
SLC12A4ENSG00000124067ENST00000541864p.R160Lc.479G>TSubstitution - Missense
GNAI2ENSG00000114353ENST00000266027p.V103Mc.307G>ASubstitution - Missense
CHRNA7ENSG00000175344ENST00000454250p.P377Pc.1131C>TSubstitution - coding silent
TSC22D1ENSG00000102804ENST00000261489p.Y68Fc.203A>TSubstitution - Missense
KIAA0226LENSG00000102445ENST00000429979p.S639Sc.1917C>TSubstitution - coding silent
LBRENSG00000143815ENST00000272163p.V322Mc.964G>ASubstitution - Missense
KLRC2ENSG00000205809ENST00000381902p.W138Rc.412T>CSubstitution - Missense
ANO2ENSG00000047617ENST00000546188p.?c.523-1G>TUnknown
SU_OBSCN.1p.L6411Lc.19231C>TSubstitution - coding silent
GPR137ENSG00000173264ENST00000313074p.?c.783+9A>TUnknown
NCAPD3ENSG00000151503ENST00000534548p.L1220Lc.3660G>ASubstitution - coding silent
OCA2ENSG00000104044ENST00000354638p.?c.2245-6C>AUnknown
MYOCENSG00000034971ENST00000037502p.R158Qc.473G>ASubstitution - Missense
CRAMP1LENSG00000007545ENST00000397412p.S1209Fc.3626C>TSubstitution - Missense
DYNC2H1ENSG00000187240ENST00000398093p.S1075Ic.3224G>TSubstitution - Missense
CASP5ENSG00000137757ENST00000393141p.I432Vc.1294A>GSubstitution - Missense
DUOX1ENSG00000137857ENST00000389037p.?c.4248+6T>AUnknown
LCE3DENSG00000163202ENST00000368787p.H56Qc.168C>GSubstitution - Missense
SIRPAENSG00000198053ENST00000356025p.G188Vc.563G>TSubstitution - Missense
NFIAENSG00000162599ENST00000371189p.?c.1390-8C>GUnknown
CLVS1ENSG00000177182ENST00000325897p.S327Sc.981T>GSubstitution - coding silent
TRPM3ENSG00000083067ENST00000377110p.E123Ac.368A>CSubstitution - Missense
TRPM3ENSG00000083067ENST00000423814p.E125Ac.374A>CSubstitution - Missense
KBTBD8ENSG00000163376ENST00000295568p.L501Lc.1501C>TSubstitution - coding silent
ANKRD36ENSG00000135976ENST00000461153p.?c.2042-4T>AUnknown
ZNF878ENSG00000257446ENST00000547628p.R355Qc.1064G>ASubstitution - Missense
BPTFENSG00000171634ENST00000335221p.N1313Nc.3939T>CSubstitution - coding silent
ENST00000355529p.E78Kc.232G>ASubstitution - Missense
DNAH2ENSG00000183914ENST00000389173p.?c.10236+3G>TUnknown
ANGPT4ENSG00000101280ENST00000381922p.H398Pc.1193A>CSubstitution - Missense
ENST00000407030p.R45*c.133A>TSubstitution - Nonsense
ZNF213ENSG00000085644ENST00000574902p.R224Wc.670C>TSubstitution - Missense
ANKRD36ENSG00000135976ENST00000461153p.P972Lc.2915C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.K5060Ic.15179A>TSubstitution - Missense
ENST00000356127p.R26019Sc.78057G>CSubstitution - Missense
PDIA6ENSG00000143870ENST00000272227p.P238Lc.713C>TSubstitution - Missense
NDPENSG00000124479ENST00000378062p.V45Vc.135G>ASubstitution - coding silent
SCAF8ENSG00000213079ENST00000367178p.Q1231Qc.3693G>ASubstitution - coding silent
FAT4ENSG00000196159ENST00000394329p.I1440Vc.4318A>GSubstitution - Missense
AHNAKENSG00000124942ENST00000378024p.G3230Dc.9689G>ASubstitution - Missense
VEZTENSG00000028203ENST00000436874p.?c.259-7T>AUnknown
AHNAK2ENSG00000185567ENST00000333244p.K2211Kc.6633G>ASubstitution - coding silent
RNASE1ENSG00000129538ENST00000397967p.T92Nc.275C>ASubstitution - Missense
SLC29A3ENSG00000198246ENST00000373189p.L389Fc.1165C>TSubstitution - Missense
EPHA2ENSG00000142627ENST00000358432p.D596Ec.1788C>GSubstitution - Missense
ADAMTS8ENSG00000134917ENST00000257359p.C507Yc.1520G>ASubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.P1466Pc.4398G>TSubstitution - coding silent
MUC19ENSG00000205592ENST00000425730p.?c.1332-1G>AUnknown
MSANTD4ENSG00000170903ENST00000301919p.N278Kc.834T>GSubstitution - Missense
VASH1ENSG00000071246ENST00000167106p.K145*c.433A>TSubstitution - Nonsense
BATFENSG00000156127ENST00000286639p.?c.168+2_168+3insTUnknown
CEP350ENSG00000135837ENST00000367607p.L664Fc.1992G>TSubstitution - Missense
RALGPS2ENSG00000116191ENST00000367635p.A142Vc.425C>TSubstitution - Missense
VWA9ENSG00000138614ENST00000395644p.E138Kc.412G>ASubstitution - Missense
VRK1ENSG00000100749ENST00000216639p.N234Sc.701A>GSubstitution - Missense
KLHL14ENSG00000197705ENST00000359358p.Y626Hc.1876T>CSubstitution - Missense
TMEM130ENSG00000166448ENST00000339375p.T77Nc.230C>ASubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.G58Sc.172G>ASubstitution - Missense
TRPM2ENSG00000142185ENST00000397928p.S228Sc.684C>TSubstitution - coding silent
MBD2ENSG00000134046ENST00000256429p.L197Lc.591G>ASubstitution - coding silent
PLOD2ENSG00000152952ENST00000282903p.R495*c.1483C>TSubstitution - Nonsense
BCL6BENSG00000161940ENST00000293805p.E85Kc.253G>ASubstitution - Missense
MYO15BENSG00000266714ENST00000584762p.D59Dc.177C>TSubstitution - coding silent
LFNGENSG00000106003ENST00000402506p.P176Pc.528T>CSubstitution - coding silent
ENPEPENSG00000138792ENST00000265162p.S180Sc.540C>TSubstitution - coding silent
SPHK2ENSG00000063176ENST00000245222p.P630Pc.1890G>TSubstitution - coding silent
RAF1ENSG00000132155ENST00000251849p.T543Tc.1629G>CSubstitution - coding silent
CEP57L1ENSG00000183137ENST00000359793p.K65Ec.193A>GSubstitution - Missense
ZFAND3ENSG00000156639ENST00000287218p.R116Kc.347G>ASubstitution - Missense
ENST00000359737p.L59Hc.176T>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.F369Vc.1105T>GSubstitution - Missense
GGA1ENSG00000100083ENST00000343632p.M138Ic.414G>CSubstitution - Missense
FAT2ENSG00000086570ENST00000261800p.G2361Dc.7082G>ASubstitution - Missense
NOBOXENSG00000106410ENST00000467773p.I582Ic.1746C>ASubstitution - coding silent
RINT1ENSG00000135249ENST00000257700p.P261Pc.783G>ASubstitution - coding silent
MCCD1ENSG00000204511ENST00000376191p.A70Tc.208G>ASubstitution - Missense
IL6STENSG00000134352ENST00000381298p.P224Lc.671C>TSubstitution - Missense
MAD2L1BPENSG00000124688ENST00000372171p.T255Mc.764C>TSubstitution - Missense
ERN2ENSG00000134398ENST00000256797p.T435Ic.1304C>TSubstitution - Missense
CCDC94ENSG00000105248ENST00000262962p.T285fs*33c.852_853insCInsertion - Frameshift
SULT6B1ENSG00000138068ENST00000535679p.Q216*c.646C>TSubstitution - Nonsense
NBPF3ENSG00000142794ENST00000342104p.V7Vc.21C>GSubstitution - coding silent
TRERF1ENSG00000124496ENST00000372917p.?c.2088-1G>CUnknown
GPC5ENSG00000179399ENST00000377067p.G368Vc.1103G>TSubstitution - Missense
TJAP1ENSG00000137221ENST00000372444p.S174Sc.522C>TSubstitution - coding silent
PNLIPRP3ENSG00000203837ENST00000369230p.G378Gc.1134C>ASubstitution - coding silent
RAB15ENSG00000139998ENST00000267512p.G173Sc.517G>ASubstitution - Missense
THSD7BENSG00000144229ENST00000272643p.H709Hc.2127C>TSubstitution - coding silent
VWFENSG00000110799ENST00000261405p.N2725Nc.8175C>TSubstitution - coding silent
NBPF3ENSG00000142794ENST00000318249p.V7Vc.21C>GSubstitution - coding silent
RETENSG00000165731ENST00000340058p.C634Wc.1902C>GSubstitution - Missense
KIF5BENSG00000170759ENST00000302418p.A479Ac.1437A>GSubstitution - coding silent
GRIA4ENSG00000152578ENST00000282499p.D791Nc.2371G>ASubstitution - Missense
SCN8AENSG00000196876ENST00000354534p.P285Pc.855C>TSubstitution - coding silent
MUC5BENSG00000117983ENST00000529681p.T3833Tc.11499C>TSubstitution - coding silent
MYH6ENSG00000197616ENST00000356287p.?c.2292+10G>CUnknown
GPR137ENSG00000173264ENST00000438980p.?c.783+9A>TUnknown
NEMFENSG00000165525ENST00000298310p.?c.883-5A>TUnknown
FLGENSG00000143631ENST00000368799p.Q1790Ec.5368C>GSubstitution - Missense
CYP2J2ENSG00000134716ENST00000371204p.E202Kc.604G>ASubstitution - Missense
SPEF2ENSG00000152582ENST00000303129p.V524Vc.1572G>CSubstitution - coding silent
VWA9ENSG00000138614ENST00000420799p.E81Kc.241G>ASubstitution - Missense
FAM107AENSG00000168309ENST00000360997p.P26Sc.76C>TSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.E258*c.772G>TSubstitution - Nonsense
TNFRSF13BENSG00000240505ENST00000437538p.D145Nc.433G>ASubstitution - Missense
FGAENSG00000171560ENST00000403106p.F237Lc.711T>GSubstitution - Missense
SPHK2ENSG00000063176ENST00000340932p.P592Pc.1776G>TSubstitution - coding silent
ENST00000369212_v70p.A324Vc.971C>TSubstitution - Missense
NM_006293p.R651Wc.1951C>TSubstitution - Missense
MFN1ENSG00000171109ENST00000263969p.F337Fc.1011C>TSubstitution - coding silent
IFIT3ENSG00000119917ENST00000371811p.A155Vc.464C>TSubstitution - Missense
BTRCENSG00000166167ENST00000370187p.L95Sc.284T>CSubstitution - Missense
C14orf119ENSG00000179933ENST00000319074p.V126Mc.376G>ASubstitution - Missense
SU_CRIKp.D1002Dc.3006C>TSubstitution - coding silent
VPS13DENSG00000048707ENST00000358136p.N3899Hc.11695A>CSubstitution - Missense
FLGENSG00000143631ENST00000368799p.G2799Ec.8396G>ASubstitution - Missense
SIDT2ENSG00000149577ENST00000324225p.V693Ic.2077G>ASubstitution - Missense
NM_175739.2p.V93Ic.277G>ASubstitution - Missense
SPTBENSG00000070182ENST00000542895p.E1819*c.5455G>TSubstitution - Nonsense
ENST00000339192p.R528Rc.1584C>TSubstitution - coding silent
GP1BAENSG00000185245ENST00000329125p.L190Lc.570C>TSubstitution - coding silent
C1orf63ENSG00000117616ENST00000243189p.I259Vc.775A>GSubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.S2889Sc.8667C>TSubstitution - coding silent
NUSAP1ENSG00000137804ENST00000559596p.S352Fc.1055C>TSubstitution - Missense
ADORA2BENSG00000170425ENST00000304222p.C311Gc.931T>GSubstitution - Missense
NM_212559.1p.T444Sc.1330A>TSubstitution - Missense
TRIM55ENSG00000147573ENST00000276573p.P373Qc.1118C>ASubstitution - Missense
MBOAT4ENSG00000177669ENST00000320542p.L293Lc.879G>ASubstitution - coding silent
DOCK8ENSG00000107099ENST00000453981p.A1662Sc.4984G>TSubstitution - Missense
ZNFX1ENSG00000124201ENST00000396105p.R745Qc.2234G>ASubstitution - Missense
FAM65CENSG00000042062ENST00000327979p.P347Pc.1041G>ASubstitution - coding silent
ENST00000312412_v68p.?c.419-4A>GUnknown
RPTORENSG00000141564ENST00000306801p.F626Fc.1878C>TSubstitution - coding silent
ZFHX4ENSG00000091656ENST00000521891p.V1343Vc.4029A>GSubstitution - coding silent
SAMD9LENSG00000177409ENST00000318238p.K270Kc.810G>ASubstitution - coding silent
C2orf53ENSG00000186143ENST00000335524p.T184Sc.551C>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.L20166Qc.60497T>ASubstitution - Missense
ACVR2BENSG00000114739ENST00000352511p.R468Hc.1403G>ASubstitution - Missense
GRM1ENSG00000152822ENST00000282753p.K66Nc.198G>TSubstitution - Missense
DNAH6ENSG00000115423ENST00000237449p.S3537Lc.10610C>TSubstitution - Missense
MARK4ENSG00000007047ENST00000262891p.D282Nc.844G>ASubstitution - Missense
LRRFIP1ENSG00000124831ENST00000244815p.K137Qc.409A>CSubstitution - Missense
DPP10ENSG00000175497ENST00000310323p.S337Fc.1010C>TSubstitution - Missense
FKBP5ENSG00000096060ENST00000536438p.Q290Pc.869A>CSubstitution - Missense
COMPENSG00000105664ENST00000222271p.T660Rc.1979C>GSubstitution - Missense
LAS1LENSG00000001497ENST00000374811p.?c.432+5G>AUnknown
SIX2ENSG00000170577ENST00000303077p.R180Gc.538C>GSubstitution - Missense
ZNF383ENSG00000188283ENST00000352998p.S197Fc.590C>TSubstitution - Missense
SIENSG00000090402ENST00000264382p.E508Kc.1522G>ASubstitution - Missense
PPP2R2BENSG00000156475ENST00000394409p.T280Mc.839C>TSubstitution - Missense
ENST00000309900p.L281Lc.843G>ASubstitution - coding silent
TAF7ENSG00000178913ENST00000313368p.S4Sc.12C>TSubstitution - coding silent
SDK1ENSG00000146555ENST00000404826p.S440Sc.1320C>TSubstitution - coding silent
PARP8ENSG00000151883ENST00000281631p.G140Gc.420G>TSubstitution - coding silent
PKHD1ENSG00000170927ENST00000340994p.D3120Ec.9360C>ASubstitution - Missense
NELL2ENSG00000184613ENST00000395487p.G503Ec.1508G>ASubstitution - Missense
ENTPD6ENSG00000197586ENST00000433259p.V226Ic.676G>ASubstitution - Missense
INPP4BENSG00000109452ENST00000513000p.?c.255+9C>TUnknown
HRNRENSG00000197915ENST00000368801p.G193Cc.577G>TSubstitution - Missense
EFNB2ENSG00000125266ENST00000245323p.D87Yc.259G>TSubstitution - Missense
NM_014422.1p.R414Cc.1240C>TSubstitution - Missense
ARHGAP12ENSG00000165322ENST00000344936p.T626Nc.1877C>ASubstitution - Missense
ENST00000357329p.R478Ic.1433G>TSubstitution - Missense
BROXENSG00000162819ENST00000340934p.?c.475-3C>TUnknown
ITIH2ENSG00000151655ENST00000358415p.S668Pc.2002T>CSubstitution - Missense
DNTTENSG00000107447ENST00000371174p.?c.1007+8A>TUnknown
KIF21AENSG00000139116ENST00000361961p.R1354Cc.4060C>TSubstitution - Missense
PPP2R2BENSG00000156475ENST00000336640p.T225Mc.674C>TSubstitution - Missense
MAP9ENSG00000164114ENST00000311277p.K496fs*3c.1482_1492del11Deletion - Frameshift
FAM149AENSG00000109794ENST00000503432p.F474Lc.1422C>GSubstitution - Missense
MTO1ENSG00000135297ENST00000370300p.I472Tc.1415T>CSubstitution - Missense
SLC35G5ENSG00000177710ENST00000382435p.P175Ac.523C>GSubstitution - Missense
PCDHA9ENSG00000204961ENST00000532602p.S173Sc.519C>TSubstitution - coding silent
N4BP3ENSG00000145911ENST00000274605p.E256Kc.766G>ASubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.P186Sc.556C>TSubstitution - Missense
EIF4G1ENSG00000114867ENST00000319274p.G1043Rc.3127G>ASubstitution - Missense
PCDH11XENSG00000102290ENST00000298274p.L57*c.170T>ASubstitution - Nonsense
ENST00000378024_v70p.G3230Dc.9689G>ASubstitution - Missense
C1orf101ENSG00000179397ENST00000366534p.V595Fc.1783G>TSubstitution - Missense
NM_014903.3p.S1534Sc.4602G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.E258*c.772G>TSubstitution - Nonsense
SIAEENSG00000110013ENST00000263593p.S79Fc.236C>TSubstitution - Missense
C10orf12ENSG00000155640ENST00000286067p.V979Ic.2935G>ASubstitution - Missense
ENST00000368148p.Y292Yc.876T>CSubstitution - coding silent
CNTN1ENSG00000018236ENST00000551295p.?c.1805-3C>TUnknown
XM_048898.8p.G1238Wc.3712G>TSubstitution - Missense
TMEM132AENSG00000006118ENST00000005286p.P40Pc.120C>TSubstitution - coding silent
SERF2ENSG00000140264ENST00000409960p.?c.8-6C>TUnknown
ILDR2ENSG00000143195ENST00000271417p.D129Yc.385G>TSubstitution - Missense
ESRRAENSG00000173153ENST00000405666p.H411Pc.1232A>CSubstitution - Missense
MCUENSG00000156026ENST00000373053p.K309fs*6c.922delADeletion - Frameshift
PGFENSG00000119630ENST00000405431p.M165fs*5c.492_498delGATGGAGDeletion - Frameshift
CIITAENSG00000179583ENST00000324288p.D930Vc.2789A>TSubstitution - Missense
C1orf186ENSG00000196533ENST00000331555p.Y155delYc.464_466delATTDeletion - In frame
RFX7ENSG00000181827ENST00000423270p.P565Pc.1695T>ASubstitution - coding silent
TTC12ENSG00000149292ENST00000529221p.V516Ic.1546G>ASubstitution - Missense
IER5ENSG00000162783ENST00000367577p.C309Cc.927C>TSubstitution - coding silent
TTC6ENSG00000139865ENST00000553443p.R1092*c.3274C>TSubstitution - Nonsense
UNC13CENSG00000137766ENST00000260323p.H651Nc.1951C>ASubstitution - Missense
ADAMTS18ENSG00000140873ENST00000282849p.I925Ic.2775C>TSubstitution - coding silent
OR2T1ENSG00000175143ENST00000366474p.L204Fc.612G>TSubstitution - Missense
HSP90AA1ENSG00000080824ENST00000334701p.?c.1852+3_1854del243Unknown
UPF3BENSG00000125351ENST00000276201p.?c.156+1G>AUnknown
RAD54BENSG00000197275ENST00000336148p.S667Yc.2000C>ASubstitution - Missense
ARHGAP39ENSG00000147799ENST00000377307p.I829Vc.2485A>GSubstitution - Missense
WDR19ENSG00000157796ENST00000399820p.L306Vc.916T>GSubstitution - Missense
IAH1ENSG00000134330ENST00000497473p.V159delVc.471_473delTGTDeletion - In frame
SMARCA4ENSG00000127616ENST00000429416p.N1454Hc.4360A>CSubstitution - Missense
SMCHD1ENSG00000101596ENST00000261598p.M1087Tc.3260T>CSubstitution - Missense
CACNA1AENSG00000141837ENST00000360228p.M129Ic.387G>ASubstitution - Missense
SLX4ENSG00000188827ENST00000294008p.S960Ic.2879G>TSubstitution - Missense
GP6ENSG00000088053ENST00000310373p.P24Lc.71C>TSubstitution - Missense
NM_152632.1p.T89Tc.267C>TSubstitution - coding silent
LFNGENSG00000106003ENST00000402045p.P118Pc.354T>CSubstitution - coding silent
AMACRENSG00000242110ENST00000335606p.G13Ac.38G>CSubstitution - Missense
CCT4ENSG00000115484ENST00000394440p.N366Sc.1097A>GSubstitution - Missense
FAM19A5ENSG00000219438ENST00000358295p.P76Pc.228C>TSubstitution - coding silent
DPP10ENSG00000175497ENST00000410059p.S344Fc.1031C>TSubstitution - Missense
EPHB1ENSG00000154928ENST00000398015p.T911Mc.2732C>TSubstitution - Missense
ZNF629ENSG00000102870ENST00000262525p.G602Sc.1804G>ASubstitution - Missense
WHSC1ENSG00000109685ENST00000503128p.K361Qc.1081A>CSubstitution - Missense
TAB1ENSG00000100324ENST00000216160p.V331Vc.993G>ASubstitution - coding silent
PCDH11XENSG00000102290ENST00000373094p.L57*c.170T>ASubstitution - Nonsense
ENST00000341011p.C112*c.336C>ASubstitution - Nonsense
TRIM4ENSG00000146833ENST00000355947p.T273fs*7c.816_819delGACCDeletion - Frameshift
PCDHA9ENSG00000204961ENST00000378122p.S173Sc.519C>TSubstitution - coding silent
GALNT10ENSG00000164574ENST00000297107p.Q85*c.253C>TSubstitution - Nonsense
NEBENSG00000183091ENST00000409198p.R5042Cc.15124C>TSubstitution - Missense
FAM183BENSG00000164556ENST00000409072p.E88Ec.264A>GSubstitution - coding silent
HECW1ENSG00000002746ENST00000395891p.E729Qc.2185G>CSubstitution - Missense
SH3GLB2ENSG00000148341ENST00000372559p.K117Ec.349A>GSubstitution - Missense
ASGR2ENSG00000161944ENST00000380952p.P154Pc.462C>TSubstitution - coding silent
UTRNENSG00000152818ENST00000367545p.S1909Cc.5726C>GSubstitution - Missense
NHSL1ENSG00000135540ENST00000343505p.D1342Ec.4026T>GSubstitution - Missense
CDH3ENSG00000062038ENST00000429102p.T531Tc.1593G>ASubstitution - coding silent
KCNK5ENSG00000164626ENST00000359534p.S399Sc.1197C>TSubstitution - coding silent
POM121ENSG00000196313ENST00000395270p.S676Gc.2026A>GSubstitution - Missense
EPHB1ENSG00000154928ENST00000398015p.T911Mc.2732C>TSubstitution - Missense
MARK4ENSG00000007047ENST00000262891p.A389Ac.1167G>ASubstitution - coding silent
FRG1ENSG00000109536ENST00000226798p.T39Tc.117C>GSubstitution - coding silent
ENST00000448712p.G574Gc.1722G>TSubstitution - coding silent
DNAJC19ENSG00000205981ENST00000382564p.I66Mc.198A>GSubstitution - Missense
IRGCENSG00000124449ENST00000244314p.P98Pc.294C>TSubstitution - coding silent
CDHR2ENSG00000074276ENST00000261944p.L941Lc.2823C>TSubstitution - coding silent
DCAF15ENSG00000132017ENST00000254337p.R509Pc.1526G>CSubstitution - Missense
TTC12ENSG00000149292ENST00000314756p.V516Ic.1546G>ASubstitution - Missense
SPTBN4ENSG00000160460ENST00000392025p.E675Kc.2023G>ASubstitution - Missense
ENST00000356853_v70p.Q147Qc.441G>ASubstitution - coding silent
BRICD5ENSG00000182685ENST00000562360p.?c.52-8A>CUnknown
ENGENSG00000106991ENST00000373203p.V125Ac.374T>CSubstitution - Missense
CACNA1IENSG00000100346ENST00000400164p.C1617Cc.4851C>TSubstitution - coding silent
TICRRENSG00000140534ENST00000268138p.R726Cc.2176C>TSubstitution - Missense
CDH11ENSG00000140937ENST00000268603p.D794Dc.2382C>TSubstitution - coding silent
HCAR3ENSG00000255398ENST00000528880p.L6Lc.18G>ASubstitution - coding silent
WNK2ENSG00000165238ENST00000395477p.?c.5924-5C>TUnknown
C16orf70ENSG00000125149ENST00000219139p.N399Hc.1195A>CSubstitution - Missense
SLITRK5ENSG00000165300ENST00000325089p.Q952fs*5c.2853_2854insAInsertion - Frameshift
PDE1CENSG00000154678ENST00000396193p.G334Rc.1000G>ASubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.D1721Nc.5161G>ASubstitution - Missense
NACAENSG00000196531ENST00000454682p.I1716Vc.5146A>GSubstitution - Missense
ENST00000368148p.A2097Ec.6290C>ASubstitution - Missense
ENST00000268134p.E1380Ec.4140G>ASubstitution - coding silent
CTSHENSG00000103811ENST00000220166p.?c.124-2A>TUnknown
NADKENSG00000008130ENST00000344463p.P197Pc.591C>TSubstitution - coding silent
KRTAP5-1ENSG00000205869ENST00000382171p.P211Pc.633C>TSubstitution - coding silent
PLEKHA7ENSG00000166689ENST00000355661p.G151Gc.453G>ASubstitution - coding silent
XM_048898.8p.S851Sc.2553G>ASubstitution - coding silent
RAB18ENSG00000099246ENST00000423465p.F93Vc.277T>GSubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.P877Rc.2630C>GSubstitution - Missense
CYFIP1ENSG00000068793ENST00000313077p.S180Ic.539G>TSubstitution - Missense
ENST00000436041_v68p.A85Vc.254C>TSubstitution - Missense
SLC44A3ENSG00000143036ENST00000467909p.P374Pc.1122C>GSubstitution - coding silent
VPS13CENSG00000129003ENST00000395896p.S3253Gc.9757A>GSubstitution - Missense
OVCH1ENSG00000187950ENST00000318184p.P59Pc.177A>GSubstitution - coding silent
HOXB2ENSG00000173917ENST00000330070p.A130Tc.388G>ASubstitution - Missense
MYO15AENSG00000091536ENST00000205890p.R182Rc.546G>TSubstitution - coding silent
NOS2ENSG00000007171ENST00000313735p.?c.722+4G>TUnknown
LMCD1ENSG00000071282ENST00000157600p.I46Tc.137T>CSubstitution - Missense
ITGAMENSG00000169896ENST00000287497p.K247Ec.739A>GSubstitution - Missense
CECR2ENSG00000099954ENST00000262608p.A751Dc.2252C>ASubstitution - Missense
REM1ENSG00000088320ENST00000201979p.L199*c.596T>ASubstitution - Nonsense
PCNTENSG00000160299ENST00000359568p.M755Rc.2264T>GSubstitution - Missense
RAP1GDS1ENSG00000138698ENST00000453712p.D88Gc.263A>GSubstitution - Missense
RNASEKENSG00000219200ENST00000402093p.C14Cc.42C>TSubstitution - coding silent
SBK2ENSG00000187550ENST00000344158p.R40Sc.118C>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.L1873Vc.5617C>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.G2412Sc.7234G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.L3329Lc.9987T>GSubstitution - coding silent
SLC12A4ENSG00000124067ENST00000316341p.R191Lc.572G>TSubstitution - Missense
DPEP3ENSG00000141096ENST00000268793p.S87Rc.261C>ASubstitution - Missense
KIAA1644ENSG00000138944ENST00000381176p.A13Ac.39C>TSubstitution - coding silent
SAP130ENSG00000136715ENST00000357702p.V877Vc.2631G>ASubstitution - coding silent
WDR41ENSG00000164253ENST00000296679p.Q447*c.1339C>TSubstitution - Nonsense
TRIM42ENSG00000155890ENST00000286349p.T563Nc.1688C>ASubstitution - Missense
KCNH4ENSG00000089558ENST00000264661p.S483Lc.1448C>TSubstitution - Missense
ERC2ENSG00000187672ENST00000288221p.R484Gc.1450A>GSubstitution - Missense
SLC17A2ENSG00000112337ENST00000360488p.S27Sc.81A>CSubstitution - coding silent
FRYLENSG00000075539ENST00000503238p.D1331Nc.3991G>ASubstitution - Missense
SLC5A3ENSG00000198743ENST00000381151p.G176Rc.526G>ASubstitution - Missense
LCA5LENSG00000157578ENST00000358268p.A546Ac.1638C>TSubstitution - coding silent
UMODL1ENSG00000177398ENST00000408989p.Q1131fs*85c.3392_3393insTCCAInsertion - Frameshift
SMCHD1ENSG00000101596ENST00000320876p.M1639Tc.4916T>CSubstitution - Missense
PCNTENSG00000160299ENST00000359568p.A1795Ac.5385G>ASubstitution - coding silent
ENST00000405167p.T1854Ac.5560A>GSubstitution - Missense
ACSF3ENSG00000176715ENST00000317447p.?c.1127-5T>CUnknown
APCENSG00000134982ENST00000457016p.Q542Qc.1626G>ASubstitution - coding silent
CD300LFENSG00000186074ENST00000326165p.Q21Hc.63A>CSubstitution - Missense
SAP130ENSG00000136715ENST00000259235p.V842Vc.2526G>ASubstitution - coding silent
CBY3ENSG00000204659ENST00000376974p.R196Cc.586C>TSubstitution - Missense
DNAH8ENSG00000124721ENST00000359357p.K2281fs*11c.6841delADeletion - Frameshift
AAMPENSG00000127837ENST00000248450p.?c.880-8G>CUnknown
FAM149AENSG00000109794ENST00000503432p.A296Tc.886G>ASubstitution - Missense
SORBS2ENSG00000154556ENST00000284776p.N327Kc.981C>ASubstitution - Missense
GRIK2ENSG00000164418ENST00000421544p.P545Pc.1635C>GSubstitution - coding silent
L3MBTL4ENSG00000154655ENST00000400105p.N181Dc.541A>GSubstitution - Missense
SGSM1ENSG00000167037ENST00000400359p.D489Ec.1467T>GSubstitution - Missense
KCND2ENSG00000184408ENST00000331113p.N97Ic.290A>TSubstitution - Missense
SCAND3ENSG00000232040ENST00000452236p.L820Lc.2458T>CSubstitution - coding silent
NSD1ENSG00000165671ENST00000439151p.?c.4966+6G>AUnknown
PKHD1ENSG00000170927ENST00000371117p.D3120Ec.9360C>ASubstitution - Missense
PKP4ENSG00000144283ENST00000389759p.E434Kc.1300G>ASubstitution - Missense
SYT15ENSG00000204176ENST00000374323p.L301Fc.901C>TSubstitution - Missense
RASSF4ENSG00000107551ENST00000334940p.L323Lc.969G>ASubstitution - coding silent
TACC1ENSG00000147526ENST00000443286p.E713fs*21c.2136_2137insAInsertion - Frameshift
VPS39ENSG00000166887ENST00000348544p.L589Vc.1765C>GSubstitution - Missense
WNK2ENSG00000165238ENST00000427277p.?c.4760-5C>TUnknown
ZNF611ENSG00000213020ENST00000319783p.K235Ec.703A>GSubstitution - Missense
KRBOX1ENSG00000240747ENST00000426937p.?c.37-7G>AUnknown
C1orf101ENSG00000179397ENST00000366533p.V595Fc.1783G>TSubstitution - Missense
FBRSL1ENSG00000112787ENST00000434748p.L627Lc.1881G>ASubstitution - coding silent
COL11A1ENSG00000060718ENST00000370096p.A1119Ac.3357C>TSubstitution - coding silent
CKAP4ENSG00000136026ENST00000378026p.P367Pc.1101G>ASubstitution - coding silent
POLR3BENSG00000013503ENST00000228347p.G1087Ac.3260G>CSubstitution - Missense
KCNMA1ENSG00000156113ENST00000406533p.D961Yc.2881G>TSubstitution - Missense
FRMD4AENSG00000151474ENST00000342409p.P20Lc.59C>TSubstitution - Missense
KRT5ENSG00000186081ENST00000252242p.E418Kc.1252G>ASubstitution - Missense
CHRNA7ENSG00000175344ENST00000306901p.P348Pc.1044C>TSubstitution - coding silent
MYBPC1ENSG00000196091ENST00000360610p.T921Ic.2762C>TSubstitution - Missense
CITENSG00000122966ENST00000261833p.D959Dc.2877C>TSubstitution - coding silent
VPS51ENSG00000149823ENST00000279281p.T559Tc.1677G>ASubstitution - coding silent
CHATENSG00000070748ENST00000337653p.L550Lc.1650G>ASubstitution - coding silent
TRIM49CENSG00000204449ENST00000448984p.G348Gc.1044G>TSubstitution - coding silent
OR11L1ENSG00000197591ENST00000355784p.V219Ic.655G>ASubstitution - Missense
SACSENSG00000151835ENST00000382298p.S1987Fc.5960C>TSubstitution - Missense
AAGABENSG00000103591ENST00000261880p.S220Cc.659C>GSubstitution - Missense
AGXT2ENSG00000113492ENST00000231420p.E426Kc.1276G>ASubstitution - Missense
ST18ENSG00000147488ENST00000276480p.A574Tc.1720G>ASubstitution - Missense
ERC2ENSG00000187672ENST00000288221p.R484Gc.1450A>GSubstitution - Missense
CALRENSG00000179218ENST00000316448p.N129Ic.386A>TSubstitution - Missense
SH3BGRENSG00000185437ENST00000333634p.M214Vc.640A>GSubstitution - Missense
PPP1R27ENSG00000182676ENST00000330261p.R53Wc.157C>TSubstitution - Missense
MYOM1ENSG00000101605ENST00000356443p.?c.1175-2A>TUnknown
C17orf97ENSG00000187624ENST00000360127p.P259Pc.777C>TSubstitution - coding silent
TBCDENSG00000141556ENST00000355528p.R1120Cc.3358C>TSubstitution - Missense
GRM7ENSG00000196277ENST00000389335p.V65Ec.194T>ASubstitution - Missense
FZD1ENSG00000157240ENST00000287934p.K399Kc.1197G>ASubstitution - coding silent
DZIP3ENSG00000198919ENST00000361582p.G1182Rc.3544G>CSubstitution - Missense
ANKRD36ENSG00000135976ENST00000420699p.P1142Lc.3425C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.?c.80003-3T>CUnknown
CACNA1SENSG00000081248ENST00000362061p.V646Ic.1936G>ASubstitution - Missense
SLC2A5ENSG00000142583ENST00000377424p.A446Tc.1336G>ASubstitution - Missense
GPATCH1ENSG00000076650ENST00000170564p.T112Sc.335C>GSubstitution - Missense
ZNF556ENSG00000172000ENST00000307635p.E72Gc.215A>GSubstitution - Missense
SHANK1ENSG00000161681ENST00000293441p.R1170Lc.3509G>TSubstitution - Missense
FTCDENSG00000160282ENST00000397748p.G191Sc.571G>ASubstitution - Missense
ENST00000325084p.M129Ic.387G>ASubstitution - Missense
FBXW9ENSG00000132004ENST00000393261p.D285Nc.853G>ASubstitution - Missense
RNF213ENSG00000173821ENST00000456466p.?c.1112+9G>AUnknown
ADAMTS9ENSG00000163638ENST00000498707p.R1416Wc.4246C>TSubstitution - Missense
IL17RDENSG00000144730ENST00000320057p.P491Pc.1473T>ASubstitution - coding silent
NISCHENSG00000010322ENST00000345716p.Q1424Qc.4272G>ASubstitution - coding silent
CXCL5ENSG00000163735ENST00000296027p.V11Vc.33C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.L20099Qc.60296T>ASubstitution - Missense
LYNX1ENSG00000180155ENST00000335822p.L15Fc.45A>CSubstitution - Missense
GPR124ENSG00000020181ENST00000412232p.D186Nc.556G>ASubstitution - Missense
THOC5ENSG00000100296ENST00000397871p.Q230Rc.689A>GSubstitution - Missense
ZNF174ENSG00000103343ENST00000268655p.Q270Qc.810A>GSubstitution - coding silent
DUS3LENSG00000141994ENST00000309061p.V338Ic.1012G>ASubstitution - Missense
FGFR1ENSG00000077782ENST00000447712p.Y613Yc.1839T>CSubstitution - coding silent
HIP1ENSG00000127946ENST00000336926p.T660Mc.1979C>TSubstitution - Missense
ELL2ENSG00000118985ENST00000237853p.S174*c.521C>GSubstitution - Nonsense
MAGEE1ENSG00000198934ENST00000361470p.R513Qc.1538G>ASubstitution - Missense
ZZEF1ENSG00000074755ENST00000381638p.C1052Cc.3156C>TSubstitution - coding silent
WHSC1ENSG00000109685ENST00000382891p.K361Qc.1081A>CSubstitution - Missense
FAM71BENSG00000170613ENST00000302938p.L171Pc.512T>CSubstitution - Missense
BCHEENSG00000114200ENST00000264381p.A190Sc.568G>TSubstitution - Missense
RAB36ENSG00000100228ENST00000263116p.?c.818-1delgUnknown
RAB36ENSG00000100228ENST00000263116p.T26Tc.78G>TSubstitution - coding silent
HECW1ENSG00000002746ENST00000395891p.E729Qc.2185G>CSubstitution - Missense
MCF2ENSG00000101977ENST00000519895p.D102Dc.306C>TSubstitution - coding silent
MTM1ENSG00000171100ENST00000370396p.?c.1353+6G>TUnknown
SLC26A3ENSG00000091138ENST00000340010p.I639Tc.1916T>CSubstitution - Missense
PKD1ENSG00000008710ENST00000262304p.S1025Yc.3074C>ASubstitution - Missense
EP400ENSG00000183495ENST00000333577p.P287Pc.861G>ASubstitution - coding silent
ANKRD33ENSG00000167612ENST00000340970p.A240Vc.719C>TSubstitution - Missense
MYO3BENSG00000071909ENST00000408978p.E915Kc.2743G>ASubstitution - Missense
ST6GALNAC6ENSG00000160408ENST00000373146p.R198Hc.593G>ASubstitution - Missense
SENP2ENSG00000163904ENST00000296257p.N421Nc.1263T>CSubstitution - coding silent
CD300LFENSG00000186074ENST00000361254p.Q24Hc.72A>CSubstitution - Missense
KIAA1731ENSG00000166004ENST00000411936p.K2518Ec.7552A>GSubstitution - Missense
FGAENSG00000171560ENST00000302053p.F237Lc.711T>GSubstitution - Missense
CLCNKBENSG00000184908ENST00000375679p.L387Lc.1161G>TSubstitution - coding silent
BMP10ENSG00000163217ENST00000295379p.H228Hc.684C>TSubstitution - coding silent
PON2ENSG00000105854ENST00000536183p.?c.840+5A>CUnknown
KCNMA1ENSG00000156113ENST00000404857p.D940Yc.2818G>TSubstitution - Missense
KCNMA1ENSG00000156113ENST00000404857p.I927Mc.2781C>GSubstitution - Missense
ENST00000319426p.R154Cc.460C>TSubstitution - Missense
IREB2ENSG00000136381ENST00000258886p.?c.700-4A>GUnknown
ANKRD33ENSG00000167612ENST00000301190p.R432*c.1294C>TSubstitution - Nonsense
SMC3ENSG00000108055ENST00000361804p.T630Tc.1890T>ASubstitution - coding silent
ECM1ENSG00000143369ENST00000369049p.P46Pc.138C>TSubstitution - coding silent
BIRC2ENSG00000110330ENST00000227758p.K546Kc.1638G>ASubstitution - coding silent
CHATENSG00000070748ENST00000395562p.L468Lc.1404G>ASubstitution - coding silent
UNC13CENSG00000137766ENST00000260323p.H651Nc.1951C>ASubstitution - Missense
STK33ENSG00000130413ENST00000447869p.S469fs*1c.1406delCDeletion - Frameshift
STK33ENSG00000130413ENST00000447869p.S469fs*1c.1406delCDeletion - Frameshift
C5orf42ENSG00000197603ENST00000274258p.A1161Vc.3482C>TSubstitution - Missense
STILENSG00000123473ENST00000337817p.N1056Sc.3167A>GSubstitution - Missense
RUFY4ENSG00000188282ENST00000344321p.R76Qc.227G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.P1755delPc.5263_5265delCCTDeletion - In frame
EFCAB7ENSG00000203965ENST00000371088p.G199Ac.596G>CSubstitution - Missense
NDUFA5ENSG00000128609ENST00000355749p.P108Sc.322C>TSubstitution - Missense
ENST00000411702p.?c.1259+9G>AUnknown
KIAA0226LENSG00000102445ENST00000378784p.S572Sc.1716C>TSubstitution - coding silent
EPHX1ENSG00000143819ENST00000366837p.R21Lc.62G>TSubstitution - Missense
RFX4ENSG00000111783ENST00000392842p.D88Hc.262G>CSubstitution - Missense
ATP2A2ENSG00000174437ENST00000539276p.P503Pc.1509A>GSubstitution - coding silent
NAV3ENSG00000067798ENST00000397909p.S1534Sc.4602G>ASubstitution - coding silent
PLEKHS1ENSG00000148735ENST00000369312p.Q196Kc.586C>ASubstitution - Missense
PCENSG00000173599ENST00000393955p.M1145Ic.3435G>TSubstitution - Missense
POTEMENSG00000187537ENST00000551509p.R66Hc.197G>ASubstitution - Missense
CNTFENSG00000242689ENST00000361987p.Q122Rc.365A>GSubstitution - Missense
MESDC2ENSG00000117899ENST00000261758p.E43Gc.128A>GSubstitution - Missense
YLPM1ENSG00000119596ENST00000238571p.N704Dc.2110A>GSubstitution - Missense
ENST00000417177p.?c.3516+7G>AUnknown
SYNMENSG00000182253ENST00000336292p.?c.1003+5G>AUnknown
RBM19ENSG00000122965ENST00000392561p.E929Ec.2787G>ASubstitution - coding silent
GNB5ENSG00000069966ENST00000261837p.P157Pc.471A>TSubstitution - coding silent
TRIM49CENSG00000204449ENST00000432771p.D370Ec.1110C>ASubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.L2030Lc.6090G>ASubstitution - coding silent
MAPK6ENSG00000069956ENST00000261845p.Q240Qc.720G>ASubstitution - coding silent
LGR5ENSG00000139292ENST00000266674p.R144Pc.431G>CSubstitution - Missense
GNB3ENSG00000111664ENST00000229264p.F234Fc.702C>TSubstitution - coding silent
DNM1LENSG00000087470ENST00000549701p.?c.1356+5C>TUnknown
MUC16ENSG00000181143ENST00000397910p.P1755delPc.5263_5265delCCTDeletion - In frame
EME1ENSG00000154920ENST00000338165p.I142Nc.425T>ASubstitution - Missense
ZNF91ENSG00000167232ENST00000300619p.G626Ec.1877G>ASubstitution - Missense
TP53ENSG00000141510ENST00000455263p.E258*c.772G>TSubstitution - Nonsense
RGAG1ENSG00000243978ENST00000465301p.G1051Rc.3151G>CSubstitution - Missense
SUPT6HENSG00000109111ENST00000314616p.G993Gc.2979A>TSubstitution - coding silent
MRS2ENSG00000124532ENST00000378386p.L417Lc.1249C>TSubstitution - coding silent
YIPF7ENSG00000177752ENST00000332990p.I232Ic.696C>TSubstitution - coding silent
NM_014815.2p.D693Yc.2077G>TSubstitution - Missense
FTCDENSG00000160282ENST00000397746p.G191Sc.571G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.R26021Sc.78063G>CSubstitution - Missense
ENST00000329373p.E295Ec.885G>ASubstitution - coding silent
FAM13AENSG00000138640ENST00000264344p.P598Pc.1794G>TSubstitution - coding silent
DDX18ENSG00000088205ENST00000263239p.F413Cc.1238T>GSubstitution - Missense
F8ENSG00000185010ENST00000360256p.V181Mc.541G>ASubstitution - Missense
ARR3ENSG00000120500ENST00000307959p.L196Lc.588C>TSubstitution - coding silent
SLC8A2ENSG00000118160ENST00000236877p.G465Gc.1395C>GSubstitution - coding silent
FAM109BENSG00000177096ENST00000321753p.E78Kc.232G>ASubstitution - Missense
FAM184AENSG00000111879ENST00000338891p.L271Lc.813T>ASubstitution - coding silent
ISYNA1ENSG00000105655ENST00000338128p.?c.975+8G>AUnknown
SGSM1ENSG00000167037ENST00000400359p.R669Qc.2006G>ASubstitution - Missense
SPTBN4ENSG00000160460ENST00000352632p.E1932Kc.5794G>ASubstitution - Missense
SENP2ENSG00000163904ENST00000296257p.N421Nc.1263T>CSubstitution - coding silent
FNIP2ENSG00000052795ENST00000264433p.M345Ic.1035G>ASubstitution - Missense
ACTBL2ENSG00000169067ENST00000423391p.W80*c.239G>ASubstitution - Nonsense
NCSTNENSG00000162736ENST00000437169p.W84Cc.252G>CSubstitution - Missense
LIMCH1ENSG00000064042ENST00000396595p.V512Vc.1536G>ASubstitution - coding silent
FBXW9ENSG00000132004ENST00000380339p.D285Nc.853G>ASubstitution - Missense
ZNF646ENSG00000167395ENST00000394979p.I524Ic.1572C>TSubstitution - coding silent
CYFIP2ENSG00000055163ENST00000435847p.R69Wc.205C>TSubstitution - Missense
DOCK9ENSG00000088387ENST00000376460p.R477Ic.1430G>TSubstitution - Missense
CHST1ENSG00000175264ENST00000308064p.S15Fc.44C>TSubstitution - Missense
PRSS38ENSG00000185888ENST00000366757p.I147Ic.441C>TSubstitution - coding silent
OBSCNENSG00000154358ENST00000284548p.P2014Qc.6041C>ASubstitution - Missense
EDDM3AENSG00000181562ENST00000326842p.V23Ic.67G>ASubstitution - Missense
PDE3AENSG00000172572ENST00000359062p.Y497Cc.1490A>GSubstitution - Missense
PTPRKENSG00000152894ENST00000368213p.K643Ec.1927A>GSubstitution - Missense
NADKENSG00000008130ENST00000342348p.P61Pc.183C>TSubstitution - coding silent
SFSWAPENSG00000061936ENST00000261674p.T476Ic.1427C>TSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.N2980Tc.8939A>CSubstitution - Missense
BCL9ENSG00000116128ENST00000234739p.M661Lc.1981A>TSubstitution - Missense
CRAMP1LENSG00000007545ENST00000436138p.S1206Fc.3617C>TSubstitution - Missense
OVCH1ENSG00000187950ENST00000318184p.I1083Ic.3249A>TSubstitution - coding silent
KCNMA1ENSG00000156113ENST00000406533p.I948Mc.2844C>GSubstitution - Missense
TENC1ENSG00000111077ENST00000314276p.R169fs*27c.505delCDeletion - Frameshift
ENST00000446175_v65p.H454fs*4c.1356delCDeletion - Frameshift
OBSCNENSG00000154358ENST00000570156p.P2198Qc.6593C>ASubstitution - Missense
DTLENSG00000143476ENST00000366991p.R477Qc.1430G>ASubstitution - Missense
POTEMENSG00000187537ENST00000551509p.R66Hc.197G>ASubstitution - Missense
OR52E4ENSG00000180974ENST00000316987p.F104Fc.312C>TSubstitution - coding silent
KCTD14ENSG00000151364ENST00000353172p.V207Ac.620T>CSubstitution - Missense
BTBD1ENSG00000064726ENST00000261721p.R276Wc.826C>TSubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.P1506Pc.4518G>TSubstitution - coding silent
PTPRKENSG00000152894ENST00000368226p.K643Ec.1927A>GSubstitution - Missense
HIVEP3ENSG00000127124ENST00000372583p.T803Nc.2408C>ASubstitution - Missense
TMEM132BENSG00000139364ENST00000299308p.R820Rc.2460C>TSubstitution - coding silent
CACNA1SENSG00000081248ENST00000362061p.I99Ic.297T>ASubstitution - coding silent
TRIM66ENSG00000166436ENST00000299550p.S36Nc.107G>ASubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.K2517Ec.7549A>GSubstitution - Missense
DHX37ENSG00000150990ENST00000308736p.L64Lc.190C>TSubstitution - coding silent
CHRNEENSG00000108556ENST00000293780p.C458Cc.1374C>TSubstitution - coding silent
GBP4ENSG00000162654ENST00000355754p.?c.40+2_40+3insTUnknown
ENSG00000117598ENST00000263177p.P65Pc.195C>GSubstitution - coding silent
USP36ENSG00000055483ENST00000312010p.D906Dc.2718C>TSubstitution - coding silent
UMODL1ENSG00000177398ENST00000400424p.Q931fs*85c.2792_2793insTCCAInsertion - Frameshift
ZNF878ENSG00000257446ENST00000547628p.R355Qc.1064G>ASubstitution - Missense
GPX4ENSG00000167468ENST00000354171p.R96Qc.287G>ASubstitution - Missense
ZNFX1ENSG00000124201ENST00000371754p.R745Qc.2234G>ASubstitution - Missense
MATN3ENSG00000132031ENST00000407540p.I251Tc.752T>CSubstitution - Missense
CECR2ENSG00000099954ENST00000400585p.A750Dc.2249C>ASubstitution - Missense
PRKRAENSG00000180228ENST00000325748p.I27Tc.80T>CSubstitution - Missense
CCDC120ENSG00000147144ENST00000376396p.R38Rc.112C>ASubstitution - coding silent
SU_EPHA6p.L248Rc.743T>GSubstitution - Missense
ENST00000405167p.L1985Vc.5953C>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.L2226Hc.6677T>ASubstitution - Missense
PRSS36ENSG00000178226ENST00000268281p.P840Pc.2520G>TSubstitution - coding silent
AMACRENSG00000242110ENST00000441713p.G13Ac.38G>CSubstitution - Missense
SEC22CENSG00000093183ENST00000264454p.W33*c.99G>ASubstitution - Nonsense
SEC22CENSG00000093183ENST00000273156p.W33*c.99G>ASubstitution - Nonsense
SHANK3ENSG00000251322ENST00000262795p.H144Rc.431A>GSubstitution - Missense
PSME4ENSG00000068878ENST00000404125p.?c.1979-8G>CUnknown
BCL7CENSG00000099385ENST00000215115p.G85Gc.255C>TSubstitution - coding silent
MLXIPLENSG00000009950ENST00000313375p.W766*c.2298G>ASubstitution - Nonsense
MUC17ENSG00000169876ENST00000306151p.T943Kc.2828C>ASubstitution - Missense
DSTENSG00000151914ENST00000370765p.R370Qc.1109G>ASubstitution - Missense
IL2RBENSG00000100385ENST00000216223p.W223*c.669G>ASubstitution - Nonsense
APOBEC3AENSG00000128383ENST00000402255p.R189Rc.567G>ASubstitution - coding silent
SALL3ENSG00000256463ENST00000537592p.T749Ic.2246C>TSubstitution - Missense
NM_002439.1p.Q865*c.2593C>TSubstitution - Nonsense
PCDH11XENSG00000102290ENST00000395337p.L57*c.170T>ASubstitution - Nonsense
ARRDC2ENSG00000105643ENST00000379656p.L238Lc.714C>TSubstitution - coding silent
CC2D2AENSG00000048342ENST00000424120p.?c.1150-4G>AUnknown
TMEM211ENSG00000206069ENST00000423535p.V71Mc.211G>ASubstitution - Missense
GALNT3ENSG00000115339ENST00000392701p.L335Fc.1003C>TSubstitution - Missense
CAPN12ENSG00000182472ENST00000328867p.Q617*c.1849C>TSubstitution - Nonsense
TTC21BENSG00000123607ENST00000243344p.R655Wc.1963C>TSubstitution - Missense
FNIP2ENSG00000052795ENST00000264433p.M1019Ic.3057G>ASubstitution - Missense
SREK1IP1ENSG00000153006ENST00000513458p.C6Cc.18C>TSubstitution - coding silent
PSMG4ENSG00000180822ENST00000324987p.F51Yc.152T>ASubstitution - Missense
NPIPB5ENSG00000243716ENST00000424340p.A507Ac.1521G>ASubstitution - coding silent
USH2AENSG00000042781ENST00000366943p.T3659Ic.10976C>TSubstitution - Missense
OR8H2ENSG00000181767ENST00000313503p.L31Ic.91C>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.G2918Ec.8753G>ASubstitution - Missense
SH3GLB2ENSG00000148341ENST00000372554p.K117Ec.349A>GSubstitution - Missense
PRLRENSG00000113494ENST00000542609p.L131Lc.393G>ASubstitution - coding silent
CDK14ENSG00000058091ENST00000265741p.F18Fc.54C>TSubstitution - coding silent
ANO2ENSG00000047617ENST00000327087p.?c.523-1G>TUnknown
ENST00000499676_v70p.R196*c.586C>TSubstitution - Nonsense
SMEK2ENSG00000138041ENST00000272313p.D485Hc.1453G>CSubstitution - Missense
TIMELESSENSG00000111602ENST00000553532p.R941Wc.2821C>TSubstitution - Missense
KCNA6ENSG00000151079ENST00000280684p.L56Lc.166T>CSubstitution - coding silent
ENST00000349637p.T4421Kc.13262C>ASubstitution - Missense
ENST00000266746p.G124Rc.370G>ASubstitution - Missense
PSMB11ENSG00000222028ENST00000408907p.D143Nc.427G>ASubstitution - Missense
ENST00000268134p.S1385Ac.4153T>GSubstitution - Missense
CLIP1ENSG00000130779ENST00000358808p.I620Ic.1860C>TSubstitution - coding silent
CCDC88BENSG00000168071ENST00000356786p.P1465Pc.4395G>ASubstitution - coding silent
ENST00000414575p.C536Yc.1607G>ASubstitution - Missense
NCAPD3ENSG00000151503ENST00000534548p.V365Gc.1094T>GSubstitution - Missense
BTBD10ENSG00000148925ENST00000278174p.Y231Fc.692A>TSubstitution - Missense
DDX59ENSG00000118197ENST00000331314p.L488fs*5c.1461_1462delATDeletion - Frameshift
ENST00000313929p.R364Cc.1090C>TSubstitution - Missense
CYFIP1ENSG00000068793ENST00000435939p.E231Ec.693G>ASubstitution - coding silent
REXO2ENSG00000076043ENST00000265881p.?c.148-4G>AUnknown
CASZ1ENSG00000130940ENST00000377022p.A830Sc.2488G>TSubstitution - Missense
SLC12A1ENSG00000074803ENST00000396577p.K56Ic.167A>TSubstitution - Missense
MOSENSG00000172680ENST00000311923p.P83Lc.248C>TSubstitution - Missense
PLD2ENSG00000129219ENST00000263088p.N141Sc.422A>GSubstitution - Missense
VRK3ENSG00000105053ENST00000316763p.S127Rc.381C>GSubstitution - Missense
SHANK1ENSG00000161681ENST00000391813p.R557Lc.1670G>TSubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.G58Sc.172G>ASubstitution - Missense
FAM47EENSG00000189157ENST00000339906p.?c.221+1G>CUnknown
RPIAENSG00000153574ENST00000283646p.Q2Rc.5A>GSubstitution - Missense
FRG2CENSG00000172969ENST00000308062p.D109Gc.326A>GSubstitution - Missense
C19orf24ENSG00000228300ENST00000409293p.D119Hc.355G>CSubstitution - Missense
C9orf156ENSG00000136932ENST00000375119p.V433Vc.1299G>TSubstitution - coding silent
FAM3DENSG00000198643ENST00000358781p.D156Dc.468T>CSubstitution - coding silent
STMN4ENSG00000015592ENST00000350889p.T66Mc.197C>TSubstitution - Missense
NM_007332.1p.?c.993+7A>TUnknown
PTNENSG00000105894ENST00000348225p.E98fs*14c.292delGDeletion - Frameshift
ADCK2ENSG00000133597ENST00000072869p.G495Sc.1483G>ASubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.L1134Lc.3402C>TSubstitution - coding silent
CD300LFENSG00000186074ENST00000326165p.Q21Hc.63A>CSubstitution - Missense
TACC1ENSG00000147526ENST00000317827p.E726fs*21c.2175_2176insAInsertion - Frameshift
ENST00000338994p.L248Rc.743T>GSubstitution - Missense
CNOT1ENSG00000125107ENST00000441024p.D1427Hc.4279G>CSubstitution - Missense
TTC31ENSG00000115282ENST00000233623p.?c.929-8C>AUnknown
PHF21BENSG00000056487ENST00000313237p.S326Fc.977C>TSubstitution - Missense
KALRNENSG00000160145ENST00000240874p.D1266Dc.3798C>TSubstitution - coding silent
NGEFENSG00000066248ENST00000264051p.?c.269-7G>TUnknown
NM_014614.1p.?c.1637-8G>CUnknown
PCLOENSG00000186472ENST00000333891p.S4950Gc.14848A>GSubstitution - Missense
NM_001184p.A1393Vc.4178C>TSubstitution - Missense
DSTENSG00000151914ENST00000370765p.A1944Vc.5831C>TSubstitution - Missense
MCHR2ENSG00000152034ENST00000369212p.A324Vc.971C>TSubstitution - Missense
PPP2R2BENSG00000156475ENST00000394413p.T222Mc.665C>TSubstitution - Missense
SGSM1ENSG00000167037ENST00000400358p.R614Qc.1841G>ASubstitution - Missense
KCNMA1ENSG00000156113ENST00000354353p.I947Mc.2841C>GSubstitution - Missense
DENND2AENSG00000146966ENST00000492720p.Q505Pc.1514A>CSubstitution - Missense
ENST00000302418_v70p.A479Ac.1437A>GSubstitution - coding silent
ITGA1ENSG00000213949ENST00000282588p.V590Gc.1769T>GSubstitution - Missense
WSCD2ENSG00000075035ENST00000261400p.A128Ac.384C>GSubstitution - coding silent
ALDH3A2ENSG00000072210ENST00000176643p.F351Fc.1053C>TSubstitution - coding silent
FAM149AENSG00000109794ENST00000356371p.F765Lc.2295C>GSubstitution - Missense
LAMB4ENSG00000091128ENST00000388780p.S1318Lc.3953C>TSubstitution - Missense
ENST00000296270_v68p.K24Nc.72G>TSubstitution - Missense
SYT15ENSG00000204176ENST00000374325p.L300Fc.898C>TSubstitution - Missense
MTPAPENSG00000107951ENST00000263063p.G301Vc.902G>TSubstitution - Missense
PTPRQENSG00000139304ENST00000266688p.A2183Vc.6548C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.L5829Lc.17485C>TSubstitution - coding silent
ENST00000368148p.A2097Pc.6289G>CSubstitution - Missense
PLXNA2ENSG00000076356ENST00000367033p.?c.3640-5C>TUnknown
ACANENSG00000157766ENST00000439576p.E1380Ec.4140G>ASubstitution - coding silent
CHRNA3ENSG00000080644ENST00000326828p.N125Tc.374A>CSubstitution - Missense
STARD10ENSG00000214530ENST00000334805p.R71Rc.213G>CSubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.G955Rc.2863G>ASubstitution - Missense
ENSG00000270149ENST00000289779p.K78Rc.233A>GSubstitution - Missense
SPG20ENSG00000133104ENST00000355182p.P407Pc.1221A>GSubstitution - coding silent
FREM2ENSG00000150893ENST00000280481p.L2946Lc.8838C>TSubstitution - coding silent
COL2A1ENSG00000139219ENST00000380518p.?c.86-4G>AUnknown
VEZTENSG00000028203ENST00000436874p.?c.259-7T>AUnknown
MRVI1ENSG00000072952ENST00000436272p.N724Nc.2172T>CSubstitution - coding silent
AKR1C1ENSG00000187134ENST00000380872p.Y323*c.969T>GSubstitution - Nonsense
CIITAENSG00000179583ENST00000324288p.R802Qc.2405G>ASubstitution - Missense
VPS39ENSG00000166887ENST00000318006p.L578Vc.1732C>GSubstitution - Missense
POLA2ENSG00000014138ENST00000265465p.Q437Rc.1310A>GSubstitution - Missense
SRGAP2ENSG00000163486ENST00000414007p.T100Tc.300G>ASubstitution - coding silent
DDX47ENSG00000213782ENST00000358007p.G120Rc.358G>CSubstitution - Missense
FAM69AENSG00000154511ENST00000370310p.A19Tc.55G>ASubstitution - Missense
PRLRENSG00000113494ENST00000382002p.L131Lc.393G>ASubstitution - coding silent
ZNF624ENSG00000197566ENST00000311331p.L827Fc.2481G>CSubstitution - Missense
LBPENSG00000129988ENST00000217407p.?c.1149+2deltUnknown
ATP2A3ENSG00000074370ENST00000359983p.?c.1185-5C>TUnknown
FAM178BENSG00000168754ENST00000393526p.R7Rc.21G>ASubstitution - coding silent
SMCHD1ENSG00000101596ENST00000261598p.M1639Tc.4916T>CSubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.G2963Ec.8888G>ASubstitution - Missense
DTHD1ENSG00000197057ENST00000357504p.?c.1470+3G>TUnknown
TCAPENSG00000173991ENST00000309889p.S161Sc.483C>TSubstitution - coding silent
TLR1ENSG00000174125ENST00000308979p.H744Qc.2232C>GSubstitution - Missense
RPL13ENSG00000167526ENST00000393099p.I194Mc.582A>GSubstitution - Missense
ZSCAN32ENSG00000140987ENST00000304926p.G152Rc.454G>ASubstitution - Missense
CREBBPENSG00000005339ENST00000262367p.M2053Vc.6157A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.K11432Ic.34295A>TSubstitution - Missense
RHBDD3ENSG00000100263ENST00000216085p.A13Tc.37G>ASubstitution - Missense
LRRTM1ENSG00000162951ENST00000417012p.S390Sc.1170G>CSubstitution - coding silent
WDR36ENSG00000134987ENST00000506538p.V144Vc.432T>CSubstitution - coding silent
ENST00000269290p.A136Tc.406G>ASubstitution - Missense
ACSL3ENSG00000123983ENST00000357430p.R702Hc.2105G>ASubstitution - Missense
NHEJ1ENSG00000187736ENST00000356853p.Q147Qc.441G>ASubstitution - coding silent
NM_006596.3p.V585Lc.1753G>TSubstitution - Missense
GUSBENSG00000169919ENST00000304895p.K350Kc.1050G>ASubstitution - coding silent
ZCWPW1ENSG00000078487ENST00000398027p.V255Ic.763G>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.F369Vc.1105T>GSubstitution - Missense
ARHGAP10ENSG00000071205ENST00000336498p.K155Qc.463A>CSubstitution - Missense
DSTENSG00000151914ENST00000244364p.R370Qc.1109G>ASubstitution - Missense
MKL1ENSG00000196588ENST00000355630p.R813Cc.2437C>TSubstitution - Missense
MSH3ENSG00000113318ENST00000265081p.Q874*c.2620C>TSubstitution - Nonsense
XM_291322.3p.R610Pc.1829G>CSubstitution - Missense
PCDHB7ENSG00000113212ENST00000231137p.V382Vc.1146G>ASubstitution - coding silent
GJA10ENSG00000135355ENST00000369352p.L114Lc.342T>CSubstitution - coding silent
ZBBXENSG00000169064ENST00000392766p.K160Ec.478A>GSubstitution - Missense
RBM42ENSG00000126254ENST00000262633p.R358Qc.1073G>ASubstitution - Missense
SCAND3ENSG00000232040ENST00000452236p.T466Ac.1396A>GSubstitution - Missense
NEBENSG00000183091ENST00000427231p.R6743Cc.20227C>TSubstitution - Missense
AHRENSG00000106546ENST00000242057p.I341Nc.1022T>ASubstitution - Missense
PIAS4ENSG00000105229ENST00000262971p.?c.672+3G>AUnknown
MARCH1ENSG00000145416ENST00000503008p.Q108Hc.324G>CSubstitution - Missense
NSD1ENSG00000165671ENST00000439151p.S2338Rc.7014C>GSubstitution - Missense
MYT1LENSG00000186487ENST00000428368p.E161Ec.483G>ASubstitution - coding silent
CACNA1HENSG00000196557ENST00000348261p.T2289Tc.6867C>TSubstitution - coding silent
TESK2ENSG00000070759ENST00000372086p.R485Cc.1453C>TSubstitution - Missense
DOCK9ENSG00000088387ENST00000442173p.R477Ic.1430G>TSubstitution - Missense
DIP2CENSG00000151240ENST00000381496p.G204Gc.612C>TSubstitution - coding silent
DNAH17ENSG00000187775ENST00000389840p.P1426Lc.4277C>TSubstitution - Missense
PLA2G4CENSG00000105499ENST00000599111p.C361Cc.1083C>TSubstitution - coding silent
TTC7BENSG00000165914ENST00000357056p.?c.277-1G>AUnknown
SLC12A4ENSG00000124067ENST00000537830p.R185Lc.554G>TSubstitution - Missense
ZSCAN32ENSG00000140987ENST00000396852p.G364Rc.1090G>ASubstitution - Missense
TNFRSF13BENSG00000240505ENST00000437538p.G30Sc.88G>ASubstitution - Missense
CYTH1ENSG00000108669ENST00000446868p.?c.170+7C>GUnknown
EPS15L1ENSG00000127527ENST00000455140p.T322Mc.965C>TSubstitution - Missense
EPB41L3ENSG00000082397ENST00000544123p.E68Qc.202G>CSubstitution - Missense
PSMF1ENSG00000125818ENST00000246015p.I222Tc.665T>CSubstitution - Missense
OSBPL2ENSG00000130703ENST00000439951p.?c.216-7G>AUnknown
CACNA1IENSG00000100346ENST00000336649p.C1658Cc.4974C>TSubstitution - coding silent
DEPDC5ENSG00000100150ENST00000400246p.T954Tc.2862C>TSubstitution - coding silent
KREMEN1ENSG00000183762ENST00000400335p.P332Hc.995C>ASubstitution - Missense
ERGENSG00000157554ENST00000288319p.N359Kc.1077C>ASubstitution - Missense
ENST00000266078p.V40Lc.118G>TSubstitution - Missense
SCN1AENSG00000144285ENST00000423058p.E1813Ec.5439G>ASubstitution - coding silent
ZRANB3ENSG00000121988ENST00000536680p.K751Tc.2252A>CSubstitution - Missense
CXCR4ENSG00000121966ENST00000241393p.S341Fc.1022C>TSubstitution - Missense
PDIA6ENSG00000143870ENST00000381611p.P243Lc.728C>TSubstitution - Missense
ATG4BENSG00000168397ENST00000474739p.E298Kc.892G>ASubstitution - Missense
ATG4BENSG00000168397ENST00000405546p.E312Kc.934G>ASubstitution - Missense
NHEJ1ENSG00000187736ENST00000409720p.Q147Qc.441G>ASubstitution - coding silent
FGF12ENSG00000114279ENST00000445105p.D36Ec.108C>ASubstitution - Missense
PROM1ENSG00000007062ENST00000543373p.G562Sc.1684G>ASubstitution - Missense
IL17RDENSG00000144730ENST00000427856p.P611Pc.1833T>ASubstitution - coding silent
DDX59ENSG00000118197ENST00000367348p.L488fs*5c.1461_1462delATDeletion - Frameshift
SLITRK5ENSG00000165300ENST00000400028p.Q711fs*5c.2130_2131insAInsertion - Frameshift
USP54ENSG00000166348ENST00000319786p.A28fs*7c.83_87delCCCCCDeletion - Frameshift
HSP90AA1ENSG00000080824ENST00000441629p.?c.1221_1242del22Unknown
HSP90AA1ENSG00000080824ENST00000441629p.?c.801+1_802-1del99Unknown
KIAA1731ENSG00000166004ENST00000411936p.L2030Lc.6090G>ASubstitution - coding silent
APBB1ENSG00000166313ENST00000389906p.E354*c.1060G>TSubstitution - Nonsense
TACC1ENSG00000147526ENST00000379931p.E738fs*21c.2211_2212insAInsertion - Frameshift
PTCD1ENSG00000106246ENST00000555673p.?c.121+3_121+824del822Unknown
TRIM4ENSG00000146833ENST00000354241p.T247fs*7c.738_741delGACCDeletion - Frameshift
UBN2ENSG00000157741ENST00000473989p.K292delKc.869_871delAGADeletion - In frame
DNAH8ENSG00000124721ENST00000449981p.Q1911fs*20c.5729_5730delCADeletion - Frameshift
DNAH8ENSG00000124721ENST00000449981p.K2498fs*11c.7492delADeletion - Frameshift
PRLRENSG00000113494ENST00000231423p.L131Lc.393G>ASubstitution - coding silent
PPP2R2BENSG00000156475ENST00000504198p.T228Mc.683C>TSubstitution - Missense
SLC17A2ENSG00000112337ENST00000377850p.S27Sc.81A>CSubstitution - coding silent
ENST00000600652p.L153Qc.458T>ASubstitution - Missense
SCAF8ENSG00000213079ENST00000367186p.Q1297Qc.3891G>ASubstitution - coding silent
TRERF1ENSG00000124496ENST00000541110p.?c.2397-1G>CUnknown
DNAH8ENSG00000124721ENST00000449981p.?c.10790+2T>CUnknown
DNAH8ENSG00000124721ENST00000449981p.P104Pc.312G>CSubstitution - coding silent
C1GALT1ENSG00000106392ENST00000402468p.N251Dc.751A>GSubstitution - Missense
FKBP9ENSG00000122642ENST00000538336p.C155Cc.465C>TSubstitution - coding silent
TACC1ENSG00000147526ENST00000443286p.A227Tc.679G>ASubstitution - Missense
FGFR1ENSG00000077782ENST00000341462p.Y613Yc.1839T>CSubstitution - coding silent
ADAM28ENSG00000042980ENST00000437154p.S120Gc.358A>GSubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.V1298Vc.3894A>GSubstitution - coding silent
ZFHX4ENSG00000091656ENST00000050961p.K1526*c.4576A>TSubstitution - Nonsense
TRPA1ENSG00000104321ENST00000262209p.?c.993+7A>TUnknown
RNF38ENSG00000137075ENST00000377877p.?c.1258-9G>TUnknown
CNTFRENSG00000122756ENST00000378980p.A15Ac.45C>TSubstitution - coding silent
PCDH11XENSG00000102290ENST00000361724p.L57*c.170T>ASubstitution - Nonsense
HEPHENSG00000089472ENST00000519389p.L831Lc.2493G>CSubstitution - coding silent
TNXBENSG00000168477ENST00000375247p.D1441Nc.4321G>ASubstitution - Missense
ENST00000414315p.H82Rc.245A>GSubstitution - Missense
PLXNA2ENSG00000076356ENST00000367033p.E829Kc.2485G>ASubstitution - Missense
NM_145313.1p.T389Mc.1166C>TSubstitution - Missense
ENST00000349637p.T3812Tc.11436C>TSubstitution - coding silent
EXOC6ENSG00000138190ENST00000371552p.V124Vc.372A>GSubstitution - coding silent
ENST00000338294p.P59Pc.177C>TSubstitution - coding silent
TRAPPC9ENSG00000167632ENST00000389328p.I675Mc.2025C>GSubstitution - Missense
COL22A1ENSG00000169436ENST00000303045p.G569Gc.1707G>CSubstitution - coding silent
FAM135BENSG00000147724ENST00000395297p.C416Rc.1246T>CSubstitution - Missense
OR1L4ENSG00000136939ENST00000259466p.L205Ic.613T>ASubstitution - Missense
TTLL11ENSG00000175764ENST00000321582p.G442Rc.1324G>CSubstitution - Missense
TTLL11ENSG00000175764ENST00000373776p.G442Rc.1324G>CSubstitution - Missense
DNAJB11ENSG00000090520ENST00000439351p.D55Nc.163G>ASubstitution - Missense
MARCH1ENSG00000145416ENST00000339875p.Q91Hc.273G>CSubstitution - Missense
ETFDHENSG00000171503ENST00000511912p.?c.1690+4A>GUnknown
FGF12ENSG00000114279ENST00000454309p.D98Ec.294C>ASubstitution - Missense
FBLL1ENSG00000188573ENST00000338333p.I193Fc.577A>TSubstitution - Missense
UIMC1ENSG00000087206ENST00000377227p.T25Tc.75C>TSubstitution - coding silent
SLC38A9ENSG00000177058ENST00000539768p.S421Fc.1262C>TSubstitution - Missense
CCNOENSG00000152669ENST00000282572p.L184Fc.550C>TSubstitution - Missense
ADAMTS16ENSG00000145536ENST00000274181p.G727Vc.2180G>TSubstitution - Missense
NM_139056.1p.G727Vc.2180G>TSubstitution - Missense
ITGA2ENSG00000164171ENST00000296585p.A217Gc.650C>GSubstitution - Missense
NM_002203.2p.A217Gc.650C>GSubstitution - Missense
NNTENSG00000112992ENST00000264663p.G1026Gc.3078C>TSubstitution - coding silent
FGF10ENSG00000070193ENST00000264664p.V206Ic.616G>ASubstitution - Missense
NSD1ENSG00000165671ENST00000439151p.S2338Rc.7014C>GSubstitution - Missense
NSD1ENSG00000165671ENST00000439151p.?c.4966+6G>AUnknown
TDRD6ENSG00000180113ENST00000316081p.D1286Yc.3856G>TSubstitution - Missense
VEGFAENSG00000112715ENST00000372055p.Y346Nc.1036T>ASubstitution - Missense
TP53ENSG00000141510ENST00000420246p.H214Rc.641A>GSubstitution - Missense
KCNMA1ENSG00000156113ENST00000404771p.I881Mc.2643C>GSubstitution - Missense
KCNMA1ENSG00000156113ENST00000372443p.I886Mc.2658C>GSubstitution - Missense
AP1B1ENSG00000100280ENST00000415447p.Y361Yc.1083C>TSubstitution - coding silent
PTPRSENSG00000105426ENST00000372412p.R1242Cc.3724C>TSubstitution - Missense
ENST00000344936_v70p.T626Nc.1877C>ASubstitution - Missense
MPP7ENSG00000150054ENST00000445954p.?c.316-4C>TUnknown
DOCK1ENSG00000150760ENST00000280333p.Q139*c.415C>TSubstitution - Nonsense
EXOC6ENSG00000138190ENST00000371547p.V145Vc.435A>GSubstitution - coding silent
KCNMA1ENSG00000156113ENST00000354353p.D960Yc.2878G>TSubstitution - Missense
KCNMA1ENSG00000156113ENST00000404771p.D894Yc.2680G>TSubstitution - Missense
ENST00000373120p.?c.577-10T>CUnknown
TRIM64CENSG00000214891ENST00000530230p.A326Sc.976G>TSubstitution - Missense
ENST00000340070p.A326Sc.976G>TSubstitution - Missense
SIDT2ENSG00000149577ENST00000278951p.V714Ic.2140G>ASubstitution - Missense
ARHGAP20ENSG00000137727ENST00000533353p.H299Rc.896A>GSubstitution - Missense
OR4C11ENSG00000172188ENST00000302231p.T190Ic.569C>TSubstitution - Missense
OR52D1ENSG00000181609ENST00000322641p.G268Ac.803G>CSubstitution - Missense
POLA2ENSG00000014138ENST00000541089p.Q229Rc.686A>GSubstitution - Missense
CLIP1ENSG00000130779ENST00000540338p.I631Ic.1893C>TSubstitution - coding silent
KLRC2ENSG00000205809ENST00000381901p.W138Rc.412T>CSubstitution - Missense
GNPTABENSG00000111670ENST00000549940p.N273Nc.819C>TSubstitution - coding silent
ENST00000458043_v65p.S1105Nc.3314G>ASubstitution - Missense
ENST00000540389p.L101Lc.301C>TSubstitution - coding silent
KIAA0226LENSG00000102445ENST00000378797p.P588Lc.1763C>TSubstitution - Missense
SPATA13ENSG00000182957ENST00000343003p.R215Cc.643C>TSubstitution - Missense
FHAD1ENSG00000142621ENST00000358897p.H950Hc.2850T>CSubstitution - coding silent
COLGALT2ENSG00000198756ENST00000367520p.M60Vc.178A>GSubstitution - Missense
PADI2ENSG00000117115ENST00000375486p.G409Ec.1226G>ASubstitution - Missense
SPATA21ENSG00000187144ENST00000540400p.L55Hc.164T>ASubstitution - Missense
NCSTNENSG00000162736ENST00000368063p.W64Cc.192G>CSubstitution - Missense
NCSTNENSG00000162736ENST00000438008p.W117Cc.351G>CSubstitution - Missense
OR14A2ENSG00000241128ENST00000366485p.F249Lc.747T>ASubstitution - Missense
NFIAENSG00000162599ENST00000371191p.?c.1324-8C>GUnknown
MACF1ENSG00000127603ENST00000317713p.?c.7333-7C>TUnknown
TTC8ENSG00000165533ENST00000338104p.?c.235+8T>GUnknown
ENSG00000117600ENST00000370184p.D605Dc.1815T>CSubstitution - coding silent
UNC13CENSG00000137766ENST00000545554p.H651Nc.1951C>ASubstitution - Missense
DUOX1ENSG00000137857ENST00000561166p.?c.3186+6T>AUnknown
SERPINA9ENSG00000170054ENST00000546329p.V57Ic.169G>ASubstitution - Missense
GCKENSG00000106633ENST00000345378p.T6Tc.18A>GSubstitution - coding silent
CHPF2ENSG00000033100ENST00000035307p.R233Qc.698G>ASubstitution - Missense
EGFRENSG00000146648ENST00000275493p.K327Ec.979A>GSubstitution - Missense
EGFRENSG00000146648ENST00000344576p.K327Ec.979A>GSubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.Q664*c.1990C>TSubstitution - Nonsense
ENST00000319379p.Q609*c.1825C>TSubstitution - Nonsense
ABCA13ENSG00000179869ENST00000435803p.I68Ic.204C>TSubstitution - coding silent
ENST00000319379p.I13Ic.39C>TSubstitution - coding silent
GRHL2ENSG00000083307ENST00000251808p.D162Ac.485A>CSubstitution - Missense
SPAG1ENSG00000104450ENST00000388798p.A278Pc.832G>CSubstitution - Missense
PILRBENSG00000121716ENST00000448382p.S81Sc.243G>ASubstitution - coding silent
SUMF2ENSG00000129103ENST00000342190p.S301Sc.903G>ASubstitution - coding silent
HYDINENSG00000157423ENST00000321489p.K958fs*1c.2871_2872insTInsertion - Frameshift
ENST00000316490_v65p.K958fs*1c.2871_2872insTInsertion - Frameshift
ENST00000316490p.K958fs*1c.2871_2872insTInsertion - Frameshift
ENST00000316490_v65p.L2723Lc.8169G>ASubstitution - coding silent
ENST00000316490p.L2675Lc.8025G>ASubstitution - coding silent
NPIPB5ENSG00000243716ENST00000424340p.G658Vc.1973G>TSubstitution - Missense
NPIPB5ENSG00000243716ENST00000424340p.G658Vc.1973G>TSubstitution - Missense
NPIPB5ENSG00000243716ENST00000424340p.A507Ac.1521G>ASubstitution - coding silent
XM_496125.1p.R731Cc.2191C>TSubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.P186Sc.556C>TSubstitution - Missense
SAMD1ENSG00000141858ENST00000533683p.G316Gc.948G>ASubstitution - coding silent
ENST00000533683_v68p.G316Gc.948G>ASubstitution - coding silent
RFX1ENSG00000132005ENST00000254325p.L722Lc.2166C>GSubstitution - coding silent
NTN3ENSG00000162068ENST00000293973p.R453Lc.1358G>TSubstitution - Missense
SLC5A11ENSG00000158865ENST00000347898p.R512Lc.1535G>TSubstitution - Missense
EPS15L1ENSG00000127527ENST00000248070p.T322Mc.965C>TSubstitution - Missense
TCF3ENSG00000071564ENST00000262965p.K614Kc.1842A>GSubstitution - coding silent
TCF3ENSG00000071564ENST00000344749p.K611Kc.1833A>GSubstitution - coding silent
PSG11ENSG00000243130ENST00000401740p.R98*c.292C>TSubstitution - Nonsense
ANKLE1ENSG00000160117ENST00000404261p.Y486Yc.1458C>TSubstitution - coding silent
ENST00000348077p.A157Tc.469G>ASubstitution - Missense
L3MBTL1ENSG00000185513ENST00000373134p.P26Pc.78T>GSubstitution - coding silent
CHD6ENSG00000124177ENST00000373222p.Q79*c.235C>TSubstitution - Nonsense
NCOA3ENSG00000124151ENST00000371998p.G994Wc.2980G>TSubstitution - Missense
SLC13A3ENSG00000158296ENST00000279027p.Y301Yc.903C>TSubstitution - coding silent
FITM2ENSG00000197296ENST00000396825p.T190fs*9c.567delCDeletion - Frameshift
TOX2ENSG00000124191ENST00000372999p.A106Tc.316G>ASubstitution - Missense
NEBENSG00000183091ENST00000427231p.R2812Hc.8435G>ASubstitution - Missense
NEBENSG00000183091ENST00000409198p.R2812Hc.8435G>ASubstitution - Missense
NEBENSG00000183091ENST00000397345p.R6743Cc.20227C>TSubstitution - Missense
RBM43ENSG00000184898ENST00000331426p.E294Kc.880G>ASubstitution - Missense
AASDHENSG00000157426ENST00000205214p.I675Mc.2025T>GSubstitution - Missense
PRPF40AENSG00000196504ENST00000410080p.D106Ec.318T>ASubstitution - Missense
PRPF40AENSG00000196504ENST00000354363p.D2Ec.6T>ASubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.V781Vc.2343G>ASubstitution - coding silent
KIAA0232ENSG00000170871ENST00000307659p.V186Fc.556G>TSubstitution - Missense
ELFN1ENSG00000225968ENST00000424383p.E791Vc.2372A>TSubstitution - Missense
SOSTDC1ENSG00000171243ENST00000307068p.L50Fc.150G>TSubstitution - Missense
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
SGSM1ENSG00000167037ENST00000400358p.D434Ec.1302T>GSubstitution - Missense
CABIN1ENSG00000099991ENST00000398319p.P2104Lc.6311C>TSubstitution - Missense
BBS5ENSG00000163093ENST00000295240p.L253Lc.759T>CSubstitution - coding silent
SCN7AENSG00000136546ENST00000409855p.R441Rc.1323G>ASubstitution - coding silent
SCN7AENSG00000136546ENST00000409855p.R441Rc.1323G>ASubstitution - coding silent
SCN1AENSG00000144285ENST00000303395p.E1813Ec.5439G>ASubstitution - coding silent
SCN1AENSG00000144285ENST00000375405p.E1802Ec.5406G>ASubstitution - coding silent
KHDRBS3ENSG00000131773ENST00000355849p.L229Lc.687G>ASubstitution - coding silent
TGENSG00000042832ENST00000220616p.R2127*c.6379C>TSubstitution - Nonsense
KIAA0196ENSG00000164961ENST00000318410p.?c.418-9T>GUnknown
ENST00000317826p.S56Tc.166T>ASubstitution - Missense
NM_138995p.E915Kc.2743G>ASubstitution - Missense
MPOENSG00000005381ENST00000225275p.?c.1793-10C>TUnknown
MPOENSG00000005381ENST00000340482p.?c.1889-10C>TUnknown
ZNF585AENSG00000196967ENST00000356958p.M259Ic.777G>TSubstitution - Missense
WDR62ENSG00000075702ENST00000270301p.E809Kc.2425G>ASubstitution - Missense
ZBBXENSG00000169064ENST00000455345p.K160Ec.478A>GSubstitution - Missense
BCHEENSG00000114200ENST00000264381p.V496Vc.1488G>ASubstitution - coding silent
BCHEENSG00000114200ENST00000264381p.E189Kc.565G>ASubstitution - Missense
SIENSG00000090402ENST00000264382p.?c.4842-10T>GUnknown
ATP11BENSG00000058063ENST00000323116p.G1113Gc.3339T>ASubstitution - coding silent
FCHSD1ENSG00000197948ENST00000435817p.G115Ec.344G>ASubstitution - Missense
PCDHGB2ENSG00000253910ENST00000522605p.R535Hc.1604G>ASubstitution - Missense
FBXO38ENSG00000145868ENST00000340253p.A370Ac.1110G>ASubstitution - coding silent
DPYSL3ENSG00000113657ENST00000398514p.I365Fc.1093A>TSubstitution - Missense
PPP2R2BENSG00000156475ENST00000508545p.T211Mc.632C>TSubstitution - Missense
FCHSD1ENSG00000197948ENST00000435817p.R522*c.1564C>TSubstitution - Nonsense
AK8ENSG00000165695ENST00000298545p.L316Lc.948C>TSubstitution - coding silent
AK8ENSG00000165695ENST00000298545p.L316Lc.948C>TSubstitution - coding silent
SPATA31E1ENSG00000177992ENST00000325643p.R724Rc.2172G>ASubstitution - coding silent
ENST00000354530p.E5Qc.13G>CSubstitution - Missense
HNRNPUL1ENSG00000105323ENST00000392006p.P279Pc.837C>TSubstitution - coding silent
AXLENSG00000167601ENST00000301178p.Q432Pc.1295A>CSubstitution - Missense
CYP2A13ENSG00000197838ENST00000330436p.R143Rc.429C>ASubstitution - coding silent
CREB3L3ENSG00000060566ENST00000078445p.P118Ac.352C>GSubstitution - Missense
SPTBN4ENSG00000160460ENST00000392023p.E608Kc.1822G>ASubstitution - Missense
YAE1D1ENSG00000241127ENST00000223273p.V72Vc.216C>TSubstitution - coding silent
CDK13ENSG00000065883ENST00000181839p.R626Qc.1877G>ASubstitution - Missense
ENST00000409072_v68p.E88Ec.264A>GSubstitution - coding silent
EEPD1ENSG00000122547ENST00000242108p.A367Vc.1100C>TSubstitution - Missense
FKBP9ENSG00000122642ENST00000242209p.C102Cc.306C>TSubstitution - coding silent
MCF2ENSG00000101977ENST00000370573p.D42Dc.126C>TSubstitution - coding silent
SRA1ENSG00000213523ENST00000336283p.S34Lc.101C>TSubstitution - Missense
MATR3ENSG00000015479ENST00000394805p.H428Qc.1284T>GSubstitution - Missense
PCDHA13ENSG00000239389ENST00000289272p.E94Kc.280G>ASubstitution - Missense
ENST00000305759p.R202Cc.604C>TSubstitution - Missense
SLC25A2ENSG00000120329ENST00000239451p.E260*c.778G>TSubstitution - Nonsense
PCDHB11ENSG00000197479ENST00000354757p.R712Wc.2134C>TSubstitution - Missense
PCDHB7ENSG00000113212ENST00000231137p.P539Pc.1617C>GSubstitution - coding silent
PCDHB7ENSG00000113212ENST00000231137p.R672Rc.2014C>ASubstitution - coding silent
C5orf52ENSG00000187658ENST00000409999p.P85Pc.255C>TSubstitution - coding silent
CYFIP2ENSG00000055163ENST00000318218p.R395Wc.1183C>TSubstitution - Missense
CYFIP2ENSG00000055163ENST00000442283p.R395Wc.1183C>TSubstitution - Missense
CYFIP2ENSG00000055163ENST00000377576p.R395Wc.1183C>TSubstitution - Missense
GALNT10ENSG00000164574ENST00000425427p.Q85*c.253C>TSubstitution - Nonsense
NKAPLENSG00000189134ENST00000343684p.K379Nc.1137G>CSubstitution - Missense
ZSCAN16ENSG00000196812ENST00000340487p.Q88Lc.263A>TSubstitution - Missense
HIST1H3IENSG00000182572ENST00000328488p.R129Rc.387C>TSubstitution - coding silent
TENM2ENSG00000145934ENST00000518659p.L1465Vc.4393C>GSubstitution - Missense
TENM2ENSG00000145934ENST00000519204p.L1344Vc.4030C>GSubstitution - Missense
ENST00000388903p.L1298Vc.3892C>GSubstitution - Missense
GABRG2ENSG00000113327ENST00000356592p.K253Kc.759G>ASubstitution - coding silent
DPCR1ENSG00000168631ENST00000462446p.E681Kc.2041G>ASubstitution - Missense
OR12D2ENSG00000168787ENST00000383555p.F152fs*8c.450delTDeletion - Frameshift
OR5V1ENSG00000243729ENST00000377154p.F205Sc.614T>CSubstitution - Missense
ZSCAN23ENSG00000187987ENST00000289788p.Q239Kc.715C>ASubstitution - Missense
ENST00000364810p.F168Fc.504C>TSubstitution - coding silent
HLA-CENSG00000204525ENST00000376228p.A159Ac.477C>TSubstitution - coding silent
ENST00000539307p.A196Ac.588C>TSubstitution - coding silent
PSORS1C2ENSG00000204538ENST00000259845p.R68Hc.203G>ASubstitution - Missense
MUC21ENSG00000204544ENST00000376296p.T262Ac.784A>GSubstitution - Missense
LAMB4ENSG00000091128ENST00000205386p.S1318Lc.3953C>TSubstitution - Missense
ENST00000326295p.G196Sc.586G>ASubstitution - Missense
EPHA1ENSG00000146904ENST00000275815p.R88Hc.263G>ASubstitution - Missense
EPHA1ENSG00000146904ENST00000275815p.R88Hc.263G>ASubstitution - Missense
PKD1L1ENSG00000158683ENST00000289672p.I1511Vc.4531A>GSubstitution - Missense
CXCR4ENSG00000121966ENST00000409817p.S345Fc.1034C>TSubstitution - Missense
KIAA2018ENSG00000176542ENST00000316407p.Q1478_A1479insQQc.4418_4419insGCAGCAInsertion - In frame
ATP6V1AENSG00000114573ENST00000273398p.?c.212-1G>TUnknown
GRAMD1CENSG00000178075ENST00000358160p.?c.174+8C>TUnknown
GOLGB1ENSG00000173230ENST00000340645p.H2246Pc.6737A>CSubstitution - Missense
NM_003866.1p.?c.255+9C>TUnknown
TFDP2ENSG00000114126ENST00000489671p.R256*c.766C>TSubstitution - Nonsense
ARMC8ENSG00000114098ENST00000481646p.A455Tc.1363G>ASubstitution - Missense
CC2D2AENSG00000048342ENST00000389652p.?c.1003-4G>AUnknown
NM_001009555.2p.P98Lc.293C>TSubstitution - Missense
LRBAENSG00000198589ENST00000357115p.V1783Fc.5347G>TSubstitution - Missense
SORBS2ENSG00000154556ENST00000418609p.N231Kc.693C>ASubstitution - Missense
ZFYVE28ENSG00000159733ENST00000290974p.P316Ac.946C>GSubstitution - Missense
TRIP13ENSG00000071539ENST00000166345p.?c.760-10C>GUnknown
GPR98ENSG00000164199ENST00000405460p.T3797Ic.11390C>TSubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.I4666Vc.13996A>GSubstitution - Missense
THBS4ENSG00000113296ENST00000350881p.I538_F539delIFc.1611_1616delTATCTTDeletion - In frame
SHROOM2ENSG00000146950ENST00000380913p.T168Ic.503C>TSubstitution - Missense
PCDH11XENSG00000102290ENST00000504220p.L57*c.170T>ASubstitution - Nonsense
ENST00000217537p.N866Ic.2597A>TSubstitution - Missense
ZNF407ENSG00000215421ENST00000577538p.*1816Wc.5448A>GNonstop extension
LAMA1ENSG00000101680ENST00000389658p.E2606Kc.7816G>ASubstitution - Missense
CDH7ENSG00000081138ENST00000323011p.P167Pc.501C>TSubstitution - coding silent
APOL3ENSG00000128284ENST00000397293p.V286Ec.857T>ASubstitution - Missense
ENST00000317726p.T320Pc.958A>CSubstitution - Missense
CACNA1IENSG00000100346ENST00000402142p.C1652Cc.4956C>TSubstitution - coding silent
CACNA1IENSG00000100346ENST00000404898p.C1617Cc.4851C>TSubstitution - coding silent
PDGFBENSG00000100311ENST00000331163p.R216Lc.647G>TSubstitution - Missense
PDGFBENSG00000100311ENST00000331163p.R216Lc.647G>TSubstitution - Missense
PDGFBENSG00000100311ENST00000381551p.R201Lc.602G>TSubstitution - Missense
TRIOBPENSG00000100106ENST00000406386p.S1075Sc.3225G>ASubstitution - coding silent
GRIK2ENSG00000164418ENST00000369138p.P545Pc.1635C>GSubstitution - coding silent
GRIK2ENSG00000164418ENST00000318991p.P545Pc.1635C>GSubstitution - coding silent
EP300ENSG00000100393ENST00000263253p.?c.4453-15_4459del22Unknown
RANGAP1ENSG00000100401ENST00000356244p.L182Mc.544C>ASubstitution - Missense
ENST00000312310p.Q32Qc.96G>ASubstitution - coding silent
ENST00000368626p.S184fs*14c.549_550delTTDeletion - Frameshift
DSTENSG00000151914ENST00000370765p.R370Qc.1109G>ASubstitution - Missense
DSTENSG00000151914ENST00000370769p.R696Qc.2087G>ASubstitution - Missense
DSTENSG00000151914ENST00000370765p.A1944Vc.5831C>TSubstitution - Missense
PKHD1L1ENSG00000205038ENST00000378402p.P4098Lc.12293C>TSubstitution - Missense
MTBPENSG00000172167ENST00000305949p.E12Kc.34G>ASubstitution - Missense
NOVENSG00000136999ENST00000259526p.M222Ic.666G>ASubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.L1757Lc.5271G>ASubstitution - coding silent
SYNCRIPENSG00000135316ENST00000355238p.Q562Kc.1684C>ASubstitution - Missense
RANBP9ENSG00000010017ENST00000011619p.R674Rc.2022A>GSubstitution - coding silent
ANKRD6ENSG00000135299ENST00000339746p.?c.715-2A>CUnknown
STON1-GTF2A1LENSG00000068781ENST00000394754p.L729Lc.2187A>TSubstitution - coding silent
SOCS5ENSG00000171150ENST00000306503p.M191Vc.571A>GSubstitution - Missense
PLEKHH2ENSG00000152527ENST00000282406p.Q170Rc.509A>GSubstitution - Missense
PLEKHH2ENSG00000152527ENST00000282406p.S582Fc.1745C>TSubstitution - Missense
EML4ENSG00000143924ENST00000318522p.R303Qc.908G>ASubstitution - Missense
DNAJC7ENSG00000168259ENST00000457167p.L82Vc.244C>GSubstitution - Missense
NM_003315.1p.L72Vc.214C>GSubstitution - Missense
METTL3ENSG00000165819ENST00000377543p.V536Vc.1608G>ASubstitution - coding silent
KRT9ENSG00000171403ENST00000246662p.R338Sc.1014A>TSubstitution - Missense
SLC4A1ENSG00000004939ENST00000262418p.R146Qc.437G>ASubstitution - Missense
RPL27ENSG00000131469ENST00000253788p.?c.80_82-3del1101Unknown
WNK4ENSG00000126562ENST00000246914p.P819Lc.2456C>TSubstitution - Missense
WNK4ENSG00000126562ENST00000246914p.P819Lc.2456C>TSubstitution - Missense
ANKFN1ENSG00000153930ENST00000318698p.R32Sc.96G>CSubstitution - Missense
TOM1L1ENSG00000141198ENST00000575882p.M224Tc.671T>CSubstitution - Missense
CACNA1GENSG00000006283ENST00000354983p.F369Vc.1105T>GSubstitution - Missense
CACNA1GENSG00000006283ENST00000416767p.F369Vc.1105T>GSubstitution - Missense
TPRA1ENSG00000163870ENST00000355552p.G136Gc.408C>TSubstitution - coding silent
PLXNA1ENSG00000114554ENST00000393409p.?c.3277-4C>TUnknown
FAM19A5ENSG00000219438ENST00000402357p.P83Pc.249C>TSubstitution - coding silent
CELSR1ENSG00000075275ENST00000262738p.P2079Tc.6235C>ASubstitution - Missense
SAMM50ENSG00000100347ENST00000350028p.?c.850-6C>GUnknown
TUBGCP6ENSG00000128159ENST00000248846p.Q180Kc.538C>ASubstitution - Missense
TNPO1ENSG00000083312ENST00000506351p.?c.2120-10T>AUnknown
FCHO2ENSG00000157107ENST00000430046p.?c.1692-7G>AUnknown
FCHO2ENSG00000157107ENST00000430046p.?c.1692-7G>AUnknown
MAP1BENSG00000131711ENST00000296755p.I1391Vc.4171A>GSubstitution - Missense
CCDC125ENSG00000183323ENST00000396496p.Q340Ec.1018C>GSubstitution - Missense
C6orf222ENSG00000189325ENST00000437635p.A442Ac.1326G>ASubstitution - coding silent
CMYA5ENSG00000164309ENST00000446378p.?c.11261-2A>GUnknown
ADCY2ENSG00000078295ENST00000537121p.S524Sc.1572A>GSubstitution - coding silent
IQGAP2ENSG00000145703ENST00000274364p.A1230Tc.3688G>ASubstitution - Missense
IQGAP2ENSG00000145703ENST00000274364p.A456Sc.1366G>TSubstitution - Missense
TRERF1ENSG00000124496ENST00000372922p.?c.2337-1G>CUnknown
DNAH8ENSG00000124721ENST00000359357p.?c.10139+2T>CUnknown
NM_001371.1p.Q1694fs*20c.5078_5079delCADeletion - Frameshift
NM_001371.1p.K2281fs*11c.6841delADeletion - Frameshift
DNAH8ENSG00000124721ENST00000373278p.P104Pc.312G>CSubstitution - coding silent
MUC17ENSG00000169876ENST00000306151p.L1171Lc.3513G>ASubstitution - coding silent
ABHD11ENSG00000106077ENST00000222800p.L263Lc.789C>TSubstitution - coding silent
C1GALT1ENSG00000106392ENST00000223122p.N251Dc.751A>GSubstitution - Missense
POM121ENSG00000196313ENST00000257622p.S676Gc.2026A>GSubstitution - Missense
CCZ1BENSG00000146574ENST00000316731p.S136Tc.406T>ASubstitution - Missense
SNAPC3ENSG00000164975ENST00000380821p.T125Ic.374C>TSubstitution - Missense
CACNA1BENSG00000148408ENST00000371372p.R192Rc.576G>ASubstitution - coding silent
FOXR2ENSG00000189299ENST00000339140p.Q115*c.343C>TSubstitution - Nonsense
WNK3ENSG00000196632ENST00000354646p.R916Wc.2746C>TSubstitution - Missense
IFNA16ENSG00000147885ENST00000380216p.K17fs*22c.51delADeletion - Frameshift
NAP1L2ENSG00000186462ENST00000373517p.P279Sc.835C>TSubstitution - Missense
ZMYM3ENSG00000147130ENST00000314425p.G301Rc.901G>ASubstitution - Missense
ARENSG00000169083ENST00000374690p.P392Sc.1174C>TSubstitution - Missense
ENST00000544984p.P202Sc.604C>TSubstitution - Missense
NM_138737.1p.L777Lc.2331G>CSubstitution - coding silent
APOOLENSG00000155008ENST00000373173p.A145Vc.434C>TSubstitution - Missense
MAGEE1ENSG00000198934ENST00000361470p.R513Qc.1538G>ASubstitution - Missense
NCANENSG00000130287ENST00000252575p.G535Vc.1604G>TSubstitution - Missense
NCANENSG00000130287ENST00000252575p.G535Vc.1604G>TSubstitution - Missense
KIAA1683ENSG00000130518ENST00000392413p.L59Hc.176T>ASubstitution - Missense
ARRDC2ENSG00000105643ENST00000222250p.L243Lc.729C>TSubstitution - coding silent
VASPENSG00000125753ENST00000245932p.R155Qc.464G>ASubstitution - Missense
EML2ENSG00000125746ENST00000245925p.A207Sc.619G>TSubstitution - Missense
MARK4ENSG00000007047ENST00000300843p.D282Nc.844G>ASubstitution - Missense
MARK4ENSG00000007047ENST00000300843p.A389Ac.1167G>ASubstitution - coding silent
PPP1R15AENSG00000087074ENST00000200453p.G129Rc.385G>ASubstitution - Missense
SPHK2ENSG00000063176ENST00000443164p.P692Pc.2076G>TSubstitution - coding silent
DBPENSG00000105516ENST00000222122p.?c.551-4C>TUnknown
CA11ENSG00000063180ENST00000084798p.?c.795+6C>TUnknown
RPL18ENSG00000063177ENST00000549920p.G117Gc.351G>ASubstitution - coding silent
SULT2A1ENSG00000105398ENST00000222002p.L245Fc.733C>TSubstitution - Missense
PLA2G4CENSG00000105499ENST00000413144p.C351Cc.1053C>TSubstitution - coding silent
NPAS1ENSG00000130751ENST00000449844p.?c.523-9C>TUnknown
INO80EENSG00000169592ENST00000563197p.P91Lc.272C>TSubstitution - Missense
GYS1ENSG00000104812ENST00000323798p.?c.1063-1G>AUnknown
ZRANB3ENSG00000121988ENST00000264159p.K753Tc.2258A>CSubstitution - Missense
NM_032143.1p.K216Tc.647A>CSubstitution - Missense
NCKAP5ENSG00000176771ENST00000409261p.R935Kc.2804G>ASubstitution - Missense
ENST00000331219p.E110Ec.330G>ASubstitution - coding silent
SRCAPENSG00000080603ENST00000262518p.S1624Sc.4872A>GSubstitution - coding silent
PHLDB2ENSG00000144824ENST00000431670p.E668Dc.2004G>CSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.C3578Yc.10733G>ASubstitution - Missense
THSD7BENSG00000144229ENST00000413152p.H678Hc.2034C>TSubstitution - coding silent
ACVR2BENSG00000114739ENST00000352511p.R468Hc.1403G>ASubstitution - Missense
CMBLENSG00000164237ENST00000296658p.H139Pc.416A>CSubstitution - Missense
TSSK1BENSG00000212122ENST00000390666p.S213Fc.638C>TSubstitution - Missense
TMEM232ENSG00000186952ENST00000455884p.D151Vc.452A>TSubstitution - Missense
TMEM232ENSG00000186952ENST00000429839p.D151Vc.452A>TSubstitution - Missense
PCYOX1ENSG00000116005ENST00000433351p.D374Nc.1120G>ASubstitution - Missense
CDH3ENSG00000062038ENST00000264012p.T531Tc.1593G>ASubstitution - coding silent
FAM65AENSG00000039523ENST00000379312p.E952Ec.2856G>ASubstitution - coding silent
FAM65AENSG00000039523ENST00000042381p.E948Ec.2844G>ASubstitution - coding silent
ACTG2ENSG00000163017ENST00000345517p.D312Nc.934G>ASubstitution - Missense
ALMS1ENSG00000116127ENST00000264448p.L1547Pc.4640T>CSubstitution - Missense
DYSFENSG00000135636ENST00000258104p.?c.3174+7C>TUnknown
ZNF638ENSG00000075292ENST00000264447p.P275Pc.825C>TSubstitution - coding silent
ENST00000544512p.P381Pc.1143C>TSubstitution - coding silent
NAGKENSG00000124357ENST00000244204p.G151Gc.453T>GSubstitution - coding silent
ENST00000544512p.P94Lc.281C>TSubstitution - Missense
CNTN6ENSG00000134115ENST00000446702p.N957Hc.2869A>CSubstitution - Missense
LRRTM1ENSG00000162951ENST00000295057p.S390Sc.1170G>CSubstitution - coding silent
LRRTM4ENSG00000176204ENST00000409093p.R567Lc.1700G>TSubstitution - Missense
MED12LENSG00000144893ENST00000474524p.?c.3223-3A>TUnknown
SIAH2ENSG00000181788ENST00000312960p.G269Gc.807G>ASubstitution - coding silent
EGFENSG00000138798ENST00000265171p.Y570Yc.1710T>CSubstitution - coding silent
TBC1D9BENSG00000197226ENST00000356834p.E611Dc.1833G>TSubstitution - Missense
NHSL1ENSG00000135540ENST00000342260p.D1388Ec.4164T>GSubstitution - Missense
TNFAIP3ENSG00000118503ENST00000237289p.R280Wc.838C>TSubstitution - Missense
PDZD2ENSG00000133401ENST00000282493p.A1680Ac.5040G>ASubstitution - coding silent
GRM1ENSG00000152822ENST00000392299p.K66Nc.198G>TSubstitution - Missense
HIVEP2ENSG00000010818ENST00000012134p.Q1157Pc.3470A>CSubstitution - Missense
RGS17ENSG00000091844ENST00000367225p.R161Tc.482G>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.?c.2882-5T>CUnknown
HOXA4ENSG00000197576ENST00000360046p.I201Ic.603C>ASubstitution - coding silent
BRAT1ENSG00000106009ENST00000340611p.L708Lc.2124G>ASubstitution - coding silent
IQCEENSG00000106012ENST00000402050p.Q237Qc.711G>ASubstitution - coding silent
LFNGENSG00000106003ENST00000222725p.P247Pc.741T>CSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.S4950Gc.14848A>GSubstitution - Missense
SMSENSG00000102172ENST00000404933p.D87Yc.259G>TSubstitution - Missense
SH3KBP1ENSG00000147010ENST00000397821p.G443Sc.1327G>ASubstitution - Missense
SH3KBP1ENSG00000147010ENST00000379698p.G406Sc.1216G>ASubstitution - Missense
MAGEB17ENSG00000182798ENST00000400004p.R9Rc.27C>TSubstitution - coding silent
MAGEB17ENSG00000182798ENST00000329538p.R9Rc.27C>TSubstitution - coding silent
F8ENSG00000185010ENST00000360256p.V181Mc.541G>ASubstitution - Missense
ZNF142ENSG00000115568ENST00000411696p.?c.4488+10G>CUnknown
ENST00000396788p.?c.3999+10G>CUnknown
VIL1ENSG00000127831ENST00000248444p.K237Rc.710A>GSubstitution - Missense
GLI2ENSG00000074047ENST00000361492p.D615Yc.1843G>TSubstitution - Missense
TMEM37ENSG00000171227ENST00000306406p.S24Yc.71C>ASubstitution - Missense
ENSG00000163075ENST00000295220p.P266Tc.796C>ASubstitution - Missense
ACSL3ENSG00000123983ENST00000357430p.R702Hc.2105G>ASubstitution - Missense
GMPPAENSG00000144591ENST00000341142p.C181Cc.543C>TSubstitution - coding silent
TTLL4ENSG00000135912ENST00000392102p.Y123Hc.367T>CSubstitution - Missense
NCLENSG00000115053ENST00000322723p.G115Dc.344G>ASubstitution - Missense
SPHKAPENSG00000153820ENST00000392056p.P998Lc.2993C>TSubstitution - Missense
XM_051221.5p.P998Lc.2993C>TSubstitution - Missense
IRS1ENSG00000169047ENST00000305123p.L206Lc.618G>ASubstitution - coding silent
NGEFENSG00000066248ENST00000264051p.?c.269-7G>TUnknown
ATG16L1ENSG00000085978ENST00000392017p.Q170Lc.509A>TSubstitution - Missense
GIGYF2ENSG00000204120ENST00000409451p.Q1237_P1238insQc.3696_3697insCAGInsertion - In frame
GIGYF2ENSG00000204120ENST00000373563p.Q1216_P1217insQc.3633_3634insCAGInsertion - In frame
LRRFIP1ENSG00000124831ENST00000392000p.K137Qc.409A>CSubstitution - Missense
LRRFIP1ENSG00000124831ENST00000308482p.K265Qc.793A>CSubstitution - Missense
KALRNENSG00000160145ENST00000360013p.D1266Dc.3798C>TSubstitution - coding silent
PIK3R4ENSG00000196455ENST00000356763p.N122Nc.366C>TSubstitution - coding silent
IFT122ENSG00000163913ENST00000296266p.H758Lc.2273A>TSubstitution - Missense
RPN1ENSG00000163902ENST00000296255p.R494Hc.1481G>ASubstitution - Missense
ENST00000356127p.K11432Ic.34295A>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.K5127Ic.15380A>TSubstitution - Missense
NM_003319p.K4935Ic.14804A>TSubstitution - Missense
ALS2CR12ENSG00000155749ENST00000286190p.Q443*c.1327C>TSubstitution - Nonsense
MYT1LENSG00000186487ENST00000399161p.E161Ec.483G>ASubstitution - coding silent
UBXN2AENSG00000173960ENST00000309033p.?c.584+1G>CUnknown
ATG4BENSG00000168397ENST00000404914p.E312Kc.934G>ASubstitution - Missense
BBXENSG00000114439ENST00000415149p.L890Lc.2670C>TSubstitution - coding silent
EMC3ENSG00000125037ENST00000245046p.Q53*c.157C>TSubstitution - Nonsense
ENST00000356559p.N84Yc.250A>TSubstitution - Missense
ABATENSG00000183044ENST00000396600p.M198Vc.592A>GSubstitution - Missense
PTPRSENSG00000105426ENST00000357368p.R1241Cc.3721C>TSubstitution - Missense
MYH4ENSG00000264424ENST00000255381p.A1105Pc.3313G>CSubstitution - Missense
MYH8ENSG00000133020ENST00000403437p.I54Tc.161T>CSubstitution - Missense
CNOT3ENSG00000088038ENST00000221232p.?c.2164-9delcUnknown
ZNF347ENSG00000197937ENST00000334197p.L179Pc.536T>CSubstitution - Missense
ZNF160ENSG00000170949ENST00000429604p.R297Hc.890G>ASubstitution - Missense
ZNF534ENSG00000198633ENST00000332323p.T642Ac.1924A>GSubstitution - Missense
CABLES2ENSG00000149679ENST00000279101p.S373Sc.1119G>ASubstitution - coding silent
OSBPL2ENSG00000130703ENST00000313733p.?c.492-7G>AUnknown
OSBPL2ENSG00000130703ENST00000439951p.R356Gc.1066C>GSubstitution - Missense
ANGPT4ENSG00000101280ENST00000381922p.T428Ic.1283C>TSubstitution - Missense
PCMTD2ENSG00000203880ENST00000308824p.V264Lc.790G>TSubstitution - Missense
SEC14L6ENSG00000214491ENST00000402034p.?c.581-3C>TUnknown
SEC14L6ENSG00000214491ENST00000402034p.?c.581-3C>TUnknown
AP1B1ENSG00000100280ENST00000357586p.Y361Yc.1083C>TSubstitution - coding silent
KREMEN1ENSG00000183762ENST00000327813p.P332Hc.995C>ASubstitution - Missense
CHEK2ENSG00000183765ENST00000328354p.?c.909-8T>CUnknown
SUPT7LENSG00000119760ENST00000337768p.K142Kc.426A>GSubstitution - coding silent
IFT172ENSG00000138002ENST00000260570p.F681fs*18c.2043_2044delTTDeletion - Frameshift
GCKRENSG00000084734ENST00000264717p.?c.217-8C>TUnknown
YIPF4ENSG00000119820ENST00000238831p.P229Pc.687A>GSubstitution - coding silent
XDHENSG00000158125ENST00000379416p.N182Sc.545A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.L1985Vc.5953C>GSubstitution - Missense
ENST00000405167p.L2226Hc.6677T>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.G2421Sc.7261G>ASubstitution - Missense
ENST00000405167p.G2421Sc.7261G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T2683Sc.8047A>TSubstitution - Missense
ENST00000405167p.T2683Sc.8047A>TSubstitution - Missense
ENST00000405167p.L3329Lc.9987T>GSubstitution - coding silent
ENST00000405167p.P3520Lc.10559C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S3511Fc.10532C>TSubstitution - Missense
ENST00000405167p.S3511Fc.10532C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P3520Lc.10559C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T1854Ac.5560A>GSubstitution - Missense
ENST00000405167p.L1873Vc.5617C>GSubstitution - Missense
GAKENSG00000178950ENST00000314167p.S1154Cc.3460A>TSubstitution - Missense
FAM13AENSG00000138640ENST00000508369p.P272Pc.816G>TSubstitution - coding silent
CEBPDENSG00000221869ENST00000408965p.E225Vc.674A>TSubstitution - Missense
ADAM18ENSG00000168619ENST00000265707p.T628Ic.1883C>TSubstitution - Missense
IDO1ENSG00000131203ENST00000522495p.P182Sc.544C>TSubstitution - Missense
TACC1ENSG00000147526ENST00000317827p.A211Tc.631G>ASubstitution - Missense
FGFR1ENSG00000077782ENST00000335922p.Y603Yc.1809T>CSubstitution - coding silent
FGFR1ENSG00000077782ENST00000447712p.Y613Yc.1839T>CSubstitution - coding silent
XM_098980.6p.G589Gc.1767A>GSubstitution - coding silent
CXorf22ENSG00000165164ENST00000297866p.T89Tc.267C>TSubstitution - coding silent
NLRP5ENSG00000171487ENST00000390649p.V316Ic.946G>ASubstitution - Missense
NLRP8ENSG00000179709ENST00000291971p.L872Lc.2616G>ASubstitution - coding silent
C19orf18ENSG00000177025ENST00000314391p.N81Nc.243C>TSubstitution - coding silent
ZNF671ENSG00000083814ENST00000317398p.C232Wc.696C>GSubstitution - Missense
NUP85ENSG00000125450ENST00000245544p.K41Ec.121A>GSubstitution - Missense
TMEM104ENSG00000109066ENST00000335464p.V398Ic.1192G>ASubstitution - Missense
BCL6BENSG00000161940ENST00000293805p.E85Kc.253G>ASubstitution - Missense
RNF149ENSG00000163162ENST00000295317p.F97Fc.291C>TSubstitution - coding silent
ENST00000424749_v68p.?c.560+1G>CUnknown
GPR179ENSG00000188888ENST00000342292p.A2090Ac.6270C>TSubstitution - coding silent
ENSG00000174093ENST00000312412p.?c.419-4A>GUnknown
XM_375443.1p.A31Vc.92C>TSubstitution - Missense
SLC12A3ENSG00000070915ENST00000438926p.?c.2661-9G>AUnknown
KRT27ENSG00000171446ENST00000301656p.R103*c.307C>TSubstitution - Nonsense
ATP2A3ENSG00000074370ENST00000352011p.?c.1185-5C>TUnknown
BACH1ENSG00000156273ENST00000399921p.D31Gc.92A>GSubstitution - Missense
TMPRSS15ENSG00000154646ENST00000284885p.H428Hc.1284T>CSubstitution - coding silent
KRT38ENSG00000171360ENST00000246646p.R377Lc.1130G>TSubstitution - Missense
ERGENSG00000157554ENST00000417133p.N366Kc.1098C>ASubstitution - Missense
DOPEY2ENSG00000142197ENST00000399151p.R1744Kc.5231G>ASubstitution - Missense
TIAM1ENSG00000156299ENST00000286827p.E632Kc.1894G>ASubstitution - Missense
LIMCH1ENSG00000064042ENST00000313860p.V666Vc.1998G>ASubstitution - coding silent
LIMCH1ENSG00000064042ENST00000512820p.V654Vc.1962G>ASubstitution - coding silent
WDR19ENSG00000157796ENST00000399820p.?c.1982+6C>TUnknown
RFC1ENSG00000035928ENST00000381897p.R388Rc.1164A>CSubstitution - coding silent
DTHD1ENSG00000197057ENST00000456874p.?c.1965+3G>TUnknown
PCBP4ENSG00000090097ENST00000461554p.?c.106-10C>TUnknown
RRP9ENSG00000114767ENST00000232888p.R456Pc.1367G>CSubstitution - Missense
GNAI2ENSG00000114353ENST00000313601p.V119Mc.355G>ASubstitution - Missense
TBPENSG00000112592ENST00000230354p.T147Tc.441C>TSubstitution - coding silent
NUP205ENSG00000155561ENST00000285968p.K1219Rc.3656A>GSubstitution - Missense
BTN2A2ENSG00000124508ENST00000356709p.L204Rc.611T>GSubstitution - Missense
SLC17A1ENSG00000124568ENST00000244527p.F113Ic.337T>ASubstitution - Missense
TBXAS1ENSG00000059377ENST00000416849p.H491Rc.1472A>GSubstitution - Missense
TBXAS1ENSG00000059377ENST00000263552p.H445Rc.1334A>GSubstitution - Missense
UBN2ENSG00000157741ENST00000288561p.K209delKc.620_622delAGADeletion - In frame
LRRD1ENSG00000240720ENST00000458448p.E229Kc.685G>ASubstitution - Missense
ANKIB1ENSG00000001629ENST00000265742p.A733Ac.2199T>ASubstitution - coding silent
AKAP9ENSG00000127914ENST00000356239p.I2804Tc.8411T>CSubstitution - Missense
NM_147171.1p.I2816Tc.8447T>CSubstitution - Missense
NM_147171.1p.M1891Tc.5672T>CSubstitution - Missense
MGAMENSG00000257335ENST00000475668p.R1679fs*46c.5034delTDeletion - Frameshift
OCM2ENSG00000135175ENST00000257627p.T33Tc.99G>TSubstitution - coding silent
PEG10ENSG00000242265ENST00000482108p.T271Tc.813C>TSubstitution - coding silent
EPPK1ENSG00000227184ENST00000525985p.E2212Kc.6634G>ASubstitution - Missense
GSDMDENSG00000104518ENST00000262580p.A244Tc.730G>ASubstitution - Missense
RHPN1ENSG00000158106ENST00000289013p.D232Ac.695A>CSubstitution - Missense
RHPN1ENSG00000158106ENST00000289013p.D232Ac.695A>CSubstitution - Missense
ZNF696ENSG00000185730ENST00000330143p.G240Dc.719G>ASubstitution - Missense
LYNX1ENSG00000180155ENST00000398906p.L15Fc.45A>CSubstitution - Missense
ATP5J2ENSG00000241468ENST00000292475p.?c.139+3_141del822Unknown
SHARPINENSG00000179526ENST00000398712p.A232Tc.694G>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.K1571*c.4711A>TSubstitution - Nonsense
MBD2ENSG00000134046ENST00000583046p.L197Lc.591G>ASubstitution - coding silent
SPDYE4ENSG00000183318ENST00000328794p.M91Kc.272T>ASubstitution - Missense
ARHGEF15ENSG00000198844ENST00000361926p.E232Vc.695A>TSubstitution - Missense
EPB41L3ENSG00000082397ENST00000341928p.E68Qc.202G>CSubstitution - Missense
FASTKD5ENSG00000215251ENST00000380266p.L517Lc.1551C>TSubstitution - coding silent
FRG1BENSG00000149531ENST00000278882p.E180Kc.538G>ASubstitution - Missense
ENST00000278882_v61p.E180Kc.538G>ASubstitution - Missense
SUV420H2ENSG00000133247ENST00000255613p.G105Gc.315C>TSubstitution - coding silent
TRMT2AENSG00000099899ENST00000252136p.?c.1433-1G>AUnknown
SEPT5ENSG00000184702ENST00000455784p.T126Tc.378C>GSubstitution - coding silent
NM_003319p.?c.60512-3T>CUnknown
TTNENSG00000155657ENST00000342992p.L26471Qc.79412T>ASubstitution - Missense
ENST00000356127p.L26469Qc.79406T>ASubstitution - Missense
NM_003319p.L19974Qc.59921T>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.R19649Sc.58947G>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.R19716Sc.59148G>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.?c.60887-3T>CUnknown
ENST00000356127p.?c.79997-3T>CUnknown
TTNENSG00000155657ENST00000342175p.?c.61088-3T>CUnknown
RNF114ENSG00000124226ENST00000244061p.R138Hc.413G>ASubstitution - Missense
ZNFX1ENSG00000124201ENST00000371752p.R745Qc.2234G>ASubstitution - Missense
PHACTR3ENSG00000087495ENST00000371015p.T282Pc.844A>CSubstitution - Missense
SPO11ENSG00000054796ENST00000371263p.S174Lc.521C>TSubstitution - Missense
FLNCENSG00000128591ENST00000325888p.T1664Mc.4991C>TSubstitution - Missense
TESK1ENSG00000107140ENST00000336395p.Y260Yc.780C>TSubstitution - coding silent
KIAA1045ENSG00000122733ENST00000242315p.R260Rc.780A>GSubstitution - coding silent
CNTFRENSG00000122756ENST00000351266p.A15Ac.45C>TSubstitution - coding silent
APTXENSG00000137074ENST00000379813p.H220Hc.660C>TSubstitution - coding silent
APTXENSG00000137074ENST00000309615p.H234Hc.702C>TSubstitution - coding silent
DOCK8ENSG00000107099ENST00000432829p.A1594Sc.4780G>TSubstitution - Missense
GLIS3ENSG00000107249ENST00000381971p.R918Hc.2753G>ASubstitution - Missense
GLIS3ENSG00000107249ENST00000324333p.R763Hc.2288G>ASubstitution - Missense
KBTBD8ENSG00000163376ENST00000417314p.L527Lc.1579C>TSubstitution - coding silent
FAM107AENSG00000168309ENST00000464064p.P26Sc.76C>TSubstitution - Missense
IL17RDENSG00000144730ENST00000296318p.P635Pc.1905T>ASubstitution - coding silent
DOCK5ENSG00000147459ENST00000276440p.R1844Qc.5531G>ASubstitution - Missense
NEFMENSG00000104722ENST00000221166p.V883Ac.2648T>CSubstitution - Missense
ADAM28ENSG00000042980ENST00000265769p.S120Gc.358A>GSubstitution - Missense
HRENSG00000168453ENST00000381418p.E318Dc.954G>TSubstitution - Missense
TMF1ENSG00000144747ENST00000398559p.H138Dc.412C>GSubstitution - Missense
MBOAT4ENSG00000177669ENST00000320542p.L187Lc.561G>ASubstitution - coding silent
ELP3ENSG00000134014ENST00000256398p.G278Ac.833G>CSubstitution - Missense
STMN4ENSG00000015592ENST00000350889p.K197*c.589A>TSubstitution - Nonsense
ERN1ENSG00000178607ENST00000433197p.E377Ec.1131G>ASubstitution - coding silent
ERN1ENSG00000178607ENST00000433197p.E377Ec.1131G>ASubstitution - coding silent
KCNH6ENSG00000173826ENST00000583023p.?c.308-5C>GUnknown
TANC2ENSG00000170921ENST00000389520p.A1337Ac.4011T>ASubstitution - coding silent
ENST00000389520_v65p.A1337Ac.4011T>ASubstitution - coding silent
DPH1ENSG00000108963ENST00000263084p.G205Sc.613G>ASubstitution - Missense
ALDH3A2ENSG00000072210ENST00000581518p.F351Fc.1053C>TSubstitution - coding silent
EPN2ENSG00000072134ENST00000314728p.F447Fc.1341C>TSubstitution - coding silent
BPTFENSG00000171634ENST00000306378p.N1187Nc.3561T>CSubstitution - coding silent
CACNG5ENSG00000075429ENST00000169565p.R124Hc.371G>ASubstitution - Missense
CACNG5ENSG00000075429ENST00000533854p.R124Hc.371G>ASubstitution - Missense
XM_043272.9p.K295Kc.885G>ASubstitution - coding silent
EFCAB5ENSG00000176927ENST00000394835p.G1247Gc.3741A>GSubstitution - coding silent
MYO18AENSG00000196535ENST00000527372p.V627Lc.1879G>CSubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.V627Lc.1879G>CSubstitution - Missense
C17orf97ENSG00000187624ENST00000360127p.P259Pc.777C>TSubstitution - coding silent
ACTG1ENSG00000184009ENST00000331925p.S365Sc.1095G>ASubstitution - coding silent
ENST00000436173p.P1026Pc.3078C>TSubstitution - coding silent
RNF213ENSG00000173821ENST00000319921p.?c.1112+9G>AUnknown
NDC80ENSG00000080986ENST00000261597p.L317Lc.949T>CSubstitution - coding silent
PER1ENSG00000179094ENST00000317276p.M1152Vc.3454A>GSubstitution - Missense
ENST00000445854p.?c.1374+9G>AUnknown
ZNF791ENSG00000173875ENST00000343325p.A280Ac.840A>GSubstitution - coding silent
ZNF878ENSG00000257446ENST00000602107p.R402Qc.1205G>ASubstitution - Missense
LCA5LENSG00000157578ENST00000380671p.A546Ac.1638C>TSubstitution - coding silent
ENST00000360228_v70p.M129Ic.387G>ASubstitution - Missense
ENST00000357018p.M129Ic.387G>ASubstitution - Missense
ANKRD36ENSG00000135976ENST00000420699p.?c.2042-4T>AUnknown
TMPRSS11DENSG00000153802ENST00000283916p.G400Vc.1199G>TSubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.G58Sc.172G>ASubstitution - Missense
AFPENSG00000081051ENST00000395792p.A430Ec.1289C>ASubstitution - Missense
AFPENSG00000081051ENST00000395792p.Q550Ec.1648C>GSubstitution - Missense
ALBENSG00000163631ENST00000295897p.?c.1786-3C>TUnknown
NPFFR2ENSG00000056291ENST00000308744p.E26Kc.76G>ASubstitution - Missense
ADAMTS3ENSG00000156140ENST00000286657p.?c.2260+9T>GUnknown
SLC4A4ENSG00000080493ENST00000340595p.E1009Kc.3025G>ASubstitution - Missense
ADCY7ENSG00000121281ENST00000394697p.R175Wc.523C>TSubstitution - Missense
PPLENSG00000118898ENST00000345988p.F154Fc.462T>CSubstitution - coding silent
ABCC12ENSG00000140798ENST00000311303p.R122Rc.366C>TSubstitution - coding silent
FAM47EENSG00000189157ENST00000424749p.?c.560+1G>CUnknown
SPATA13ENSG00000182957ENST00000382095p.R271Cc.811C>TSubstitution - Missense
NM_014363.3p.S1840Fc.5519C>TSubstitution - Missense
RAI14ENSG00000039560ENST00000265109p.S45Ic.134G>TSubstitution - Missense
RPAP1ENSG00000103932ENST00000304330p.T739Tc.2217C>TSubstitution - coding silent
EXD1ENSG00000178997ENST00000314992p.P58fs*6c.173delCDeletion - Frameshift
OIP5ENSG00000104147ENST00000220514p.H152Dc.454C>GSubstitution - Missense
AQRENSG00000021776ENST00000156471p.P494Lc.1481C>TSubstitution - Missense
OSMRENSG00000145623ENST00000274276p.R674*c.2020C>TSubstitution - Nonsense
C5orf42ENSG00000197603ENST00000425232p.A2281Vc.6842C>TSubstitution - Missense
UGT3A1ENSG00000145626ENST00000274278p.G382Dc.1145G>ASubstitution - Missense
SPEF2ENSG00000152582ENST00000356031p.V1727Vc.5181G>CSubstitution - coding silent
KARSENSG00000065427ENST00000319410p.E446Kc.1336G>ASubstitution - Missense
KARSENSG00000065427ENST00000302445p.E418Kc.1252G>ASubstitution - Missense
COPZ2ENSG00000005243ENST00000006101p.?c.579+4G>AUnknown
MUC16ENSG00000181143ENST00000397910p.P1755Pc.5265T>ASubstitution - coding silent
SIRPAENSG00000198053ENST00000400068p.G188Vc.563G>TSubstitution - Missense
ENST00000278816p.A86Gc.257C>GSubstitution - Missense
ISM1ENSG00000101230ENST00000262487p.D336Nc.1006G>ASubstitution - Missense
PSMF1ENSG00000125818ENST00000335877p.I222Tc.665T>CSubstitution - Missense
TMEM74BENSG00000125895ENST00000381894p.P110Pc.330A>GSubstitution - coding silent
RALGAPA2ENSG00000188559ENST00000202677p.R551Cc.1651C>TSubstitution - Missense
NAB1ENSG00000138386ENST00000409581p.Y15Cc.44A>GSubstitution - Missense
OSGEPL1ENSG00000128694ENST00000264151p.R354Sc.1062A>TSubstitution - Missense
APOBENSG00000084674ENST00000233242p.I608Ic.1824C>TSubstitution - coding silent
TRPC5ENSG00000072315ENST00000262839p.L738Ic.2212C>ASubstitution - Missense
RGAG1ENSG00000243978ENST00000465301p.A532Sc.1594G>TSubstitution - Missense
TRIM55ENSG00000147573ENST00000315962p.P373Qc.1118C>ASubstitution - Missense
BHLHE22ENSG00000180828ENST00000321870p.G97_V98insGc.290_291insCGGInsertion - In frame
MCPH1ENSG00000147316ENST00000344683p.R187Sc.561G>TSubstitution - Missense
TLR8ENSG00000101916ENST00000218032p.R128Rc.384G>ASubstitution - coding silent
RBMX2ENSG00000134597ENST00000305536p.E12Qc.34G>CSubstitution - Missense
ENST00000429478p.Q1528Qc.4584G>ASubstitution - coding silent
SLC25A5ENSG00000005022ENST00000317881p.?c.739+1_740-1del387Unknown
INSRENSG00000171105ENST00000302850p.G344Gc.1032C>TSubstitution - coding silent
INSRENSG00000171105ENST00000302850p.G344Gc.1032C>TSubstitution - coding silent
TNFSF14ENSG00000125735ENST00000245912p.L83Lc.249G>TSubstitution - coding silent
C3ENSG00000125730ENST00000245907p.S562Lc.1685C>TSubstitution - Missense
FBN3ENSG00000142449ENST00000270509p.D2663Ec.7989C>ASubstitution - Missense
ZNF169ENSG00000175787ENST00000395395p.G148Dc.443G>ASubstitution - Missense
WNK2ENSG00000165238ENST00000297954p.?c.6035-5C>TUnknown
SU_WNK2p.?c.5879-5C>TUnknown
MYO15AENSG00000091536ENST00000205890p.S48Fc.143C>TSubstitution - Missense
TNFRSF13BENSG00000240505ENST00000261652p.D191Nc.571G>ASubstitution - Missense
CCDC144AENSG00000170160ENST00000456009p.T863Tc.2589G>ASubstitution - coding silent
ADORA2BENSG00000170425ENST00000304222p.L310Lc.930C>ASubstitution - coding silent
ENST00000379640p.A56Dc.167C>ASubstitution - Missense
TNFSF12-TNFSF13ENSG00000248871ENST00000293826p.?c.373+6A>CUnknown
TNFSF12ENSG00000239697ENST00000293825p.?c.373+6A>CUnknown
CYGBENSG00000161544ENST00000293230p.P54Sc.160C>TSubstitution - Missense
UNC13DENSG00000092929ENST00000207549p.S153Ac.457T>GSubstitution - Missense
CYTH1ENSG00000108669ENST00000361101p.?c.170+7C>GUnknown
USP36ENSG00000055483ENST00000312010p.D906Dc.2718C>TSubstitution - coding silent
TMC6ENSG00000141524ENST00000322914p.?c.1083-6C>TUnknown
ZNF254ENSG00000213096ENST00000357002p.S7Ic.20G>TSubstitution - Missense
ZNF91ENSG00000167232ENST00000300619p.G626Ec.1877G>ASubstitution - Missense
TSKSENSG00000126467ENST00000246801p.L533Lc.1599G>ASubstitution - coding silent
CGB7ENSG00000196337ENST00000377280p.S14Ic.41G>TSubstitution - Missense
SHANK1ENSG00000161681ENST00000293441p.V733Vc.2199C>TSubstitution - coding silent
SHANK1ENSG00000161681ENST00000391813p.V120Vc.360C>TSubstitution - coding silent
MYBPC2ENSG00000086967ENST00000357701p.R1026Hc.3077G>ASubstitution - Missense
KIR2DL3ENSG00000243772ENST00000342376p.?c.665-10C>TUnknown
LILRB1ENSG00000104972ENST00000396331p.D103Nc.307G>ASubstitution - Missense
ENST00000344237p.L588Lc.1762C>TSubstitution - coding silent
EPB41L1ENSG00000088367ENST00000338074p.K876Rc.2627A>GSubstitution - Missense
TGM5ENSG00000104055ENST00000220420p.Q666Hc.1998G>TSubstitution - Missense
CDAN1ENSG00000140326ENST00000356231p.E1173Kc.3517G>ASubstitution - Missense
SPTBN5ENSG00000137877ENST00000320955p.R3040Qc.9119G>ASubstitution - Missense
NADKENSG00000008130ENST00000341991p.P93Pc.279C>TSubstitution - coding silent
MOB3CENSG00000142961ENST00000271139p.R4Ic.11G>TSubstitution - Missense
RAD54LENSG00000085999ENST00000442598p.S344Sc.1032C>TSubstitution - coding silent
NM_007170p.R469Cc.1405C>TSubstitution - Missense
SLC12A1ENSG00000074803ENST00000380993p.K56Ic.167A>TSubstitution - Missense
SEMA6DENSG00000137872ENST00000558014p.T777Mc.2330C>TSubstitution - Missense
BLOC1S6ENSG00000104164ENST00000220531p.E157Kc.469G>ASubstitution - Missense
CYFIP1ENSG00000068793ENST00000313077p.E662Ec.1986G>ASubstitution - coding silent
FLGENSG00000143631ENST00000368799p.S806Fc.2417C>TSubstitution - Missense
DNM1LENSG00000087470ENST00000553257p.?c.1395+5C>TUnknown
C1orf195ENSG00000204464ENST00000376005p.K40Rc.119A>GSubstitution - Missense
PLA2G2AENSG00000188257ENST00000400520p.A37Ac.111C>TSubstitution - coding silent
KDM5BENSG00000117139ENST00000367265p.K432Ec.1294A>GSubstitution - Missense
IPO9ENSG00000198700ENST00000361565p.T259Ac.775A>GSubstitution - Missense
RFX7ENSG00000181827ENST00000317318p.P468Pc.1404T>ASubstitution - coding silent
HDCENSG00000140287ENST00000267845p.L270Lc.810C>TSubstitution - coding silent
FAM227BENSG00000166262ENST00000299338p.P426Tc.1276C>ASubstitution - Missense
PIDDENSG00000177595ENST00000347755p.L132Vc.394C>GSubstitution - Missense
ENST00000331871p.S29Yc.86C>ASubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.K2517Ec.7549A>GSubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.L2030Lc.6090G>ASubstitution - coding silent
TRIM49CENSG00000204449ENST00000448984p.G348Gc.1044G>TSubstitution - coding silent
TRIM49CENSG00000204449ENST00000432771p.N427Dc.1279A>GSubstitution - Missense
TMEM9BENSG00000175348ENST00000534025p.D157Dc.471T>CSubstitution - coding silent
DNAH10ENSG00000197653ENST00000409039p.R710Rc.2130C>TSubstitution - coding silent
ABCB9ENSG00000150967ENST00000392439p.R2Qc.5G>ASubstitution - Missense
HCAR3ENSG00000255398ENST00000528880p.L6Lc.18G>ASubstitution - coding silent
HCAR3ENSG00000255398ENST00000528880p.L6Lc.18G>ASubstitution - coding silent
LRRC38ENSG00000162494ENST00000376085p.V83Ic.247G>ASubstitution - Missense
EP400ENSG00000183495ENST00000389561p.P287Pc.861G>ASubstitution - coding silent
ENST00000360901p.F249Lc.747T>ASubstitution - Missense
OR14K1ENSG00000153230ENST00000283225p.D119Nc.355G>ASubstitution - Missense
FCN3ENSG00000142748ENST00000270879p.N264Sc.791A>GSubstitution - Missense
LRRC7ENSG00000033122ENST00000035383p.S926Sc.2778C>TSubstitution - coding silent
LPHN2ENSG00000117114ENST00000370715p.L1163Ic.3487C>ASubstitution - Missense
DLGAP5ENSG00000126787ENST00000247191p.T799Ac.2395A>GSubstitution - Missense
CLCA1ENSG00000016490ENST00000234701p.I913Mc.2739A>GSubstitution - Missense
COL24A1ENSG00000171502ENST00000370571p.Q545Hc.1635A>TSubstitution - Missense
NRXN3ENSG00000021645ENST00000335750p.D822Ec.2466C>ASubstitution - Missense
NRXN3ENSG00000021645ENST00000428277p.D190Ec.570C>ASubstitution - Missense
PLEK2ENSG00000100558ENST00000216446p.L209Lc.625C>TSubstitution - coding silent
RAB15ENSG00000139998ENST00000533601p.R129Qc.386G>ASubstitution - Missense
SPTBENSG00000070182ENST00000389722p.E1819Vc.5456A>TSubstitution - Missense
SPTBENSG00000070182ENST00000542895p.E1819Vc.5456A>TSubstitution - Missense
SPTBENSG00000070182ENST00000389722p.E1819*c.5455G>TSubstitution - Nonsense
TTC7BENSG00000165914ENST00000328459p.?c.277-1G>AUnknown
TTC8ENSG00000165533ENST00000380656p.?c.265+8T>GUnknown
VPS13CENSG00000129003ENST00000261517p.I670Vc.2008A>GSubstitution - Missense
VPS13CENSG00000129003ENST00000261517p.S3253Gc.9757A>GSubstitution - Missense
CLMNENSG00000165959ENST00000298912p.K454Rc.1361A>GSubstitution - Missense
SERPINA9ENSG00000170054ENST00000337425p.V93Ic.277G>ASubstitution - Missense
FEM1BENSG00000169018ENST00000306917p.V506Vc.1518C>GSubstitution - coding silent
VWA9ENSG00000138614ENST00000567744p.E174Kc.520G>ASubstitution - Missense
ZNF609ENSG00000180357ENST00000326648p.S685Sc.2055A>CSubstitution - coding silent
ENSG00000117600ENST00000370185p.D763Dc.2289T>CSubstitution - coding silent
SLC44A3ENSG00000143036ENST00000271227p.P422Pc.1266C>GSubstitution - coding silent
RASA3ENSG00000185989ENST00000334062p.D278Ec.834C>ASubstitution - Missense
HSP90AA1ENSG00000080824ENST00000334701p.?c.2455+4_2458del289Unknown
HSP90AA1ENSG00000080824ENST00000334701p.?c.2121+3_2123del589Unknown
HSP90AA1ENSG00000080824ENST00000334701p.?c.1704+1_1705-1del99Unknown
SPATA13ENSG00000182957ENST00000382108p.R896Cc.2686C>TSubstitution - Missense
DYNC2H1ENSG00000187240ENST00000334267p.L279Vc.835C>GSubstitution - Missense
MMP10ENSG00000166670ENST00000279441p.F352Lc.1054T>CSubstitution - Missense
ARHGAP20ENSG00000137727ENST00000260283p.H325Rc.974A>GSubstitution - Missense
MRVI1ENSG00000072952ENST00000547195p.N660Nc.1980T>CSubstitution - coding silent
AMPD3ENSG00000133805ENST00000396554p.L462Vc.1384C>GSubstitution - Missense
NBPF4ENSG00000196427ENST00000415641p.A592Ac.1776C>GSubstitution - coding silent
PRMT6ENSG00000198890ENST00000361318p.F148Fc.444C>TSubstitution - coding silent
DFFAENSG00000160049ENST00000377038p.E202Ec.606G>ASubstitution - coding silent
FBXO3ENSG00000110429ENST00000265651p.?c.1240-10C>TUnknown
NBPF14ENSG00000122497ENST00000369219p.T903Ic.2708C>TSubstitution - Missense
NUDT17ENSG00000186364ENST00000334513p.W144Cc.432G>CSubstitution - Missense
RBM15ENSG00000162775ENST00000369784p.Q931*c.2791C>TSubstitution - Nonsense
CFHR1ENSG00000244414ENST00000320493p.Q154Lc.461A>TSubstitution - Missense
PAX7ENSG00000009709ENST00000375375p.G102Gc.306C>TSubstitution - coding silent
PAX7ENSG00000009709ENST00000420770p.G102Gc.306C>TSubstitution - coding silent
PRG4ENSG00000116690ENST00000445192p.K990Kc.2970G>ASubstitution - coding silent
HMCN1ENSG00000143341ENST00000271588p.?c.340-10C>TUnknown
IFT140ENSG00000187535ENST00000426508p.A1124Ac.3372G>ASubstitution - coding silent
ENST00000367349p.L488fs*5c.1461_1462delATDeletion - Frameshift
DCUN1D3ENSG00000188215ENST00000324344p.R240Rc.720G>ASubstitution - coding silent
NTHL1ENSG00000065057ENST00000219066p.A170Ac.510C>TSubstitution - coding silent
KIAA1217ENSG00000120549ENST00000376454p.R1158Qc.3473G>ASubstitution - Missense
MPP7ENSG00000150054ENST00000375732p.?c.691-4C>TUnknown
PDSS1ENSG00000148459ENST00000376215p.I388Vc.1162A>GSubstitution - Missense
IRF2BPLENSG00000119669ENST00000238647p.T381Tc.1143G>CSubstitution - coding silent
VASH1ENSG00000071246ENST00000554237p.K145*c.433A>TSubstitution - Nonsense
YLPM1ENSG00000119596ENST00000325680p.N899Dc.2695A>GSubstitution - Missense
YLPM1ENSG00000119596ENST00000325680p.D133Gc.398A>GSubstitution - Missense
YLPM1ENSG00000119596ENST00000238571p.D133Gc.398A>GSubstitution - Missense
ACOT2ENSG00000119673ENST00000238651p.W36Rc.106T>CSubstitution - Missense
SYNMENSG00000182253ENST00000328642p.?c.1003+5G>AUnknown
VSTM4ENSG00000165633ENST00000332853p.T167Tc.501A>CSubstitution - coding silent
MKL2ENSG00000186260ENST00000318282p.L1012Lc.3036G>ASubstitution - coding silent
MKL2ENSG00000186260ENST00000341243p.L1051Lc.3153G>ASubstitution - coding silent
CACNA1HENSG00000196557ENST00000358590p.T2283Tc.6849C>TSubstitution - coding silent
FAM208BENSG00000108021ENST00000328090p.E752Dc.2256A>CSubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.?c.3501+7G>AUnknown
PCDH15ENSG00000150275ENST00000414778p.?c.3516+7G>AUnknown
OGDHLENSG00000197444ENST00000374103p.A533Ac.1599C>TSubstitution - coding silent
PLCB3ENSG00000149782ENST00000279230p.L243Lc.729G>ASubstitution - coding silent
ENST00000398860p.V1716Ic.5146G>ASubstitution - Missense
SLC29A3ENSG00000198246ENST00000373189p.V214Mc.640G>ASubstitution - Missense
POLA2ENSG00000014138ENST00000265465p.Q437Rc.1310A>GSubstitution - Missense
NRXN2ENSG00000110076ENST00000377551p.F712Fc.2136C>TSubstitution - coding silent
APBB1ENSG00000166313ENST00000299402p.E354*c.1060G>TSubstitution - Nonsense
COL9A2ENSG00000049089ENST00000372748p.I287Fc.859A>TSubstitution - Missense
ZMPSTE24ENSG00000084073ENST00000372759p.L24Vc.70C>GSubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.?c.8839-7C>TUnknown
MACF1ENSG00000127603ENST00000361689p.?c.7333-7C>TUnknown
CITENSG00000122966ENST00000392521p.D1001Dc.3003C>TSubstitution - coding silent
TBX3ENSG00000135111ENST00000257566p.W197*c.591G>ASubstitution - Nonsense
DCLRE1BENSG00000118655ENST00000369563p.K345Nc.1035G>CSubstitution - Missense
SETD1BENSG00000139718ENST00000542440p.A1851Ac.5553C>TSubstitution - coding silent
SETD1BENSG00000139718ENST00000267197p.A738Ac.2214C>TSubstitution - coding silent
FAM63AENSG00000143409ENST00000361936p.S312Sc.936C>TSubstitution - coding silent
ECM1ENSG00000143369ENST00000369047p.P46Pc.138C>TSubstitution - coding silent
ADCY10ENSG00000143199ENST00000367851p.H999Rc.2996A>GSubstitution - Missense
SPATA21ENSG00000187144ENST00000335496p.L78Hc.233T>ASubstitution - Missense
FLGENSG00000143631ENST00000368799p.G2291Sc.6871G>ASubstitution - Missense
HRNRENSG00000197915ENST00000368801p.Q441Hc.1323A>CSubstitution - Missense
LINGO4ENSG00000213171ENST00000368820p.A458Tc.1372G>ASubstitution - Missense
SEMA6CENSG00000143434ENST00000341697p.T294Tc.882T>GSubstitution - coding silent
CTDSPL2ENSG00000137770ENST00000260327p.S33Sc.99C>TSubstitution - coding silent
SERF2ENSG00000140264ENST00000381359p.?c.8-6C>TUnknown
CINPENSG00000100865ENST00000216756p.G128Rc.382G>ASubstitution - Missense
NM_001380.2p.Q139*c.415C>TSubstitution - Nonsense
RNASE1ENSG00000129538ENST00000397967p.R38Wc.112C>TSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.E2743Kc.8227G>ASubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.P2742Pc.8226T>CSubstitution - coding silent
ZFHX2ENSG00000136367ENST00000419474p.L296Lc.888C>TSubstitution - coding silent
ENST00000250479p.D143Nc.427G>ASubstitution - Missense
SALL2ENSG00000165821ENST00000327430p.T570Ac.1708A>GSubstitution - Missense
RNASE13ENSG00000206150ENST00000382951p.D22fs*14c.64delGDeletion - Frameshift
OOSP2ENSG00000149507ENST00000278855p.H52Yc.154C>TSubstitution - Missense
OR52N5ENSG00000181009ENST00000317093p.Y132Cc.395A>GSubstitution - Missense
ADCY4ENSG00000129467ENST00000310677p.R839Rc.2517G>ASubstitution - coding silent
TMEM132AENSG00000006118ENST00000005286p.P40Lc.119C>TSubstitution - Missense
TMEM132AENSG00000006118ENST00000005286p.P40Lc.119C>TSubstitution - Missense
TMEM132AENSG00000006118ENST00000005286p.P40Pc.120C>TSubstitution - coding silent
ZBTB3ENSG00000185670ENST00000394807p.F481Vc.1441T>GSubstitution - Missense
CLLU1ENSG00000257127ENST00000378485p.R59Qc.176G>ASubstitution - Missense
ENST00000329336p.V74Ic.220G>ASubstitution - Missense
NLRP14ENSG00000158077ENST00000299481p.S513Sc.1539A>GSubstitution - coding silent
OR2AG1ENSG00000170803ENST00000307401p.R299Wc.895C>TSubstitution - Missense
ENST00000370696p.R149Rc.447G>ASubstitution - coding silent
VEZTENSG00000028203ENST00000261219p.?c.115-7T>AUnknown
ATRNL1ENSG00000107518ENST00000355044p.K1142Tc.3425A>CSubstitution - Missense
PLEKHS1ENSG00000148735ENST00000369310p.Q278Kc.832C>ASubstitution - Missense
PLEKHS1ENSG00000148735ENST00000361048p.Q284Kc.850C>ASubstitution - Missense
GRHL3ENSG00000158055ENST00000350501p.G353Gc.1059C>TSubstitution - coding silent
GRHL3ENSG00000158055ENST00000236255p.G358Gc.1074C>TSubstitution - coding silent
BAG3ENSG00000151929ENST00000369085p.G411Rc.1231G>ASubstitution - Missense
DHTKD1ENSG00000181192ENST00000263035p.S3Cc.8C>GSubstitution - Missense
SH3PXD2AENSG00000107957ENST00000355946p.P805Lc.2414C>TSubstitution - Missense
KIF21AENSG00000139116ENST00000395670p.R1368Cc.4102C>TSubstitution - Missense
GNPTABENSG00000111670ENST00000299314p.N273Nc.819C>TSubstitution - coding silent
MYBPC1ENSG00000196091ENST00000361466p.T928Ic.2783C>TSubstitution - Missense
CENPJENSG00000151849ENST00000381884p.M21Lc.61A>TSubstitution - Missense
NELL2ENSG00000184613ENST00000437801p.G554Ec.1661G>ASubstitution - Missense
NELL2ENSG00000184613ENST00000429094p.G504Ec.1511G>ASubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.G1699Vc.5096G>TSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.G1699Vc.5096G>TSubstitution - Missense
GTF3AENSG00000122034ENST00000381140p.S48Nc.143G>ASubstitution - Missense
PRDM16ENSG00000142611ENST00000270722p.C157Cc.471C>TSubstitution - coding silent
NM_007365.1p.G409Ec.1226G>ASubstitution - Missense
SH3D21ENSG00000214193ENST00000453908p.W221Gc.661T>GSubstitution - Missense
TP73ENSG00000078900ENST00000378295p.Y554Cc.1661A>GSubstitution - Missense
TP73ENSG00000078900ENST00000378288p.Y505Cc.1514A>GSubstitution - Missense
ADCENSG00000142920ENST00000373443p.K344Tc.1031A>CSubstitution - Missense
ADCENSG00000142920ENST00000398167p.K364Tc.1091A>CSubstitution - Missense
ATP10AENSG00000206190ENST00000356865p.V165Vc.495G>ASubstitution - coding silent
ITLN1ENSG00000179914ENST00000326245p.Q279Hc.837G>TSubstitution - Missense
NCSTNENSG00000162736ENST00000294785p.W84Cc.252G>CSubstitution - Missense
LRRC52ENSG00000162763ENST00000294818p.G252Sc.754G>ASubstitution - Missense
HSD17B7ENSG00000132196ENST00000254521p.?c.723_747+13>35Unknown
SPTY2D1ENSG00000179119ENST00000336349p.R463Pc.1388G>CSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.L664Fc.1992G>TSubstitution - Missense
PAPPA2ENSG00000116183ENST00000367661p.L148Lc.444C>TSubstitution - coding silent
GNB3ENSG00000111664ENST00000229264p.?c.58-9T>CUnknown
SLC35E3ENSG00000175782ENST00000398004p.N254Sc.761A>GSubstitution - Missense
COLGALT2ENSG00000198756ENST00000361927p.M323Vc.967A>GSubstitution - Missense
TRHDEENSG00000072657ENST00000261180p.I525Ic.1575C>TSubstitution - coding silent
ENST00000290575p.G496Ec.1487G>ASubstitution - Missense
FXYD6ENSG00000137726ENST00000260282p.I53Ic.159C>TSubstitution - coding silent
BACE1ENSG00000186318ENST00000313005p.P54Tc.160C>ASubstitution - Missense
BACE1ENSG00000186318ENST00000313005p.E53Ec.159G>ASubstitution - coding silent
CASP12ENSG00000204403ENST00000422698p.A149Tc.445G>ASubstitution - Missense
NM_004347.1p.I403Vc.1207A>GSubstitution - Missense
ABCC4ENSG00000125257ENST00000376887p.E67Dc.201A>CSubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.A1131Ac.3393C>TSubstitution - coding silent
S1PR1ENSG00000170989ENST00000305352p.L172Lc.516C>TSubstitution - coding silent
ALPLENSG00000162551ENST00000374832p.A177Tc.529G>ASubstitution - Missense
SYT15ENSG00000204176ENST00000374321p.L248Fc.742C>TSubstitution - Missense
SYT15ENSG00000204176ENST00000374325p.L248Fc.742C>TSubstitution - Missense
DIP2CENSG00000151240ENST00000280886p.G311Gc.933C>TSubstitution - coding silent
RASSF4ENSG00000107551ENST00000340258p.L314Lc.942G>ASubstitution - coding silent
RASGEF1AENSG00000198915ENST00000395809p.T442Mc.1325C>TSubstitution - Missense
ANKRD30AENSG00000148513ENST00000361713p.I535Vc.1603A>GSubstitution - Missense
ADCK3ENSG00000163050ENST00000366779p.F81Lc.241T>CSubstitution - Missense
HSPG2ENSG00000142798ENST00000374695p.G562Sc.1684G>ASubstitution - Missense
KCNMA1ENSG00000156113ENST00000286627p.I886Mc.2658C>GSubstitution - Missense
USP54ENSG00000166348ENST00000408019p.N1441Nc.4323C>TSubstitution - coding silent
NM_152586.2p.N524Nc.1572C>TSubstitution - coding silent
USP54ENSG00000166348ENST00000408019p.A28fs*7c.83_87delCCCCCDeletion - Frameshift
SU_OBSCN.1p.P2014Qc.6041C>ASubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.P2297Qc.6890C>ASubstitution - Missense
LIPKENSG00000204021ENST00000404190p.S124Tc.370T>ASubstitution - Missense
SFTPDENSG00000133661ENST00000372292p.G202Ec.605G>ASubstitution - Missense
KINENSG00000151657ENST00000379562p.I173Lc.517A>CSubstitution - Missense
KCNMA1ENSG00000156113ENST00000286627p.D899Yc.2695G>TSubstitution - Missense
LIPKENSG00000204021ENST00000404190p.S124Tc.370T>ASubstitution - Missense
ALDH18A1ENSG00000059573ENST00000371224p.K71Ec.211A>GSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.T4466Kc.13397C>ASubstitution - Missense
B4GALNT4ENSG00000182272ENST00000329962p.S231Ac.691T>GSubstitution - Missense
IQGAP3ENSG00000183856ENST00000361170p.R383Qc.1148G>ASubstitution - Missense
APOA1BPENSG00000163382ENST00000368235p.L89Lc.267G>TSubstitution - coding silent
TMEM79ENSG00000163472ENST00000295694p.V362Vc.1086G>TSubstitution - coding silent
OR51S1ENSG00000176922ENST00000322101p.L21Wc.62T>GSubstitution - Missense
AGBL2ENSG00000165923ENST00000298861p.T661Pc.1981A>CSubstitution - Missense
FHAD1ENSG00000142621ENST00000375999p.H950Hc.2850T>CSubstitution - coding silent
LRP1ENSG00000123384ENST00000243077p.A2179Vc.6536C>TSubstitution - Missense
OR6P1ENSG00000186440ENST00000334632p.Q316Hc.948G>TSubstitution - Missense
KIF5AENSG00000155980ENST00000455537p.V231Vc.693G>TSubstitution - coding silent
ENST00000458043_v65p.?c.4054+10C>TUnknown
NAV3ENSG00000067798ENST00000397909p.N1749Dc.5245A>GSubstitution - Missense
NM_014903.3p.N1749Dc.5245A>GSubstitution - Missense
E2F7ENSG00000165891ENST00000322886p.I12Ic.36C>ASubstitution - coding silent
C1QAENSG00000173372ENST00000374642p.R5Rc.13C>ASubstitution - coding silent
HEATR1ENSG00000119285ENST00000366582p.A521Tc.1561G>ASubstitution - Missense
LYSTENSG00000143669ENST00000389793p.T3104Tc.9312C>GSubstitution - coding silent
EXOC8ENSG00000116903ENST00000360394p.L652Fc.1956G>CSubstitution - Missense
C1orf198ENSG00000119280ENST00000366663p.K28*c.82A>TSubstitution - Nonsense
POLEENSG00000177084ENST00000320574p.D529Dc.1587C>TSubstitution - coding silent
POLEENSG00000177084ENST00000320574p.D529Dc.1587C>TSubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.G682Rc.2044G>ASubstitution - Missense
SLCO1B3ENSG00000111700ENST00000381545p.C613Cc.1839T>CSubstitution - coding silent
SCN8AENSG00000196876ENST00000354534p.P285Pc.855C>TSubstitution - coding silent
FAM186AENSG00000185958ENST00000327337p.Q2179*c.6535C>TSubstitution - Nonsense
KIAA1024ENSG00000169330ENST00000305428p.T813Ic.2438C>TSubstitution - Missense
KRT71ENSG00000139648ENST00000267119p.M258Tc.773T>CSubstitution - Missense
KRT84ENSG00000161849ENST00000257951p.C205Fc.614G>TSubstitution - Missense
RHCGENSG00000140519ENST00000268122p.Q82Lc.245A>TSubstitution - Missense
ENST00000268134p.S1374Sc.4122T>CSubstitution - coding silent
ACANENSG00000157766ENST00000439576p.S1374Sc.4122T>CSubstitution - coding silent
ENST00000268134p.V1382Lc.4144G>CSubstitution - Missense
ACANENSG00000157766ENST00000439576p.S1385Ac.4153T>GSubstitution - Missense
ZNF592ENSG00000166716ENST00000299927p.S664Sc.1992G>ASubstitution - coding silent
ZNF592ENSG00000166716ENST00000299927p.P1210Lc.3629C>TSubstitution - Missense
WDR93ENSG00000140527ENST00000268130p.P22Tc.64C>ASubstitution - Missense
CUZD1ENSG00000138161ENST00000368904p.E56Ac.167A>CSubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.D1721Nc.5161G>ASubstitution - Missense
KCTD14ENSG00000151364ENST00000353172p.A206Ac.618G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.E258*c.772G>TSubstitution - Nonsense
TP53ENSG00000141510ENST00000269305p.H214Rc.641A>GSubstitution - Missense
RETENSG00000165731ENST00000355710p.C634Wc.1902C>GSubstitution - Missense
PDE1CENSG00000154678ENST00000396184p.G274Rc.820G>ASubstitution - Missense
PDE1CENSG00000154678ENST00000396191p.G274Rc.820G>ASubstitution - Missense
TP53ENSG00000141510ENST00000413465p.E258*c.772G>TSubstitution - Nonsense
RNF38ENSG00000137075ENST00000259605p.?c.1487-10G>TUnknown
LRRC34ENSG00000171757ENST00000316515p.P57Sc.169C>TSubstitution - Missense
ENST00000273612p.T103Tc.309T>CSubstitution - coding silent
GLI2ENSG00000074047ENST00000361492p.V595Ic.1783G>ASubstitution - Missense
TENM3ENSG00000218336ENST00000511685p.R1375Cc.4123C>TSubstitution - Missense
FAM151AENSG00000162391ENST00000302250p.T222Tc.666G>ASubstitution - coding silent
HTR3EENSG00000186038ENST00000335304p.A424Vc.1271C>TSubstitution - Missense
CHKAENSG00000110721ENST00000265689p.S162Sc.486C>TSubstitution - coding silent
REP15ENSG00000174236ENST00000310791p.G156*c.466G>TSubstitution - Nonsense
DARS2ENSG00000117593ENST00000361951p.?c.492+2T>CUnknown
C17orf97ENSG00000187624ENST00000360127p.F255Ic.763T>ASubstitution - Missense
TP53ENSG00000141510ENST00000413465p.H214Rc.641A>GSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.H214Rc.641A>GSubstitution - Missense
ENST00000545858p.H121Rc.362A>GSubstitution - Missense
C11orf82ENSG00000165490ENST00000430323p.E399Qc.1195G>CSubstitution - Missense
KLHDC7AENSG00000179023ENST00000400664p.G589Rc.1765G>ASubstitution - Missense
FBRSL1ENSG00000112787ENST00000261673p.L249Lc.747G>ASubstitution - coding silent
CA2ENSG00000104267ENST00000285379p.R226Cc.676C>TSubstitution - Missense
INPP5JENSG00000185133ENST00000331075p.R781Cc.2341C>TSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.D379Nc.1135G>ASubstitution - Missense
DHRS1ENSG00000157379ENST00000396813p.Q82*c.244C>TSubstitution - Nonsense
KRBOX1ENSG00000240747ENST00000418176p.?c.37-7G>AUnknown
CNTNAP2ENSG00000174469ENST00000361727p.Y372Nc.1114T>ASubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.L1327Lc.3981C>TSubstitution - coding silent
CCDC88CENSG00000015133ENST00000389857p.L1327Lc.3981C>TSubstitution - coding silent
MYEOVENSG00000172927ENST00000308946p.W272fs*>42c.807delGDeletion - Frameshift
TNXBENSG00000168477ENST00000375244p.D1354Nc.4060G>ASubstitution - Missense
ENST00000327087_v68p.?c.523-1G>TUnknown
TNFRSF13BENSG00000240505ENST00000261652p.G76Sc.226G>ASubstitution - Missense
ZNF646ENSG00000167395ENST00000300850p.I524Ic.1572C>TSubstitution - coding silent
SLC19A3ENSG00000135917ENST00000258403p.E120Kc.358G>ASubstitution - Missense
TP53ENSG00000141510ENST00000455263p.H214Rc.641A>GSubstitution - Missense
TYRO3ENSG00000092445ENST00000263798p.R659Wc.1975C>TSubstitution - Missense
C3orf65ENSG00000163915ENST00000296270p.K24Nc.72G>TSubstitution - Missense
PROM1ENSG00000007062ENST00000447510p.G571Sc.1711G>ASubstitution - Missense
SLC30A1ENSG00000170385ENST00000367001p.E359Gc.1076A>GSubstitution - Missense
CR2ENSG00000117322ENST00000367057p.P208Pc.624C>ASubstitution - coding silent
C1orf116ENSG00000182795ENST00000359470p.T57Nc.170C>ASubstitution - Missense
SPRYD3ENSG00000167778ENST00000301463p.E382_E383delEEc.1146_1151delAGAGGADeletion - In frame
TENC1ENSG00000111077ENST00000314250p.R159fs*27c.475delCDeletion - Frameshift
TENC1ENSG00000111077ENST00000314276p.V238Ic.712G>ASubstitution - Missense
TENC1ENSG00000111077ENST00000314250p.V228Ic.682G>ASubstitution - Missense
USH2AENSG00000042781ENST00000307340p.T3659Ic.10976C>TSubstitution - Missense
PAN2ENSG00000135473ENST00000440411p.V244Vc.732G>ASubstitution - coding silent
CSPG4ENSG00000173546ENST00000308508p.L230Rc.689T>GSubstitution - Missense
ZC3H13ENSG00000123200ENST00000242848p.C1666Yc.4997G>ASubstitution - Missense
TSC22D1ENSG00000102804ENST00000458659p.Y997Fc.2990A>TSubstitution - Missense
ACACBENSG00000076555ENST00000377848p.R2282Hc.6845G>ASubstitution - Missense
WSCD2ENSG00000075035ENST00000332082p.A128Ac.384C>GSubstitution - coding silent
POLR3BENSG00000013503ENST00000228347p.Q220Qc.660A>GSubstitution - coding silent
RFX4ENSG00000111783ENST00000357881p.D97Hc.289G>CSubstitution - Missense
ENSG00000180574ENST00000538173p.G48Ac.143G>CSubstitution - Missense
TAS2R10ENSG00000121318ENST00000240619p.Y86Nc.256T>ASubstitution - Missense
DOCK9ENSG00000088387ENST00000339416p.R478Ic.1433G>TSubstitution - Missense
DOCK9ENSG00000088387ENST00000448493p.R489Ic.1466G>TSubstitution - Missense
ABCC4ENSG00000125257ENST00000376887p.E67Dc.201A>CSubstitution - Missense


COSMIC

2 mutations reported
0 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
RETENSG00000165731ENST00000355710p.C634Wc.1902C>GSubstitution - Missense8556059
RETENSG00000165731ENST00000355710p.C634Wc.1902C>GSubstitution - Missense19487299