Cell Line Synopsis
Cell Line Overview
Mutations
Copy Number Variation
Gene Expression
RNAi
Compound Sensitivity Profile
Similar Cell Lines

ChaGo-K-1 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1310 mutations reported
413 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
EIF4A3ENSG00000141543ENST00000269349p.R14Pc.41G>CSubstitution - Missense
BRIP1ENSG00000136492ENST00000259008p.T104Ic.311C>TSubstitution - Missense
TAS2R5ENSG00000127366ENST00000247883p.D250Dc.750T>CSubstitution - coding silent
TIAM1ENSG00000156299ENST00000286827p.A1582Dc.4745C>ASubstitution - Missense
TIAM1ENSG00000156299ENST00000286827p.?c.4045+10C>TUnknown
SLC14A1ENSG00000141469ENST00000436407p.P426Pc.1278T>GSubstitution - coding silent
ENST00000356067p.A618Ac.1854G>TSubstitution - coding silent
ELMOD3ENSG00000115459ENST00000315658p.Q97Rc.290A>GSubstitution - Missense
ANAPC1ENSG00000153107ENST00000341068p.V360Lc.1078G>CSubstitution - Missense
ABCB1ENSG00000085563ENST00000265724p.?c.2065-10T>GUnknown
MTHFD1LENSG00000120254ENST00000367321p.E887*c.2659G>TSubstitution - Nonsense
PTPN4ENSG00000088179ENST00000263708p.S279Cc.836C>GSubstitution - Missense
F8ENSG00000185010ENST00000360256p.D1682Nc.5044G>ASubstitution - Missense
SRRTENSG00000087087ENST00000347433p.E400fs*16c.1194_1204del11Deletion - Frameshift
CYSLTR1ENSG00000173198ENST00000373304p.W148Sc.443G>CSubstitution - Missense
HCLS1ENSG00000180353ENST00000314583p.R236Lc.707G>TSubstitution - Missense
UTYENSG00000183878ENST00000331397p.E61Qc.181G>CSubstitution - Missense
ZKSCAN1ENSG00000106261ENST00000324306p.D211Ec.633C>GSubstitution - Missense
CXorf66ENSG00000203933ENST00000370540p.A99Dc.296C>ASubstitution - Missense
GABRB2ENSG00000145864ENST00000274547p.D67Dc.201C>TSubstitution - coding silent
HDAC9ENSG00000048052ENST00000441542p.G735Rc.2203G>CSubstitution - Missense
AKT2ENSG00000105221ENST00000392038p.L110Lc.330C>GSubstitution - coding silent
UHRF1BP1ENSG00000065060ENST00000192788p.H650Yc.1948C>TSubstitution - Missense
ENST00000251268_v61p.S701Lc.2102C>TSubstitution - Missense
SLC5A11ENSG00000158865ENST00000347898p.?c.1651-2_1673del25Unknown
UBFD1ENSG00000103353ENST00000395878p.?c.819+9C>TUnknown
ZFHX3ENSG00000140836ENST00000268489p.Y2301Yc.6903T>CSubstitution - coding silent
GDPD4ENSG00000178795ENST00000376217p.L167Fc.501A>TSubstitution - Missense
RNGTTENSG00000111880ENST00000369475p.?c.278+1G>CUnknown
SH3PXD2BENSG00000174705ENST00000311601p.T829Tc.2487C>TSubstitution - coding silent
GFRA3ENSG00000146013ENST00000274721p.Y182*c.546C>ASubstitution - Nonsense
HBS1LENSG00000112339ENST00000367837p.S156Sc.468T>CSubstitution - coding silent
PURBENSG00000146676ENST00000395699p.D184Hc.550G>CSubstitution - Missense
VIPR2ENSG00000106018ENST00000262178p.C93Fc.278G>TSubstitution - Missense
FBXO9ENSG00000112146ENST00000244426p.L176Lc.526C>TSubstitution - coding silent
SCUBE3ENSG00000146197ENST00000394681p.E243Qc.727G>CSubstitution - Missense
AIDAENSG00000186063ENST00000541237p.S123Cc.368C>GSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.F1542fs*17c.4622delTDeletion - Frameshift
RAF1ENSG00000132155ENST00000442415p.V226Ic.676G>ASubstitution - Missense
CRISP3ENSG00000096006ENST00000433368p.?c.141+8T>GUnknown
ENST00000376625_v68p.Q66Qc.198G>ASubstitution - coding silent
PSME2ENSG00000100911ENST00000216802p.D56Ec.168C>ASubstitution - Missense
ZNF695ENSG00000197472ENST00000339986p.A360Tc.1078G>ASubstitution - Missense
RAB3IL1ENSG00000167994ENST00000394836p.E272Qc.814G>CSubstitution - Missense
NM_006105.3p.S452*c.1355C>GSubstitution - Nonsense
PI4KBENSG00000143393ENST00000368875p.H564Rc.1691A>GSubstitution - Missense
NOS1ENSG00000089250ENST00000317775p.T718Kc.2153C>ASubstitution - Missense
CASZ1ENSG00000130940ENST00000377022p.H210Hc.630C>TSubstitution - coding silent
KIAA0247ENSG00000100647ENST00000342745p.T289Mc.866C>TSubstitution - Missense
SLC36A4ENSG00000180773ENST00000326402p.F32fs*47c.96delTDeletion - Frameshift
UNC13CENSG00000137766ENST00000260323p.A1538Ac.4614G>TSubstitution - coding silent
ENST00000331986p.S3472Cc.10415C>GSubstitution - Missense
COL4A6ENSG00000197565ENST00000394872p.G867Dc.2600G>ASubstitution - Missense
PREX2ENSG00000046889ENST00000288368p.C123Cc.369T>CSubstitution - coding silent
SEPT9ENSG00000184640ENST00000427180p.T44Tc.132G>ASubstitution - coding silent
FAM222BENSG00000173065ENST00000341217p.L25Lc.75T>CSubstitution - coding silent
NEFMENSG00000104722ENST00000221166p.G866Ac.2597G>CSubstitution - Missense
MAPRE2ENSG00000166974ENST00000300249p.K102Kc.306G>ASubstitution - coding silent
LAMA3ENSG00000053747ENST00000269217p.L231Lc.693C>GSubstitution - coding silent
SYT4ENSG00000132872ENST00000255224p.R247Gc.739A>GSubstitution - Missense
EFCAB3ENSG00000172421ENST00000305286p.L148Lc.444A>GSubstitution - coding silent
HTTENSG00000197386ENST00000355072p.*3143*c.9428G>ASubstitution - coding silent
MYH4ENSG00000264424ENST00000255381p.A974Gc.2921C>GSubstitution - Missense
TMEM45AENSG00000181458ENST00000323523p.Y202*c.606T>ASubstitution - Nonsense
ZSCAN5DENSG00000267908ENST00000600684p.S160Sc.480C>TSubstitution - coding silent
ELMO3ENSG00000102890ENST00000393997p.E187Kc.559G>ASubstitution - Missense
UBR2ENSG00000024048ENST00000372899p.Q515Hc.1545G>TSubstitution - Missense
MAPK14ENSG00000112062ENST00000229794p.V239Lc.715G>CSubstitution - Missense
TBC1D32ENSG00000146350ENST00000398212p.T28Ac.82A>GSubstitution - Missense
SAMD3ENSG00000164483ENST00000368134p.N489Sc.1466A>GSubstitution - Missense
LIG3ENSG00000005156ENST00000378526p.L485Fc.1455G>TSubstitution - Missense
EPHA1ENSG00000146904ENST00000275815p.R351Cc.1051C>TSubstitution - Missense
MED15ENSG00000099917ENST00000292733p.L650Lc.1950G>CSubstitution - coding silent
ARHGEF1ENSG00000076928ENST00000337665p.R818Rc.2454G>TSubstitution - coding silent
VARSENSG00000204394ENST00000375663p.L121Lc.363C>GSubstitution - coding silent
LPPENSG00000145012ENST00000312675p.M164fs*59c.488_489insAInsertion - Frameshift
KNG1ENSG00000113889ENST00000287611p.R308Ic.923G>TSubstitution - Missense
UBFD1ENSG00000103353ENST00000219638p.?c.1491+9C>TUnknown
SMC2ENSG00000136824ENST00000303219p.E202Qc.604G>CSubstitution - Missense
ENST00000499676_v70p.A338Pc.1012G>CSubstitution - Missense
ESF1ENSG00000089048ENST00000202816p.L734Mc.2200C>ASubstitution - Missense
PLEKHA5ENSG00000052126ENST00000309364p.G61Gc.183C>TSubstitution - coding silent
SCN8AENSG00000196876ENST00000354534p.K694Kc.2082G>ASubstitution - coding silent
KLHL25ENSG00000183655ENST00000337975p.E469*c.1405G>TSubstitution - Nonsense
FMN2ENSG00000155816ENST00000319653p.S1745*c.5234C>GSubstitution - Nonsense
SUCOENSG00000094975ENST00000367723p.H618Yc.1852C>TSubstitution - Missense
B3GAT1ENSG00000109956ENST00000392580p.R61Gc.181C>GSubstitution - Missense
CITENSG00000122966ENST00000392521p.V1091Ic.3271G>ASubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.L89Lc.267G>CSubstitution - coding silent
PHLDB1ENSG00000019144ENST00000361417p.M1376Ic.4128G>TSubstitution - Missense
CTAGE5ENSG00000150527ENST00000280083p.N373Ic.1118A>TSubstitution - Missense
OTX2ENSG00000165588ENST00000339475p.K95Nc.285G>TSubstitution - Missense
SLC44A5ENSG00000137968ENST00000370855p.P30Pc.90T>ASubstitution - coding silent
ENST00000354677p.C123Cc.369T>CSubstitution - coding silent
CXorf64ENSG00000183631ENST00000371125p.H11Nc.31C>ASubstitution - Missense
ANKRD30AENSG00000148513ENST00000602533p.H1227Hc.3681T>CSubstitution - coding silent
DNAJA4ENSG00000140403ENST00000446172p.S86Cc.257C>GSubstitution - Missense
SCN8AENSG00000196876ENST00000354534p.K694Kc.2082G>ASubstitution - coding silent
SPENENSG00000065526ENST00000375759p.Q1319Pc.3956A>CSubstitution - Missense
CRPENSG00000132693ENST00000255030p.S159Yc.476C>ASubstitution - Missense
CTPS1ENSG00000171793ENST00000372621p.S311*c.932C>GSubstitution - Nonsense
HNRNPCL1ENSG00000179172ENST00000317869p.Q262fs*8c.785delADeletion - Frameshift
PADI3ENSG00000142619ENST00000375460p.I216Vc.646A>GSubstitution - Missense
LAMC2ENSG00000058085ENST00000264144p.?c.2456+6T>GUnknown
OR2B11ENSG00000177535ENST00000318749p.F157Lc.471C>ASubstitution - Missense
EML5ENSG00000165521ENST00000554922p.?c.5898-9T>CUnknown
NM_015024.2p.E12Kc.34G>ASubstitution - Missense
TNKSENSG00000173273ENST00000310430p.I310Vc.928A>GSubstitution - Missense
FHOD3ENSG00000134775ENST00000257209p.L1143Hc.3428T>ASubstitution - Missense
CLDN8ENSG00000156284ENST00000399899p.S151Lc.452C>TSubstitution - Missense
ENSG00000088899ENST00000329152p.R434Rc.1302G>CSubstitution - coding silent
CYC1ENSG00000179091ENST00000318911p.D209Nc.625G>ASubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.?c.3546-10C>AUnknown
NLRP12ENSG00000142405ENST00000345770p.L160Lc.480C>GSubstitution - coding silent
KCNQ2ENSG00000075043ENST00000354587p.I115Ic.345C>TSubstitution - coding silent
ZMAT4ENSG00000165061ENST00000297737p.G148Rc.442G>ASubstitution - Missense
OR5K1ENSG00000232382ENST00000332650p.R91Tc.272G>CSubstitution - Missense
NUDT12ENSG00000112874ENST00000230792p.H278Yc.832C>TSubstitution - Missense
DVL2ENSG00000004975ENST00000005340p.V46Lc.136G>CSubstitution - Missense
DCTN1ENSG00000204843ENST00000361874p.R32Lc.95G>TSubstitution - Missense
ITPR1ENSG00000150995ENST00000357086p.E797Dc.2391A>CSubstitution - Missense
IFNA1ENSG00000197919ENST00000276927p.S50Sc.150C>ASubstitution - coding silent
TNRC6BENSG00000100354ENST00000454349p.T1821Kc.5462C>ASubstitution - Missense
FARS2ENSG00000145982ENST00000324331p.D366Nc.1096G>ASubstitution - Missense
SMC2ENSG00000136824ENST00000286398p.E202Qc.604G>CSubstitution - Missense
KHDC3LENSG00000203908ENST00000370367p.G178Rc.532G>ASubstitution - Missense
RABEP1ENSG00000029725ENST00000262477p.T673Sc.2018C>GSubstitution - Missense
POLR2BENSG00000047315ENST00000381227p.Q1115*c.3343C>TSubstitution - Nonsense
SLC32A1ENSG00000101438ENST00000217420p.L428Lc.1284G>ASubstitution - coding silent
PLA2R1ENSG00000153246ENST00000283243p.D585Hc.1753G>CSubstitution - Missense
RGS3ENSG00000138835ENST00000374140p.S674*c.2021C>GSubstitution - Nonsense
RGS3ENSG00000138835ENST00000343817p.S393*c.1178C>GSubstitution - Nonsense
OR51Q1ENSG00000167360ENST00000300778p.R317Tc.950G>CSubstitution - Missense
UNC13CENSG00000137766ENST00000545554p.A1538Ac.4614G>TSubstitution - coding silent
SYNE2ENSG00000054654ENST00000357395p.E244Qc.730G>CSubstitution - Missense
SMARCC2ENSG00000139613ENST00000267064p.N511fs*147c.1528_1529insTTInsertion - Frameshift
KCNH3ENSG00000135519ENST00000257981p.P837Rc.2510C>GSubstitution - Missense
KRT82ENSG00000161850ENST00000257974p.A388Vc.1163C>TSubstitution - Missense
OBFC1ENSG00000107960ENST00000369764p.P13Ac.37C>GSubstitution - Missense
KIAA1279ENSG00000198954ENST00000361983p.K34Nc.102G>TSubstitution - Missense
GRIP1ENSG00000155974ENST00000398016p.A1056Tc.3166G>ASubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.A1538Ac.4614G>TSubstitution - coding silent
CLIP1ENSG00000130779ENST00000358808p.Q86Hc.258G>TSubstitution - Missense
ATP8B2ENSG00000143515ENST00000368487p.M129Ic.387G>CSubstitution - Missense
ZWILCHENSG00000174442ENST00000307897p.K527*c.1579A>TSubstitution - Nonsense
CNTNAP4ENSG00000152910ENST00000307431p.E673Dc.2019G>CSubstitution - Missense
PAX1ENSG00000125813ENST00000398485p.A381Ac.1143C>ASubstitution - coding silent
FSIP2ENSG00000188738ENST00000343098p.Q1247*c.3739C>TSubstitution - Nonsense
MTG2ENSG00000101181ENST00000370823p.A183Ac.549G>ASubstitution - coding silent
FANCD2ENSG00000144554ENST00000287647p.L762Lc.2286A>GSubstitution - coding silent
COL20A1ENSG00000101203ENST00000326996p.D728Vc.2183A>TSubstitution - Missense
SSR3ENSG00000114850ENST00000265044p.?c.261-3C>GUnknown
PSMB10ENSG00000205220ENST00000358514p.F127Fc.381C>TSubstitution - coding silent
SEMA5AENSG00000112902ENST00000382496p.S317Lc.950C>TSubstitution - Missense
MTRRENSG00000124275ENST00000264668p.S485*c.1454C>ASubstitution - Nonsense
NFATC1ENSG00000131196ENST00000329101p.T764Pc.2290A>CSubstitution - Missense
COL9A1ENSG00000112280ENST00000320755p.?c.774+7G>TUnknown
MEGF10ENSG00000145794ENST00000274473p.E270fs*16c.803_804insCInsertion - Frameshift
FAM120AENSG00000048828ENST00000277165p.S770*c.2309C>GSubstitution - Nonsense
TRMT2BENSG00000188917ENST00000545398p.?c.1289-1G>CUnknown
UNC13DENSG00000092929ENST00000207549p.?c.570-6A>TUnknown
DYNLRB1ENSG00000125971ENST00000300469p.G28Cc.82G>TSubstitution - Missense
UGT2B15ENSG00000196620ENST00000338206p.L133Fc.399G>CSubstitution - Missense
KRTAP6-2ENSG00000186930ENST00000334897p.C17fs*7c.48delGDeletion - Frameshift
ENST00000309305p.Y292Hc.874T>CSubstitution - Missense
MGAMENSG00000257335ENST00000549489p.W1531Sc.4592G>CSubstitution - Missense
ENST00000360191p.S139Pc.415T>CSubstitution - Missense
GORASP2ENSG00000115806ENST00000234160p.L59Lc.177G>CSubstitution - coding silent
MYO18BENSG00000133454ENST00000335473p.?c.3209-7T>AUnknown
ALG1LENSG00000189366ENST00000340333p.V51Vc.153G>CSubstitution - coding silent
ENST00000160874p.E66Dc.198G>CSubstitution - Missense
FAM161AENSG00000170264ENST00000307507p.E424*c.1270G>TSubstitution - Nonsense
RAF1ENSG00000132155ENST00000251849p.V226Ic.676G>ASubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.G994Vc.2981G>TSubstitution - Missense
SYCP2LENSG00000153157ENST00000283141p.S621Sc.1863A>TSubstitution - coding silent
UTYENSG00000183878ENST00000331397p.E61Qc.181G>CSubstitution - Missense
THEMISENSG00000172673ENST00000543064p.S517Sc.1551T>CSubstitution - coding silent
GCNT1ENSG00000187210ENST00000376730p.E310Qc.928G>CSubstitution - Missense
NDUFAF7ENSG00000003509ENST00000002125p.G294Cc.880G>TSubstitution - Missense
CASP2ENSG00000106144ENST00000310447p.R22Gc.64A>GSubstitution - Missense
HIST1H1BENSG00000184357ENST00000331442p.T99Sc.295A>TSubstitution - Missense
RBP4ENSG00000138207ENST00000371469p.A16Ac.48G>ASubstitution - coding silent
HRH3ENSG00000101180ENST00000317393p.I125Mc.375C>GSubstitution - Missense
MAST3ENSG00000099308ENST00000262811p.F1076Fc.3228C>TSubstitution - coding silent
RXRGENSG00000143171ENST00000359842p.E157Kc.469G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.?c.560-1G>CUnknown
CCDC88AENSG00000115355ENST00000263630p.E1222*c.3664G>TSubstitution - Nonsense
ARL11ENSG00000152213ENST00000282026p.D109Yc.325G>TSubstitution - Missense
SLC28A1ENSG00000156222ENST00000537624p.A322Sc.964G>TSubstitution - Missense
MYOM3ENSG00000142661ENST00000374434p.V1191Gc.3572T>GSubstitution - Missense
STARD13ENSG00000133121ENST00000336934p.L375Lc.1125G>CSubstitution - coding silent
GABRB3ENSG00000166206ENST00000299267p.N138Kc.414C>ASubstitution - Missense
NUF2ENSG00000143228ENST00000367900p.V366Fc.1096G>TSubstitution - Missense
CLCNKAENSG00000186510ENST00000331433p.P627Rc.1880C>GSubstitution - Missense
IGF1RENSG00000140443ENST00000268035p.G929Ec.2786G>ASubstitution - Missense
MYO3AENSG00000095777ENST00000265944p.E1448Kc.4342G>ASubstitution - Missense
ENST00000280576p.S1747Sc.5241G>ASubstitution - coding silent
CARD6ENSG00000132357ENST00000254691p.E506Qc.1516G>CSubstitution - Missense
TTNENSG00000155657ENST00000360870p.D3629Nc.10885G>ASubstitution - Missense
TVP23CENSG00000175106ENST00000225576p.F42Lc.126C>GSubstitution - Missense
ERC2ENSG00000187672ENST00000288221p.E413Ec.1239G>ASubstitution - coding silent
VWDEENSG00000146530ENST00000326715p.Q21Lc.62A>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.G26164Gc.78492T>CSubstitution - coding silent
CDC45ENSG00000093009ENST00000407835p.D140Nc.418G>ASubstitution - Missense
NLRP12ENSG00000142405ENST00000324134p.L160Lc.480C>GSubstitution - coding silent
ZNF417ENSG00000173480ENST00000312026p.H370Qc.1110T>GSubstitution - Missense
DYSFENSG00000135636ENST00000258104p.K571Nc.1713G>TSubstitution - Missense
CTNND2ENSG00000169862ENST00000304623p.N1096Kc.3288C>ASubstitution - Missense
NKD2ENSG00000145506ENST00000296849p.F128Ic.382T>ASubstitution - Missense
SH2B2ENSG00000160999ENST00000306803p.A210Ac.630G>TSubstitution - coding silent
PGK1ENSG00000102144ENST00000373316p.K272Ec.814A>GSubstitution - Missense
ACACAENSG00000132142ENST00000360679p.?c.2175+3C>AUnknown
KIF4BENSG00000226650ENST00000435029p.M309Kc.926T>ASubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.E2633Gc.7898A>GSubstitution - Missense
PCDHGA3ENSG00000254245ENST00000253812p.P160Hc.479C>ASubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.S140Ac.418T>GSubstitution - Missense
MAGEC1ENSG00000155495ENST00000285879p.V1018Vc.3054C>ASubstitution - coding silent
RYR1ENSG00000196218ENST00000359596p.F2494Fc.7482C>TSubstitution - coding silent
WDR60ENSG00000126870ENST00000407559p.D389Hc.1165G>CSubstitution - Missense
NCSTNENSG00000162736ENST00000368063p.R414Qc.1241G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.C275Fc.824G>TSubstitution - Missense
TDRD3ENSG00000083544ENST00000377894p.L161Lc.483C>GSubstitution - coding silent
HRH3ENSG00000101180ENST00000340177p.I125Mc.375C>GSubstitution - Missense
ZC3HAV1ENSG00000105939ENST00000242351p.Q620*c.1858C>TSubstitution - Nonsense
KIAA1524ENSG00000163507ENST00000295746p.S469Sc.1407T>ASubstitution - coding silent
SH3TC1ENSG00000125089ENST00000245105p.P343Pc.1029C>GSubstitution - coding silent
NHSL1ENSG00000135540ENST00000342260p.E822Qc.2464G>CSubstitution - Missense
GPR156ENSG00000175697ENST00000315843p.P310Pc.930C>GSubstitution - coding silent
SLC30A8ENSG00000164756ENST00000456015p.G143Ac.428G>CSubstitution - Missense
KIF2BENSG00000141200ENST00000268919p.P11Qc.32C>ASubstitution - Missense
IGFLR1ENSG00000126246ENST00000246532p.G95Rc.283G>ASubstitution - Missense
CTNNA1ENSG00000044115ENST00000302763p.G275*c.823G>TSubstitution - Nonsense
STAG3ENSG00000066923ENST00000426455p.R408Tc.1223G>CSubstitution - Missense
SH2D3CENSG00000095370ENST00000314830p.L215Ic.643C>ASubstitution - Missense
EML3ENSG00000149499ENST00000529309p.R487Wc.1459C>TSubstitution - Missense
ALDH18A1ENSG00000059573ENST00000371224p.E364Qc.1090G>CSubstitution - Missense
PATL1ENSG00000166889ENST00000300146p.Q360Lc.1079A>TSubstitution - Missense
C11orf30ENSG00000158636ENST00000334736p.P1074Pc.3222C>TSubstitution - coding silent
GLYATL1ENSG00000166840ENST00000300079p.S15Tc.43T>ASubstitution - Missense
ATP1A2ENSG00000018625ENST00000361216p.G560Ac.1679G>CSubstitution - Missense
ADCY10ENSG00000143199ENST00000367851p.I384Vc.1150A>GSubstitution - Missense
HORMAD1ENSG00000143452ENST00000361824p.?c.396-4C>AUnknown
ENST00000398860p.V2934Ec.8801T>ASubstitution - Missense
NUBP1ENSG00000103274ENST00000283027p.L168Lc.504C>GSubstitution - coding silent
NTNG1ENSG00000162631ENST00000370074p.P68Tc.202C>ASubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.?c.10295-8C>GUnknown
PTPRBENSG00000127329ENST00000261266p.D1292Hc.3874G>CSubstitution - Missense
ASH1LENSG00000116539ENST00000392403p.S1863*c.5588C>GSubstitution - Nonsense
DUOX1ENSG00000137857ENST00000389037p.Q1534*c.4600C>TSubstitution - Nonsense
SLC1A3ENSG00000079215ENST00000265113p.*543Lc.1628A>TNonstop extension
PLCB2ENSG00000137841ENST00000260402p.H312Yc.934C>TSubstitution - Missense
TAS1R1ENSG00000173662ENST00000333172p.P705Lc.2114C>TSubstitution - Missense
SLC44A5ENSG00000137968ENST00000370855p.C557Fc.1670G>TSubstitution - Missense
PMS1ENSG00000064933ENST00000441310p.R903Ic.2708G>TSubstitution - Missense
LILRA4ENSG00000239961ENST00000291759p.T6Kc.17C>ASubstitution - Missense
BPIENSG00000101425ENST00000262865p.P461Ac.1381C>GSubstitution - Missense
ENST00000334187_v71p.D28Dc.84C>TSubstitution - coding silent
RBL1ENSG00000080839ENST00000373664p.?c.1364-4_1365ATAGAC>TUnknown
ENST00000426869p.T30Kc.89C>ASubstitution - Missense
ROBO2ENSG00000185008ENST00000461745p.R1264Lc.3791G>TSubstitution - Missense
TMPRSS15ENSG00000154646ENST00000284885p.P400Rc.1199C>GSubstitution - Missense
ST8SIA3ENSG00000177511ENST00000324000p.P246Lc.737C>TSubstitution - Missense
NM_003319p.E9632Dc.28896A>TSubstitution - Missense
KIF1AENSG00000130294ENST00000320389p.S408*c.1223C>GSubstitution - Nonsense
ZC3H12DENSG00000178199ENST00000389942p.R42Cc.124C>TSubstitution - Missense
SLC33A1ENSG00000169359ENST00000392845p.I444Tc.1331T>CSubstitution - Missense
ENST00000330166p.L74Pc.221T>CSubstitution - Missense
TBX6ENSG00000149922ENST00000395224p.K433Qc.1297A>CSubstitution - Missense
DZIP1LENSG00000158163ENST00000469243p.P533Ac.1597C>GSubstitution - Missense
RBP2ENSG00000114113ENST00000232217p.R128Sc.382C>ASubstitution - Missense
TYK2ENSG00000105397ENST00000525621p.L903Vc.2707C>GSubstitution - Missense
COL9A1ENSG00000112280ENST00000357250p.?c.1503+7G>TUnknown
ENST00000316490_v65p.E4127Qc.12379G>CSubstitution - Missense
ABCC5ENSG00000114770ENST00000334444p.E758Qc.2272G>CSubstitution - Missense
SH2D3CENSG00000095370ENST00000314830p.L215Ic.643C>ASubstitution - Missense
NSD1ENSG00000165671ENST00000439151p.A1260Sc.3778G>TSubstitution - Missense
CRISP3ENSG00000096006ENST00000433368p.G36Ec.107G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.C275Fc.824G>TSubstitution - Missense
ZNF678ENSG00000181450ENST00000397097p.L83Lc.249G>TSubstitution - coding silent
TDRD3ENSG00000083544ENST00000535286p.L254Lc.762C>GSubstitution - coding silent
DNAJA4ENSG00000140403ENST00000343789p.S113Cc.338C>GSubstitution - Missense
GABRB3ENSG00000166206ENST00000311550p.N138Kc.414C>ASubstitution - Missense
ZNF195ENSG00000005801ENST00000354599p.E332fs*213c.996_1011del16Deletion - Frameshift
EXOC5ENSG00000070367ENST00000413566p.G207Gc.621T>CSubstitution - coding silent
COL24A1ENSG00000171502ENST00000370571p.Q977Hc.2931G>TSubstitution - Missense
CALCRLENSG00000064989ENST00000392370p.L372Lc.1116T>CSubstitution - coding silent
PTPRBENSG00000127329ENST00000334414p.D1510Hc.4528G>CSubstitution - Missense
NUP155ENSG00000113569ENST00000231498p.R1066Qc.3197G>ASubstitution - Missense
SERPINA5ENSG00000188488ENST00000553780p.?c.1038+4G>TUnknown
SLC44A5ENSG00000137968ENST00000370859p.C557Fc.1670G>TSubstitution - Missense
PDE1AENSG00000115252ENST00000435564p.L384Lc.1150C>TSubstitution - coding silent
PSMC6ENSG00000100519ENST00000445930p.A2Vc.5C>TSubstitution - Missense
VSTM2BENSG00000187135ENST00000335523p.A86Ac.258C>TSubstitution - coding silent
NM_017771p.?c.985-9C>TUnknown
SPATA31A6ENSG00000185775ENST00000332857p.Q325Hc.975G>TSubstitution - Missense
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
ADARB1ENSG00000197381ENST00000360697p.K68Nc.204G>CSubstitution - Missense
ARHGAP39ENSG00000147799ENST00000377307p.R797Cc.2389C>TSubstitution - Missense
GRB7ENSG00000141738ENST00000309156p.G314Ac.941G>CSubstitution - Missense
NBEAL1ENSG00000144426ENST00000449802p.?c.3059-2A>TUnknown
STARENSG00000147465ENST00000276449p.N150Nc.450T>CSubstitution - coding silent
ACAA1ENSG00000060971ENST00000333167p.D338Dc.1014C>TSubstitution - coding silent
ZNF619ENSG00000177873ENST00000314686p.N228Tc.683A>CSubstitution - Missense
OR2V2ENSG00000182613ENST00000328275p.R303Tc.908G>CSubstitution - Missense
F8ENSG00000185010ENST00000360256p.D1682Nc.5044G>ASubstitution - Missense
CUL7ENSG00000044090ENST00000265348p.V308Mc.922G>ASubstitution - Missense
RELNENSG00000189056ENST00000343529p.R301Rc.903A>GSubstitution - coding silent
CAND2ENSG00000144712ENST00000456430p.F24Fc.72C>TSubstitution - coding silent
STXBP5LENSG00000145087ENST00000273666p.A125Ac.375C>ASubstitution - coding silent
DZIP1LENSG00000158163ENST00000327532p.P533Ac.1597C>GSubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.R1615Qc.4844G>ASubstitution - Missense
CYP4F31PENSG00000178206ENST00000416266p.T62Tc.186A>TSubstitution - coding silent
COL7A1ENSG00000114270ENST00000328333p.G2638Ec.7913G>ASubstitution - Missense
SUGP2ENSG00000064607ENST00000337018p.G961Rc.2881G>CSubstitution - Missense
TAF2ENSG00000064313ENST00000378164p.S574Fc.1721C>TSubstitution - Missense
GTF3C5ENSG00000148308ENST00000372097p.R239Kc.716G>ASubstitution - Missense
GJC3ENSG00000176402ENST00000312891p.T206Ac.616A>GSubstitution - Missense
PCDHGA3ENSG00000254245ENST00000253812p.P160Tc.478C>ASubstitution - Missense
C6orf163ENSG00000203872ENST00000388923p.E59fs*18c.176_177delAADeletion - Frameshift
SULF2ENSG00000196562ENST00000359930p.A570Dc.1709C>ASubstitution - Missense
USP46ENSG00000109189ENST00000441222p.H169Yc.505C>TSubstitution - Missense
CABIN1ENSG00000099991ENST00000398319p.L1005Fc.3015G>TSubstitution - Missense
ITGB6ENSG00000115221ENST00000283249p.Q40*c.118C>TSubstitution - Nonsense
KNG1ENSG00000113889ENST00000265023p.R308Ic.923G>TSubstitution - Missense
UBR4ENSG00000127481ENST00000375267p.M4294Vc.12880A>GSubstitution - Missense
COL20A1ENSG00000101203ENST00000422202p.D735Vc.2204A>TSubstitution - Missense
FRG2CENSG00000172969ENST00000308062p.E94*c.280G>TSubstitution - Nonsense
MYO5AENSG00000197535ENST00000358212p.L1082Lc.3246G>CSubstitution - coding silent
ILDR1ENSG00000145103ENST00000462014p.S95Yc.284C>ASubstitution - Missense
EPB41L3ENSG00000082397ENST00000544123p.T813Ic.2438C>TSubstitution - Missense
PLECENSG00000178209ENST00000356346p.T3503Ac.10507A>GSubstitution - Missense
STK11ENSG00000118046ENST00000326873p.G56Vc.167G>TSubstitution - Missense
POTEFENSG00000196604ENST00000409914p.G774Cc.2320G>TSubstitution - Missense
CALN1ENSG00000183166ENST00000395275p.R232Qc.695G>ASubstitution - Missense
ENST00000371192p.P598Rc.1793C>GSubstitution - Missense
NUTM2BENSG00000188199ENST00000429828p.A632Ac.1896G>ASubstitution - coding silent
FCRL1ENSG00000163534ENST00000358292p.S271Cc.812C>GSubstitution - Missense
BBS1ENSG00000174483ENST00000318312p.E472Ec.1416G>ASubstitution - coding silent
HABP2ENSG00000148702ENST00000351270p.S56Nc.167G>ASubstitution - Missense
CTSKENSG00000143387ENST00000443913p.?c.176+6C>TUnknown
CTPS1ENSG00000171793ENST00000372621p.S311*c.932C>GSubstitution - Nonsense
FLGENSG00000143631ENST00000368799p.G1591Ec.4772G>ASubstitution - Missense
DISP2ENSG00000140323ENST00000267889p.F155Lc.465C>ASubstitution - Missense
INO80ENSG00000128908ENST00000361937p.?c.4077+3G>AUnknown
OR2T4ENSG00000196944ENST00000366475p.I253fs*8c.757_760ATCC>TCGComplex - frameshift
MSH4ENSG00000057468ENST00000263187p.?c.245-2A>GUnknown
ATMINENSG00000166454ENST00000299575p.R202Sc.606A>CSubstitution - Missense
TVP23CENSG00000175106ENST00000518321p.F42Lc.126C>GSubstitution - Missense
TOP3AENSG00000177302ENST00000321105p.S763Fc.2288C>TSubstitution - Missense
GNASENSG00000087460ENST00000371085p.?c.586-9T>AUnknown
GATA4ENSG00000136574ENST00000335135p.E313Dc.939G>CSubstitution - Missense
ENST00000356906p.L56Lc.168C>GSubstitution - coding silent
COL5A1ENSG00000130635ENST00000371817p.G1540Vc.4619G>TSubstitution - Missense
GRIA1ENSG00000155511ENST00000285900p.?c.460+9A>TUnknown
CNGA2ENSG00000183862ENST00000329903p.E594*c.1780G>TSubstitution - Nonsense
COG5ENSG00000164597ENST00000297135p.G143Ac.428G>CSubstitution - Missense
DERL3ENSG00000099958ENST00000318109p.D96Ec.288C>ASubstitution - Missense
MEGF8ENSG00000105429ENST00000251268p.S242Lc.725C>TSubstitution - Missense
LCP2ENSG00000043462ENST00000046794p.T291Mc.872C>TSubstitution - Missense
TATDN1ENSG00000147687ENST00000276692p.N258Sc.773A>GSubstitution - Missense
KCNQ2ENSG00000075043ENST00000359689p.I115Ic.345C>TSubstitution - coding silent
PLCB4ENSG00000101333ENST00000378473p.N662Nc.1986C>TSubstitution - coding silent
KIF1AENSG00000130294ENST00000498729p.S417*c.1250C>GSubstitution - Nonsense
ENSG00000255622ENST00000539533p.A307Ac.921G>TSubstitution - coding silent
SLITRK5ENSG00000165300ENST00000400028p.V129Lc.385G>TSubstitution - Missense
FAM120AENSG00000048828ENST00000333936p.S798*c.2393C>GSubstitution - Nonsense
SLC9A2ENSG00000115616ENST00000233969p.A276Tc.826G>ASubstitution - Missense
LENG9ENSG00000182909ENST00000333834p.S140Wc.419C>GSubstitution - Missense
SLKENSG00000065613ENST00000369755p.L412Lc.1236C>GSubstitution - coding silent
ZMPSTE24ENSG00000084073ENST00000372759p.F378fs*1c.1132_1136delTTTTADeletion - Frameshift
SU_CRIKp.V1092Ic.3274G>ASubstitution - Missense
PNMA1ENSG00000176903ENST00000316836p.I328Tc.983T>CSubstitution - Missense
KCNC2ENSG00000166006ENST00000549446p.P410Pc.1230T>ASubstitution - coding silent
ATP8B2ENSG00000143515ENST00000368489p.M162Ic.486G>CSubstitution - Missense
ADAM10ENSG00000137845ENST00000260408p.I246Ic.738A>TSubstitution - coding silent
S100A8ENSG00000143546ENST00000368732p.L74Lc.220C>TSubstitution - coding silent
BCL11BENSG00000127152ENST00000357195p.P697Sc.2089C>TSubstitution - Missense
TSHRENSG00000165409ENST00000541158p.A579Ac.1737T>CSubstitution - coding silent
GBP7ENSG00000213512ENST00000294671p.S270Yc.809C>ASubstitution - Missense
DIO3ENSG00000197406ENST00000510508p.L86Lc.258C>GSubstitution - coding silent
FSIP2ENSG00000188738ENST00000343098p.Q1247*c.3739C>TSubstitution - Nonsense
ERC2ENSG00000187672ENST00000288221p.E413Ec.1239G>ASubstitution - coding silent
VWDEENSG00000146530ENST00000275358p.Q1099Ec.3295C>GSubstitution - Missense
VWDEENSG00000146530ENST00000275358p.Q21Lc.62A>TSubstitution - Missense
FAM222BENSG00000173065ENST00000452648p.L25Lc.75T>CSubstitution - coding silent
UMODL1ENSG00000177398ENST00000400424p.V984Vc.2952G>CSubstitution - coding silent
ENST00000355436_v68p.K188Nc.564G>CSubstitution - Missense
SLC39A4ENSG00000147804ENST00000301305p.L140Lc.420G>CSubstitution - coding silent
CALCRENSG00000004948ENST00000394441p.S473Cc.1418C>GSubstitution - Missense
NRIP1ENSG00000180530ENST00000400199p.S572Fc.1715C>TSubstitution - Missense
ABCA6ENSG00000154262ENST00000284425p.?c.2389+9A>GUnknown
SH2B1ENSG00000178188ENST00000322610p.A78Ac.234C>TSubstitution - coding silent
KIAA0556ENSG00000047578ENST00000261588p.R1615Qc.4844G>ASubstitution - Missense
TAF8ENSG00000137413ENST00000372977p.K196Nc.588G>TSubstitution - Missense
CD200R1ENSG00000163606ENST00000308611p.?c.203-9C>TUnknown
GUCY1B3ENSG00000061918ENST00000264424p.?c.1176-1G>CUnknown
ACACAENSG00000132142ENST00000353139p.?c.2460+3C>AUnknown
RNGTTENSG00000111880ENST00000369485p.?c.278+1G>CUnknown
ENST00000316490p.V3339Lc.10015G>CSubstitution - Missense
MYBENSG00000118513ENST00000367814p.I269Vc.805A>GSubstitution - Missense
VSTM2AENSG00000170419ENST00000402026p.S162Lc.485C>TSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
MED15ENSG00000099917ENST00000263205p.L690Lc.2070G>CSubstitution - coding silent
CRISP3ENSG00000096006ENST00000263045p.?c.72+8T>GUnknown
EML5ENSG00000165521ENST00000352093p.?c.5760-9T>CUnknown
EML2ENSG00000125746ENST00000536630p.M179Ic.537G>ASubstitution - Missense
UBR2ENSG00000024048ENST00000372883p.G4*c.10G>TSubstitution - Nonsense
MLNRENSG00000102539ENST00000398307p.L89Lc.267C>TSubstitution - coding silent
OR10J1ENSG00000196184ENST00000423932p.C123*c.369C>ASubstitution - Nonsense
STAB2ENSG00000136011ENST00000388887p.M566Ic.1698G>TSubstitution - Missense
NELL2ENSG00000184613ENST00000437801p.N768Nc.2304T>CSubstitution - coding silent
STAB2ENSG00000136011ENST00000388887p.D2214Hc.6640G>CSubstitution - Missense
MSRB1ENSG00000198736ENST00000361871p.A45Ac.135G>CSubstitution - coding silent
KCNC2ENSG00000166006ENST00000298972p.P410Pc.1230T>ASubstitution - coding silent
YY1AP1ENSG00000163374ENST00000368339p.L127Lc.381C>TSubstitution - coding silent
SYNE2ENSG00000054654ENST00000358025p.D3131Yc.9391G>TSubstitution - Missense
CNTNAP4ENSG00000152910ENST00000478060p.E601Dc.1803G>CSubstitution - Missense
LMOD3ENSG00000163380ENST00000420581p.Q537*c.1609C>TSubstitution - Nonsense
NCAM2ENSG00000154654ENST00000400546p.L266Lc.798C>TSubstitution - coding silent
ENST00000418096p.G250Ac.749G>CSubstitution - Missense
MGAMENSG00000257335ENST00000549489p.W1531Cc.4593G>TSubstitution - Missense
NM_000933.2p.N650Nc.1950C>TSubstitution - coding silent
PRKDCENSG00000253729ENST00000314191p.D2072Ec.6216C>ASubstitution - Missense
NLRP4ENSG00000160505ENST00000301295p.R886Rc.2656C>ASubstitution - coding silent
ZSCAN5BENSG00000197213ENST00000358992p.L141Lc.423G>ASubstitution - coding silent
REV1ENSG00000135945ENST00000258428p.R622Tc.1865G>CSubstitution - Missense
RFC2ENSG00000049541ENST00000055077p.G330Gc.990A>TSubstitution - coding silent
ITGB5ENSG00000082781ENST00000296181p.C528Fc.1583G>TSubstitution - Missense
SMPD4ENSG00000136699ENST00000409031p.I161Ic.483C>TSubstitution - coding silent
ILDR1ENSG00000145103ENST00000273691p.S83Yc.248C>ASubstitution - Missense
FBLN2ENSG00000163520ENST00000492059p.P196Pc.588C>TSubstitution - coding silent
ERLEC1ENSG00000068912ENST00000185150p.Q184Hc.552G>CSubstitution - Missense
ZNF786ENSG00000197362ENST00000491431p.D133Nc.397G>ASubstitution - Missense
ZNF569ENSG00000196437ENST00000316950p.S563Lc.1688C>TSubstitution - Missense
RADILENSG00000157927ENST00000399583p.?c.1966+9C>TUnknown
EPHA1ENSG00000146904ENST00000275815p.R351Cc.1051C>TSubstitution - Missense
ENST00000342288p.L1234Lc.3702C>ASubstitution - coding silent
PSG11ENSG00000243130ENST00000401740p.Q194Lc.581A>TSubstitution - Missense
MARCH1ENSG00000145416ENST00000503008p.I94Ic.282C>TSubstitution - coding silent
MARCH1ENSG00000145416ENST00000339875p.I77Ic.231C>TSubstitution - coding silent
ADARB2ENSG00000185736ENST00000381310p.P239Qc.716C>ASubstitution - Missense
CLIP1ENSG00000130779ENST00000540338p.Q86Hc.258G>TSubstitution - Missense
KIF1AENSG00000130294ENST00000498729p.R355Hc.1064G>ASubstitution - Missense
TP53ENSG00000141510ENST00000420246p.?c.560-1G>CUnknown
DIAPH2ENSG00000147202ENST00000373049p.I298Vc.892A>GSubstitution - Missense
PWWP2BENSG00000171813ENST00000305233p.P50Pc.150G>TSubstitution - coding silent
RYR2ENSG00000198626ENST00000366574p.F1544fs*17c.4628delTDeletion - Frameshift
PATL1ENSG00000166889ENST00000300146p.Q360Lc.1079A>TSubstitution - Missense
ENST00000374536p.S317*c.950C>GSubstitution - Nonsense
PLCH2ENSG00000149527ENST00000378486p.T329Mc.986C>TSubstitution - Missense
CTTNENSG00000085733ENST00000376561p.?c.1778+8C>GUnknown
TM7SF2ENSG00000149809ENST00000279263p.?c.499+3G>CUnknown
RHBDL2ENSG00000158315ENST00000289248p.R59*c.175C>TSubstitution - Nonsense
CEP164ENSG00000110274ENST00000278935p.S1096Fc.3287C>TSubstitution - Missense
FBN1ENSG00000166147ENST00000316623p.I849Mc.2547C>GSubstitution - Missense
FAM179BENSG00000198718ENST00000361577p.A1590Ac.4770G>TSubstitution - coding silent
NPAS3ENSG00000151322ENST00000356141p.D89Hc.265G>CSubstitution - Missense
SRP14ENSG00000140319ENST00000267884p.L57Vc.169C>GSubstitution - Missense
DOCK7ENSG00000116641ENST00000340370p.D454Yc.1360G>TSubstitution - Missense
NAB1ENSG00000138386ENST00000409581p.T473Sc.1417A>TSubstitution - Missense
COL4A6ENSG00000197565ENST00000334504p.G866Dc.2597G>ASubstitution - Missense
PLEKHJ1ENSG00000104886ENST00000326631p.H87Rc.260A>GSubstitution - Missense
IL1RAPL2ENSG00000189108ENST00000372582p.Y41Cc.122A>GSubstitution - Missense
CHRNA2ENSG00000120903ENST00000407991p.S488Lc.1463C>TSubstitution - Missense
ANKRD36ENSG00000135976ENST00000420699p.K178Nc.534A>TSubstitution - Missense
ENST00000355436p.K188Nc.564G>CSubstitution - Missense
PLECENSG00000178209ENST00000436759p.T3544Ac.10630A>GSubstitution - Missense
TONSLENSG00000160949ENST00000409379p.T104Rc.311C>GSubstitution - Missense
CACNG8ENSG00000142408ENST00000270458p.S201Sc.603G>TSubstitution - coding silent
REV1ENSG00000135945ENST00000258428p.T133Ac.397A>GSubstitution - Missense
TEPPENSG00000159648ENST00000290871p.Q85Kc.253C>ASubstitution - Missense
SCRN1ENSG00000136193ENST00000242059p.I187Tc.560T>CSubstitution - Missense
ENST00000378986p.L122Lc.364C>TSubstitution - coding silent
PTPN4ENSG00000088179ENST00000263708p.V57Vc.171C>TSubstitution - coding silent
FOXP4ENSG00000137166ENST00000373060p.L601Lc.1803G>TSubstitution - coding silent
FOXP4ENSG00000137166ENST00000373063p.L588Lc.1764G>TSubstitution - coding silent
CELSR1ENSG00000075275ENST00000262738p.G1424Gc.4272C>TSubstitution - coding silent
FOXL2ENSG00000183770ENST00000330315p.K150fs*82c.449_468del20Deletion - Frameshift
LUC7L3ENSG00000108848ENST00000505658p.?c.167-5C>GUnknown
COL12A1ENSG00000111799ENST00000322507p.?c.6607+7C>GUnknown
LRRIQ4ENSG00000188306ENST00000340806p.L469Pc.1406T>CSubstitution - Missense
ENST00000544403p.?c.460+9A>TUnknown
CXorf66ENSG00000203933ENST00000370540p.A99Ac.297C>ASubstitution - coding silent
KIAA1671ENSG00000197077ENST00000358431p.S993Cc.2978C>GSubstitution - Missense
KLHL22ENSG00000099910ENST00000328879p.S632Ic.1895G>TSubstitution - Missense
GRK6ENSG00000198055ENST00000355472p.S383Sc.1149G>TSubstitution - coding silent
MYOM3ENSG00000142661ENST00000329601p.H163Hc.489C>TSubstitution - coding silent
PTPRSENSG00000105426ENST00000372412p.L1647Lc.4941G>TSubstitution - coding silent
TM6SF1ENSG00000136404ENST00000322019p.L212Lc.636G>ASubstitution - coding silent
DIEXFENSG00000117597ENST00000491415p.E90delc.268_270delGAGDeletion - In frame
IGFALSENSG00000099769ENST00000215539p.S87Lc.260C>TSubstitution - Missense
OR1S1ENSG00000172774ENST00000309433p.T158Kc.473C>ASubstitution - Missense
OR2T33ENSG00000177212ENST00000318021p.V245Vc.735G>ASubstitution - coding silent
CELA3BENSG00000219073ENST00000337107p.D106Nc.316G>ASubstitution - Missense
ENST00000371192_v61p.P598Rc.1793C>GSubstitution - Missense
SIN3AENSG00000169375ENST00000394947p.L380Lc.1138C>TSubstitution - coding silent
PARP6ENSG00000137817ENST00000287196p.S443Pc.1327T>CSubstitution - Missense
HNRNPUL2ENSG00000214753ENST00000301785p.D262Hc.784G>CSubstitution - Missense
BTBD6ENSG00000184887ENST00000392554p.K254Rc.761A>GSubstitution - Missense
ADAMTS8ENSG00000134917ENST00000257359p.P464Hc.1391C>ASubstitution - Missense
ENST00000414575p.P493Hc.1478C>ASubstitution - Missense
NUF2ENSG00000143228ENST00000271452p.V366Fc.1096G>TSubstitution - Missense
SLC8B1ENSG00000089060ENST00000202831p.N310Sc.929A>GSubstitution - Missense
ENST00000450269_v68p.R46Wc.136C>TSubstitution - Missense
OR2L8ENSG00000196936ENST00000357191p.I288Mc.864C>GSubstitution - Missense
GLT1D1ENSG00000151948ENST00000281703p.Y65Fc.194A>TSubstitution - Missense
PPP4R4ENSG00000119698ENST00000304338p.S518Sc.1554A>CSubstitution - coding silent
ARID1AENSG00000117713ENST00000324856p.H684Dc.2050C>GSubstitution - Missense
ENST00000360678p.?c.1038+4G>TUnknown
RALGAPA2ENSG00000188559ENST00000202677p.L1687Lc.5061C>GSubstitution - coding silent
KCNG1ENSG00000026559ENST00000371571p.P412Pc.1236T>GSubstitution - coding silent
SS18L1ENSG00000184402ENST00000421564p.T111Mc.332C>TSubstitution - Missense
GREB1LENSG00000141449ENST00000424526p.E1185Qc.3553G>CSubstitution - Missense
BHLHA15ENSG00000180535ENST00000314018p.A107fs*>83c.315_316delGCDeletion - Frameshift
TTNENSG00000155657ENST00000342175p.G19859Gc.59577T>CSubstitution - coding silent
MYH15ENSG00000144821ENST00000273353p.E1061Vc.3182A>TSubstitution - Missense
EIF5BENSG00000158417ENST00000289371p.D598Hc.1792G>CSubstitution - Missense
ZNF174ENSG00000103343ENST00000344823p.L230Lc.690G>ASubstitution - coding silent
COG1ENSG00000166685ENST00000299886p.Q254*c.760C>TSubstitution - Nonsense
CFIENSG00000205403ENST00000394634p.N535Nc.1605C>TSubstitution - coding silent
GTSE1ENSG00000075218ENST00000454366p.E85Dc.255G>CSubstitution - Missense
SP100ENSG00000067066ENST00000264052p.E644Qc.1930G>CSubstitution - Missense
OBSL1ENSG00000124006ENST00000404537p.K514Nc.1542G>CSubstitution - Missense
TFDP2ENSG00000114126ENST00000489671p.A398Pc.1192G>CSubstitution - Missense
RPS23ENSG00000186468ENST00000296674p.Q26Ec.76C>GSubstitution - Missense
UTYENSG00000183878ENST00000540140p.E61Qc.181G>CSubstitution - Missense
PABPC5ENSG00000174740ENST00000312600p.A18Ac.54C>ASubstitution - coding silent
PDGFRBENSG00000113721ENST00000261799p.P345Qc.1034C>ASubstitution - Missense
ZNF292ENSG00000188994ENST00000339907p.E42*c.124G>TSubstitution - Nonsense
COPS6ENSG00000168090ENST00000303904p.P164Pc.492T>GSubstitution - coding silent
CRISP3ENSG00000096006ENST00000263045p.G13Ec.38G>ASubstitution - Missense
SCN1AENSG00000144285ENST00000423058p.H469Lc.1406A>TSubstitution - Missense
MAP3K11ENSG00000173327ENST00000309100p.Q577Hc.1731G>CSubstitution - Missense
SVILENSG00000197321ENST00000355867p.R838Tc.2513G>CSubstitution - Missense
ANKRD30AENSG00000148513ENST00000361713p.H1227Hc.3681T>CSubstitution - coding silent
GRAMD1BENSG00000023171ENST00000322282p.D526Ac.1577A>CSubstitution - Missense
PLEKHA5ENSG00000052126ENST00000299275p.G61Gc.183C>TSubstitution - coding silent
DHX32ENSG00000089876ENST00000284690p.E7Kc.19G>ASubstitution - Missense
KCNC4ENSG00000116396ENST00000369787p.S510Pc.1528T>CSubstitution - Missense
GPR61ENSG00000156097ENST00000404129p.V145Ac.434T>CSubstitution - Missense
VRK1ENSG00000100749ENST00000216639p.A20Ac.60A>TSubstitution - coding silent
PRMT8ENSG00000111218ENST00000452611p.A321Vc.962C>TSubstitution - Missense
TGENSG00000042832ENST00000220616p.A2151Ac.6453T>GSubstitution - coding silent
FAM193AENSG00000125386ENST00000324666p.V842Ic.2524G>ASubstitution - Missense
PTPRTENSG00000196090ENST00000373184p.?c.1451-6C>TUnknown
TACC1ENSG00000147526ENST00000379931p.S509Cc.1526C>GSubstitution - Missense
OR5B12ENSG00000172362ENST00000302572p.K301Nc.903G>TSubstitution - Missense
ARHGEF5ENSG00000050327ENST00000056217p.P820Pc.2460G>ASubstitution - coding silent
RBP4ENSG00000138207ENST00000371467p.A18Ac.54G>ASubstitution - coding silent
TRIM17ENSG00000162931ENST00000366697p.L80Lc.240G>ASubstitution - coding silent
KLHL25ENSG00000183655ENST00000337975p.A288Ac.864C>TSubstitution - coding silent
ZNF605ENSG00000196458ENST00000360187p.?c.137-1G>CUnknown
SORCS3ENSG00000156395ENST00000369701p.V914Lc.2740G>TSubstitution - Missense
MYOM3ENSG00000142661ENST00000374434p.H163Hc.489C>TSubstitution - coding silent
GBF1ENSG00000107862ENST00000369983p.T184Ic.551C>TSubstitution - Missense
ATP1A2ENSG00000018625ENST00000361216p.?c.2116-5T>CUnknown
UBR4ENSG00000127481ENST00000375254p.M4294Vc.12880A>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S7839Cc.23516C>GSubstitution - Missense
EMILIN2ENSG00000132205ENST00000254528p.L555Pc.1664T>CSubstitution - Missense
LAMA3ENSG00000053747ENST00000313654p.L1840Lc.5520C>GSubstitution - coding silent
BRIP1ENSG00000136492ENST00000259008p.T104Ic.311C>TSubstitution - Missense
AGPAT3ENSG00000160216ENST00000398058p.G368*c.1102G>TSubstitution - Nonsense
TIAM1ENSG00000156299ENST00000286827p.?c.4045+10C>TUnknown
SERPINB4ENSG00000206073ENST00000341074p.S130Ic.389G>TSubstitution - Missense
EPB41L3ENSG00000082397ENST00000341928p.A880Sc.2638G>TSubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.?c.3207-10C>AUnknown
TM9SF4ENSG00000101337ENST00000217315p.I583Ic.1749C>TSubstitution - coding silent
CPOXENSG00000080819ENST00000264193p.R142Rc.426A>GSubstitution - coding silent
TPTEENSG00000166157ENST00000298232p.L390Lc.1170C>TSubstitution - coding silent
NM_206943.1p.Y1574Yc.4722T>CSubstitution - coding silent
DYSFENSG00000135636ENST00000410020p.K589Nc.1767G>TSubstitution - Missense
ENST00000403458_v68p.?c.333-9C>GUnknown
CHN2ENSG00000106069ENST00000539406p.D204Hc.610G>CSubstitution - Missense
CACNA2D1ENSG00000153956ENST00000356860p.T505Tc.1515A>TSubstitution - coding silent
PHLDB2ENSG00000144824ENST00000431670p.E1232Ac.3695A>CSubstitution - Missense
ZNF189ENSG00000136870ENST00000339664p.V84Ic.250G>ASubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.?c.12472-4C>GUnknown
ENST00000400460p.T9Mc.26C>TSubstitution - Missense
MAGEC1ENSG00000155495ENST00000285879p.S940_I1009del70c.2813_3022del210Deletion - In frame
CHERPENSG00000085872ENST00000546361p.F612Fc.1836C>TSubstitution - coding silent
GHRENSG00000112964ENST00000230882p.E71Kc.211G>ASubstitution - Missense
RGS3ENSG00000138835ENST00000317613p.S562*c.1685C>GSubstitution - Nonsense
OR5M8ENSG00000181371ENST00000327216p.A179Vc.536C>TSubstitution - Missense
ENST00000263187_v70p.?c.245-2A>GUnknown
POTEJENSG00000222038ENST00000409602p.R691Wc.2071C>TSubstitution - Missense
CALN1ENSG00000183166ENST00000329008p.R190Qc.569G>ASubstitution - Missense
SP1ENSG00000185591ENST00000327443p.P169Pc.507T>CSubstitution - coding silent
ITIH2ENSG00000151655ENST00000358415p.K207Rc.620A>GSubstitution - Missense
TRIM17ENSG00000162931ENST00000456946p.L80Lc.240G>ASubstitution - coding silent
DHRS1ENSG00000157379ENST00000396813p.V281Ic.841G>ASubstitution - Missense
SUPT16HENSG00000092201ENST00000216297p.R1036Tc.3107G>CSubstitution - Missense
ZFHX2ENSG00000136367ENST00000419474p.P550Sc.1648C>TSubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.G1188Ec.3563G>ASubstitution - Missense
CLEC2AENSG00000188393ENST00000455827p.R17Wc.49C>TSubstitution - Missense
DHX9ENSG00000135829ENST00000367549p.P797Rc.2390C>GSubstitution - Missense
FUT8ENSG00000033170ENST00000394585p.Q330*c.988C>TSubstitution - Nonsense
LIFRENSG00000113594ENST00000263409p.T343Tc.1029A>TSubstitution - coding silent
RBM39ENSG00000131051ENST00000253363p.R124Hc.371G>ASubstitution - Missense
PXKENSG00000168297ENST00000356151p.?c.985-9C>TUnknown
WDR19ENSG00000157796ENST00000399820p.D473Nc.1417G>ASubstitution - Missense
SERPINB4ENSG00000206073ENST00000341074p.?c.469+4G>CUnknown
PAPSS1ENSG00000138801ENST00000265174p.L257Lc.769C>TSubstitution - coding silent
ENST00000291011p.P123Pc.369C>GSubstitution - coding silent
ENSG00000163075ENST00000295220p.K121Ec.361A>GSubstitution - Missense
SRRTENSG00000087087ENST00000347433p.E400fs*24c.1180_1181ins13Insertion - Frameshift
SH2B1ENSG00000178188ENST00000359285p.A78Ac.234C>TSubstitution - coding silent
AGBL1ENSG00000166748ENST00000441037p.S180Sc.540C>TSubstitution - coding silent
CTAGE5ENSG00000150527ENST00000341502p.N373Ic.1118A>TSubstitution - Missense
NKD2ENSG00000145506ENST00000537972p.F128Ic.382T>ASubstitution - Missense
ENST00000539533_v68p.A307Ac.921G>TSubstitution - coding silent
GRK6ENSG00000198055ENST00000528793p.S383Sc.1149G>TSubstitution - coding silent
MTHFD1LENSG00000120254ENST00000453602p.E12*c.34G>TSubstitution - Nonsense
MYBENSG00000118513ENST00000316528p.I269Vc.805A>GSubstitution - Missense
TAF8ENSG00000137413ENST00000456846p.K196Nc.588G>TSubstitution - Missense
COL9A1ENSG00000112280ENST00000370499p.?c.774+7G>TUnknown
DOCK4ENSG00000128512ENST00000494651p.L120Lc.360C>ASubstitution - coding silent
PPP1R3AENSG00000154415ENST00000284601p.S950Lc.2849C>TSubstitution - Missense
PPP1R3AENSG00000154415ENST00000284601p.G473*c.1417G>TSubstitution - Nonsense
POM121ENSG00000196313ENST00000434423p.A1020Vc.3059C>TSubstitution - Missense
POM121ENSG00000196313ENST00000434423p.A866Ac.2598G>ASubstitution - coding silent
TNS3ENSG00000136205ENST00000442536p.L76Lc.228C>GSubstitution - coding silent
GAL3ST4ENSG00000197093ENST00000360039p.G385Sc.1153G>ASubstitution - Missense
CACNA2D1ENSG00000153956ENST00000356253p.T505Tc.1515A>TSubstitution - coding silent
PLECENSG00000178209ENST00000354589p.T3517Ac.10549A>GSubstitution - Missense
TACC1ENSG00000147526ENST00000443286p.S513Cc.1538C>GSubstitution - Missense
XPO7ENSG00000130227ENST00000434536p.E12Kc.34G>ASubstitution - Missense
XPO7ENSG00000130227ENST00000433566p.E13Kc.37G>ASubstitution - Missense
SH2D3CENSG00000095370ENST00000373276p.L147Ic.439C>ASubstitution - Missense
SH2D3CENSG00000095370ENST00000414380p.L32Ic.94C>ASubstitution - Missense
GTF3C5ENSG00000148308ENST00000372095p.R114Kc.341G>ASubstitution - Missense
NFX1ENSG00000086102ENST00000318524p.E701Qc.2101G>CSubstitution - Missense
GNASENSG00000087460ENST00000371085p.Q227Lc.680A>TSubstitution - Missense
SLC9B1P1ENSG00000183704ENST00000331172p.G230Vc.689G>TSubstitution - Missense
UTYENSG00000183878ENST00000329134p.E61Qc.181G>CSubstitution - Missense
UTYENSG00000183878ENST00000382896p.E61Qc.181G>CSubstitution - Missense
DIAPH2ENSG00000147202ENST00000373049p.?c.448-3T>CUnknown
TP53ENSG00000141510ENST00000455263p.C275Fc.824G>TSubstitution - Missense
SLITRK5ENSG00000165300ENST00000325089p.I556Vc.1666A>GSubstitution - Missense
PLEKHA5ENSG00000052126ENST00000429027p.G61Gc.183C>TSubstitution - coding silent
ENST00000317359p.L74Mc.220C>ASubstitution - Missense
ENSG00000187811ENST00000343767p.H41Yc.121C>TSubstitution - Missense
VWCEENSG00000167992ENST00000335613p.?c.1582-4C>GUnknown
EPYCENSG00000083782ENST00000261172p.S97Fc.290C>TSubstitution - Missense
ARHGEF2ENSG00000116584ENST00000313695p.R272Lc.815G>TSubstitution - Missense
DENND4AENSG00000174485ENST00000431932p.A1585Tc.4753G>ASubstitution - Missense
NRXN3ENSG00000021645ENST00000335750p.V602Vc.1806G>TSubstitution - coding silent
CLCA4ENSG00000016602ENST00000370563p.Q485Kc.1453C>ASubstitution - Missense
C1orf200ENSG00000179840ENST00000377320p.W161Cc.483G>CSubstitution - Missense
PLCB2ENSG00000137841ENST00000260402p.H312Yc.934C>TSubstitution - Missense
GPRASP2ENSG00000158301ENST00000543253p.G199Ac.596G>CSubstitution - Missense
SS18L1ENSG00000184402ENST00000370848p.T114Mc.341C>TSubstitution - Missense
GNASENSG00000087460ENST00000371100p.?c.2515-9T>AUnknown
ICOSENSG00000163600ENST00000316386p.Y127Yc.381T>CSubstitution - coding silent
DLX2ENSG00000115844ENST00000234198p.A94Ac.282C>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.E16129Vc.48386A>TSubstitution - Missense
ENST00000356127p.E16127Vc.48380A>TSubstitution - Missense
FRAS1ENSG00000138759ENST00000325942p.E1973Qc.5917G>CSubstitution - Missense
GLOD4ENSG00000167699ENST00000301329p.?c.91-3C>TUnknown
ZNF135ENSG00000176293ENST00000401053p.E38Dc.114G>CSubstitution - Missense
ZNF92ENSG00000146757ENST00000328747p.N39Ic.116A>TSubstitution - Missense
PHLDB2ENSG00000144824ENST00000412622p.E1189Ac.3566A>CSubstitution - Missense
SH2B1ENSG00000178188ENST00000337120p.A78Ac.234C>TSubstitution - coding silent
HDAC10ENSG00000100429ENST00000216271p.V146Lc.436G>CSubstitution - Missense
COL19A1ENSG00000082293ENST00000322773p.I556Fc.1666A>TSubstitution - Missense
RABEP1ENSG00000029725ENST00000262477p.?c.528+8G>AUnknown
LAMA2ENSG00000196569ENST00000421865p.I1849Mc.5547C>GSubstitution - Missense
RHOT1ENSG00000126858ENST00000358365p.S479Lc.1436C>TSubstitution - Missense
IMPG1ENSG00000112706ENST00000369950p.I348Fc.1042A>TSubstitution - Missense
PCDHGA3ENSG00000254245ENST00000253812p.P131Hc.392C>ASubstitution - Missense
CMTR2ENSG00000180917ENST00000338099p.T173Tc.519T>GSubstitution - coding silent
LCP2ENSG00000043462ENST00000046794p.T291Mc.872C>TSubstitution - Missense
NSD1ENSG00000165671ENST00000439151p.A1260Sc.3778G>TSubstitution - Missense
TSPAN17ENSG00000048140ENST00000508164p.L93Lc.279C>TSubstitution - coding silent
CDHR2ENSG00000074276ENST00000261944p.I744Ic.2232C>TSubstitution - coding silent
SEPP1ENSG00000250722ENST00000514985p.V123Ac.368T>CSubstitution - Missense
ZNF454ENSG00000178187ENST00000320129p.R283Rc.849A>GSubstitution - coding silent
STK19ENSG00000204344ENST00000375333p.?c.816-3C>GUnknown
GLYATL3ENSG00000203972ENST00000371197p.K80Nc.240G>TSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.C275Fc.824G>TSubstitution - Missense
TRIOBPENSG00000100106ENST00000406386p.A1544Ac.4632G>ASubstitution - coding silent
PWWP2BENSG00000171813ENST00000368609p.P50Pc.150G>TSubstitution - coding silent
B3GAT1ENSG00000109956ENST00000537389p.R74Gc.220C>GSubstitution - Missense
MMP26ENSG00000167346ENST00000380390p.L57Lc.171C>TSubstitution - coding silent
OR5AP2ENSG00000172464ENST00000302981p.L193Fc.577C>TSubstitution - Missense
OR8H3ENSG00000181761ENST00000313472p.I145Ic.435C>TSubstitution - coding silent
OR10AG1ENSG00000174970ENST00000312345p.F19Sc.56T>CSubstitution - Missense
GLT1D1ENSG00000151948ENST00000442111p.Y65Fc.194A>TSubstitution - Missense
VDRENSG00000111424ENST00000535672p.S155*c.464C>GSubstitution - Nonsense
VDRENSG00000111424ENST00000535672p.?c.367-9C>GUnknown
VDRENSG00000111424ENST00000535672p.?c.366+7C>GUnknown
NELL2ENSG00000184613ENST00000395487p.N717Nc.2151T>CSubstitution - coding silent
GRIP1ENSG00000155974ENST00000359742p.A1108Tc.3322G>ASubstitution - Missense
NTNG1ENSG00000162631ENST00000542803p.P68Tc.202C>ASubstitution - Missense
RPS27ENSG00000177954ENST00000392558p.E40Kc.118G>ASubstitution - Missense
FHAD1ENSG00000142621ENST00000358897p.K781Nc.2343G>CSubstitution - Missense
C1orf61ENSG00000125462ENST00000357975p.R69Rc.207G>TSubstitution - coding silent
ARHGEF2ENSG00000116584ENST00000361247p.R300Lc.899G>TSubstitution - Missense
ARHGEF2ENSG00000116584ENST00000368315p.R301Lc.902G>TSubstitution - Missense
ZNF124ENSG00000196418ENST00000543802p.G342Ac.1025G>CSubstitution - Missense
MYOM3ENSG00000142661ENST00000338909p.V84Gc.251T>GSubstitution - Missense
DOCK7ENSG00000116641ENST00000404627p.D454Yc.1360G>TSubstitution - Missense
NFIAENSG00000162599ENST00000371191p.E171Vc.512A>TSubstitution - Missense
WDR78ENSG00000152763ENST00000371023p.E368*c.1102G>TSubstitution - Nonsense
DOCK7ENSG00000116641ENST00000251157p.D454Yc.1360G>TSubstitution - Missense
WDR25ENSG00000176473ENST00000542471p.?c.200-6T>CUnknown
CLCA4ENSG00000016602ENST00000263723p.Q198Kc.592C>ASubstitution - Missense
NPAS3ENSG00000151322ENST00000341321p.D89Hc.265G>CSubstitution - Missense
ENST00000392554_v70p.K329Rc.986A>GSubstitution - Missense
CTAGE5ENSG00000150527ENST00000341749p.N361Ic.1082A>TSubstitution - Missense
DUOX1ENSG00000137857ENST00000561166p.Q1180*c.3538C>TSubstitution - Nonsense
AGBL1ENSG00000166748ENST00000389298p.K321Ec.961A>GSubstitution - Missense
APOBRENSG00000184730ENST00000564831p.G306Sc.916G>ASubstitution - Missense
IGFALSENSG00000099769ENST00000415638p.S125Lc.374C>TSubstitution - Missense
GRB7ENSG00000141738ENST00000445327p.G337Ac.1010G>CSubstitution - Missense
EPB41L3ENSG00000082397ENST00000542146p.A185Sc.553G>TSubstitution - Missense
MAPRE2ENSG00000166974ENST00000588910p.K102Kc.306G>ASubstitution - coding silent
EPB41L3ENSG00000082397ENST00000542146p.T287Ic.860C>TSubstitution - Missense
EPB41L3ENSG00000082397ENST00000544123p.A711Sc.2131G>TSubstitution - Missense
ENST00000326873_v70p.G56Vc.167G>TSubstitution - Missense
SUGP2ENSG00000064607ENST00000452918p.G961Rc.2881G>CSubstitution - Missense
SUGP2ENSG00000064607ENST00000456085p.G730Rc.2188G>CSubstitution - Missense
ZNF283ENSG00000167637ENST00000310738p.Q48Ec.142C>GSubstitution - Missense
ZNF566ENSG00000186017ENST00000454319p.R304*c.910A>TSubstitution - Nonsense
TM9SF4ENSG00000101337ENST00000398022p.I600Ic.1800C>TSubstitution - coding silent
DIDO1ENSG00000101191ENST00000395335p.E707Gc.2120A>GSubstitution - Missense
PDE1AENSG00000115252ENST00000409365p.L368Lc.1102C>TSubstitution - coding silent
DOCK10ENSG00000135905ENST00000409592p.L1024Vc.3070C>GSubstitution - Missense
OBSL1ENSG00000124006ENST00000373873p.K514Nc.1542G>CSubstitution - Missense
KIAA1407ENSG00000163617ENST00000545063p.Q187*c.559C>TSubstitution - Nonsense
CEP63ENSG00000182923ENST00000354446p.S387Sc.1161C>TSubstitution - coding silent
ENST00000314583_v70p.R236Lc.707G>TSubstitution - Missense
SMARCC2ENSG00000139613ENST00000394023p.N511fs*178c.1528_1529insTTInsertion - Frameshift
SLITRK5ENSG00000165300ENST00000400028p.I315Vc.943A>GSubstitution - Missense
AGBL1ENSG00000166748ENST00000441037p.K590Ec.1768A>GSubstitution - Missense
HLFENSG00000108924ENST00000226067p.L126Ic.376C>ASubstitution - Missense
RABEP1ENSG00000029725ENST00000262477p.Q595*c.1783C>TSubstitution - Nonsense
KIRREL2ENSG00000126259ENST00000360202p.Y50Hc.148T>CSubstitution - Missense
KIRREL2ENSG00000126259ENST00000262625p.Y50Hc.148T>CSubstitution - Missense
ZBTB32ENSG00000011590ENST00000392197p.Q293Hc.879G>CSubstitution - Missense
ENSG00000272333ENST00000222270p.R610Cc.1828C>TSubstitution - Missense
ZNF566ENSG00000186017ENST00000434377p.R303*c.907A>TSubstitution - Nonsense
SYNE4ENSG00000181392ENST00000324444p.T42Tc.126G>ASubstitution - coding silent
SLITRK3ENSG00000121871ENST00000241274p.R861Gc.2581C>GSubstitution - Missense
PRKCIENSG00000163558ENST00000295797p.K494Nc.1482G>CSubstitution - Missense
MYNNENSG00000085274ENST00000349841p.Q541Hc.1623G>CSubstitution - Missense
ZMAT3ENSG00000172667ENST00000311417p.E42Qc.124G>CSubstitution - Missense
LARSENSG00000133706ENST00000394434p.R850Qc.2549G>ASubstitution - Missense
TRIOENSG00000038382ENST00000344204p.D801Yc.2401G>TSubstitution - Missense
SNAPC4ENSG00000165684ENST00000298532p.P1144Lc.3431C>TSubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.E738Dc.2214G>CSubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.E738Dc.2214G>CSubstitution - Missense
CAPN12ENSG00000182472ENST00000328867p.Q570Ec.1708C>GSubstitution - Missense
GPR112ENSG00000156920ENST00000394143p.S1406Sc.4218T>ASubstitution - coding silent
DNAH5ENSG00000039139ENST00000265104p.K2244Mc.6731A>TSubstitution - Missense
LRRTM2ENSG00000146006ENST00000274711p.S85Rc.255T>GSubstitution - Missense
PCDHB8ENSG00000120322ENST00000239444p.V133Gc.398T>GSubstitution - Missense
PCDHGA3ENSG00000254245ENST00000253812p.P131Tc.391C>ASubstitution - Missense
SLC25A2ENSG00000120329ENST00000239451p.I160Mc.480C>GSubstitution - Missense
KIF4BENSG00000226650ENST00000435029p.M309Kc.926T>ASubstitution - Missense
GABRB2ENSG00000145864ENST00000353437p.D67Dc.201C>TSubstitution - coding silent
HIST1H2ALENSG00000198374ENST00000357320p.V55Lc.163G>TSubstitution - Missense
ENST00000539307p.S177Ac.529T>GSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S140Ac.418T>GSubstitution - Missense
DOCK4ENSG00000128512ENST00000437633p.L1237Lc.3711C>ASubstitution - coding silent
DOCK4ENSG00000128512ENST00000437633p.R1082Wc.3244C>TSubstitution - Missense
ENST00000342288p.R1070Wc.3208C>TSubstitution - Missense
DLDENSG00000091140ENST00000205402p.P458Ac.1372C>GSubstitution - Missense
DLDENSG00000091140ENST00000205402p.P458Ac.1372C>GSubstitution - Missense
NM_002711.2p.S950Lc.2849C>TSubstitution - Missense
NM_002711.2p.G473*c.1417G>TSubstitution - Nonsense
OR6B1ENSG00000221813ENST00000408922p.V49Lc.145G>TSubstitution - Missense
TNS3ENSG00000136205ENST00000311160p.L76Lc.228C>GSubstitution - coding silent
VSTM2AENSG00000170419ENST00000407838p.S163Lc.488C>TSubstitution - Missense
HAS3ENSG00000103044ENST00000306560p.M171Ic.513G>TSubstitution - Missense
HAS3ENSG00000103044ENST00000219322p.M171Ic.513G>TSubstitution - Missense
ENST00000316490_v65p.V3387Lc.10159G>CSubstitution - Missense
ENST00000316490p.E4079Qc.12235G>CSubstitution - Missense
TSC2ENSG00000103197ENST00000219476p.L1266Mc.3796C>ASubstitution - Missense
TSC2ENSG00000103197ENST00000219476p.L1266Mc.3796C>ASubstitution - Missense
TNRC6AENSG00000090905ENST00000395799p.?c.5374-5C>TUnknown
RPS19ENSG00000105372ENST00000221975p.D8Gc.23A>GSubstitution - Missense
ZNF283ENSG00000167637ENST00000324461p.Q84Ec.250C>GSubstitution - Missense
ZNF283ENSG00000167637ENST00000324461p.Q17Ec.49C>GSubstitution - Missense
ZNF227ENSG00000131115ENST00000313040p.F32Lc.94T>CSubstitution - Missense
NM_133170.2p.?c.1451-6C>TUnknown
PLCG1ENSG00000124181ENST00000244007p.Q422Hc.1266G>CSubstitution - Missense
HDAC9ENSG00000048052ENST00000441542p.G735Rc.2203G>CSubstitution - Missense
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
SCN1AENSG00000144285ENST00000303395p.H469Lc.1406A>TSubstitution - Missense
SCN1AENSG00000144285ENST00000375405p.H469Lc.1406A>TSubstitution - Missense
ADCY8ENSG00000155897ENST00000286355p.R448Pc.1343G>CSubstitution - Missense
RNF139ENSG00000170881ENST00000303545p.I595Mc.1785C>GSubstitution - Missense
ENST00000398946p.M704Lc.2110A>TSubstitution - Missense
ZFATENSG00000066827ENST00000377838p.M716Lc.2146A>TSubstitution - Missense
COL22A1ENSG00000169436ENST00000303045p.?c.2560-9C>AUnknown
NM_144488.2p.S570*c.1709C>GSubstitution - Nonsense
PAPPAENSG00000182752ENST00000328252p.N289Kc.867C>ASubstitution - Missense
CIZ1ENSG00000148337ENST00000372938p.D334Hc.1000G>CSubstitution - Missense
ENST00000357418p.A189Vc.566C>TSubstitution - Missense
SNTG2ENSG00000172554ENST00000308624p.F443Yc.1328T>ASubstitution - Missense
TUBA3EENSG00000152086ENST00000312988p.L230Lc.690G>ASubstitution - coding silent
ENST00000409867_v68p.P256Tc.766C>ASubstitution - Missense
ANKRD30BLENSG00000163046ENST00000409867p.P256Tc.766C>ASubstitution - Missense
PHLDB2ENSG00000144824ENST00000393923p.E1216Ac.3647A>CSubstitution - Missense
KIAA1407ENSG00000163617ENST00000295878p.Q356*c.1066C>TSubstitution - Nonsense
CD200R1ENSG00000163606ENST00000440122p.?c.203-9C>TUnknown
GTF2E1ENSG00000153767ENST00000283875p.?c.892+10G>AUnknown
LSAMPENSG00000185565ENST00000490035p.S95Sc.285C>TSubstitution - coding silent
DNAJC13ENSG00000138246ENST00000260818p.L2006Lc.6018G>TSubstitution - coding silent
SLC15A2ENSG00000163406ENST00000489711p.Q646*c.1936C>TSubstitution - Nonsense
ILDR1ENSG00000145103ENST00000344209p.S83Yc.248C>ASubstitution - Missense
CEP63ENSG00000182923ENST00000337090p.S433Sc.1299C>TSubstitution - coding silent
SLCO2A1ENSG00000174640ENST00000310926p.?c.862-3C>TUnknown
LRBAENSG00000198589ENST00000357115p.R722Cc.2164C>TSubstitution - Missense
KIAA0922ENSG00000121210ENST00000409959p.W1500Lc.4499G>TSubstitution - Missense
ENST00000361316p.W1352Lc.4055G>TSubstitution - Missense
FAM193AENSG00000125386ENST00000382839p.V842Ic.2524G>ASubstitution - Missense
CHSY3ENSG00000198108ENST00000305031p.Y750Fc.2249A>TSubstitution - Missense
TCF7ENSG00000081059ENST00000342854p.A372Ac.1116C>ASubstitution - coding silent
ENST00000361590p.R397Sc.1189C>ASubstitution - Missense
ZDHHC11ENSG00000188818ENST00000283441p.I256Mc.768C>GSubstitution - Missense
ZDHHC11ENSG00000188818ENST00000424784p.I256Mc.768C>GSubstitution - Missense
DIAPH2ENSG00000147202ENST00000324765p.?c.448-3T>CUnknown
DIAPH2ENSG00000147202ENST00000324765p.I298Vc.892A>GSubstitution - Missense
CDH7ENSG00000081138ENST00000323011p.C594Sc.1780T>ASubstitution - Missense
CDH7ENSG00000081138ENST00000323011p.C594Sc.1780T>ASubstitution - Missense
PPP4R1ENSG00000154845ENST00000400556p.?c.918+4G>TUnknown
TYK2ENSG00000105397ENST00000525621p.?c.2618-7C>GUnknown
PPAN-P2RY11ENSG00000243207ENST00000393796p.?c.823-3C>AUnknown
PPANENSG00000130810ENST00000253107p.?c.823-3C>AUnknown
IFT27ENSG00000100360ENST00000340630p.F181Fc.543C>TSubstitution - coding silent
APOL4ENSG00000100336ENST00000328429p.S88Cc.262A>TSubstitution - Missense
TNRC6BENSG00000100354ENST00000301923p.T1003Kc.3008C>ASubstitution - Missense
TAB1ENSG00000100324ENST00000216160p.V180Ic.538G>ASubstitution - Missense
WASF1ENSG00000112290ENST00000392586p.E236Kc.706G>ASubstitution - Missense
LAMA4ENSG00000112769ENST00000389463p.K1298*c.3892A>TSubstitution - Nonsense
DSTENSG00000151914ENST00000244364p.?c.9811+10C>TUnknown
DSTENSG00000151914ENST00000370769p.?c.17053+10C>TUnknown
DSPENSG00000096696ENST00000379802p.A1274Tc.3820G>ASubstitution - Missense
BLKENSG00000136573ENST00000259089p.R180Sc.538C>ASubstitution - Missense
TAF2ENSG00000064313ENST00000378164p.S574Fc.1721C>TSubstitution - Missense
SMC2ENSG00000136824ENST00000286398p.E202Qc.604G>CSubstitution - Missense
ZNF189ENSG00000136870ENST00000339664p.H260Rc.779A>GSubstitution - Missense
HINT3ENSG00000111911ENST00000229633p.I171Mc.513C>GSubstitution - Missense
THEMISENSG00000172673ENST00000368248p.S517Sc.1551T>CSubstitution - coding silent
TBC1D7ENSG00000145979ENST00000379300p.C232Fc.695G>TSubstitution - Missense
MYBENSG00000118513ENST00000341911p.I269Vc.805A>GSubstitution - Missense
KIAA1009ENSG00000135315ENST00000403245p.?c.503+5A>TUnknown
RNGTTENSG00000111880ENST00000369475p.S534Sc.1602G>ASubstitution - coding silent
ZNF292ENSG00000188994ENST00000369577p.E187*c.559G>TSubstitution - Nonsense
OR1A2ENSG00000172150ENST00000381951p.Q100Hc.300G>CSubstitution - Missense
NM_002311.2p.L398Fc.1194G>TSubstitution - Missense
LIG3ENSG00000005156ENST00000378526p.A998Tc.2992G>ASubstitution - Missense
PIGWENSG00000184886ENST00000328396p.?c.1509_1515delTTGGTGAUnknown
MRM1ENSG00000129282ENST00000250156p.W131Cc.393G>CSubstitution - Missense
SLC8A1ENSG00000183023ENST00000403092p.G652Ac.1955G>CSubstitution - Missense
DHX57ENSG00000163214ENST00000295373p.E1251Kc.3751G>ASubstitution - Missense
PLEKHH2ENSG00000152527ENST00000282406p.I1009Mc.3027C>GSubstitution - Missense
MSH6ENSG00000116062ENST00000234420p.P1087Ac.3259C>GSubstitution - Missense
SRBD1ENSG00000068784ENST00000263736p.K809Mc.2426A>TSubstitution - Missense
CYB5D2ENSG00000167740ENST00000301391p.W28Cc.84G>CSubstitution - Missense
ENST00000356906_v68p.L56Lc.168C>GSubstitution - coding silent
ZSCAN5BENSG00000197213ENST00000358992p.L141Lc.423G>ASubstitution - coding silent
NLRP4ENSG00000160505ENST00000587891p.R811Rc.2431C>ASubstitution - coding silent
DUS3LENSG00000141994ENST00000309061p.N117Ic.350A>TSubstitution - Missense
ZNF17ENSG00000186272ENST00000307658p.A42Gc.125C>GSubstitution - Missense
ZNF416ENSG00000083817ENST00000196489p.P148Pc.444C>TSubstitution - coding silent
A1BGENSG00000121410ENST00000263100p.S105Rc.315C>ASubstitution - Missense
ZNF135ENSG00000176293ENST00000313434p.E26Dc.78G>CSubstitution - Missense
RPH3ALENSG00000181031ENST00000331302p.L221Vc.661C>GSubstitution - Missense
TTYH2ENSG00000141540ENST00000269346p.P506Sc.1516C>TSubstitution - Missense
SSTR2ENSG00000180616ENST00000357585p.L327Lc.981C>GSubstitution - coding silent
MRPS7ENSG00000125445ENST00000245539p.T199Pc.595A>CSubstitution - Missense
KCTD2ENSG00000180901ENST00000322444p.T242Ac.724A>GSubstitution - Missense
ZNF619ENSG00000177873ENST00000447116p.N284Tc.851A>CSubstitution - Missense
C16orf86ENSG00000159761ENST00000403458p.?c.333-9C>GUnknown
ELMOD3ENSG00000115459ENST00000409890p.Q97Rc.290A>GSubstitution - Missense
FAT4ENSG00000196159ENST00000394329p.L74Pc.221T>CSubstitution - Missense
BBS12ENSG00000181004ENST00000314218p.E394Kc.1180G>ASubstitution - Missense
PCDH10ENSG00000138650ENST00000264360p.G687Gc.2061C>GSubstitution - coding silent
ADAMTS2ENSG00000087116ENST00000251582p.Y1079Nc.3235T>ASubstitution - Missense
NAA15ENSG00000164134ENST00000296543p.M530Vc.1588A>GSubstitution - Missense
TBC1D9BENSG00000197226ENST00000356834p.S275Lc.824C>TSubstitution - Missense
TBC1D9BENSG00000197226ENST00000355235p.S275Lc.824C>TSubstitution - Missense
NHSL1ENSG00000135540ENST00000343505p.E818Qc.2452G>CSubstitution - Missense
FNDC1ENSG00000164694ENST00000297267p.R1660Lc.4979G>TSubstitution - Missense
SCRN1ENSG00000136193ENST00000434476p.I207Tc.620T>CSubstitution - Missense
CHN2ENSG00000106069ENST00000222792p.D129Hc.385G>CSubstitution - Missense
PTPN12ENSG00000127947ENST00000248594p.S397*c.1190C>GSubstitution - Nonsense
DOCK10ENSG00000135905ENST00000258390p.L1028Vc.3082C>GSubstitution - Missense
SP100ENSG00000067066ENST00000340126p.E644Qc.1930G>CSubstitution - Missense
TRIP12ENSG00000153827ENST00000283943p.?c.5469+4T>CUnknown
PSMD1ENSG00000173692ENST00000308696p.F341Lc.1023C>GSubstitution - Missense
COL6A3ENSG00000163359ENST00000295550p.L2702Lc.8106C>TSubstitution - coding silent
VPS54ENSG00000143952ENST00000272322p.K623Nc.1869G>CSubstitution - Missense
FAM161AENSG00000170264ENST00000404929p.E589*c.1765G>TSubstitution - Nonsense
FAM161AENSG00000170264ENST00000405894p.E533*c.1597G>TSubstitution - Nonsense
VPS54ENSG00000143952ENST00000272322p.I112Ic.336C>ASubstitution - coding silent
NM_053025p.?c.166-4G>CUnknown
PLXND1ENSG00000004399ENST00000324093p.R1899Rc.5697G>CSubstitution - coding silent
CAND2ENSG00000144712ENST00000295989p.F24Fc.72C>TSubstitution - coding silent
KIAA1644ENSG00000138944ENST00000381176p.G44Dc.131G>ASubstitution - Missense
ALS2CLENSG00000178038ENST00000318962p.L884Lc.2650C>TSubstitution - coding silent
ITPR1ENSG00000150995ENST00000302640p.E782Dc.2346A>CSubstitution - Missense
ITPR1ENSG00000150995ENST00000456211p.E782Dc.2346A>CSubstitution - Missense
OCLNENSG00000197822ENST00000396442p.?c.891+4A>TUnknown
TBC1D22BENSG00000065491ENST00000373491p.V180fs*20c.537_538insTInsertion - Frameshift
FAM217AENSG00000145975ENST00000274673p.I477Tc.1430T>CSubstitution - Missense
PEX6ENSG00000124587ENST00000304611p.R625Lc.1874G>TSubstitution - Missense
PEX6ENSG00000124587ENST00000304611p.L212Fc.634C>TSubstitution - Missense
SH2B2ENSG00000160999ENST00000536178p.A253Ac.759G>TSubstitution - coding silent
POM121ENSG00000196313ENST00000257622p.A755Vc.2264C>TSubstitution - Missense
POM121ENSG00000196313ENST00000395270p.A755Vc.2264C>TSubstitution - Missense
POM121ENSG00000196313ENST00000257622p.A601Ac.1803G>ASubstitution - coding silent
POM121ENSG00000196313ENST00000395270p.A601Ac.1803G>ASubstitution - coding silent
FCHO1ENSG00000130475ENST00000252771p.?c.2094-6C>GUnknown
SU_MAST3p.F1098Fc.3294C>TSubstitution - coding silent
NCANENSG00000130287ENST00000252575p.F338Fc.1014C>TSubstitution - coding silent
NCANENSG00000130287ENST00000252575p.F338Fc.1014C>TSubstitution - coding silent
SIX5ENSG00000177045ENST00000317578p.E702Qc.2104G>CSubstitution - Missense
EML2ENSG00000125746ENST00000245925p.M32Ic.96G>ASubstitution - Missense
RSPH6AENSG00000104941ENST00000221538p.Y480Yc.1440C>TSubstitution - coding silent
APOBRENSG00000184730ENST00000328423p.G306Sc.916G>ASubstitution - Missense
QPRTENSG00000103485ENST00000395384p.A275Ac.825G>TSubstitution - coding silent
LATENSG00000213658ENST00000395461p.Y146Yc.438C>TSubstitution - coding silent
LATENSG00000213658ENST00000360872p.Y110Yc.330C>TSubstitution - coding silent
PRSS37ENSG00000165076ENST00000350549p.V86Ic.256G>ASubstitution - Missense
CYP51A1ENSG00000001630ENST00000003100p.P382Ac.1144C>GSubstitution - Missense
TRPV5ENSG00000127412ENST00000265310p.M528Ic.1584G>TSubstitution - Missense
ENSG00000257743ENST00000477922p.V322Fc.964G>TSubstitution - Missense
CALCRENSG00000004948ENST00000359558p.S507Cc.1520C>GSubstitution - Missense
CYP11B1ENSG00000160882ENST00000292427p.R181Rc.543G>TSubstitution - coding silent
PLECENSG00000178209ENST00000322810p.T3654Ac.10960A>GSubstitution - Missense
PLECENSG00000178209ENST00000345136p.T3517Ac.10549A>GSubstitution - Missense
PLECENSG00000178209ENST00000354958p.T3495Ac.10483A>GSubstitution - Missense
SLC39A4ENSG00000147804ENST00000276833p.L115Lc.345G>CSubstitution - coding silent
ENST00000426361p.K209Nc.627G>CSubstitution - Missense
RPL8ENSG00000161016ENST00000394920p.?c.138+6G>AUnknown
ZNF517ENSG00000197363ENST00000359971p.W119Gc.355T>GSubstitution - Missense
FOXH1ENSG00000160973ENST00000377317p.P320Sc.958C>TSubstitution - Missense
ENST00000357934p.A640Ac.1920G>TSubstitution - coding silent
ENST00000400156_v68p.L112Lc.334C>TSubstitution - coding silent
ZNF705GENSG00000215372ENST00000400156p.L112Lc.334C>TSubstitution - coding silent
TRAM1ENSG00000067167ENST00000262213p.R107Mc.320G>TSubstitution - Missense
ZNF704ENSG00000164684ENST00000327835p.?c.927+3G>CUnknown
SLC14A1ENSG00000141469ENST00000321925p.P370Pc.1110T>GSubstitution - coding silent
EPB41L3ENSG00000082397ENST00000341928p.T982Ic.2945C>TSubstitution - Missense
KIAA1468ENSG00000134444ENST00000398130p.M995Ic.2985G>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.G19792Gc.59376T>CSubstitution - coding silent
ENST00000356127p.G26162Gc.78486T>CSubstitution - coding silent
NM_003319p.G19667Gc.59001T>CSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.E9757Vc.29270A>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.E9824Vc.29471A>TSubstitution - Missense
WDR12ENSG00000138442ENST00000261015p.V251Gc.752T>GSubstitution - Missense
ALS2CR11ENSG00000155754ENST00000439140p.R1558Tc.4673G>CSubstitution - Missense
SDC1ENSG00000115884ENST00000254351p.S216Lc.647C>TSubstitution - Missense
SEPT2ENSG00000168385ENST00000360051p.I54Mc.162A>GSubstitution - Missense
KIF1AENSG00000130294ENST00000320389p.R355Hc.1064G>ASubstitution - Missense
ADCY3ENSG00000138031ENST00000260600p.E938Qc.2812G>CSubstitution - Missense
IMPG2ENSG00000081148ENST00000193391p.P201Ac.601C>GSubstitution - Missense
FANCD2ENSG00000144554ENST00000419585p.L762Lc.2286A>GSubstitution - coding silent
EIF5BENSG00000158417ENST00000289371p.L712Lc.2136G>CSubstitution - coding silent
MYH4ENSG00000264424ENST00000255381p.S1213Tc.3638G>CSubstitution - Missense
ZNF175ENSG00000105497ENST00000262259p.S112Cc.335C>GSubstitution - Missense
PTPRSENSG00000105426ENST00000357368p.L1646Lc.4938G>TSubstitution - coding silent
MYH3ENSG00000109063ENST00000226209p.?c.2048-6T>CUnknown
NLRP12ENSG00000142405ENST00000324134p.E355Vc.1064A>TSubstitution - Missense
NLRP12ENSG00000142405ENST00000345770p.E355Vc.1064A>TSubstitution - Missense
LAMA5ENSG00000130702ENST00000252999p.R937Wc.2809C>TSubstitution - Missense
HELZ2ENSG00000130589ENST00000467148p.R413Rc.1239G>ASubstitution - coding silent
KCNQ2ENSG00000075043ENST00000359125p.I115Ic.345C>TSubstitution - coding silent
KCNQ2ENSG00000075043ENST00000344425p.I115Ic.345C>TSubstitution - coding silent
COL20A1ENSG00000101203ENST00000358894p.D728Vc.2183A>TSubstitution - Missense
DIDO1ENSG00000101191ENST00000395343p.E707Gc.2120A>GSubstitution - Missense
TPTEENSG00000166157ENST00000361285p.L408Lc.1224C>TSubstitution - coding silent
MYO18BENSG00000133454ENST00000335473p.P1279Tc.3835C>ASubstitution - Missense
LRP5LENSG00000100068ENST00000402859p.W122Cc.366G>TSubstitution - Missense
CRIM1ENSG00000150938ENST00000280527p.R49fs*87c.142delCDeletion - Frameshift
LTBP1ENSG00000049323ENST00000407925p.Y1247Yc.3741T>CSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.Q455Kc.1363C>ASubstitution - Missense
ENST00000405167p.Q455Kc.1363C>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T1183Ac.3547A>GSubstitution - Missense
ENST00000405167p.T1183Ac.3547A>GSubstitution - Missense
SGOL1ENSG00000129810ENST00000263753p.G218Vc.653G>TSubstitution - Missense
ZNF385DENSG00000151789ENST00000281523p.C269Fc.806G>TSubstitution - Missense
HELQENSG00000163312ENST00000295488p.K693Ec.2077A>GSubstitution - Missense
TACC1ENSG00000147526ENST00000317827p.S497Cc.1490C>GSubstitution - Missense
NM_006904p.D2073Ec.6219C>ASubstitution - Missense
KAT6AENSG00000083168ENST00000265713p.R1858Cc.5572C>TSubstitution - Missense
ZNF471ENSG00000196263ENST00000308031p.G409Gc.1227A>TSubstitution - coding silent
ENST00000469064p.V37Mc.109G>ASubstitution - Missense
TBC1D17ENSG00000104946ENST00000221543p.E434Kc.1300G>ASubstitution - Missense
SHANK1ENSG00000161681ENST00000293441p.A257Ac.771C>TSubstitution - coding silent
ENST00000333834_v70p.S162Wc.485C>GSubstitution - Missense
B4GALT5ENSG00000158470ENST00000371711p.*389*c.1166G>ASubstitution - coding silent
PARD6BENSG00000124171ENST00000371610p.S337Fc.1010C>TSubstitution - Missense
MTG2ENSG00000101181ENST00000370823p.D322Nc.964G>ASubstitution - Missense
FAM217BENSG00000196227ENST00000358293p.E265Qc.793G>CSubstitution - Missense
VWDEENSG00000146530ENST00000275358p.Q1000Lc.2999A>TSubstitution - Missense
VWDEENSG00000146530ENST00000275358p.Q259Lc.776A>TSubstitution - Missense
VWDEENSG00000146530ENST00000275358p.Q358Ec.1072C>GSubstitution - Missense
AKR1B10ENSG00000198074ENST00000359579p.G204Ac.611G>CSubstitution - Missense
NFX1ENSG00000086102ENST00000379540p.E701Qc.2101G>CSubstitution - Missense
PXKENSG00000168297ENST00000356151p.I272Vc.814A>GSubstitution - Missense
NM_017771p.I272Vc.814A>GSubstitution - Missense
LMOD3ENSG00000163380ENST00000420581p.Q537*c.1609C>TSubstitution - Nonsense
CHRNA2ENSG00000120903ENST00000407991p.G518Sc.1552G>ASubstitution - Missense
SCARA3ENSG00000168077ENST00000301904p.Q91Lc.272A>TSubstitution - Missense
SCARA3ENSG00000168077ENST00000337221p.Q91Lc.272A>TSubstitution - Missense
TNKSENSG00000173273ENST00000310430p.I310Vc.928A>GSubstitution - Missense
NIPAL2ENSG00000104361ENST00000341166p.A152fs*7c.454delGDeletion - Frameshift
EFCAB3ENSG00000172421ENST00000450662p.L200Lc.600A>GSubstitution - coding silent
LRRC37A3ENSG00000176809ENST00000319651p.R69Lc.206G>TSubstitution - Missense
FAM64AENSG00000129195ENST00000572447p.L235Fc.703C>TSubstitution - Missense
WSB1ENSG00000109046ENST00000262394p.A27Tc.79G>ASubstitution - Missense
SARM1ENSG00000004139ENST00000457710p.S682Fc.2045C>TSubstitution - Missense
CCDC40ENSG00000141519ENST00000397545p.L1106Vc.3316C>GSubstitution - Missense
GUCY2DENSG00000132518ENST00000254854p.?c.1957-3A>GUnknown
RNF213ENSG00000173821ENST00000336301p.?c.7730-8C>TUnknown
ENST00000411702p.?c.13658-8C>TUnknown
NPC1ENSG00000141458ENST00000269228p.L408Lc.1224C>TSubstitution - coding silent
ABCA7ENSG00000064687ENST00000263094p.?c.4764+5G>AUnknown
SYT4ENSG00000132872ENST00000255224p.R247Gc.739A>GSubstitution - Missense
SYT4ENSG00000132872ENST00000255224p.P50Tc.148C>ASubstitution - Missense
SYT4ENSG00000132872ENST00000255224p.P50Tc.148C>ASubstitution - Missense
ZNF625ENSG00000257591ENST00000439556p.G103Ac.308G>CSubstitution - Missense
ZNF625ENSG00000257591ENST00000355738p.G37Ac.110G>CSubstitution - Missense
MIDNENSG00000167470ENST00000300952p.N274Dc.820A>GSubstitution - Missense
FAM3BENSG00000183844ENST00000357985p.G119Gc.357G>TSubstitution - coding silent
LCA5LENSG00000157578ENST00000358268p.L175Fc.525G>CSubstitution - Missense
LCA5LENSG00000157578ENST00000380671p.L175Fc.525G>CSubstitution - Missense
UMODL1ENSG00000177398ENST00000408989p.V1184Vc.3552G>CSubstitution - coding silent
ADARB1ENSG00000197381ENST00000389863p.K68Nc.204G>CSubstitution - Missense
ROBO2ENSG00000185008ENST00000487694p.R1280Lc.3839G>TSubstitution - Missense
ANKRD36ENSG00000135976ENST00000461153p.K178Nc.534A>TSubstitution - Missense
UBN1ENSG00000118900ENST00000396658p.P787Lc.2360C>TSubstitution - Missense
RPGRIP1LENSG00000103494ENST00000379925p.M495Ic.1485G>CSubstitution - Missense
GPR179ENSG00000188888ENST00000342292p.G1014Vc.3041G>TSubstitution - Missense
MRPL45ENSG00000174100ENST00000312513p.E110Qc.328G>CSubstitution - Missense
NLRC5ENSG00000140853ENST00000262510p.P1337Sc.4009C>TSubstitution - Missense
RPL23ENSG00000125691ENST00000394332p.?c.14-3C>TUnknown
KRTAP21-1ENSG00000187005ENST00000335093p.G25Dc.74G>ASubstitution - Missense
TIAM1ENSG00000156299ENST00000286827p.A1582Dc.4745C>ASubstitution - Missense
HTTENSG00000197386ENST00000355072p.F1487Lc.4459T>CSubstitution - Missense
NM_032457.1p.E1095Dc.3285G>TSubstitution - Missense
TTLL2ENSG00000120440ENST00000239587p.P140Pc.420G>ASubstitution - coding silent
TPMTENSG00000137364ENST00000309983p.D54Hc.160G>CSubstitution - Missense
HIST1H2BCENSG00000180596ENST00000396984p.0c.0Unknown
AKR1B15ENSG00000227471ENST00000457545p.G232Ac.695G>CSubstitution - Missense
AKR1B15ENSG00000227471ENST00000423958p.G204Ac.611G>CSubstitution - Missense
MGAMENSG00000257335ENST00000549489p.W1531Sc.4592G>CSubstitution - Missense
MGAMENSG00000257335ENST00000475668p.W1531Sc.4592G>CSubstitution - Missense
MGAMENSG00000257335ENST00000549489p.W1531Cc.4593G>TSubstitution - Missense
MGAMENSG00000257335ENST00000475668p.W1531Cc.4593G>TSubstitution - Missense
GCNT3ENSG00000140297ENST00000396065p.L332Lc.996C>TSubstitution - coding silent
DNAH10ENSG00000197653ENST00000409039p.S3155Sc.9465G>ASubstitution - coding silent
EIF2B1ENSG00000111361ENST00000424014p.S51Gc.151A>GSubstitution - Missense
OR2M5ENSG00000162727ENST00000366476p.S188*c.563C>GSubstitution - Nonsense
OR2L13ENSG00000196071ENST00000358120p.S42*c.125C>ASubstitution - Nonsense
OR2L13ENSG00000196071ENST00000366478p.S42*c.125C>ASubstitution - Nonsense
ARID1AENSG00000117713ENST00000324856p.?c.1921-2A>GUnknown
C1orf87ENSG00000162598ENST00000371201p.K203Nc.609G>CSubstitution - Missense
NFIAENSG00000162599ENST00000371189p.E193Vc.578A>TSubstitution - Missense
NFIAENSG00000162599ENST00000485903p.E148Vc.443A>TSubstitution - Missense
JUNENSG00000177606ENST00000371222p.H87Rc.260A>GSubstitution - Missense
WDR78ENSG00000152763ENST00000371026p.E368*c.1102G>TSubstitution - Nonsense
LRRIQ3ENSG00000162620ENST00000395089p.T347Tc.1041C>ASubstitution - coding silent
SLC44A5ENSG00000137968ENST00000370859p.P30Pc.90T>ASubstitution - coding silent
CLCA4ENSG00000016602ENST00000370563p.I131Tc.392T>CSubstitution - Missense
COL24A1ENSG00000171502ENST00000370571p.Q941Rc.2822A>GSubstitution - Missense
KTN1ENSG00000126777ENST00000416613p.T893Ic.2678C>TSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.E3859Qc.11575G>CSubstitution - Missense
FUT8ENSG00000033170ENST00000360689p.Q330*c.988C>TSubstitution - Nonsense
DENND4AENSG00000174485ENST00000443035p.A1628Tc.4882G>ASubstitution - Missense
GBP7ENSG00000213512ENST00000294671p.S414Lc.1241C>TSubstitution - Missense
BRDTENSG00000137948ENST00000362005p.V39Vc.117C>ASubstitution - coding silent
HFM1ENSG00000162669ENST00000370425p.L547Lc.1641T>ASubstitution - coding silent
LIG4ENSG00000174405ENST00000405925p.E891Qc.2671G>CSubstitution - Missense
DIO3ENSG00000197406ENST00000359323p.L60Lc.180C>GSubstitution - coding silent
WDR25ENSG00000176473ENST00000335290p.?c.971-6T>CUnknown
SPINT1ENSG00000166145ENST00000344051p.?c.604-1G>AUnknown
RHOVENSG00000104140ENST00000220507p.G88fs*60c.263delGDeletion - Frameshift
INO80ENSG00000128908ENST00000361937p.?c.4077+3G>AUnknown
CAPSLENSG00000152611ENST00000397367p.T132Rc.395C>GSubstitution - Missense
CAPSLENSG00000152611ENST00000397366p.T132Rc.395C>GSubstitution - Missense
LIFRENSG00000113594ENST00000263409p.T343Tc.1029A>TSubstitution - coding silent
C5orf42ENSG00000197603ENST00000425232p.P2203Hc.6608C>ASubstitution - Missense
C5orf42ENSG00000197603ENST00000274258p.P1083Hc.3248C>ASubstitution - Missense
C5orf42ENSG00000197603ENST00000425232p.P1729Rc.5186C>GSubstitution - Missense
C5orf42ENSG00000197603ENST00000274258p.P610Rc.1829C>GSubstitution - Missense
ENST00000398114p.R134Tc.401G>CSubstitution - Missense
TMEM231ENSG00000205084ENST00000258173p.R105Tc.314G>CSubstitution - Missense
GLG1ENSG00000090863ENST00000205061p.S1152Ic.3455G>TSubstitution - Missense
PKD1L2ENSG00000166473ENST00000525539p.?c.3093+4G>TUnknown
PKD1L2ENSG00000166473ENST00000525539p.?c.3093+3G>TUnknown
ENST00000360678p.?c.1038+3G>TUnknown
ENST00000339740p.E649Dc.1947G>CSubstitution - Missense
MAPTENSG00000186868ENST00000344290p.S739Cc.2216C>GSubstitution - Missense
MAPTENSG00000186868ENST00000262410p.S721Cc.2162C>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S7839Cc.23516C>GSubstitution - Missense
RALGAPA2ENSG00000188559ENST00000202677p.L1687Lc.5061C>GSubstitution - coding silent
NM_006192.1p.A287Ac.861C>ASubstitution - coding silent
TTNENSG00000155657ENST00000360870p.Y5106Yc.15318T>CSubstitution - coding silent
TTNENSG00000155657ENST00000360870p.R5094Rc.15280A>CSubstitution - coding silent
ZNF804AENSG00000170396ENST00000302277p.G997Gc.2991A>TSubstitution - coding silent
PDE1AENSG00000115252ENST00000410103p.L384Lc.1150C>TSubstitution - coding silent
PDE1AENSG00000115252ENST00000456212p.L384Lc.1150C>TSubstitution - coding silent
PDE1AENSG00000115252ENST00000346717p.L350Lc.1048C>TSubstitution - coding silent
TNS1ENSG00000079308ENST00000171887p.T357Mc.1070C>TSubstitution - Missense
TNS1ENSG00000079308ENST00000446903p.T482Mc.1445C>TSubstitution - Missense
RPL37AENSG00000197756ENST00000491306p.?c.3+3G>TUnknown
ST18ENSG00000147488ENST00000276480p.R176Tc.527G>CSubstitution - Missense
MTFR1ENSG00000066855ENST00000262146p.S66Rc.198C>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T13974Ac.41920A>GSubstitution - Missense
CTSVENSG00000136943ENST00000259470p.S198Fc.593C>TSubstitution - Missense
RAI1ENSG00000108557ENST00000261641p.P1617Lc.4850C>TSubstitution - Missense
EIF4A1ENSG00000161960ENST00000293831p.V299Vc.897A>GSubstitution - coding silent
TP53ENSG00000141510ENST00000455263p.?c.560-1G>CUnknown
CD3EENSG00000198851ENST00000361763p.Y36Hc.106T>CSubstitution - Missense
VPS11ENSG00000160695ENST00000300793p.?c.634-7C>TUnknown
CXCR5ENSG00000160683ENST00000292174p.L182Lc.546G>ASubstitution - coding silent
BBOX1ENSG00000129151ENST00000263182p.H179Yc.535C>TSubstitution - Missense
SLC17A6ENSG00000091664ENST00000263160p.G489Vc.1466G>TSubstitution - Missense
SLC6A5ENSG00000165970ENST00000525748p.I438Ic.1314C>ASubstitution - coding silent
ZNF195ENSG00000005801ENST00000399602p.F225Lc.675T>ASubstitution - Missense
ZNF195ENSG00000005801ENST00000354599p.F153Lc.459T>ASubstitution - Missense
NTNG1ENSG00000162631ENST00000370071p.P68Tc.202C>ASubstitution - Missense
ZNF195ENSG00000005801ENST00000399602p.E404fs*213c.1212_1227del16Deletion - Frameshift
NTNG1ENSG00000162631ENST00000370068p.P68Tc.202C>ASubstitution - Missense
AMIGO1ENSG00000181754ENST00000369862p.Q473*c.1417C>TSubstitution - Nonsense
LRIF1ENSG00000121931ENST00000369763p.K764Mc.2291A>TSubstitution - Missense
KCNC4ENSG00000116396ENST00000438661p.S510Pc.1528T>CSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.W2230Cc.6690G>CSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.I668Mc.2004C>GSubstitution - Missense
ENST00000399953_v65p.T5Sc.13A>TSubstitution - Missense
NPRL3ENSG00000103148ENST00000399953p.T5Sc.13A>TSubstitution - Missense
THNSL1ENSG00000185875ENST00000376356p.P368Lc.1103C>TSubstitution - Missense
GAD2ENSG00000136750ENST00000259271p.A193Ec.578C>ASubstitution - Missense
DCAF4ENSG00000119599ENST00000358377p.D462Ac.1385A>CSubstitution - Missense
AREL1ENSG00000119682ENST00000356357p.L471Fc.1413G>TSubstitution - Missense
ENST00000426033p.P1279Pc.3837C>GSubstitution - coding silent
AKR1C4ENSG00000198610ENST00000380448p.?c.846+3G>AUnknown
FAM13CENSG00000148541ENST00000373868p.S89Fc.266C>TSubstitution - Missense
FAM13CENSG00000148541ENST00000422313p.S89Fc.266C>TSubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.V1846Vc.5538A>TSubstitution - coding silent
RHBDL2ENSG00000158315ENST00000372985p.R139*c.415C>TSubstitution - Nonsense
BTBD19ENSG00000222009ENST00000450269p.R46Wc.136C>TSubstitution - Missense
PEBP1ENSG00000089220ENST00000261313p.D128Gc.383A>GSubstitution - Missense
FBXW8ENSG00000174989ENST00000309909p.V574Vc.1722C>TSubstitution - coding silent
CITENSG00000122966ENST00000261833p.V1049Ic.3145G>ASubstitution - Missense
PRUNEENSG00000143363ENST00000271620p.L266Lc.798C>GSubstitution - coding silent
PRUNEENSG00000143363ENST00000271620p.H292Qc.876C>ASubstitution - Missense
BNIPLENSG00000163141ENST00000368931p.G184Ac.551G>CSubstitution - Missense
BNIPLENSG00000163141ENST00000295294p.G102Ac.305G>CSubstitution - Missense
TDRKHENSG00000182134ENST00000368822p.?c.884-10C>GUnknown
TDRKHENSG00000182134ENST00000368822p.I101Ic.303C>TSubstitution - coding silent
TMEM87AENSG00000103978ENST00000389834p.E550Qc.1648G>CSubstitution - Missense
JMJD7-PLA2G4BENSG00000168970ENST00000382448p.P895Pc.2685G>ASubstitution - coding silent
UBR1ENSG00000159459ENST00000290650p.R503*c.1507C>TSubstitution - Nonsense
PIK3R3ENSG00000117461ENST00000372006p.V321Vc.963G>CSubstitution - coding silent
IPPENSG00000197429ENST00000359942p.Y555Yc.1665C>TSubstitution - coding silent
CMPK1ENSG00000162368ENST00000371873p.I207Ic.621A>CSubstitution - coding silent
NRD1ENSG00000078618ENST00000354831p.L262Fc.786G>CSubstitution - Missense
NPAS3ENSG00000151322ENST00000357798p.D59Hc.175G>CSubstitution - Missense
NPAS3ENSG00000151322ENST00000346562p.D59Hc.175G>CSubstitution - Missense
AKAP6ENSG00000151320ENST00000280979p.H2099Pc.6296A>CSubstitution - Missense
TRAPPC6BENSG00000182400ENST00000330149p.L84Vc.250C>GSubstitution - Missense
PNNENSG00000100941ENST00000216832p.V399Ac.1196T>CSubstitution - Missense
POLE2ENSG00000100479ENST00000216367p.E42Kc.124G>ASubstitution - Missense
FKBP3ENSG00000100442ENST00000216330p.S77Sc.231T>CSubstitution - coding silent
FANCMENSG00000187790ENST00000267430p.D1251Hc.3751G>CSubstitution - Missense
TUBGCP5ENSG00000153575ENST00000283645p.Y158Cc.473A>GSubstitution - Missense
CPNE8ENSG00000139117ENST00000331366p.?c.472-1G>AUnknown
PRMT8ENSG00000111218ENST00000382622p.A330Vc.989C>TSubstitution - Missense
RAB13ENSG00000143545ENST00000368575p.I73Rc.218T>GSubstitution - Missense
RPS27ENSG00000177954ENST00000368567p.?c.115+3G>AUnknown
DCST2ENSG00000163354ENST00000368424p.P739Ac.2215C>GSubstitution - Missense
SYT11ENSG00000132718ENST00000368324p.G267Gc.801G>TSubstitution - coding silent
YY1AP1ENSG00000163374ENST00000295566p.L55Lc.165C>TSubstitution - coding silent
CACNA1SENSG00000081248ENST00000362061p.?c.4113+2T>CUnknown
MYO5AENSG00000197535ENST00000399231p.L1082Lc.3246G>CSubstitution - coding silent
LIPCENSG00000166035ENST00000299022p.R159*c.475C>TSubstitution - Nonsense
OBSCNENSG00000154358ENST00000359599p.L2915Rc.8744T>GSubstitution - Missense
GALNT4ENSG00000257594ENST00000529983p.I244Ic.732T>CSubstitution - coding silent
URB2ENSG00000135763ENST00000258243p.Q1310Rc.3929A>GSubstitution - Missense
EP400NLENSG00000185684ENST00000376625p.Q66Qc.198G>ASubstitution - coding silent
MTRENSG00000116984ENST00000366577p.G263Vc.788G>TSubstitution - Missense
SLCO1B3ENSG00000111700ENST00000381545p.G511Vc.1532G>TSubstitution - Missense
SLCO1B3ENSG00000111700ENST00000381545p.C691Fc.2072G>TSubstitution - Missense
PDE3AENSG00000172572ENST00000359062p.P457Qc.1370C>ASubstitution - Missense
KRT71ENSG00000139648ENST00000267119p.S284Fc.851C>TSubstitution - Missense
TMC3ENSG00000188869ENST00000359440p.F36Fc.108T>CSubstitution - coding silent
TM6SF1ENSG00000136404ENST00000322019p.L121Lc.363G>CSubstitution - coding silent
KLHL25ENSG00000183655ENST00000337975p.R289Wc.865C>TSubstitution - Missense
AGBL1ENSG00000166748ENST00000421325p.S180Sc.540C>TSubstitution - coding silent
AGBL1ENSG00000166748ENST00000421325p.K590Ec.1768A>GSubstitution - Missense
SLC28A1ENSG00000156222ENST00000286749p.A322Sc.964G>TSubstitution - Missense
ENST00000343767_v68p.H41Yc.121C>TSubstitution - Missense
ARHGEF17ENSG00000110237ENST00000263674p.P1575Ac.4723C>GSubstitution - Missense
DNAJB13ENSG00000187726ENST00000339764p.G154Dc.461G>ASubstitution - Missense
GDPD4ENSG00000178795ENST00000315938p.L167Fc.501A>TSubstitution - Missense
RNASE7ENSG00000165799ENST00000298690p.A54Gc.161C>GSubstitution - Missense
TEP1ENSG00000129566ENST00000262715p.R1941Pc.5822G>CSubstitution - Missense
CEBPEENSG00000092067ENST00000206513p.N201Sc.602A>GSubstitution - Missense
RAB3IL1ENSG00000167994ENST00000394836p.E279Qc.835G>CSubstitution - Missense
EML3ENSG00000149499ENST00000394773p.R487Wc.1459C>TSubstitution - Missense
ENSG00000256349ENST00000419755p.E509Ec.1527G>ASubstitution - coding silent
SSH3ENSG00000172830ENST00000308127p.?c.1208+3C>AUnknown
FMN2ENSG00000155816ENST00000319653p.P1242Qc.3725C>ASubstitution - Missense
XM_371214.3p.T176Mc.527C>TSubstitution - Missense
NLRP3ENSG00000162711ENST00000391828p.H713Yc.2137C>TSubstitution - Missense
ZNF124ENSG00000196418ENST00000340684p.G280Ac.839G>CSubstitution - Missense
KCNK18ENSG00000186795ENST00000334549p.K236*c.706A>TSubstitution - Nonsense
ADARB2ENSG00000185736ENST00000381312p.P730Qc.2189C>ASubstitution - Missense
PIWIL4ENSG00000134627ENST00000299001p.D664Nc.1990G>ASubstitution - Missense
NELL2ENSG00000184613ENST00000429094p.N718Nc.2154T>CSubstitution - coding silent
VDRENSG00000111424ENST00000395324p.S187*c.560C>GSubstitution - Nonsense
VDRENSG00000111424ENST00000395324p.?c.463-9C>GUnknown
VDRENSG00000111424ENST00000395324p.?c.462+7C>GUnknown
RAPGEF3ENSG00000079337ENST00000449771p.S494*c.1481C>GSubstitution - Nonsense
RAPGEF3ENSG00000079337ENST00000395358p.S494*c.1481C>GSubstitution - Nonsense
AKAP3ENSG00000111254ENST00000545990p.V677Lc.2029G>TSubstitution - Missense
AKAP3ENSG00000111254ENST00000228850p.V677Lc.2029G>TSubstitution - Missense
RNF17ENSG00000132972ENST00000255324p.Q876Ec.2626C>GSubstitution - Missense
C1orf112ENSG00000000460ENST00000286031p.K358Mc.1073A>TSubstitution - Missense
SUCOENSG00000094975ENST00000263688p.H466Yc.1396C>TSubstitution - Missense
KPNA6ENSG00000025800ENST00000373625p.?c.559-3C>GUnknown
CSMD2ENSG00000121904ENST00000241312p.G1148Ec.3443G>ASubstitution - Missense
SNIP1ENSG00000163877ENST00000296215p.S85fs*12c.252_285del34Deletion - Frameshift
GABRB3ENSG00000166206ENST00000541819p.N194Kc.582C>ASubstitution - Missense
ATP1A2ENSG00000018625ENST00000361216p.L841Lc.2523G>ASubstitution - coding silent
ATP1A4ENSG00000132681ENST00000368081p.Q233Kc.697C>ASubstitution - Missense
SLAMF7ENSG00000026751ENST00000368043p.?c.377-5C>TUnknown
SLAMF7ENSG00000026751ENST00000368043p.F193Fc.579C>TSubstitution - coding silent
NUF2ENSG00000143228ENST00000367900p.V230Vc.690G>CSubstitution - coding silent
NUF2ENSG00000143228ENST00000271452p.V230Vc.690G>CSubstitution - coding silent
SPENENSG00000065526ENST00000375759p.E2267Dc.6801G>CSubstitution - Missense
ADAMTS8ENSG00000134917ENST00000257359p.P464Hc.1391C>ASubstitution - Missense
LRRC52ENSG00000162763ENST00000294818p.G161Vc.482G>TSubstitution - Missense
INSCENSG00000188487ENST00000379554p.D247Nc.739G>ASubstitution - Missense
PTPN5ENSG00000110786ENST00000358540p.?c.484-1G>TUnknown
PTPN5ENSG00000110786ENST00000358540p.?c.484-1G>TUnknown
NM_002837.2p.D1292Hc.3874G>CSubstitution - Missense
LRRC10ENSG00000198812ENST00000361484p.V139Ac.416T>CSubstitution - Missense
KCNC2ENSG00000166006ENST00000341669p.P410Pc.1230T>ASubstitution - coding silent
TPH2ENSG00000139287ENST00000333850p.F415Lc.1245C>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.?c.560-1G>CUnknown
CIAO1ENSG00000144021ENST00000488633p.N228Sc.683A>GSubstitution - Missense
TP53ENSG00000141510ENST00000413465p.?c.560-1G>CUnknown
ENST00000545858p.?c.281-1G>CUnknown
ENST00000414315p.?c.164-1G>CUnknown
MST1ENSG00000173531ENST00000449682p.T546Mc.1637C>TSubstitution - Missense
ENST00000421549p.V1200Lc.3598G>CSubstitution - Missense
SND1ENSG00000197157ENST00000354725p.I801Ic.2403C>TSubstitution - coding silent
OR2M7ENSG00000177186ENST00000317965p.L68Ic.202C>ASubstitution - Missense
NCSTNENSG00000162736ENST00000294785p.R434Qc.1301G>ASubstitution - Missense
PCDHB13ENSG00000187372ENST00000341948p.R32Ic.95G>TSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.P2408Pc.7224G>ASubstitution - coding silent
ENST00000409602_v68p.R691Wc.2071C>TSubstitution - Missense
PRRX1ENSG00000116132ENST00000239461p.V180Ic.538G>ASubstitution - Missense
PRRX1ENSG00000116132ENST00000367760p.V180Ic.538G>ASubstitution - Missense
OR4A47ENSG00000237388ENST00000446524p.H221Qc.663C>ASubstitution - Missense
SLITRK5ENSG00000165300ENST00000325089p.V370Lc.1108G>TSubstitution - Missense
CCDC88AENSG00000115355ENST00000336838p.E1221*c.3661G>TSubstitution - Nonsense
ALS2CLENSG00000178038ENST00000318962p.Y919Cc.2756A>GSubstitution - Missense
GNASENSG00000087460ENST00000371100p.Q870Lc.2609A>TSubstitution - Missense
SMARCC2ENSG00000139613ENST00000267064p.N511fs*147c.1528_1529insTTInsertion - Frameshift
MTRF1ENSG00000120662ENST00000379477p.T158Sc.472A>TSubstitution - Missense
RB1ENSG00000139687ENST00000267163p.E837Kc.2509G>ASubstitution - Missense
RB1ENSG00000139687ENST00000267163p.E837Kc.2509G>ASubstitution - Missense
CYSLTR2ENSG00000152207ENST00000282018p.V75Dc.224T>ASubstitution - Missense
MLNRENSG00000102539ENST00000218721p.L89Lc.267C>TSubstitution - coding silent
DIS3ENSG00000083520ENST00000377767p.R285Rc.855A>GSubstitution - coding silent
ASCL4ENSG00000187855ENST00000342331p.W50Cc.150G>TSubstitution - Missense
SCELENSG00000136155ENST00000349847p.P398Pc.1194T>CSubstitution - coding silent
PARD3ENSG00000148498ENST00000374789p.A1340Ac.4020G>ASubstitution - coding silent
AIDAENSG00000186063ENST00000340020p.S147Cc.440C>GSubstitution - Missense
CELA3BENSG00000219073ENST00000374666p.D122Nc.364G>ASubstitution - Missense
ITIH5ENSG00000123243ENST00000256861p.A609Pc.1825G>CSubstitution - Missense
ITIH5ENSG00000123243ENST00000397145p.A609Pc.1825G>CSubstitution - Missense
ITIH5ENSG00000123243ENST00000397146p.A609Pc.1825G>CSubstitution - Missense
C10orf11ENSG00000148655ENST00000372499p.S147Tc.440G>CSubstitution - Missense
CCSER2ENSG00000107771ENST00000224756p.R585Wc.1753C>TSubstitution - Missense
CCSER2ENSG00000107771ENST00000372088p.R585Wc.1753C>TSubstitution - Missense
SORL1ENSG00000137642ENST00000260197p.G1730Ec.5189G>ASubstitution - Missense
MICALCLENSG00000133808ENST00000256186p.T580Ac.1738A>GSubstitution - Missense
GRAMD1BENSG00000023171ENST00000529750p.D526Ac.1577A>CSubstitution - Missense
ZNF202ENSG00000166261ENST00000336139p.H138Rc.413A>GSubstitution - Missense
STT3AENSG00000134910ENST00000392708p.A681Vc.2042C>TSubstitution - Missense
PKNOX2ENSG00000165495ENST00000298282p.S172Rc.516C>ASubstitution - Missense
OR8B12ENSG00000170953ENST00000306842p.D179Ec.537C>ASubstitution - Missense
ARHGAP32ENSG00000134909ENST00000310343p.A1779Ac.5337G>ASubstitution - coding silent
ARHGAP32ENSG00000134909ENST00000392657p.A1430Ac.4290G>ASubstitution - coding silent
LRP4ENSG00000134569ENST00000378623p.G1151Dc.3452G>ASubstitution - Missense
C1orf61ENSG00000125462ENST00000368243p.R56Rc.168G>TSubstitution - coding silent
C1orf61ENSG00000125462ENST00000368242p.R88Lc.263G>TSubstitution - Missense
FHAD1ENSG00000142621ENST00000375999p.K781Nc.2343G>CSubstitution - Missense
OR10R2ENSG00000198965ENST00000368152p.N131Kc.393C>GSubstitution - Missense
FCRL1ENSG00000163534ENST00000368176p.S271Cc.812C>GSubstitution - Missense
ENST00000328408p.C279*c.837C>ASubstitution - Nonsense
AIM2ENSG00000163568ENST00000368130p.D308Nc.922G>ASubstitution - Missense
MBD6ENSG00000166987ENST00000355673p.?c.114-3C>TUnknown
ENST00000327087_v68p.E331Gc.992A>GSubstitution - Missense
ANO2ENSG00000047617ENST00000546188p.E332Gc.995A>GSubstitution - Missense
ANO2ENSG00000047617ENST00000327087p.E331Gc.992A>GSubstitution - Missense
NCAPD2ENSG00000010292ENST00000315579p.E281Qc.841G>CSubstitution - Missense
METTL25ENSG00000127720ENST00000248306p.?c.1573-1G>TUnknown
OBSCNENSG00000154358ENST00000570156p.L2816Rc.8447T>GSubstitution - Missense
SU_OBSCN.1p.L2686Rc.8057T>GSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.L2632Rc.7895T>GSubstitution - Missense


COSMIC

0 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