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CW-2 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

16643 mutations reported
5191 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
TEX11ENSG00000120498ENST00000395889p.N912Ic.2735A>TSubstitution - Missense
ALADENSG00000148218ENST00000448137p.Q11*c.31C>TSubstitution - Nonsense
COL4A5ENSG00000188153ENST00000328300p.P795Hc.2384C>ASubstitution - Missense
TENM3ENSG00000218336ENST00000511685p.G606*c.1816G>TSubstitution - Nonsense
DOCK2ENSG00000134516ENST00000256935p.Y1617Yc.4851C>TSubstitution - coding silent
NEIL3ENSG00000109674ENST00000264596p.P467Pc.1401G>ASubstitution - coding silent
SMIM23ENSG00000185662ENST00000330910p.Q75Rc.224A>GSubstitution - Missense
HK3ENSG00000160883ENST00000292432p.S29Rc.87C>ASubstitution - Missense
SNX18ENSG00000178996ENST00000326277p.A416fs*43c.1239_1240insCCInsertion - Frameshift
CDK5RAP2ENSG00000136861ENST00000349780p.A149Tc.445G>ASubstitution - Missense
UBR3ENSG00000144357ENST00000418381p.S1260Sc.3780C>ASubstitution - coding silent
MAP3K13ENSG00000073803ENST00000424227p.A292Ac.876G>ASubstitution - coding silent
MAP3K13ENSG00000073803ENST00000424227p.S695Sc.2085C>TSubstitution - coding silent
USP20ENSG00000136878ENST00000315480p.E135Dc.405G>TSubstitution - Missense
KLHL24ENSG00000114796ENST00000242810p.I548fs*18c.1636_1637delATDeletion - Frameshift
SPTBN2ENSG00000173898ENST00000529997p.E308Dc.924G>CSubstitution - Missense
INPP5FENSG00000198825ENST00000369080p.S453Gc.1357A>GSubstitution - Missense
CYP2C8ENSG00000138115ENST00000539050p.N132Ic.395A>TSubstitution - Missense
PFKFB3ENSG00000170525ENST00000536985p.F104Fc.312C>TSubstitution - coding silent
OR51L1ENSG00000176798ENST00000321543p.C181Cc.543T>CSubstitution - coding silent
PCDH9ENSG00000184226ENST00000377861p.D247Vc.740A>TSubstitution - Missense
ENST00000545759p.F16Lc.46T>CSubstitution - Missense
EP400ENSG00000183495ENST00000333577p.P1164Pc.3492C>TSubstitution - coding silent
RAP1GAPENSG00000076864ENST00000542643p.T252Tc.756C>TSubstitution - coding silent
PLEKHG5ENSG00000171680ENST00000535355p.R613Hc.1838G>ASubstitution - Missense
CSMD2ENSG00000121904ENST00000373388p.E62Kc.184G>ASubstitution - Missense
CAPN10ENSG00000142330ENST00000391982p.E233fs*52c.695delGDeletion - Frameshift
ENST00000544394p.I153fs*7c.452_453insCInsertion - Frameshift
CNKSR2ENSG00000149970ENST00000279451p.K490fs*31c.1465delADeletion - Frameshift
PHEXENSG00000102174ENST00000418858p.S59fs*37c.172delGDeletion - Frameshift
TTC3ENSG00000182670ENST00000540756p.S551fs*2c.1646_1647insTInsertion - Frameshift
SLMAPENSG00000163681ENST00000428312p.?c.419+7A>GUnknown
CLASP2ENSG00000163539ENST00000480013p.?c.2659-2A>GUnknown
CBWD1ENSG00000172785ENST00000314367p.?c.382+49_420+957del2455Unknown
TTYH1ENSG00000167614ENST00000391739p.?c.1216+10C>AUnknown
NLRP9ENSG00000185792ENST00000590200p.A539Sc.1615G>TSubstitution - Missense
SCN1AENSG00000144285ENST00000423058p.P358Pc.1074C>ASubstitution - coding silent
NR2F2ENSG00000185551ENST00000421109p.V121Ac.362T>CSubstitution - Missense
DEPDC5ENSG00000100150ENST00000400242p.L97Ic.289C>ASubstitution - Missense
OSBP2ENSG00000184792ENST00000382310p.Q102Qc.306G>ASubstitution - coding silent
ENST00000381630p.W62Lc.185G>TSubstitution - Missense
MYO1CENSG00000197879ENST00000359786p.Q869Qc.2607G>ASubstitution - coding silent
PHLPP2ENSG00000040199ENST00000360429p.V851Ac.2552T>CSubstitution - Missense
WFDC3ENSG00000124116ENST00000243938p.L43Mc.127C>ASubstitution - Missense
EIF4G3ENSG00000075151ENST00000356916p.Q209fs*43c.625delCDeletion - Frameshift
OR4A15ENSG00000181958ENST00000314706p.V334fs*>12c.999_1000insAInsertion - Frameshift
LEPRENSG00000116678ENST00000371059p.Q501fs*14c.1495_1496insTInsertion - Frameshift
ENST00000360245p.A75fs*3c.217_218insTInsertion - Frameshift
PDE10AENSG00000112541ENST00000539869p.L557Rc.1670T>GSubstitution - Missense
PCDHAC1ENSG00000248383ENST00000409700p.D207Dc.621C>TSubstitution - coding silent
FAM64AENSG00000129195ENST00000250056p.P67Sc.199C>TSubstitution - Missense
CACNA1IENSG00000100346ENST00000400164p.?c.5560-5T>GUnknown
CDKL4ENSG00000205111ENST00000378803p.G197Dc.590G>ASubstitution - Missense
COL4A5ENSG00000188153ENST00000328300p.P1059Pc.3177T>CSubstitution - coding silent
PCDH11XENSG00000102290ENST00000361724p.A832Vc.2495C>TSubstitution - Missense
BCAP29ENSG00000075790ENST00000379121p.N51Dc.151A>GSubstitution - Missense
MED23ENSG00000112282ENST00000403834p.C852Yc.2555G>ASubstitution - Missense
MAST4ENSG00000069020ENST00000403666p.K1083Kc.3249G>ASubstitution - coding silent
BAI3ENSG00000135298ENST00000238918p.A152Vc.455C>TSubstitution - Missense
SLC22A16ENSG00000004809ENST00000330550p.A166Tc.496G>ASubstitution - Missense
STRADBENSG00000082146ENST00000392249p.M1Ic.3G>ASubstitution - Missense
ENST00000378024_v70p.G1105Sc.3313G>ASubstitution - Missense
GDI2ENSG00000057608ENST00000380132p.R244Sc.732G>TSubstitution - Missense
XPO7ENSG00000130227ENST00000434536p.N1092Dc.3274A>GSubstitution - Missense
PRSS3ENSG00000010438ENST00000429677p.A83Tc.247G>ASubstitution - Missense
UNC13BENSG00000198722ENST00000396787p.S462Pc.1384T>CSubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.N1334Dc.4000A>GSubstitution - Missense
COL21A1ENSG00000124749ENST00000244728p.L313Sc.938T>CSubstitution - Missense
PLEKHH3ENSG00000068137ENST00000293349p.P182Pc.546A>GSubstitution - coding silent
FBN2ENSG00000138829ENST00000262464p.Q2688*c.8062C>TSubstitution - Nonsense
MSH6ENSG00000116062ENST00000234420p.A1055Tc.3163G>ASubstitution - Missense
NM_133638.1p.C580fs*19c.1738_1739insTInsertion - Frameshift
NM_133638.1p.Q1189Rc.3566A>GSubstitution - Missense
LRBAENSG00000198589ENST00000357115p.A1059Pc.3175G>CSubstitution - Missense
ADD1ENSG00000087274ENST00000264758p.?c.1608+8C>AUnknown
DCHS2ENSG00000197410ENST00000357232p.D1322Dc.3966C>TSubstitution - coding silent
TLE4ENSG00000106829ENST00000376520p.S391Rc.1171A>CSubstitution - Missense
FCN1ENSG00000085265ENST00000371806p.Y312Cc.935A>GSubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.V723Ic.2167G>ASubstitution - Missense
USP6ENSG00000129204ENST00000250066p.?c.276+8G>AUnknown
MSI2ENSG00000153944ENST00000284073p.F44Fc.132T>CSubstitution - coding silent
MED23ENSG00000112282ENST00000540546p.G128fs*11c.383delGDeletion - Frameshift
MYO19ENSG00000141140ENST00000431794p.A380Tc.1138G>ASubstitution - Missense
ENST00000576222_v68p.P808Pc.2424G>ASubstitution - coding silent
ENSG00000272333ENST00000222270p.L1745Lc.5235G>ASubstitution - coding silent
VMP1ENSG00000062716ENST00000262291p.A244Vc.731C>TSubstitution - Missense
ENST00000382851p.A49Tc.145G>ASubstitution - Missense
TNIKENSG00000154310ENST00000436636p.P709Hc.2126C>ASubstitution - Missense
FAT2ENSG00000086570ENST00000261800p.A3241Tc.9721G>ASubstitution - Missense
NUB1ENSG00000013374ENST00000566856p.D96fs*17c.279delADeletion - Frameshift
PCDHA5ENSG00000204965ENST00000529859p.L738Lc.2214G>ASubstitution - coding silent
MZB1ENSG00000170476ENST00000302125p.G19Rc.55G>ASubstitution - Missense
SLFN5ENSG00000166750ENST00000299977p.Q131Hc.393G>TSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.L196Pc.587T>CSubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.L3729Mc.11185C>ASubstitution - Missense
STAG3ENSG00000066923ENST00000426455p.G944Gc.2832G>ASubstitution - coding silent
EGFRENSG00000146648ENST00000275493p.G640fs*3c.1917_1918insTInsertion - Frameshift
RP1L1ENSG00000183638ENST00000382483p.G2258*c.6772G>TSubstitution - Nonsense
NPC1L1ENSG00000015520ENST00000289547p.T775Tc.2325C>ASubstitution - coding silent
OMDENSG00000127083ENST00000375550p.N281Nc.843C>TSubstitution - coding silent
ATP11CENSG00000101974ENST00000361648p.N62Ic.185A>TSubstitution - Missense
GTF2H4ENSG00000213780ENST00000259895p.A356Tc.1066G>ASubstitution - Missense
WNT2ENSG00000105989ENST00000265441p.G155Sc.463G>ASubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.T1465Ic.4394C>TSubstitution - Missense
EVC2ENSG00000173040ENST00000344408p.Q1049Qc.3147G>ASubstitution - coding silent
ISPDENSG00000214960ENST00000407010p.Y336Yc.1008C>TSubstitution - coding silent
SERPIND1ENSG00000099937ENST00000215727p.Y480Yc.1440C>TSubstitution - coding silent
P2RX6ENSG00000099957ENST00000336296p.V254Ic.760G>ASubstitution - Missense
FAPENSG00000078098ENST00000188790p.A497Vc.1490C>TSubstitution - Missense
GPR112ENSG00000156920ENST00000394143p.R2296Kc.6887G>ASubstitution - Missense
SIRT6ENSG00000077463ENST00000337491p.P27fs*133c.80delCDeletion - Frameshift
B9D2ENSG00000123810ENST00000243578p.R75Wc.223C>TSubstitution - Missense
PDE1CENSG00000154678ENST00000396191p.V337Ac.1010T>CSubstitution - Missense
TNRC6AENSG00000090905ENST00000395799p.Q606*c.1816C>TSubstitution - Nonsense
SYDE1ENSG00000105137ENST00000342784p.P706Sc.2116C>TSubstitution - Missense
USHBP1ENSG00000130307ENST00000252597p.V618Mc.1852G>ASubstitution - Missense
NOTCH3ENSG00000074181ENST00000263388p.?c.5914-9G>CUnknown
DHX35ENSG00000101452ENST00000252011p.?c.267+6T>CUnknown
ENST00000251268_v61p.D2518Gc.7553A>GSubstitution - Missense
TP53TG5ENSG00000124251ENST00000372726p.R150Qc.449G>ASubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.Q1111*c.3331C>TSubstitution - Nonsense
WFDC5ENSG00000175121ENST00000372789p.R115Qc.344G>ASubstitution - Missense
PSG11ENSG00000243130ENST00000401740p.S226Nc.677G>ASubstitution - Missense
SNX21ENSG00000124104ENST00000491381p.L367Fc.1099C>TSubstitution - Missense
LPHN1ENSG00000072071ENST00000340736p.A981Tc.2941G>ASubstitution - Missense
DHX38ENSG00000140829ENST00000268482p.G96Gc.288C>TSubstitution - coding silent
ANO8ENSG00000074855ENST00000159087p.M976Ic.2928G>TSubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.E498Ec.1494G>ASubstitution - coding silent
NOTCH3ENSG00000074181ENST00000263388p.R1231fs*34c.3686_3687insTInsertion - Frameshift
FNIP2ENSG00000052795ENST00000264433p.A992Tc.2974G>ASubstitution - Missense
DDX4ENSG00000152670ENST00000505374p.T245Tc.735C>ASubstitution - coding silent
SEMA3CENSG00000075223ENST00000265361p.?c.987-8T>CUnknown
COL28A1ENSG00000215018ENST00000399429p.G245Ec.734G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.Q2754Hc.8262G>CSubstitution - Missense
NM_014614.1p.A879Ac.2637C>TSubstitution - coding silent
CXorf23ENSG00000173681ENST00000379687p.T654Tc.1962T>CSubstitution - coding silent
RUNDC3BENSG00000105784ENST00000338056p.S246Rc.736A>CSubstitution - Missense
PPP2R5DENSG00000112640ENST00000485511p.L585Pc.1754T>CSubstitution - Missense
PLOD3ENSG00000106397ENST00000223127p.?c.1935+4C>TUnknown
KIF6ENSG00000164627ENST00000287152p.L202Fc.604C>TSubstitution - Missense
DNAH8ENSG00000124721ENST00000359357p.R628*c.1882A>TSubstitution - Nonsense
ENST00000380389p.E90Ec.270G>ASubstitution - coding silent
RTN4ENSG00000115310ENST00000394609p.V26Mc.76G>ASubstitution - Missense
HEG1ENSG00000173706ENST00000311127p.A653Tc.1957G>ASubstitution - Missense
C3orf27ENSG00000198685ENST00000356020p.R89Gc.265A>GSubstitution - Missense
ALDH1L1ENSG00000144908ENST00000393434p.G402Gc.1206C>TSubstitution - coding silent
SLC1A4ENSG00000115902ENST00000234256p.P446Lc.1337C>TSubstitution - Missense
CLASRPENSG00000104859ENST00000221455p.R240Qc.719G>ASubstitution - Missense
MVPENSG00000013364ENST00000395353p.P853Sc.2557C>TSubstitution - Missense
SH2B1ENSG00000178188ENST00000337120p.R475fs*5c.1423_1424insCInsertion - Frameshift
SULT2B1ENSG00000088002ENST00000201586p.L176Pc.527T>CSubstitution - Missense
SRCAPENSG00000080603ENST00000262518p.E2325*c.6973G>TSubstitution - Nonsense
SMPD4ENSG00000136699ENST00000409031p.G718Gc.2154G>ASubstitution - coding silent
CLN3ENSG00000188603ENST00000359984p.L356Lc.1068G>ASubstitution - coding silent
FBRSENSG00000156860ENST00000356166p.A710Ac.2130C>ASubstitution - coding silent
TAOK2ENSG00000149930ENST00000308893p.P852Sc.2554C>TSubstitution - Missense
PSMC2ENSG00000161057ENST00000292644p.G242*c.724G>TSubstitution - Nonsense
ADAMTSL1ENSG00000178031ENST00000380548p.R213Rc.639A>GSubstitution - coding silent
ENST00000373468p.L788fs*8c.2357_2358insTInsertion - Frameshift
PHF8ENSG00000172943ENST00000338154p.?c.294-8G>AUnknown
KCNN1ENSG00000105642ENST00000222249p.G259Gc.777C>TSubstitution - coding silent
MCM6ENSG00000076003ENST00000264156p.?c.2350-1G>TUnknown
FBLN2ENSG00000163520ENST00000492059p.G985Dc.2954G>ASubstitution - Missense
NM_006596.3p.T1529Ac.4585A>GSubstitution - Missense
RAB3GAP1ENSG00000115839ENST00000264158p.L424Sc.1271T>CSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.?c.2504-3T>CUnknown
ZNF100ENSG00000197020ENST00000358296p.P34Sc.100C>TSubstitution - Missense
CDCP1ENSG00000163814ENST00000296129p.E442Dc.1326G>TSubstitution - Missense
ITPR1ENSG00000150995ENST00000456211p.M2262Tc.6785T>CSubstitution - Missense
TNPO1ENSG00000083312ENST00000506351p.G225Ac.674G>CSubstitution - Missense
ANO10ENSG00000160746ENST00000292246p.L179Lc.535C>TSubstitution - coding silent
BHMTENSG00000145692ENST00000274353p.S95Sc.285T>CSubstitution - coding silent
BRD1ENSG00000100425ENST00000216267p.V248Ac.743T>CSubstitution - Missense
CCR1ENSG00000163823ENST00000296140p.R335Rc.1005G>ASubstitution - coding silent
ZBED4ENSG00000100426ENST00000216268p.N548fs*9c.1643_1644insAInsertion - Frameshift
SLC6A20ENSG00000163817ENST00000358525p.S406Ic.1217G>TSubstitution - Missense
NBEAL2ENSG00000160796ENST00000292309p.S1423fs*5c.4261delCDeletion - Frameshift
ZNF14ENSG00000105708ENST00000344099p.Q236Qc.708A>GSubstitution - coding silent
TAF1ENSG00000147133ENST00000373790p.R1121Rc.3363G>ASubstitution - coding silent
MAGEE1ENSG00000198934ENST00000361470p.Q881Qc.2643G>ASubstitution - coding silent
AK9ENSG00000155085ENST00000424296p.I1515Nc.4544T>ASubstitution - Missense
SGSM3ENSG00000100359ENST00000248929p.G315Dc.944G>ASubstitution - Missense
GCNT2ENSG00000111846ENST00000265012p.P133fs*8c.395delCDeletion - Frameshift
RALBP1ENSG00000017797ENST00000019317p.Q619Hc.1857G>TSubstitution - Missense
VCANENSG00000038427ENST00000265077p.V398Vc.1194G>ASubstitution - coding silent
ZADH2ENSG00000180011ENST00000322342p.P30Pc.90C>TSubstitution - coding silent
TSHZ1ENSG00000179981ENST00000322038p.Q338Rc.1013A>GSubstitution - Missense
PCDH11XENSG00000102290ENST00000504220p.K180fs*22c.538delADeletion - Frameshift
PTPN23ENSG00000076201ENST00000265562p.L1548fs*36c.4639delCDeletion - Frameshift
CSMD3ENSG00000164796ENST00000297405p.D376Dc.1128T>CSubstitution - coding silent
KIAA1958ENSG00000165185ENST00000374244p.P324Pc.972C>ASubstitution - coding silent
GRIN3AENSG00000198785ENST00000361820p.G159Gc.477C>TSubstitution - coding silent
FKTNENSG00000106692ENST00000223528p.A11Vc.32C>TSubstitution - Missense
ABCA1ENSG00000165029ENST00000374736p.L164Fc.490C>TSubstitution - Missense
ZNF451ENSG00000112200ENST00000370706p.F473Lc.1417T>CSubstitution - Missense
BCL2ENSG00000171791ENST00000398117p.E200Dc.600A>TSubstitution - Missense
TRAT1ENSG00000163519ENST00000295756p.I70Vc.208A>GSubstitution - Missense
BZW1ENSG00000082153ENST00000452790p.M297Vc.889A>GSubstitution - Missense
CIB4ENSG00000157884ENST00000288861p.F178Fc.534T>CSubstitution - coding silent
ABI3BPENSG00000154175ENST00000284322p.V256Mc.766G>ASubstitution - Missense
FAM117BENSG00000138439ENST00000392238p.V383fs*120c.1138delCDeletion - Frameshift
NM_003319p.D6194Dc.18582C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.W20985*c.62955G>ASubstitution - Nonsense
PATZ1ENSG00000100105ENST00000266269p.?c.1335+4G>AUnknown
CACNG7ENSG00000105605ENST00000391767p.T201Ac.601A>GSubstitution - Missense
PISDENSG00000241878ENST00000439502p.?c.66-1G>AUnknown
FBXO7ENSG00000100225ENST00000266087p.W392Cc.1176G>TSubstitution - Missense
CABLES2ENSG00000149679ENST00000279101p.?c.881-3C>TUnknown
BCKDKENSG00000103507ENST00000394951p.?c.846-6G>AUnknown
SPG7ENSG00000197912ENST00000268704p.Y195Yc.585C>TSubstitution - coding silent
NETO2ENSG00000171208ENST00000562435p.D119Ac.356A>CSubstitution - Missense
ZNF600ENSG00000189190ENST00000338230p.C207Rc.619T>CSubstitution - Missense
ZNF701ENSG00000167562ENST00000540331p.Q95*c.283C>TSubstitution - Nonsense
DNASE1ENSG00000213918ENST00000246949p.P159fs*5c.473delCDeletion - Frameshift
TRAPPC12ENSG00000171853ENST00000382110p.H569Rc.1706A>GSubstitution - Missense
EHD3ENSG00000013016ENST00000322054p.P110Hc.329C>ASubstitution - Missense
OR5K2ENSG00000231861ENST00000427338p.V69Mc.205G>ASubstitution - Missense
HEATR5BENSG00000008869ENST00000233099p.A1344Vc.4031C>TSubstitution - Missense
KAT2BENSG00000114166ENST00000263754p.P804Sc.2410C>TSubstitution - Missense
MTMR14ENSG00000163719ENST00000296003p.S120Ic.359G>TSubstitution - Missense
ENST00000338885p.F91Sc.272T>CSubstitution - Missense
EPN1ENSG00000063245ENST00000411543p.A163Tc.487G>ASubstitution - Missense
ZNF551ENSG00000204519ENST00000282296p.C321Rc.961T>CSubstitution - Missense
ZNF182ENSG00000147118ENST00000376943p.H569Qc.1707T>ASubstitution - Missense
DDX3XENSG00000215301ENST00000399959p.I214Tc.641T>CSubstitution - Missense
RNF149ENSG00000163162ENST00000295317p.?c.711+5T>CUnknown
POLBENSG00000070501ENST00000265421p.N128fs*2c.383_384insAInsertion - Frameshift
CCSER1ENSG00000184305ENST00000432775p.I377Lc.1129A>TSubstitution - Missense
RPGRENSG00000156313ENST00000378505p.K597Kc.1791A>GSubstitution - coding silent
NUTF2ENSG00000102898ENST00000219169p.L105Ic.313T>ASubstitution - Missense
ENTPD3ENSG00000168032ENST00000301825p.K270Kc.810G>ASubstitution - coding silent
SMARCAD1ENSG00000163104ENST00000354268p.N105Kc.315T>ASubstitution - Missense
CNTN4ENSG00000144619ENST00000418658p.T210Ic.629C>TSubstitution - Missense
RANBP2ENSG00000153201ENST00000283195p.G1102Gc.3306A>GSubstitution - coding silent
CLASP2ENSG00000163539ENST00000539981p.E755*c.2263G>TSubstitution - Nonsense
ZNF772ENSG00000197128ENST00000343280p.C299Yc.896G>ASubstitution - Missense
ABCA9ENSG00000154258ENST00000340001p.M166fs*4c.490_491insAInsertion - Frameshift
ZNF547ENSG00000152433ENST00000282282p.S312Nc.935G>ASubstitution - Missense
ENST00000269290p.?c.292-2T>CUnknown
ELF2ENSG00000109381ENST00000394235p.C212Yc.635G>ASubstitution - Missense
ANKRD50ENSG00000151458ENST00000504087p.H296Hc.888C>TSubstitution - coding silent
EXOSC9ENSG00000123737ENST00000379663p.N79fs*1c.234_235insTInsertion - Frameshift
JADE1ENSG00000077684ENST00000226319p.R140Rc.420C>ASubstitution - coding silent
JADE1ENSG00000077684ENST00000226319p.G632Gc.1896T>GSubstitution - coding silent
MAML1ENSG00000161021ENST00000292599p.P435Lc.1304C>TSubstitution - Missense
PDZD2ENSG00000133401ENST00000282493p.S898Sc.2694G>TSubstitution - coding silent
CDH10ENSG00000040731ENST00000264463p.R478Sc.1434A>TSubstitution - Missense
PCGF1ENSG00000115289ENST00000233630p.P215Sc.643C>TSubstitution - Missense
NM_032673.1p.P203Sc.607C>TSubstitution - Missense
C2orf81ENSG00000159239ENST00000290390p.R416Rc.1248A>GSubstitution - coding silent
CTNNA2ENSG00000066032ENST00000466387p.?c.2431-5T>CUnknown
SLC9A9ENSG00000181804ENST00000316549p.L305Lc.915G>ASubstitution - coding silent
FGD5ENSG00000154783ENST00000285046p.A421Vc.1262C>TSubstitution - Missense
HK2ENSG00000159399ENST00000290573p.R30Hc.89G>ASubstitution - Missense
FIGFENSG00000165197ENST00000297904p.C117Yc.350G>ASubstitution - Missense
SEMA3AENSG00000075213ENST00000265362p.N614Kc.1842T>ASubstitution - Missense
IRAK1ENSG00000184216ENST00000369980p.P145Pc.435A>GSubstitution - coding silent
CTAG2ENSG00000126890ENST00000247306p.A71Ac.213G>ASubstitution - coding silent
PHKA2ENSG00000044446ENST00000379942p.?c.618+2T>CUnknown
OTTHUMT00000057774.1p.L294Mc.880C>ASubstitution - Missense
MIEF2ENSG00000177427ENST00000323019p.P181fs*98c.535delGDeletion - Frameshift
RAI1ENSG00000108557ENST00000353383p.K48Ec.142A>GSubstitution - Missense
FBF1ENSG00000188878ENST00000319129p.H761Hc.2283C>TSubstitution - coding silent
COL4A5ENSG00000188153ENST00000361603p.R1410Cc.4228C>TSubstitution - Missense
XM_290732.4p.T1086Ac.3256A>GSubstitution - Missense
SU_WNK2p.T1027Ic.3080C>TSubstitution - Missense
ZNF800ENSG00000048405ENST00000393312p.D566Vc.1697A>TSubstitution - Missense
CCINENSG00000185972ENST00000335119p.A325Vc.974C>TSubstitution - Missense
STX16ENSG00000124222ENST00000361830p.?c.253-7T>GUnknown
MCM8ENSG00000125885ENST00000378896p.S747Ic.2240G>TSubstitution - Missense
E2F1ENSG00000101412ENST00000343380p.N172Nc.516C>TSubstitution - coding silent
GNASENSG00000087460ENST00000371100p.R926Cc.2776C>TSubstitution - Missense
NLKENSG00000087095ENST00000407008p.P40Hc.119C>ASubstitution - Missense
FBXO16ENSG00000214050ENST00000380254p.P171Sc.511C>TSubstitution - Missense
ATXN7ENSG00000163635ENST00000398590p.H934Yc.2800C>TSubstitution - Missense
FAM160B2ENSG00000158863ENST00000289921p.L170Lc.510C>TSubstitution - coding silent
FLNBENSG00000136068ENST00000295956p.R999Wc.2995C>TSubstitution - Missense
FAM189A2ENSG00000135063ENST00000257515p.R108Cc.322C>TSubstitution - Missense
ENST00000380086p.H262Lc.785A>TSubstitution - Missense
HMHA1ENSG00000180448ENST00000313093p.C1128Cc.3384C>TSubstitution - coding silent
ENST00000426869p.L44Lc.132G>CSubstitution - coding silent
NSRP1ENSG00000126653ENST00000247026p.D34Gc.101A>GSubstitution - Missense
ALDOCENSG00000109107ENST00000395321p.V105Mc.313G>ASubstitution - Missense
DHRS7BENSG00000109016ENST00000395511p.P237Lc.710C>TSubstitution - Missense
OSR2ENSG00000164920ENST00000457907p.P116Pc.348C>TSubstitution - coding silent
RIPK2ENSG00000104312ENST00000220751p.I307Tc.920T>CSubstitution - Missense
CEP112ENSG00000154240ENST00000535342p.G54Cc.160G>TSubstitution - Missense
NM_015009.1p.S450Sc.1350T>CSubstitution - coding silent
CNTN3ENSG00000113805ENST00000263665p.T645Pc.1933A>CSubstitution - Missense
CBSENSG00000160200ENST00000398168p.?c.955-5C>TUnknown
KIDINS220ENSG00000134313ENST00000256707p.A239Tc.715G>ASubstitution - Missense
DLGAP1ENSG00000170579ENST00000315677p.D63Dc.189C>TSubstitution - coding silent
PIK3C3ENSG00000078142ENST00000262039p.G240Dc.719G>ASubstitution - Missense
TCP10LENSG00000242220ENST00000300258p.D187Vc.560A>TSubstitution - Missense
URB1ENSG00000142207ENST00000382751p.C1641fs*10c.4920delCDeletion - Frameshift
RUFY3ENSG00000018189ENST00000381006p.?c.825-7A>GUnknown
AFPENSG00000081051ENST00000395792p.Q36Rc.107A>GSubstitution - Missense
CES1ENSG00000198848ENST00000360526p.S227Ic.680G>TSubstitution - Missense
IRX5ENSG00000176842ENST00000394636p.T178Sc.532A>TSubstitution - Missense
ENST00000340816p.V109Mc.325G>ASubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.P1512Lc.4535C>TSubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.P1512Lc.4535C>TSubstitution - Missense
FRYLENSG00000075539ENST00000503238p.H998Hc.2994C>TSubstitution - coding silent
HGFACENSG00000109758ENST00000382774p.P628Sc.1882C>TSubstitution - Missense
FAM114A1ENSG00000197712ENST00000358869p.T401Tc.1203C>TSubstitution - coding silent
NM_016507p.I873Nc.2618T>ASubstitution - Missense
NM_147171.1p.Y2870Cc.8609A>GSubstitution - Missense
SU_Erk7p.S381Fc.1142C>TSubstitution - Missense
ENST00000357934p.A80Tc.238G>ASubstitution - Missense
SCRIBENSG00000180900ENST00000356994p.L1242Vc.3724C>GSubstitution - Missense
ENST00000355436p.L488Mc.1462T>ASubstitution - Missense
ZNF34ENSG00000196378ENST00000343459p.E436*c.1306G>TSubstitution - Nonsense
IFRD2ENSG00000214706ENST00000336089p.D228fs*17c.682_683insGGInsertion - Frameshift
SULF1ENSG00000137573ENST00000260128p.H642Yc.1924C>TSubstitution - Missense
CDCA7ENSG00000144354ENST00000306721p.Y22Cc.65A>GSubstitution - Missense
BPIFB2ENSG00000078898ENST00000170150p.?c.456-5C>TUnknown
NM_052947p.A1172Vc.3515C>TSubstitution - Missense
ARHGEF15ENSG00000198844ENST00000361926p.R604Cc.1810C>TSubstitution - Missense
CEP192ENSG00000101639ENST00000506447p.V891Vc.2673T>CSubstitution - coding silent
ZFHX4ENSG00000091656ENST00000521891p.K1177Nc.3531G>TSubstitution - Missense
LOXHD1ENSG00000167210ENST00000536736p.N2051Dc.6151A>GSubstitution - Missense
ENST00000262095p.*505Lc.1514G>TNonstop extension
CTC1ENSG00000178971ENST00000315684p.P1114Lc.3341C>TSubstitution - Missense
DUTENSG00000128951ENST00000455976p.?c.439-7C>TUnknown
AKR1A1ENSG00000117448ENST00000372070p.?c.356+5G>AUnknown
NASPENSG00000132780ENST00000350030p.A669Tc.2005G>ASubstitution - Missense
ATG2BENSG00000066739ENST00000359933p.K1007Kc.3021A>GSubstitution - coding silent
NPR1ENSG00000169418ENST00000368680p.N607fs*21c.1818_1819insCInsertion - Frameshift
FLG2ENSG00000143520ENST00000388718p.G522Ec.1565G>ASubstitution - Missense
ADARENSG00000160710ENST00000368474p.G1148Vc.3443G>TSubstitution - Missense
DISP2ENSG00000140323ENST00000267889p.L173Lc.517C>TSubstitution - coding silent
KTN1ENSG00000126777ENST00000416613p.M1Tc.2T>CSubstitution - Missense
SPINT1ENSG00000166145ENST00000344051p.S53Gc.157A>GSubstitution - Missense
UNC79ENSG00000133958ENST00000256339p.E2283Gc.6848A>GSubstitution - Missense
GPHNENSG00000171723ENST00000478722p.I342Vc.1024A>GSubstitution - Missense
TRIP4ENSG00000103671ENST00000261884p.I540Nc.1619T>ASubstitution - Missense
TPM1ENSG00000140416ENST00000358278p.K7delKc.13_15delAAGDeletion - In frame
FOXN3ENSG00000053254ENST00000557258p.Y117fs*21c.348delCDeletion - Frameshift
SMPDL3BENSG00000130768ENST00000373888p.L70Rc.209T>GSubstitution - Missense
CLCA1ENSG00000016490ENST00000234701p.Q462Rc.1385A>GSubstitution - Missense
ICMTENSG00000116237ENST00000362035p.Y110fs*3c.324delTDeletion - Frameshift
PDE4BENSG00000184588ENST00000423207p.?c.797-4G>AUnknown
RPE65ENSG00000116745ENST00000262340p.M276Ic.828G>TSubstitution - Missense
WDR63ENSG00000162643ENST00000294664p.H430Yc.1288C>TSubstitution - Missense
ING1ENSG00000153487ENST00000333219p.G242Gc.726G>ASubstitution - coding silent
CLN6ENSG00000128973ENST00000249806p.L255Lc.763C>TSubstitution - coding silent
PARP4ENSG00000102699ENST00000381989p.?c.2298+1G>AUnknown
RALGAPA2ENSG00000188559ENST00000430436p.S1432Sc.4296T>CSubstitution - coding silent
ENST00000278816p.E476Ec.1428A>GSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.Q4472Qc.13416A>GSubstitution - coding silent
ENST00000393466p.E1181Ac.3542A>CSubstitution - Missense
RRBP1ENSG00000125844ENST00000360807p.A133Vc.398C>TSubstitution - Missense
RRBP1ENSG00000125844ENST00000377813p.A133Vc.398C>TSubstitution - Missense
CLEC3AENSG00000166509ENST00000575655p.C167Yc.500G>ASubstitution - Missense
OR1M1ENSG00000170929ENST00000429566p.L245Lc.733C>TSubstitution - coding silent
DSTNENSG00000125868ENST00000246069p.V7Vc.21A>GSubstitution - coding silent
NOL9ENSG00000162408ENST00000377705p.L275Rc.824T>GSubstitution - Missense
LEPRENSG00000116678ENST00000344610p.Y607Yc.1821T>CSubstitution - coding silent
SGIP1ENSG00000118473ENST00000435165p.F324fs*>10c.970delTDeletion - Frameshift
FOXD3ENSG00000187140ENST00000371116p.K160Nc.480G>TSubstitution - Missense
LRRIQ3ENSG00000162620ENST00000395089p.S509fs*15c.1524_1525insAInsertion - Frameshift
CSPP1ENSG00000104218ENST00000262210p.R1095Hc.3284G>ASubstitution - Missense
STAG2ENSG00000101972ENST00000218089p.S1098Gc.3292A>GSubstitution - Missense
TDRD15ENSG00000218819ENST00000405799p.L215Lc.645G>ASubstitution - coding silent
ZNF557ENSG00000130544ENST00000252840p.H310Hc.930C>TSubstitution - coding silent
ZDBF2ENSG00000204186ENST00000374423p.L1061fs*7c.3176_3177insTInsertion - Frameshift
SMARCAL1ENSG00000138375ENST00000357276p.I661Mc.1983A>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.S3397Sc.10191T>CSubstitution - coding silent
ZNF385BENSG00000144331ENST00000409343p.T16Sc.46A>TSubstitution - Missense
UNC80ENSG00000144406ENST00000439458p.K709fs*75c.2123delADeletion - Frameshift
GPRASP2ENSG00000158301ENST00000543253p.P62Pc.186C>GSubstitution - coding silent
COL4A6ENSG00000197565ENST00000394872p.G1443*c.4327G>TSubstitution - Nonsense
COL4A6ENSG00000197565ENST00000394872p.H1149Hc.3447C>TSubstitution - coding silent
IL13RA2ENSG00000123496ENST00000371936p.?c.707-5T>CUnknown
KIAA1210ENSG00000250423ENST00000402510p.S1594Sc.4782T>CSubstitution - coding silent
NM_003069.2p.A576Tc.1726G>ASubstitution - Missense
FGD3ENSG00000127084ENST00000375482p.Q156fs*18c.462delCDeletion - Frameshift
SLC25A43ENSG00000077713ENST00000217909p.T132Pc.394A>CSubstitution - Missense
CUL4BENSG00000158290ENST00000404115p.L240Lc.720C>TSubstitution - coding silent
NSMAFENSG00000035681ENST00000427130p.Y63Hc.187T>CSubstitution - Missense
MCPH1ENSG00000147316ENST00000344683p.A307Tc.919G>ASubstitution - Missense
MCPH1ENSG00000147316ENST00000344683p.D618Nc.1852G>ASubstitution - Missense
XM_210042.4p.A149Gc.446C>GSubstitution - Missense
AIFM1ENSG00000156709ENST00000319908p.?c.462+8G>AUnknown
MBNL3ENSG00000076770ENST00000370853p.?c.1054-9C>TUnknown
MYO15AENSG00000091536ENST00000205890p.P402Qc.1205C>ASubstitution - Missense
CCDC144AENSG00000170160ENST00000360524p.P1135Hc.3404C>ASubstitution - Missense
LRRK2ENSG00000188906ENST00000298910p.N1489Nc.4467T>CSubstitution - coding silent
GLT8D2ENSG00000120820ENST00000360814p.F305Lc.913T>CSubstitution - Missense
ENST00000266746p.H116Yc.346C>TSubstitution - Missense
NUDT5ENSG00000165609ENST00000491614p.E20Dc.60G>TSubstitution - Missense
TACC2ENSG00000138162ENST00000369005p.A2468Vc.7403C>TSubstitution - Missense
PAX2ENSG00000075891ENST00000361791p.?c.410+9G>AUnknown
CNNM2ENSG00000148842ENST00000369878p.G274Gc.822C>TSubstitution - coding silent
GRHL3ENSG00000158055ENST00000236255p.?c.281+2T>CUnknown
GOLGA8FENSG00000153684ENST00000532622p.V319Ac.956T>CSubstitution - Missense
KLHDC9ENSG00000162755ENST00000392192p.Q235fs*>54c.700delCDeletion - Frameshift
MKRN3ENSG00000179455ENST00000314520p.R242Wc.724C>TSubstitution - Missense
PDE3BENSG00000152270ENST00000282096p.I712Kc.2135T>ASubstitution - Missense
ARHGAP30ENSG00000186517ENST00000368013p.R390*c.1168C>TSubstitution - Nonsense
COPAENSG00000122218ENST00000368069p.A307Vc.920C>TSubstitution - Missense
UEVLDENSG00000151116ENST00000543987p.Q260Rc.779A>GSubstitution - Missense
OTOGENSG00000188162ENST00000399397p.V1659Mc.4975G>ASubstitution - Missense
PRRC2CENSG00000117523ENST00000392078p.D1104Vc.3311A>TSubstitution - Missense
RABGAP1LENSG00000152061ENST00000347255p.L258Lc.772C>TSubstitution - coding silent
TXLNAENSG00000084652ENST00000373609p.L199Lc.595C>TSubstitution - coding silent
LEPRE1ENSG00000117385ENST00000296388p.A614Tc.1840G>ASubstitution - Missense
SETD1BENSG00000139718ENST00000542440p.P1598fs*38c.4787delGDeletion - Frameshift
POGZENSG00000143442ENST00000491586p.T876Nc.2627C>ASubstitution - Missense
GANCENSG00000214013ENST00000318010p.I610Fc.1828A>TSubstitution - Missense
DVL1ENSG00000107404ENST00000378891p.?c.605+1G>AUnknown
ZNF365ENSG00000138311ENST00000395255p.V211Ac.632T>CSubstitution - Missense
TPST2ENSG00000128294ENST00000398110p.R110Cc.328C>TSubstitution - Missense
LTBP2ENSG00000119681ENST00000261978p.D1045Nc.3133G>ASubstitution - Missense
AMPD1ENSG00000116748ENST00000520113p.A455Dc.1364C>ASubstitution - Missense
NM_032590.2p.R632Cc.1894C>TSubstitution - Missense
NM_015906p.C893Cc.2679C>TSubstitution - coding silent
HIVEP3ENSG00000127124ENST00000372583p.P1999Rc.5996C>GSubstitution - Missense
BTBD19ENSG00000222009ENST00000450269p.R151Hc.452G>ASubstitution - Missense
ASPMENSG00000066279ENST00000367409p.Q1970Hc.5910A>TSubstitution - Missense
ADAM21ENSG00000139985ENST00000267499p.N301fs*21c.896_897insAInsertion - Frameshift
HIPK3ENSG00000110422ENST00000303296p.T43Tc.129C>ASubstitution - coding silent
HIPK3ENSG00000110422ENST00000303296p.R236Cc.706C>TSubstitution - Missense
KMT2AENSG00000118058ENST00000534358p.L3210Ic.9628C>ASubstitution - Missense
CAPRIN1ENSG00000135387ENST00000341394p.L406Mc.1216C>ASubstitution - Missense
FBXO3ENSG00000110429ENST00000265651p.P357Pc.1071A>GSubstitution - coding silent
PCDH15ENSG00000150275ENST00000361849p.T911Sc.2731A>TSubstitution - Missense
NM_002849.2p.?c.358-3T>AUnknown
NCAM1ENSG00000149294ENST00000316851p.D153fs*22c.456_457insAInsertion - Frameshift
HTR3AENSG00000166736ENST00000355556p.A29Ac.87C>GSubstitution - coding silent
NTNG1ENSG00000162631ENST00000370068p.A179Vc.536C>TSubstitution - Missense
CLCC1ENSG00000121940ENST00000369971p.D427fs*2c.1279_1280delGADeletion - Frameshift
ENST00000377072_v68p.?c.2111+7G>AUnknown
YME1L1ENSG00000136758ENST00000326799p.W518*c.1553G>ASubstitution - Nonsense
ENST00000367393_v68p.G113Gc.339T>CSubstitution - coding silent
DNAH10ENSG00000197653ENST00000409039p.?c.6085-4G>AUnknown
PRAMEF11ENSG00000204513ENST00000535591p.G149Gc.447A>GSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369356p.N1455fs*9c.4358_4359insAInsertion - Frameshift
PDE4DIPENSG00000178104ENST00000313382p.N1411fs*9c.4226_4227insAInsertion - Frameshift
NM_002837.2p.V1437Ic.4309G>ASubstitution - Missense
KCNC2ENSG00000166006ENST00000549446p.R561Sc.1683A>TSubstitution - Missense
DLATENSG00000150768ENST00000280346p.E469Gc.1406A>GSubstitution - Missense
CHD4ENSG00000111642ENST00000357008p.E1613fs*1c.4830_4831insCInsertion - Frameshift
PCSK7ENSG00000160613ENST00000320934p.A81Ac.243A>GSubstitution - coding silent
CLSTN3ENSG00000139182ENST00000266546p.A451Dc.1352C>ASubstitution - Missense
NM_005158p.S489Ic.1466G>TSubstitution - Missense
CRNNENSG00000143536ENST00000271835p.Q316Hc.948G>TSubstitution - Missense
CYFIP1ENSG00000068793ENST00000313077p.?c.118-2A>GUnknown
GOLT1AENSG00000174567ENST00000308302p.?c.118-10T>CUnknown
TRIM49CENSG00000204449ENST00000448984p.W331*c.993G>ASubstitution - Nonsense
DNAH10ENSG00000197653ENST00000409039p.Q2917*c.8749C>TSubstitution - Nonsense
B4GALNT3ENSG00000139044ENST00000266383p.S339Sc.1017G>ASubstitution - coding silent
SIGLEC1ENSG00000088827ENST00000344754p.V302Ic.904G>ASubstitution - Missense
LILRB1ENSG00000104972ENST00000396331p.E564Kc.1690G>ASubstitution - Missense
TLDC1ENSG00000140950ENST00000343629p.Q364fs*>93c.1089delGDeletion - Frameshift
STSENSG00000101846ENST00000217961p.V89Ic.265G>ASubstitution - Missense
CACNA1AENSG00000141837ENST00000360228p.F1567Fc.4701C>TSubstitution - coding silent
SEC23BENSG00000101310ENST00000377465p.R530Wc.1588C>TSubstitution - Missense
ENST00000356127p.R17876Hc.53627G>ASubstitution - Missense
PRAMEF2ENSG00000120952ENST00000240189p.R399Hc.1196G>ASubstitution - Missense
FAM161BENSG00000156050ENST00000286544p.A521Vc.1562C>TSubstitution - Missense
SEMA6DENSG00000137872ENST00000558014p.R257Hc.770G>ASubstitution - Missense
NR1H3ENSG00000025434ENST00000441012p.Q201fs*13c.595delCDeletion - Frameshift
CNTN4ENSG00000144619ENST00000418658p.G54Gc.162A>GSubstitution - coding silent
NM_173527.1p.H133Hc.399C>TSubstitution - coding silent
GYG2ENSG00000056998ENST00000381163p.R304Rc.912C>TSubstitution - coding silent
MCM4ENSG00000104738ENST00000523944p.T629fs*18c.1879delADeletion - Frameshift
KLHL18ENSG00000114648ENST00000232766p.D239Dc.717C>TSubstitution - coding silent
FAM135AENSG00000082269ENST00000370479p.N786fs*5c.2350delADeletion - Frameshift
OR7C2ENSG00000127529ENST00000248072p.I105fs*17c.303_304insTInsertion - Frameshift
ROBO1ENSG00000169855ENST00000495273p.F719fs*28c.2157delTDeletion - Frameshift
SMCHD1ENSG00000101596ENST00000261598p.M227fs*12c.673delADeletion - Frameshift
AP4S1ENSG00000100478ENST00000216366p.F4fs*7c.5_6insAInsertion - Frameshift
KIAA1462ENSG00000165757ENST00000375377p.Q1282Hc.3846G>TSubstitution - Missense
CLN5ENSG00000102805ENST00000377453p.?c.486+6G>TUnknown
HECTD4ENSG00000173064ENST00000377560p.?c.2878-9A>TUnknown
SLAIN1ENSG00000139737ENST00000488699p.?c.424+6T>CUnknown
TBX21ENSG00000073861ENST00000177694p.R138Sc.414G>TSubstitution - Missense
HIGD2BENSG00000175202ENST00000311755p.S16Lc.47C>TSubstitution - Missense
MFSD5ENSG00000182544ENST00000329548p.E224fs*106c.665delGDeletion - Frameshift
PPCDCENSG00000138621ENST00000342932p.P132Lc.395C>TSubstitution - Missense
NAA16ENSG00000172766ENST00000379406p.A784Vc.2351C>TSubstitution - Missense
GPATCH2ENSG00000092978ENST00000366935p.V367Vc.1101A>GSubstitution - coding silent
COL11A1ENSG00000060718ENST00000370096p.P1152fs*46c.3455delCDeletion - Frameshift
PLCE1ENSG00000138193ENST00000371375p.M657Tc.1970T>CSubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.L110Sc.329T>CSubstitution - Missense
STAMBPL1ENSG00000138134ENST00000371924p.F407fs*>31c.1214_1215insAInsertion - Frameshift
TAF3ENSG00000165632ENST00000344293p.W907Lc.2720G>TSubstitution - Missense
PTPN14ENSG00000152104ENST00000366956p.Y570fs*131c.1707_1708insCInsertion - Frameshift
SMARCC2ENSG00000139613ENST00000267064p.?c.1496+10G>AUnknown
AKAP11ENSG00000023516ENST00000025301p.D471Gc.1412A>GSubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.N4125Nc.12375C>TSubstitution - coding silent
TAPBPLENSG00000139192ENST00000266556p.T135Tc.405T>CSubstitution - coding silent
OBSCNENSG00000154358ENST00000570156p.L6541Lc.19621C>TSubstitution - coding silent
RACGAP1ENSG00000161800ENST00000427314p.?c.1044+6A>GUnknown
EXOC8ENSG00000116903ENST00000360394p.E560Gc.1679A>GSubstitution - Missense
PEX10ENSG00000157911ENST00000288774p.L69Pc.206T>CSubstitution - Missense
RDH16ENSG00000139547ENST00000398138p.E233Dc.699G>TSubstitution - Missense
C12orf56ENSG00000185306ENST00000333722p.L76Pc.227T>CSubstitution - Missense
RPGRIP1ENSG00000092200ENST00000400017p.C735Yc.2204G>ASubstitution - Missense
OR4K15ENSG00000169488ENST00000305051p.S287Gc.859A>GSubstitution - Missense
AP1G2ENSG00000213983ENST00000397120p.L334Fc.1000C>TSubstitution - Missense
OR4N2ENSG00000176294ENST00000315947p.R80fs*12c.235delCDeletion - Frameshift
INPPL1ENSG00000165458ENST00000298229p.L841Fc.2521C>TSubstitution - Missense
ACTR1AENSG00000138107ENST00000369905p.A221Vc.662C>TSubstitution - Missense
NOLC1ENSG00000166197ENST00000370007p.K280fs*3c.833delADeletion - Frameshift
FGD6ENSG00000180263ENST00000343958p.L1096Pc.3287T>CSubstitution - Missense
RNASE11ENSG00000173464ENST00000398008p.R133Mc.398G>TSubstitution - Missense
GLYATL2ENSG00000156689ENST00000287275p.P59Hc.176C>ASubstitution - Missense
MMP14ENSG00000157227ENST00000311852p.?c.851-2_851-1insGUnknown
GZMHENSG00000100450ENST00000216338p.P205fs*5c.606_607insGInsertion - Frameshift
KIAA1522ENSG00000162522ENST00000373480p.A717Tc.2149G>ASubstitution - Missense
PDS5BENSG00000083642ENST00000315596p.R724fs*16c.2170_2171insCInsertion - Frameshift
TRPC4ENSG00000133107ENST00000379705p.E26*c.76G>TSubstitution - Nonsense
CENPJENSG00000151849ENST00000381884p.P822Pc.2466G>ASubstitution - coding silent
TGENSG00000042832ENST00000220616p.G2642Wc.7924G>TSubstitution - Missense
DLC1ENSG00000164741ENST00000276297p.F843Lc.2529C>ASubstitution - Missense
SCN1AENSG00000144285ENST00000375405p.N601Nc.1803C>TSubstitution - coding silent
OR1J2ENSG00000197233ENST00000335302p.Q258Qc.774G>ASubstitution - coding silent
SCARB1ENSG00000073060ENST00000339570p.V72Ic.214G>ASubstitution - Missense
ANKS1BENSG00000185046ENST00000329257p.R175Gc.523A>GSubstitution - Missense
SSRP1ENSG00000149136ENST00000278412p.L273Lc.817C>TSubstitution - coding silent
OR6Q1ENSG00000172381ENST00000302622p.S192Sc.576G>ASubstitution - coding silent
SLC2A1ENSG00000117394ENST00000372500p.V69Vc.207G>TSubstitution - coding silent
ABL2ENSG00000143322ENST00000392043p.A162Tc.484G>ASubstitution - Missense
BCAR3ENSG00000137936ENST00000370247p.A300Ac.900G>ASubstitution - coding silent
ENST00000367531p.T705Tc.2115G>ASubstitution - coding silent
NTNG1ENSG00000162631ENST00000542803p.A179Vc.536C>TSubstitution - Missense
ADAMTSL4ENSG00000143382ENST00000369041p.P306Hc.917C>ASubstitution - Missense
ADAMTSL4ENSG00000143382ENST00000369039p.P306Hc.917C>ASubstitution - Missense
ANKRD33ENSG00000167612ENST00000340970p.T109Sc.325A>TSubstitution - Missense
MYO16ENSG00000041515ENST00000457511p.?c.697+4A>TUnknown
ENST00000458043_v65p.N1078Kc.3234T>ASubstitution - Missense
ZNF766ENSG00000196214ENST00000359102p.G107Wc.319G>TSubstitution - Missense
ABCA12ENSG00000144452ENST00000389661p.?c.1518+6A>TUnknown
NOMO2ENSG00000185164ENST00000381474p.F238Sc.713T>CSubstitution - Missense
ATXN2LENSG00000168488ENST00000325215p.P715Sc.2143C>TSubstitution - Missense
RCOR3ENSG00000117625ENST00000419091p.T148Ic.443C>TSubstitution - Missense
WDR78ENSG00000152763ENST00000371023p.S68Nc.203G>ASubstitution - Missense
IDEENSG00000119912ENST00000436178p.L156fs*7c.459_460insTInsertion - Frameshift
KIAA0226ENSG00000145016ENST00000389665p.V278fs*16c.823_824insCInsertion - Frameshift
CADPS2ENSG00000081803ENST00000313070p.V1152fs*3c.3452_3453insAInsertion - Frameshift
GLB1L3ENSG00000166105ENST00000389887p.G92fs*18c.271delGDeletion - Frameshift
PCLOENSG00000186472ENST00000423517p.K2442fs*2c.7325delADeletion - Frameshift
FHAD1ENSG00000142621ENST00000358897p.P130fs*99c.379_380insCInsertion - Frameshift
HDGFENSG00000143321ENST00000368209p.K63fs*85c.188delADeletion - Frameshift
ANKFY1ENSG00000185722ENST00000433651p.L354fs*39c.1059delTDeletion - Frameshift
CYTH3ENSG00000008256ENST00000396741p.K314fs?c.942delADeletion - Frameshift
SPTBN4ENSG00000160460ENST00000344104p.E425delEc.1271_1273delAGGDeletion - In frame
WDR87ENSG00000171804ENST00000303868p.A2140Dc.6419C>ASubstitution - Missense
SLMAPENSG00000163681ENST00000383718p.?c.419+7A>GUnknown
ZNF567ENSG00000189042ENST00000536254p.H527Nc.1579C>ASubstitution - Missense
GCDHENSG00000105607ENST00000422947p.R183Qc.548G>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000402717p.R144Hc.431G>ASubstitution - Missense
KIDINS220ENSG00000134313ENST00000319688p.A240Tc.718G>ASubstitution - Missense
LMAN2LENSG00000114988ENST00000377079p.M91Tc.272T>CSubstitution - Missense
VPS16ENSG00000215305ENST00000380443p.H121Rc.362A>GSubstitution - Missense
TPX2ENSG00000088325ENST00000340513p.?c.883-7T>CUnknown
TTLL9ENSG00000131044ENST00000375922p.R76Hc.227G>ASubstitution - Missense
KIAA1109ENSG00000138688ENST00000455637p.Q549Hc.1647G>TSubstitution - Missense
CAMK2DENSG00000145349ENST00000394522p.V202Dc.605T>ASubstitution - Missense
TTC29ENSG00000137473ENST00000513335p.A300Ac.900G>ASubstitution - coding silent
ATAT1ENSG00000137343ENST00000329992p.?c.261-2A>CUnknown
RAI14ENSG00000039560ENST00000397449p.G123Gc.369C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.P47Pc.141G>ASubstitution - coding silent
SMARCD2ENSG00000108604ENST00000323347p.A455Ac.1365C>ASubstitution - coding silent
DNAH17ENSG00000187775ENST00000389840p.E1677Dc.5031G>TSubstitution - Missense
TBC1D22AENSG00000054611ENST00000380995p.R231Rc.693G>ASubstitution - coding silent
COL4A5ENSG00000188153ENST00000328300p.R1416Cc.4246C>TSubstitution - Missense
TRPM6ENSG00000119121ENST00000449912p.A403Ac.1209G>ASubstitution - coding silent
TRERF1ENSG00000124496ENST00000541110p.R993Mc.2978G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.S151Sc.453C>TSubstitution - coding silent
SMARCA4ENSG00000127616ENST00000429416p.G1232Dc.3695G>ASubstitution - Missense
HDAC9ENSG00000048052ENST00000441542p.S394Tc.1181G>CSubstitution - Missense
CNTNAP4ENSG00000152910ENST00000307431p.P846Lc.2537C>TSubstitution - Missense
ERAP1ENSG00000164307ENST00000296754p.N475fs*7c.1424_1425insAInsertion - Frameshift
PHF2ENSG00000197724ENST00000359246p.K492fs*6c.1468delADeletion - Frameshift
BCLAF1ENSG00000029363ENST00000531224p.A539Tc.1615G>ASubstitution - Missense
ENST00000327733p.E204Kc.610G>ASubstitution - Missense
SOS1ENSG00000115904ENST00000426016p.K511Kc.1533G>ASubstitution - coding silent
THEGENSG00000105549ENST00000342640p.?c.308+1G>AUnknown
PCDHGA11ENSG00000253873ENST00000398587p.E626Dc.1878G>TSubstitution - Missense
TSC1ENSG00000165699ENST00000298552p.P603fs*26c.1808delCDeletion - Frameshift
COL5A1ENSG00000130635ENST00000371817p.P1067Sc.3199C>TSubstitution - Missense
COL5A1ENSG00000130635ENST00000371817p.P1388Sc.4162C>TSubstitution - Missense
ZCCHC6ENSG00000083223ENST00000375963p.?c.3839-6G>CUnknown
SETXENSG00000107290ENST00000224140p.C138Rc.412T>CSubstitution - Missense
SDCCAG3ENSG00000165689ENST00000357365p.L281Lc.843G>ASubstitution - coding silent
SLC36A2ENSG00000186335ENST00000335244p.A27Vc.80C>TSubstitution - Missense
PCDHB2ENSG00000112852ENST00000194155p.V263Vc.789T>CSubstitution - coding silent
ATAD5ENSG00000176208ENST00000321990p.C1638fs*14c.4904_4905insAInsertion - Frameshift
HTR1BENSG00000135312ENST00000369947p.L55Ic.163C>ASubstitution - Missense
PCDHGC3ENSG00000240184ENST00000308177p.N689fs*36c.2058_2059insAInsertion - Frameshift
PCDHGB4ENSG00000253953ENST00000519479p.P802Pc.2406G>ASubstitution - coding silent
PCDHGB2ENSG00000253910ENST00000522605p.R641Rc.1923C>TSubstitution - coding silent
VPS13BENSG00000132549ENST00000358544p.I3384Nc.10151T>ASubstitution - Missense
TNRC18ENSG00000182095ENST00000430969p.L713Pc.2138T>CSubstitution - Missense
TNRC18ENSG00000182095ENST00000430969p.L713Pc.2138T>CSubstitution - Missense
ADCY1ENSG00000164742ENST00000297323p.R112Rc.336G>ASubstitution - coding silent
SYNPOENSG00000171992ENST00000394243p.A572Vc.1715C>TSubstitution - Missense
FAM13BENSG00000031003ENST00000425075p.E659fs*1c.1974_1975insTInsertion - Frameshift
PCDHA13ENSG00000239389ENST00000289272p.N449Nc.1347C>TSubstitution - coding silent
ABCF1ENSG00000204574ENST00000326195p.R530Mc.1589G>TSubstitution - Missense
ABCF1ENSG00000204574ENST00000326195p.D616Dc.1848C>TSubstitution - coding silent
C6orf15ENSG00000204542ENST00000259870p.T53Ac.157A>GSubstitution - Missense
LTAENSG00000226979ENST00000454783p.?c.206-1G>TUnknown
HIST1H2AMENSG00000233224ENST00000359611p.V101Vc.303T>CSubstitution - coding silent
WRNIP1ENSG00000124535ENST00000380773p.?c.823-9C>TUnknown
ELMO1ENSG00000155849ENST00000310758p.H53Yc.157C>TSubstitution - Missense
MCF2ENSG00000101977ENST00000370576p.A316Ac.948A>GSubstitution - coding silent
URGCPENSG00000106608ENST00000453200p.G702Gc.2106C>TSubstitution - coding silent
RYR1ENSG00000196218ENST00000359596p.K1031Kc.3093G>ASubstitution - coding silent
ZNF780BENSG00000128000ENST00000434248p.P668Qc.2003C>ASubstitution - Missense
ATP10BENSG00000118322ENST00000327245p.G1255Rc.3763G>ASubstitution - Missense
AASDHENSG00000157426ENST00000205214p.?c.862-3C>TUnknown
PDGFRAENSG00000134853ENST00000257290p.N848Ic.2543A>TSubstitution - Missense
TECRLENSG00000205678ENST00000381210p.R103Rc.309A>GSubstitution - coding silent
KITENSG00000157404ENST00000288135p.M882Vc.2644A>GSubstitution - Missense
EVC2ENSG00000173040ENST00000344408p.T1113Tc.3339C>TSubstitution - coding silent
POLR2BENSG00000047315ENST00000381227p.R41Kc.122G>ASubstitution - Missense
NM_058004.1p.F829Fc.2487C>TSubstitution - coding silent
SERPIND1ENSG00000099937ENST00000215727p.G297*c.889G>TSubstitution - Nonsense
BST2ENSG00000130303ENST00000252593p.V39fs*3c.115delGDeletion - Frameshift
ZFHX3ENSG00000140836ENST00000268489p.T2153Tc.6459A>GSubstitution - coding silent
ENST00000449000p.N199Nc.597C>TSubstitution - coding silent
UPP2ENSG00000007001ENST00000409859p.M128Kc.383T>ASubstitution - Missense
PPP1R16BENSG00000101445ENST00000299824p.?c.467+7G>AUnknown
ZNF335ENSG00000198026ENST00000322927p.P345Pc.1035A>GSubstitution - coding silent
ZNF180ENSG00000167384ENST00000221327p.K226fs*8c.678delADeletion - Frameshift
PLIN4ENSG00000167676ENST00000301286p.Q1039*c.3115C>TSubstitution - Nonsense
ZNF229ENSG00000167383ENST00000291187p.L255Lc.765T>CSubstitution - coding silent
ADAMTS6ENSG00000049192ENST00000381055p.D712fs*48c.2134delGDeletion - Frameshift
SNX18ENSG00000178996ENST00000326277p.A530Tc.1588G>ASubstitution - Missense
CUL9ENSG00000112659ENST00000252050p.D1226Gc.3677A>GSubstitution - Missense
CPAMD8ENSG00000160111ENST00000291440p.I286Ic.858C>ASubstitution - coding silent
DAZAP1ENSG00000071626ENST00000336761p.P261fs*116c.779_780insCInsertion - Frameshift
MB21D2ENSG00000180611ENST00000392452p.D446Hc.1336G>CSubstitution - Missense
HTR3EENSG00000186038ENST00000335304p.L322fs*12c.959delCDeletion - Frameshift
ATP13A5ENSG00000187527ENST00000342358p.V763Ac.2288T>CSubstitution - Missense
NM_006622p.D560Vc.1679A>TSubstitution - Missense
DOCK2ENSG00000134516ENST00000256935p.P1683Lc.5048C>TSubstitution - Missense
CEP44ENSG00000164118ENST00000296519p.N69fs*2c.206_207insAInsertion - Frameshift
HK3ENSG00000160883ENST00000292432p.?c.1857+9G>TUnknown
SYNE1ENSG00000131018ENST00000423061p.?c.21832-2delaUnknown
NFE2L3ENSG00000050344ENST00000056233p.Y33fs*173c.97_98insTInsertion - Frameshift
ENST00000529122_v68p.S276Sc.828T>CSubstitution - coding silent
ANK2ENSG00000145362ENST00000357077p.K580Kc.1740A>GSubstitution - coding silent
ZNF142ENSG00000115568ENST00000411696p.P1317fs*80c.3950delCDeletion - Frameshift
ZNF142ENSG00000115568ENST00000411696p.F343Fc.1029C>TSubstitution - coding silent
WDR33ENSG00000136709ENST00000322313p.P969Lc.2906C>TSubstitution - Missense
IRS1ENSG00000169047ENST00000305123p.H526Hc.1578C>TSubstitution - coding silent
TRPM8ENSG00000144481ENST00000324695p.F744Lc.2230T>CSubstitution - Missense
CNKSR2ENSG00000149970ENST00000379510p.K490fs*31c.1465delADeletion - Frameshift
DMDENSG00000198947ENST00000357033p.?c.3604-2A>TUnknown
NM_053025p.L900Pc.2699T>CSubstitution - Missense
FAM161AENSG00000170264ENST00000404929p.R523*c.1567C>TSubstitution - Nonsense
ACAD9ENSG00000177646ENST00000308982p.S376Sc.1128C>TSubstitution - coding silent
COPS8ENSG00000198612ENST00000354371p.A95Tc.283G>ASubstitution - Missense
ENST00000373702p.Y633Cc.1898A>GSubstitution - Missense
ENST00000272666p.L236Lc.708C>ASubstitution - coding silent
CCDC14ENSG00000175455ENST00000310351p.I14Mc.42A>GSubstitution - Missense
IQCA1ENSG00000132321ENST00000409907p.K471Rc.1412A>GSubstitution - Missense
MRPL44ENSG00000135900ENST00000258383p.P22Hc.65C>ASubstitution - Missense
STK11IPENSG00000144589ENST00000295641p.Q87Qc.261G>ASubstitution - coding silent
STK11IPENSG00000144589ENST00000295641p.Q87Qc.261G>ASubstitution - coding silent
RUFY4ENSG00000188282ENST00000374155p.E393fs*25c.1173delGDeletion - Frameshift
SMPD4ENSG00000136699ENST00000409031p.T855Ac.2563A>GSubstitution - Missense
ARHGEF4ENSG00000136002ENST00000326016p.T677Ic.2030C>TSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.C4339Yc.13016G>ASubstitution - Missense
CCNCENSG00000112237ENST00000520429p.D245Nc.733G>ASubstitution - Missense
UNC13AENSG00000130477ENST00000428389p.?c.2451-8C>AUnknown
KLHL26ENSG00000167487ENST00000300976p.V103Vc.309C>TSubstitution - coding silent
SLC24A2ENSG00000155886ENST00000341998p.D258Vc.773A>TSubstitution - Missense
TOPBP1ENSG00000163781ENST00000260810p.V1119Ic.3355G>ASubstitution - Missense
TBC1D9ENSG00000109436ENST00000442267p.S1121Sc.3363C>TSubstitution - coding silent
TBC1D9ENSG00000109436ENST00000442267p.E422Gc.1265A>GSubstitution - Missense
SH2B1ENSG00000178188ENST00000359285p.R475fs*5c.1423_1424insCInsertion - Frameshift
RBFAENSG00000101546ENST00000306735p.L193Pc.578T>CSubstitution - Missense
KLHL18ENSG00000114648ENST00000232766p.A521Vc.1562C>TSubstitution - Missense
SBF1ENSG00000100241ENST00000390679p.V1171Gc.3512T>GSubstitution - Missense
ZNF366ENSG00000178175ENST00000318442p.H271Hc.813C>TSubstitution - coding silent
MAP1BENSG00000131711ENST00000296755p.S121Nc.362G>ASubstitution - Missense
OGTENSG00000147162ENST00000373701p.S1035Sc.3105A>GSubstitution - coding silent
FAM120CENSG00000184083ENST00000375180p.L175fs*65c.515_516insGInsertion - Frameshift
NLGN4XENSG00000146938ENST00000381095p.F512Lc.1534T>CSubstitution - Missense
PJA1ENSG00000181191ENST00000374584p.P380Pc.1140A>GSubstitution - coding silent
FOCADENSG00000188352ENST00000380249p.L961Mc.2881C>ASubstitution - Missense
ITIH6ENSG00000102313ENST00000218436p.I469Fc.1405A>TSubstitution - Missense
HACE1ENSG00000085382ENST00000262903p.H329Hc.987C>TSubstitution - coding silent
SERPINB11ENSG00000206072ENST00000544088p.G387Dc.1160G>ASubstitution - Missense
RIOK2ENSG00000058729ENST00000508447p.S456Lc.1367C>TSubstitution - Missense
FAM133AENSG00000179083ENST00000538690p.K207Rc.620A>GSubstitution - Missense
CBLN2ENSG00000141668ENST00000269503p.C64Yc.191G>ASubstitution - Missense
PCDH11XENSG00000102290ENST00000395337p.N447Sc.1340A>GSubstitution - Missense
STOX2ENSG00000173320ENST00000308497p.F290Ic.868T>ASubstitution - Missense
GLRBENSG00000109738ENST00000264428p.A146fs*3c.429_430insTInsertion - Frameshift
FAT1ENSG00000083857ENST00000441802p.V156Vc.468T>CSubstitution - coding silent
KIAA1430ENSG00000164323ENST00000458385p.G311fs*6c.924_925insAInsertion - Frameshift
ACSL6ENSG00000164398ENST00000379264p.P287Hc.860C>ASubstitution - Missense
CTSOENSG00000256043ENST00000433477p.A97Vc.290C>TSubstitution - Missense
ZNF462ENSG00000148143ENST00000277225p.I1675Nc.5024T>ASubstitution - Missense
COL15A1ENSG00000204291ENST00000375001p.?c.3532-7C>AUnknown
SVEP1ENSG00000165124ENST00000401783p.V3349Dc.10046T>ASubstitution - Missense
RALGDSENSG00000160271ENST00000372050p.T662Tc.1986A>GSubstitution - coding silent
PSAT1ENSG00000135069ENST00000376588p.N89Nc.267C>TSubstitution - coding silent
IARSENSG00000196305ENST00000375643p.Q1184Hc.3552A>CSubstitution - Missense
NM_025104.2p.?c.20-10C>TUnknown
THBS2ENSG00000186340ENST00000366787p.I931Vc.2791A>GSubstitution - Missense
LRRC16AENSG00000079691ENST00000329474p.I511Ic.1533A>TSubstitution - coding silent
HIPK2ENSG00000064393ENST00000406875p.A719Sc.2155G>TSubstitution - Missense
HIST1H3AENSG00000198366ENST00000357647p.S58Tc.172T>ASubstitution - Missense
ARVCFENSG00000099889ENST00000263207p.A769fs*95c.2305delGDeletion - Frameshift
TTNENSG00000155657ENST00000342992p.W18317*c.54951G>ASubstitution - Nonsense
NM_003319p.K7210Nc.21630G>TSubstitution - Missense
NM_003319p.R12636Gc.37906A>GSubstitution - Missense
SERPINB13ENSG00000197641ENST00000344731p.G274Gc.822G>ASubstitution - coding silent
STAU2ENSG00000040341ENST00000524300p.G484fs*20c.1449delADeletion - Frameshift
HADHAENSG00000084754ENST00000380649p.R235Rc.705G>ASubstitution - coding silent
INPP4AENSG00000040933ENST00000074304p.G863Dc.2588G>ASubstitution - Missense
PRR21ENSG00000221961ENST00000408934p.L82Ic.244C>ASubstitution - Missense
ACTR1BENSG00000115073ENST00000289228p.L198Lc.592C>TSubstitution - coding silent
ENST00000356127p.I11751Mc.35253A>GSubstitution - Missense
NM_003319p.R9509Gc.28525A>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.C6112Cc.18336T>CSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.A26165Vc.78494C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.P14200fs*37c.42599delCDeletion - Frameshift
DIDO1ENSG00000101191ENST00000395343p.P1264Pc.3792G>ASubstitution - coding silent
NPBWR2ENSG00000125522ENST00000369768p.G62Cc.184G>TSubstitution - Missense
UCKL1ENSG00000198276ENST00000354216p.L440Lc.1320G>ASubstitution - coding silent
SLX4ENSG00000188827ENST00000294008p.L1781Lc.5343G>ASubstitution - coding silent
LAMA5ENSG00000130702ENST00000252999p.C195Gc.583T>GSubstitution - Missense
TGFB1I1ENSG00000140682ENST00000394863p.F274fs*26c.815delCDeletion - Frameshift
ACSF3ENSG00000176715ENST00000317447p.?c.1501+4C>TUnknown
CYP20A1ENSG00000119004ENST00000356079p.R360Ic.1079G>TSubstitution - Missense
KLHL29ENSG00000119771ENST00000486442p.?c.2299+10A>GUnknown
SLC4A7ENSG00000033867ENST00000455077p.Y631Cc.1892A>GSubstitution - Missense
DLG1ENSG00000075711ENST00000346964p.R561Wc.1681C>TSubstitution - Missense
DLG1ENSG00000075711ENST00000419354p.Q194*c.580C>TSubstitution - Nonsense
NM_206943.1p.F1398Lc.4192T>CSubstitution - Missense
ADH7ENSG00000196344ENST00000476959p.E259Gc.776A>GSubstitution - Missense
SUPT7LENSG00000119760ENST00000337768p.V223Vc.669G>TSubstitution - coding silent
CCDC121ENSG00000176714ENST00000324364p.P268Sc.802C>TSubstitution - Missense
ZNF274ENSG00000171606ENST00000326804p.C592Yc.1775G>ASubstitution - Missense
RFPL4AL1ENSG00000229292ENST00000341750p.E285fs*>3c.854delADeletion - Frameshift
GRIPAP1ENSG00000068400ENST00000376423p.A546Tc.1636G>ASubstitution - Missense
POLBENSG00000070501ENST00000265421p.N128fs*2c.383_384insAInsertion - Frameshift
RBM10ENSG00000182872ENST00000377604p.R684Mc.2051G>TSubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.M3358Vc.10072A>GSubstitution - Missense
SH3TC1ENSG00000125089ENST00000245105p.R402Wc.1204C>TSubstitution - Missense
CCSER1ENSG00000184305ENST00000432775p.V234Ic.700G>ASubstitution - Missense
LEF1ENSG00000138795ENST00000265165p.S112Sc.336C>TSubstitution - coding silent
KAT6AENSG00000083168ENST00000265713p.S524Pc.1570T>CSubstitution - Missense
HADHENSG00000138796ENST00000403312p.P215Pc.645T>CSubstitution - coding silent
MED12LENSG00000144893ENST00000474524p.P1732Pc.5196T>CSubstitution - coding silent
RAP1GDS1ENSG00000138698ENST00000453712p.L335Fc.1003C>TSubstitution - Missense
ARPP21ENSG00000172995ENST00000187397p.Y578Yc.1734C>TSubstitution - coding silent
PDHA2ENSG00000163114ENST00000295266p.P355Lc.1064C>TSubstitution - Missense
ENST00000380830p.R207Gc.619A>GSubstitution - Missense
ZSCAN22ENSG00000182318ENST00000329665p.A120Tc.358G>ASubstitution - Missense
ELF2ENSG00000109381ENST00000394235p.V382Vc.1146A>GSubstitution - coding silent
C4orf21ENSG00000138658ENST00000505019p.D1929Gc.5786A>GSubstitution - Missense
ADAD1ENSG00000164113ENST00000296513p.G45Sc.133G>ASubstitution - Missense
NM_020340.2p.G1672Gc.5016A>TSubstitution - coding silent
ADD2ENSG00000075340ENST00000430656p.L168Lc.502C>TSubstitution - coding silent
DYSFENSG00000135636ENST00000410020p.R1269Rc.3807G>ASubstitution - coding silent
DFNA5ENSG00000105928ENST00000342947p.P372Lc.1115C>TSubstitution - Missense
ADGBENSG00000118492ENST00000397944p.K1022Rc.3065A>GSubstitution - Missense
WIPF3ENSG00000122574ENST00000409123p.R129Cc.385C>TSubstitution - Missense
ULBP2ENSG00000131015ENST00000367351p.P41Hc.122C>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.Q2946Qc.8838A>GSubstitution - coding silent
BRAT1ENSG00000106009ENST00000340611p.?c.1598-2A>GUnknown
PLEKHM1ENSG00000225190ENST00000430334p.A493Ac.1479G>ASubstitution - coding silent
SIRPB1ENSG00000101307ENST00000381605p.D102Vc.305A>TSubstitution - Missense
CUL4BENSG00000158290ENST00000371322p.L222Lc.666C>TSubstitution - coding silent
ENST00000331986p.S4995Tc.14983T>ASubstitution - Missense
PARD3BENSG00000116117ENST00000351153p.D998Dc.2994T>CSubstitution - coding silent
FN1ENSG00000115414ENST00000336916p.I1293Tc.3878T>CSubstitution - Missense
ZSWIM2ENSG00000163012ENST00000295131p.S284Sc.852A>GSubstitution - coding silent
TTNENSG00000155657ENST00000360870p.E4353Gc.13058A>GSubstitution - Missense
IGFBP2ENSG00000115457ENST00000233809p.D303fs*10c.907_908insGInsertion - Frameshift
ERCC6L2ENSG00000182150ENST00000288985p.T545Tc.1635C>TSubstitution - coding silent
MAP2K4ENSG00000065559ENST00000353533p.W291*c.872G>ASubstitution - Nonsense
YWHAEENSG00000108953ENST00000264335p.R141Kc.422G>ASubstitution - Missense
CLCN4ENSG00000073464ENST00000380833p.D431Nc.1291G>ASubstitution - Missense
TUBB4AENSG00000104833ENST00000264071p.T221Tc.663C>ASubstitution - coding silent
MYBL1ENSG00000185697ENST00000522677p.S319Gc.955A>GSubstitution - Missense
CXorf64ENSG00000183631ENST00000371125p.I229Ic.687C>TSubstitution - coding silent
GNASENSG00000087460ENST00000371100p.F865fs*20c.2593delTDeletion - Frameshift
SLC4A11ENSG00000088836ENST00000380059p.V274Vc.822T>CSubstitution - coding silent
GPIENSG00000105220ENST00000356487p.Y392fs*10c.1170delTDeletion - Frameshift
PDCD2LENSG00000126249ENST00000246535p.G131*c.391G>TSubstitution - Nonsense
DOT1LENSG00000104885ENST00000398665p.T984Mc.2951C>TSubstitution - Missense
ZNF675ENSG00000197372ENST00000359788p.T559Sc.1675A>TSubstitution - Missense
ENST00000300671p.A753Tc.2257G>ASubstitution - Missense
C9orf3ENSG00000148120ENST00000427193p.C5Yc.14G>ASubstitution - Missense
RHBDF2ENSG00000129667ENST00000313080p.L251Ic.751C>ASubstitution - Missense
ZBTB5ENSG00000168795ENST00000307750p.A44Vc.131C>TSubstitution - Missense
LEPENSG00000174697ENST00000308868p.L79Lc.235C>TSubstitution - coding silent
FLNCENSG00000128591ENST00000325888p.Y2692*c.8076C>GSubstitution - Nonsense
RANBP6ENSG00000137040ENST00000259569p.W868*c.2603G>ASubstitution - Nonsense
ZNF800ENSG00000048405ENST00000393313p.D566Vc.1697A>TSubstitution - Missense
SALL4ENSG00000101115ENST00000217086p.V995fs*16c.2983_2984insGInsertion - Frameshift
DDX27ENSG00000124228ENST00000371764p.L412Mc.1234C>ASubstitution - Missense
FEZF1ENSG00000128610ENST00000442488p.E369fs*83c.1105delGDeletion - Frameshift
CADPS2ENSG00000081803ENST00000449022p.A613Sc.1837G>TSubstitution - Missense
CADPS2ENSG00000081803ENST00000449022p.R508fs*9c.1515_1516insAInsertion - Frameshift
ENSG00000214167ENST00000375684p.G86fs*24c.253delGDeletion - Frameshift
NLKENSG00000087095ENST00000407008p.A115Tc.343G>ASubstitution - Missense
ADAMTS9ENSG00000163638ENST00000498707p.T489Ic.1466C>TSubstitution - Missense
ZNF395ENSG00000186918ENST00000344423p.L364Lc.1092G>ASubstitution - coding silent
KIF13BENSG00000197892ENST00000524189p.V503Ac.1508T>CSubstitution - Missense
MAGI1ENSG00000151276ENST00000402939p.K739*c.2215A>TSubstitution - Nonsense
ANKRD36CENSG00000174501ENST00000456556p.A472Vc.1415C>TSubstitution - Missense
DTNAENSG00000134769ENST00000269190p.A509Vc.1526C>TSubstitution - Missense
FHOD3ENSG00000134775ENST00000257209p.T1361Tc.4083T>CSubstitution - coding silent
MIDNENSG00000167470ENST00000300952p.G445Dc.1334G>ASubstitution - Missense
INTS2ENSG00000108506ENST00000444766p.G883Ec.2648G>ASubstitution - Missense
PHF12ENSG00000109118ENST00000332830p.A682Ac.2046C>TSubstitution - coding silent
UGT2B11ENSG00000213759ENST00000446444p.?c.721+7A>TUnknown
UMODL1ENSG00000177398ENST00000400424p.A133Tc.397G>ASubstitution - Missense
GGCXENSG00000115486ENST00000233838p.?c.1288-3C>TUnknown
RNF144BENSG00000137393ENST00000259939p.G264Cc.790G>TSubstitution - Missense
WDR27ENSG00000184465ENST00000448612p.?c.784-5T>CUnknown
RBM47ENSG00000163694ENST00000319592p.I171Nc.512T>ASubstitution - Missense
MIEN1ENSG00000141741ENST00000394231p.E48delEc.142_144delGAGDeletion - In frame
KRTAP24-1ENSG00000188694ENST00000340345p.Q52Rc.155A>GSubstitution - Missense
ZBTB49ENSG00000168826ENST00000337872p.N313Dc.937A>GSubstitution - Missense
HTTENSG00000197386ENST00000355072p.L1145Lc.3433C>TSubstitution - coding silent
LIASENSG00000121897ENST00000261434p.N41Yc.121A>TSubstitution - Missense
GRSF1ENSG00000132463ENST00000254799p.?c.358-9C>AUnknown
C8orf34ENSG00000165084ENST00000518698p.I38Tc.113T>CSubstitution - Missense
EPHB6ENSG00000106123ENST00000392957p.N287Nc.861C>TSubstitution - coding silent
ENSG00000257743ENST00000477922p.V1582Ic.4744G>ASubstitution - Missense
SCRT1ENSG00000170616ENST00000332135p.A33Tc.97G>ASubstitution - Missense
C7orf63ENSG00000105792ENST00000389297p.R676Rc.2028T>CSubstitution - coding silent
TPRENSG00000047410ENST00000367478p.T957fs*15c.2865_2866insAInsertion - Frameshift
SIPA1L1ENSG00000197555ENST00000555818p.K276Rc.827A>GSubstitution - Missense
GFERENSG00000127554ENST00000248114p.S203Sc.609C>ASubstitution - coding silent
PRDM2ENSG00000116731ENST00000235372p.A1201Vc.3602C>TSubstitution - Missense
EP400ENSG00000183495ENST00000389561p.P1128Pc.3384C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313431p.L674Lc.2022T>CSubstitution - coding silent
SU_QSKp.R1051_Q1057delRQQQQQQc.3150_3170del21Deletion - In frame
CD163L1ENSG00000177675ENST00000313599p.C874Yc.2621G>ASubstitution - Missense
HTR3BENSG00000149305ENST00000260191p.C432Cc.1296C>TSubstitution - coding silent
FAM227BENSG00000166262ENST00000299338p.M135Lc.403A>TSubstitution - Missense
SOX13ENSG00000143842ENST00000367204p.G15Gc.45C>TSubstitution - coding silent
ST5ENSG00000166444ENST00000534127p.K635fs*12c.1904delADeletion - Frameshift
SCG3ENSG00000104112ENST00000220478p.L200Ic.598T>ASubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.?c.6359+6T>AUnknown
ATP2B4ENSG00000058668ENST00000357681p.R675Hc.2024G>ASubstitution - Missense
NFASCENSG00000163531ENST00000339876p.T222Ic.665C>TSubstitution - Missense
MAPK6ENSG00000069956ENST00000261845p.E602Dc.1806G>TSubstitution - Missense
ULK1ENSG00000177169ENST00000321867p.Q767fs*35c.2299_2300insCInsertion - Frameshift
GPR19ENSG00000183150ENST00000332427p.L402fs*6c.1202_1203insAInsertion - Frameshift
TRIM49CENSG00000204449ENST00000448984p.A330Sc.988G>TSubstitution - Missense
OR2B11ENSG00000177535ENST00000318749p.G99Ec.296G>ASubstitution - Missense
SETD8ENSG00000183955ENST00000330479p.A327Vc.980C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313431p.D132Vc.395A>TSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.K4314Kc.12942A>GSubstitution - coding silent
KLHL28ENSG00000179454ENST00000396128p.R213Cc.637C>TSubstitution - Missense
NUP210LENSG00000143552ENST00000368559p.E208Kc.622G>ASubstitution - Missense
ASUNENSG00000064102ENST00000261191p.S5fs*2c.7_8insTInsertion - Frameshift
FLG2ENSG00000143520ENST00000388718p.R107*c.319C>TSubstitution - Nonsense
ENST00000375089p.M1Ic.3G>ASubstitution - Missense
KCNH5ENSG00000140015ENST00000394968p.G516Rc.1546G>CSubstitution - Missense
EFCAB11ENSG00000140025ENST00000316738p.S72Sc.216T>CSubstitution - coding silent
TDP1ENSG00000042088ENST00000393454p.P359fs*21c.1073delCDeletion - Frameshift
ZCCHC11ENSG00000134744ENST00000257177p.S1384Nc.4151G>ASubstitution - Missense
TMEM59ENSG00000116209ENST00000234831p.?c.190-5C>TUnknown
PCSK6ENSG00000140479ENST00000331826p.K491Ec.1471A>GSubstitution - Missense
TTC39AENSG00000085831ENST00000262675p.?c.66-7T>CUnknown
KTN1ENSG00000126777ENST00000416613p.R1206*c.3616C>TSubstitution - Nonsense
ORC1ENSG00000085840ENST00000371568p.T574Tc.1722G>ASubstitution - coding silent
FOXA1ENSG00000129514ENST00000250448p.A75Pc.223G>CSubstitution - Missense
PCID2ENSG00000126226ENST00000246505p.P447Hc.1340C>ASubstitution - Missense
HHIPL1ENSG00000182218ENST00000357223p.Y479Yc.1437C>TSubstitution - coding silent
HHIPL1ENSG00000182218ENST00000357223p.L552Lc.1654C>TSubstitution - coding silent
ENST00000456228p.V6Vc.18G>TSubstitution - coding silent
NM_014363.3p.N2882Ic.8645A>TSubstitution - Missense
PRKAA1ENSG00000132356ENST00000354209p.D297Dc.891C>TSubstitution - coding silent
WDR70ENSG00000082068ENST00000265107p.G582fs*8c.1741delGDeletion - Frameshift
SEL1LENSG00000071537ENST00000336735p.A562Ac.1686C>TSubstitution - coding silent
ALOX15ENSG00000161905ENST00000545513p.T134Tc.402C>TSubstitution - coding silent
ENST00000344049p.S134fs*68c.400_401insTInsertion - Frameshift
PLD2ENSG00000129219ENST00000263088p.S294Nc.881G>ASubstitution - Missense
NAA20ENSG00000173418ENST00000334982p.V108fs*9c.315_316insTInsertion - Frameshift
MUC16ENSG00000181143ENST00000397910p.I8486fs*2c.25455delCDeletion - Frameshift
MAPTENSG00000186868ENST00000262410p.D177Vc.530A>TSubstitution - Missense
ACOT7ENSG00000097021ENST00000377845p.G67Rc.199G>ASubstitution - Missense
RPS6KA1ENSG00000117676ENST00000531382p.P740Sc.2218C>TSubstitution - Missense
ARID1AENSG00000117713ENST00000324856p.?c.3199-8T>CUnknown
PDE4BENSG00000184588ENST00000329654p.?c.842-4G>AUnknown
LPHN2ENSG00000117114ENST00000370725p.Y952fs*21c.2853_2854insAInsertion - Frameshift
MTF2ENSG00000143033ENST00000370298p.S449Fc.1346C>TSubstitution - Missense
NM_003319p.A436Tc.1306G>ASubstitution - Missense
C2orf43ENSG00000118961ENST00000237822p.G268Dc.803G>ASubstitution - Missense
ENST00000356127p.C5872Cc.17616C>TSubstitution - coding silent
FSIP2ENSG00000188738ENST00000343098p.D854Gc.2561A>GSubstitution - Missense
ZNF561ENSG00000171469ENST00000302851p.T255Sc.763A>TSubstitution - Missense
FUOMENSG00000148803ENST00000368552p.L111fs*8c.331_332insAInsertion - Frameshift
DTX4ENSG00000110042ENST00000227451p.H115Hc.345T>CSubstitution - coding silent
KNDC1ENSG00000171798ENST00000304613p.A773Gc.2318C>GSubstitution - Missense
PDE2AENSG00000186642ENST00000334456p.T805Tc.2415C>ASubstitution - coding silent
NEU3ENSG00000162139ENST00000294064p.C312Yc.935G>ASubstitution - Missense
CTSHENSG00000103811ENST00000220166p.G126fs*53c.375_376insAInsertion - Frameshift
NM_001380.2p.S1858Sc.5574G>ASubstitution - coding silent
TACC2ENSG00000138162ENST00000453444p.G855Rc.2563G>ASubstitution - Missense
GRHL3ENSG00000158055ENST00000236255p.P271fs*18c.809delCDeletion - Frameshift
PSDENSG00000059915ENST00000020673p.P262fs*32c.785delCDeletion - Frameshift
C10orf2ENSG00000107815ENST00000311916p.G120Vc.359G>TSubstitution - Missense
ENST00000315797p.S26Nc.77G>ASubstitution - Missense
NALCNENSG00000102452ENST00000251127p.G1363Vc.4088G>TSubstitution - Missense
FRYENSG00000073910ENST00000436046p.?c.61+5G>AUnknown
COL8A2ENSG00000171812ENST00000397799p.G308fs*34c.920_921insCInsertion - Frameshift
B3GALTLENSG00000187676ENST00000343307p.I390Vc.1168A>GSubstitution - Missense
NM_031277.1p.N301Kc.903T>ASubstitution - Missense
AKAP3ENSG00000111254ENST00000545990p.I453Ic.1359T>CSubstitution - coding silent
UTP20ENSG00000120800ENST00000261637p.A2770Vc.8309C>TSubstitution - Missense
ZCRB1ENSG00000139168ENST00000266529p.E158Ec.474A>GSubstitution - coding silent
FAM160B1ENSG00000151553ENST00000369248p.Q105Qc.315G>ASubstitution - coding silent
XM_371214.3p.Q115Hc.345G>TSubstitution - Missense
SEC23IPENSG00000107651ENST00000369075p.?c.1102-8C>TUnknown
DNHD1ENSG00000179532ENST00000354685p.K260Rc.779A>GSubstitution - Missense
SPENENSG00000065526ENST00000375759p.P3274Pc.9822C>TSubstitution - coding silent
GLB1L2ENSG00000149328ENST00000339772p.?c.559-7T>CUnknown
NUCB2ENSG00000070081ENST00000529010p.V99Mc.295G>ASubstitution - Missense
CTSDENSG00000117984ENST00000236671p.L342Mc.1024C>ASubstitution - Missense
N4BP2L2ENSG00000244754ENST00000399396p.F620Fc.1860C>TSubstitution - coding silent
N4BP2L2ENSG00000244754ENST00000399396p.M293Vc.877A>GSubstitution - Missense
BRCA2ENSG00000139618ENST00000544455p.D1476Gc.4427A>GSubstitution - Missense
KIFAP3ENSG00000075945ENST00000538366p.T186fs*10c.556delADeletion - Frameshift
TAOK3ENSG00000135090ENST00000419821p.D13Yc.37G>TSubstitution - Missense
YBX1ENSG00000065978ENST00000321358p.?c.167-7T>CUnknown
GABPB2ENSG00000143458ENST00000368918p.E390Ac.1169A>CSubstitution - Missense
PRKCQENSG00000065675ENST00000263125p.E313Vc.938A>TSubstitution - Missense
PACS1ENSG00000175115ENST00000320580p.H297Yc.889C>TSubstitution - Missense
SFMBT2ENSG00000198879ENST00000361972p.C134Fc.401G>TSubstitution - Missense
TTLL5ENSG00000119685ENST00000298832p.G1114Rc.3340G>ASubstitution - Missense
HEATR4ENSG00000187105ENST00000553558p.A685Tc.2053G>ASubstitution - Missense
ALKBH1ENSG00000100601ENST00000216489p.Q260Rc.779A>GSubstitution - Missense
CALML5ENSG00000178372ENST00000380332p.V20Lc.58G>CSubstitution - Missense
NM_014381.1p.N434fs*4c.1295_1296insAInsertion - Frameshift
PCDH15ENSG00000150275ENST00000414778p.Y135Yc.405C>TSubstitution - coding silent
C10orf71ENSG00000177354ENST00000323868p.A460Sc.1378G>TSubstitution - Missense
CITENSG00000122966ENST00000261833p.Q973Hc.2919A>TSubstitution - Missense
CITENSG00000122966ENST00000392521p.Q878Qc.2634G>ASubstitution - coding silent
SRRM4ENSG00000139767ENST00000267260p.R54Qc.161G>ASubstitution - Missense
PXNENSG00000089159ENST00000228307p.P324fs*22c.971delCDeletion - Frameshift
SETD1BENSG00000139718ENST00000267197p.G459Ac.1376G>CSubstitution - Missense
SETD1BENSG00000139718ENST00000267197p.P479fs*38c.1430delGDeletion - Frameshift
FBXO44ENSG00000132879ENST00000376770p.V127Ic.379G>ASubstitution - Missense
MED13LENSG00000123066ENST00000281928p.L431Lc.1293A>GSubstitution - coding silent
C12orf49ENSG00000111412ENST00000261318p.G66Gc.198C>TSubstitution - coding silent
SPAG6ENSG00000077327ENST00000376603p.T455Tc.1365T>GSubstitution - coding silent
GUCY1A2ENSG00000152402ENST00000526355p.Y720Hc.2158T>CSubstitution - Missense
DCDC1ENSG00000170959ENST00000342355p.A68Ac.204T>ASubstitution - coding silent
FBXO3ENSG00000110429ENST00000265651p.D178Nc.532G>ASubstitution - Missense
RNPC3ENSG00000185946ENST00000533099p.A480Ac.1440A>GSubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.V2166Mc.6496G>ASubstitution - Missense
BAIAP3ENSG00000007516ENST00000324385p.S228Sc.684G>ASubstitution - coding silent
MCAMENSG00000076706ENST00000264036p.V411Ac.1232T>CSubstitution - Missense
LRIF1ENSG00000121931ENST00000369763p.L366Mc.1096C>ASubstitution - Missense
ALDH4A1ENSG00000159423ENST00000375341p.V262Vc.786G>ASubstitution - coding silent
OR4D9ENSG00000172742ENST00000329328p.C179Cc.537C>TSubstitution - coding silent
CACNA1EENSG00000198216ENST00000367573p.I447Fc.1339A>TSubstitution - Missense
SULT2A1ENSG00000105398ENST00000222002p.T90Mc.269C>TSubstitution - Missense
ZNF486ENSG00000256229ENST00000335117p.T323Mc.968C>TSubstitution - Missense
BSNENSG00000164061ENST00000296452p.R896Hc.2687G>ASubstitution - Missense
SETDB2ENSG00000136169ENST00000317257p.R399Kc.1196G>ASubstitution - Missense
SIPA1L2ENSG00000116991ENST00000366630p.L833Lc.2499G>TSubstitution - coding silent
CNTNAP4ENSG00000152910ENST00000478060p.P774Lc.2321C>TSubstitution - Missense
CAMTA1ENSG00000171735ENST00000303635p.T201Tc.603C>TSubstitution - coding silent
BAG6ENSG00000204463ENST00000375976p.T391fs*29c.1169_1170insCInsertion - Frameshift
TSC22D1ENSG00000102804ENST00000458659p.P1049fs*>25c.3146delCDeletion - Frameshift
TSC22D1ENSG00000102804ENST00000261489p.P120fs*>25c.359delCDeletion - Frameshift
MYOZ1ENSG00000177791ENST00000359322p.A124Ac.372C>TSubstitution - coding silent
ENST00000371426p.R232fs*67c.694delADeletion - Frameshift
GALNTL6ENSG00000174473ENST00000506823p.R404Qc.1211G>ASubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.S2886Sc.8658C>TSubstitution - coding silent
ROBO1ENSG00000169855ENST00000464233p.F755fs*28c.2265delTDeletion - Frameshift
PLEKHF1ENSG00000166289ENST00000436066p.L82fs*20c.240delCDeletion - Frameshift
DMPKENSG00000104936ENST00000291270p.?c.161-3delcUnknown
SYNE1ENSG00000131018ENST00000423061p.S158Sc.474C>TSubstitution - coding silent
MYO18BENSG00000133454ENST00000335473p.R113Hc.338G>ASubstitution - Missense
TSC2ENSG00000103197ENST00000219476p.V299fs*39c.888_889insTInsertion - Frameshift
MYCBP2ENSG00000005810ENST00000357337p.S1073Nc.3218G>ASubstitution - Missense
KCNIP1ENSG00000182132ENST00000377360p.G197Dc.590G>ASubstitution - Missense
GABRA3ENSG00000011677ENST00000370314p.I135Ic.405C>TSubstitution - coding silent
LRP1ENSG00000123384ENST00000243077p.D1163fs*1c.3485_3486insCInsertion - Frameshift
SLC6A5ENSG00000165970ENST00000525748p.C752Yc.2255G>ASubstitution - Missense
HOXD8ENSG00000175879ENST00000313173p.D270Dc.810C>TSubstitution - coding silent
OR51S1ENSG00000176922ENST00000322101p.E199Kc.595G>ASubstitution - Missense
EIF4G3ENSG00000075151ENST00000264211p.P180Pc.540T>CSubstitution - coding silent
DNAH14ENSG00000185842ENST00000445597p.P1242Hc.3725C>ASubstitution - Missense
LMO7ENSG00000136153ENST00000357063p.F993fs*24c.2972delCDeletion - Frameshift
RPS24ENSG00000138326ENST00000440692p.?c.279+4G>AUnknown
HELLSENSG00000119969ENST00000348459p.?c.1327-9T>CUnknown
C10orf11ENSG00000148655ENST00000372499p.Q36Qc.108G>ASubstitution - coding silent
STAMBPL1ENSG00000138134ENST00000371927p.G425Gc.1275G>ASubstitution - coding silent
WBP4ENSG00000120688ENST00000379487p.?c.262+3_262+8delaaaaaaUnknown
DYRK3ENSG00000143479ENST00000367106p.N262Nc.786C>TSubstitution - coding silent
NM_003582p.N247Nc.741C>TSubstitution - coding silent
OR52B4ENSG00000221996ENST00000408920p.L309fs*>7c.926_927insTInsertion - Frameshift
RNLSENSG00000184719ENST00000331772p.L119Sc.356T>CSubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.Q2140Rc.6419A>GSubstitution - Missense
NM_000770.2p.N218Ic.653A>TSubstitution - Missense
ENST00000279593p.T1279Ac.3835A>GSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.S6294Sc.18882C>TSubstitution - coding silent
CD1BENSG00000158485ENST00000368168p.V191Ic.571G>ASubstitution - Missense
NXPH4ENSG00000182379ENST00000349394p.S207fs*32c.617_618insGInsertion - Frameshift
ANO2ENSG00000047617ENST00000546188p.R82Hc.245G>ASubstitution - Missense
PGBD5ENSG00000177614ENST00000321327p.I370Tc.1109T>CSubstitution - Missense
CLEC4AENSG00000111729ENST00000229332p.L56Lc.168A>TSubstitution - coding silent
NOP2ENSG00000111641ENST00000399466p.Q743Qc.2229G>ASubstitution - coding silent
CTBP2ENSG00000175029ENST00000309035p.G546Wc.1636G>TSubstitution - Missense
C2CD3ENSG00000168014ENST00000313663p.E1474Dc.4422A>CSubstitution - Missense
C2CD3ENSG00000168014ENST00000313663p.?c.4000+5G>TUnknown
ABCC9ENSG00000069431ENST00000261201p.V275fs*26c.817-1_817insAUnknown
GOLGA3ENSG00000090615ENST00000545875p.Q275Rc.824A>GSubstitution - Missense
LRTM2ENSG00000166159ENST00000299194p.T270Tc.810C>ASubstitution - coding silent
OXA1LENSG00000155463ENST00000285848p.W352Lc.1055G>TSubstitution - Missense
FRG2BENSG00000225899ENST00000425520p.A143Tc.427G>ASubstitution - Missense
MRPL52ENSG00000172590ENST00000397496p.P58fs*2c.169delCDeletion - Frameshift
CMTM5ENSG00000166091ENST00000339180p.S176Sc.528C>ASubstitution - coding silent
TUT1ENSG00000149016ENST00000278279p.G204Dc.611G>ASubstitution - Missense
CDH24ENSG00000139880ENST00000397359p.R337Hc.1010G>ASubstitution - Missense
NYNRINENSG00000205978ENST00000382554p.G716Dc.2147G>ASubstitution - Missense
SCN9AENSG00000169432ENST00000375387p.E1773Ec.5319A>GSubstitution - coding silent
ENST00000599122p.D1133Dc.3399C>TSubstitution - coding silent
COL22A1ENSG00000169436ENST00000303045p.Q323Hc.969G>TSubstitution - Missense
RC3H2ENSG00000056586ENST00000423239p.S751Ic.2252G>TSubstitution - Missense
TRIM32ENSG00000119401ENST00000450136p.S65Nc.194G>ASubstitution - Missense
PLCZ1ENSG00000139151ENST00000541695p.T387Sc.1159A>TSubstitution - Missense
ENST00000326876p.S237Sc.711C>ASubstitution - coding silent
TNNT3ENSG00000130595ENST00000381561p.A114Tc.340G>ASubstitution - Missense
LAYNENSG00000204381ENST00000375615p.A161Ac.483T>CSubstitution - coding silent
TRIM49BENSG00000182053ENST00000332682p.I436Vc.1306A>GSubstitution - Missense
ENST00000340070p.T372Sc.1114A>TSubstitution - Missense
KCNMA1ENSG00000156113ENST00000404771p.D695Dc.2085T>CSubstitution - coding silent
FAM45AENSG00000119979ENST00000361432p.P58Pc.174C>ASubstitution - coding silent
SSX2IPENSG00000117155ENST00000370612p.Q377*c.1129C>TSubstitution - Nonsense
CPSF6ENSG00000111605ENST00000266679p.A465Dc.1394C>ASubstitution - Missense
NELL2ENSG00000184613ENST00000395487p.C167Cc.501C>TSubstitution - coding silent
ZC3H13ENSG00000123200ENST00000242848p.D954Dc.2862T>CSubstitution - coding silent
CLN3ENSG00000188603ENST00000354630p.L339Lc.1017G>ASubstitution - coding silent
B2MENSG00000166710ENST00000544417p.Y30Cc.89A>GSubstitution - Missense
UNC13CENSG00000137766ENST00000545554p.S720Yc.2159C>ASubstitution - Missense
LPHN2ENSG00000117114ENST00000370721p.D1067Dc.3201T>CSubstitution - coding silent
TMEM59ENSG00000116209ENST00000371337p.?c.190-5C>TUnknown
USH2AENSG00000042781ENST00000366943p.V5169Dc.15506T>ASubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.I630Ic.1890C>TSubstitution - coding silent
TTC3ENSG00000182670ENST00000540756p.M478Ic.1434G>ASubstitution - Missense
DIDO1ENSG00000101191ENST00000395335p.I1134Fc.3400A>TSubstitution - Missense
KCNQ2ENSG00000075043ENST00000359689p.R160Wc.478C>TSubstitution - Missense
ZNF318ENSG00000171467ENST00000318149p.N708fs*9c.2117_2118insAInsertion - Frameshift
MYOFENSG00000138119ENST00000371501p.D1262fs*4c.3784delGDeletion - Frameshift
WHSC1ENSG00000109685ENST00000382888p.F643Cc.1928T>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.E4485fs*34c.13452_13453insAInsertion - Frameshift
PLA2G4CENSG00000105499ENST00000599111p.T369fs*16c.1104delGDeletion - Frameshift
FLNBENSG00000136068ENST00000357272p.G1596Dc.4787G>ASubstitution - Missense
WNK2ENSG00000165238ENST00000427277p.H541fs*7c.1616delCDeletion - Frameshift
ABCA12ENSG00000144452ENST00000389661p.V1086fs*33c.3250_3251insTInsertion - Frameshift
MED23ENSG00000112282ENST00000403834p.G128fs*11c.383delGDeletion - Frameshift
C3orf67ENSG00000163689ENST00000482387p.Y685Yc.2055C>TSubstitution - coding silent
MYD88ENSG00000172936ENST00000417037p.C301Yc.902G>ASubstitution - Missense
SPTBN4ENSG00000160460ENST00000392025p.A685Ac.2055C>ASubstitution - coding silent
ZFP82ENSG00000181007ENST00000392171p.Q134Rc.401A>GSubstitution - Missense
ZNF628ENSG00000197483ENST00000598519p.A576Vc.1727C>TSubstitution - Missense
NRXN1ENSG00000179915ENST00000402717p.K287Rc.860A>GSubstitution - Missense
ENST00000421660p.V683Vc.2049C>TSubstitution - coding silent
PPIL2ENSG00000100023ENST00000412327p.D154Vc.461A>TSubstitution - Missense
CLEC3AENSG00000166509ENST00000299642p.C176Yc.527G>ASubstitution - Missense
NF1ENSG00000196712ENST00000444181p.P473Lc.1418C>TSubstitution - Missense
SLC12A9ENSG00000146828ENST00000540482p.R607Rc.1821C>TSubstitution - coding silent
DNAH8ENSG00000124721ENST00000449981p.I476Vc.1426A>GSubstitution - Missense
GDI2ENSG00000057608ENST00000380132p.L91Lc.271C>TSubstitution - coding silent
MYO10ENSG00000145555ENST00000513610p.L1246Lc.3736C>TSubstitution - coding silent
SOGA2ENSG00000168502ENST00000306285p.D455Vc.1364A>TSubstitution - Missense
NBR1ENSG00000188554ENST00000389312p.?c.103-1G>AUnknown
PTBP3ENSG00000119314ENST00000458258p.I476Ic.1428C>TSubstitution - coding silent
CNTLNENSG00000044459ENST00000262360p.G491Sc.1471G>ASubstitution - Missense
SLC2A8ENSG00000136856ENST00000423934p.?c.746-9C>GUnknown
CEP78ENSG00000148019ENST00000424347p.A659Pc.1975G>CSubstitution - Missense
PLXNB3ENSG00000198753ENST00000538282p.S277Nc.830G>ASubstitution - Missense
ENST00000307015p.V244Mc.730G>ASubstitution - Missense
ZKSCAN8ENSG00000198315ENST00000536028p.R81Gc.241A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.R8032*c.24094C>TSubstitution - Nonsense
RBM42ENSG00000126254ENST00000262633p.R455Hc.1364G>ASubstitution - Missense
KDM3AENSG00000115548ENST00000409556p.L520Hc.1559T>ASubstitution - Missense
LPHN3ENSG00000150471ENST00000507625p.R533Wc.1597C>TSubstitution - Missense
SORCS2ENSG00000184985ENST00000329016p.?c.437-10T>AUnknown
SRSF7ENSG00000115875ENST00000313117p.P102Sc.304C>TSubstitution - Missense
KAT2AENSG00000108773ENST00000225916p.G710Dc.2129G>ASubstitution - Missense
ENST00000315286_v68p.E221fs*>4c.657_658delAGDeletion - Frameshift
ZNF527ENSG00000189164ENST00000356178p.G476Vc.1427G>TSubstitution - Missense
PCDHGB7ENSG00000254122ENST00000398594p.G3Wc.7G>TSubstitution - Missense
ALKBH6ENSG00000239382ENST00000378875p.K77Ec.229A>GSubstitution - Missense
DAPK1ENSG00000196730ENST00000358077p.V1051Mc.3151G>ASubstitution - Missense
PPP2R2BENSG00000156475ENST00000336640p.K401fs*15c.1193_1194insGInsertion - Frameshift
PPP2R2BENSG00000156475ENST00000508545p.K387fs*15c.1151_1152insGInsertion - Frameshift
PCDHA4ENSG00000204967ENST00000378125p.A454Tc.1360G>ASubstitution - Missense
SMARCD3ENSG00000082014ENST00000262188p.N294Nc.882C>TSubstitution - coding silent
MRAP2ENSG00000135324ENST00000257776p.N88Nc.264C>TSubstitution - coding silent
ZNF292ENSG00000188994ENST00000339907p.L1986Sc.5957T>CSubstitution - Missense
SGK1ENSG00000118515ENST00000528577p.P51Lc.152C>TSubstitution - Missense
NUDCD1ENSG00000120526ENST00000239690p.K534Tc.1601A>CSubstitution - Missense
RBM22ENSG00000086589ENST00000199814p.P391fs*>30c.1172delCDeletion - Frameshift
ZNF783ENSG00000204946ENST00000434415p.R303fs*58c.903delCDeletion - Frameshift
PCDHB15ENSG00000113248ENST00000231173p.L20Sc.59T>CSubstitution - Missense
KIF4BENSG00000226650ENST00000435029p.S910fs*2c.2728_2729insTInsertion - Frameshift
ITPKCENSG00000086544ENST00000263370p.Q253fs*4c.750_751insAInsertion - Frameshift
ZNF780AENSG00000197782ENST00000414720p.?c.280+6T>CUnknown
CYP2F1ENSG00000197446ENST00000331105p.R187Cc.559C>TSubstitution - Missense
LRFN1ENSG00000128011ENST00000248668p.C210Cc.630C>TSubstitution - coding silent
FAM134BENSG00000154153ENST00000306320p.?c.1000+1G>AUnknown
HLA-GENSG00000204632ENST00000360323p.A95Tc.283G>ASubstitution - Missense
GABRA6ENSG00000145863ENST00000274545p.W7*c.21G>ASubstitution - Nonsense
KMT2EENSG00000005483ENST00000257745p.C723*c.2169T>ASubstitution - Nonsense
RIMS2ENSG00000176406ENST00000507740p.H359Hc.1077T>CSubstitution - coding silent
KMT2CENSG00000055609ENST00000355193p.S965Sc.2895T>CSubstitution - coding silent
CLOCKENSG00000134852ENST00000381322p.L25Lc.75G>ASubstitution - coding silent
KCNH7ENSG00000184611ENST00000332142p.R92Mc.275G>TSubstitution - Missense
CENPCENSG00000145241ENST00000273853p.N803Nc.2409C>TSubstitution - coding silent
MAGEC1ENSG00000155495ENST00000285879p.P379Lc.1136C>TSubstitution - Missense
PAK4ENSG00000130669ENST00000358301p.S291Tc.871T>ASubstitution - Missense
ENST00000262969p.E57Dc.171G>TSubstitution - Missense
NOTCH3ENSG00000074181ENST00000263388p.L1653Lc.4959G>ASubstitution - coding silent
NEBENSG00000183091ENST00000409198p.L942Pc.2825T>CSubstitution - Missense
ZNF224ENSG00000267680ENST00000336976p.R664Hc.1991G>ASubstitution - Missense
CHD6ENSG00000124177ENST00000373222p.Y282Yc.846C>TSubstitution - coding silent
STK4ENSG00000101109ENST00000372806p.R117Qc.350G>ASubstitution - Missense
GALNT5ENSG00000136542ENST00000259056p.P668Tc.2002C>ASubstitution - Missense
ADAMTS6ENSG00000049192ENST00000381055p.A17Tc.49G>ASubstitution - Missense
RING1ENSG00000204227ENST00000374656p.S211fs*3c.625delGDeletion - Frameshift
EGFL8ENSG00000241404ENST00000395512p.?c.224+1G>AUnknown
PKHD1ENSG00000170927ENST00000371117p.?c.5601-8C>TUnknown
TNXBENSG00000168477ENST00000375244p.V1657Fc.4969G>TSubstitution - Missense
ZNF23ENSG00000167377ENST00000357254p.Y235Hc.703T>CSubstitution - Missense
ARHGAP17ENSG00000140750ENST00000289968p.T38Mc.113C>TSubstitution - Missense
POU5F1BENSG00000212993ENST00000465342p.Q191*c.571C>TSubstitution - Nonsense
MFAP3LENSG00000198948ENST00000361618p.F189Vc.565T>GSubstitution - Missense
CLCN2ENSG00000114859ENST00000265593p.E834Ac.2501A>CSubstitution - Missense
PHF20L1ENSG00000129292ENST00000220847p.E524fs*52c.1570delGDeletion - Frameshift
FAM198BENSG00000164125ENST00000296530p.P21Pc.63G>ASubstitution - coding silent
TAPT1ENSG00000169762ENST00000405303p.P228Sc.682C>TSubstitution - Missense
MPDZENSG00000107186ENST00000541718p.G546Gc.1638A>GSubstitution - coding silent
ZBTB43ENSG00000169155ENST00000373457p.L64Pc.191T>CSubstitution - Missense
IL31RAENSG00000164509ENST00000396836p.R161Sc.481C>ASubstitution - Missense
FBLL1ENSG00000188573ENST00000338333p.L226Mc.676C>ASubstitution - Missense
KNDC1ENSG00000171798ENST00000368572p.A773Gc.2318C>GSubstitution - Missense
EDRF1ENSG00000107938ENST00000368813p.R6Gc.16A>GSubstitution - Missense
PRKD1ENSG00000184304ENST00000331968p.A137Tc.409G>ASubstitution - Missense
NLGN4XENSG00000146938ENST00000381093p.I652Lc.1954A>TSubstitution - Missense
ASAP1ENSG00000153317ENST00000357668p.G450Vc.1349G>TSubstitution - Missense
LHX6ENSG00000106852ENST00000394319p.R177Rc.531C>TSubstitution - coding silent
CYB5R3ENSG00000100243ENST00000396303p.F82Vc.244T>GSubstitution - Missense
SREBF2ENSG00000198911ENST00000361204p.K327fs*10c.972_973insCInsertion - Frameshift
SEMA5BENSG00000082684ENST00000357599p.A600Tc.1798G>ASubstitution - Missense
TRHENSG00000170893ENST00000302649p.E175Ec.525G>ASubstitution - coding silent
NUP50ENSG00000093000ENST00000347635p.P297Lc.890C>TSubstitution - Missense
ENST00000272666p.L308Ic.922C>ASubstitution - Missense
SLC4A3ENSG00000114923ENST00000273063p.A1203Tc.3607G>ASubstitution - Missense
COL4A4ENSG00000081052ENST00000396625p.G906Rc.2716G>ASubstitution - Missense
FAM124BENSG00000124019ENST00000243806p.A152Ac.456C>TSubstitution - coding silent
PLEKHA4ENSG00000105559ENST00000263265p.R163Gc.487A>GSubstitution - Missense
HIF3AENSG00000124440ENST00000420102p.A433Vc.1298C>TSubstitution - Missense
MLXIPLENSG00000009950ENST00000313375p.S361Nc.1082G>ASubstitution - Missense
ZNF716ENSG00000182111ENST00000420713p.W475*c.1425G>ASubstitution - Nonsense
RSPH10B2ENSG00000169402ENST00000404077p.?c.1610-2A>GUnknown
TAF1ENSG00000147133ENST00000276072p.E1735Ac.5204A>CSubstitution - Missense
MOB3AENSG00000172081ENST00000357066p.P143Sc.427C>TSubstitution - Missense
EDA2RENSG00000131080ENST00000374719p.?c.353-1G>TUnknown
CRTC1ENSG00000105662ENST00000338797p.S588fs*4c.1753_1754insCInsertion - Frameshift
B4GALT4ENSG00000121578ENST00000393765p.R14*c.40C>TSubstitution - Nonsense
FREM3ENSG00000183090ENST00000329798p.A1479Pc.4435G>CSubstitution - Missense
XRN1ENSG00000114127ENST00000264951p.D1013Yc.3037G>TSubstitution - Missense
FOXA3ENSG00000170608ENST00000302177p.L169Mc.505C>ASubstitution - Missense
CMYA5ENSG00000164309ENST00000446378p.S2781Sc.8343T>CSubstitution - coding silent
KRBOX1ENSG00000240747ENST00000426937p.R109Hc.326G>ASubstitution - Missense
MAST4ENSG00000069020ENST00000403625p.K1272Kc.3816G>ASubstitution - coding silent
C6orf89ENSG00000198663ENST00000355190p.P130Hc.389C>ASubstitution - Missense
BRD1ENSG00000100425ENST00000216267p.M236Tc.707T>CSubstitution - Missense
ITPR1ENSG00000150995ENST00000456211p.R2443Gc.7327A>GSubstitution - Missense
OGTENSG00000147162ENST00000373719p.A686Tc.2056G>ASubstitution - Missense
JAK3ENSG00000105639ENST00000458235p.V957Mc.2869G>ASubstitution - Missense
ZNF101ENSG00000181896ENST00000318110p.H247Nc.739C>ASubstitution - Missense
ENST00000247712p.Q165fs*11c.486_487insCCInsertion - Frameshift
IGBP1ENSG00000089289ENST00000342206p.Q336Hc.1008G>TSubstitution - Missense
TAF1ENSG00000147133ENST00000276072p.R1142Rc.3426G>ASubstitution - coding silent
BAI3ENSG00000135298ENST00000370598p.A946Vc.2837C>TSubstitution - Missense
DSTENSG00000151914ENST00000370769p.D4080Dc.12240C>TSubstitution - coding silent
CACNA1IENSG00000100346ENST00000404898p.?c.5560-5T>GUnknown
ICAM5ENSG00000105376ENST00000221980p.?c.673+8G>TUnknown
SERPINB2ENSG00000197632ENST00000299502p.D274Vc.821A>TSubstitution - Missense
PCDH11XENSG00000102290ENST00000395337p.G41Gc.123C>ASubstitution - coding silent
PCDH11XENSG00000102290ENST00000373094p.A832Vc.2495C>TSubstitution - Missense
ITPR1ENSG00000150995ENST00000357086p.M2277Tc.6830T>CSubstitution - Missense
ADCY2ENSG00000078295ENST00000338316p.T687Kc.2060C>ASubstitution - Missense
PALM2-AKAP2ENSG00000157654ENST00000374530p.V1068Mc.3202G>ASubstitution - Missense
RAB23ENSG00000112210ENST00000317483p.A66Vc.197C>TSubstitution - Missense
KDELR3ENSG00000100196ENST00000409006p.Y191Yc.573C>TSubstitution - coding silent
COL19A1ENSG00000082293ENST00000322773p.D661Yc.1981G>TSubstitution - Missense
FIG4ENSG00000112367ENST00000230124p.I640Mc.1920A>GSubstitution - Missense
SLC16A10ENSG00000112394ENST00000368851p.L466Fc.1396C>TSubstitution - Missense
KCNJ4ENSG00000168135ENST00000303592p.L59Fc.175C>TSubstitution - Missense
FKBP10ENSG00000141756ENST00000321562p.R339Qc.1016G>ASubstitution - Missense
ENST00000293443_v68p.Q813*c.2437C>TSubstitution - Nonsense
ACBD4ENSG00000181513ENST00000398322p.P27Sc.79C>TSubstitution - Missense
TNIP2ENSG00000168884ENST00000315423p.G391Gc.1173G>ASubstitution - coding silent
ARHGAP10ENSG00000071205ENST00000336498p.R729Hc.2186G>ASubstitution - Missense
ARFIP1ENSG00000164144ENST00000353617p.Q221Hc.663G>TSubstitution - Missense
CCDC110ENSG00000168491ENST00000307588p.N105fs*9c.314_315insAInsertion - Frameshift
ENST00000375724p.P183Pc.549A>GSubstitution - coding silent
BRD3ENSG00000169925ENST00000303407p.E564Gc.1691A>GSubstitution - Missense
PPP2R2BENSG00000156475ENST00000394409p.A286Tc.856G>ASubstitution - Missense
RALGDSENSG00000160271ENST00000542690p.T733Tc.2199A>GSubstitution - coding silent
SRSF1ENSG00000136450ENST00000258962p.R229Mc.686G>TSubstitution - Missense
NRXN1ENSG00000179915ENST00000406316p.G1051Sc.3151G>ASubstitution - Missense
UBTFENSG00000108312ENST00000302904p.P320Lc.959C>TSubstitution - Missense
COL20A1ENSG00000101203ENST00000358894p.A318Sc.952G>TSubstitution - Missense
ENST00000333679p.?c.742-5T>GUnknown
ARFGAP1ENSG00000101199ENST00000370275p.Y103Hc.307T>CSubstitution - Missense
SHISA6ENSG00000188803ENST00000441885p.S241Yc.722C>ASubstitution - Missense
WDR53ENSG00000185798ENST00000332629p.?c.480+3G>TUnknown
LTBP1ENSG00000049323ENST00000407925p.F1071Lc.3211T>CSubstitution - Missense
BDH1ENSG00000161267ENST00000392378p.P52Lc.155C>TSubstitution - Missense
CRELD1ENSG00000163703ENST00000383811p.K58Kc.174G>ASubstitution - coding silent
SU_EPHA6p.P839Sc.2515C>TSubstitution - Missense
XDHENSG00000158125ENST00000379416p.D557Nc.1669G>ASubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.R4378*c.13132C>TSubstitution - Nonsense
ABCA5ENSG00000154265ENST00000392676p.G707Dc.2120G>ASubstitution - Missense
ZNF182ENSG00000147118ENST00000376943p.I512Kc.1535T>ASubstitution - Missense
ZNF630ENSG00000221994ENST00000409324p.I279Ic.837T>CSubstitution - coding silent
WDR45ENSG00000196998ENST00000356463p.Q47Qc.141G>ASubstitution - coding silent
KCNU1ENSG00000215262ENST00000399881p.A1036Vc.3107C>TSubstitution - Missense
KDM6AENSG00000147050ENST00000377967p.P938Pc.2814A>GSubstitution - coding silent
FRAS1ENSG00000138759ENST00000264895p.H2132Nc.6394C>ASubstitution - Missense
ANK1ENSG00000029534ENST00000347528p.G305Dc.914G>ASubstitution - Missense
ANK1ENSG00000029534ENST00000265709p.D218Hc.652G>CSubstitution - Missense
DMDENSG00000198947ENST00000378677p.?c.175-2A>GUnknown
WDFY3ENSG00000163625ENST00000295888p.V141Vc.423G>ASubstitution - coding silent
WDFY3ENSG00000163625ENST00000295888p.H27Yc.79C>TSubstitution - Missense
ETNPPLENSG00000164089ENST00000296486p.T309Mc.926C>TSubstitution - Missense
COL25A1ENSG00000188517ENST00000399126p.P560Sc.1678C>TSubstitution - Missense
TRANK1ENSG00000168016ENST00000301807p.?c.3537+5G>AUnknown
ELMO3ENSG00000102890ENST00000393997p.?c.352-3C>TUnknown
ENST00000333535_v68p.D1741fs*46c.5221delGDeletion - Frameshift
ENST00000333535_v68p.R1303Qc.3908G>ASubstitution - Missense
UXS1ENSG00000115652ENST00000409501p.?c.865-7C>TUnknown
TRIM28ENSG00000130726ENST00000253024p.?c.1409+7A>TUnknown
NM_003242p.L386Pc.1157T>CSubstitution - Missense
ZNF524ENSG00000171443ENST00000301073p.E262Vc.785A>TSubstitution - Missense
ARSGENSG00000141337ENST00000448504p.A313Ac.939G>ASubstitution - coding silent
SLC45A2ENSG00000164175ENST00000296589p.Y386Dc.1156T>GSubstitution - Missense
TTC31ENSG00000115282ENST00000233623p.?c.1263+5delgUnknown
DYSFENSG00000135636ENST00000258104p.E1113Kc.3337G>ASubstitution - Missense
WBP1ENSG00000239779ENST00000233615p.H185fs*5c.548_549insCInsertion - Frameshift
CDH11ENSG00000140937ENST00000268603p.E144Vc.431A>TSubstitution - Missense
CDH3ENSG00000062038ENST00000429102p.A520Vc.1559C>TSubstitution - Missense
EDC4ENSG00000038358ENST00000358933p.Q1212Hc.3636G>TSubstitution - Missense
GPR149ENSG00000174948ENST00000389740p.G266fs*39c.797delGDeletion - Frameshift
SLCO4C1ENSG00000173930ENST00000310954p.P430Tc.1288C>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.A3525Vc.10574C>TSubstitution - Missense
AGPAT4ENSG00000026652ENST00000366908p.L37Ic.109C>ASubstitution - Missense
ARID1BENSG00000049618ENST00000346085p.S736fs*27c.2201_2202insGInsertion - Frameshift
SYNE1ENSG00000131018ENST00000265368p.E4738fs*34c.14205_14206insAInsertion - Frameshift
SYNE1ENSG00000131018ENST00000423061p.N1274Kc.3822T>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.E497Gc.1490A>GSubstitution - Missense
EGFENSG00000138798ENST00000265171p.?c.2491+3A>GUnknown
ANK2ENSG00000145362ENST00000357077p.E2941*c.8821G>TSubstitution - Nonsense
RUFY1ENSG00000176783ENST00000437570p.?c.279-1G>AUnknown
MYO7BENSG00000169994ENST00000428314p.S1628Rc.4884C>ASubstitution - Missense
EPHA4ENSG00000116106ENST00000281821p.?c.1443+3A>GUnknown
HIP1ENSG00000127946ENST00000336926p.A571Ac.1713C>TSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.I2087fs*5c.6258delCDeletion - Frameshift
RAI2ENSG00000131831ENST00000331511p.Q414Rc.1241A>GSubstitution - Missense
DMDENSG00000198947ENST00000378677p.?c.3592-2A>TUnknown
FLNAENSG00000196924ENST00000369850p.A1562Vc.4685C>TSubstitution - Missense
PIRENSG00000087842ENST00000380420p.N276fs*4c.821_822insAInsertion - Frameshift
F8ENSG00000185010ENST00000360256p.T2260Ac.6778A>GSubstitution - Missense
GREB1ENSG00000196208ENST00000381486p.P580Hc.1739C>ASubstitution - Missense
MAP3K4ENSG00000085511ENST00000392142p.V895Vc.2685A>GSubstitution - coding silent
PEX6ENSG00000124587ENST00000304611p.R452Rc.1356C>TSubstitution - coding silent
COL4A6ENSG00000197565ENST00000334504p.H1148Hc.3444C>TSubstitution - coding silent
SCINENSG00000006747ENST00000297029p.E399Dc.1197G>TSubstitution - Missense
ASB15ENSG00000146809ENST00000451558p.A50Vc.149C>TSubstitution - Missense
PTGISENSG00000124212ENST00000244043p.Y83Yc.249C>TSubstitution - coding silent
GNASENSG00000087460ENST00000371100p.P336Sc.1006C>TSubstitution - Missense
TDRD12ENSG00000173809ENST00000444215p.S23Gc.67A>GSubstitution - Missense
LILRA2ENSG00000239998ENST00000251376p.G77Ec.230G>ASubstitution - Missense
LRRC69ENSG00000214954ENST00000448384p.M270Ic.810G>TSubstitution - Missense
PIWIL2ENSG00000197181ENST00000356766p.D150Ec.450T>ASubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.L2169Pc.6506T>CSubstitution - Missense
ATP6V0D2ENSG00000147614ENST00000285393p.N327Ic.980A>TSubstitution - Missense
NOTUMENSG00000185269ENST00000409678p.V225Lc.673G>CSubstitution - Missense
C17orf59ENSG00000196544ENST00000389017p.P255Lc.764C>TSubstitution - Missense
SDF2ENSG00000132581ENST00000247020p.G122Dc.365G>ASubstitution - Missense
ULK2ENSG00000083290ENST00000361658p.S801fs*2c.2394delADeletion - Frameshift
TMEM67ENSG00000164953ENST00000453321p.Y933Cc.2798A>GSubstitution - Missense
BMP1ENSG00000168487ENST00000306349p.Q327Qc.981A>GSubstitution - coding silent
RIPK2ENSG00000104312ENST00000220751p.I469Ic.1407C>TSubstitution - coding silent
TNKSENSG00000173273ENST00000310430p.L688Lc.2062T>CSubstitution - coding silent
SLC4A4ENSG00000080493ENST00000425175p.P977fs*28c.2928_2929insTInsertion - Frameshift
ANKRD36CENSG00000174501ENST00000456556p.T1727Sc.5179A>TSubstitution - Missense
POFUT2ENSG00000186866ENST00000331343p.G177Gc.531A>GSubstitution - coding silent
SMARCA4ENSG00000127616ENST00000358026p.R89Hc.266G>ASubstitution - Missense
CNTROBENSG00000170037ENST00000380262p.Q377Qc.1131G>ASubstitution - coding silent
RFC1ENSG00000035928ENST00000381897p.D843Dc.2529T>CSubstitution - coding silent
URB1ENSG00000142207ENST00000382751p.M662Tc.1985T>CSubstitution - Missense
CORINENSG00000145244ENST00000273857p.A708Tc.2122G>ASubstitution - Missense
UBN1ENSG00000118900ENST00000396658p.A1102Vc.3305C>TSubstitution - Missense
ROBO2ENSG00000185008ENST00000487694p.D192Ac.575A>CSubstitution - Missense
NOD2ENSG00000167207ENST00000300589p.E453Dc.1359G>TSubstitution - Missense
CCDC96ENSG00000173013ENST00000310085p.G289Sc.865G>ASubstitution - Missense
LMCD1ENSG00000071282ENST00000157600p.E210Kc.628G>ASubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.D312Dc.936T>CSubstitution - coding silent
GPR179ENSG00000188888ENST00000342292p.R146Mc.437G>TSubstitution - Missense
CALD1ENSG00000122786ENST00000361675p.K739Nc.2217G>TSubstitution - Missense
MLLT4ENSG00000130396ENST00000366806p.?c.4812+6delgUnknown
NT5DC2ENSG00000168268ENST00000307076p.E46fs*6c.135delCDeletion - Frameshift
WDR27ENSG00000184465ENST00000448612p.L86Pc.257T>CSubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.K1352Rc.4055A>GSubstitution - Missense
CDH20ENSG00000101542ENST00000262717p.N505Kc.1515C>GSubstitution - Missense
C8orf34ENSG00000165084ENST00000518698p.R328Rc.984G>ASubstitution - coding silent
PPP1R9AENSG00000158528ENST00000433360p.R88Kc.263G>ASubstitution - Missense
LMTK2ENSG00000164715ENST00000297293p.T1410Ac.4228A>GSubstitution - Missense
ZDHHC2ENSG00000104219ENST00000262096p.N317Sc.950A>GSubstitution - Missense
PON3ENSG00000105852ENST00000265627p.D297Yc.889G>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.S19764Ic.59291G>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.S25719Yc.77156C>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.Y21215Cc.63644A>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.F26499Ic.79495T>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.F26566Ic.79696T>ASubstitution - Missense
DIP2AENSG00000160305ENST00000417564p.H221Yc.661C>TSubstitution - Missense
ARHGEF15ENSG00000198844ENST00000361926p.Q298fs*5c.890_891insCInsertion - Frameshift
KIR3DL1ENSG00000167633ENST00000391728p.Q277Kc.829C>ASubstitution - Missense
TCF25ENSG00000141002ENST00000263346p.G244fs*8c.729_730insAInsertion - Frameshift
EMC8ENSG00000131148ENST00000253457p.C82Cc.246C>TSubstitution - coding silent
SHCBP1ENSG00000171241ENST00000303383p.L555Lc.1665G>ASubstitution - coding silent
OTOFENSG00000115155ENST00000272371p.D661fs*5c.1981delGDeletion - Frameshift
TRAK2ENSG00000115993ENST00000332624p.?c.900+1G>AUnknown
ENST00000544929p.P282Sc.844C>TSubstitution - Missense
EFR3BENSG00000084710ENST00000264719p.S384Cc.1150A>TSubstitution - Missense
DNAH7ENSG00000118997ENST00000312428p.I2732fs*2c.8187_8188insAInsertion - Frameshift
DUSP18ENSG00000167065ENST00000404885p.H165Yc.493C>TSubstitution - Missense
PRPF31ENSG00000105618ENST00000321030p.S432Sc.1296C>TSubstitution - coding silent
NM_000933.2p.F385fs*4c.1151delTDeletion - Frameshift
ENST00000344371p.?c.419+3G>AUnknown
ASB7ENSG00000183475ENST00000332783p.R106Mc.317G>TSubstitution - Missense
FSCBENSG00000189139ENST00000340446p.A704Ac.2112T>CSubstitution - coding silent
TXNDC16ENSG00000087301ENST00000281741p.Q709Qc.2127G>ASubstitution - coding silent
ACOT11ENSG00000162390ENST00000343744p.D499Nc.1495G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000344100p.L658Ic.1972C>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000402845p.L688Ic.2062C>ASubstitution - Missense
ENST00000322367p.L193Ic.577C>ASubstitution - Missense
CNTN2ENSG00000184144ENST00000331830p.Y851Yc.2553C>TSubstitution - coding silent
GPR135ENSG00000181619ENST00000395116p.A480Sc.1438G>TSubstitution - Missense
NRDE2ENSG00000119720ENST00000354366p.V125Ac.374T>CSubstitution - Missense
XM_371254.3p.R812Kc.2435G>ASubstitution - Missense
RALGAPA1ENSG00000174373ENST00000389698p.R1158Rc.3472A>CSubstitution - coding silent
BCL11BENSG00000127152ENST00000357195p.R893Sc.2679G>TSubstitution - Missense
SU_LRRK1p.L1919Lc.5757G>ASubstitution - coding silent
BCAR1ENSG00000050820ENST00000393420p.A91Tc.271G>ASubstitution - Missense
ENST00000335142p.H12Nc.34C>ASubstitution - Missense
SGIP1ENSG00000118473ENST00000371037p.F819fs*>10c.2455delTDeletion - Frameshift
DEPDC1ENSG00000024526ENST00000370966p.L480fs*22c.1437_1438insAInsertion - Frameshift
TAS1R1ENSG00000173662ENST00000333172p.P554Pc.1662G>ASubstitution - coding silent
ZNF683ENSG00000176083ENST00000374204p.L309fs*84c.924_925insTInsertion - Frameshift
SPATA13ENSG00000182957ENST00000382108p.E1017Ec.3051G>ASubstitution - coding silent
DNAJC21ENSG00000168724ENST00000303525p.A520Tc.1558G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.Y4452Yc.13356T>CSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.A3604Tc.10810G>ASubstitution - Missense
PLD2ENSG00000129219ENST00000263088p.L245Lc.735G>TSubstitution - coding silent
CENPNENSG00000166451ENST00000393335p.S183Sc.549C>TSubstitution - coding silent
FMNL1ENSG00000184922ENST00000331495p.?c.2599-3C>TUnknown
ENST00000331986p.L3903Lc.11707C>TSubstitution - coding silent
ELTD1ENSG00000162618ENST00000370742p.D118Yc.352G>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S281Sc.843T>CSubstitution - coding silent
MYSM1ENSG00000162601ENST00000472487p.R480*c.1438A>TSubstitution - Nonsense
LRRC40ENSG00000066557ENST00000370952p.R256Cc.766C>TSubstitution - Missense
ENO1ENSG00000074800ENST00000234590p.R269Gc.805A>GSubstitution - Missense
LEPRENSG00000116678ENST00000349533p.Q501fs*14c.1495_1496insTInsertion - Frameshift
TNS1ENSG00000079308ENST00000171887p.P1267Tc.3799C>ASubstitution - Missense
CST9ENSG00000173335ENST00000376971p.A148Vc.443C>TSubstitution - Missense
APOBENSG00000084674ENST00000233242p.E2153*c.6457G>TSubstitution - Nonsense
ABCA12ENSG00000144452ENST00000272895p.N1671fs*2c.5005_5006insAInsertion - Frameshift
MYT1LENSG00000186487ENST00000399161p.N1099Tc.3296A>CSubstitution - Missense
CWC22ENSG00000163510ENST00000410053p.D249Dc.747C>TSubstitution - coding silent
ZDBF2ENSG00000204186ENST00000374423p.Q392*c.1174C>TSubstitution - Nonsense
INO80DENSG00000114933ENST00000403263p.R552Wc.1654C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.A4187Vc.12560C>TSubstitution - Missense
XRCC5ENSG00000079246ENST00000392133p.A8Vc.23C>TSubstitution - Missense
CCDC78ENSG00000162004ENST00000293889p.L86Lc.256C>TSubstitution - coding silent
ESF1ENSG00000089048ENST00000202816p.K639Rc.1916A>GSubstitution - Missense
BCMO1ENSG00000135697ENST00000258168p.Q528fs*5c.1580_1581insAInsertion - Frameshift
DENND1CENSG00000205744ENST00000381480p.F35Yc.104T>ASubstitution - Missense
INPP5KENSG00000132376ENST00000421807p.T120Ic.359C>TSubstitution - Missense
NCOR1ENSG00000141027ENST00000268712p.T1449Tc.4347G>ASubstitution - coding silent
ENST00000215591p.H250Hc.750C>TSubstitution - coding silent
ENST00000331986p.P5057Pc.15171G>ASubstitution - coding silent
MISPENSG00000099812ENST00000215582p.S626Sc.1878T>CSubstitution - coding silent
BCORL1ENSG00000085185ENST00000218147p.E1052Ec.3156G>ASubstitution - coding silent
ALG13ENSG00000101901ENST00000251943p.T221Tc.663T>GSubstitution - coding silent
C2orf88ENSG00000187699ENST00000340623p.F10Fc.30C>TSubstitution - coding silent
LRP3ENSG00000130881ENST00000253193p.Y156Yc.468C>TSubstitution - coding silent
PNKPENSG00000039650ENST00000322344p.V287Mc.859G>ASubstitution - Missense
CELF5ENSG00000161082ENST00000292672p.T92Sc.275C>GSubstitution - Missense
NM_012216.2p.N472Nc.1416C>TSubstitution - coding silent
BIRC5ENSG00000089685ENST00000350051p.Q92Rc.275A>GSubstitution - Missense
HSD17B3ENSG00000130948ENST00000375263p.L167Lc.499C>TSubstitution - coding silent
MGAT5BENSG00000167889ENST00000428789p.V671Lc.2011G>CSubstitution - Missense
AHNAKENSG00000124942ENST00000378024p.V2494Gc.7481T>GSubstitution - Missense
CABP4ENSG00000175544ENST00000325656p.P67Lc.200C>TSubstitution - Missense
CSF3RENSG00000119535ENST00000373103p.D729Gc.2186A>GSubstitution - Missense
SDC3ENSG00000162512ENST00000339394p.K342Nc.1026G>TSubstitution - Missense
STOML3ENSG00000133115ENST00000379631p.L181Pc.542T>CSubstitution - Missense
PDZRN4ENSG00000165966ENST00000402685p.Q532fs*19c.1586_1587insAInsertion - Frameshift
KIF21AENSG00000139116ENST00000395670p.K1209Kc.3627A>GSubstitution - coding silent
RAPGEF3ENSG00000079337ENST00000395358p.H481Yc.1441C>TSubstitution - Missense
GSTO1ENSG00000148834ENST00000369713p.P60Sc.178C>TSubstitution - Missense
ARHGAP30ENSG00000186517ENST00000368016p.R390*c.1168C>TSubstitution - Nonsense
MOB2ENSG00000182208ENST00000329957p.A50Ac.150G>ASubstitution - coding silent
PDE3BENSG00000152270ENST00000282096p.A255fs*85c.755_756insGInsertion - Frameshift
FAM189A1ENSG00000104059ENST00000261275p.*540*c.1619G>ASubstitution - coding silent
LY9ENSG00000122224ENST00000368039p.L40Fc.118C>TSubstitution - Missense
ATF6ENSG00000118217ENST00000367942p.R508Hc.1523G>ASubstitution - Missense
ENST00000367790p.A569Ac.1707C>ASubstitution - coding silent
MRPS14ENSG00000120333ENST00000476371p.G122Rc.364G>ASubstitution - Missense
ALOX5APENSG00000132965ENST00000380490p.?c.70+2T>CUnknown
PRRX1ENSG00000116132ENST00000239461p.S223Sc.669C>TSubstitution - coding silent
POGZENSG00000143442ENST00000271715p.S799Sc.2397C>TSubstitution - coding silent
DHRS3ENSG00000162496ENST00000376223p.G300Wc.898G>TSubstitution - Missense
CCKBRENSG00000110148ENST00000334619p.L336Pc.1007T>CSubstitution - Missense
ZNF365ENSG00000138311ENST00000395254p.V211Ac.632T>CSubstitution - Missense
SLC22A25ENSG00000196600ENST00000306494p.E86*c.256G>TSubstitution - Nonsense
PCDH15ENSG00000150275ENST00000414778p.N1088Nc.3264T>CSubstitution - coding silent
ELMSAN1ENSG00000156030ENST00000286523p.R345Hc.1034G>ASubstitution - Missense
LTBP2ENSG00000119681ENST00000261978p.?c.3907+6T>CUnknown
ZWINTENSG00000122952ENST00000373944p.D50Dc.150C>TSubstitution - coding silent
TGFB3ENSG00000119699ENST00000238682p.P284Hc.851C>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.A1423Tc.4267G>ASubstitution - Missense
MKL2ENSG00000186260ENST00000341243p.R91Qc.272G>ASubstitution - Missense
C10orf71ENSG00000177354ENST00000374144p.A460Sc.1378G>TSubstitution - Missense
WDR3ENSG00000065183ENST00000349139p.M322Ic.966G>ASubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.A1121Vc.3362C>TSubstitution - Missense
SRRM4ENSG00000139767ENST00000267260p.S272Ic.815G>TSubstitution - Missense
GCN1L1ENSG00000089154ENST00000300648p.A1903Ac.5709G>ASubstitution - coding silent
ZFP69ENSG00000187815ENST00000372706p.R337Rc.1011A>GSubstitution - coding silent
ADAM21ENSG00000139985ENST00000267499p.N301fs*21c.896_897insAInsertion - Frameshift
MALRD1ENSG00000204740ENST00000455457p.?c.799+8A>TUnknown
PAMR1ENSG00000149090ENST00000278360p.P674Lc.2021C>TSubstitution - Missense
SYNJ2BPENSG00000213463ENST00000256366p.Y35Cc.104A>GSubstitution - Missense
MMP20ENSG00000137674ENST00000260228p.N66Kc.198T>ASubstitution - Missense
MSANTD4ENSG00000170903ENST00000301919p.Q234*c.700C>TSubstitution - Nonsense
CSTF3ENSG00000176102ENST00000323959p.E434fs*1c.1294_1295insTInsertion - Frameshift
USP47ENSG00000170242ENST00000339865p.G453*c.1357G>TSubstitution - Nonsense
ATMENSG00000149311ENST00000278616p.I1581fs*5c.4735_4736insAInsertion - Frameshift
LRRC18ENSG00000165383ENST00000374160p.V201Vc.603G>TSubstitution - coding silent
AKNAD1ENSG00000162641ENST00000370001p.E325Dc.975A>TSubstitution - Missense
KCND3ENSG00000171385ENST00000369697p.A266Vc.797C>TSubstitution - Missense
DENND2DENSG00000162777ENST00000357640p.N128Sc.383A>GSubstitution - Missense
GPRC5BENSG00000167191ENST00000300571p.N342Ic.1025A>TSubstitution - Missense
EMC1ENSG00000127463ENST00000477853p.E703Ac.2108A>CSubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.I1032Vc.3094A>GSubstitution - Missense
ITGA8ENSG00000077943ENST00000378076p.D467Ec.1401T>ASubstitution - Missense
CHD4ENSG00000111642ENST00000357008p.E1613fs*1c.4830_4831insCInsertion - Frameshift
TRHDEENSG00000072657ENST00000261180p.V310Mc.928G>ASubstitution - Missense
MDM2ENSG00000135679ENST00000462284p.C314Yc.941G>ASubstitution - Missense
CLCC1ENSG00000121940ENST00000369970p.D377fs*2c.1129_1130delGADeletion - Frameshift
TRIM64BENSG00000189253ENST00000329862p.T58fs*19c.172delADeletion - Frameshift
SLC41A1ENSG00000133065ENST00000367137p.T509Tc.1527G>ASubstitution - coding silent
TCF12ENSG00000140262ENST00000438423p.A649Vc.1946C>TSubstitution - Missense
MMP17ENSG00000198598ENST00000360564p.T144Tc.432G>ASubstitution - coding silent
FAT3ENSG00000165323ENST00000409404p.G569*c.1705G>TSubstitution - Nonsense
OR2L13ENSG00000196071ENST00000358120p.S38Sc.114G>ASubstitution - coding silent
BMP1ENSG00000168487ENST00000397816p.Q327Qc.981A>GSubstitution - coding silent
PLCL2ENSG00000154822ENST00000418129p.K919Nc.2757G>TSubstitution - Missense
ENST00000570743p.S624Fc.1871C>TSubstitution - Missense
PLXNB3ENSG00000198753ENST00000538966p.V647Ic.1939G>ASubstitution - Missense
NADKENSG00000008130ENST00000341991p.E445delEc.1334_1336delAGGDeletion - In frame
LCA5ENSG00000135338ENST00000392959p.K71Nc.213G>TSubstitution - Missense
CAMK2AENSG00000070808ENST00000398376p.D156Dc.468C>TSubstitution - coding silent
PCDHGA5ENSG00000253485ENST00000518069p.D216Yc.646G>TSubstitution - Missense
VEGFBENSG00000173511ENST00000309422p.K129fs*5c.379delADeletion - Frameshift
ELK3ENSG00000111145ENST00000228741p.V176fs*14c.518_519insCInsertion - Frameshift
PTCH1ENSG00000185920ENST00000331920p.N97fs*43c.290_291insAInsertion - Frameshift
PCLOENSG00000186472ENST00000333891p.K2442fs*2c.7325delADeletion - Frameshift
RAPH1ENSG00000173166ENST00000319170p.P766fs*157c.2294_2295insCInsertion - Frameshift
SLC35A5ENSG00000138459ENST00000492406p.Y300fs*8c.892delTDeletion - Frameshift
SMCHD1ENSG00000101596ENST00000261598p.M779fs*12c.2329delADeletion - Frameshift
DMPKENSG00000104936ENST00000343373p.P63fs*7c.188delCDeletion - Frameshift
ENST00000416172_v68p.A221fs*22c.658delGDeletion - Frameshift
NOTCH3ENSG00000074181ENST00000263388p.P42fs*194c.125delCDeletion - Frameshift
MZT2BENSG00000152082ENST00000281871p.S112Sc.336C>TSubstitution - coding silent
PSMD1ENSG00000173692ENST00000308696p.N355fs*17c.1059delADeletion - Frameshift
SV2AENSG00000159164ENST00000369146p.S127fs*2c.374_375insGInsertion - Frameshift
SLITRK5ENSG00000165300ENST00000325089p.P891Lc.2672C>TSubstitution - Missense
FOXC2ENSG00000176692ENST00000320354p.N427Sc.1280A>GSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.T4706fs*4c.14116delADeletion - Frameshift
ANKRD30AENSG00000148513ENST00000361713p.T238Ac.712A>GSubstitution - Missense
SYT15ENSG00000204176ENST00000374321p.C33Yc.98G>ASubstitution - Missense
ACACBENSG00000076555ENST00000377848p.S1929Rc.5787C>ASubstitution - Missense
HIF3AENSG00000124440ENST00000377670p.A368Tc.1102G>ASubstitution - Missense
SNAP47ENSG00000143740ENST00000366759p.A365fs*14c.1088delCDeletion - Frameshift
IL24ENSG00000162892ENST00000294984p.L108Ic.322C>ASubstitution - Missense
GRAMD1BENSG00000023171ENST00000529750p.Q62Qc.186G>ASubstitution - coding silent
GLUD1ENSG00000148672ENST00000277865p.A184Sc.550G>TSubstitution - Missense
ENST00000412131p.L1667Lc.5001G>TSubstitution - coding silent
NAV3ENSG00000067798ENST00000397909p.T204Ac.610A>GSubstitution - Missense
AGAP2ENSG00000135439ENST00000547588p.K832Kc.2496G>ASubstitution - coding silent
FAM90A1ENSG00000171847ENST00000307435p.K306fs*19c.915_916insCInsertion - Frameshift
OR10J3ENSG00000196266ENST00000332217p.R273Sc.819A>TSubstitution - Missense
DCTN2ENSG00000175203ENST00000434715p.P205fs*32c.614delCDeletion - Frameshift
ENST00000458043_v65p.E1713Dc.5139A>TSubstitution - Missense
CD27ENSG00000139193ENST00000266557p.P67Qc.200C>ASubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.P8361Sc.25081C>TSubstitution - Missense
CCDC15ENSG00000149548ENST00000344762p.V406Vc.1218G>ASubstitution - coding silent
MRPL46ENSG00000259494ENST00000312475p.L51Lc.151T>CSubstitution - coding silent
MKI67ENSG00000148773ENST00000368654p.L2443Lc.7329C>ASubstitution - coding silent
OATENSG00000065154ENST00000368845p.V304Vc.912G>ASubstitution - coding silent
POU6F1ENSG00000184271ENST00000333640p.?c.391+4A>CUnknown
LDHBENSG00000111716ENST00000396076p.S39Nc.116G>ASubstitution - Missense
SLC35F3ENSG00000183780ENST00000366618p.R201Qc.602G>ASubstitution - Missense
CACNA2D4ENSG00000151062ENST00000382722p.L1132Lc.3396G>ASubstitution - coding silent
SLC35F3ENSG00000183780ENST00000366618p.K318Rc.953A>GSubstitution - Missense
POLEENSG00000177084ENST00000320574p.L1608Lc.4822C>TSubstitution - coding silent
RPS6KB2ENSG00000175634ENST00000312629p.R419Qc.1256G>ASubstitution - Missense
FGF14ENSG00000102466ENST00000376143p.I107Ic.321A>TSubstitution - coding silent
PATL1ENSG00000166889ENST00000300146p.P251fs*46c.750delTDeletion - Frameshift
NGDNENSG00000129460ENST00000397154p.L272Pc.815T>CSubstitution - Missense
BUB3ENSG00000154473ENST00000368865p.?c.972-5T>CUnknown
TICRRENSG00000140534ENST00000268138p.G1786*c.5356G>TSubstitution - Nonsense
ACADSBENSG00000196177ENST00000358776p.G391fs*2c.1167delGDeletion - Frameshift
TACC2ENSG00000138162ENST00000369005p.A2468Tc.7402G>ASubstitution - Missense
STPG1ENSG00000001460ENST00000374409p.S138Gc.412A>GSubstitution - Missense
PYROXD2ENSG00000119943ENST00000370575p.H301Yc.901C>TSubstitution - Missense
C12orf55ENSG00000188596ENST00000298953p.R120fs*17c.352_353insCInsertion - Frameshift
ENST00000251757p.L155Lc.463C>TSubstitution - coding silent
ENST00000359455p.?c.78-9T>CUnknown
ARHGAP17ENSG00000140750ENST00000289968p.L69fs*33c.199-1_199insAUnknown
PKD1ENSG00000008710ENST00000262304p.P2253Pc.6759C>ASubstitution - coding silent
ZDHHC12ENSG00000160446ENST00000406904p.?c.101-10G>AUnknown
PTGESENSG00000148344ENST00000340607p.D64Nc.190G>ASubstitution - Missense
SATB1ENSG00000182568ENST00000338745p.M357Lc.1069A>TSubstitution - Missense
FPGSENSG00000136877ENST00000373247p.Q471Qc.1413G>ASubstitution - coding silent
SH3PXD2BENSG00000174705ENST00000311601p.R349Lc.1046G>TSubstitution - Missense
IL31RAENSG00000164509ENST00000447346p.R161Sc.481C>ASubstitution - Missense
MIER3ENSG00000155545ENST00000381213p.L39Ic.115C>ASubstitution - Missense
FAM153BENSG00000182230ENST00000253490p.Q252Rc.755A>GSubstitution - Missense
NM_139056.1p.N291Sc.872A>GSubstitution - Missense
SCN1AENSG00000144285ENST00000375405p.P358Pc.1074C>ASubstitution - coding silent
SCN1AENSG00000144285ENST00000375405p.T217Kc.650C>ASubstitution - Missense
C9orf91ENSG00000157693ENST00000288502p.T44Ac.130A>GSubstitution - Missense
ENST00000395214p.?c.854+6T>CUnknown
TGENSG00000042832ENST00000220616p.M2444Ic.7332G>ASubstitution - Missense
TRIM32ENSG00000119401ENST00000450136p.Y608fs*2c.1815_1816insGInsertion - Frameshift
EFR3AENSG00000132294ENST00000254624p.V144fs*13c.429_430insTInsertion - Frameshift
CPN2ENSG00000178772ENST00000323830p.S367Gc.1099A>GSubstitution - Missense
TAPT1ENSG00000169762ENST00000405303p.H270Yc.808C>TSubstitution - Missense
CTNNA3ENSG00000183230ENST00000545309p.S56Nc.167G>ASubstitution - Missense
BLNKENSG00000095585ENST00000427367p.?c.934+7A>TUnknown
TDRD5ENSG00000162782ENST00000444136p.L336Ic.1006T>ASubstitution - Missense
CENPLENSG00000120334ENST00000356198p.R93Sc.279A>TSubstitution - Missense
S100A1ENSG00000160678ENST00000368696p.L38Mc.112C>ASubstitution - Missense
MEF2DENSG00000116604ENST00000340875p.Y33Cc.98A>GSubstitution - Missense
EP400ENSG00000183495ENST00000333577p.D951Vc.2852A>TSubstitution - Missense
EP400ENSG00000183495ENST00000333577p.I2010Vc.6028A>GSubstitution - Missense
ARL6IP4ENSG00000182196ENST00000392435p.?c.899+1G>AUnknown
NTMENSG00000182667ENST00000427481p.G102Dc.305G>ASubstitution - Missense
MYO1EENSG00000157483ENST00000288235p.?c.1188+7C>TUnknown
CTAGE5ENSG00000150527ENST00000341749p.K121Kc.363G>ASubstitution - coding silent
SNAP47ENSG00000143740ENST00000315781p.F317Fc.951T>CSubstitution - coding silent
ACOT7ENSG00000097021ENST00000377855p.G97Rc.289G>ASubstitution - Missense
COL20A1ENSG00000101203ENST00000422202p.P966Pc.2898G>ASubstitution - coding silent
STX16ENSG00000124222ENST00000361770p.?c.202-7T>GUnknown
PHKA1ENSG00000067177ENST00000373539p.I1171fs*7c.3511_3512insAInsertion - Frameshift
RGPD4ENSG00000196862ENST00000354986p.D990fs*21c.2961_2962insAInsertion - Frameshift
MERTKENSG00000153208ENST00000295408p.S946fs*7c.2835_2836insCInsertion - Frameshift
HYOU1ENSG00000149428ENST00000543287p.K19fs*8c.54delGDeletion - Frameshift
ADAMTSL4ENSG00000143382ENST00000369041p.P614fs*10c.1837delCDeletion - Frameshift
PDZRN3ENSG00000121440ENST00000263666p.S450Sc.1350T>CSubstitution - coding silent
SCN1AENSG00000144285ENST00000423058p.N601Nc.1803C>TSubstitution - coding silent
PTOV1ENSG00000104960ENST00000221557p.?c.1073+1G>AUnknown
SLC8A1ENSG00000183023ENST00000406785p.R905Qc.2714G>ASubstitution - Missense
SLC8A1ENSG00000183023ENST00000542024p.R905Qc.2714G>ASubstitution - Missense
TMEM239ENSG00000198326ENST00000361033p.L175Lc.523C>TSubstitution - coding silent
ASXL1ENSG00000171456ENST00000306058p.G1476Sc.4426G>ASubstitution - Missense
MAP3K13ENSG00000073803ENST00000535426p.S551Sc.1653C>TSubstitution - coding silent
SSUH2ENSG00000125046ENST00000544814p.?c.210-3C>TUnknown
BAI3ENSG00000135298ENST00000238918p.?c.1857+2T>CUnknown
ZNF737ENSG00000237440ENST00000427401p.H383Yc.1147C>TSubstitution - Missense
IL31RAENSG00000164509ENST00000359040p.V469Vc.1407C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000448038p.L4619Lc.13857T>CSubstitution - coding silent
RUFY1ENSG00000176783ENST00000377001p.?c.603-1G>AUnknown
C9orf24ENSG00000164972ENST00000444429p.W3*c.8G>ASubstitution - Nonsense
GATA1ENSG00000102145ENST00000376665p.A211Vc.632C>TSubstitution - Missense
NCS1ENSG00000107130ENST00000458469p.Q149Hc.447G>TSubstitution - Missense
NM_004667.3p.T2353Sc.7058C>GSubstitution - Missense
DCAF4L2ENSG00000176566ENST00000319675p.L349Fc.1045C>TSubstitution - Missense
ATXN1ENSG00000124788ENST00000244769p.P703Pc.2109C>TSubstitution - coding silent
KDM3AENSG00000115548ENST00000409556p.L520Lc.1560C>TSubstitution - coding silent
CSMD1ENSG00000183117ENST00000539096p.V751Mc.2251G>ASubstitution - Missense
CACNA2D1ENSG00000153956ENST00000356253p.K649Nc.1947G>TSubstitution - Missense
SERINC5ENSG00000164300ENST00000507668p.H65Hc.195C>TSubstitution - coding silent
TBC1D32ENSG00000146350ENST00000398212p.?c.935+5G>AUnknown
ZHX1ENSG00000165156ENST00000395571p.N599Nc.1797T>CSubstitution - coding silent
MCM9ENSG00000111877ENST00000316316p.Q927Rc.2780A>GSubstitution - Missense
COL15A1ENSG00000204291ENST00000375001p.P623Ac.1867C>GSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.G2011Rc.6031G>ASubstitution - Missense
NM_002912.1p.P2139Pc.6417T>CSubstitution - coding silent
BZRAP1ENSG00000005379ENST00000355701p.P10Pc.30T>ASubstitution - coding silent
GRNENSG00000030582ENST00000053867p.R110*c.328C>TSubstitution - Nonsense
FAM171A2ENSG00000161682ENST00000293443p.Q629*c.1885C>TSubstitution - Nonsense
HEXIM1ENSG00000186834ENST00000332499p.L184Pc.551T>CSubstitution - Missense
SORBS2ENSG00000154556ENST00000284776p.A361Tc.1081G>ASubstitution - Missense
PLRG1ENSG00000171566ENST00000499023p.G202fs*24c.602_603insTInsertion - Frameshift
MEGF10ENSG00000145794ENST00000274473p.S922Ic.2765G>TSubstitution - Missense
ARHGAP10ENSG00000071205ENST00000336498p.S404Gc.1210A>GSubstitution - Missense
TMEM184CENSG00000164168ENST00000296582p.C116Yc.347G>ASubstitution - Missense
ECT2ENSG00000114346ENST00000427830p.S921Sc.2763T>CSubstitution - coding silent
VPS13AENSG00000197969ENST00000376634p.N1572fs*2c.4715_4716insAInsertion - Frameshift
CAMSAP1ENSG00000130559ENST00000389532p.N1062Sc.3185A>GSubstitution - Missense
TLE1ENSG00000196781ENST00000376499p.Y665Hc.1993T>CSubstitution - Missense
TRIOENSG00000038382ENST00000344204p.L2031fs*9c.6084_6085insTInsertion - Frameshift
TRIOENSG00000038382ENST00000344204p.Y2983Yc.8949C>TSubstitution - coding silent
COL12A1ENSG00000111799ENST00000322507p.L1177Ic.3529C>ASubstitution - Missense
ELOVL4ENSG00000118402ENST00000369816p.G309Rc.925G>ASubstitution - Missense
ENST00000369268p.M385Vc.1153A>GSubstitution - Missense
ENST00000369584p.R120Mc.359G>TSubstitution - Missense
RHOT1ENSG00000126858ENST00000358365p.S126Sc.378T>CSubstitution - coding silent
PCDHGB7ENSG00000254122ENST00000398594p.P808Pc.2424G>ASubstitution - coding silent
PCDHGA5ENSG00000253485ENST00000518069p.P810Pc.2430G>ASubstitution - coding silent
NM_006218.1p.P283Sc.847C>TSubstitution - Missense
PCDHGB2ENSG00000253910ENST00000522605p.R641Rc.1923C>TSubstitution - coding silent
PLCL2ENSG00000154822ENST00000396755p.K919Nc.2757G>TSubstitution - Missense
CATSPERGENSG00000099338ENST00000409235p.?c.2557-10C>AUnknown
YKT6ENSG00000106636ENST00000223369p.Y4Hc.10T>CSubstitution - Missense
EGFRENSG00000146648ENST00000275493p.E928Gc.2783A>GSubstitution - Missense
ENSG00000215346ENST00000400102p.L24Vc.70T>GSubstitution - Missense
TMED6ENSG00000157315ENST00000288025p.V12Ac.35T>CSubstitution - Missense
NFAT5ENSG00000102908ENST00000432919p.V323Ac.968T>CSubstitution - Missense
VPS13BENSG00000132549ENST00000357162p.I3359Nc.10076T>ASubstitution - Missense
TAF6ENSG00000106290ENST00000344095p.A204Gc.611C>GSubstitution - Missense
ENST00000316490p.P2942Sc.8824C>TSubstitution - Missense
AXLENSG00000167601ENST00000301178p.V351Mc.1051G>ASubstitution - Missense
NFKBIBENSG00000104825ENST00000313582p.A139Vc.416C>TSubstitution - Missense
MCF2ENSG00000101977ENST00000370578p.T141Ic.422C>TSubstitution - Missense
PAF1ENSG00000006712ENST00000221265p.E152Dc.456G>TSubstitution - Missense
TRIM39ENSG00000204599ENST00000376656p.I42Ic.126T>CSubstitution - coding silent
THSD7AENSG00000005108ENST00000423059p.T896Ic.2687C>TSubstitution - Missense
GABRA1ENSG00000022355ENST00000393943p.P107Pc.321T>CSubstitution - coding silent
MDC1ENSG00000137337ENST00000376406p.H1739Hc.5217T>CSubstitution - coding silent
PTPRN2ENSG00000155093ENST00000404321p.V415Dc.1244T>ASubstitution - Missense
PLD3ENSG00000105223ENST00000409587p.R424Rc.1272C>TSubstitution - coding silent
PRXENSG00000105227ENST00000324001p.A648Ac.1944T>CSubstitution - coding silent
SDK1ENSG00000146555ENST00000404826p.L1818Fc.5452C>TSubstitution - Missense
PDE1CENSG00000154678ENST00000396191p.A641Vc.1922C>TSubstitution - Missense
EEF2KENSG00000103319ENST00000263026p.Q286Kc.856C>ASubstitution - Missense
NOTCH3ENSG00000074181ENST00000263388p.R1231fs*34c.3686_3687insTInsertion - Frameshift
LYPD6ENSG00000187123ENST00000409381p.T142Ac.424A>GSubstitution - Missense
ZNF224ENSG00000267680ENST00000336976p.I107fs*4c.319_320insAInsertion - Frameshift
SEMG1ENSG00000124233ENST00000372781p.Q18Rc.53A>GSubstitution - Missense
FBXO9ENSG00000112146ENST00000244426p.Q170Qc.510G>ASubstitution - coding silent
DEFB112ENSG00000180872ENST00000322246p.M15fs*13c.37_38insAInsertion - Frameshift
GPR115ENSG00000153294ENST00000327753p.T147Sc.440C>GSubstitution - Missense
ENST00000319396p.R350Lc.1049G>TSubstitution - Missense
ENST00000319396p.R350Lc.1049G>TSubstitution - Missense
CCNL1ENSG00000163660ENST00000295926p.?c.674+8A>GUnknown
DMTF1ENSG00000135164ENST00000394703p.A251Ac.753G>ASubstitution - coding silent
MAGEB4ENSG00000120289ENST00000378982p.E145Ec.435G>ASubstitution - coding silent
HEATR2ENSG00000164818ENST00000297440p.A592Tc.1774G>ASubstitution - Missense
PHKA2ENSG00000044446ENST00000379942p.G122Dc.365G>ASubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.L2786Lc.8358G>ASubstitution - coding silent
PARP15ENSG00000173200ENST00000464300p.L370Ic.1108T>ASubstitution - Missense
ITM2CENSG00000135916ENST00000326427p.R177fs*34c.527_528insCInsertion - Frameshift
RUFY4ENSG00000188282ENST00000344321p.E373fs*25c.1113delGDeletion - Frameshift
SLC23A3ENSG00000213901ENST00000295738p.P194Pc.582C>ASubstitution - coding silent
COL6A3ENSG00000163359ENST00000295550p.V658Mc.1972G>ASubstitution - Missense
SH3BP4ENSG00000130147ENST00000344528p.K137Mc.410A>TSubstitution - Missense
ACE2ENSG00000130234ENST00000252519p.F314Ic.940T>ASubstitution - Missense
COL6A3ENSG00000163359ENST00000295550p.G1451Dc.4352G>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.Q1229Rc.3686A>GSubstitution - Missense
C7orf62ENSG00000164645ENST00000297203p.L175Ic.523C>ASubstitution - Missense
CDKL5ENSG00000008086ENST00000379996p.?c.146-8C>TUnknown
MAGI2ENSG00000187391ENST00000354212p.G625*c.1873G>TSubstitution - Nonsense
TYW1ENSG00000198874ENST00000359626p.L560Fc.1680A>TSubstitution - Missense
COL6A6ENSG00000206384ENST00000358511p.S1228Rc.3682A>CSubstitution - Missense
SAMM50ENSG00000100347ENST00000350028p.V446Ic.1336G>ASubstitution - Missense
USP34ENSG00000115464ENST00000398571p.T87Ic.260C>TSubstitution - Missense
SEMA5BENSG00000082684ENST00000451055p.A654Tc.1960G>ASubstitution - Missense
PLXNA1ENSG00000114554ENST00000393409p.?c.4774-8G>AUnknown
PLXND1ENSG00000004399ENST00000324093p.S1205Nc.3614G>ASubstitution - Missense
FAM161AENSG00000170264ENST00000307507p.K162fs*29c.486delADeletion - Frameshift
TMCC1ENSG00000172765ENST00000393238p.Q570Rc.1709A>GSubstitution - Missense
FAM124BENSG00000124019ENST00000409685p.A152Ac.456C>TSubstitution - coding silent
TRIP12ENSG00000153827ENST00000283943p.S1241Gc.3721A>GSubstitution - Missense
FREM3ENSG00000183090ENST00000329798p.T151Ic.452C>TSubstitution - Missense
CLASRPENSG00000104859ENST00000221455p.?c.299+10C>AUnknown
CD3EAPENSG00000117877ENST00000309424p.N17fs*19c.43delCDeletion - Frameshift
IL4RENSG00000077238ENST00000395762p.V12Mc.34G>ASubstitution - Missense
CALN1ENSG00000183166ENST00000395275p.Y112Cc.335A>GSubstitution - Missense
LRFN2ENSG00000156564ENST00000338305p.R388Cc.1162C>TSubstitution - Missense
TSR2ENSG00000158526ENST00000375151p.?c.173-6A>TUnknown
CILP2ENSG00000160161ENST00000291495p.R88Rc.264C>TSubstitution - coding silent
ZCCHC5ENSG00000179300ENST00000321110p.D457Ec.1371T>ASubstitution - Missense
COMPENSG00000105664ENST00000222271p.P490Lc.1469C>TSubstitution - Missense
CNTLNENSG00000044459ENST00000380641p.I389Mc.1167A>GSubstitution - Missense
OPHN1ENSG00000079482ENST00000355520p.N107Nc.321T>CSubstitution - coding silent
EHMT1ENSG00000181090ENST00000460843p.?c.2383-8T>GUnknown
FOXO4ENSG00000184481ENST00000374259p.L402fs*18c.1197delGDeletion - Frameshift
LRP1BENSG00000168702ENST00000389484p.N3485fs*33c.10454delADeletion - Frameshift
ARHGEF28ENSG00000214944ENST00000545377p.T1659Mc.4976C>TSubstitution - Missense
RNF8ENSG00000112130ENST00000373479p.N171Nc.513T>CSubstitution - coding silent
CELSR3ENSG00000008300ENST00000164024p.P2403Hc.7208C>ASubstitution - Missense
COL4A3BPENSG00000113163ENST00000380494p.I391Vc.1171A>GSubstitution - Missense
COL4A3BPENSG00000113163ENST00000405807p.I263Vc.787A>GSubstitution - Missense
ADCY2ENSG00000078295ENST00000338316p.H481Hc.1443C>TSubstitution - coding silent
PDE8BENSG00000113231ENST00000264917p.E450Kc.1348G>ASubstitution - Missense
PTCD2ENSG00000049883ENST00000380639p.F332Sc.995T>CSubstitution - Missense
AGGF1ENSG00000164252ENST00000312916p.P698Pc.2094T>CSubstitution - coding silent
IFNA16ENSG00000147885ENST00000380216p.D106Nc.316G>ASubstitution - Missense
CBWD1ENSG00000172785ENST00000377447p.?c.490+49_528+957del2455Unknown
IGBP1ENSG00000089289ENST00000342206p.L59Fc.175C>TSubstitution - Missense
TAF1ENSG00000147133ENST00000276072p.K1030Nc.3090A>CSubstitution - Missense
ZBTB24ENSG00000112365ENST00000230122p.Q392*c.1174C>TSubstitution - Nonsense
ENST00000321784p.K163Kc.489A>GSubstitution - coding silent
DSTENSG00000151914ENST00000370769p.R3643Hc.10928G>ASubstitution - Missense
ICAM1ENSG00000090339ENST00000264832p.A489Ac.1467C>TSubstitution - coding silent
DACH2ENSG00000126733ENST00000373131p.A340Tc.1018G>ASubstitution - Missense
PTPRMENSG00000173482ENST00000332175p.N1194fs*3c.3579delADeletion - Frameshift
RASGRF2ENSG00000113319ENST00000265080p.V1057Mc.3169G>ASubstitution - Missense
ENST00000356127p.W20983*c.62949G>ASubstitution - Nonsense
SMC6ENSG00000163029ENST00000448223p.S970Sc.2910A>GSubstitution - coding silent
NM_003319p.M24933Ic.74799G>ASubstitution - Missense
AGPSENSG00000018510ENST00000264167p.?c.1233+2T>CUnknown
OSBPL6ENSG00000079156ENST00000190611p.?c.2302-1G>AUnknown
ZNF816ENSG00000180257ENST00000357666p.P228Hc.683C>ASubstitution - Missense
CORO7ENSG00000262246ENST00000251166p.T618Ac.1852A>GSubstitution - Missense
BCKDKENSG00000103507ENST00000394951p.?c.846-6G>AUnknown
SHISA6ENSG00000188803ENST00000432116p.S241Yc.722C>ASubstitution - Missense
ZNF808ENSG00000198482ENST00000359798p.R783Sc.2349A>TSubstitution - Missense
ENSG00000268500ENST00000429354p.L257Rc.770T>GSubstitution - Missense
ZNF267ENSG00000185947ENST00000300870p.T390Tc.1170T>CSubstitution - coding silent
VWA3BENSG00000168658ENST00000477737p.V444Dc.1331T>ASubstitution - Missense
KIF3CENSG00000084731ENST00000264712p.R563Qc.1688G>ASubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.L717Pc.2150T>CSubstitution - Missense
GCKRENSG00000084734ENST00000264717p.D623Vc.1868A>TSubstitution - Missense
SENP5ENSG00000119231ENST00000323460p.V185Vc.555C>TSubstitution - coding silent
UBE2D3ENSG00000109332ENST00000357194p.?c.204+5G>AUnknown
TOP2BENSG00000077097ENST00000435706p.?c.4363+10T>CUnknown
COLEC11ENSG00000118004ENST00000236693p.A24Ac.72G>ASubstitution - coding silent
ADH7ENSG00000196344ENST00000209665p.E251Gc.752A>GSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.G2966Vc.8897G>TSubstitution - Missense
MCM5ENSG00000100297ENST00000216122p.V314Mc.940G>ASubstitution - Missense
DEPDC5ENSG00000100150ENST00000535622p.V6Vc.18C>TSubstitution - coding silent
ZNF816ENSG00000180257ENST00000357666p.H415Hc.1245T>CSubstitution - coding silent
LARGEENSG00000133424ENST00000397394p.I554Nc.1661T>ASubstitution - Missense
CCNB3ENSG00000147082ENST00000376042p.Q252Hc.756G>TSubstitution - Missense
CXorf30ENSG00000205081ENST00000378657p.V582Ac.1745T>CSubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.S3191fs*22c.9566delCDeletion - Frameshift
UBA1ENSG00000130985ENST00000377351p.F741Lc.2221T>CSubstitution - Missense
XM_498354.1p.T356Tc.1068C>ASubstitution - coding silent
PRKDCENSG00000253729ENST00000314191p.A4080Sc.12238G>TSubstitution - Missense
ETNPPLENSG00000164089ENST00000296486p.Q350fs*4c.1041_1042insAInsertion - Frameshift
ARHGAP24ENSG00000138639ENST00000395184p.G618Gc.1854T>ASubstitution - coding silent
NRG1ENSG00000157168ENST00000356819p.Q630Rc.1889A>GSubstitution - Missense
ARPP21ENSG00000172995ENST00000187397p.D209Nc.625G>ASubstitution - Missense
TGFBR2ENSG00000163513ENST00000359013p.L411Pc.1232T>CSubstitution - Missense
ZNF814ENSG00000204514ENST00000435989p.L565Pc.1694T>CSubstitution - Missense
ABCA9ENSG00000154258ENST00000340001p.Y711Hc.2131T>CSubstitution - Missense
ENST00000316893p.Q503fs*115c.1507_1508insCInsertion - Frameshift
ZNF587ENSG00000198466ENST00000339656p.?c.164-7C>TUnknown
ZNF132ENSG00000131849ENST00000254166p.S188*c.563C>GSubstitution - Nonsense
RPL28ENSG00000108107ENST00000344063p.S76Yc.227C>ASubstitution - Missense
FBXO39ENSG00000177294ENST00000321535p.S120Nc.359G>ASubstitution - Missense
MAGED1ENSG00000179222ENST00000375695p.P36Sc.106C>TSubstitution - Missense
KIAA1109ENSG00000138688ENST00000264501p.?c.10312+4G>TUnknown
CLEC4FENSG00000152672ENST00000272367p.E492Gc.1475A>GSubstitution - Missense
SEMA6AENSG00000092421ENST00000343348p.D1009Dc.3027C>TSubstitution - coding silent
ALMS1ENSG00000116127ENST00000264448p.?c.12460-3C>TUnknown
ELMOD3ENSG00000115459ENST00000409890p.A289Vc.866C>TSubstitution - Missense
NM_004389.1p.?c.2578-5T>CUnknown
SEMA4FENSG00000135622ENST00000357877p.V571Ac.1712T>CSubstitution - Missense
ENST00000333535_v68p.V113Dc.338T>ASubstitution - Missense
SCN5AENSG00000183873ENST00000333535p.P1942fs*10c.5825delCDeletion - Frameshift
ENST00000333535_v68p.T1723Nc.5168C>ASubstitution - Missense
SEC22CENSG00000093183ENST00000273156p.A106Sc.316G>TSubstitution - Missense
FNDC1ENSG00000164694ENST00000297267p.L1653Lc.4959G>ASubstitution - coding silent
EVX1ENSG00000106038ENST00000496902p.V285Mc.853G>ASubstitution - Missense
SCAF8ENSG00000213079ENST00000367178p.P677Pc.2031T>CSubstitution - coding silent
CDH6ENSG00000113361ENST00000265071p.T252Ac.754A>GSubstitution - Missense
SPATA5ENSG00000145375ENST00000274008p.D765Nc.2293G>ASubstitution - Missense
NAA15ENSG00000164134ENST00000296543p.K62fs*12c.181delADeletion - Frameshift
C4orf21ENSG00000138658ENST00000309071p.E177Ec.531G>ASubstitution - coding silent
TBC1D9BENSG00000197226ENST00000356834p.W199*c.596G>ASubstitution - Nonsense
GPIENSG00000105220ENST00000356487p.F485Sc.1454T>CSubstitution - Missense
TLE2ENSG00000065717ENST00000262953p.?c.1173+4A>GUnknown
CEP89ENSG00000121289ENST00000305768p.S83Nc.248G>ASubstitution - Missense
ZNF782ENSG00000196597ENST00000481138p.S659Fc.1976C>TSubstitution - Missense
ZBTB4ENSG00000174282ENST00000380599p.R760Rc.2280G>ASubstitution - coding silent
MRPL38ENSG00000204316ENST00000309352p.P31fs*12c.92delCDeletion - Frameshift
ERCC6L2ENSG00000182150ENST00000288985p.Q585Pc.1754A>CSubstitution - Missense
FAM214BENSG00000005238ENST00000378557p.P422Lc.1265C>TSubstitution - Missense
FAM27AENSG00000182368ENST00000377531p.R40fs*>28c.114delCDeletion - Frameshift
SOGA1ENSG00000149639ENST00000237536p.A1148Vc.3443C>TSubstitution - Missense
GNASENSG00000087460ENST00000371100p.P240fs*450c.715delCDeletion - Frameshift
ENST00000243919p.V20fs*9c.51_52insTInsertion - Frameshift
ACSS2ENSG00000131069ENST00000253382p.V288Ac.863T>CSubstitution - Missense
CBFA2T2ENSG00000078699ENST00000342704p.D238Vc.713A>TSubstitution - Missense
RBM12ENSG00000244462ENST00000374104p.L762Lc.2286G>ASubstitution - coding silent
ARHGAP40ENSG00000124143ENST00000373345p.G314Rc.940G>ASubstitution - Missense
STK3ENSG00000104375ENST00000419617p.Y396Cc.1187A>GSubstitution - Missense
TRPM3ENSG00000083067ENST00000377110p.E916*c.2746G>TSubstitution - Nonsense
ACOX2ENSG00000168306ENST00000302819p.V123Mc.367G>ASubstitution - Missense
MAGI1ENSG00000151276ENST00000402939p.R1382Mc.4145G>TSubstitution - Missense
NUGGCENSG00000189233ENST00000341513p.K453Nc.1359G>TSubstitution - Missense
ATP6V1FENSG00000128524ENST00000249289p.R107Hc.320G>ASubstitution - Missense
DOCK8ENSG00000107099ENST00000432829p.L1370Mc.4108C>ASubstitution - Missense
DTNAENSG00000134769ENST00000399121p.A448Vc.1343C>TSubstitution - Missense
RGL3ENSG00000205517ENST00000380456p.E75Gc.224A>GSubstitution - Missense
CHST9ENSG00000154080ENST00000284224p.D69Vc.206A>TSubstitution - Missense
ALDOCENSG00000109107ENST00000395321p.D18Ec.54C>GSubstitution - Missense
TMEM11ENSG00000178307ENST00000317635p.F128fs*47c.384delTDeletion - Frameshift
TNKSENSG00000173273ENST00000310430p.V666Ec.1997T>ASubstitution - Missense
NUFIP2ENSG00000108256ENST00000225388p.N158fs*21c.473delADeletion - Frameshift
SHROOM3ENSG00000138771ENST00000296043p.A1777Tc.5329G>ASubstitution - Missense
SSUH2ENSG00000125046ENST00000341795p.C47Cc.141C>TSubstitution - coding silent
NUDT21ENSG00000167005ENST00000300291p.V17fs*51c.50delTDeletion - Frameshift
ANKRD36CENSG00000174501ENST00000420871p.M816Lc.2446A>TSubstitution - Missense
CNTN3ENSG00000113805ENST00000263665p.G711Gc.2133C>TSubstitution - coding silent
U2AF1ENSG00000160201ENST00000291552p.S61Tc.181T>ASubstitution - Missense
ZNF136ENSG00000196646ENST00000343979p.S349Rc.1047T>ASubstitution - Missense
NCAM2ENSG00000154654ENST00000400546p.?c.481+7A>TUnknown
RGS12ENSG00000159788ENST00000344733p.A581fs*15c.1737delCDeletion - Frameshift
USP25ENSG00000155313ENST00000400183p.L981Lc.2943G>ASubstitution - coding silent
HTTENSG00000197386ENST00000355072p.P1305Sc.3913C>TSubstitution - Missense
LIMCH1ENSG00000064042ENST00000313860p.A278Ac.834C>ASubstitution - coding silent
NM_025134.3p.?c.7226-6A>GUnknown
SCRIBENSG00000180900ENST00000356994p.A1277Tc.3829G>ASubstitution - Missense
KIF13AENSG00000137177ENST00000378814p.N1426Nc.4278T>CSubstitution - coding silent
LRRC16AENSG00000079691ENST00000329474p.E666Ec.1998G>ASubstitution - coding silent
HIST1H2ADENSG00000196866ENST00000341023p.R36Hc.107G>ASubstitution - Missense
WEE2ENSG00000214102ENST00000397541p.Q79Rc.236A>GSubstitution - Missense
SLC17A2ENSG00000112337ENST00000360488p.?c.931-2A>GUnknown
PLAGL2ENSG00000126003ENST00000246229p.C224Cc.672T>CSubstitution - coding silent
ASXL1ENSG00000171456ENST00000375687p.G1481Sc.4441G>ASubstitution - Missense
MCM3APENSG00000160294ENST00000397708p.V1325Dc.3974T>ASubstitution - Missense
TPX2ENSG00000088325ENST00000300403p.?c.883-7T>CUnknown
TIMM22ENSG00000177370ENST00000327158p.S124Tc.370T>ASubstitution - Missense
ZC2HC1AENSG00000104427ENST00000263849p.N259Sc.776A>GSubstitution - Missense
LRRCC1ENSG00000133739ENST00000414626p.L148fs*8c.443_444insTInsertion - Frameshift
PIGNENSG00000197563ENST00000357637p.F123Fc.369T>CSubstitution - coding silent
ROCK1ENSG00000067900ENST00000399799p.D1014Vc.3041A>TSubstitution - Missense
CPLX4ENSG00000166569ENST00000299721p.K120Rc.359A>GSubstitution - Missense
LMAN1ENSG00000074695ENST00000251047p.Q455Rc.1364A>GSubstitution - Missense
TRRAPENSG00000196367ENST00000355540p.R2515Cc.7543C>TSubstitution - Missense
CDK15ENSG00000138395ENST00000374598p.M1Ic.3G>ASubstitution - Missense
PRR21ENSG00000221961ENST00000408934p.L82Ic.244C>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.S25675Tc.77023T>ASubstitution - Missense
RBM25ENSG00000119707ENST00000261973p.R397Wc.1189C>TSubstitution - Missense
HNRNPCL1ENSG00000179172ENST00000317869p.L138Mc.412C>ASubstitution - Missense
NCOR2ENSG00000196498ENST00000405201p.L1623Mc.4867C>ASubstitution - Missense
RSRC2ENSG00000111011ENST00000354654p.R287fs*18c.859_860insAInsertion - Frameshift
TMTC1ENSG00000133687ENST00000256062p.?c.1984-8C>AUnknown
YARS2ENSG00000139131ENST00000324868p.Q205*c.613C>TSubstitution - Nonsense
XM_046751.7p.R1130Wc.3388C>TSubstitution - Missense
CACNA1SENSG00000081248ENST00000362061p.L1315Lc.3943C>TSubstitution - coding silent
LRRN2ENSG00000170382ENST00000367175p.R275Wc.823C>TSubstitution - Missense
SECISBP2LENSG00000138593ENST00000261847p.L427fs*14c.1278_1279insAInsertion - Frameshift
NUAK2ENSG00000163545ENST00000367157p.?c.352+6G>AUnknown
DHX37ENSG00000150990ENST00000308736p.T658Tc.1974C>TSubstitution - coding silent
NDC1ENSG00000058804ENST00000371429p.A564Tc.1690G>ASubstitution - Missense
LRRK1ENSG00000154237ENST00000284395p.L1904Lc.5712G>ASubstitution - coding silent
ABHD12BENSG00000131969ENST00000337334p.I93Tc.278T>CSubstitution - Missense
LRR1ENSG00000165501ENST00000298288p.P125Sc.373C>TSubstitution - Missense
TM2D3ENSG00000184277ENST00000333202p.D83Nc.247G>ASubstitution - Missense
ENST00000401058p.S613Nc.1838G>ASubstitution - Missense
NIPA2ENSG00000140157ENST00000359727p.V177Ac.530T>CSubstitution - Missense
NIPA2ENSG00000140157ENST00000359727p.K33fs*18c.97_98delAADeletion - Frameshift
SSPNENSG00000123096ENST00000242729p.D85Nc.253G>ASubstitution - Missense
PKP1ENSG00000081277ENST00000263946p.L530fs*24c.1584delCDeletion - Frameshift
PKP1ENSG00000081277ENST00000367324p.L509fs*24c.1521delCDeletion - Frameshift
MROH2BENSG00000171495ENST00000399564p.?c.757-7A>TUnknown
DENND4AENSG00000174485ENST00000431932p.R1201Rc.3603G>ASubstitution - coding silent
MPP5ENSG00000072415ENST00000261681p.G293Cc.877G>TSubstitution - Missense
VWA9ENSG00000138614ENST00000567744p.V41Mc.121G>ASubstitution - Missense
RPS6KA5ENSG00000100784ENST00000261991p.F584Fc.1752C>TSubstitution - coding silent
FMN1ENSG00000248905ENST00000320930p.S512Sc.1536C>TSubstitution - coding silent
NM_014363.3p.G2738Cc.8212G>TSubstitution - Missense
NM_014363.3p.Q967Hc.2901G>TSubstitution - Missense
FAM155AENSG00000204442ENST00000375915p.G14Sc.40G>ASubstitution - Missense
LIG4ENSG00000174405ENST00000405925p.H862Qc.2586T>ASubstitution - Missense
EVI5ENSG00000067208ENST00000370331p.L528Lc.1584T>CSubstitution - coding silent
CASC5ENSG00000137812ENST00000346991p.P1743Lc.5228C>TSubstitution - Missense
EGFLAMENSG00000164318ENST00000354891p.R702Hc.2105G>ASubstitution - Missense
ESF1ENSG00000089048ENST00000202816p.L831Mc.2491T>ASubstitution - Missense
ENST00000331986p.Q105Qc.315A>GSubstitution - coding silent
DZANK1ENSG00000089091ENST00000262547p.T206Ic.617C>TSubstitution - Missense
SIRPB2ENSG00000196209ENST00000359801p.W160Lc.479G>TSubstitution - Missense
IL12RB2ENSG00000081985ENST00000262345p.?c.807+1G>AUnknown
PCSK2ENSG00000125851ENST00000262545p.A390Ac.1170A>GSubstitution - coding silent
LEPRENSG00000116678ENST00000349533p.Y607Yc.1821T>CSubstitution - coding silent
RCC1ENSG00000180198ENST00000398958p.?c.662-8G>AUnknown
REREENSG00000142599ENST00000400908p.R1310*c.3928C>TSubstitution - Nonsense
REREENSG00000142599ENST00000400908p.P680Sc.2038C>TSubstitution - Missense
IFI44LENSG00000137959ENST00000370751p.D39Vc.116A>TSubstitution - Missense
OMA1ENSG00000162600ENST00000371226p.P440Hc.1319C>ASubstitution - Missense
PMS1ENSG00000064933ENST00000441310p.E607Ec.1821A>GSubstitution - coding silent
PARD3BENSG00000116117ENST00000358768p.D1005Dc.3015T>CSubstitution - coding silent
NM_003319p.G2610Dc.7829G>ASubstitution - Missense
TTNENSG00000155657ENST00000360870p.K3513fs*1c.10536_10537insTInsertion - Frameshift
GZF1ENSG00000125812ENST00000338121p.G436Gc.1308C>ASubstitution - coding silent
NAPBENSG00000125814ENST00000377026p.D290Gc.869A>GSubstitution - Missense
TTNENSG00000155657ENST00000360870p.G4876Gc.14628A>GSubstitution - coding silent
ABCA12ENSG00000144452ENST00000272895p.L1924Lc.5772T>CSubstitution - coding silent
NDUFS1ENSG00000023228ENST00000233190p.P561Sc.1681C>TSubstitution - Missense
STAT4ENSG00000138378ENST00000358470p.K646Ec.1936A>GSubstitution - Missense
MYT1LENSG00000186487ENST00000399161p.A579Tc.1735G>ASubstitution - Missense
NRP2ENSG00000118257ENST00000360409p.S895Sc.2685G>TSubstitution - coding silent
BICD2ENSG00000185963ENST00000356884p.T376Tc.1128G>ASubstitution - coding silent
ARHGAP36ENSG00000147256ENST00000276211p.P430Lc.1289C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.K9018Kc.27054G>ASubstitution - coding silent
USP26ENSG00000134588ENST00000370832p.K574Kc.1722A>GSubstitution - coding silent
IFI16ENSG00000163565ENST00000368131p.Y5fs*15c.5_6insAInsertion - Frameshift
SU_OBSCN.1p.L6411Lc.19231C>TSubstitution - coding silent
ENST00000349637p.V5002Ic.15004G>ASubstitution - Missense
OR52M1ENSG00000197790ENST00000360213p.G101Dc.302G>ASubstitution - Missense
CNTN5ENSG00000149972ENST00000524871p.?c.2164+7G>TUnknown
ENST00000300053p.R338Hc.1013G>ASubstitution - Missense
PLIN1ENSG00000166819ENST00000300055p.?c.45+2T>CUnknown
CELA1ENSG00000139610ENST00000293636p.Q243Hc.729G>TSubstitution - Missense
HEATR1ENSG00000119285ENST00000366582p.K1675Ec.5023A>GSubstitution - Missense
EPHB2ENSG00000133216ENST00000374632p.R573Hc.1718G>ASubstitution - Missense
ENST00000366638p.R429Rc.1287G>ASubstitution - coding silent
PRKD1ENSG00000184304ENST00000331968p.S460Sc.1380C>TSubstitution - coding silent
OR5AU1ENSG00000169327ENST00000304418p.M187Vc.559A>GSubstitution - Missense
OR5A1ENSG00000172320ENST00000302030p.V276Vc.828G>TSubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.E3048Dc.9144G>TSubstitution - Missense
KNDC1ENSG00000171798ENST00000304613p.L297Pc.890T>CSubstitution - Missense
DTX4ENSG00000110042ENST00000227451p.A525Vc.1574C>TSubstitution - Missense
INPPL1ENSG00000165458ENST00000298229p.?c.3553-1G>AUnknown
PAX2ENSG00000075891ENST00000428433p.?c.410+9G>AUnknown
RGS7ENSG00000182901ENST00000366565p.A450Vc.1349C>TSubstitution - Missense
ENST00000388884p.H80Hc.240C>TSubstitution - coding silent
SEC23IPENSG00000107651ENST00000369075p.V700Ic.2098G>ASubstitution - Missense
KMOENSG00000117009ENST00000366559p.R85Sc.255A>TSubstitution - Missense
AHCTF1ENSG00000153207ENST00000391829p.E1519Kc.4555G>ASubstitution - Missense
PPFIA1ENSG00000131626ENST00000253925p.G1184Sc.3550G>ASubstitution - Missense
CLSPNENSG00000092853ENST00000318121p.I1177Fc.3529A>TSubstitution - Missense
RC3H1ENSG00000135870ENST00000258349p.L466Rc.1397T>GSubstitution - Missense
SPG20ENSG00000133104ENST00000355182p.G446Dc.1337G>ASubstitution - Missense
MEGF6ENSG00000162591ENST00000356575p.A720Vc.2159C>TSubstitution - Missense
ACTRT2ENSG00000169717ENST00000378404p.I38Ic.114C>TSubstitution - coding silent
CCDC27ENSG00000162592ENST00000294600p.L258Fc.772C>TSubstitution - Missense
STARD13ENSG00000133121ENST00000336934p.D946Dc.2838C>TSubstitution - coding silent
RAPGEF3ENSG00000079337ENST00000449771p.?c.1473+1G>AUnknown
CNTN5ENSG00000149972ENST00000528682p.V102Mc.304G>ASubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.C1838Rc.5512T>CSubstitution - Missense
ZNF365ENSG00000138311ENST00000410046p.V211Ac.632T>CSubstitution - Missense
FAUENSG00000149806ENST00000529639p.V120Mc.358G>ASubstitution - Missense
P4HA1ENSG00000122884ENST00000412021p.L153Ic.457C>ASubstitution - Missense
ABCC8ENSG00000006071ENST00000389817p.?c.291-1G>TUnknown
COPAENSG00000122218ENST00000241704p.A307Vc.920C>TSubstitution - Missense
PIK3C2AENSG00000011405ENST00000265970p.P205Tc.613C>ASubstitution - Missense
DNM3ENSG00000197959ENST00000358155p.E100Ec.300G>ASubstitution - coding silent
SPTBN5ENSG00000137877ENST00000320955p.A1092Vc.3275C>TSubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.?c.5723-5C>TUnknown
GPR161ENSG00000143147ENST00000367835p.S87Ic.260G>TSubstitution - Missense
CDAN1ENSG00000140326ENST00000356231p.?c.2008-2A>GUnknown
PCDH15ENSG00000150275ENST00000361849p.S1921Pc.5761T>CSubstitution - Missense
ENST00000417177p.Y135Yc.405C>TSubstitution - coding silent
COQ5ENSG00000110871ENST00000288532p.H53Lc.158A>TSubstitution - Missense
CITENSG00000122966ENST00000261833p.R1062Qc.3185G>ASubstitution - Missense
MYH11ENSG00000133392ENST00000396324p.R1590Wc.4768C>TSubstitution - Missense
PTPRCENSG00000081237ENST00000442510p.C398fs*2c.1186_1187insTInsertion - Frameshift
NM_004397.3p.G222*c.664G>TSubstitution - Nonsense
NM_005933.1p.K739Kc.2217A>GSubstitution - coding silent
LGR4ENSG00000205213ENST00000379214p.L273Lc.819C>TSubstitution - coding silent
MUC2ENSG00000198788ENST00000441003p.T1919Ic.5756C>TSubstitution - Missense
ZC3H12CENSG00000149289ENST00000278590p.S639Sc.1917C>TSubstitution - coding silent
ENST00000306030_v65p.D13Dc.39C>TSubstitution - coding silent
NM_004452.2p.H33Yc.97C>TSubstitution - Missense
GSPT1ENSG00000103342ENST00000434724p.L442Lc.1326G>ASubstitution - coding silent
HMCN1ENSG00000143341ENST00000271588p.Y3033Yc.9099C>TSubstitution - coding silent
CFHR5ENSG00000134389ENST00000256785p.T80Ic.239C>TSubstitution - Missense
THNSL1ENSG00000185875ENST00000376356p.R31Qc.92G>ASubstitution - Missense
KIF14ENSG00000118193ENST00000367350p.V1208Vc.3624C>ASubstitution - coding silent
SLC5A10ENSG00000154025ENST00000317977p.T473Mc.1418C>TSubstitution - Missense
ALDH3A2ENSG00000072210ENST00000176643p.F302Fc.906T>CSubstitution - coding silent
SLC39A7ENSG00000112473ENST00000444757p.?c.529+10G>TUnknown
IL31RAENSG00000164509ENST00000359040p.R161Sc.481C>ASubstitution - Missense
KIAA1731ENSG00000166004ENST00000411936p.R38Rc.114A>GSubstitution - coding silent
DMXL1ENSG00000172869ENST00000539542p.L2574Lc.7722G>ASubstitution - coding silent
ENST00000231228_v70p.E253Ec.759G>ASubstitution - coding silent
UBE2ZENSG00000159202ENST00000360943p.C254Cc.762T>CSubstitution - coding silent
ANKFY1ENSG00000185722ENST00000433651p.P422Pc.1266C>ASubstitution - coding silent
EPB41L3ENSG00000082397ENST00000542146p.D184Dc.552T>CSubstitution - coding silent
TPOENSG00000115705ENST00000337415p.L600Lc.1800G>ASubstitution - coding silent
PCDH11XENSG00000102290ENST00000361724p.N447Sc.1340A>GSubstitution - Missense
NMRK1ENSG00000106733ENST00000376811p.?c.593-1G>TUnknown
CNTFRENSG00000122756ENST00000378980p.F125Vc.373T>GSubstitution - Missense
TENM1ENSG00000009694ENST00000422452p.C563Yc.1688G>ASubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.P2865Sc.8593C>TSubstitution - Missense
AKT2ENSG00000105221ENST00000392038p.A139Vc.416C>TSubstitution - Missense
ERBB3ENSG00000065361ENST00000267101p.E928Gc.2783A>GSubstitution - Missense
TMEM196ENSG00000173452ENST00000433641p.R66Mc.197G>TSubstitution - Missense
BMP1ENSG00000168487ENST00000397816p.R393*c.1177C>TSubstitution - Nonsense
ATP2B3ENSG00000067842ENST00000263519p.A534Tc.1600G>ASubstitution - Missense
SLC22A11ENSG00000168065ENST00000301891p.R372Cc.1114C>TSubstitution - Missense
CYP4F12ENSG00000186204ENST00000324632p.T152Mc.455C>TSubstitution - Missense
TET3ENSG00000187605ENST00000409262p.V468Ic.1402G>ASubstitution - Missense
SDHAENSG00000073578ENST00000264932p.S445Sc.1335G>ASubstitution - coding silent
IP6K3ENSG00000161896ENST00000451316p.A240Vc.719C>TSubstitution - Missense
ENST00000373263p.I199Nc.596T>ASubstitution - Missense
CENPHENSG00000153044ENST00000283006p.N115fs*16c.337delADeletion - Frameshift
PNPLA7ENSG00000130653ENST00000277531p.T1005Tc.3015G>ASubstitution - coding silent
LAMB1ENSG00000091136ENST00000222399p.T1709fs*22c.5125delADeletion - Frameshift
PCDH17ENSG00000118946ENST00000377918p.A1021Tc.3061G>ASubstitution - Missense
INPP4AENSG00000040933ENST00000409540p.A622Tc.1864G>ASubstitution - Missense
KRT10ENSG00000186395ENST00000269576p.E350*c.1048G>TSubstitution - Nonsense
CACNG6ENSG00000130433ENST00000252729p.P209fs*21c.622delCDeletion - Frameshift
TRIM72ENSG00000177238ENST00000322122p.A298Ac.894G>ASubstitution - coding silent
OR5AR1ENSG00000172459ENST00000302969p.R229Hc.686G>ASubstitution - Missense
BMPR2ENSG00000204217ENST00000374580p.N583fs*44c.1742delADeletion - Frameshift
ENST00000217537p.A1140Tc.3418G>ASubstitution - Missense
DDX17ENSG00000100201ENST00000381633p.K42fs*4c.125delADeletion - Frameshift
MAP3K6ENSG00000142733ENST00000493901p.F849fs*40c.2544_2545insCInsertion - Frameshift
DNAH14ENSG00000185842ENST00000445597p.I257Lc.769A>TSubstitution - Missense
HSPG2ENSG00000142798ENST00000374695p.P1596Tc.4786C>ASubstitution - Missense
TGFB2ENSG00000092969ENST00000366930p.S269Sc.807C>TSubstitution - coding silent
CDADC1ENSG00000102543ENST00000251108p.V493Vc.1479G>ASubstitution - coding silent
HIF3AENSG00000124440ENST00000300862p.A366Tc.1096G>ASubstitution - Missense
CCDC63ENSG00000173093ENST00000308208p.M210Kc.629T>ASubstitution - Missense
ENST00000377560_v62p.?c.3628-9A>TUnknown
SCELENSG00000136155ENST00000349847p.?c.398+3A>TUnknown
ANKRD52ENSG00000139645ENST00000267116p.G952Dc.2855G>ASubstitution - Missense
AKAP11ENSG00000023516ENST00000025301p.S328fs*7c.982_983insAInsertion - Frameshift
PEAK1ENSG00000173517ENST00000312493p.P1119Hc.3356C>ASubstitution - Missense
KRT73ENSG00000186049ENST00000305748p.R384Qc.1151G>ASubstitution - Missense
ISLR2ENSG00000167178ENST00000361742p.P464Pc.1392C>ASubstitution - coding silent
CR1ENSG00000203710ENST00000400960p.K1642fs*22c.4916delGDeletion - Frameshift
SVILENSG00000197321ENST00000355867p.A1513Pc.4537G>CSubstitution - Missense
PKP3ENSG00000184363ENST00000331563p.L464fs*224c.1390_1391insCInsertion - Frameshift
SEC24CENSG00000176986ENST00000345254p.?c.172+9C>AUnknown
CYP26A1ENSG00000095596ENST00000224356p.G47fs*81c.138_139insCInsertion - Frameshift
KCNMA1ENSG00000156113ENST00000286627p.D700Dc.2100T>CSubstitution - coding silent
PPIFENSG00000108179ENST00000225174p.D179Vc.536A>TSubstitution - Missense
MYOFENSG00000138119ENST00000359263p.?c.2002-1G>AUnknown
LARP4BENSG00000107929ENST00000316157p.R707fs*>32c.2118delCDeletion - Frameshift
ENST00000446175_v65p.R274Gc.820A>GSubstitution - Missense
POLEENSG00000177084ENST00000320574p.L1171fs*6c.3504_3505insAInsertion - Frameshift
TNXBENSG00000168477ENST00000375247p.P2205Tc.6613C>ASubstitution - Missense
MRI1ENSG00000037757ENST00000040663p.S282fs*24c.839delCDeletion - Frameshift
TINAGENSG00000137251ENST00000259782p.N239Kc.717T>ASubstitution - Missense
PHF1ENSG00000112511ENST00000374516p.R519Cc.1555C>TSubstitution - Missense
AQP8ENSG00000103375ENST00000219660p.F91Lc.271T>CSubstitution - Missense
ARHGAP17ENSG00000140750ENST00000303665p.L69fs*33c.199-1_199insAUnknown
SLC27A1ENSG00000130304ENST00000442725p.S174Ac.520T>GSubstitution - Missense
USP20ENSG00000136878ENST00000372429p.E135Dc.405G>TSubstitution - Missense
KLHL6ENSG00000172578ENST00000341319p.R308Cc.922C>TSubstitution - Missense
RTP2ENSG00000198471ENST00000358241p.T180Tc.540C>ASubstitution - coding silent
CRATENSG00000095321ENST00000318080p.?c.1085+1G>AUnknown
PTRH1ENSG00000187024ENST00000419060p.P126Sc.376C>TSubstitution - Missense
NM_003829.1p.S762Gc.2284A>GSubstitution - Missense
MRPS30ENSG00000112996ENST00000507110p.A123fs*12c.365_366insCInsertion - Frameshift
KIF2AENSG00000068796ENST00000407818p.P738Lc.2213C>TSubstitution - Missense
NEIL3ENSG00000109674ENST00000264596p.Q591fs*>16c.1769_1770insTInsertion - Frameshift
HTR1AENSG00000178394ENST00000323865p.A203Dc.608C>ASubstitution - Missense
PHYKPLENSG00000175309ENST00000308158p.G405Ec.1214G>ASubstitution - Missense
MEGF9ENSG00000106780ENST00000426959p.S605Nc.1814G>ASubstitution - Missense
GSNENSG00000148180ENST00000373818p.I490Ic.1470C>ASubstitution - coding silent
AKNAENSG00000106948ENST00000307564p.R323Rc.969G>ASubstitution - coding silent
PHF20L1ENSG00000129292ENST00000395386p.?c.1579+7_1579+8insAUnknown
PARLENSG00000175193ENST00000317096p.K328Nc.984A>TSubstitution - Missense
BCL9LENSG00000186174ENST00000334801p.V1420Ic.4258G>ASubstitution - Missense
USP54ENSG00000166348ENST00000319786p.T393Ic.1178C>TSubstitution - Missense
NCOA4ENSG00000138293ENST00000374082p.G441Vc.1322G>TSubstitution - Missense
OR51B5ENSG00000242180ENST00000300773p.Y250Yc.750T>CSubstitution - coding silent
MYOFENSG00000138119ENST00000371501p.S1756Sc.5268C>ASubstitution - coding silent
PCDH11XENSG00000102290ENST00000361724p.G41Gc.123C>ASubstitution - coding silent
WDR31ENSG00000148225ENST00000374193p.V67Vc.201C>TSubstitution - coding silent
C5ENSG00000106804ENST00000223642p.Y1092Yc.3276C>TSubstitution - coding silent
POGZENSG00000143442ENST00000491586p.?c.2102+6C>TUnknown
MCAMENSG00000076706ENST00000392814p.V360Ac.1079T>CSubstitution - Missense
NRP2ENSG00000118257ENST00000540841p.S873Sc.2619G>TSubstitution - coding silent
GTF2A1ENSG00000165417ENST00000553612p.D290Yc.868G>TSubstitution - Missense
ANK2ENSG00000145362ENST00000506722p.G873Rc.2617G>ASubstitution - Missense
CPSF7ENSG00000149532ENST00000340437p.P341fs*14c.1022delCDeletion - Frameshift
ENST00000378143p.V524fs*>7c.1568_1569insAInsertion - Frameshift
NRG2ENSG00000158458ENST00000545385p.G324fs*8c.971delGDeletion - Frameshift
LAMB4ENSG00000091128ENST00000414450p.L9fs*43c.26delTDeletion - Frameshift
ENST00000204005_v70p.A1371fs*3c.4103_4104insCInsertion - Frameshift
SYNE1ENSG00000131018ENST00000341594p.L1372fs*34c.4113delGDeletion - Frameshift
PCLOENSG00000186472ENST00000423517p.F4255fs*24c.12757_12758insAInsertion - Frameshift
TTC3ENSG00000182670ENST00000540756p.N280fs*5c.839_840insAAInsertion - Frameshift
ARPP21ENSG00000172995ENST00000458225p.?c.687-3C>TUnknown
SLC26A6ENSG00000225697ENST00000383733p.Y525Hc.1573T>CSubstitution - Missense
VPS39ENSG00000166887ENST00000348544p.L39delLc.114_116delTCTDeletion - In frame
ZNF587BENSG00000269343ENST00000316462p.N126fs*32c.371delGDeletion - Frameshift
ENST00000204005_v70p.A1408Vc.4223C>TSubstitution - Missense
UNC13AENSG00000130477ENST00000252773p.?c.2187-8C>AUnknown
SMC6ENSG00000163029ENST00000381272p.S996Sc.2988A>GSubstitution - coding silent
CACNA1IENSG00000100346ENST00000400164p.L1526Lc.4578G>ASubstitution - coding silent
ATG4BENSG00000168397ENST00000405546p.I61Sc.182T>GSubstitution - Missense
SLC8A1ENSG00000183023ENST00000406785p.R6Rc.18A>CSubstitution - coding silent
EMILIN1ENSG00000138080ENST00000380320p.T667Ic.2000C>TSubstitution - Missense
DTNBENSG00000138101ENST00000288642p.E511Ec.1533A>GSubstitution - coding silent
INPP4AENSG00000040933ENST00000545415p.R846Cc.2536C>TSubstitution - Missense
MAP3K13ENSG00000073803ENST00000535426p.A148Ac.444G>ASubstitution - coding silent
CEP63ENSG00000182923ENST00000354446p.T384Nc.1151C>ASubstitution - Missense
BCRENSG00000186716ENST00000398512p.F176Lc.526T>CSubstitution - Missense
MTMR3ENSG00000100330ENST00000333027p.E138Dc.414G>TSubstitution - Missense
CLTCL1ENSG00000070371ENST00000427926p.?c.795+4C>TUnknown
SLC25A23ENSG00000125648ENST00000334510p.G244Sc.730G>ASubstitution - Missense
RHBDL1ENSG00000103269ENST00000352681p.A81Ac.243T>CSubstitution - coding silent
NOVENSG00000136999ENST00000259526p.C81Fc.242G>TSubstitution - Missense
SVEP1ENSG00000165124ENST00000401783p.E185Gc.554A>GSubstitution - Missense
FAM135AENSG00000082269ENST00000418814p.P851Lc.2552C>TSubstitution - Missense
GRIK2ENSG00000164418ENST00000369138p.?c.284-10T>GUnknown
ABCG5ENSG00000138075ENST00000260645p.G86*c.256G>TSubstitution - Nonsense
HSF5ENSG00000176160ENST00000323777p.G60Gc.180C>TSubstitution - coding silent
ENST00000335500p.Q1066fs*43c.3196delCDeletion - Frameshift
SEC24AENSG00000113615ENST00000398844p.F1049fs*6c.3142delTDeletion - Frameshift
ZNF568ENSG00000198453ENST00000333987p.C227Rc.679T>CSubstitution - Missense
PCDHGA10ENSG00000253846ENST00000398610p.G262Dc.785G>ASubstitution - Missense
USP13ENSG00000058056ENST00000263966p.I633fs*5c.1889_1890insCInsertion - Frameshift
PCDHGB3ENSG00000262209ENST00000576222p.H207Yc.619C>TSubstitution - Missense
PCDHGA6ENSG00000253731ENST00000517434p.P4Lc.11C>TSubstitution - Missense
TRPM6ENSG00000119121ENST00000360774p.A408Ac.1224G>ASubstitution - coding silent
VPS13AENSG00000197969ENST00000357409p.?c.883-2A>GUnknown
TLE4ENSG00000106829ENST00000376552p.S359Rc.1075A>CSubstitution - Missense
CDC25CENSG00000158402ENST00000323760p.T367Tc.1101C>TSubstitution - coding silent
SLFN11ENSG00000172716ENST00000394566p.L838Ic.2512C>ASubstitution - Missense
MMS22LENSG00000146263ENST00000275053p.R519fs*7c.1549_1550insAInsertion - Frameshift
SLFN12LENSG00000205045ENST00000449046p.N468Ic.1403A>TSubstitution - Missense
LCA5ENSG00000135338ENST00000392959p.N318fs*29c.953delADeletion - Frameshift
C6orf163ENSG00000203872ENST00000388923p.R159Gc.475A>GSubstitution - Missense
NF1ENSG00000196712ENST00000358273p.?c.3113+1G>AUnknown
TADA2AENSG00000108264ENST00000394395p.N120Dc.358A>GSubstitution - Missense
BCLAF1ENSG00000029363ENST00000531224p.S414Sc.1242A>GSubstitution - coding silent
TMEM200AENSG00000164484ENST00000392429p.T172Tc.516G>ASubstitution - coding silent
ZNF292ENSG00000188994ENST00000369577p.F1168fs*29c.3499delTDeletion - Frameshift
RAD51DENSG00000185379ENST00000345365p.V66Vc.198G>TSubstitution - coding silent
RNGTTENSG00000111880ENST00000369485p.N324Nc.972T>CSubstitution - coding silent
PCDHGA5ENSG00000253485ENST00000518069p.P810Pc.2430G>ASubstitution - coding silent
CETN2ENSG00000147400ENST00000370277p.K131Kc.393G>ASubstitution - coding silent
IDH3GENSG00000067829ENST00000217901p.M361Ic.1083G>ASubstitution - Missense
REPIN1ENSG00000214022ENST00000489432p.P571Pc.1713C>ASubstitution - coding silent
PLXNB3ENSG00000198753ENST00000361971p.S667Nc.2000G>ASubstitution - Missense
FAM71BENSG00000170613ENST00000302938p.S409Sc.1227T>CSubstitution - coding silent
ATP2B3ENSG00000067842ENST00000370186p.H1057Yc.3169C>TSubstitution - Missense
CHPF2ENSG00000033100ENST00000035307p.L343Lc.1029G>ASubstitution - coding silent
RIMS2ENSG00000176406ENST00000507740p.H359Hc.1077T>CSubstitution - coding silent
ZFPM2ENSG00000169946ENST00000407775p.A152Tc.454G>ASubstitution - Missense
AEBP1ENSG00000106624ENST00000223357p.?c.2037+7T>CUnknown
AKT2ENSG00000105221ENST00000392038p.A232Tc.694G>ASubstitution - Missense
ZFP36ENSG00000128016ENST00000248673p.G31Gc.93C>TSubstitution - coding silent
ZNF112ENSG00000062370ENST00000337401p.I352Fc.1054A>TSubstitution - Missense
ESYT2ENSG00000117868ENST00000251527p.V174Ic.520G>ASubstitution - Missense
GALNT13ENSG00000144278ENST00000409237p.?c.1531-4C>TUnknown
KMT2CENSG00000055609ENST00000355193p.T1465Ic.4394C>TSubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.I331Vc.991A>GSubstitution - Missense
RESTENSG00000084093ENST00000309042p.V601Ic.1801G>ASubstitution - Missense
CYP4F2ENSG00000186115ENST00000221700p.P518Tc.1552C>ASubstitution - Missense
HYDINENSG00000157423ENST00000321489p.H479Yc.1435C>TSubstitution - Missense
ARHGEF1ENSG00000076928ENST00000337665p.R291Pc.872G>CSubstitution - Missense
TNRC6AENSG00000090905ENST00000395799p.?c.142-1G>TUnknown
ACVR1ENSG00000115170ENST00000263640p.C37fs*1c.111_112delTGDeletion - Frameshift
SLC32A1ENSG00000101438ENST00000217420p.G432Rc.1294G>ASubstitution - Missense
CHD6ENSG00000124177ENST00000373233p.T2012fs*85c.6033delCDeletion - Frameshift
ZNF335ENSG00000198026ENST00000322927p.R286Qc.857G>ASubstitution - Missense
LY75ENSG00000054219ENST00000263636p.V1041Fc.3121G>TSubstitution - Missense
IRGCENSG00000124449ENST00000244314p.G61Dc.182G>ASubstitution - Missense
RBCK1ENSG00000125826ENST00000356286p.A20Tc.58G>ASubstitution - Missense
CLDN24ENSG00000185758ENST00000541814p.V55Ic.163G>ASubstitution - Missense
ICKENSG00000112144ENST00000350082p.M82Vc.244A>GSubstitution - Missense
LEMD2ENSG00000161904ENST00000293760p.E407Dc.1221G>TSubstitution - Missense
TNXBENSG00000168477ENST00000375244p.H3019Yc.9055C>TSubstitution - Missense
CDYLENSG00000153046ENST00000328908p.P59Lc.176C>TSubstitution - Missense
SEMA3EENSG00000170381ENST00000307792p.S97Sc.291T>CSubstitution - coding silent
PHKA2ENSG00000044446ENST00000379942p.L77Mc.229C>ASubstitution - Missense
HOXA1ENSG00000105991ENST00000343060p.H72_H74delHRHc.215_223delATCGCCACCDeletion - In frame
SYNE1ENSG00000131018ENST00000423061p.E4667fs*34c.13992_13993insAInsertion - Frameshift
SYNE1ENSG00000131018ENST00000265368p.S5919Pc.17755T>CSubstitution - Missense
PARP14ENSG00000173193ENST00000474629p.I773Ic.2319T>CSubstitution - coding silent
ACAD9ENSG00000177646ENST00000308982p.?c.554+7C>AUnknown
IQSEC1ENSG00000144711ENST00000429247p.A993fs*127c.2977_2981GCCAC>CCAComplex - frameshift
STK16ENSG00000115661ENST00000409638p.P162Sc.484C>TSubstitution - Missense
MYO7BENSG00000169994ENST00000428314p.L236Lc.708C>ASubstitution - coding silent
XM_051221.5p.S1397Sc.4191C>TSubstitution - coding silent
SP100ENSG00000067066ENST00000340126p.?c.108-2A>GUnknown
SERPINE2ENSG00000135919ENST00000258405p.V373Ic.1117G>ASubstitution - Missense
ENST00000272666p.S1871Rc.5613C>ASubstitution - Missense
COL6A3ENSG00000163359ENST00000295550p.P1182Lc.3545C>TSubstitution - Missense
DMDENSG00000198947ENST00000378677p.L2701Fc.8101C>TSubstitution - Missense
ELNENSG00000049540ENST00000358929p.R650Mc.1949G>TSubstitution - Missense
EPHB4ENSG00000196411ENST00000358173p.R105Cc.313C>TSubstitution - Missense
PLXNA1ENSG00000114554ENST00000393409p.I1494Tc.4481T>CSubstitution - Missense
R3HDM1ENSG00000048991ENST00000264160p.G683Dc.2048G>ASubstitution - Missense
AMOTL2ENSG00000114019ENST00000249883p.Q604fs*26c.1810delCDeletion - Frameshift
ITGALENSG00000005844ENST00000356798p.W373*c.1119G>ASubstitution - Nonsense
ENST00000331219p.T70Ac.208A>GSubstitution - Missense
DMPKENSG00000104936ENST00000291270p.R509Qc.1526G>ASubstitution - Missense
LMTK3ENSG00000142235ENST00000270238p.P1195Lc.3584C>TSubstitution - Missense
ATP2A1ENSG00000196296ENST00000357084p.R164*c.490C>TSubstitution - Nonsense
SEPHS2ENSG00000179918ENST00000500504p.L126Rc.377T>GSubstitution - Missense
PNMAL2ENSG00000204851ENST00000599531p.A147Sc.439G>TSubstitution - Missense
PTPN18ENSG00000072135ENST00000175756p.V45Mc.133G>ASubstitution - Missense
CUL9ENSG00000112659ENST00000252050p.T584Nc.1751C>ASubstitution - Missense
CALN1ENSG00000183166ENST00000329008p.Y70Cc.209A>GSubstitution - Missense
MAGEE1ENSG00000198934ENST00000361470p.Q881Qc.2643G>ASubstitution - coding silent
TROENSG00000067445ENST00000319167p.V111Ic.331G>ASubstitution - Missense
PHF8ENSG00000172943ENST00000357988p.?c.402-8G>AUnknown
NONOENSG00000147140ENST00000276079p.R293Cc.877C>TSubstitution - Missense
CER1ENSG00000147869ENST00000380911p.P107Sc.319C>TSubstitution - Missense
CCDC102BENSG00000150636ENST00000360242p.W297Lc.890G>TSubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.G919Rc.2755G>CSubstitution - Missense
NCKIPSDENSG00000213672ENST00000294129p.Y161Yc.483C>TSubstitution - coding silent
PIK3R1ENSG00000145675ENST00000336483p.K178fs*32c.529delADeletion - Frameshift
ADCY2ENSG00000078295ENST00000537121p.T507Kc.1520C>ASubstitution - Missense
SLC26A8ENSG00000112053ENST00000355574p.P454Pc.1362A>GSubstitution - coding silent
MIOXENSG00000100253ENST00000216075p.W115Cc.345G>TSubstitution - Missense
ENST00000238522p.S2781Sc.8343T>CSubstitution - coding silent
COL7A1ENSG00000114270ENST00000328333p.G1400Sc.4198G>ASubstitution - Missense
TGM4ENSG00000163810ENST00000296125p.?c.431-7G>AUnknown
NBEAL2ENSG00000160796ENST00000450053p.S2046fs*5c.6130delCDeletion - Frameshift
GGA1ENSG00000100083ENST00000343632p.F157Vc.469T>GSubstitution - Missense
XRCC6ENSG00000196419ENST00000360079p.S222Nc.665G>ASubstitution - Missense
PHF3ENSG00000118482ENST00000262043p.A1081Tc.3241G>ASubstitution - Missense
MYH9ENSG00000100345ENST00000216181p.R1838Cc.5512C>TSubstitution - Missense
L3MBTL2ENSG00000100395ENST00000216237p.V447Mc.1339G>ASubstitution - Missense
DSTENSG00000151914ENST00000370765p.N1271fs*2c.3805_3806insAInsertion - Frameshift
ENTHD1ENSG00000176177ENST00000325157p.E543Kc.1627G>ASubstitution - Missense
QRSL1ENSG00000130348ENST00000369046p.D132Yc.394G>TSubstitution - Missense
CLUL1ENSG00000079101ENST00000338387p.C325fs*7c.972_973insAInsertion - Frameshift
RTTNENSG00000176225ENST00000255674p.?c.2482-10_2488>16Unknown
RIOK2ENSG00000058729ENST00000508447p.L122Sc.365T>CSubstitution - Missense
GRK4ENSG00000125388ENST00000442472p.A27_P28insAc.81_82insGCGInsertion - In frame
OTUD4ENSG00000164164ENST00000454497p.R392Cc.1174C>TSubstitution - Missense
FBN2ENSG00000138829ENST00000508053p.?c.532+1G>AUnknown
KCNIP4ENSG00000185774ENST00000382150p.I149Kc.446T>ASubstitution - Missense
FBXW7ENSG00000109670ENST00000263981p.G411Gc.1233C>TSubstitution - coding silent
MCM9ENSG00000111877ENST00000316068p.N95Sc.284A>GSubstitution - Missense
TPX2ENSG00000088325ENST00000300403p.P416Sc.1246C>TSubstitution - Missense
TMEM239ENSG00000198326ENST00000380585p.L132Lc.394C>TSubstitution - coding silent
PLECENSG00000178209ENST00000322810p.P4416Pc.13248C>TSubstitution - coding silent
CAPN10ENSG00000142330ENST00000354082p.E233fs*52c.695delGDeletion - Frameshift
STK25ENSG00000115694ENST00000316586p.L53Lc.157C>TSubstitution - coding silent
EMILIN1ENSG00000138080ENST00000380320p.R66Wc.196C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.I11751Mc.35253A>GSubstitution - Missense
ENST00000356127p.P30116Sc.90346C>TSubstitution - Missense
HIRAENSG00000100084ENST00000263208p.S330Tc.988T>ASubstitution - Missense
HIRAENSG00000100084ENST00000263208p.K27Tc.80A>CSubstitution - Missense
ENST00000356127p.A26163Vc.78488C>TSubstitution - Missense
TUBA8ENSG00000183785ENST00000330423p.T56Sc.166A>TSubstitution - Missense
CECR1ENSG00000093072ENST00000330232p.S15Tc.44G>CSubstitution - Missense
SAMSN1ENSG00000155307ENST00000285670p.E378Kc.1132G>ASubstitution - Missense
ZNF263ENSG00000006194ENST00000219069p.R291fs*103c.867delCDeletion - Frameshift
ABRENSG00000159842ENST00000291107p.E25Kc.73G>ASubstitution - Missense
LAMA5ENSG00000130702ENST00000252999p.F566Fc.1698C>TSubstitution - coding silent
SPG7ENSG00000197912ENST00000268704p.G352fs*44c.1053_1054insCInsertion - Frameshift
ZFPM1ENSG00000179588ENST00000319555p.T60fs*79c.172delCDeletion - Frameshift
TBC1D23ENSG00000036054ENST00000344949p.?c.1973+6A>GUnknown
AOX1ENSG00000138356ENST00000374700p.C798Cc.2394C>TSubstitution - coding silent
ENST00000405167p.V266Mc.796G>ASubstitution - Missense
MTTPENSG00000138823ENST00000265517p.L870Fc.2608C>TSubstitution - Missense
TPTEENSG00000166157ENST00000298232p.D288Nc.862G>ASubstitution - Missense
CABLES2ENSG00000149679ENST00000279101p.H354fs*4c.1060delCDeletion - Frameshift
WHSC1L1ENSG00000147548ENST00000317025p.S653Sc.1959C>TSubstitution - coding silent
WRNENSG00000165392ENST00000298139p.G1429Gc.4287T>ASubstitution - coding silent
TEX15ENSG00000133863ENST00000256246p.I2265Nc.6794T>ASubstitution - Missense
TEX15ENSG00000133863ENST00000256246p.Y2021fs*8c.6060_6061insAInsertion - Frameshift
PPAPDC1BENSG00000147535ENST00000424479p.A92Sc.274G>TSubstitution - Missense
SU_EPHA6p.G385Gc.1155A>TSubstitution - coding silent
OR5K1ENSG00000232382ENST00000332650p.Y220Yc.660T>CSubstitution - coding silent
WDFY3ENSG00000163625ENST00000295888p.S2738Sc.8214A>GSubstitution - coding silent
BIRC6ENSG00000115760ENST00000421745p.I2261fs*4c.6775_6776insAInsertion - Frameshift
PPP1CBENSG00000213639ENST00000358506p.A258fs*2c.765_766insTInsertion - Frameshift
HEATR5BENSG00000008869ENST00000233099p.A408Tc.1222G>ASubstitution - Missense
LIMS1ENSG00000169756ENST00000393310p.A20Sc.58G>TSubstitution - Missense
WDR13ENSG00000101940ENST00000376729p.A441Vc.1322C>TSubstitution - Missense
NLRP5ENSG00000171487ENST00000390649p.R796Qc.2387G>ASubstitution - Missense
MAGED1ENSG00000179222ENST00000375695p.I595Tc.1784T>CSubstitution - Missense
ZNF628ENSG00000197483ENST00000391718p.A572Vc.1715C>TSubstitution - Missense
BMP15ENSG00000130385ENST00000252677p.S178Tc.532T>ASubstitution - Missense
ZNF549ENSG00000121406ENST00000240719p.K620Rc.1859A>GSubstitution - Missense
NM_016323.1p.G771fs*24c.2304_2305insTInsertion - Frameshift
CHRNA6ENSG00000147434ENST00000276410p.A66Tc.196G>ASubstitution - Missense
PLOD2ENSG00000152952ENST00000282903p.I405Fc.1213A>TSubstitution - Missense
ADD2ENSG00000075340ENST00000355733p.E551*c.1651G>TSubstitution - Nonsense
SLC7A6ENSG00000103064ENST00000219343p.S46Pc.136T>CSubstitution - Missense
IL1R2ENSG00000115590ENST00000393414p.T143Tc.429C>ASubstitution - coding silent
TRIM28ENSG00000130726ENST00000253024p.E555Qc.1663G>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.L1306fs*34c.3915delGDeletion - Frameshift
ELOVL6ENSG00000170522ENST00000394607p.W142*c.426G>ASubstitution - Nonsense
SYNE1ENSG00000131018ENST00000265368p.D2645Dc.7935C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.K2387Ec.7159A>GSubstitution - Missense
STXBP5ENSG00000164506ENST00000367481p.Q620Hc.1860G>CSubstitution - Missense
LRIT3ENSG00000183423ENST00000327908p.A39Gc.116C>GSubstitution - Missense
SYNPO2ENSG00000172403ENST00000307142p.G393Wc.1177G>TSubstitution - Missense
CAMK2DENSG00000145349ENST00000508738p.V202Dc.605T>ASubstitution - Missense
DQX1ENSG00000144045ENST00000404568p.Q187*c.559C>TSubstitution - Nonsense
CACNA2D1ENSG00000153956ENST00000356860p.K637Nc.1911G>TSubstitution - Missense
RBBP7ENSG00000102054ENST00000380087p.A293Ac.879G>ASubstitution - coding silent
ENST00000427986p.G199Gc.597G>ASubstitution - coding silent
SU_SK681p.I231Fc.691A>TSubstitution - Missense
POLR1BENSG00000125630ENST00000263331p.I785fs*2c.2347_2348insAInsertion - Frameshift
FRMPD1ENSG00000070601ENST00000377765p.M435Ic.1305G>ASubstitution - Missense
CADPS2ENSG00000081803ENST00000449022p.V1193fs*3c.3575_3576insAInsertion - Frameshift
MCM8ENSG00000125885ENST00000265187p.S731Ic.2192G>TSubstitution - Missense
ENSG00000179253ENST00000317652p.S31Lc.92C>TSubstitution - Missense
TAF4ENSG00000130699ENST00000252996p.P1023Lc.3068C>TSubstitution - Missense
CBFA2T2ENSG00000078699ENST00000375279p.D247Vc.740A>TSubstitution - Missense
TSHZ2ENSG00000182463ENST00000371497p.K302Tc.905A>CSubstitution - Missense
PRR12ENSG00000126464ENST00000418929p.Q2017*c.6049C>TSubstitution - Nonsense
ZNF507ENSG00000168813ENST00000355898p.A405Ac.1215T>CSubstitution - coding silent
RUVBL2ENSG00000183207ENST00000221413p.A217Tc.649G>ASubstitution - Missense
CEACAM18ENSG00000213822ENST00000451626p.M342Tc.1025T>CSubstitution - Missense
BMP1ENSG00000168487ENST00000306385p.R393*c.1177C>TSubstitution - Nonsense
RBM12BENSG00000183808ENST00000399300p.P606Hc.1817C>ASubstitution - Missense
MAGI1ENSG00000151276ENST00000402939p.Q670Rc.2009A>GSubstitution - Missense
DNAJB5ENSG00000137094ENST00000312316p.N16Nc.48C>TSubstitution - coding silent
ENST00000377290p.A473Tc.1417G>ASubstitution - Missense
KCNV2ENSG00000168263ENST00000382082p.T424Nc.1271C>ASubstitution - Missense
EXOC4ENSG00000131558ENST00000253861p.A430fs*37c.1281_1282insTInsertion - Frameshift
SCINENSG00000006747ENST00000297029p.E399Dc.1197G>TSubstitution - Missense
C9orf24ENSG00000164972ENST00000297623p.H80Hc.240C>TSubstitution - coding silent
CRYBA1ENSG00000108255ENST00000225387p.?c.32-5T>CUnknown
NUFIP2ENSG00000108256ENST00000225388p.A62Tc.184G>ASubstitution - Missense
SEBOX,VTNENSG00000109072ENST00000431468p.H75Hc.225T>CSubstitution - coding silent
SLC18A1ENSG00000036565ENST00000276373p.E515fs*>11c.1543delGDeletion - Frameshift
LGI3ENSG00000168481ENST00000306317p.P152Sc.454C>TSubstitution - Missense
HMBOX1ENSG00000147421ENST00000444075p.H404Hc.1212T>CSubstitution - coding silent
TRPM3ENSG00000083067ENST00000377106p.E788*c.2362G>TSubstitution - Nonsense
TRPM3ENSG00000083067ENST00000377105p.E775*c.2323G>TSubstitution - Nonsense
ADAM28ENSG00000042980ENST00000265769p.K481Kc.1443A>GSubstitution - coding silent
ZNF397ENSG00000186812ENST00000330501p.K451Nc.1353A>CSubstitution - Missense
FBXW9ENSG00000132004ENST00000380339p.P309fs*6c.916_917insGInsertion - Frameshift
CDH2ENSG00000170558ENST00000269141p.L856Lc.2566T>CSubstitution - coding silent
TYK2ENSG00000105397ENST00000525621p.F109Fc.327C>TSubstitution - coding silent
ZNF709ENSG00000242852ENST00000397732p.G370Ec.1109G>ASubstitution - Missense
DSC3ENSG00000134762ENST00000434452p.G699Sc.2095G>ASubstitution - Missense
ASXL3ENSG00000141431ENST00000269197p.S917Sc.2751A>GSubstitution - coding silent
ASXL3ENSG00000141431ENST00000269197p.Y1338Nc.4012T>ASubstitution - Missense
BPTFENSG00000171634ENST00000335221p.E328Vc.983A>TSubstitution - Missense
PITPNM3ENSG00000091622ENST00000262483p.Y557Hc.1669T>CSubstitution - Missense
SHROOM3ENSG00000138771ENST00000296043p.K707Rc.2120A>GSubstitution - Missense
VGLL3ENSG00000206538ENST00000398399p.Q34Qc.102G>ASubstitution - coding silent
SCARB2ENSG00000138760ENST00000264896p.?c.1240-1G>AUnknown
MRPL45ENSG00000174100ENST00000312513p.P272fs*9c.811delCDeletion - Frameshift
ABCG1ENSG00000160179ENST00000398457p.T402Ac.1204A>GSubstitution - Missense
TRAPPC10ENSG00000160218ENST00000291574p.?c.1039-3C>TUnknown
C2CD2ENSG00000157617ENST00000380486p.V692Vc.2076G>TSubstitution - coding silent
ENST00000273600p.?c.2107-8C>TUnknown
HIST1H4FENSG00000198327ENST00000377745p.R68Wc.202C>TSubstitution - Missense
HIST1H2BHENSG00000197459ENST00000356350p.R30Cc.88C>TSubstitution - Missense
WDR27ENSG00000184465ENST00000333572p.?c.2101+6C>AUnknown
SCAF4ENSG00000156304ENST00000286835p.S623Sc.1869T>CSubstitution - coding silent
PTTG2ENSG00000250254ENST00000504686p.S142Cc.424A>TSubstitution - Missense
TIAM1ENSG00000156299ENST00000286827p.A1389Vc.4166C>TSubstitution - Missense
HTTENSG00000197386ENST00000355072p.D148Dc.444C>TSubstitution - coding silent
ROBO1ENSG00000169855ENST00000495273p.P1467Lc.4400C>TSubstitution - Missense
CASD1ENSG00000127995ENST00000297273p.G610Ec.1829G>ASubstitution - Missense
SGCEENSG00000127990ENST00000428696p.P4Sc.10C>TSubstitution - Missense
C7orf63ENSG00000105792ENST00000316089p.R676Rc.2028T>CSubstitution - coding silent
NCOA2ENSG00000140396ENST00000452400p.N928Dc.2782A>GSubstitution - Missense
SULF1ENSG00000137573ENST00000260128p.M830Ic.2490G>TSubstitution - Missense
ZNF517ENSG00000197363ENST00000359971p.L383Pc.1148T>CSubstitution - Missense
ABHD12ENSG00000100997ENST00000376542p.I84Vc.250A>GSubstitution - Missense
PCNTENSG00000160299ENST00000359568p.S2183Tc.6547T>ASubstitution - Missense
HM13ENSG00000101294ENST00000398174p.T226Ac.676A>GSubstitution - Missense
BEST3ENSG00000127325ENST00000330891p.L424Lc.1270T>CSubstitution - coding silent
PADI1ENSG00000142623ENST00000375471p.R348Hc.1043G>ASubstitution - Missense
RFWD2ENSG00000143207ENST00000367669p.?c.1142-8T>CUnknown
NXPE1ENSG00000095110ENST00000424269p.P404Pc.1212C>TSubstitution - coding silent
BRINP2ENSG00000198797ENST00000361539p.F638Lc.1914C>ASubstitution - Missense
ADAM10ENSG00000137845ENST00000260408p.I155Vc.463A>GSubstitution - Missense
C11orf82ENSG00000165490ENST00000430323p.A324Vc.971C>TSubstitution - Missense
DYX1C1ENSG00000256061ENST00000321149p.I195fs*4c.575_576insAInsertion - Frameshift
TUBENSG00000166402ENST00000305253p.A424Vc.1271C>TSubstitution - Missense
RNF111ENSG00000157450ENST00000434298p.V860Ic.2578G>ASubstitution - Missense
NAV1ENSG00000134369ENST00000367296p.T616Tc.1848A>GSubstitution - coding silent
MAPK6ENSG00000069956ENST00000261845p.A129Tc.385G>ASubstitution - Missense
NM_016155.3p.R144Rc.432G>ASubstitution - coding silent
LRRC38ENSG00000162494ENST00000376085p.S153Sc.459G>ASubstitution - coding silent
ARL6IP4ENSG00000182196ENST00000315580p.?c.956+1G>AUnknown
ENST00000298047_v61p.R4233Cc.12697C>TSubstitution - Missense
PRPF39ENSG00000185246ENST00000355765p.P667fs*>3c.1996delCDeletion - Frameshift
NINENSG00000100503ENST00000245441p.E1308Ec.3924A>GSubstitution - coding silent
POMGNT1ENSG00000085998ENST00000371992p.A159Vc.476C>TSubstitution - Missense
SPATA5L1ENSG00000171763ENST00000305560p.P507fs*9c.1516delCDeletion - Frameshift
GBAENSG00000177628ENST00000368373p.P68fs*23c.203delCDeletion - Frameshift
ASH1LENSG00000116539ENST00000392403p.Y1475Hc.4423T>CSubstitution - Missense
TM7SF3ENSG00000064115ENST00000343028p.L399Lc.1197A>GSubstitution - coding silent
SPEF2ENSG00000152582ENST00000356031p.P1320Sc.3958C>TSubstitution - Missense
VPS13CENSG00000129003ENST00000261517p.V1353Dc.4058T>ASubstitution - Missense
CATSPERBENSG00000133962ENST00000256343p.G584Rc.1750G>ASubstitution - Missense
DDX24ENSG00000089737ENST00000330836p.S668Sc.2004G>ASubstitution - coding silent
KIAA0586ENSG00000100578ENST00000261244p.?c.1657-10G>AUnknown
RALGAPA1ENSG00000174373ENST00000307138p.N1938fs*22c.5813_5814insAInsertion - Frameshift
GEMIN2ENSG00000092208ENST00000308317p.W14Rc.40T>CSubstitution - Missense
AHDC1ENSG00000126705ENST00000247087p.S979Sc.2937C>TSubstitution - coding silent
RABGGTBENSG00000137955ENST00000319942p.L215Ic.643C>ASubstitution - Missense
SPATA13ENSG00000182957ENST00000382095p.P387Pc.1161G>ASubstitution - coding silent
FMN1ENSG00000248905ENST00000334528p.?c.1375-8T>CUnknown
TLE3ENSG00000140332ENST00000558939p.V142fs*42c.416_417insCInsertion - Frameshift
CASC5ENSG00000137812ENST00000346991p.A1356fs*9c.4065_4066insAInsertion - Frameshift
NIPBLENSG00000164190ENST00000282516p.R868*c.2602C>TSubstitution - Nonsense
MEIS2ENSG00000134138ENST00000424352p.G111Rc.331G>ASubstitution - Missense
SNPHENSG00000101298ENST00000381867p.E418Dc.1254G>TSubstitution - Missense
EME1ENSG00000154920ENST00000338165p.S182Nc.545G>ASubstitution - Missense
TMEM74BENSG00000125895ENST00000381894p.G235fs*>22c.704delGDeletion - Frameshift
KISS1RENSG00000116014ENST00000234371p.Q332*c.994C>TSubstitution - Nonsense
RCC1ENSG00000180198ENST00000373831p.?c.755-8G>AUnknown
PCSK2ENSG00000125851ENST00000262545p.R465Kc.1394G>ASubstitution - Missense
ENST00000344648p.S360Sc.1080A>TSubstitution - coding silent
MYT1LENSG00000186487ENST00000399161p.R362Qc.1085G>ASubstitution - Missense
RP1ENSG00000104237ENST00000220676p.E2148Kc.6442G>ASubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.L1061fs*7c.3176_3177insTInsertion - Frameshift
ZNF385BENSG00000144331ENST00000410066p.V427Mc.1279G>ASubstitution - Missense
SNAI2ENSG00000019549ENST00000020945p.H99Hc.297C>TSubstitution - coding silent
WDR18ENSG00000065268ENST00000251289p.A321Vc.962C>TSubstitution - Missense
RBMXL3ENSG00000175718ENST00000424776p.G802fs*172c.2401delGDeletion - Frameshift
RBMXL3ENSG00000175718ENST00000424776p.S956fs*18c.2862delCDeletion - Frameshift
DENND1CENSG00000205744ENST00000381480p.F61Yc.182T>ASubstitution - Missense
ARHGAP36ENSG00000147256ENST00000276211p.L86Mc.256C>ASubstitution - Missense
MISPENSG00000099812ENST00000215582p.T287fs*45c.855delGDeletion - Frameshift
FN1ENSG00000115414ENST00000354785p.I1384Tc.4151T>CSubstitution - Missense
FRMD7ENSG00000165694ENST00000298542p.?c.1050+5G>TUnknown
XM_042978.4p.L1854Lc.5562A>GSubstitution - coding silent
FBXW10ENSG00000171931ENST00000395667p.C255Cc.765C>TSubstitution - coding silent
NM_015691.2p.S132Tc.394T>ASubstitution - Missense
RPH3ALENSG00000181031ENST00000331302p.A50Ac.150G>ASubstitution - coding silent
SLC5A10ENSG00000154025ENST00000395647p.H330Pc.989A>CSubstitution - Missense
ENST00000429478p.A915Sc.2743G>TSubstitution - Missense
PIK3C2GENSG00000139144ENST00000433979p.N801fs*2c.2398_2399insAInsertion - Frameshift
DDB1ENSG00000167986ENST00000301764p.G320Gc.960T>CSubstitution - coding silent
A2MENSG00000175899ENST00000318602p.G212Sc.634G>ASubstitution - Missense
CDC42BPBENSG00000198752ENST00000361246p.D126Dc.378T>CSubstitution - coding silent
OR5AU1ENSG00000169327ENST00000304418p.V335Vc.1005G>ASubstitution - coding silent
MTA1ENSG00000182979ENST00000331320p.S639fs*18c.1906_1907insGInsertion - Frameshift
PLCH2ENSG00000149527ENST00000378486p.Q268Hc.804G>TSubstitution - Missense
RBM20ENSG00000203867ENST00000369519p.Q598Rc.1793A>GSubstitution - Missense
ENST00000336486p.R241Qc.722G>ASubstitution - Missense
FAM178AENSG00000119906ENST00000370271p.P557fs*37c.1666delCDeletion - Frameshift
PRRC2CENSG00000117523ENST00000392078p.D1104Vc.3311A>TSubstitution - Missense
KIAA1522ENSG00000162522ENST00000401073p.E190Ec.570G>ASubstitution - coding silent
PDS5BENSG00000083642ENST00000315596p.T1220fs*14c.3651_3652insAInsertion - Frameshift
MUC19ENSG00000205592ENST00000425730p.S1440Nc.4319G>ASubstitution - Missense
AKAP3ENSG00000111254ENST00000228850p.R545Rc.1633A>CSubstitution - coding silent
CFL1ENSG00000172757ENST00000308162p.L111Rc.332T>GSubstitution - Missense
ENST00000398860p.R533Rc.1599C>TSubstitution - coding silent
PCBD1ENSG00000166228ENST00000299299p.?c.4-10C>AUnknown
NRXN2ENSG00000110076ENST00000301894p.G452Wc.1354G>TSubstitution - Missense
UNC5BENSG00000107731ENST00000335350p.V388Mc.1162G>ASubstitution - Missense
SLC22A24ENSG00000197658ENST00000417740p.D257Dc.771C>TSubstitution - coding silent
RPS6KA4ENSG00000162302ENST00000334205p.S396Nc.1187G>ASubstitution - Missense
CNGA4ENSG00000132259ENST00000379936p.V110Ic.328G>ASubstitution - Missense
PIGMENSG00000143315ENST00000368090p.L133Lc.399T>CSubstitution - coding silent
SPENENSG00000065526ENST00000375759p.L1697Lc.5089C>TSubstitution - coding silent
NCR3LG1ENSG00000188211ENST00000338965p.G133fs*22c.396delGDeletion - Frameshift
NOS1ENSG00000089250ENST00000317775p.E824fs*7c.2470delGDeletion - Frameshift
B3GALT6ENSG00000176022ENST00000379198p.R197fs*>134c.588_589insGInsertion - Frameshift
LEPRE1ENSG00000117385ENST00000296388p.V516Vc.1548C>TSubstitution - coding silent
SETD1BENSG00000139718ENST00000542440p.G1578Ac.4733G>CSubstitution - Missense
BCL2L14ENSG00000121380ENST00000266434p.M1Ic.3G>ASubstitution - Missense
SLC2A1ENSG00000117394ENST00000415851p.R134Ic.401G>TSubstitution - Missense
ZNF106ENSG00000103994ENST00000263805p.E62Kc.184G>ASubstitution - Missense
MAPKBP1ENSG00000137802ENST00000457542p.N421Nc.1263C>TSubstitution - coding silent
JMJD7-PLA2G4BENSG00000168970ENST00000382448p.S627Sc.1881C>TSubstitution - coding silent
MAP1AENSG00000166963ENST00000300231p.G2097Gc.6291C>TSubstitution - coding silent
PCDH15ENSG00000150275ENST00000361849p.N1083Nc.3249T>CSubstitution - coding silent
ENST00000373940p.D50Dc.150C>TSubstitution - coding silent
TXNDC11ENSG00000153066ENST00000356957p.C722*c.2166T>ASubstitution - Nonsense
BATFENSG00000156127ENST00000286639p.A110Vc.329C>TSubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.L1342Ic.4024C>ASubstitution - Missense
SZT2ENSG00000198198ENST00000562955p.A1963Vc.5888C>TSubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.?c.8259-4A>TUnknown
ZFYVE1ENSG00000165861ENST00000556143p.N112fs*1c.332_333insGInsertion - Frameshift
PTCHD3ENSG00000182077ENST00000438700p.T579Ac.1735A>GSubstitution - Missense
XYLT1ENSG00000103489ENST00000261381p.P625fs*20c.1874delCDeletion - Frameshift
PTCHD3ENSG00000182077ENST00000438700p.L123Lc.367C>TSubstitution - coding silent
IMMP1LENSG00000148950ENST00000278200p.I50Nc.149T>ASubstitution - Missense
PDZD3ENSG00000172367ENST00000531114p.P58Sc.172C>TSubstitution - Missense
CATENSG00000121691ENST00000241052p.P374Sc.1120C>TSubstitution - Missense
CCDC73ENSG00000186714ENST00000335185p.E251Dc.753A>TSubstitution - Missense
QSER1ENSG00000060749ENST00000399302p.M1131fs*44c.3391_3392insAInsertion - Frameshift
HYOU1ENSG00000149428ENST00000404233p.K106fs*8c.315delGDeletion - Frameshift
FBXO3ENSG00000110429ENST00000265651p.Q325Qc.975G>ASubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.S1787Lc.5360C>TSubstitution - Missense
TNNT3ENSG00000130595ENST00000278317p.A111Tc.331G>ASubstitution - Missense
FAM20BENSG00000116199ENST00000263733p.N27Sc.80A>GSubstitution - Missense
DENND2DENSG00000162777ENST00000357640p.Q51fs*24c.150delGDeletion - Frameshift
CAPZBENSG00000077549ENST00000401084p.K269Nc.807G>TSubstitution - Missense
VAV3ENSG00000134215ENST00000415432p.H73Hc.219C>TSubstitution - coding silent
GSTM4ENSG00000168765ENST00000369833p.?c.137-7G>AUnknown
PRTFDC1ENSG00000099256ENST00000320152p.L89Lc.267T>CSubstitution - coding silent
SLC10A1ENSG00000100652ENST00000216540p.F244fs*33c.729_730delCTDeletion - Frameshift
NAALAD2ENSG00000077616ENST00000534061p.N168Ic.503A>TSubstitution - Missense
PBRM1ENSG00000163939ENST00000356770p.I279fs*4c.835delADeletion - Frameshift
NEBENSG00000183091ENST00000427231p.R7684Hc.23051G>ASubstitution - Missense
MAP3K6ENSG00000142733ENST00000374040p.F841fs*40c.2520_2521insCInsertion - Frameshift
CARFENSG00000138380ENST00000320443p.V300fs*55c.891delADeletion - Frameshift
ZNF638ENSG00000075292ENST00000264447p.G1305fs*2c.3904_3905insAInsertion - Frameshift
ZNF793ENSG00000188227ENST00000445217p.C288fs*28c.854_855insTInsertion - Frameshift
LRP2ENSG00000081479ENST00000263816p.P4380fs*46c.13139delCDeletion - Frameshift
HIF3AENSG00000124440ENST00000420102p.A317Tc.949G>ASubstitution - Missense
PCDH17ENSG00000118946ENST00000377918p.A129Ec.386C>ASubstitution - Missense
NAA25ENSG00000111300ENST00000261745p.Y200Fc.599A>TSubstitution - Missense
NM_015057.1p.L1403Hc.4208T>ASubstitution - Missense
NM_015057.1p.D2869Ec.8607T>ASubstitution - Missense
MYL2ENSG00000111245ENST00000228841p.P144fs*3c.431delCDeletion - Frameshift
SUOXENSG00000139531ENST00000394109p.W137Cc.411G>TSubstitution - Missense
ISLR2ENSG00000167178ENST00000361742p.K402Nc.1206G>TSubstitution - Missense
KIF21BENSG00000116852ENST00000332129p.I445Mc.1335C>GSubstitution - Missense
AMOTENSG00000126016ENST00000304758p.M84Tc.251T>CSubstitution - Missense
IRF6ENSG00000117595ENST00000367021p.V71Mc.211G>ASubstitution - Missense
ZFAND4ENSG00000172671ENST00000344646p.V629Ic.1885G>ASubstitution - Missense
EXTL2ENSG00000162694ENST00000370113p.N129Nc.387C>TSubstitution - coding silent
EXTL2ENSG00000162694ENST00000450240p.S50Ic.149G>TSubstitution - Missense
HSPG2ENSG00000142798ENST00000374695p.P323fs*4c.959_960insCInsertion - Frameshift
ZEB1ENSG00000148516ENST00000320985p.Q388Hc.1164G>TSubstitution - Missense
NUAK1ENSG00000074590ENST00000261402p.P221Hc.662C>ASubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.A1674Vc.5021C>TSubstitution - Missense
BLNKENSG00000095585ENST00000224337p.?c.934+7A>TUnknown
EDC3ENSG00000179151ENST00000315127p.S283Sc.849C>ASubstitution - coding silent
MYOFENSG00000138119ENST00000359263p.D1262fs*4c.3784delGDeletion - Frameshift
ZSWIM8ENSG00000214655ENST00000398706p.E990Ec.2970G>ASubstitution - coding silent
ITIH2ENSG00000151655ENST00000358415p.S92Sc.276C>TSubstitution - coding silent
PMLENSG00000140464ENST00000435786p.A271Tc.811G>ASubstitution - Missense
LRRC63ENSG00000173988ENST00000446175p.R274Gc.820A>GSubstitution - Missense
FAM194BENSG00000165837ENST00000298738p.G102Vc.305G>TSubstitution - Missense
ITGA7ENSG00000135424ENST00000553804p.G981Gc.2943C>ASubstitution - coding silent
PEAK1ENSG00000173517ENST00000312493p.T279Ac.835A>GSubstitution - Missense
THSD4ENSG00000187720ENST00000355327p.S818Sc.2454G>ASubstitution - coding silent
KRT73ENSG00000186049ENST00000305748p.G53fs*65c.158delGDeletion - Frameshift
IFFO1ENSG00000010295ENST00000336604p.A283Tc.847G>ASubstitution - Missense
OR52M1ENSG00000197790ENST00000360213p.V126Vc.378G>ASubstitution - coding silent
CCDC15ENSG00000149548ENST00000344762p.L16Lc.48G>ASubstitution - coding silent
NR1H3ENSG00000025434ENST00000441012p.A25Tc.73G>ASubstitution - Missense
ROBO3ENSG00000154134ENST00000397801p.?c.3533+1G>AUnknown
MUC5BENSG00000117983ENST00000529681p.S2205fs*29c.6607delCDeletion - Frameshift
PHF21AENSG00000135365ENST00000323180p.A607fs*22c.1810_1811insCInsertion - Frameshift
TECTAENSG00000109927ENST00000392793p.T544Ic.1631C>TSubstitution - Missense
GALNT9ENSG00000182870ENST00000328957p.V26Ac.77T>CSubstitution - Missense
ARID4BENSG00000054267ENST00000264183p.S1298Sc.3894A>GSubstitution - coding silent
KCNA1ENSG00000111262ENST00000382545p.N477Nc.1431T>CSubstitution - coding silent
CAPN9ENSG00000135773ENST00000354537p.F248Vc.742T>GSubstitution - Missense
SCN8AENSG00000196876ENST00000354534p.L1379Pc.4136T>CSubstitution - Missense
POLEENSG00000177084ENST00000320574p.L1171fs*6c.3504_3505insAInsertion - Frameshift
STRAPENSG00000023734ENST00000419869p.T201Tc.603T>GSubstitution - coding silent
ZNF84ENSG00000198040ENST00000392319p.F664Lc.1990T>CSubstitution - Missense
PPFIA2ENSG00000139220ENST00000549396p.Q848*c.2542C>TSubstitution - Nonsense
ARHGEF25ENSG00000240771ENST00000286494p.L128Lc.384G>ASubstitution - coding silent
MYH7ENSG00000092054ENST00000355349p.Q1471*c.4411C>TSubstitution - Nonsense
IL16ENSG00000172349ENST00000302987p.P629Lc.1886C>TSubstitution - Missense
DGAT2ENSG00000062282ENST00000228027p.?c.1012+5G>AUnknown
C10orf120ENSG00000183559ENST00000329446p.C255fs*8c.755_756insAInsertion - Frameshift
HOMER2ENSG00000103942ENST00000304231p.I248Nc.743T>ASubstitution - Missense
NM_172217.1p.W470Rc.1408T>CSubstitution - Missense
CHST15ENSG00000182022ENST00000346248p.R162Mc.485G>TSubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.Q2727*c.8179C>TSubstitution - Nonsense
ENST00000234505p.F30Lc.90C>ASubstitution - Missense
ALKBH3ENSG00000166199ENST00000378840p.E2Dc.6G>TSubstitution - Missense
WNT3AENSG00000154342ENST00000366753p.G154Gc.462C>TSubstitution - coding silent
COL16A1ENSG00000084636ENST00000271069p.T698Tc.2094A>GSubstitution - coding silent
MACF1ENSG00000127603ENST00000317713p.?c.6753-4A>TUnknown
ENST00000294635_v70p.T252Tc.756C>TSubstitution - coding silent
KIAA1107ENSG00000069712ENST00000409154p.P574Hc.1721C>ASubstitution - Missense
STK40ENSG00000196182ENST00000373130p.C57Cc.171T>CSubstitution - coding silent
CHD1LENSG00000131778ENST00000369258p.E228*c.682G>TSubstitution - Nonsense
ATP12AENSG00000075673ENST00000218548p.?c.1286-5T>CUnknown
ATXN2LENSG00000168488ENST00000340394p.P715Sc.2143C>TSubstitution - Missense
CHRNA7ENSG00000175344ENST00000454250p.V126Mc.376G>ASubstitution - Missense
GRM7ENSG00000196277ENST00000357716p.T796Mc.2387C>TSubstitution - Missense
KIAA1109ENSG00000138688ENST00000455637p.W196Rc.586T>CSubstitution - Missense
RAI1ENSG00000108557ENST00000261641p.V1333Ac.3998T>CSubstitution - Missense
GRM8ENSG00000179603ENST00000358373p.H720fs*5c.2158_2159insCInsertion - Frameshift
KLC1ENSG00000126214ENST00000334553p.K503fs*39c.1505_1508delACAADeletion - Frameshift
ANKRD26ENSG00000107890ENST00000445828p.Y43fs*2c.124_125insAInsertion - Frameshift
ENST00000298953_v70p.R120fs*17c.352_353insCInsertion - Frameshift
GRB14ENSG00000115290ENST00000543549p.F193fs*40c.578delTDeletion - Frameshift
WIPF1ENSG00000115935ENST00000409891p.P430fs*>64c.1289delCDeletion - Frameshift
NISCHENSG00000010322ENST00000488380p.C484fs*25c.1444_1445insCInsertion - Frameshift
CLASP2ENSG00000163539ENST00000480013p.R394Rc.1182C>TSubstitution - coding silent
CEP89ENSG00000121289ENST00000590597p.S83Nc.248G>ASubstitution - Missense
ENST00000263281_v70p.M67Ic.201G>ASubstitution - Missense
ARHGEF4ENSG00000136002ENST00000355771p.T606Ic.1817C>TSubstitution - Missense
MAPRE2ENSG00000166974ENST00000588910p.Q145Hc.435G>TSubstitution - Missense
LCLAT1ENSG00000172954ENST00000319406p.M99Ic.297G>ASubstitution - Missense
ATG4BENSG00000168397ENST00000474739p.L17Vc.49T>GSubstitution - Missense
ENST00000421660p.P520Hc.1559C>ASubstitution - Missense
ZBTB45ENSG00000119574ENST00000594051p.R206*c.616C>TSubstitution - Nonsense
MED16ENSG00000175221ENST00000312090p.S532Sc.1596G>ASubstitution - coding silent
VPS8ENSG00000156931ENST00000287546p.?c.2631+9T>CUnknown
MPP2ENSG00000108852ENST00000461854p.V490Ac.1469T>CSubstitution - Missense
KIAA1731ENSG00000166004ENST00000411936p.T2407Ac.7219A>GSubstitution - Missense
PTPRMENSG00000173482ENST00000400060p.F921Fc.2763C>TSubstitution - coding silent
KDM6AENSG00000147050ENST00000382899p.P945Pc.2835A>GSubstitution - coding silent
C8orf34ENSG00000165084ENST00000523686p.I38Tc.113T>CSubstitution - Missense
MPDZENSG00000107186ENST00000319217p.G546Gc.1638A>GSubstitution - coding silent
KIAA0368ENSG00000136813ENST00000338205p.N1671Ic.5012A>TSubstitution - Missense
WWC3ENSG00000047644ENST00000380861p.L922Pc.2765T>CSubstitution - Missense
MAGEB16ENSG00000189023ENST00000399992p.L281Ic.841C>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000449981p.G1142Rc.3424G>ASubstitution - Missense
MAST4ENSG00000069020ENST00000403666p.R856*c.2566C>TSubstitution - Nonsense
DGKIENSG00000157680ENST00000424189p.V249Ic.745G>ASubstitution - Missense
SORCS2ENSG00000184985ENST00000507866p.?c.953-10T>AUnknown
PPAPDC3ENSG00000160539ENST00000372261p.A104Ac.312G>ASubstitution - coding silent
SNCAIPENSG00000064692ENST00000261368p.K689Rc.2066A>GSubstitution - Missense
SHROOM2ENSG00000146950ENST00000380913p.R1006Lc.3017G>TSubstitution - Missense
PEAR1ENSG00000187800ENST00000338302p.R956fs*30c.2860delCDeletion - Frameshift
MMP17ENSG00000198598ENST00000360564p.S168Sc.504C>TSubstitution - coding silent
ENST00000319379p.L2521Fc.7563A>TSubstitution - Missense
INSRRENSG00000027644ENST00000368195p.L920fs*37c.2757delGDeletion - Frameshift
TP53ENSG00000141510ENST00000269305p.P47Pc.141G>ASubstitution - coding silent
LEPREL1ENSG00000090530ENST00000319332p.R640Cc.1918C>TSubstitution - Missense
ENST00000539430p.H657Hc.1971C>TSubstitution - coding silent
PTPRZ1ENSG00000106278ENST00000393386p.G2124Dc.6371G>ASubstitution - Missense
ZFP37ENSG00000136866ENST00000374227p.N161fs*24c.482delADeletion - Frameshift
WDR87ENSG00000171804ENST00000303868p.R867Qc.2600G>ASubstitution - Missense
LCKENSG00000182866ENST00000336890p.E467Dc.1401G>TSubstitution - Missense
RTL1ENSG00000254656ENST00000534062p.T36Mc.107C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.R11573Hc.34718G>ASubstitution - Missense
ANKRD13BENSG00000198720ENST00000394859p.R49Qc.146G>ASubstitution - Missense
ITGB4ENSG00000132470ENST00000200181p.R554*c.1660C>TSubstitution - Nonsense
PCDHGA5ENSG00000253485ENST00000518069p.D216Yc.646G>TSubstitution - Missense
PCDHGB1ENSG00000254221ENST00000523390p.P806Pc.2418G>ASubstitution - coding silent
PCDHGB3ENSG00000262209ENST00000576222p.P808Pc.2424G>ASubstitution - coding silent
KRTDAPENSG00000188508ENST00000338897p.A98Ac.294C>ASubstitution - coding silent
UPP1ENSG00000183696ENST00000331803p.A74Tc.220G>ASubstitution - Missense
ENST00000285279_v68p.V130Ic.388G>ASubstitution - Missense
ZSCAN21ENSG00000166529ENST00000292450p.T80Nc.239C>ASubstitution - Missense
GALNT11ENSG00000178234ENST00000320311p.Q256Qc.768G>ASubstitution - coding silent
PCDHA13ENSG00000239389ENST00000289272p.A682Ac.2046G>ASubstitution - coding silent
SYNPOENSG00000171992ENST00000307662p.A328Vc.983C>TSubstitution - Missense
MAGEA6ENSG00000197172ENST00000329342p.T97Tc.291C>TSubstitution - coding silent
TCOF1ENSG00000070814ENST00000323668p.Q1208Rc.3623A>GSubstitution - Missense
ENST00000305759p.F749Sc.2246T>CSubstitution - Missense
POM121L2ENSG00000158553ENST00000444565p.A489Tc.1465G>ASubstitution - Missense
ZSCAN31ENSG00000235109ENST00000439158p.R238Hc.713G>ASubstitution - Missense
OR2A12ENSG00000221858ENST00000408949p.F177fs*30c.526delTDeletion - Frameshift
HIST1H3IENSG00000182572ENST00000328488p.R135Mc.404G>TSubstitution - Missense
FLOT1ENSG00000137312ENST00000376389p.A390fs*4c.1168delGDeletion - Frameshift
ENST00000450194p.I309fs*29c.922delGDeletion - Frameshift
PKD1L1ENSG00000158683ENST00000289672p.N338delNc.1013_1015delACADeletion - In frame
RIMS2ENSG00000176406ENST00000436393p.H329Hc.987T>CSubstitution - coding silent
WWP2ENSG00000198373ENST00000359154p.S395Lc.1184C>TSubstitution - Missense
WDR90ENSG00000161996ENST00000293879p.H370Hc.1110C>TSubstitution - coding silent
RP1L1ENSG00000183638ENST00000382483p.R703*c.2107C>TSubstitution - Nonsense
TERF2ENSG00000132604ENST00000254942p.I198Sc.593T>GSubstitution - Missense
MCM7ENSG00000166508ENST00000303887p.R567Rc.1701C>TSubstitution - coding silent
KIAA1671ENSG00000197077ENST00000358431p.Q1754Qc.5262A>GSubstitution - coding silent
NM_058004.1p.K1183Nc.3549G>TSubstitution - Missense
PXDNENSG00000130508ENST00000252804p.N865fs*2c.2585_2586insCInsertion - Frameshift
SPANXN2ENSG00000203924ENST00000370498p.Y55Yc.165T>CSubstitution - coding silent
FGF13ENSG00000129682ENST00000370603p.K82Kc.246G>ASubstitution - coding silent
ENST00000301171p.?c.633+8G>AUnknown
FCGBPENSG00000090920ENST00000221347p.C2763Rc.8287T>CSubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.C1149Yc.3446G>ASubstitution - Missense
SPTBN4ENSG00000160460ENST00000352632p.A1942Ac.5826C>ASubstitution - coding silent
HECW1ENSG00000002746ENST00000395891p.P784Pc.2352G>ASubstitution - coding silent
CHAF1AENSG00000167670ENST00000301280p.R582Rc.1746C>TSubstitution - coding silent
NEBENSG00000183091ENST00000409198p.T5924Tc.17772T>CSubstitution - coding silent
ORC4ENSG00000115947ENST00000264169p.G70*c.208G>TSubstitution - Nonsense
RIF1ENSG00000080345ENST00000444746p.S2189Sc.6567C>TSubstitution - coding silent
BAZ2BENSG00000123636ENST00000392783p.I1395fs*10c.4182_4183insGInsertion - Frameshift
NM_002847.2p.Q97*c.289C>TSubstitution - Nonsense
HYDINENSG00000157423ENST00000393550p.H479Yc.1435C>TSubstitution - Missense
NWD1ENSG00000188039ENST00000524140p.G34Dc.101G>ASubstitution - Missense
NEBENSG00000183091ENST00000397345p.E708Dc.2124A>CSubstitution - Missense
GALNT13ENSG00000144278ENST00000409237p.A223Tc.667G>ASubstitution - Missense
ENST00000449000p.Y82Yc.246T>CSubstitution - coding silent
CHD6ENSG00000124177ENST00000373233p.T386Ac.1156A>GSubstitution - Missense
PHYKPLENSG00000175309ENST00000308158p.G405Ec.1214G>ASubstitution - Missense
PKHD1ENSG00000170927ENST00000371117p.V3774Vc.11322A>GSubstitution - coding silent
MRI1ENSG00000037757ENST00000319545p.S235fs*24c.698delCDeletion - Frameshift
DDX60ENSG00000137628ENST00000393743p.L1116Ic.3346C>ASubstitution - Missense
HTR3EENSG00000186038ENST00000335304p.T320fs*14c.958delADeletion - Frameshift
FGFR4ENSG00000160867ENST00000292408p.L789Lc.2365T>CSubstitution - coding silent
MAP3K1ENSG00000095015ENST00000399503p.A1192Ac.3576C>TSubstitution - coding silent
ENTPD1ENSG00000138185ENST00000453258p.N234Nc.702C>TSubstitution - coding silent
C10orf82ENSG00000165863ENST00000588184p.H80Hc.240C>TSubstitution - coding silent
DNMBPENSG00000107554ENST00000422692p.Q49*c.145C>TSubstitution - Nonsense
RAPGEF1ENSG00000107263ENST00000372195p.R1040Cc.3118C>TSubstitution - Missense
MAGEC1ENSG00000155495ENST00000285879p.V447Gc.1340T>GSubstitution - Missense
SURF4ENSG00000148248ENST00000371991p.M168Vc.502A>GSubstitution - Missense
ZNF618ENSG00000157657ENST00000288466p.?c.889+4A>GUnknown
PTPRRENSG00000153233ENST00000283228p.H641Yc.1921C>TSubstitution - Missense
ANKRD42ENSG00000137494ENST00000393389p.?c.451-9T>CUnknown
RUFY2ENSG00000204130ENST00000399200p.S21Gc.61A>GSubstitution - Missense
ZNF107ENSG00000196247ENST00000395391p.L707Fc.2119C>TSubstitution - Missense
RFC2ENSG00000049541ENST00000055077p.A353Tc.1057G>ASubstitution - Missense
CLIP2ENSG00000106665ENST00000361545p.?c.679-4A>GUnknown
SMARCA2ENSG00000080503ENST00000349721p.V962Vc.2886G>TSubstitution - coding silent
MED12ENSG00000184634ENST00000374080p.G1448Vc.4343G>TSubstitution - Missense
RAB3GAP1ENSG00000115839ENST00000264158p.D301Vc.902A>TSubstitution - Missense
SEZ6L2ENSG00000174938ENST00000350527p.N434fs*69c.1299delCDeletion - Frameshift
TTLL8ENSG00000138892ENST00000440475p.E56Ec.168G>ASubstitution - coding silent
NM_152405.1p.T163Ac.487A>GSubstitution - Missense
ZNF66ENSG00000160229ENST00000425625p.V78Mc.232G>ASubstitution - Missense
TUBB4BENSG00000188229ENST00000340384p.T55Ic.164C>TSubstitution - Missense
GNL3LENSG00000130119ENST00000336470p.H368Rc.1103A>GSubstitution - Missense
DGAT2L6ENSG00000184210ENST00000333026p.?c.197-8A>GUnknown
CCDC171ENSG00000164989ENST00000380701p.D156Vc.467A>TSubstitution - Missense
CACNA1BENSG00000148408ENST00000371372p.S1228Nc.3683G>ASubstitution - Missense
PJA1ENSG00000181191ENST00000361478p.P568Pc.1704A>GSubstitution - coding silent
GRIK2ENSG00000164418ENST00000318991p.?c.1748+3A>GUnknown
TUBE1ENSG00000074935ENST00000368662p.P189Sc.565C>TSubstitution - Missense
TFAP2AENSG00000137203ENST00000319516p.S181Sc.543C>ASubstitution - coding silent
RSPH4AENSG00000111834ENST00000229554p.S167Rc.501C>ASubstitution - Missense
CSF2RBENSG00000100368ENST00000403662p.P82Pc.246C>GSubstitution - coding silent
ICAM1ENSG00000090339ENST00000264832p.R478Gc.1432C>GSubstitution - Missense
RTTNENSG00000176225ENST00000255674p.N1897Ic.5690A>TSubstitution - Missense
PCDH11XENSG00000102290ENST00000373094p.L1078Lc.3234T>CSubstitution - coding silent
SEMA5AENSG00000112902ENST00000382496p.S39Sc.117C>ASubstitution - coding silent
PTPRMENSG00000173482ENST00000332175p.?c.3747+8C>TUnknown
COL5A3ENSG00000080573ENST00000264828p.Q1693fs*>53c.5077delCDeletion - Frameshift
RIMS1ENSG00000079841ENST00000521978p.?c.2372+3A>GUnknown
CSMD3ENSG00000164796ENST00000297405p.R1021Rc.3063C>TSubstitution - coding silent
OGFRL1ENSG00000119900ENST00000370435p.H264Hc.792T>CSubstitution - coding silent
DPPA5ENSG00000203909ENST00000370370p.S73Sc.219C>ASubstitution - coding silent
DSTENSG00000151914ENST00000370769p.R7470Qc.22409G>ASubstitution - Missense
TNRC6BENSG00000100354ENST00000454349p.G1656Gc.4968C>TSubstitution - coding silent
DHX8ENSG00000067596ENST00000262415p.?c.2503-7C>AUnknown
LRBAENSG00000198589ENST00000357115p.F504Sc.1511T>CSubstitution - Missense
OTUD4ENSG00000164164ENST00000447906p.R457Cc.1369C>TSubstitution - Missense
DCHS2ENSG00000197410ENST00000339452p.D971Nc.2911G>ASubstitution - Missense
SMC2ENSG00000136824ENST00000286398p.E189fs*3c.563_564insAInsertion - Frameshift
PDE6AENSG00000132915ENST00000255266p.Q699Rc.2096A>GSubstitution - Missense
NAA35ENSG00000135040ENST00000361671p.K408fs*69c.1217delCDeletion - Frameshift
ABCC3ENSG00000108846ENST00000285238p.Y1232Cc.3695A>GSubstitution - Missense
PTGES3LENSG00000267060ENST00000453594p.N87Nc.261T>CSubstitution - coding silent
WHSC1ENSG00000109685ENST00000382891p.F1295Cc.3884T>GSubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.N2013fs*6c.6038_6039insAInsertion - Frameshift
PREPLENSG00000138078ENST00000260648p.T5Ic.14C>TSubstitution - Missense
RNGTTENSG00000111880ENST00000369485p.K85Nc.255A>TSubstitution - Missense
PCDHGB1ENSG00000254221ENST00000523390p.L800Mc.2398T>ASubstitution - Missense
WDR49ENSG00000174776ENST00000453925p.P594Sc.1780C>TSubstitution - Missense
ZBBXENSG00000169064ENST00000455345p.M118fs*12c.352delADeletion - Frameshift
BCHEENSG00000114200ENST00000264381p.S515Nc.1544G>ASubstitution - Missense
SKILENSG00000136603ENST00000259119p.D387Dc.1161C>TSubstitution - coding silent
ZNF540ENSG00000171817ENST00000316433p.S116Sc.348C>TSubstitution - coding silent
POMT1ENSG00000130714ENST00000372228p.N714Nc.2142C>TSubstitution - coding silent
POMT1ENSG00000130714ENST00000372220p.N313Nc.939C>TSubstitution - coding silent
ADAMTS13ENSG00000160323ENST00000371929p.A293Tc.877G>ASubstitution - Missense
NM_014866.1p.S225fs*59c.673delTDeletion - Frameshift
REXO4ENSG00000148300ENST00000371942p.K160Tc.479A>CSubstitution - Missense
L1CAMENSG00000198910ENST00000370060p.G574Ec.1721G>ASubstitution - Missense
KRBA1ENSG00000133619ENST00000255992p.E705Gc.2114A>GSubstitution - Missense
SNX14ENSG00000135317ENST00000314673p.D867Ec.2601T>ASubstitution - Missense
PHACTR1ENSG00000112137ENST00000332995p.E386Dc.1158A>TSubstitution - Missense
EPB41L2ENSG00000079819ENST00000368128p.A53Tc.157G>ASubstitution - Missense
C19orf55ENSG00000167595ENST00000396908p.D408Dc.1224C>TSubstitution - coding silent
PCDHGC5ENSG00000240764ENST00000252087p.P823Pc.2469G>ASubstitution - coding silent
KIAA0226ENSG00000145016ENST00000273582p.M361Ic.1083G>ASubstitution - Missense
ENST00000265148.1p.P1293Sc.3877C>TSubstitution - Missense
PAPSS1ENSG00000138801ENST00000265174p.L288Lc.864G>ASubstitution - coding silent
PIGZENSG00000119227ENST00000412723p.S368Sc.1104C>ASubstitution - coding silent
IQCGENSG00000114473ENST00000265239p.P121Pc.363G>ASubstitution - coding silent
GSTCDENSG00000138780ENST00000515279p.C101fs*2c.296_297insTInsertion - Frameshift
CRYBB3ENSG00000100053ENST00000215855p.G176Vc.527G>TSubstitution - Missense
PLA2G3ENSG00000100078ENST00000215885p.G19Vc.56G>TSubstitution - Missense
MAGIXENSG00000017621ENST00000412696p.P117Sc.349C>TSubstitution - Missense
PRKDCENSG00000253729ENST00000314191p.V2117Mc.6349G>ASubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.V399Mc.1195G>ASubstitution - Missense
ENSG00000183154ENST00000330539p.S50Nc.149G>ASubstitution - Missense
HDAC6ENSG00000094631ENST00000334136p.I1122Vc.3364A>GSubstitution - Missense
MED14ENSG00000180182ENST00000324817p.?c.3022-1G>AUnknown
XM_498354.1p.L416Ic.1246C>ASubstitution - Missense
FAM13AENSG00000138640ENST00000264344p.P205Pc.615T>CSubstitution - coding silent
WDFY3ENSG00000163625ENST00000295888p.R2097Mc.6290G>TSubstitution - Missense
CAMK1ENSG00000134072ENST00000256460p.E236Kc.706G>ASubstitution - Missense
SLC22A14ENSG00000144671ENST00000273173p.S245Sc.735G>ASubstitution - coding silent
RNASEK-C17orf49ENSG00000161939ENST00000547302p.?c.10+3A>GUnknown
ENST00000316893p.R1072Hc.3215G>ASubstitution - Missense
ABCA9ENSG00000154258ENST00000340001p.W1460*c.4379G>ASubstitution - Nonsense
ENSG00000083842ENST00000196548p.I546fs*25c.1630_1631insAInsertion - Frameshift
ADD2ENSG00000075340ENST00000264436p.E551*c.1651G>TSubstitution - Nonsense
ENSG00000172901ENST00000357872p.I417Ic.1251T>CSubstitution - coding silent
FBXL17ENSG00000145743ENST00000496714p.V289fs*16c.864delCDeletion - Frameshift
SLC2A9ENSG00000109667ENST00000264784p.L221Lc.663G>ASubstitution - coding silent
SLC12A7ENSG00000113504ENST00000264930p.N1029Nc.3087C>TSubstitution - coding silent
CHN2ENSG00000106069ENST00000539406p.R6Mc.17G>TSubstitution - Missense
SHPRHENSG00000146414ENST00000367505p.V476Ic.1426G>ASubstitution - Missense
ADGBENSG00000118492ENST00000367489p.Q104*c.310C>TSubstitution - Nonsense
OLIG3ENSG00000177468ENST00000367734p.A172Tc.514G>ASubstitution - Missense
C4orf21ENSG00000138658ENST00000505019p.H772fs*13c.2306_2307insAInsertion - Frameshift
JADE1ENSG00000077684ENST00000413543p.R140Rc.420C>ASubstitution - coding silent
NAA15ENSG00000164134ENST00000296543p.A698Tc.2092G>ASubstitution - Missense
TBC1D9BENSG00000197226ENST00000355235p.E132Dc.396G>TSubstitution - Missense
NPR3ENSG00000113389ENST00000265074p.L132Lc.394C>TSubstitution - coding silent
NDNFENSG00000173376ENST00000379692p.K361Kc.1083G>ASubstitution - coding silent
ALPK1ENSG00000073331ENST00000458497p.P977Pc.2931T>CSubstitution - coding silent
MAP7ENSG00000135525ENST00000354570p.K608Ec.1822A>GSubstitution - Missense
ANKRD28ENSG00000206560ENST00000399451p.D508Dc.1524C>TSubstitution - coding silent
TET3ENSG00000187605ENST00000409262p.P608Sc.1822C>TSubstitution - Missense
SH3BP4ENSG00000130147ENST00000344528p.L566Lc.1696C>TSubstitution - coding silent
GREB1ENSG00000196208ENST00000381486p.I1509Ic.4527C>TSubstitution - coding silent
PTPN4ENSG00000088179ENST00000263708p.C783Cc.2349C>TSubstitution - coding silent
MAP7D2ENSG00000184368ENST00000379643p.L127Mc.379C>ASubstitution - Missense
SCML2ENSG00000102098ENST00000251900p.I274Tc.821T>CSubstitution - Missense
F8ENSG00000185010ENST00000360256p.?c.143+10T>CUnknown
TAB3ENSG00000157625ENST00000378933p.T463Mc.1388C>TSubstitution - Missense
ADAM22ENSG00000008277ENST00000265727p.G848Sc.2542G>ASubstitution - Missense
SEMA3CENSG00000075223ENST00000265361p.S365Sc.1095C>ASubstitution - coding silent
RUNDC3BENSG00000105784ENST00000338056p.?c.290-7C>AUnknown
ESR1ENSG00000091831ENST00000440973p.I326fs*7c.971_972insCInsertion - Frameshift
WIPF3ENSG00000122574ENST00000409290p.R129Cc.385C>TSubstitution - Missense
CYP2D6ENSG00000100197ENST00000359033p.K163Nc.489G>TSubstitution - Missense
TRMUENSG00000100416ENST00000290846p.K171Ec.511A>GSubstitution - Missense
TMCC1ENSG00000172765ENST00000393238p.Q570Rc.1709A>GSubstitution - Missense
NGEFENSG00000066248ENST00000264051p.E226delEc.676_678delGAGDeletion - In frame
SP100ENSG00000067066ENST00000341950p.?c.108-2A>GUnknown
ATXN2LENSG00000168488ENST00000395547p.D646Ec.1938T>GSubstitution - Missense
RELBENSG00000104856ENST00000221452p.R176Wc.526C>TSubstitution - Missense
NCKAP5ENSG00000176771ENST00000409261p.P439Pc.1317T>ASubstitution - coding silent
HIF3AENSG00000124440ENST00000420102p.L2Lc.6G>ASubstitution - coding silent
KDM8ENSG00000155666ENST00000441782p.A180Tc.538G>ASubstitution - Missense
KCNH6ENSG00000173826ENST00000583023p.L410Pc.1229T>CSubstitution - Missense
TMEM67ENSG00000164953ENST00000453321p.Y933Cc.2798A>GSubstitution - Missense
RPGRIP1LENSG00000103494ENST00000379925p.K403Nc.1209A>CSubstitution - Missense
COL6A2ENSG00000142173ENST00000357838p.N232Sc.695A>GSubstitution - Missense
PLXDC1ENSG00000161381ENST00000315392p.A438Ac.1314G>ASubstitution - coding silent
C21orf33ENSG00000160221ENST00000291577p.I173Fc.517A>TSubstitution - Missense
DSCAMENSG00000171587ENST00000400454p.K1196Nc.3588G>TSubstitution - Missense
SMARCA4ENSG00000127616ENST00000429416p.E1364Ac.4091A>CSubstitution - Missense
ZBTB21ENSG00000173276ENST00000398499p.D388fs*8c.1161delADeletion - Frameshift
DALRD3ENSG00000178149ENST00000341949p.P21Lc.62C>TSubstitution - Missense
APPENSG00000142192ENST00000346798p.Q408Hc.1224G>TSubstitution - Missense
HUNKENSG00000142149ENST00000270112p.D494fs*39c.1476delCDeletion - Frameshift
ITSN1ENSG00000205726ENST00000381318p.L1526Ic.4576C>ASubstitution - Missense
DOPEY2ENSG00000142197ENST00000399151p.L1930Fc.5788C>TSubstitution - Missense
PPLENSG00000118898ENST00000345988p.Q1225fs*7c.3673delCDeletion - Frameshift
KRTAP1-3ENSG00000221880ENST00000344363p.C159Yc.476G>ASubstitution - Missense
DDX52ENSG00000141141ENST00000349699p.S99Sc.297C>ASubstitution - coding silent
TCEB3BENSG00000206181ENST00000332567p.K572fs*47c.1715_1718delAAGADeletion - Frameshift
ZKSCAN5ENSG00000196652ENST00000394170p.Q672Qc.2016G>ASubstitution - coding silent
ENST00000356067p.T114Mc.341C>TSubstitution - Missense
FZD1ENSG00000157240ENST00000287934p.L137Lc.411G>ASubstitution - coding silent
ANKIB1ENSG00000001629ENST00000265742p.T691Ic.2072C>TSubstitution - Missense
GSDMDENSG00000104518ENST00000262580p.A332Ac.996G>ASubstitution - coding silent
BSNENSG00000164061ENST00000296452p.S2741Sc.8223C>TSubstitution - coding silent
SVOPLENSG00000157703ENST00000419765p.V147Mc.439G>ASubstitution - Missense
NM_003319p.W11820*c.35460G>ASubstitution - Nonsense
ENST00000356127p.K13707Nc.41121G>TSubstitution - Missense
ASXL1ENSG00000171456ENST00000375687p.V907Ac.2720T>CSubstitution - Missense
OR11H1ENSG00000130538ENST00000252835p.N106fs*31c.317_318insAInsertion - Frameshift
ENST00000356127p.T29477Mc.88430C>TSubstitution - Missense
SUN5ENSG00000167098ENST00000356173p.N348fs*>32c.1041delGDeletion - Frameshift
FASTKD5ENSG00000215251ENST00000380266p.G640Gc.1920A>TSubstitution - coding silent
TNFRSF11AENSG00000141655ENST00000269485p.?c.427+7G>TUnknown
ABHD3ENSG00000158201ENST00000289119p.V347Ic.1039G>ASubstitution - Missense
LRRCC1ENSG00000133739ENST00000360375p.F598fs*10c.1789delTDeletion - Frameshift
IMPA1ENSG00000133731ENST00000256108p.S79Gc.235A>GSubstitution - Missense
KIF1AENSG00000130294ENST00000320389p.P845Hc.2534C>ASubstitution - Missense
GPR35ENSG00000178623ENST00000319838p.A25Sc.73G>TSubstitution - Missense
TSGA10ENSG00000135951ENST00000355053p.L182Lc.546A>CSubstitution - coding silent
INPP4AENSG00000040933ENST00000409540p.G824Dc.2471G>ASubstitution - Missense
RAPH1ENSG00000173166ENST00000308091p.D340Dc.1020T>CSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.T18330Sc.54988A>TSubstitution - Missense
ENST00000356127p.P9886Hc.29657C>ASubstitution - Missense
CECR2ENSG00000099954ENST00000262608p.P577Pc.1731G>ASubstitution - coding silent
CHRNA1ENSG00000138435ENST00000261007p.R346Cc.1036C>TSubstitution - Missense
NM_003319p.S14018Sc.42054C>TSubstitution - coding silent
ENST00000356127p.D12691Dc.38073C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.S32091Yc.96272C>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.W14613*c.43839G>ASubstitution - Nonsense
NM_003319p.W14488*c.43464G>ASubstitution - Nonsense
ENST00000356127p.P20570fs*37c.61709delCDeletion - Frameshift
TTNENSG00000155657ENST00000342175p.P14267fs*37c.42800delCDeletion - Frameshift
TTNENSG00000155657ENST00000342175p.P10104Pc.30312A>CSubstitution - coding silent
GAS2L1ENSG00000185340ENST00000341313p.?c.742-5T>GUnknown
RBM11ENSG00000185272ENST00000400577p.E6Gc.17A>GSubstitution - Missense
DEPDC5ENSG00000100150ENST00000400248p.?c.364-6T>CUnknown
SEZ6LENSG00000100095ENST00000248933p.P149Sc.445C>TSubstitution - Missense
ARFGAP1ENSG00000101199ENST00000353546p.Y103Hc.307T>CSubstitution - Missense
ZNF836ENSG00000196267ENST00000322146p.K629Tc.1886A>CSubstitution - Missense
ATP2B2ENSG00000157087ENST00000383800p.?c.781+6C>TUnknown
ZNF611ENSG00000213020ENST00000319783p.R58Mc.173G>TSubstitution - Missense
HAS1ENSG00000105509ENST00000222115p.T221Tc.663A>CSubstitution - coding silent
OR5H1ENSG00000231192ENST00000354565p.V309Vc.927T>CSubstitution - coding silent
TACR3ENSG00000169836ENST00000304883p.G277Gc.831A>GSubstitution - coding silent
BICD1ENSG00000151746ENST00000281474p.S646Pc.1936T>CSubstitution - Missense
EFNA4ENSG00000243364ENST00000427683p.N51Sc.152A>GSubstitution - Missense
MTFMTENSG00000103707ENST00000220058p.?c.814-5T>CUnknown
SYNE2ENSG00000054654ENST00000358025p.M5960Vc.17878A>GSubstitution - Missense
ENST00000358254p.S322Sc.966C>TSubstitution - coding silent
EXOC5ENSG00000070367ENST00000413566p.L220Pc.659T>CSubstitution - Missense
VWA9ENSG00000138614ENST00000395644p.?c.330+10A>GUnknown
ENST00000417249p.K561Nc.1683G>TSubstitution - Missense
GOLGA5ENSG00000066455ENST00000163416p.L347Lc.1041G>ASubstitution - coding silent
ENST00000331826_v68p.K326Ec.976A>GSubstitution - Missense
DDHD1ENSG00000100523ENST00000357758p.A153Vc.458C>TSubstitution - Missense
FAM69AENSG00000154511ENST00000370310p.E357Dc.1071A>CSubstitution - Missense
ARHGEF7ENSG00000102606ENST00000317133p.K434Kc.1302A>GSubstitution - coding silent
HHIPL1ENSG00000182218ENST00000330710p.T527Tc.1581C>ASubstitution - coding silent
ENST00000456228p.V6Vc.18G>TSubstitution - coding silent
DAOAENSG00000182346ENST00000375936p.L95Fc.283C>TSubstitution - Missense
NM_014572p.D981Dc.2943C>TSubstitution - coding silent
AVENENSG00000169857ENST00000306730p.G279Rc.835G>ASubstitution - Missense
BCAR1ENSG00000050820ENST00000393420p.A850Ac.2550C>TSubstitution - coding silent
SNPHENSG00000101298ENST00000381867p.M161Ic.483G>ASubstitution - Missense
KCNG4ENSG00000168418ENST00000308251p.S29Nc.86G>ASubstitution - Missense
ATMINENSG00000166454ENST00000299575p.V489Dc.1466T>ASubstitution - Missense
PLD2ENSG00000129219ENST00000263088p.L245Lc.735G>TSubstitution - coding silent
MKKSENSG00000125863ENST00000399054p.C451Yc.1352G>ASubstitution - Missense
SMPDL3BENSG00000130768ENST00000373894p.L70Rc.209T>GSubstitution - Missense
SLC45A1ENSG00000162426ENST00000289877p.V282Ic.844G>ASubstitution - Missense
OR2T11ENSG00000183130ENST00000330803p.L102Mc.304C>ASubstitution - Missense
OTTHUMT00000057980.1p.G92*c.274G>TSubstitution - Nonsense
ANGPTL4ENSG00000167772ENST00000301455p.H154Hc.462T>CSubstitution - coding silent
APOBENSG00000084674ENST00000233242p.L2092Lc.6274C>TSubstitution - coding silent
FN1ENSG00000115414ENST00000336916p.?c.415+9G>TUnknown
PAX1ENSG00000125813ENST00000398485p.V378Ac.1133T>CSubstitution - Missense
CPS1ENSG00000021826ENST00000233072p.?c.948-10T>CUnknown
ENST00000356127p.N5656Nc.16968C>TSubstitution - coding silent
THOC2ENSG00000125676ENST00000245838p.M511Lc.1531A>TSubstitution - Missense
FANCCENSG00000158169ENST00000289081p.G139Gc.417G>ASubstitution - coding silent
YTHDF3ENSG00000185728ENST00000539294p.P127fs*3c.372_373insTInsertion - Frameshift
GLUD2ENSG00000182890ENST00000328078p.D75Dc.225T>CSubstitution - coding silent
DCAF12L1ENSG00000198889ENST00000371126p.A79Ac.237G>ASubstitution - coding silent
AIFM1ENSG00000156709ENST00000287295p.F566Lc.1696T>CSubstitution - Missense
ZBTB33ENSG00000177485ENST00000326624p.S234Nc.701G>ASubstitution - Missense
POLD1ENSG00000062822ENST00000440232p.E534*c.1600G>TSubstitution - Nonsense
ZNF208ENSG00000160321ENST00000397126p.C807Yc.2420G>ASubstitution - Missense
MED25ENSG00000104973ENST00000312865p.T424Tc.1272G>ASubstitution - coding silent
C19orf48ENSG00000167747ENST00000391812p.A76Sc.226G>TSubstitution - Missense
FXR2ENSG00000129245ENST00000250113p.?c.1528+2T>CUnknown
DNAJA1ENSG00000086061ENST00000330899p.N369Dc.1105A>GSubstitution - Missense
DOCK8ENSG00000107099ENST00000432829p.R1836Wc.5506C>TSubstitution - Missense
FLNCENSG00000128591ENST00000325888p.P807Tc.2419C>ASubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.N775Nc.2325C>TSubstitution - coding silent
KIAA0020ENSG00000080608ENST00000397885p.?c.1635+8G>AUnknown
KCNB1ENSG00000158445ENST00000371741p.H606Rc.1817A>GSubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.I841Lc.2521A>CSubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.P1155Lc.3464C>TSubstitution - Missense
OSBPL2ENSG00000130703ENST00000313733p.?c.38-3C>TUnknown
NDRG3ENSG00000101079ENST00000349004p.?c.588+6T>AUnknown
GIT1ENSG00000108262ENST00000225394p.R142Lc.425G>TSubstitution - Missense
CDCA2ENSG00000184661ENST00000330560p.G30Gc.90G>ASubstitution - coding silent
C3orf67ENSG00000163689ENST00000295966p.Y559Yc.1677C>TSubstitution - coding silent
FAM208AENSG00000163946ENST00000355628p.L1435Lc.4305T>GSubstitution - coding silent
TSGA13ENSG00000213265ENST00000356588p.P158Tc.472C>ASubstitution - Missense
KCNV2ENSG00000168263ENST00000382082p.P178Lc.533C>TSubstitution - Missense
RPTORENSG00000141564ENST00000306801p.A467Vc.1400C>TSubstitution - Missense
CBX2ENSG00000173894ENST00000310942p.H217Hc.651C>TSubstitution - coding silent
ATP8A2ENSG00000132932ENST00000381655p.R720Qc.2159G>ASubstitution - Missense
SPENENSG00000065526ENST00000375759p.L1531fs*7c.4586_4587insTInsertion - Frameshift
COPAENSG00000122218ENST00000241704p.G415Cc.1243G>TSubstitution - Missense
KCNC1ENSG00000129159ENST00000379472p.D375Yc.1123G>TSubstitution - Missense
APBA2ENSG00000034053ENST00000561069p.D216fs*20c.643delGDeletion - Frameshift
SLAMF7ENSG00000026751ENST00000368043p.M135Vc.403A>GSubstitution - Missense
ARHGEF16ENSG00000130762ENST00000378378p.T637Sc.1910C>GSubstitution - Missense
ENST00000373082p.L560Lc.1680G>ASubstitution - coding silent
CSMD2ENSG00000121904ENST00000241312p.A3234Ac.9702G>ASubstitution - coding silent
BRCA2ENSG00000139618ENST00000380152p.N1287fs*6c.3854delADeletion - Frameshift
PRRC2CENSG00000117523ENST00000392078p.T2152Ic.6455C>TSubstitution - Missense
NCDNENSG00000020129ENST00000373253p.L603Lc.1809A>GSubstitution - coding silent
MTHFRENSG00000177000ENST00000376592p.T227Tc.681G>ASubstitution - coding silent
DCAF6ENSG00000143164ENST00000367843p.Y261Hc.781T>CSubstitution - Missense
GPR161ENSG00000143147ENST00000537209p.S107Ic.320G>TSubstitution - Missense
DPF2ENSG00000133884ENST00000528416p.?c.776-10C>TUnknown
SYVN1ENSG00000162298ENST00000377190p.E487Ec.1461G>ASubstitution - coding silent
CHRM1ENSG00000168539ENST00000306960p.G33Gc.99C>TSubstitution - coding silent
ENST00000312452p.?c.195-6C>AUnknown
ARHGAP22ENSG00000128805ENST00000249601p.?c.867-8C>TUnknown
MACF1ENSG00000127603ENST00000360115p.H2691Yc.8071C>TSubstitution - Missense
SRRM4ENSG00000139767ENST00000267260p.R594Qc.1781G>ASubstitution - Missense
CTPS1ENSG00000171793ENST00000372621p.V398Mc.1192G>ASubstitution - Missense
NM_152696p.I934Vc.2800A>GSubstitution - Missense
NM_004073p.?c.831+3C>AUnknown
GAS2ENSG00000148935ENST00000454584p.L138Ic.412C>ASubstitution - Missense
DEPDC7ENSG00000121690ENST00000241051p.Y248Hc.742T>CSubstitution - Missense
ATMENSG00000149311ENST00000278616p.A2843Vc.8528C>TSubstitution - Missense
KMT2AENSG00000118058ENST00000534358p.N3139Dc.9415A>GSubstitution - Missense
ARHGEF12ENSG00000196914ENST00000397843p.H177Rc.530A>GSubstitution - Missense
CAPRIN1ENSG00000135387ENST00000389645p.M395Kc.1184T>ASubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.V521Ic.1561G>ASubstitution - Missense
ANGEL1ENSG00000013523ENST00000251089p.R505Hc.1514G>ASubstitution - Missense
NPRL3ENSG00000103148ENST00000399953p.D455Gc.1364A>GSubstitution - Missense
BICC1ENSG00000122870ENST00000373886p.K939Rc.2816A>GSubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.L1752Lc.5256C>TSubstitution - coding silent
KIAA1324ENSG00000116299ENST00000369939p.T89Tc.267C>ASubstitution - coding silent
MTORENSG00000198793ENST00000361445p.P1408Sc.4222C>TSubstitution - Missense
CRAMP1LENSG00000007545ENST00000397412p.?c.541-1G>TUnknown
C1orf53ENSG00000203724ENST00000367393p.G113Gc.339T>CSubstitution - coding silent
ANKRD26ENSG00000107890ENST00000376087p.A983Vc.2948C>TSubstitution - Missense
KIAA0247ENSG00000100647ENST00000342745p.S224Sc.672C>ASubstitution - coding silent
ZMYND11ENSG00000015171ENST00000397962p.E251Gc.752A>GSubstitution - Missense
TRDMT1ENSG00000107614ENST00000377799p.T56Mc.167C>TSubstitution - Missense
TRDMT1ENSG00000107614ENST00000377799p.C24Gc.70T>GSubstitution - Missense
SPAG6ENSG00000077327ENST00000376624p.T379Tc.1137T>GSubstitution - coding silent
KCNC2ENSG00000166006ENST00000298972p.R561Sc.1683A>TSubstitution - Missense
SMG7ENSG00000116698ENST00000347615p.F303Fc.909T>CSubstitution - coding silent
NMNAT2ENSG00000157064ENST00000287713p.?c.652-1G>TUnknown
CDCA3ENSG00000111665ENST00000538862p.L265Lc.795G>ASubstitution - coding silent
CACNA1EENSG00000198216ENST00000367573p.A1684Tc.5050G>ASubstitution - Missense
ITGA10ENSG00000143127ENST00000369304p.C877Cc.2631C>TSubstitution - coding silent
ELF3ENSG00000163435ENST00000359651p.N357fs*>16c.1070_1071insAInsertion - Frameshift
PRTGENSG00000166450ENST00000389286p.?c.974-1G>TUnknown
IGFN1ENSG00000163395ENST00000335211p.E3683Kc.11047G>ASubstitution - Missense
NFASCENSG00000163531ENST00000403080p.P549Pc.1647C>TSubstitution - coding silent
KIAA1731ENSG00000166004ENST00000325212p.R38Rc.114A>GSubstitution - coding silent
HNRNPCL1ENSG00000179172ENST00000317869p.Q290Hc.870G>TSubstitution - Missense
CCNKENSG00000090061ENST00000389879p.C113fs*2c.329_330insAInsertion - Frameshift
C1orf177ENSG00000162398ENST00000358193p.P292Hc.875C>ASubstitution - Missense
SOS2ENSG00000100485ENST00000216373p.N533fs*14c.1591_1592insAInsertion - Frameshift
AK7ENSG00000140057ENST00000267584p.L24Lc.72G>ASubstitution - coding silent
POLE2ENSG00000100479ENST00000216367p.K194Nc.582A>TSubstitution - Missense
FBN1ENSG00000166147ENST00000316623p.S932fs*10c.2793delGDeletion - Frameshift
COL11A1ENSG00000060718ENST00000370096p.G1249Sc.3745G>ASubstitution - Missense
RETENSG00000165731ENST00000355710p.A45Tc.133G>ASubstitution - Missense
ZNF37AENSG00000075407ENST00000361085p.S337Nc.1010G>ASubstitution - Missense
CMKLR1ENSG00000174600ENST00000312143p.G297Dc.890G>ASubstitution - Missense
THSD1ENSG00000136114ENST00000258613p.P756Pc.2268C>TSubstitution - coding silent
ENST00000377560_v62p.C2997Cc.8991C>TSubstitution - coding silent
NM_015057.1p.S1073Nc.3218G>ASubstitution - Missense
MYCBP2ENSG00000005810ENST00000357337p.L1025fs*4c.3068_3069insTInsertion - Frameshift
SFTPA2ENSG00000185303ENST00000372325p.R199Hc.596G>ASubstitution - Missense
ITGA5ENSG00000161638ENST00000293379p.T1034Tc.3102C>TSubstitution - coding silent
SEMA7AENSG00000138623ENST00000261918p.D237Nc.709G>ASubstitution - Missense
MYO9AENSG00000066933ENST00000356056p.I987fs*4c.2959_2960insAInsertion - Frameshift
LRCH1ENSG00000136141ENST00000311191p.T568Sc.1702A>TSubstitution - Missense
HOXC13ENSG00000123364ENST00000243056p.V313Vc.939C>TSubstitution - coding silent
NEK2ENSG00000117650ENST00000366999p.S296Sc.888G>ASubstitution - coding silent
UBE4BENSG00000130939ENST00000343090p.R1220Hc.3659G>ASubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.L164Ic.490C>ASubstitution - Missense
ENST00000349637p.L164Ic.490C>ASubstitution - Missense
PTPRJENSG00000149177ENST00000418331p.?c.1358-1G>AUnknown
APOA1BPENSG00000163382ENST00000368235p.T102fs*54c.298delCDeletion - Frameshift
PI4K2AENSG00000155252ENST00000555577p.S9Fc.26C>TSubstitution - Missense
KCNMA1ENSG00000156113ENST00000404857p.D700Dc.2100T>CSubstitution - coding silent
TMEM254ENSG00000133678ENST00000372281p.H57Rc.170A>GSubstitution - Missense
SCN8AENSG00000196876ENST00000354534p.L1379Pc.4136T>CSubstitution - Missense
TTC13ENSG00000143643ENST00000366661p.D264Ec.792C>ASubstitution - Missense
ENST00000319957p.K1014fs*5c.3038_3039insAInsertion - Frameshift
DIP2BENSG00000066084ENST00000301180p.N772fs*4c.2309_2310insAInsertion - Frameshift
OBSCNENSG00000154358ENST00000284548p.A5346Tc.16036G>ASubstitution - Missense
OR6N1ENSG00000197403ENST00000335094p.L107Fc.319C>TSubstitution - Missense
NCAPD2ENSG00000010292ENST00000315579p.A433Tc.1297G>ASubstitution - Missense
ZDHHC17ENSG00000186908ENST00000426126p.?c.543+3delaUnknown
OR10G4ENSG00000254737ENST00000320891p.M69Tc.206T>CSubstitution - Missense
OR52L1ENSG00000183313ENST00000332249p.T175Tc.525C>TSubstitution - coding silent
AKAP13ENSG00000170776ENST00000361243p.R1521Lc.4562G>TSubstitution - Missense
ENST00000268134p.P2152Pc.6456G>ASubstitution - coding silent
SLC28A1ENSG00000156222ENST00000286749p.K197Ec.589A>GSubstitution - Missense
MKI67ENSG00000148773ENST00000368654p.S1636Fc.4907C>TSubstitution - Missense
SLCO1B7ENSG00000205754ENST00000421593p.S284fs*12c.847delADeletion - Frameshift
LRP10ENSG00000197324ENST00000359591p.L11Ic.31C>ASubstitution - Missense
CKBENSG00000166165ENST00000348956p.V357Ac.1070T>CSubstitution - Missense
CHD8ENSG00000100888ENST00000430710p.?c.1893+9C>TUnknown
FGF14ENSG00000102466ENST00000376143p.?c.408+3A>GUnknown
TINF2ENSG00000092330ENST00000267415p.K149fs*26c.446delADeletion - Frameshift
ENST00000361282p.R719fs*11c.2155_2156insAInsertion - Frameshift
DHRS1ENSG00000157379ENST00000396813p.V165Mc.493G>ASubstitution - Missense
CNNM2ENSG00000148842ENST00000369875p.G274Gc.822C>TSubstitution - coding silent
FMN2ENSG00000155816ENST00000319653p.S1679Sc.5037A>GSubstitution - coding silent
CNNM1ENSG00000119946ENST00000370534p.V64Vc.192G>TSubstitution - coding silent
ATRNL1ENSG00000107518ENST00000355044p.A187Tc.559G>ASubstitution - Missense
DNMBPENSG00000107554ENST00000324109p.Q761*c.2281C>TSubstitution - Nonsense
OPN3ENSG00000054277ENST00000366554p.A130Tc.388G>ASubstitution - Missense
OR56B4ENSG00000180919ENST00000316529p.H301Yc.901C>TSubstitution - Missense
TMEM132AENSG00000006118ENST00000005286p.R499Hc.1496G>ASubstitution - Missense
ZP1ENSG00000149506ENST00000278853p.?c.197-6C>TUnknown
KIAA1522ENSG00000162522ENST00000373480p.R586Hc.1757G>ASubstitution - Missense
MAP7D1ENSG00000116871ENST00000373151p.T302Mc.905C>TSubstitution - Missense
KIAA1522ENSG00000162522ENST00000373480p.E131Ec.393G>ASubstitution - coding silent
CSMD2ENSG00000121904ENST00000373381p.E1963Kc.5887G>ASubstitution - Missense
THRAP3ENSG00000054118ENST00000354618p.T4Sc.10A>TSubstitution - Missense
PDZRN4ENSG00000165966ENST00000402685p.V308Vc.924G>ASubstitution - coding silent
KIF21AENSG00000139116ENST00000361961p.M930Ic.2790G>ASubstitution - Missense
TXNRD1ENSG00000198431ENST00000503506p.I280Ic.840T>CSubstitution - coding silent
KIF21AENSG00000139116ENST00000361961p.Q680Qc.2040G>ASubstitution - coding silent
TDGENSG00000139372ENST00000392872p.A410Vc.1229C>TSubstitution - Missense
CATSPERDENSG00000174898ENST00000381614p.E53Dc.159A>CSubstitution - Missense
FLYWCH1ENSG00000059122ENST00000399667p.P378Lc.1133C>TSubstitution - Missense
TAOK2ENSG00000149930ENST00000416441p.R1027Hc.3080G>ASubstitution - Missense
USH2AENSG00000042781ENST00000366943p.S1942Gc.5824A>GSubstitution - Missense
NFASCENSG00000163531ENST00000367172p.P549Pc.1647C>TSubstitution - coding silent
VPS8ENSG00000156931ENST00000287546p.R932*c.2794C>TSubstitution - Nonsense
BCAR1ENSG00000050820ENST00000393422p.A109Tc.325G>ASubstitution - Missense
SLC9B2ENSG00000164038ENST00000339611p.E407Dc.1221G>TSubstitution - Missense
AIMP1ENSG00000164022ENST00000394701p.S197Sc.591T>CSubstitution - coding silent
ENST00000333984p.I184fs*41c.544_545insTInsertion - Frameshift
VDRENSG00000111424ENST00000535672p.S153delSc.458_460delCCTDeletion - In frame
FOXJ2ENSG00000065970ENST00000428177p.Q17fs*2c.45delCDeletion - Frameshift
FAM193AENSG00000125386ENST00000324666p.M833fs*12c.2497_2498insAInsertion - Frameshift
COBLL1ENSG00000082438ENST00000194871p.Q311fs*4c.930_931insTInsertion - Frameshift
CACNA1EENSG00000198216ENST00000357570p.Q869Rc.2606A>GSubstitution - Missense
NFATC1ENSG00000131196ENST00000591814p.S282Sc.846G>ASubstitution - coding silent
ENST00000586406p.?c.333+4T>AUnknown
HAP1ENSG00000173805ENST00000310778p.L520Ic.1558C>ASubstitution - Missense
ZNF407ENSG00000215421ENST00000577538p.R1529Hc.4586G>ASubstitution - Missense
SLC8A1ENSG00000183023ENST00000542024p.M372Vc.1114A>GSubstitution - Missense
DNAH6ENSG00000115423ENST00000398278p.V1745Vc.5235A>GSubstitution - coding silent
PLB1ENSG00000163803ENST00000329020p.S417Ac.1249T>GSubstitution - Missense
P2RX6ENSG00000099957ENST00000413302p.V264Ic.790G>ASubstitution - Missense
DDX39BENSG00000198563ENST00000417556p.F362Lc.1084T>CSubstitution - Missense
DOPEY1ENSG00000083097ENST00000237163p.S283Tc.847T>ASubstitution - Missense
KCNQ5ENSG00000185760ENST00000402622p.G273*c.817G>TSubstitution - Nonsense
OVCH2ENSG00000183378ENST00000454689p.V82Ic.244G>ASubstitution - Missense
SDK2ENSG00000069188ENST00000392650p.R1072Hc.3215G>ASubstitution - Missense
NUP214ENSG00000126883ENST00000451030p.H929Lc.2786A>TSubstitution - Missense
ZNF81ENSG00000197779ENST00000376950p.T41Sc.121A>TSubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.P1477Sc.4429C>TSubstitution - Missense
C8orf34ENSG00000165084ENST00000325233p.R72Rc.216G>ASubstitution - coding silent
CNTLNENSG00000044459ENST00000262360p.V964Dc.2891T>ASubstitution - Missense
TMEM67ENSG00000164953ENST00000409623p.Y852Cc.2555A>GSubstitution - Missense
ENST00000368148p.G1677Rc.5029G>ASubstitution - Missense
DCCENSG00000187323ENST00000442544p.P1266Pc.3798G>ASubstitution - coding silent
CACHD1ENSG00000158966ENST00000290039p.R1132Cc.3394C>TSubstitution - Missense
LTBP2ENSG00000119681ENST00000261978p.R1002Qc.3005G>ASubstitution - Missense
GJA8ENSG00000121634ENST00000369235p.F52Fc.156C>TSubstitution - coding silent
RPL22ENSG00000116251ENST00000234875p.K15fs*5c.44delADeletion - Frameshift
ZNF568ENSG00000198453ENST00000333987p.C367Cc.1101T>CSubstitution - coding silent
CCDC37ENSG00000163885ENST00000352312p.T177Mc.530C>TSubstitution - Missense
CECR2ENSG00000099954ENST00000262608p.R578Qc.1733G>ASubstitution - Missense
CYP27A1ENSG00000135929ENST00000258415p.V238Mc.712G>ASubstitution - Missense
WDR55ENSG00000120314ENST00000358337p.K341fs*8c.1015delADeletion - Frameshift
OPTNENSG00000123240ENST00000263036p.H26fs*19c.70delCDeletion - Frameshift
MMACHCENSG00000132763ENST00000401061p.P260Sc.778C>TSubstitution - Missense
DYNC1H1ENSG00000197102ENST00000360184p.F161fs*52c.477delTDeletion - Frameshift
ATXN2LENSG00000168488ENST00000336783p.Q1002fs*50c.2992delGDeletion - Frameshift
SMCHD1ENSG00000101596ENST00000261598p.K680fs*3c.2035delADeletion - Frameshift
ATAD2ENSG00000156802ENST00000287394p.P924Sc.2770C>TSubstitution - Missense
LRRC6ENSG00000129295ENST00000250173p.K282fs*4c.845delADeletion - Frameshift
NOL8ENSG00000198000ENST00000442668p.K176Rc.527A>GSubstitution - Missense
CCDC112ENSG00000164221ENST00000379611p.Q376fs*2c.1126delCDeletion - Frameshift
CCT6AENSG00000146731ENST00000275603p.Y250fs*14c.741_742insTInsertion - Frameshift
ENST00000303890p.A624Vc.1871C>TSubstitution - Missense
FLNCENSG00000128591ENST00000325888p.A2041Tc.6121G>ASubstitution - Missense
C6orf52ENSG00000137434ENST00000259983p.E145Kc.433G>ASubstitution - Missense
MYCBP2ENSG00000005810ENST00000360084p.D392Ec.1176T>ASubstitution - Missense
TFAP2DENSG00000008197ENST00000008391p.S73Fc.218C>TSubstitution - Missense
STAMBPL1ENSG00000138134ENST00000371927p.K405fs*22c.1207delADeletion - Frameshift
EIF4G3ENSG00000075151ENST00000374937p.P187Pc.561T>CSubstitution - coding silent
ESRRGENSG00000196482ENST00000408911p.M119Tc.356T>CSubstitution - Missense
ANKRD30AENSG00000148513ENST00000602533p.A1117Ac.3351T>CSubstitution - coding silent
ENST00000571252_v68p.P810Pc.2430G>ASubstitution - coding silent
FAT2ENSG00000086570ENST00000261800p.V1541Mc.4621G>ASubstitution - Missense
DCTN4ENSG00000132912ENST00000447998p.A99Vc.296C>TSubstitution - Missense
GABRA3ENSG00000011677ENST00000370314p.?c.931+2T>AUnknown
ATP2B3ENSG00000067842ENST00000263519p.H1071Yc.3211C>TSubstitution - Missense
PCDHA4ENSG00000204967ENST00000378125p.Y460Yc.1380T>CSubstitution - coding silent
SMARCD3ENSG00000082014ENST00000392811p.N281Nc.843C>TSubstitution - coding silent
L1CAMENSG00000198910ENST00000370060p.P454Lc.1361C>TSubstitution - Missense
PCDHA6ENSG00000081842ENST00000529310p.P563Tc.1687C>ASubstitution - Missense
SHPKENSG00000197417ENST00000225519p.V424Mc.1270G>ASubstitution - Missense
ZFPM2ENSG00000169946ENST00000407775p.Y784Yc.2352C>TSubstitution - coding silent
ABCA13ENSG00000179869ENST00000435803p.W3757*c.11271G>ASubstitution - Nonsense
ENST00000319379p.L3713fs*46c.11132_11133insTInsertion - Frameshift
ZFPM2ENSG00000169946ENST00000407775p.S116Rc.348T>ASubstitution - Missense
NFAT5ENSG00000102908ENST00000393742p.G1453Dc.4358G>ASubstitution - Missense
LRP12ENSG00000147650ENST00000276654p.H294Rc.881A>GSubstitution - Missense
HAS3ENSG00000103044ENST00000306560p.G147Dc.440G>ASubstitution - Missense
AZIN1ENSG00000155096ENST00000337198p.Y66Yc.198C>TSubstitution - coding silent
ANKRD24ENSG00000089847ENST00000262970p.E255Dc.765G>TSubstitution - Missense
URGCPENSG00000106608ENST00000223341p.G737*c.2209G>TSubstitution - Nonsense
AXLENSG00000167601ENST00000359092p.V351Mc.1051G>ASubstitution - Missense
CEACAM5ENSG00000105388ENST00000221992p.Y68Yc.204C>TSubstitution - coding silent
ANKRD7ENSG00000106013ENST00000357099p.L21Ic.61C>ASubstitution - Missense
FABP6ENSG00000170231ENST00000393980p.H102Rc.305A>GSubstitution - Missense
GPX5ENSG00000224586ENST00000412168p.V204Dc.611T>ASubstitution - Missense
RNF145ENSG00000145860ENST00000274542p.V576Mc.1726G>ASubstitution - Missense
ZNF112ENSG00000062370ENST00000337401p.I352Fc.1054A>TSubstitution - Missense
PAICSENSG00000128050ENST00000264221p.P208Tc.622C>ASubstitution - Missense
DPP6ENSG00000130226ENST00000332007p.I122Nc.365T>ASubstitution - Missense
PXDNENSG00000130508ENST00000252804p.E1364fs*40c.4090delGDeletion - Frameshift
CABIN1ENSG00000099991ENST00000398319p.Q1495*c.4483C>TSubstitution - Nonsense
MCF2ENSG00000101977ENST00000370573p.G205Vc.614G>TSubstitution - Missense
SLC7A4ENSG00000099960ENST00000382932p.L575Lc.1723C>TSubstitution - coding silent
TSC2ENSG00000103197ENST00000219476p.G1472Dc.4415G>ASubstitution - Missense
CPAMD8ENSG00000160111ENST00000291440p.T335Pc.1003A>CSubstitution - Missense
SLC27A1ENSG00000130304ENST00000252595p.G124Gc.372C>TSubstitution - coding silent
ATP1A3ENSG00000105409ENST00000302102p.L781Lc.2341C>TSubstitution - coding silent
PKP4ENSG00000144283ENST00000389759p.?c.2577+6A>GUnknown
EYA2ENSG00000064655ENST00000327619p.A153Sc.457G>TSubstitution - Missense
MIER3ENSG00000155545ENST00000381213p.I265Ic.795C>ASubstitution - coding silent
NM_006622p.?c.1384+9T>CUnknown
SNX18ENSG00000178996ENST00000326277p.E591Gc.1772A>GSubstitution - Missense
ANXA2RENSG00000177721ENST00000314890p.L144Lc.432T>CSubstitution - coding silent
MUTENSG00000146085ENST00000274813p.Y231Fc.692A>TSubstitution - Missense
TAP1ENSG00000168394ENST00000354258p.S476Nc.1427G>ASubstitution - Missense
KLHL31ENSG00000124743ENST00000370905p.Q447Qc.1341G>ASubstitution - coding silent
TTBK1ENSG00000146216ENST00000259750p.G415Cc.1243G>TSubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.R1819Lc.5456G>TSubstitution - Missense
EMR2ENSG00000127507ENST00000315576p.E486Ec.1458G>ASubstitution - coding silent
PHF20L1ENSG00000129292ENST00000395386p.G731Gc.2193T>ASubstitution - coding silent
SATB1ENSG00000182568ENST00000338745p.L528Lc.1584G>ASubstitution - coding silent
NCOA4ENSG00000138293ENST00000438493p.G457Vc.1370G>TSubstitution - Missense
SCN9AENSG00000169432ENST00000375387p.Q435Kc.1303C>ASubstitution - Missense
MAPKAP1ENSG00000119487ENST00000350766p.S128fs*28c.373_374insAInsertion - Frameshift
NAA16ENSG00000172766ENST00000379367p.G263Gc.789C>ASubstitution - coding silent
SPATA13ENSG00000182957ENST00000343003p.E336Ec.1008G>ASubstitution - coding silent
GRIP1ENSG00000155974ENST00000359742p.E46*c.136G>TSubstitution - Nonsense
ANO1ENSG00000131620ENST00000316296p.K43Kc.129G>ASubstitution - coding silent
DCHS1ENSG00000166341ENST00000299441p.V286Vc.858C>TSubstitution - coding silent
TRIM64CENSG00000214891ENST00000530230p.T372Sc.1114A>TSubstitution - Missense
CRTAC1ENSG00000095713ENST00000370591p.R346Cc.1036C>TSubstitution - Missense
ODF2LENSG00000122417ENST00000359242p.T172Tc.516T>GSubstitution - coding silent
RABGAP1LENSG00000152061ENST00000489615p.L250Lc.748C>TSubstitution - coding silent
PLOD1ENSG00000083444ENST00000376369p.E390Ec.1170G>ASubstitution - coding silent
SPOPLENSG00000144228ENST00000280098p.T6Ic.17C>TSubstitution - Missense
ENST00000319822p.M651Tc.1952T>CSubstitution - Missense
ITPR1ENSG00000150995ENST00000456211p.P2021Hc.6062C>ASubstitution - Missense
XM_371474.2p.T1021Sc.3061A>TSubstitution - Missense
SMARCC1ENSG00000173473ENST00000254480p.A69Tc.205G>ASubstitution - Missense
S100ZENSG00000171643ENST00000317593p.R18Rc.54C>ASubstitution - coding silent
MAPK11ENSG00000185386ENST00000449719p.V197Ic.589G>ASubstitution - Missense
NOXA1ENSG00000188747ENST00000341349p.?c.699-1G>TUnknown
NHSL2ENSG00000204131ENST00000540800p.P1008fs*44c.3014_3015insAInsertion - Frameshift
ATRXENSG00000085224ENST00000373344p.E328Ec.984A>GSubstitution - coding silent
IFNA4ENSG00000236637ENST00000421715p.F108Ic.322T>ASubstitution - Missense
ATRXENSG00000085224ENST00000373344p.S2379Nc.7136G>ASubstitution - Missense
ADAMTSL1ENSG00000178031ENST00000380548p.C1515Cc.4545C>TSubstitution - coding silent
POU3F4ENSG00000196767ENST00000373200p.L222Lc.664C>TSubstitution - coding silent
POU3F4ENSG00000196767ENST00000373200p.L222Lc.664C>TSubstitution - coding silent
MAGEE1ENSG00000198934ENST00000361470p.V873Mc.2617G>ASubstitution - Missense
GRIK2ENSG00000164418ENST00000369138p.S697Lc.2090C>TSubstitution - Missense
DACH2ENSG00000126733ENST00000373125p.K184Tc.551A>CSubstitution - Missense
VCANENSG00000038427ENST00000265077p.T1665Ic.4994C>TSubstitution - Missense
PCDH11XENSG00000102290ENST00000395337p.K180fs*22c.538delADeletion - Frameshift
LAMA1ENSG00000101680ENST00000389658p.N302Dc.904A>GSubstitution - Missense
TPPPENSG00000171368ENST00000360578p.E34Ec.102A>GSubstitution - coding silent
ENC1ENSG00000171617ENST00000302351p.H35Hc.105C>TSubstitution - coding silent
NR2F1ENSG00000175745ENST00000327111p.R366Cc.1096C>TSubstitution - Missense
CTNNAL1ENSG00000119326ENST00000325551p.T672Tc.2016A>CSubstitution - coding silent
CLVS2ENSG00000146352ENST00000275162p.?c.565-4C>AUnknown
CLVS2ENSG00000146352ENST00000275162p.?c.565-4C>AUnknown
TRPS1ENSG00000104447ENST00000395715p.C909fs*42c.2719_2720insTInsertion - Frameshift
COL9A1ENSG00000112280ENST00000357250p.G697Gc.2091A>TSubstitution - coding silent
FAM26DENSG00000164451ENST00000368597p.H53Hc.159C>TSubstitution - coding silent
PLA2G6ENSG00000184381ENST00000332509p.R132Cc.394C>TSubstitution - Missense
TFAP2AENSG00000137203ENST00000379608p.S179Sc.537C>ASubstitution - coding silent
KHDRBS2ENSG00000112232ENST00000281156p.L178Lc.534A>GSubstitution - coding silent
WASF1ENSG00000112290ENST00000392586p.Y250Nc.748T>ASubstitution - Missense
FBN2ENSG00000138829ENST00000508053p.C2599Cc.7797C>TSubstitution - coding silent
OTUD4ENSG00000164164ENST00000454497p.S765Pc.2293T>CSubstitution - Missense
SEL1L3ENSG00000091490ENST00000399878p.C341Yc.1022G>ASubstitution - Missense
TEX10ENSG00000136891ENST00000374902p.E380Ec.1140G>ASubstitution - coding silent
PALM2-AKAP2ENSG00000157654ENST00000374530p.G364Gc.1092C>TSubstitution - coding silent
KIAA1958ENSG00000165185ENST00000337530p.P324Pc.972C>ASubstitution - coding silent
COL14A1ENSG00000187955ENST00000297848p.?c.5078-10T>GUnknown
COL15A1ENSG00000204291ENST00000375001p.T81Ac.241A>GSubstitution - Missense
PPP1R26ENSG00000196422ENST00000356818p.N256Nc.768T>CSubstitution - coding silent
NBR1ENSG00000188554ENST00000422280p.?c.103-1G>AUnknown
KRT15ENSG00000171346ENST00000393976p.Q362Hc.1086G>TSubstitution - Missense
CCDC43ENSG00000180329ENST00000315286p.E221fs*>4c.657_658delAGDeletion - Frameshift
COILENSG00000121058ENST00000240316p.G100Gc.300T>CSubstitution - coding silent
METTL3ENSG00000165819ENST00000377543p.S564Sc.1692C>TSubstitution - coding silent
TOB1ENSG00000141232ENST00000499247p.S195Ic.584G>TSubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.V608Ec.1823T>ASubstitution - Missense
ARHGAP26ENSG00000145819ENST00000274498p.L663Pc.1988T>CSubstitution - Missense
USP13ENSG00000058056ENST00000263966p.M90Kc.269T>ASubstitution - Missense
ENST00000573521_v68p.G468Cc.1402G>TSubstitution - Missense
CATSPERGENSG00000099338ENST00000312265p.?c.1477-10C>AUnknown
YIPF5ENSG00000145817ENST00000274496p.T107fs*18c.313_314insAInsertion - Frameshift
ZNF529ENSG00000186020ENST00000334116p.N198fs*3c.593_594insAInsertion - Frameshift
ZNF570ENSG00000171827ENST00000330173p.D18Yc.52G>TSubstitution - Missense
LARSENSG00000133706ENST00000394434p.G502Rc.1504G>ASubstitution - Missense
GRXCR2ENSG00000204928ENST00000377976p.K33Kc.99G>ASubstitution - coding silent
NLE1ENSG00000073536ENST00000442241p.R237Cc.709C>TSubstitution - Missense
CTGFENSG00000118523ENST00000367976p.M194Vc.580A>GSubstitution - Missense
PDE7BENSG00000171408ENST00000446774p.?c.263-3C>TUnknown
C17orf102ENSG00000197322ENST00000357754p.R32Rc.96T>CSubstitution - coding silent
SYNCRIPENSG00000135316ENST00000355238p.A538Vc.1613C>TSubstitution - Missense
RAP1GDS1ENSG00000138698ENST00000453712p.L603Fc.1807C>TSubstitution - Missense
FBXO30ENSG00000118496ENST00000237281p.T275Ic.824C>TSubstitution - Missense
MTHFD1LENSG00000120254ENST00000367321p.?c.780+2T>CUnknown
ANK2ENSG00000145362ENST00000357077p.K3065Rc.9194A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.Q2747Hc.8241G>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.Q7764Qc.23292G>ASubstitution - coding silent
SYNJ2ENSG00000078269ENST00000355585p.P1114fs*48c.3338_3339insCInsertion - Frameshift
PLK4ENSG00000142731ENST00000270861p.A518Vc.1553C>TSubstitution - Missense
GPR97ENSG00000182885ENST00000333493p.E549Dc.1647A>TSubstitution - Missense
PLA2G15ENSG00000103066ENST00000219345p.K366Nc.1098G>TSubstitution - Missense
DROSHAENSG00000113360ENST00000511367p.R20Qc.59G>ASubstitution - Missense
ADAMTS12ENSG00000151388ENST00000515401p.V14Ac.41T>CSubstitution - Missense
IL1AENSG00000115008ENST00000263339p.Y233*c.699T>GSubstitution - Nonsense
ENST00000381114p.P1307Hc.3920C>ASubstitution - Missense
ENST00000381114p.A659Vc.1976C>TSubstitution - Missense
MAP3K4ENSG00000085511ENST00000392142p.K1372Kc.4116A>GSubstitution - coding silent
AGPAT4ENSG00000026652ENST00000320285p.L260Lc.778C>TSubstitution - coding silent
AGPAT4ENSG00000026652ENST00000366905p.C125fs*31c.372delCDeletion - Frameshift
SYNE1ENSG00000131018ENST00000423061p.E4667fs*34c.13998_13999insAInsertion - Frameshift
MTRF1LENSG00000112031ENST00000367233p.I324fs*5c.966_967insAInsertion - Frameshift
OPRM1ENSG00000112038ENST00000434900p.T101fs*8c.295_296insCInsertion - Frameshift
OPRM1ENSG00000112038ENST00000229768p.T8fs*8c.16_17insCInsertion - Frameshift
OPRM1ENSG00000112038ENST00000360422p.T8fs*8c.16_17insCInsertion - Frameshift
SERPINE2ENSG00000135919ENST00000447280p.V384Ic.1150G>ASubstitution - Missense
ALPPENSG00000163283ENST00000392027p.N417Nc.1251C>TSubstitution - coding silent
IRS1ENSG00000169047ENST00000305123p.G1127fs*12c.3380delGDeletion - Frameshift
NM_005689.1p.E722Kc.2164G>ASubstitution - Missense
ABCB1ENSG00000085563ENST00000265724p.N1163Sc.3488A>GSubstitution - Missense
ZNF804BENSG00000182348ENST00000333190p.I983fs*6c.2947_2948insAInsertion - Frameshift
BEND2ENSG00000177324ENST00000380033p.N235Yc.703A>TSubstitution - Missense
PLXNA3ENSG00000130827ENST00000369682p.V171Ic.511G>ASubstitution - Missense
PLXNA3ENSG00000130827ENST00000369682p.G850Gc.2550G>CSubstitution - coding silent
CLIP2ENSG00000106665ENST00000223398p.?c.679-4A>GUnknown
NM_001371.1p.L3315Lc.9943C>TSubstitution - coding silent
ENST00000394167p.K670Rc.2009A>GSubstitution - Missense
MEA1ENSG00000124733ENST00000244711p.L105fs*8c.312delGDeletion - Frameshift
SEC61A1ENSG00000058262ENST00000243253p.L293Mc.877C>ASubstitution - Missense
TCF20ENSG00000100207ENST00000359486p.Q1580fs*32c.4730_4731insAInsertion - Frameshift
ZXDCENSG00000070476ENST00000336332p.H466Lc.1397A>TSubstitution - Missense
COL6A6ENSG00000206384ENST00000358511p.K74Nc.222A>TSubstitution - Missense
EFCAB6ENSG00000186976ENST00000262726p.S388Yc.1163C>ASubstitution - Missense
PKDREJENSG00000130943ENST00000253255p.N1302Dc.3904A>GSubstitution - Missense
SREBF2ENSG00000198911ENST00000361204p.Q972Hc.2916G>TSubstitution - Missense
PLXND1ENSG00000004399ENST00000324093p.?c.5586+1G>AUnknown
PSME4ENSG00000068878ENST00000404125p.?c.383+5G>AUnknown
ZNF43ENSG00000198521ENST00000354959p.S143Sc.429C>TSubstitution - coding silent
SIX5ENSG00000177045ENST00000317578p.T692Ic.2075C>TSubstitution - Missense
GTF3C1ENSG00000077235ENST00000356183p.S465Sc.1395G>ASubstitution - coding silent
ZNF541ENSG00000118156ENST00000391901p.A1283Vc.3848C>TSubstitution - Missense
ATXN2LENSG00000168488ENST00000336783p.P715Sc.2143C>TSubstitution - Missense
CCDC101ENSG00000176476ENST00000317058p.?c.419+5G>AUnknown
ENST00000396750p.V13Vc.39G>ASubstitution - coding silent
TUBA3DENSG00000075886ENST00000321253p.C20Yc.59G>ASubstitution - Missense
ENST00000427965p.R416Rc.1248C>ASubstitution - coding silent
UBR2ENSG00000024048ENST00000372903p.E256fs*9c.761delADeletion - Frameshift
WNK3ENSG00000196632ENST00000354646p.Q1720Qc.5160A>GSubstitution - coding silent
PNPLA4ENSG00000006757ENST00000381042p.P226fs*>28c.677delCDeletion - Frameshift
KLF8ENSG00000102349ENST00000468660p.G197Gc.591C>ASubstitution - coding silent
CDX4ENSG00000131264ENST00000373514p.V101Mc.301G>ASubstitution - Missense
MSNENSG00000147065ENST00000360270p.V9Mc.25G>ASubstitution - Missense
KCNN1ENSG00000105642ENST00000222249p.H492Yc.1474C>TSubstitution - Missense
ZBED2ENSG00000177494ENST00000317012p.H106Rc.317A>GSubstitution - Missense
SLC35A5ENSG00000138459ENST00000492406p.F186fs*52c.553delTDeletion - Frameshift
SETD7ENSG00000145391ENST00000274031p.E254Ec.762G>ASubstitution - coding silent
DNAH1ENSG00000114841ENST00000420323p.Y3843fs*53c.11523delCDeletion - Frameshift
SLC17A3ENSG00000124564ENST00000360657p.?c.479-1G>TUnknown
OSBPL6ENSG00000079156ENST00000190611p.T750Nc.2249C>ASubstitution - Missense
ABHD12ENSG00000100997ENST00000376542p.V192Ac.575T>CSubstitution - Missense
ENST00000400522_v68p.T68Ac.202A>GSubstitution - Missense
GP6ENSG00000088053ENST00000310373p.G53Gc.159C>TSubstitution - coding silent
ALPK2ENSG00000198796ENST00000361673p.E1799Dc.5397A>CSubstitution - Missense
SEH1LENSG00000085415ENST00000399892p.P401Hc.1202C>ASubstitution - Missense
CEP192ENSG00000101639ENST00000325971p.V295Vc.885T>CSubstitution - coding silent
DNMT3BENSG00000088305ENST00000201963p.?c.850-4T>CUnknown
DCCENSG00000187323ENST00000442544p.L534Lc.1602G>ASubstitution - coding silent
ZC2HC1AENSG00000104427ENST00000263849p.?c.812+10G>AUnknown
STAU2ENSG00000040341ENST00000524300p.P34Lc.101C>TSubstitution - Missense
PAG1ENSG00000076641ENST00000220597p.A315Sc.943G>TSubstitution - Missense
TCEB3CL2ENSG00000266996ENST00000591973p.R377Cc.1129C>TSubstitution - Missense
NCOA1ENSG00000084676ENST00000405141p.?c.2718-3C>TUnknown
ATG4BENSG00000168397ENST00000404914p.I61Sc.182T>GSubstitution - Missense
ZAP70ENSG00000115085ENST00000264972p.E343Gc.1028A>GSubstitution - Missense
NM_003319p.I5254Mc.15762A>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.I23477Nc.70430T>ASubstitution - Missense
NM_003319p.I23352Nc.70055T>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.M25125Ic.75375G>ASubstitution - Missense
NM_003319p.S19572Ic.58715G>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.R16006Gc.48016A>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.S15443Sc.46329G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342175p.D6386Dc.19158C>TSubstitution - coding silent
MICAL3ENSG00000243156ENST00000429452p.E194Gc.581A>GSubstitution - Missense
NM_003319p.N16570fs*5c.49703_49704insAInsertion - Frameshift
ZNF205ENSG00000122386ENST00000219091p.A248Tc.742G>ASubstitution - Missense
ZNF646ENSG00000167395ENST00000300850p.R301fs*51c.897delCDeletion - Frameshift
ENST00000398617p.C146Fc.437G>TSubstitution - Missense
MYLK3ENSG00000140795ENST00000394809p.R163Rc.489A>TSubstitution - coding silent
ZNF480ENSG00000198464ENST00000335090p.Y268Hc.802T>CSubstitution - Missense
ALS2ENSG00000003393ENST00000264276p.S872Rc.2616T>ASubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.S1222Ic.3665G>TSubstitution - Missense
PARD3BENSG00000116117ENST00000351153p.N414fs*70c.1241_1242insAInsertion - Frameshift
ANKMY1ENSG00000144504ENST00000391987p.A289Tc.865G>ASubstitution - Missense
D2HGDHENSG00000180902ENST00000321264p.A384Vc.1151C>TSubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.K1371Kc.4113G>ASubstitution - coding silent
FAM179AENSG00000189350ENST00000379558p.A629Tc.1885G>ASubstitution - Missense
LAMA5ENSG00000130702ENST00000252999p.P3332fs*54c.9995delCDeletion - Frameshift
VN1R4ENSG00000228567ENST00000311170p.I216Nc.647T>ASubstitution - Missense
MBOAT7ENSG00000125505ENST00000245615p.G391Dc.1172G>ASubstitution - Missense
ISXENSG00000175329ENST00000308700p.I33Vc.97A>GSubstitution - Missense
MANBAENSG00000109323ENST00000226578p.?c.1704+4A>GUnknown
SLC4A7ENSG00000033867ENST00000295736p.I652Vc.1954A>GSubstitution - Missense
GCKRENSG00000084734ENST00000264717p.?c.869+8G>TUnknown
KIAA0226ENSG00000145016ENST00000273582p.M468Ic.1404G>ASubstitution - Missense
SU_NEK10p.G957Ec.2870G>ASubstitution - Missense
PDIA6ENSG00000143870ENST00000272227p.A348Ac.1044G>ASubstitution - coding silent
GAGE10ENSG00000215274ENST00000407599p.E21fs*1c.59_60insCInsertion - Frameshift
KCNJ2ENSG00000123700ENST00000243457p.V126fs*18c.375delGDeletion - Frameshift
CXorf67ENSG00000187690ENST00000342995p.P388Lc.1163C>TSubstitution - Missense
GRIPAP1ENSG00000068400ENST00000376441p.S738Sc.2214C>ASubstitution - coding silent
TMEM102ENSG00000181284ENST00000396568p.P15Pc.45G>ASubstitution - coding silent
ZNF606ENSG00000166704ENST00000341164p.S722Sc.2166C>TSubstitution - coding silent
CCSER1ENSG00000184305ENST00000509176p.R112Kc.335G>ASubstitution - Missense
PTPN13ENSG00000163629ENST00000436978p.Q1647fs*13c.4932_4933insAInsertion - Frameshift
P2RY14ENSG00000174944ENST00000309170p.F48Ic.142T>ASubstitution - Missense
CYP26B1ENSG00000003137ENST00000001146p.V181Mc.541G>ASubstitution - Missense
ADD2ENSG00000075340ENST00000355733p.L152Lc.454C>TSubstitution - coding silent
CDO1ENSG00000129596ENST00000250535p.S158Rc.474T>ASubstitution - Missense
SCN5AENSG00000183873ENST00000333535p.P79Hc.236C>ASubstitution - Missense
ENST00000233310p.E566Gc.1697A>GSubstitution - Missense
PECRENSG00000115425ENST00000265322p.F245Lc.735C>ASubstitution - Missense
SU_WNK2p.H915fs*7c.2738delCDeletion - Frameshift
WNK2ENSG00000165238ENST00000297954p.P1030Pc.3090C>ASubstitution - coding silent
COL4A6ENSG00000197565ENST00000394872p.G180Gc.540C>TSubstitution - coding silent
MYBL1ENSG00000185697ENST00000522677p.A562Vc.1685C>TSubstitution - Missense
FBN3ENSG00000142449ENST00000270509p.V2742Vc.8226C>TSubstitution - coding silent
NM_016521.2p.N9Dc.25A>GSubstitution - Missense
GPC4ENSG00000076716ENST00000370828p.?c.1008+3A>GUnknown
KIR3DL3ENSG00000242019ENST00000291860p.R345Hc.1034G>ASubstitution - Missense
ZNF724PENSG00000196081ENST00000418100p.H192Yc.574C>TSubstitution - Missense
LINGO3ENSG00000220008ENST00000404279p.R105Cc.313C>TSubstitution - Missense
LENG8ENSG00000167615ENST00000326764p.N281fs*13c.836delGDeletion - Frameshift
PNKPENSG00000039650ENST00000322344p.V287Mc.859G>ASubstitution - Missense
ZNF98ENSG00000197360ENST00000357774p.D93Ec.279C>GSubstitution - Missense
COX10ENSG00000006695ENST00000261643p.I127Ic.381T>CSubstitution - coding silent
FRMPD3ENSG00000147234ENST00000276185p.L1805Lc.5415A>GSubstitution - coding silent
RECQL5ENSG00000108469ENST00000584999p.F26Fc.78T>CSubstitution - coding silent
RAI1ENSG00000108557ENST00000353383p.V1333Ac.3998T>CSubstitution - Missense
ZNFX1ENSG00000124201ENST00000371754p.R377*c.1129C>TSubstitution - Nonsense
ZNFX1ENSG00000124201ENST00000455070p.R181*c.541C>TSubstitution - Nonsense
GRM8ENSG00000179603ENST00000339582p.H720fs*5c.2158_2159insCInsertion - Frameshift
PROKR2ENSG00000101292ENST00000217270p.R248Qc.743G>ASubstitution - Missense
ZNFX1ENSG00000124201ENST00000371752p.C1341Yc.4022G>ASubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.P597Qc.1790C>ASubstitution - Missense
DOCK5ENSG00000147459ENST00000276440p.L1659Pc.4976T>CSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.N2812Sc.8435A>GSubstitution - Missense
FAM19A4ENSG00000163377ENST00000295569p.I48Tc.143T>CSubstitution - Missense
FLNBENSG00000136068ENST00000490882p.R999Wc.2995C>TSubstitution - Missense
KIF13BENSG00000197892ENST00000524189p.L884Pc.2651T>CSubstitution - Missense
KIF13BENSG00000197892ENST00000524189p.Q864Hc.2592G>TSubstitution - Missense
EXOC4ENSG00000131558ENST00000253861p.L104Lc.312G>ASubstitution - coding silent
ALDH1B1ENSG00000137124ENST00000377698p.H479Hc.1437C>TSubstitution - coding silent
PRSS3ENSG00000010438ENST00000379405p.A90Tc.268G>ASubstitution - Missense
CCDC136ENSG00000128596ENST00000297788p.L342Lc.1026G>ASubstitution - coding silent
HGSENSG00000185359ENST00000329138p.?c.469-1G>TUnknown
NM_031968.1p.?c.521-8C>AUnknown
TMIGD1ENSG00000182271ENST00000328886p.V87Ic.259G>ASubstitution - Missense
DSC3ENSG00000134762ENST00000360428p.G699Sc.2095G>ASubstitution - Missense
MAPK7ENSG00000166484ENST00000308406p.A658Vc.1973C>TSubstitution - Missense
MED13ENSG00000108510ENST00000397786p.L1283Pc.3848T>CSubstitution - Missense
TRMT1ENSG00000104907ENST00000357720p.G649fs*>12c.1936_1937insCInsertion - Frameshift
ENST00000360228_v70p.E1784Gc.5351A>GSubstitution - Missense
KIDINS220ENSG00000134313ENST00000256707p.P1750Pc.5250G>ASubstitution - coding silent
ENDOVENSG00000173818ENST00000323854p.P73Tc.217C>ASubstitution - Missense
CABYRENSG00000154040ENST00000399496p.?c.146-4T>GUnknown
ENST00000411702p.?c.3049-3C>TUnknown
C21orf91ENSG00000154642ENST00000284881p.E200fs*6c.591_592insAInsertion - Frameshift
PHKBENSG00000102893ENST00000323584p.S1040Rc.3120T>ASubstitution - Missense
LMCD1ENSG00000071282ENST00000157600p.D89fs*11c.262delGDeletion - Frameshift
TADA2BENSG00000173011ENST00000310074p.H279Yc.835C>TSubstitution - Missense
NLRC5ENSG00000140853ENST00000262510p.V391fs*45c.1170delGDeletion - Frameshift
NLRC5ENSG00000140853ENST00000262510p.G450fs*105c.1346_1347insCInsertion - Frameshift
NM_032217.3p.L1237Lc.3709C>TSubstitution - coding silent
PAPD5ENSG00000121274ENST00000436909p.K327Ec.979A>GSubstitution - Missense
POLR2CENSG00000102978ENST00000219252p.E207Ec.621G>ASubstitution - coding silent
OGFOD1ENSG00000087263ENST00000566157p.K17fs*6c.45delADeletion - Frameshift
ARL5CENSG00000141748ENST00000269586p.E16Dc.48G>TSubstitution - Missense
PDE9AENSG00000160191ENST00000291539p.V328Ic.982G>ASubstitution - Missense
KDM1BENSG00000165097ENST00000297792p.P22Hc.65C>ASubstitution - Missense
GRB7ENSG00000141738ENST00000309156p.P269Lc.806C>TSubstitution - Missense
LIMCH1ENSG00000064042ENST00000503057p.A119Ac.357C>ASubstitution - coding silent
MTUS1ENSG00000129422ENST00000297488p.L250Fc.748C>TSubstitution - Missense
RNASET2ENSG00000026297ENST00000508775p.Q194*c.580C>TSubstitution - Nonsense
KIF13AENSG00000137177ENST00000259711p.N1439Nc.4317T>CSubstitution - coding silent
UEVLDENSG00000151116ENST00000543987p.G221*c.661G>TSubstitution - Nonsense
KCNT2ENSG00000162687ENST00000294725p.L116Lc.348G>ASubstitution - coding silent
MTORENSG00000198793ENST00000361445p.G2238Dc.6713G>ASubstitution - Missense
COMMD3ENSG00000148444ENST00000376836p.H61Hc.183T>CSubstitution - coding silent
SNRPEENSG00000182004ENST00000414487p.V33Ac.98T>CSubstitution - Missense
CCDC90BENSG00000137500ENST00000529689p.E55*c.163G>TSubstitution - Nonsense
PPFIA4ENSG00000143847ENST00000272198p.D6Dc.18C>TSubstitution - coding silent
TRIM49CENSG00000204449ENST00000448984p.W331*c.993G>ASubstitution - Nonsense
SLC36A4ENSG00000180773ENST00000326402p.L159fs*10c.468_469insTInsertion - Frameshift
TMEM41BENSG00000166471ENST00000299596p.I231fs*16c.690_691insTInsertion - Frameshift
VPS37BENSG00000139722ENST00000267202p.R246fs*>41c.729_730insCInsertion - Frameshift
PDE4DIPENSG00000178104ENST00000313382p.L577Lc.1731T>CSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313431p.D258Dc.774T>CSubstitution - coding silent
PKP1ENSG00000081277ENST00000263946p.E418Vc.1253A>TSubstitution - Missense
PLA2G5ENSG00000127472ENST00000375108p.S85Yc.254C>ASubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.P370Ac.1108C>GSubstitution - Missense
ZNF609ENSG00000180357ENST00000326648p.N941Nc.2823C>TSubstitution - coding silent
OTX2ENSG00000165588ENST00000339475p.R102Rc.306C>TSubstitution - coding silent
TTC39AENSG00000085831ENST00000371750p.T477Tc.1431G>ASubstitution - coding silent
RALGAPA1ENSG00000174373ENST00000307138p.N1861fs*29c.5575_5576insAInsertion - Frameshift
RALGAPA1ENSG00000174373ENST00000389698p.N1861fs*29c.5575_5576insAInsertion - Frameshift
BCL11BENSG00000127152ENST00000357195p.A204Tc.610G>ASubstitution - Missense
ARHGAP5ENSG00000100852ENST00000345122p.A722Tc.2164G>ASubstitution - Missense
MAST2ENSG00000086015ENST00000361297p.L1555Lc.4665G>ASubstitution - coding silent
PYGLENSG00000100504ENST00000216392p.Y158Yc.474C>TSubstitution - coding silent
NKX2-1ENSG00000136352ENST00000498187p.W371*c.1113G>ASubstitution - Nonsense
MIPOL1ENSG00000151338ENST00000327441p.N372fs*24c.1110delADeletion - Frameshift
DNTTIP2ENSG00000067334ENST00000436063p.T428Mc.1283C>TSubstitution - Missense
RAI14ENSG00000039560ENST00000265109p.P406Sc.1216C>TSubstitution - Missense
LMBRD2ENSG00000164187ENST00000296603p.A86Gc.257C>GSubstitution - Missense
INO80ENSG00000128908ENST00000361937p.Q1236*c.3706C>TSubstitution - Nonsense
UGT3A1ENSG00000145626ENST00000333811p.S238fs*12c.711delCDeletion - Frameshift
ARID4AENSG00000032219ENST00000355431p.A817Tc.2449G>ASubstitution - Missense
PIF1ENSG00000140451ENST00000268043p.R571Sc.1711C>ASubstitution - Missense
TSHRENSG00000165409ENST00000541158p.I698Ic.2094C>ASubstitution - coding silent
SERPINA1ENSG00000197249ENST00000440909p.D226Vc.677A>TSubstitution - Missense
VWA9ENSG00000138614ENST00000395644p.V5Mc.13G>ASubstitution - Missense
SLC24A1ENSG00000074621ENST00000261892p.V533Ac.1598T>CSubstitution - Missense
MCOLN2ENSG00000153898ENST00000370608p.?c.77+6G>AUnknown
CLCA2ENSG00000137975ENST00000370565p.K547Nc.1641A>TSubstitution - Missense
SERBP1ENSG00000142864ENST00000370995p.G149Dc.446G>ASubstitution - Missense
PTGER3ENSG00000050628ENST00000356595p.A176Tc.526G>ASubstitution - Missense
CHAMP1ENSG00000198824ENST00000361283p.G722Cc.2164G>TSubstitution - Missense
CCDC18ENSG00000122483ENST00000334652p.A967Vc.2900C>TSubstitution - Missense
NM_014363.3p.V2032Ic.6094G>ASubstitution - Missense
KLHL36ENSG00000135686ENST00000564996p.A123Vc.368C>TSubstitution - Missense
ENO3ENSG00000108515ENST00000323997p.E10fs*36c.28_29insGInsertion - Frameshift
ITGA3ENSG00000005884ENST00000320031p.T658Mc.1973C>TSubstitution - Missense
CNTNAP4ENSG00000152910ENST00000478060p.C649fs*11c.1944_1945insAInsertion - Frameshift
RCC1ENSG00000180198ENST00000398958p.C247Sc.740G>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S281Sc.843T>CSubstitution - coding silent
XRN2ENSG00000088930ENST00000377191p.G703Dc.2108G>ASubstitution - Missense
IFI44ENSG00000137965ENST00000370747p.S172Tc.514T>ASubstitution - Missense
PKN2ENSG00000065243ENST00000370521p.R649Kc.1946G>ASubstitution - Missense
DDAH1ENSG00000153904ENST00000284031p.I188Ic.564T>CSubstitution - coding silent
UBXN2BENSG00000215114ENST00000399598p.G178*c.532G>TSubstitution - Nonsense
ENST00000356127p.V6699Ac.20096T>CSubstitution - Missense
ENST00000356127p.D781Ec.2343T>ASubstitution - Missense
TTNENSG00000155657ENST00000360870p.D4225Yc.12673G>TSubstitution - Missense
ZNF804AENSG00000170396ENST00000302277p.K1043Nc.3129A>TSubstitution - Missense
CCNYL1ENSG00000163249ENST00000392209p.E253Kc.757G>ASubstitution - Missense
SSTR4ENSG00000132671ENST00000255008p.S99Sc.297C>TSubstitution - coding silent
ENST00000356127p.E1071Vc.3212A>TSubstitution - Missense
INO80DENSG00000114933ENST00000403263p.R657Wc.1969C>TSubstitution - Missense
INF2ENSG00000203485ENST00000392634p.V530fs*28c.1581delCDeletion - Frameshift
DTX4ENSG00000110042ENST00000227451p.G244Cc.730G>TSubstitution - Missense
CHST15ENSG00000182022ENST00000421115p.Q424Qc.1272G>ASubstitution - coding silent
ENST00000300053p.R274Cc.820C>TSubstitution - Missense
TMC3ENSG00000188869ENST00000359440p.T266Ic.797C>TSubstitution - Missense
HOMER2ENSG00000103942ENST00000304231p.I185Nc.554T>ASubstitution - Missense
STPG1ENSG00000001460ENST00000003583p.P103Lc.308C>TSubstitution - Missense
PLEKHS1ENSG00000148735ENST00000369312p.T109Ac.325A>GSubstitution - Missense
KCNK18ENSG00000186795ENST00000334549p.C111Fc.332G>TSubstitution - Missense
ENST00000368915p.L236Lc.706C>TSubstitution - coding silent
HALENSG00000084110ENST00000261208p.P652Pc.1956G>ASubstitution - coding silent
ANO1ENSG00000131620ENST00000355303p.K71Kc.213G>ASubstitution - coding silent
A2MENSG00000175899ENST00000318602p.T548Tc.1644C>TSubstitution - coding silent
ENST00000342887p.R54Cc.160C>TSubstitution - Missense
ENST00000350997_v71p.?c.787-2A>GUnknown
CCDC27ENSG00000162592ENST00000294600p.L44Ic.130C>ASubstitution - Missense
SORCS1ENSG00000108018ENST00000263054p.S850Sc.2550C>TSubstitution - coding silent
MUC19ENSG00000205592ENST00000425730p.Y300Yc.900C>TSubstitution - coding silent
SH3PXD2AENSG00000107957ENST00000355946p.H110fs*6c.321_322insCInsertion - Frameshift
STAB2ENSG00000136011ENST00000388887p.R44Lc.131G>TSubstitution - Missense
SU_LRRK2p.N1489Nc.4467T>CSubstitution - coding silent
SCYL2ENSG00000136021ENST00000360820p.S578Rc.1732A>CSubstitution - Missense
MUC19ENSG00000205592ENST00000425730p.K52fs*126c.148delADeletion - Frameshift
E2F2ENSG00000007968ENST00000361729p.K122fs*24c.363delCDeletion - Frameshift
DDR2ENSG00000162733ENST00000367922p.G502Gc.1506C>TSubstitution - coding silent
FAM131CENSG00000185519ENST00000375662p.?c.175-6C>AUnknown
COPAENSG00000122218ENST00000368069p.?c.843-10C>TUnknown
ARHGEF16ENSG00000130762ENST00000413250p.T341Sc.1022C>GSubstitution - Missense
HSPH1ENSG00000120694ENST00000320027p.Q686*c.2056C>TSubstitution - Nonsense
SCYL3ENSG00000000457ENST00000367772p.K669Kc.2007A>GSubstitution - coding silent
ATP13A2ENSG00000159363ENST00000326735p.V340Lc.1018G>TSubstitution - Missense
ZNF362ENSG00000160094ENST00000373428p.K189fs*42c.564_565insCInsertion - Frameshift
CLSPNENSG00000092853ENST00000318121p.R609Kc.1826G>ASubstitution - Missense
MTMR11ENSG00000014914ENST00000369140p.R159fs*61c.475delCDeletion - Frameshift
KLC2ENSG00000174996ENST00000394067p.H234Hc.702C>TSubstitution - coding silent
JMJD1CENSG00000171988ENST00000399262p.D560fs*10c.1677delADeletion - Frameshift
CCKBRENSG00000110148ENST00000525462p.L405Pc.1214T>CSubstitution - Missense
INSCENSG00000188487ENST00000379554p.A406Ac.1218C>ASubstitution - coding silent
SV2BENSG00000185518ENST00000394232p.G247fs*48c.736delGDeletion - Frameshift
IGSF3ENSG00000143061ENST00000369483p.N687Sc.2060A>GSubstitution - Missense
FAM46CENSG00000183508ENST00000369448p.R256Rc.768G>ASubstitution - coding silent
HPDLENSG00000186603ENST00000334815p.L330Lc.990T>CSubstitution - coding silent
BCL7AENSG00000110987ENST00000538010p.S164Nc.491G>ASubstitution - Missense
ZNF684ENSG00000117010ENST00000372699p.T154Sc.460A>TSubstitution - Missense
RNFT2ENSG00000135119ENST00000257575p.I160Nc.479T>ASubstitution - Missense
ZNF106ENSG00000103994ENST00000263805p.N1036fs*2c.3107_3108insAInsertion - Frameshift
EHD4ENSG00000103966ENST00000220325p.P526Sc.1576C>TSubstitution - Missense
CAPN3ENSG00000092529ENST00000397163p.T3Tc.9C>TSubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.S1787Lc.5360C>TSubstitution - Missense
ENST00000395900p.K26Kc.78G>ASubstitution - coding silent
CXCR5ENSG00000160683ENST00000292174p.V155Ic.463G>ASubstitution - Missense
OGDHLENSG00000197444ENST00000374103p.D631Gc.1892A>GSubstitution - Missense
ENST00000426033p.L1708Lc.5124G>ASubstitution - coding silent
HEATR4ENSG00000187105ENST00000334988p.V326Ac.977T>CSubstitution - Missense
C10orf71ENSG00000177354ENST00000374144p.S631Sc.1893C>TSubstitution - coding silent
ERCC6ENSG00000225830ENST00000355832p.L1427Fc.4279C>TSubstitution - Missense
BLMENSG00000197299ENST00000355112p.F663fs*5c.1980_1981insAInsertion - Frameshift
CITENSG00000122966ENST00000392521p.Q1015Hc.3045A>TSubstitution - Missense
GPR158ENSG00000151025ENST00000376351p.T820Tc.2460T>GSubstitution - coding silent
ANKRD26ENSG00000107890ENST00000376070p.?c.2887-1766_3332del5002Unknown
RBM25ENSG00000119707ENST00000261973p.V684Mc.2050G>ASubstitution - Missense
HMBSENSG00000256269ENST00000278715p.?c.771+8C>AUnknown
TDRD5ENSG00000162782ENST00000367614p.L336Ic.1006T>ASubstitution - Missense
CD163ENSG00000177575ENST00000359156p.L1057Ic.3169C>ASubstitution - Missense
SGPL1ENSG00000166224ENST00000299297p.K77Nc.231G>TSubstitution - Missense
NKAIN2ENSG00000188580ENST00000368416p.E23Ec.69G>ASubstitution - coding silent
ZNF300ENSG00000145908ENST00000446148p.K437Kc.1311G>ASubstitution - coding silent
SLIT3ENSG00000184347ENST00000404867p.R231Qc.692G>ASubstitution - Missense
RNF165ENSG00000141622ENST00000269439p.S229Nc.686G>ASubstitution - Missense
ATAD2BENSG00000119778ENST00000238789p.P662Sc.1984C>TSubstitution - Missense
MAP3K15ENSG00000180815ENST00000338883p.D1270Vc.3809A>TSubstitution - Missense
ATP11CENSG00000101974ENST00000370543p.I495Ic.1485C>TSubstitution - coding silent
COL9A1ENSG00000112280ENST00000370499p.G454Gc.1362A>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000341594p.S5531Pc.16591T>CSubstitution - Missense
TRERF1ENSG00000124496ENST00000372917p.R890Mc.2669G>TSubstitution - Missense
EVC2ENSG00000173040ENST00000344938p.T1113Tc.3339C>TSubstitution - coding silent
FRMPD1ENSG00000070601ENST00000541302p.M304Ic.912G>ASubstitution - Missense
CAMSAP1ENSG00000130559ENST00000409386p.N1073Sc.3218A>GSubstitution - Missense
ZNF41ENSG00000147124ENST00000397050p.K344Rc.1031A>GSubstitution - Missense
MAGIXENSG00000017621ENST00000376338p.P58Sc.172C>TSubstitution - Missense
MCMDC2ENSG00000178460ENST00000313616p.C484*c.1452C>ASubstitution - Nonsense
ZFHX4ENSG00000091656ENST00000050961p.M2891Vc.8671A>GSubstitution - Missense
SLCO4A1ENSG00000101187ENST00000370507p.T297Mc.890C>TSubstitution - Missense
NLRP12ENSG00000142405ENST00000324134p.A184Tc.550G>ASubstitution - Missense
ZCCHC6ENSG00000083223ENST00000375963p.E656Kc.1966G>ASubstitution - Missense
CPSF7ENSG00000149532ENST00000394888p.P298fs*14c.893delCDeletion - Frameshift
MRC2ENSG00000011028ENST00000303375p.R952Cc.2854C>TSubstitution - Missense
COL4A6ENSG00000197565ENST00000334504p.G1442*c.4324G>TSubstitution - Nonsense
ZDHHC8ENSG00000099904ENST00000334554p.T459fs*177c.1369delCDeletion - Frameshift
COG7ENSG00000168434ENST00000307149p.A376Vc.1127C>TSubstitution - Missense
TEKENSG00000120156ENST00000380036p.V453Mc.1357G>ASubstitution - Missense
CORTENSG00000241563ENST00000377049p.L58Lc.174G>CSubstitution - coding silent
ZNF740ENSG00000139651ENST00000416904p.C131Cc.393C>TSubstitution - coding silent
TTNENSG00000155657ENST00000360870p.A4769Vc.14306C>TSubstitution - Missense
MYCBP2ENSG00000005810ENST00000407578p.D2907Ec.8721T>ASubstitution - Missense
ZNF512ENSG00000243943ENST00000355467p.R207Cc.619C>TSubstitution - Missense
ZNF99ENSG00000213973ENST00000397104p.P887Pc.2661G>ASubstitution - coding silent
WBP1ENSG00000239779ENST00000233615p.H185fs*10c.552delTDeletion - Frameshift
PCLOENSG00000186472ENST00000333891p.K2442fs*2c.7325delADeletion - Frameshift
IARS2ENSG00000067704ENST00000302637p.?c.2751+2T>CUnknown
CDC14AENSG00000079335ENST00000336454p.A290Tc.868G>ASubstitution - Missense
TMEM63AENSG00000196187ENST00000366835p.F509Fc.1527C>TSubstitution - coding silent
HS6ST3ENSG00000185352ENST00000376705p.N390Nc.1170C>TSubstitution - coding silent
MVKENSG00000110921ENST00000228510p.?c.677+5C>TUnknown
SETDB2ENSG00000136169ENST00000317257p.V31Vc.93G>ASubstitution - coding silent
HNRNPA1L2ENSG00000139675ENST00000357495p.H156Rc.467A>GSubstitution - Missense
LOXL1ENSG00000129038ENST00000261921p.L393Mc.1177C>ASubstitution - Missense
USH2AENSG00000042781ENST00000307340p.S1942Gc.5824A>GSubstitution - Missense
BPNT1ENSG00000162813ENST00000322067p.N211Sc.632A>GSubstitution - Missense
KAT6BENSG00000156650ENST00000287239p.A1976Vc.5927C>TSubstitution - Missense
RNLSENSG00000184719ENST00000331772p.G41fs*3c.122delGDeletion - Frameshift
OPN4ENSG00000122375ENST00000372071p.V125Dc.374T>ASubstitution - Missense
LRIT2ENSG00000204033ENST00000372113p.I139Vc.415A>GSubstitution - Missense
KRT7ENSG00000135480ENST00000331817p.A360Tc.1078G>ASubstitution - Missense
ZNF84ENSG00000198040ENST00000392319p.?c.239-8C>AUnknown
NXPH4ENSG00000182379ENST00000349394p.H246Yc.736C>TSubstitution - Missense
ENST00000327087_v68p.R82Hc.245G>ASubstitution - Missense
KIRRELENSG00000183853ENST00000392272p.?c.1306-8G>AUnknown
MADDENSG00000110514ENST00000311027p.T725Ac.2173A>GSubstitution - Missense
HAPLN2ENSG00000132702ENST00000255039p.E172Ec.516G>ASubstitution - coding silent
TSPAN18ENSG00000157570ENST00000340160p.G63Gc.189C>TSubstitution - coding silent
IL16ENSG00000172349ENST00000302987p.W470Rc.1408T>CSubstitution - Missense
BTBD1ENSG00000064726ENST00000261721p.G269*c.805G>TSubstitution - Nonsense
ATG16L2ENSG00000168010ENST00000321297p.Q70Rc.209A>GSubstitution - Missense
CHFRENSG00000072609ENST00000432561p.K572Rc.1715A>GSubstitution - Missense
POLEENSG00000177084ENST00000320574p.R494Wc.1480C>TSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.A3318Tc.9952G>ASubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.L5183Ic.15547C>ASubstitution - Missense
HIC2ENSG00000169635ENST00000407464p.L74Mc.220C>ASubstitution - Missense
TNXBENSG00000168477ENST00000375247p.Q1876*c.5626C>TSubstitution - Nonsense
TNXBENSG00000168477ENST00000451343p.G33Gc.99C>TSubstitution - coding silent
PHLPP2ENSG00000040199ENST00000356272p.V851Ac.2552T>CSubstitution - Missense
SLC32A1ENSG00000101438ENST00000217420p.A355Ac.1065G>ASubstitution - coding silent
N4BP3ENSG00000145911ENST00000274605p.G407fs*47c.1217delGDeletion - Frameshift
NSD1ENSG00000165671ENST00000439151p.G951*c.2851G>TSubstitution - Nonsense
RARSENSG00000113643ENST00000231572p.C150Rc.448T>CSubstitution - Missense
ENST00000345702p.E819*c.2455G>TSubstitution - Nonsense
ITGA1ENSG00000213949ENST00000282588p.L23Ic.67C>ASubstitution - Missense
C2ENSG00000166278ENST00000299367p.?c.256+2T>CUnknown
PPWD1ENSG00000113593ENST00000261308p.T25fs*20c.73_74insAInsertion - Frameshift
GPRIN1ENSG00000169258ENST00000303991p.G167*c.499G>TSubstitution - Nonsense
TGENSG00000042832ENST00000220616p.V1961Mc.5881G>ASubstitution - Missense
NM_005607p.?c.1190+6T>CUnknown
GSNENSG00000148180ENST00000373823p.I439Ic.1317C>ASubstitution - coding silent
TGENSG00000042832ENST00000220616p.F1430Lc.4288T>CSubstitution - Missense
RGS3ENSG00000138835ENST00000317613p.?c.1578+8C>AUnknown
DDX60ENSG00000137628ENST00000393743p.R1541*c.4621C>TSubstitution - Nonsense
FETUBENSG00000090512ENST00000265029p.D340Yc.1018G>TSubstitution - Missense
PSMD2ENSG00000175166ENST00000310118p.E136fs*9c.403delGDeletion - Frameshift
CLCN2ENSG00000114859ENST00000265593p.R751Hc.2252G>ASubstitution - Missense
NM_003829.1p.R744*c.2230C>TSubstitution - Nonsense
CYP26A1ENSG00000095596ENST00000224356p.A405Ac.1215A>GSubstitution - coding silent
DNAH17ENSG00000187775ENST00000389840p.E3853Kc.11557G>ASubstitution - Missense
LRP2ENSG00000081479ENST00000263816p.W85*c.255G>ASubstitution - Nonsense
SCN9AENSG00000169432ENST00000409672p.S606Rc.1818T>GSubstitution - Missense
PHF20L1ENSG00000129292ENST00000220847p.?c.430-4G>AUnknown
EXOSC10ENSG00000171824ENST00000544779p.Q574Kc.1720C>ASubstitution - Missense
PPFIA2ENSG00000139220ENST00000333447p.R610Ic.1829G>TSubstitution - Missense
SNRPNENSG00000128739ENST00000444203p.*245Qc.733T>CNonstop extension
UNC13CENSG00000137766ENST00000545554p.H411Hc.1233T>CSubstitution - coding silent
ENST00000256343_v70p.?c.616+4G>TUnknown
SYNE2ENSG00000054654ENST00000357395p.T1849Ac.5545A>GSubstitution - Missense
FUBP1ENSG00000162613ENST00000436586p.R146Hc.437G>ASubstitution - Missense
SDR39U1ENSG00000100445ENST00000399395p.E119fs*18c.355delGDeletion - Frameshift
DTNBP1ENSG00000047579ENST00000355917p.E316fs*>37c.946delGDeletion - Frameshift
CADPS2ENSG00000081803ENST00000313070p.R508fs*9c.1515_1516insAInsertion - Frameshift
SLC16A1ENSG00000155380ENST00000433570p.D15fs*34c.34_35insCInsertion - Frameshift
ABCA12ENSG00000144452ENST00000389661p.N1353fs*2c.4051_4052insAInsertion - Frameshift
RBMS3ENSG00000144642ENST00000456853p.M10Ic.30G>ASubstitution - Missense
IFRD2ENSG00000214706ENST00000429673p.?c.739-3C>TUnknown
SPATA13ENSG00000182957ENST00000343003p.Q490fs*14c.1467_1468insAInsertion - Frameshift
RPL28ENSG00000108107ENST00000560583p.S76Yc.227C>ASubstitution - Missense
GATAD2AENSG00000167491ENST00000404158p.G81Gc.243G>ASubstitution - coding silent
DYNC1I2ENSG00000077380ENST00000358002p.S493Sc.1479G>ASubstitution - coding silent
CATSPERDENSG00000174898ENST00000381614p.P242Pc.726C>TSubstitution - coding silent
LILRA2ENSG00000239998ENST00000251377p.G464Ec.1391G>ASubstitution - Missense
FN1ENSG00000115414ENST00000426059p.?c.415+9G>TUnknown
MIOXENSG00000100253ENST00000395733p.G126Vc.377G>TSubstitution - Missense
LIMS1ENSG00000169756ENST00000409441p.A57Sc.169G>TSubstitution - Missense
LIMS1ENSG00000169756ENST00000393314p.A82Sc.244G>TSubstitution - Missense
SLC8A1ENSG00000183023ENST00000406785p.T822Tc.2466C>TSubstitution - coding silent
SLC8A1ENSG00000183023ENST00000406785p.G43*c.127G>TSubstitution - Nonsense
PLXND1ENSG00000004399ENST00000393239p.L1570Lc.4708C>TSubstitution - coding silent
PLXND1ENSG00000004399ENST00000393239p.S1205Nc.3614G>ASubstitution - Missense
NME9ENSG00000181322ENST00000333911p.S224Nc.671G>ASubstitution - Missense
DHX36ENSG00000174953ENST00000544526p.P648Lc.1943C>TSubstitution - Missense
ZBP1ENSG00000124256ENST00000343535p.K42Nc.126G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.N1274Kc.3822T>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.N1333Kc.3999T>ASubstitution - Missense
UTRNENSG00000152818ENST00000421035p.H106Hc.318T>CSubstitution - coding silent
SCAF8ENSG00000213079ENST00000367186p.P1202Hc.3605C>ASubstitution - Missense
ENST00000378024_v70p.L3253Lc.9759T>CSubstitution - coding silent
CSMD3ENSG00000164796ENST00000297405p.?c.1031-3C>TUnknown
HSF2ENSG00000025156ENST00000368455p.T496Tc.1488C>TSubstitution - coding silent
HDDC2ENSG00000111906ENST00000398153p.?c.518-8C>AUnknown
TRPS1ENSG00000104447ENST00000395715p.T573Ac.1717A>GSubstitution - Missense
KCNQ5ENSG00000185760ENST00000370398p.Q715Hc.2145G>TSubstitution - Missense
PTBP3ENSG00000119314ENST00000374255p.I470Ic.1410C>TSubstitution - coding silent
TRPS1ENSG00000104447ENST00000395715p.C909fs*42c.2719_2720insTInsertion - Frameshift
ZNF451ENSG00000112200ENST00000370706p.F696Fc.2088T>CSubstitution - coding silent
SOGA3ENSG00000214338ENST00000368268p.T383Nc.1148C>ASubstitution - Missense
DSTENSG00000151914ENST00000244364p.R5096Qc.15287G>ASubstitution - Missense
ROS1ENSG00000047936ENST00000368508p.T210Ac.628A>GSubstitution - Missense
EPAS1ENSG00000116016ENST00000263734p.L403Lc.1207C>TSubstitution - coding silent
PTGES3L-AARSD1ENSG00000108825ENST00000360221p.N26Nc.78T>CSubstitution - coding silent
SNCAIPENSG00000064692ENST00000379533p.S353Sc.1059C>ASubstitution - coding silent
OTUD4ENSG00000164164ENST00000447906p.D514Nc.1540G>ASubstitution - Missense
KCNIP4ENSG00000185774ENST00000382148p.I145Kc.434T>ASubstitution - Missense
GFI1BENSG00000165702ENST00000372122p.G81Sc.241G>ASubstitution - Missense
NOTCH1ENSG00000148400ENST00000277541p.G1319Rc.3955G>ASubstitution - Missense
SEMA4DENSG00000187764ENST00000450295p.D225Nc.673G>ASubstitution - Missense
COL5A1ENSG00000130635ENST00000371817p.T1693Tc.5079T>CSubstitution - coding silent
NRXN1ENSG00000179915ENST00000404971p.G1091Sc.3271G>ASubstitution - Missense
SEC62ENSG00000008952ENST00000337002p.T343Tc.1029G>TSubstitution - coding silent
TTC14ENSG00000163728ENST00000296015p.A307Vc.920C>TSubstitution - Missense
CLIP3ENSG00000105270ENST00000360535p.F434Lc.1300T>CSubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.L1025Ic.3073C>ASubstitution - Missense
ENST00000338790p.S150Sc.450C>TSubstitution - coding silent
GRAMD1AENSG00000089351ENST00000317991p.I429Ic.1287C>TSubstitution - coding silent
RBM27ENSG00000091009ENST00000265271p.L695Rc.2084T>GSubstitution - Missense
SPINK5ENSG00000133710ENST00000359874p.I388Fc.1162A>TSubstitution - Missense
SH3TC2ENSG00000169247ENST00000394358p.F225Fc.675T>CSubstitution - coding silent
RFFLENSG00000092871ENST00000394597p.Q257Rc.770A>GSubstitution - Missense
GJB7ENSG00000164411ENST00000525899p.V63Mc.187G>ASubstitution - Missense
PCDHGA6ENSG00000253731ENST00000517434p.P811Pc.2433G>ASubstitution - coding silent
COBLENSG00000106078ENST00000265136p.F1089fs*25c.3267delTDeletion - Frameshift
CSAG1ENSG00000198930ENST00000370291p.D23Dc.69C>TSubstitution - coding silent
SRPK3ENSG00000184343ENST00000489426p.Q122Rc.365A>GSubstitution - Missense
DGKBENSG00000136267ENST00000403951p.?c.70+9T>CUnknown
PASD1ENSG00000166049ENST00000370357p.A741Vc.2222C>TSubstitution - Missense
ATP2B3ENSG00000067842ENST00000359149p.H1071Yc.3211C>TSubstitution - Missense
PCDHA4ENSG00000204967ENST00000378125p.E111Dc.333A>CSubstitution - Missense
PCDHB6ENSG00000113211ENST00000231136p.Q106Qc.318A>GSubstitution - coding silent
LHX1ENSG00000132130ENST00000254457p.A340Vc.1019C>TSubstitution - Missense
OR2A4ENSG00000180658ENST00000315453p.A56Tc.166G>ASubstitution - Missense
PIPENSG00000159763ENST00000291009p.?c.202-4C>TUnknown
HIST1H4JENSG00000197238ENST00000355057p.T81fs*>24c.237_238insAInsertion - Frameshift
OR11A1ENSG00000204694ENST00000377149p.I104Ic.312C>ASubstitution - coding silent
OR2A14ENSG00000221938ENST00000408899p.R302fs*>10c.904_905insTInsertion - Frameshift
STAG3ENSG00000066923ENST00000426455p.P4fs*42c.8delCDeletion - Frameshift
ENST00000319379p.L3674Mc.11020C>ASubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.L3768fs*46c.11297_11298insTInsertion - Frameshift
C7orf43ENSG00000146826ENST00000316937p.A401Tc.1201G>ASubstitution - Missense
RIMS2ENSG00000176406ENST00000436393p.A1112Vc.3335C>TSubstitution - Missense
ADCYAP1R1ENSG00000078549ENST00000304166p.V7Ic.19G>ASubstitution - Missense
CDK13ENSG00000065883ENST00000181839p.E1171Ec.3513G>ASubstitution - coding silent
SPTBN4ENSG00000160460ENST00000352632p.E425delEc.1271_1273delAGGDeletion - In frame
GCKENSG00000106633ENST00000345378p.S442Sc.1326G>ASubstitution - coding silent
THAP5ENSG00000177683ENST00000415914p.V227Ac.680T>CSubstitution - Missense
TAS2R40ENSG00000221937ENST00000408947p.A124Tc.370G>ASubstitution - Missense
GNL1ENSG00000204590ENST00000376621p.?c.1278+10G>AUnknown
XM_375550.2p.P709Pc.2127G>ASubstitution - coding silent
SNX13ENSG00000071189ENST00000428135p.N799fs*20c.2391_2392insAAInsertion - Frameshift
BZW2ENSG00000136261ENST00000258761p.K320Nc.960G>TSubstitution - Missense
SRP72ENSG00000174780ENST00000342756p.A47Tc.139G>ASubstitution - Missense
KLHL22ENSG00000099910ENST00000328879p.G77*c.229G>TSubstitution - Nonsense
CARD11ENSG00000198286ENST00000396946p.R498Lc.1493G>TSubstitution - Missense
AKAP12ENSG00000131016ENST00000402676p.K672Rc.2015A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.S6979Sc.20937T>CSubstitution - coding silent
ADGBENSG00000118492ENST00000367493p.T433Mc.1298C>TSubstitution - Missense
WDFY1ENSG00000085449ENST00000233055p.V191Ic.571G>ASubstitution - Missense
SP140ENSG00000079263ENST00000392045p.A587Ac.1761T>ASubstitution - coding silent
WDR33ENSG00000136709ENST00000322313p.F1087Fc.3261C>TSubstitution - coding silent
CNKSR2ENSG00000149970ENST00000379510p.C718Yc.2153G>ASubstitution - Missense
DPP10ENSG00000175497ENST00000310323p.?c.251-4G>AUnknown
HEATR2ENSG00000164818ENST00000297440p.?c.1258-3C>TUnknown
PCLOENSG00000186472ENST00000333891p.P842Tc.2524C>ASubstitution - Missense
F8ENSG00000185010ENST00000360256p.T7Tc.21C>TSubstitution - coding silent
USP45ENSG00000123552ENST00000500704p.T136Tc.408G>ASubstitution - coding silent
ERV3-1ENSG00000213462ENST00000394323p.C71Yc.212G>ASubstitution - Missense
ENST00000358511_v70p.D260Dc.780C>TSubstitution - coding silent
C2orf74ENSG00000237651ENST00000432605p.R111Mc.332G>TSubstitution - Missense
PEX13ENSG00000162928ENST00000295030p.T49Nc.146C>ASubstitution - Missense
PLXNA1ENSG00000114554ENST00000393409p.G1062Cc.3184G>TSubstitution - Missense
CCDC14ENSG00000175455ENST00000433542p.I133Mc.399A>GSubstitution - Missense
PNMAL2ENSG00000204851ENST00000377655p.A147Sc.439G>TSubstitution - Missense
PRR14ENSG00000156858ENST00000300835p.R536Hc.1607G>ASubstitution - Missense
EML2ENSG00000125746ENST00000245925p.R317Wc.949C>TSubstitution - Missense
CLN3ENSG00000188603ENST00000359984p.?c.47-1G>TUnknown
SERPINE1ENSG00000106366ENST00000223095p.L128Lc.382C>TSubstitution - coding silent
ZNF679ENSG00000197123ENST00000421025p.Y324fs*21c.970delTDeletion - Frameshift
ZNF716ENSG00000182111ENST00000420713p.W475*c.1425G>ASubstitution - Nonsense
PRPF4BENSG00000112739ENST00000337659p.K47fs*3c.137_138insAInsertion - Frameshift
PGCENSG00000096088ENST00000425343p.G178Dc.533G>ASubstitution - Missense
PGCENSG00000096088ENST00000425343p.T129Tc.387C>ASubstitution - coding silent
ANAPC2ENSG00000176248ENST00000323927p.?c.873+5G>TUnknown
ELLENSG00000105656ENST00000262809p.G20Dc.59G>ASubstitution - Missense
KCNN1ENSG00000105642ENST00000222249p.T375Nc.1124C>ASubstitution - Missense
NME9ENSG00000181322ENST00000317876p.S163Nc.488G>ASubstitution - Missense
NM_001184p.E330Qc.988G>CSubstitution - Missense
ENST00000319822p.?c.2064+2T>CUnknown
TBC1D9ENSG00000109436ENST00000442267p.E422Gc.1265A>GSubstitution - Missense
PIK3CBENSG00000051382ENST00000477593p.R604fs*29c.1803_1804insCInsertion - Frameshift
CABP5ENSG00000105507ENST00000293255p.R141Wc.421C>TSubstitution - Missense
CLASRPENSG00000104859ENST00000221455p.?c.465-2A>GUnknown
CCR2ENSG00000121807ENST00000292301p.L90Fc.268C>TSubstitution - Missense
COL7A1ENSG00000114270ENST00000328333p.?c.1781-4C>AUnknown
MAST4ENSG00000069020ENST00000405643p.R866*c.2596C>TSubstitution - Nonsense
C5orf49ENSG00000215217ENST00000399810p.R129Rc.385A>CSubstitution - coding silent
ATRXENSG00000085224ENST00000373344p.P592Hc.1775C>ASubstitution - Missense
ENSG00000073169ENST00000380903p.D338Dc.1014C>TSubstitution - coding silent
ATRXENSG00000085224ENST00000373344p.S2379Nc.7136G>ASubstitution - Missense
TAF1ENSG00000147133ENST00000373790p.K1009Nc.3027A>CSubstitution - Missense
TAF1ENSG00000147133ENST00000373790p.E1256Ec.3768G>ASubstitution - coding silent
TAF1ENSG00000147133ENST00000373790p.C1477Cc.4431T>CSubstitution - coding silent
TAF1ENSG00000147133ENST00000373790p.E1714Ac.5141A>CSubstitution - Missense
CNTLNENSG00000044459ENST00000380647p.E416Ec.1248G>ASubstitution - coding silent
ZMYM3ENSG00000147130ENST00000314425p.S1077Sc.3231A>GSubstitution - coding silent
NLGN4XENSG00000146938ENST00000381095p.I632Lc.1894A>TSubstitution - Missense
OTTHUMT00000057233.1p.W173*c.518G>ASubstitution - Nonsense
RFPL4BENSG00000251258ENST00000441065p.S159Sc.477C>TSubstitution - coding silent
SLC22A16ENSG00000004809ENST00000368919p.A200Tc.598G>ASubstitution - Missense
GRIK2ENSG00000164418ENST00000369138p.L311Lc.933G>ASubstitution - coding silent
EYSENSG00000188107ENST00000370621p.S312Nc.935G>ASubstitution - Missense
CNDP2ENSG00000133313ENST00000324262p.E355Kc.1063G>ASubstitution - Missense
COL5A3ENSG00000080573ENST00000264828p.P1113Hc.3338C>ASubstitution - Missense
PCDH11XENSG00000102290ENST00000504220p.R76Rc.228A>GSubstitution - coding silent
MOV10L1ENSG00000073146ENST00000540615p.P1129Pc.3387C>TSubstitution - coding silent
ALS2CLENSG00000178038ENST00000318962p.C840Yc.2519G>ASubstitution - Missense
ADCY2ENSG00000078295ENST00000338316p.A368Sc.1102G>TSubstitution - Missense
SMIM4ENSG00000168273ENST00000477703p.V31fs*12c.90_91insTInsertion - Frameshift
NISCHENSG00000010322ENST00000345716p.S903Sc.2709C>ASubstitution - coding silent
RBM47ENSG00000163694ENST00000381795p.I171Nc.512T>ASubstitution - Missense
NM_014815.2p.A868Gc.2603C>GSubstitution - Missense
PIK3R5ENSG00000141506ENST00000447110p.T797Ic.2390C>TSubstitution - Missense
ENST00000356067p.E483Kc.1447G>ASubstitution - Missense
MGAMENSG00000257335ENST00000549489p.N519Dc.1555A>GSubstitution - Missense
CDK14ENSG00000058091ENST00000265741p.?c.316-1G>CUnknown
KIF13AENSG00000137177ENST00000378814p.S1324Sc.3972A>GSubstitution - coding silent
TMEM213ENSG00000214128ENST00000442682p.G66*c.196G>TSubstitution - Nonsense
AKR1B15ENSG00000227471ENST00000457545p.M173Ic.519G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.E20953Gc.62858A>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.K7833Nc.23499G>TSubstitution - Missense
NM_003319p.K7641Nc.22923G>TSubstitution - Missense
ENSG00000091436ENST00000338983p.M424Vc.1270A>GSubstitution - Missense
ENST00000356127p.W18315*c.54945G>ASubstitution - Nonsense
DNMT3BENSG00000088305ENST00000201963p.C519Rc.1555T>CSubstitution - Missense
ENSG00000088899ENST00000329152p.V116Ac.347T>CSubstitution - Missense
ZNF337ENSG00000130684ENST00000376436p.E485delEc.1453_1455delGAGDeletion - In frame
DEFB115ENSG00000215547ENST00000400552p.R54Mc.161G>TSubstitution - Missense
CEP76ENSG00000101624ENST00000262127p.V76Ic.226G>ASubstitution - Missense
PTPRSENSG00000105426ENST00000357368p.P1374Pc.4122C>TSubstitution - coding silent
ZBTB11ENSG00000066422ENST00000312938p.V216Vc.648T>ASubstitution - coding silent
CLK1ENSG00000013441ENST00000321356p.E177*c.529G>TSubstitution - Nonsense
AOX1ENSG00000138356ENST00000374700p.F1280Fc.3840T>CSubstitution - coding silent
ENST00000407686p.M237Vc.709A>GSubstitution - Missense
TFGENSG00000114354ENST00000490574p.P96Pc.288C>ASubstitution - coding silent
NM_003319p.C23959*c.71877T>ASubstitution - Nonsense
ENST00000342791p.R37Hc.110G>ASubstitution - Missense
TPST2ENSG00000128294ENST00000398110p.T194Mc.581C>TSubstitution - Missense
OSBP2ENSG00000184792ENST00000403222p.I372Tc.1115T>CSubstitution - Missense
SFI1ENSG00000198089ENST00000400288p.L807Lc.2421G>ASubstitution - coding silent
ZNF613ENSG00000176024ENST00000293471p.A536Tc.1606G>ASubstitution - Missense
ANKRD11ENSG00000167522ENST00000301030p.D32Yc.94G>TSubstitution - Missense
ZNF701ENSG00000167562ENST00000391785p.R193Mc.578G>TSubstitution - Missense
ARHGAP24ENSG00000138639ENST00000395184p.R512Rc.1536G>ASubstitution - coding silent
ENST00000316893p.G1867Rc.5599G>ASubstitution - Missense
PLP2ENSG00000102007ENST00000376322p.L141Pc.422T>CSubstitution - Missense
ERASENSG00000187682ENST00000338270p.S193Pc.577T>CSubstitution - Missense
PEG3ENSG00000198300ENST00000326441p.G373fs*50c.1118delGDeletion - Frameshift
ZNF606ENSG00000166704ENST00000341164p.S722Sc.2166C>TSubstitution - coding silent
FRAS1ENSG00000138759ENST00000264895p.R2096Cc.6286C>TSubstitution - Missense
DUSP21ENSG00000189037ENST00000339042p.N60Nc.180C>TSubstitution - coding silent
ZFYVE20ENSG00000131381ENST00000253699p.K244Kc.732G>ASubstitution - coding silent
SMYD5ENSG00000135632ENST00000389501p.R278Cc.832C>TSubstitution - Missense
NM_006062.1p.R162Cc.484C>TSubstitution - Missense
AADACL2ENSG00000197953ENST00000356517p.I150fs*34c.448_449insAInsertion - Frameshift
METTL6ENSG00000206562ENST00000383790p.N44Kc.132T>ASubstitution - Missense
FHOD1ENSG00000135723ENST00000258201p.A467Ac.1401C>TSubstitution - coding silent
GCC2ENSG00000135968ENST00000309863p.N233fs*12c.692delADeletion - Frameshift
SCN5AENSG00000183873ENST00000333535p.D1741fs*46c.5221delGDeletion - Frameshift
VIPR1ENSG00000114812ENST00000325123p.Y336Yc.1008C>TSubstitution - coding silent
NLGN2ENSG00000169992ENST00000302926p.L310Lc.930G>ASubstitution - coding silent
KIAA1109ENSG00000138688ENST00000264501p.Q549Hc.1647G>TSubstitution - Missense
SYNPO2ENSG00000172403ENST00000434046p.G393Wc.1177G>TSubstitution - Missense
OR2V1ENSG00000185372ENST00000329365p.Q233Hc.699G>TSubstitution - Missense
MGAT4BENSG00000161013ENST00000337755p.G119Cc.355G>TSubstitution - Missense
BOD1L1ENSG00000038219ENST00000040738p.A1621Tc.4861G>ASubstitution - Missense
ATP6V1B1ENSG00000116039ENST00000234396p.T109Tc.327A>GSubstitution - coding silent
DQX1ENSG00000144045ENST00000393951p.Q69*c.205C>TSubstitution - Nonsense
HLTFENSG00000071794ENST00000310053p.R71Hc.212G>ASubstitution - Missense
HGFENSG00000019991ENST00000222390p.Y615fs*8c.1843delTDeletion - Frameshift
G6PDENSG00000160211ENST00000393562p.I66Vc.196A>GSubstitution - Missense
PSD4ENSG00000125637ENST00000245796p.P292Tc.874C>ASubstitution - Missense
GPR108ENSG00000125734ENST00000264080p.N228Nc.684C>TSubstitution - coding silent
SDCBPENSG00000137575ENST00000260130p.E196fs*1c.582_583insTInsertion - Frameshift
NM_033086.1p.?c.1681-1G>TUnknown
NM_003319p.V3204Vc.9612G>ASubstitution - coding silent
TNS1ENSG00000079308ENST00000171887p.S638fs*58c.1910_1911insGInsertion - Frameshift
PRR12ENSG00000126464ENST00000418929p.P116fs*65c.344_345insTInsertion - Frameshift
CANT1ENSG00000171302ENST00000392446p.S193Nc.578G>ASubstitution - Missense
MID2ENSG00000080561ENST00000262843p.I586Ic.1758T>CSubstitution - coding silent
ENST00000329047_v70p.A70Ac.210G>ASubstitution - coding silent
HNRNPH2ENSG00000126945ENST00000316594p.L381fs*14c.1135_1136insTInsertion - Frameshift
LRRC48ENSG00000171962ENST00000411504p.I338Vc.1012A>GSubstitution - Missense
WDR81ENSG00000167716ENST00000409644p.N957fs*4c.2865_2866insAInsertion - Frameshift
PTCH1ENSG00000185920ENST00000331920p.V287Ic.859G>ASubstitution - Missense
MYOCDENSG00000141052ENST00000343344p.E378Gc.1133A>GSubstitution - Missense
TOPORSENSG00000197579ENST00000360538p.P228Hc.683C>ASubstitution - Missense
ENST00000399933_v61p.C168Cc.504C>TSubstitution - coding silent
C9orf24ENSG00000164972ENST00000297623p.E38Kc.112G>ASubstitution - Missense
LRRN4ENSG00000125872ENST00000378858p.S405Ic.1214G>TSubstitution - Missense
ENST00000237536_v68p.A1148Vc.3443C>TSubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.P597Qc.1790C>ASubstitution - Missense
ZFP64ENSG00000020256ENST00000216923p.R436Rc.1308G>ASubstitution - coding silent
RGS9BPENSG00000186326ENST00000334176p.Q34Rc.101A>GSubstitution - Missense
TMF1ENSG00000144747ENST00000398559p.L873Ic.2617C>ASubstitution - Missense
LZTS1ENSG00000061337ENST00000381569p.L470Pc.1409T>CSubstitution - Missense
MSRAENSG00000175806ENST00000317173p.M1Kc.2T>ASubstitution - Missense
CNGB3ENSG00000170289ENST00000320005p.R396Ic.1187G>TSubstitution - Missense
CNGB3ENSG00000170289ENST00000320005p.E336fs*1c.999_1000insTInsertion - Frameshift
MAGI1ENSG00000151276ENST00000330909p.Q670Rc.2009A>GSubstitution - Missense
FLNBENSG00000136068ENST00000490882p.G1627Dc.4880G>ASubstitution - Missense
TNPO3ENSG00000064419ENST00000265388p.A283Tc.847G>ASubstitution - Missense
EQTNENSG00000120160ENST00000380032p.N58fs*8c.173delADeletion - Frameshift
VWDEENSG00000146530ENST00000275358p.F1001Lc.3001T>CSubstitution - Missense
WASLENSG00000106299ENST00000223023p.P288Pc.864T>ASubstitution - coding silent
LAMA3ENSG00000053747ENST00000269217p.C216Rc.646T>CSubstitution - Missense
ULK2ENSG00000083290ENST00000361658p.S801fs*2c.2394delADeletion - Frameshift
NOTUMENSG00000185269ENST00000409678p.M177Ic.531G>ASubstitution - Missense
LAPTM4BENSG00000104341ENST00000445593p.V121Ac.362T>CSubstitution - Missense
MAPK7ENSG00000166484ENST00000308406p.E723Dc.2169G>TSubstitution - Missense
GEMIN4ENSG00000179409ENST00000319004p.Q523fs*32c.1566delTDeletion - Frameshift
GEMIN4ENSG00000179409ENST00000319004p.Q523fs*32c.1566delTDeletion - Frameshift
ULK2ENSG00000083290ENST00000361658p.?c.184-1G>TUnknown
ABCG1ENSG00000160179ENST00000361802p.T412Ac.1234A>GSubstitution - Missense
DSCAMENSG00000171587ENST00000400454p.P1192Lc.3575C>TSubstitution - Missense
ENDOVENSG00000173818ENST00000518137p.P73Tc.217C>ASubstitution - Missense
CABYRENSG00000154040ENST00000463087p.?c.146-4T>GUnknown
MAPRE2ENSG00000166974ENST00000300249p.Q145Hc.435G>TSubstitution - Missense
SMCHD1ENSG00000101596ENST00000261598p.Q21Rc.62A>GSubstitution - Missense
ELAVL3ENSG00000196361ENST00000359227p.T99Tc.297C>ASubstitution - coding silent
PDE4AENSG00000065989ENST00000344979p.Y337*c.1011C>ASubstitution - Nonsense
EVA1CENSG00000166979ENST00000300255p.L176Lc.528G>ASubstitution - coding silent
HTTENSG00000197386ENST00000355072p.N2715Nc.8145C>TSubstitution - coding silent
ITGAEENSG00000083457ENST00000263087p.R1165Kc.3494G>ASubstitution - Missense
STX19ENSG00000178750ENST00000315099p.I250Ic.750T>CSubstitution - coding silent
AFMENSG00000079557ENST00000226355p.?c.1780-1G>TUnknown
NM_025134.3p.K1868Nc.5604A>CSubstitution - Missense
NLRC5ENSG00000140853ENST00000262510p.A299Vc.896C>TSubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.D312Dc.936T>CSubstitution - coding silent
DDX52ENSG00000141141ENST00000349699p.G50fs*31c.141_142insTInsertion - Frameshift
BRD7ENSG00000166164ENST00000394688p.G577Gc.1731T>ASubstitution - coding silent
ROBO2ENSG00000185008ENST00000461745p.P1081Pc.3243C>TSubstitution - coding silent
KRTAP10-11ENSG00000243489ENST00000334670p.S236Pc.706T>CSubstitution - Missense
HIST1H1AENSG00000124610ENST00000244573p.A210Vc.629C>TSubstitution - Missense
ENST00000378381p.?c.1302+7G>TUnknown
ENST00000366809p.E1464Dc.4392G>TSubstitution - Missense
UBE4AENSG00000110344ENST00000431736p.E770Vc.2309A>TSubstitution - Missense
NM_207429.2p.R48Rc.144G>ASubstitution - coding silent
ENTPD5ENSG00000187097ENST00000334696p.G415Rc.1243G>ASubstitution - Missense
AKR1E2ENSG00000165568ENST00000298375p.?c.583-3T>AUnknown
HMCN1ENSG00000143341ENST00000271588p.G5102Gc.15306A>TSubstitution - coding silent
BCL9ENSG00000116128ENST00000234739p.K45Kc.135A>GSubstitution - coding silent
NBPF10ENSG00000163386ENST00000342960p.D1168fs*26c.3500_3501insAInsertion - Frameshift
KLHDC8AENSG00000162873ENST00000367155p.F262Lc.784T>CSubstitution - Missense
USP8ENSG00000138592ENST00000307179p.?c.850-1G>AUnknown
PDE4DIPENSG00000178104ENST00000313431p.K737Ec.2209A>GSubstitution - Missense
ENST00000298047_v61p.Q2124*c.6370C>TSubstitution - Nonsense
MRGPRX2ENSG00000183695ENST00000329773p.L226Lc.678G>ASubstitution - coding silent
TBC1D15ENSG00000121749ENST00000550746p.A623Tc.1867G>ASubstitution - Missense
TMPRSS5ENSG00000166682ENST00000299882p.?c.328+5G>AUnknown
C1SENSG00000182326ENST00000328916p.C549Yc.1646G>ASubstitution - Missense
CD163L1ENSG00000177675ENST00000313599p.N227fs*2c.674_675insGInsertion - Frameshift
SHC1ENSG00000160691ENST00000444664p.V27fs*2c.77delGDeletion - Frameshift
FLG2ENSG00000143520ENST00000388718p.H773Yc.2317C>TSubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.P370Ac.1108C>GSubstitution - Missense
PYGO1ENSG00000171016ENST00000302000p.N209Kc.627T>ASubstitution - Missense
ST5ENSG00000166444ENST00000534127p.R801Hc.2402G>ASubstitution - Missense
XM_046751.7p.?c.2983-1G>AUnknown
LACTBENSG00000103642ENST00000261893p.P514fs*22c.1537delCDeletion - Frameshift
ORC1ENSG00000085840ENST00000371568p.R549Hc.1646G>ASubstitution - Missense
CYP4A22ENSG00000162365ENST00000371891p.L274fs*107c.820delCDeletion - Frameshift
GLIS1ENSG00000174332ENST00000312233p.D541fs*>80c.1621delGDeletion - Frameshift
FAM177A1ENSG00000151327ENST00000396472p.V53Vc.159C>TSubstitution - coding silent
SPATA6ENSG00000132122ENST00000371847p.I15Nc.44T>ASubstitution - Missense
ITPR2ENSG00000123104ENST00000381340p.N331fs*32c.992_993insAInsertion - Frameshift
COL4A2ENSG00000134871ENST00000360467p.R3fs*20c.3delGDeletion - Frameshift
TLE3ENSG00000140332ENST00000317509p.V142fs*42c.416_417insCInsertion - Frameshift
DEGS2ENSG00000168350ENST00000305631p.M37Ic.111G>TSubstitution - Missense
LRRC8CENSG00000171488ENST00000370454p.N368fs*2c.1098_1099insAInsertion - Frameshift
UACAENSG00000137831ENST00000379983p.K11Tc.32A>CSubstitution - Missense
NADK2ENSG00000152620ENST00000397338p.V248Ac.743T>CSubstitution - Missense
AQRENSG00000021776ENST00000156471p.Y443Fc.1328A>TSubstitution - Missense
CILPENSG00000138615ENST00000261883p.?c.62-8G>AUnknown
IGDCC3ENSG00000174498ENST00000327987p.F721Vc.2161T>GSubstitution - Missense
DENND4AENSG00000174485ENST00000443035p.R1244Rc.3732G>ASubstitution - coding silent
TYW3ENSG00000162623ENST00000370867p.?c.354+3A>GUnknown
ELTD1ENSG00000162618ENST00000370742p.S304Sc.912T>CSubstitution - coding silent
PGM1ENSG00000079739ENST00000371084p.D524Dc.1572C>TSubstitution - coding silent
TNNI3KENSG00000116783ENST00000326637p.Q231Qc.693A>GSubstitution - coding silent
PDE4BENSG00000184588ENST00000371045p.?c.326-4G>AUnknown
LPHN2ENSG00000117114ENST00000370725p.V405Ac.1214T>CSubstitution - Missense
DNAJC11ENSG00000007923ENST00000377577p.D317Dc.951C>TSubstitution - coding silent
HHIPL1ENSG00000182218ENST00000357223p.T527Tc.1581C>ASubstitution - coding silent
LIG4ENSG00000174405ENST00000405925p.G780Gc.2340A>GSubstitution - coding silent
RGS20ENSG00000147509ENST00000297313p.A186Tc.556G>ASubstitution - Missense
ZNF385BENSG00000144331ENST00000410066p.T92Sc.274A>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.N5656Nc.16968C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.A4084Tc.12250G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S4640fs*22c.13917delCDeletion - Frameshift
TAF1CENSG00000103168ENST00000378541p.E723fs*76c.2167delGDeletion - Frameshift
ENST00000299564p.S142fs*5c.423delCDeletion - Frameshift
ALOX15ENSG00000161905ENST00000570836p.D512Dc.1536C>TSubstitution - coding silent
CRYZENSG00000116791ENST00000340866p.T98Mc.293C>TSubstitution - Missense
OTTHUMT00000057874.1p.S2Sc.6C>TSubstitution - coding silent
OTTHUMT00000057874.1p.A37Tc.109G>ASubstitution - Missense
SCARF1ENSG00000074660ENST00000263071p.E320Dc.960G>TSubstitution - Missense
UNKENSG00000132478ENST00000293218p.S487fs*1c.1457_1458insCInsertion - Frameshift
ENST00000215591p.K329Kc.987G>ASubstitution - coding silent
HTR2CENSG00000147246ENST00000371951p.L12Fc.34C>TSubstitution - Missense
USP26ENSG00000134588ENST00000370832p.A620Tc.1858G>ASubstitution - Missense
TMEM5ENSG00000118600ENST00000261234p.S59Tc.175T>ASubstitution - Missense
MGAT4CENSG00000182050ENST00000332156p.E176Dc.528G>TSubstitution - Missense
SU_OBSCN.1p.A6843fs*102c.20527_20528insGGInsertion - Frameshift
SU_OBSCN.1p.L8085fs*20c.24247_24248insCCInsertion - Frameshift
CCDC15ENSG00000149548ENST00000344762p.L533fs*3c.1596_1597insTInsertion - Frameshift
CDH24ENSG00000139880ENST00000487137p.R337Hc.1010G>ASubstitution - Missense
KRT6AENSG00000205420ENST00000330722p.Q439Rc.1316A>GSubstitution - Missense
LYSTENSG00000143669ENST00000389793p.S3389Sc.10167T>GSubstitution - coding silent
ABHD17CENSG00000136379ENST00000258884p.G209Dc.626G>ASubstitution - Missense
PIK3C2GENSG00000139144ENST00000433979p.P30Sc.88C>TSubstitution - Missense
TBCEENSG00000116957ENST00000543662p.Q506Rc.1517A>GSubstitution - Missense
CAPN9ENSG00000135773ENST00000354537p.T347Nc.1040C>ASubstitution - Missense
DNMBPENSG00000107554ENST00000342239p.M534Ic.1602G>ASubstitution - Missense
LZTS2ENSG00000107816ENST00000370220p.G331fs*123c.989delADeletion - Frameshift
ENST00000315797p.G194fs*32c.578delADeletion - Frameshift
DHTKD1ENSG00000181192ENST00000263035p.V93Vc.279G>ASubstitution - coding silent
C12orf55ENSG00000188596ENST00000298953p.R120fs*17c.357_358insCInsertion - Frameshift
APAF1ENSG00000120868ENST00000551964p.L582Lc.1746G>ASubstitution - coding silent
PHRF1ENSG00000070047ENST00000416188p.P1507Lc.4520C>TSubstitution - Missense
A2MENSG00000175899ENST00000318602p.L670Ic.2008C>ASubstitution - Missense
TPP2ENSG00000134900ENST00000376065p.M1113Tc.3338T>CSubstitution - Missense
TTC40ENSG00000171811ENST00000368582p.L936Lc.2808G>ASubstitution - coding silent
TEP1ENSG00000129566ENST00000262715p.P358Pc.1074C>TSubstitution - coding silent
ENST00000398939p.A39Ac.117T>CSubstitution - coding silent
RAPGEF3ENSG00000079337ENST00000395358p.?c.1473+1G>AUnknown
LNX2ENSG00000139517ENST00000316334p.A195Vc.584C>TSubstitution - Missense
MUC19ENSG00000205592ENST00000425730p.T1303Sc.3907A>TSubstitution - Missense
KIF21AENSG00000139116ENST00000395670p.H130fs*5c.379_380insAInsertion - Frameshift
MAML2ENSG00000184384ENST00000524717p.S421Nc.1262G>ASubstitution - Missense
WASF3ENSG00000132970ENST00000361042p.S128Gc.382A>GSubstitution - Missense
ATP8A2ENSG00000132932ENST00000381655p.Y646Hc.1936T>CSubstitution - Missense
SRSF10ENSG00000188529ENST00000492112p.D66Dc.198C>TSubstitution - coding silent
TACC2ENSG00000138162ENST00000453444p.A2472Vc.7415C>TSubstitution - Missense
KMOENSG00000117009ENST00000366559p.?c.1016-4A>GUnknown
KRTAP5-6ENSG00000205864ENST00000382160p.C17Rc.49T>CSubstitution - Missense
SPENENSG00000065526ENST00000375759p.R1368fs*41c.4098delADeletion - Frameshift
PIK3C2AENSG00000011405ENST00000265970p.A1544Pc.4630G>CSubstitution - Missense
ENST00000265969_v68p.D375Yc.1123G>TSubstitution - Missense
UBE3AENSG00000114062ENST00000397954p.L407Lc.1219C>TSubstitution - coding silent
CHRNA7ENSG00000175344ENST00000306901p.V97Mc.289G>ASubstitution - Missense
WRAP73ENSG00000116213ENST00000270708p.?c.339+3_339+6delaagtUnknown
BRCA2ENSG00000139618ENST00000380152p.D1476Gc.4427A>GSubstitution - Missense
CROCCENSG00000058453ENST00000375541p.L487Rc.1460T>GSubstitution - Missense
ARNTENSG00000143437ENST00000358595p.V464Mc.1390G>ASubstitution - Missense
VPS13DENSG00000048707ENST00000358136p.Y4320Cc.12959A>GSubstitution - Missense
HERC4ENSG00000148634ENST00000395198p.S313Sc.939A>GSubstitution - coding silent
EHBP1L1ENSG00000173442ENST00000309295p.A121Vc.362C>TSubstitution - Missense
PFKFB3ENSG00000170525ENST00000379785p.?c.1277-9G>AUnknown
ZBTB17ENSG00000116809ENST00000375743p.A125Tc.373G>ASubstitution - Missense
ARHGEF19ENSG00000142632ENST00000270747p.L395Lc.1185G>ASubstitution - coding silent
ERCC6ENSG00000225830ENST00000355832p.G715fs*24c.2144delGDeletion - Frameshift
GDI2ENSG00000057608ENST00000380191p.R240Sc.720G>TSubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.N1246Sc.3737A>GSubstitution - Missense
CITENSG00000122966ENST00000392521p.R1104Qc.3311G>ASubstitution - Missense
CITENSG00000122966ENST00000261833p.L1032Ic.3094C>ASubstitution - Missense
HIVEP3ENSG00000127124ENST00000372583p.L491Pc.1472T>CSubstitution - Missense
BCL2L14ENSG00000121380ENST00000308721p.M1Ic.3G>ASubstitution - Missense
ENST00000450269_v68p.R151Hc.452G>ASubstitution - Missense
COL9A2ENSG00000049089ENST00000372748p.P366fs*165c.1097delCDeletion - Frameshift
SU_SMG1p.G1130Sc.3388G>ASubstitution - Missense
DCLRE1CENSG00000152457ENST00000378278p.K74Kc.222A>GSubstitution - coding silent
ARMC3ENSG00000165309ENST00000298032p.L276fs*2c.824_825insGInsertion - Frameshift
GRIA4ENSG00000152578ENST00000393127p.K230Ec.688A>GSubstitution - Missense
KMT2AENSG00000118058ENST00000534358p.L3107Lc.9319T>CSubstitution - coding silent
ENST00000416621p.P130Hc.389C>ASubstitution - Missense
RNGTTENSG00000111880ENST00000369475p.K85Nc.255A>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.Q7764Qc.23292G>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000341594p.M2601Vc.7801A>GSubstitution - Missense
COL21A1ENSG00000124749ENST00000535941p.L313Sc.938T>CSubstitution - Missense
ENST00000378024_v70p.V2494Gc.7481T>GSubstitution - Missense
RUFY3ENSG00000018189ENST00000536664p.?c.777-7A>GUnknown
SORCS2ENSG00000184985ENST00000507866p.Q768Hc.2304G>TSubstitution - Missense
HEPHENSG00000089472ENST00000519389p.I961Tc.2882T>CSubstitution - Missense
UTP14AENSG00000156697ENST00000371042p.R445Mc.1334G>TSubstitution - Missense
EDA2RENSG00000131080ENST00000450752p.K163Ec.487A>GSubstitution - Missense
PCSK5ENSG00000099139ENST00000424854p.R184Cc.550C>TSubstitution - Missense
SETXENSG00000107290ENST00000372169p.C138Rc.412T>CSubstitution - Missense
CUL4BENSG00000158290ENST00000371323p.L44Lc.132C>TSubstitution - coding silent
CNKSR2ENSG00000149970ENST00000279451p.C718Yc.2153G>ASubstitution - Missense
PCDH11XENSG00000102290ENST00000298274p.R76Rc.228A>GSubstitution - coding silent
TENM1ENSG00000009694ENST00000422452p.?c.4472-7C>TUnknown
CNTFRENSG00000122756ENST00000378980p.V105Mc.313G>ASubstitution - Missense
PNPLA8ENSG00000135241ENST00000257694p.S636Lc.1907C>TSubstitution - Missense
DENND2AENSG00000146966ENST00000492720p.R596Mc.1787G>TSubstitution - Missense
RELAENSG00000173039ENST00000406246p.G208Sc.622G>ASubstitution - Missense
FARP1ENSG00000152767ENST00000376586p.A1042Vc.3125C>TSubstitution - Missense
NPR3ENSG00000113389ENST00000265074p.L319Ic.955C>ASubstitution - Missense
STAMENSG00000136738ENST00000377524p.V96Ic.286G>ASubstitution - Missense
PTGS2ENSG00000073756ENST00000367468p.C42Cc.126C>TSubstitution - coding silent
PPFIBP1ENSG00000110841ENST00000318304p.N98Nc.294C>TSubstitution - coding silent
LZTS2ENSG00000107816ENST00000370220p.S102fs*41c.298delCDeletion - Frameshift
GPR142ENSG00000257008ENST00000335666p.F375Fc.1125C>TSubstitution - coding silent
TRIM67ENSG00000119283ENST00000366653p.V515Ic.1543G>ASubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.F755fs*28c.2265delTDeletion - Frameshift
ROBO1ENSG00000169855ENST00000464233p.F755fs*28c.2265delTDeletion - Frameshift
SENP2ENSG00000163904ENST00000296257p.E257fs*29c.764delGDeletion - Frameshift
FHAD1ENSG00000142621ENST00000375999p.P130fs*99c.379_380insCInsertion - Frameshift
TAOK2ENSG00000149930ENST00000308893p.E125Gc.374A>GSubstitution - Missense
CHRNGENSG00000196811ENST00000389494p.C252fs*58c.749delCDeletion - Frameshift
LINGO4ENSG00000213171ENST00000368820p.P383fs*14c.1148delCDeletion - Frameshift
NOL8ENSG00000198000ENST00000545558p.K176Rc.527A>GSubstitution - Missense
PAX5ENSG00000196092ENST00000358127p.R197Hc.590G>ASubstitution - Missense
MAP3K4ENSG00000085511ENST00000392142p.D1527Nc.4579G>ASubstitution - Missense
SEMA6AENSG00000092421ENST00000343348p.Y912Yc.2736C>TSubstitution - coding silent
NKAIN4ENSG00000101198ENST00000370316p.F52Fc.156C>TSubstitution - coding silent
DTLENSG00000143476ENST00000366991p.D226Yc.676G>TSubstitution - Missense
PRKCZENSG00000067606ENST00000378567p.I212Nc.635T>ASubstitution - Missense
IPO5ENSG00000065150ENST00000261574p.A792Vc.2375C>TSubstitution - Missense
CDC14AENSG00000079335ENST00000370124p.A290Tc.868G>ASubstitution - Missense
GATA3ENSG00000107485ENST00000379328p.S391Lc.1172C>TSubstitution - Missense
MYOZ1ENSG00000177791ENST00000359322p.M238Tc.713T>CSubstitution - Missense
ENOX1ENSG00000120658ENST00000261488p.I31Tc.92T>CSubstitution - Missense
ANXA7ENSG00000138279ENST00000372919p.F458Fc.1374C>TSubstitution - coding silent
ARID3BENSG00000179361ENST00000346246p.M251Vc.751A>GSubstitution - Missense
MYO9AENSG00000066933ENST00000356056p.E12Ec.36A>GSubstitution - coding silent
COPZ1ENSG00000111481ENST00000262061p.T52Tc.156C>ASubstitution - coding silent
TPT1ENSG00000133112ENST00000530705p.M35Lc.103A>TSubstitution - Missense
STAT2ENSG00000170581ENST00000314128p.?c.1577-2_1577-1insTUnknown
PEAK1ENSG00000173517ENST00000312493p.P588Sc.1762C>TSubstitution - Missense
KRT2ENSG00000172867ENST00000309680p.L445Pc.1334T>CSubstitution - Missense
PI4K2AENSG00000155252ENST00000370631p.K141Nc.423G>TSubstitution - Missense
ENST00000349637p.S1747Tc.5240G>CSubstitution - Missense
CYP26A1ENSG00000095596ENST00000371531p.A336Ac.1008A>GSubstitution - coding silent
ZBTB40ENSG00000184677ENST00000404138p.K677Nc.2031G>TSubstitution - Missense
SEC24CENSG00000176986ENST00000345254p.R372*c.1114C>TSubstitution - Nonsense
ENST00000371192p.C1214Cc.3642C>TSubstitution - coding silent
ENST00000371192_v61p.N1238Dc.3712A>GSubstitution - Missense
PTPROENSG00000151490ENST00000281171p.T885Ac.2653A>GSubstitution - Missense
ANKS1AENSG00000064999ENST00000360359p.?c.732+4G>AUnknown
MEGF8ENSG00000105429ENST00000251268p.C439Cc.1317C>TSubstitution - coding silent
RHOT2ENSG00000140983ENST00000315082p.L173fs*3c.517_518insCInsertion - Frameshift
ZNF333ENSG00000160961ENST00000292530p.R383Rc.1149G>ASubstitution - coding silent
NM_207305.1p.S107fs*29c.312_313insCInsertion - Frameshift
AHSGENSG00000145192ENST00000411641p.A350Ac.1050T>CSubstitution - coding silent
USP20ENSG00000136878ENST00000372429p.L386Ic.1156C>ASubstitution - Missense
DDX60LENSG00000181381ENST00000260184p.S165Sc.495C>ASubstitution - coding silent
TENM3ENSG00000218336ENST00000511685p.R94Rc.282A>GSubstitution - coding silent
SPTAN1ENSG00000197694ENST00000372731p.R2382Ic.7145G>TSubstitution - Missense
TLX3ENSG00000164438ENST00000296921p.K211Rc.632A>GSubstitution - Missense
SFXN1ENSG00000164466ENST00000321442p.W120*c.360G>ASubstitution - Nonsense
XM_042066p.A1029Ac.3087C>TSubstitution - coding silent
FBXO8ENSG00000164117ENST00000393674p.R241Ic.722G>TSubstitution - Missense
FOLH1ENSG00000086205ENST00000256999p.Y234*c.702C>ASubstitution - Nonsense
MYOFENSG00000138119ENST00000371501p.?c.2002-1G>AUnknown
FAM178AENSG00000119906ENST00000370269p.Q790Hc.2370A>CSubstitution - Missense
PRKD1ENSG00000184304ENST00000331968p.A137Tc.409G>ASubstitution - Missense
ZNF33AENSG00000189180ENST00000432900p.C368Rc.1102T>CSubstitution - Missense
PTPRTENSG00000196090ENST00000373184p.G559Rc.1675G>ASubstitution - Missense
HHLA1ENSG00000132297ENST00000414222p.G29Dc.86G>ASubstitution - Missense
SNX27ENSG00000143376ENST00000368838p.E422Kc.1264G>ASubstitution - Missense
TRPT1ENSG00000149743ENST00000394546p.A197Vc.590C>TSubstitution - Missense
RIMBP2ENSG00000060709ENST00000536002p.Y109Hc.325T>CSubstitution - Missense
GYLTL1BENSG00000165905ENST00000389968p.P152Pc.456A>CSubstitution - coding silent
CAMSAP2ENSG00000118200ENST00000236925p.?c.562-5T>CUnknown
NFASCENSG00000163531ENST00000367172p.T222Ic.665C>TSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.Q3839*c.11515C>TSubstitution - Nonsense
RYR2ENSG00000198626ENST00000360064p.A2385Ac.7155G>TSubstitution - coding silent
RYR2ENSG00000198626ENST00000360064p.T852Ic.2555C>TSubstitution - Missense
GPR161ENSG00000143147ENST00000546300p.L16Mc.46C>ASubstitution - Missense
ABL2ENSG00000143322ENST00000392043p.S504Ic.1511G>TSubstitution - Missense
LIMCH1ENSG00000064042ENST00000396595p.A124Ac.372C>ASubstitution - coding silent
RGL2ENSG00000237441ENST00000444031p.G121_S122insGc.362_363insGGGInsertion - In frame
UBR2ENSG00000024048ENST00000372883p.N469fs*4c.1400_1401insAInsertion - Frameshift
LAMB4ENSG00000091128ENST00000388780p.L9fs*43c.26delTDeletion - Frameshift
IFRD2ENSG00000214706ENST00000429673p.D126fs*17c.376_377insGGInsertion - Frameshift
SYNE1ENSG00000131018ENST00000448038p.?c.21832-2delaUnknown
SYNE1ENSG00000131018ENST00000448038p.E4667fs*34c.13998_13999insAInsertion - Frameshift
FAM178AENSG00000119906ENST00000370269p.P557fs*37c.1666delCDeletion - Frameshift
APOA1BPENSG00000163382ENST00000368233p.T102fs*54c.298delCDeletion - Frameshift
NLRP7ENSG00000167634ENST00000446217p.P207Pc.621C>TSubstitution - coding silent
OTOAENSG00000155719ENST00000286149p.A255Tc.763G>ASubstitution - Missense
CACNA1IENSG00000100346ENST00000336649p.?c.5683-5T>GUnknown
EPT1ENSG00000138018ENST00000260585p.M237Vc.709A>GSubstitution - Missense
CECR5ENSG00000069998ENST00000155674p.T303Tc.909G>ASubstitution - coding silent
DEPDC5ENSG00000100150ENST00000400242p.H401Hc.1203C>TSubstitution - coding silent
CD8AENSG00000153563ENST00000538832p.A104Gc.311C>GSubstitution - Missense
PSMF1ENSG00000125818ENST00000246015p.P248Sc.742C>TSubstitution - Missense
TMEM239ENSG00000198326ENST00000554164p.A222Vc.665C>TSubstitution - Missense
ABHD12ENSG00000100997ENST00000450393p.A53Vc.158C>TSubstitution - Missense
CPNE9ENSG00000144550ENST00000383831p.?c.823-1G>TUnknown
FAM149AENSG00000109794ENST00000356371p.Q621Rc.1862A>GSubstitution - Missense
B3GALT5ENSG00000183778ENST00000380620p.V282Ac.845T>CSubstitution - Missense
LPHN2ENSG00000117114ENST00000449420p.Y820fs*21c.2456_2457insAInsertion - Frameshift
ENST00000301659_v70p.D75Dc.225C>TSubstitution - coding silent
C1QTNF1ENSG00000173918ENST00000354124p.V175Ac.524T>CSubstitution - Missense
ENST00000586406p.R22Hc.65G>ASubstitution - Missense
STEAP3ENSG00000115107ENST00000409811p.H301Hc.903C>TSubstitution - coding silent
RAB3GAP1ENSG00000115839ENST00000539493p.D257Vc.770A>TSubstitution - Missense
RAB3GAP1ENSG00000115839ENST00000539493p.L380Sc.1139T>CSubstitution - Missense
DOPEY1ENSG00000083097ENST00000237163p.T1770Nc.5309C>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.?c.582-6A>GUnknown
TRERF1ENSG00000124496ENST00000372917p.K511Nc.1533G>TSubstitution - Missense
DHX57ENSG00000163214ENST00000295373p.V1383Dc.4148T>ASubstitution - Missense
C17orf53ENSG00000125319ENST00000319977p.S444Fc.1331C>TSubstitution - Missense
ZNF232ENSG00000167840ENST00000250076p.L264Lc.792A>GSubstitution - coding silent
AOC3ENSG00000131471ENST00000308423p.H414Yc.1240C>TSubstitution - Missense
SPAG9ENSG00000008294ENST00000262013p.L77Lc.229C>TSubstitution - coding silent
TRIM37ENSG00000108395ENST00000262294p.S893Sc.2679A>GSubstitution - coding silent
FBXO11ENSG00000138081ENST00000403359p.F887Sc.2660T>CSubstitution - Missense
FKBP10ENSG00000141756ENST00000544340p.R51Qc.152G>ASubstitution - Missense
THADAENSG00000115970ENST00000405975p.?c.2311+2T>AUnknown
FBN2ENSG00000138829ENST00000262464p.C2599Cc.7797C>TSubstitution - coding silent
SNCAIPENSG00000064692ENST00000261368p.S306Sc.918C>ASubstitution - coding silent
TRIML2ENSG00000179046ENST00000512729p.L291Fc.871C>TSubstitution - Missense
ZNF567ENSG00000189042ENST00000360729p.H496Nc.1486C>ASubstitution - Missense
SPATA31E1ENSG00000177992ENST00000325643p.S445fs*127c.1329delCDeletion - Frameshift
EFTUD2ENSG00000108883ENST00000426333p.?c.702+1delgUnknown
CAMTA2ENSG00000108509ENST00000348066p.M761Tc.2282T>CSubstitution - Missense
SLC4A1ENSG00000004939ENST00000262418p.?c.2482-9C>TUnknown
SGK1ENSG00000118515ENST00000237305p.?c.786+6C>TUnknown
BCLAF1ENSG00000029363ENST00000531224p.N309Nc.927T>CSubstitution - coding silent
ZNF292ENSG00000188994ENST00000369577p.L2131Sc.6392T>CSubstitution - Missense
PDE7BENSG00000171408ENST00000308191p.?c.580-3C>TUnknown
UBE3DENSG00000118420ENST00000369747p.N298Nc.894T>CSubstitution - coding silent
PCDHGB1ENSG00000254221ENST00000523390p.P806Pc.2418G>ASubstitution - coding silent
BRD8ENSG00000112983ENST00000254900p.D337Gc.1010A>GSubstitution - Missense
BRD8ENSG00000112983ENST00000254900p.K149fs*10c.446delADeletion - Frameshift
BRD8ENSG00000112983ENST00000230901p.K149fs*10c.446delADeletion - Frameshift
KDM3BENSG00000120733ENST00000314358p.P1641Sc.4921C>TSubstitution - Missense
HARS2ENSG00000112855ENST00000230771p.G369Dc.1106G>ASubstitution - Missense
GFRA3ENSG00000146013ENST00000274721p.S388Sc.1164C>ASubstitution - coding silent
TRPV3ENSG00000167723ENST00000576742p.I534Tc.1601T>CSubstitution - Missense
ADRA1BENSG00000170214ENST00000306675p.R44Sc.132G>TSubstitution - Missense
VARS2ENSG00000137411ENST00000321897p.?c.3090+8T>CUnknown
OR11A1ENSG00000204694ENST00000377149p.A301Tc.901G>ASubstitution - Missense
MCF2ENSG00000101977ENST00000519895p.A376Ac.1128A>GSubstitution - coding silent
PRXENSG00000105227ENST00000324001p.Q604*c.1810C>TSubstitution - Nonsense
XM_498396.1p.Q64Qc.192G>ASubstitution - coding silent
YAE1D1ENSG00000241127ENST00000223273p.N96Ic.287A>TSubstitution - Missense
CCDC129ENSG00000180347ENST00000319386p.N621Sc.1862A>GSubstitution - Missense
HECW1ENSG00000002746ENST00000395891p.P784Pc.2352G>ASubstitution - coding silent
ACTN4ENSG00000130402ENST00000252699p.E457Kc.1369G>ASubstitution - Missense
ACTN4ENSG00000130402ENST00000252699p.T842Tc.2526G>ASubstitution - coding silent
SLU7ENSG00000164609ENST00000297151p.G146Cc.436G>TSubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.E1093Gc.3278A>GSubstitution - Missense
CCNJLENSG00000135083ENST00000393977p.A414Tc.1240G>ASubstitution - Missense
PI4KAENSG00000241973ENST00000572273p.K1183Nc.3549G>TSubstitution - Missense
PI4KAENSG00000241973ENST00000572273p.F829Fc.2487C>TSubstitution - coding silent
SERPIND1ENSG00000099937ENST00000215727p.G297*c.889G>TSubstitution - Nonsense
AIFM3ENSG00000183773ENST00000399167p.D274Dc.822C>TSubstitution - coding silent
KIAA1671ENSG00000197077ENST00000358431p.R996Kc.2987G>ASubstitution - Missense
RFX1ENSG00000132005ENST00000254325p.S644Sc.1932C>TSubstitution - coding silent
NDUFAB1ENSG00000004779ENST00000007516p.Y85Cc.254A>GSubstitution - Missense
ENST00000316490p.H479Yc.1435C>TSubstitution - Missense
HYDINENSG00000157423ENST00000288168p.H496Yc.1486C>TSubstitution - Missense
EEF2KENSG00000103319ENST00000263026p.Q286Kc.856C>ASubstitution - Missense
PSG1ENSG00000231924ENST00000312439p.N199Nc.597C>TSubstitution - coding silent
ARHGEF1ENSG00000076928ENST00000337665p.D298Vc.893A>TSubstitution - Missense
TNRC6AENSG00000090905ENST00000395799p.A592Ac.1776A>GSubstitution - coding silent
WFDC5ENSG00000175121ENST00000307971p.R115Qc.344G>ASubstitution - Missense
NEBENSG00000183091ENST00000397345p.K8302Tc.24905A>CSubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.G741Cc.2221G>TSubstitution - Missense
ZNF234ENSG00000263002ENST00000426739p.C489Cc.1467C>TSubstitution - coding silent
LEMD2ENSG00000161904ENST00000293760p.A359Vc.1076C>TSubstitution - Missense
C6orf106ENSG00000196821ENST00000374023p.V26Vc.78G>ASubstitution - coding silent
UHRF1BP1ENSG00000065060ENST00000192788p.?c.1432-10G>AUnknown
PABPC4LENSG00000254535ENST00000529122p.S276Sc.828T>CSubstitution - coding silent
RNF130ENSG00000113269ENST00000521389p.A154Tc.460G>ASubstitution - Missense
TRIM7ENSG00000146054ENST00000274773p.?c.1025-8G>AUnknown
TRIM7ENSG00000146054ENST00000393319p.?c.479-8G>AUnknown
SHOX2ENSG00000168779ENST00000425436p.G153Wc.457G>TSubstitution - Missense
CFIENSG00000205403ENST00000394634p.K37fs*65c.111delADeletion - Frameshift
FAT4ENSG00000196159ENST00000394329p.S2545Sc.7635A>CSubstitution - coding silent
NHSL1ENSG00000135540ENST00000342260p.L528Lc.1582C>TSubstitution - coding silent
ANKRD28ENSG00000206560ENST00000383777p.D1074Dc.3222C>TSubstitution - coding silent
SP100ENSG00000067066ENST00000264052p.?c.108-2A>GUnknown
PHKA2ENSG00000044446ENST00000379942p.?c.2677-2A>GUnknown
ZDHHC14ENSG00000175048ENST00000359775p.P148Lc.443C>TSubstitution - Missense
SMEK2ENSG00000138041ENST00000345102p.G526Gc.1578A>GSubstitution - coding silent
ALDH1L1ENSG00000144908ENST00000393434p.E429fs*12c.1285_1286insGInsertion - Frameshift
C2orf73ENSG00000177994ENST00000398634p.P234Sc.700C>TSubstitution - Missense
FBXO36ENSG00000153832ENST00000283946p.G52Ec.155G>ASubstitution - Missense
TRIP12ENSG00000153827ENST00000283943p.C679Cc.2037T>CSubstitution - coding silent
ATXN2LENSG00000168488ENST00000340394p.V1029Vc.3087T>CSubstitution - coding silent
HS3ST4ENSG00000182601ENST00000331351p.I274Vc.820A>GSubstitution - Missense
TYW1ENSG00000198874ENST00000359626p.D9Ac.26A>CSubstitution - Missense
GTPBP8ENSG00000163607ENST00000383678p.T206fs*10c.616_617insAInsertion - Frameshift
EPHB1ENSG00000154928ENST00000398015p.A886Sc.2656G>TSubstitution - Missense
NM_003866.1p.V594Vc.1782G>TSubstitution - coding silent
CCDC58ENSG00000160124ENST00000291458p.?c.385-1G>AUnknown
ATP1B3ENSG00000069849ENST00000286371p.?c.110-9C>TUnknown
NM_006596.3p.?c.6035-6A>TUnknown
STXBP5LENSG00000145087ENST00000273666p.K493Kc.1479A>GSubstitution - coding silent
HRH1ENSG00000196639ENST00000397056p.*488*c.1464A>GSubstitution - coding silent
TBC1D10BENSG00000169221ENST00000409939p.A535Vc.1604C>TSubstitution - Missense
POTEFENSG00000196604ENST00000409914p.Y833Yc.2499C>TSubstitution - coding silent
SULT2B1ENSG00000088002ENST00000323090p.L161Pc.482T>CSubstitution - Missense
SEMA6BENSG00000167680ENST00000301293p.Q343Qc.1029G>ASubstitution - coding silent
TUBGCP6ENSG00000128159ENST00000248846p.A335Dc.1004C>ASubstitution - Missense
NBEAL2ENSG00000160796ENST00000292309p.V1832Ac.5495T>CSubstitution - Missense
NOXA1ENSG00000188747ENST00000341349p.?c.699-4C>AUnknown
SLC6A20ENSG00000163817ENST00000353278p.S369Ic.1106G>TSubstitution - Missense
ZNF486ENSG00000256229ENST00000335117p.C383Yc.1148G>ASubstitution - Missense
TAF1ENSG00000147133ENST00000373790p.H642Yc.1924C>TSubstitution - Missense
FREM1ENSG00000164946ENST00000422223p.Q1622Hc.4866A>TSubstitution - Missense
UNC13AENSG00000130477ENST00000519716p.?c.2187-8C>AUnknown
ATP7AENSG00000165240ENST00000341514p.A1213Tc.3637G>ASubstitution - Missense
KCNN1ENSG00000105642ENST00000222249p.T375Nc.1124C>ASubstitution - Missense
FAM133AENSG00000179083ENST00000538690p.T146Tc.438G>ASubstitution - coding silent
ENST00000255667p.V72Vc.216A>GSubstitution - coding silent
PPAN-P2RY11ENSG00000243207ENST00000393796p.R759Sc.2277G>TSubstitution - Missense
P2RY11ENSG00000244165ENST00000321826p.R339Sc.1017G>TSubstitution - Missense
CKMT2ENSG00000131730ENST00000254035p.V118Mc.352G>ASubstitution - Missense
PCDH11XENSG00000102290ENST00000504220p.?c.3034-8T>CUnknown
GALR1ENSG00000166573ENST00000299727p.V201Vc.603G>ASubstitution - coding silent
GPR98ENSG00000164199ENST00000405460p.T2119Ac.6355A>GSubstitution - Missense
DSELENSG00000171451ENST00000310045p.L1196Vc.3586T>GSubstitution - Missense
NME6ENSG00000172113ENST00000421967p.?c.218-3C>TUnknown
RNF8ENSG00000112130ENST00000373479p.C406Yc.1217G>ASubstitution - Missense
KCNQ5ENSG00000185760ENST00000370398p.G273*c.817G>TSubstitution - Nonsense
TRPS1ENSG00000104447ENST00000395715p.S1128Nc.3383G>ASubstitution - Missense
DCBLD1ENSG00000164465ENST00000338728p.L469Mc.1405C>ASubstitution - Missense
ENST00000368626p.?c.799+1G>AUnknown
COL21A1ENSG00000124749ENST00000244728p.?c.2608+1G>AUnknown
SUN2ENSG00000100242ENST00000405510p.I544Ic.1632C>TSubstitution - coding silent
FAM193AENSG00000125386ENST00000382839p.I1115Nc.3344T>ASubstitution - Missense
C5orf24ENSG00000181904ENST00000394976p.H174Hc.522T>CSubstitution - coding silent
MCM9ENSG00000111877ENST00000316316p.D227Nc.679G>ASubstitution - Missense
MCM9ENSG00000111877ENST00000316316p.N95Sc.284A>GSubstitution - Missense
MTBPENSG00000172167ENST00000305949p.T700Ac.2098A>GSubstitution - Missense
ANKRD62ENSG00000181626ENST00000314074p.R8Hc.23G>ASubstitution - Missense
AFG3L2ENSG00000141385ENST00000269143p.A462Tc.1384G>ASubstitution - Missense
LRRCC1ENSG00000133739ENST00000414626p.F578fs*10c.1729delTDeletion - Frameshift
EPG5ENSG00000152223ENST00000282041p.K366Rc.1097A>GSubstitution - Missense
ROCK1ENSG00000067900ENST00000399799p.M489Tc.1466T>CSubstitution - Missense
PARD3BENSG00000116117ENST00000358768p.I88Tc.263T>CSubstitution - Missense
TMEM237ENSG00000155755ENST00000409883p.K402Ec.1204A>GSubstitution - Missense
HADHAENSG00000084754ENST00000457468p.P15Qc.44C>ASubstitution - Missense
CECR5ENSG00000069998ENST00000336737p.T333Tc.999G>ASubstitution - coding silent
ENST00000356127p.Y27585Cc.82754A>GSubstitution - Missense
VSNL1ENSG00000163032ENST00000295156p.F64Sc.191T>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.W11945*c.35835G>ASubstitution - Nonsense
BPIFB2ENSG00000078898ENST00000170150p.P439fs*11c.1313delCDeletion - Frameshift
POTEHENSG00000198062ENST00000343518p.A3Ac.9T>CSubstitution - coding silent
TMEFF2ENSG00000144339ENST00000409056p.E79Gc.236A>GSubstitution - Missense
ATP2B2ENSG00000157087ENST00000360273p.A348Sc.1042G>TSubstitution - Missense
GAS8ENSG00000141013ENST00000268699p.R39Qc.116G>ASubstitution - Missense
DECR2ENSG00000242612ENST00000219481p.G269Gc.807C>TSubstitution - coding silent
TRAP1ENSG00000126602ENST00000246957p.S549Yc.1646C>ASubstitution - Missense
SENP7ENSG00000138468ENST00000394095p.L767Pc.2300T>CSubstitution - Missense
CCDC150ENSG00000144395ENST00000389175p.S582Ic.1745G>TSubstitution - Missense
AOX1ENSG00000138356ENST00000374700p.I1250Vc.3748A>GSubstitution - Missense
KIAA0226ENSG00000145016ENST00000273582p.V218fs*16c.643_644insCInsertion - Frameshift
SLC4A7ENSG00000033867ENST00000455077p.I533Vc.1597A>GSubstitution - Missense
TACR3ENSG00000169836ENST00000304883p.R422Sc.1266G>TSubstitution - Missense
LTBP1ENSG00000049323ENST00000407925p.P454Sc.1360C>TSubstitution - Missense
FILIP1LENSG00000168386ENST00000331335p.G825Cc.2473G>TSubstitution - Missense
TTC28ENSG00000100154ENST00000397906p.R1198Rc.3594G>ASubstitution - coding silent
TPST2ENSG00000128294ENST00000398110p.V73Mc.217G>ASubstitution - Missense
CNOT3ENSG00000088038ENST00000358389p.P323Ac.967C>GSubstitution - Missense
DEPDC5ENSG00000100150ENST00000400248p.L97Ic.289C>ASubstitution - Missense
XM_497119.1p.F258Lc.772T>CSubstitution - Missense
NLRP4ENSG00000160505ENST00000301295p.S808Sc.2424C>TSubstitution - coding silent
COL25A1ENSG00000188517ENST00000399132p.G574fs*36c.1719delADeletion - Frameshift
COL25A1ENSG00000188517ENST00000399132p.P560Sc.1678C>TSubstitution - Missense
NKD2ENSG00000145506ENST00000382730p.H102Rc.305A>GSubstitution - Missense
XIRP1ENSG00000168334ENST00000340369p.P617Sc.1849C>TSubstitution - Missense
MAN2A1ENSG00000112893ENST00000261483p.?c.2451+4A>GUnknown
LIMS1ENSG00000169756ENST00000542845p.A82Sc.244G>TSubstitution - Missense
LIMS1ENSG00000169756ENST00000393310p.L309Sc.926T>CSubstitution - Missense
ZNF749ENSG00000186230ENST00000334181p.R436Qc.1307G>ASubstitution - Missense
SAFBENSG00000160633ENST00000292123p.G786*c.2356G>TSubstitution - Nonsense
NLRP9ENSG00000185792ENST00000332836p.A539Sc.1615G>TSubstitution - Missense
LONP1ENSG00000196365ENST00000360614p.D302fs*5c.904delGDeletion - Frameshift
P2RY12ENSG00000169313ENST00000302632p.Y21Yc.63C>TSubstitution - coding silent
C5orf22ENSG00000082213ENST00000325366p.S258fs*25c.764_765insTInsertion - Frameshift
C2orf78ENSG00000187833ENST00000409561p.E701fs*18c.2096delADeletion - Frameshift
DNAH6ENSG00000115423ENST00000237449p.A3388Vc.10163C>TSubstitution - Missense
CES2ENSG00000172831ENST00000317091p.A94Tc.280G>ASubstitution - Missense
LRRTM4ENSG00000176204ENST00000409093p.P131Sc.391C>TSubstitution - Missense
ARHGEF26ENSG00000114790ENST00000356448p.A241fs*21c.717delCDeletion - Frameshift
CENPTENSG00000102901ENST00000219172p.R49fs*3c.144delCDeletion - Frameshift
CCDC79ENSG00000249961ENST00000433154p.A498Tc.1492G>ASubstitution - Missense
FHOD1ENSG00000135723ENST00000258201p.P592fs*36c.1775delCDeletion - Frameshift
LRRTM1ENSG00000162951ENST00000295057p.T405Kc.1214C>ASubstitution - Missense
TET3ENSG00000187605ENST00000409262p.E1289Gc.3866A>GSubstitution - Missense
CCDC135ENSG00000159625ENST00000360716p.R569Rc.1707A>GSubstitution - coding silent
MYCT1ENSG00000120279ENST00000367245p.S109Nc.326G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.N1267Kc.3801T>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.N1267Kc.3801T>ASubstitution - Missense
GRM1ENSG00000152822ENST00000282753p.V16Ac.47T>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.E504Gc.1511A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.D2645Dc.7935C>TSubstitution - coding silent
PCDH10ENSG00000138650ENST00000264360p.K779Tc.2336A>CSubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.A2971Ac.8913C>ASubstitution - coding silent
MPDU1ENSG00000129255ENST00000250124p.V14Ac.41T>CSubstitution - Missense
RNF128ENSG00000133135ENST00000255499p.P161fs*4c.480delCDeletion - Frameshift
FANCCENSG00000158169ENST00000289081p.S156Sc.468A>GSubstitution - coding silent
ENST00000365713p.Q577Rc.1730A>GSubstitution - Missense
TRIP10ENSG00000125733ENST00000313285p.V267Dc.800T>ASubstitution - Missense
AIFM1ENSG00000156709ENST00000287295p.?c.474+8G>AUnknown
PLEKHF1ENSG00000166289ENST00000436066p.S108Tc.322T>ASubstitution - Missense
ENST00000300671p.A569Ac.1707C>GSubstitution - coding silent
ZNF91ENSG00000167232ENST00000300619p.A849Tc.2545G>ASubstitution - Missense
RPA1ENSG00000132383ENST00000254719p.E363fs*60c.1082delGDeletion - Frameshift
RBM41ENSG00000089682ENST00000203616p.E249Kc.745G>ASubstitution - Missense
ENST00000226258p.R6Rc.18G>ASubstitution - coding silent
KIAA1045ENSG00000122733ENST00000242315p.I384Ic.1152C>TSubstitution - coding silent
DNAJB5ENSG00000137094ENST00000312316p.E47Ec.141G>ASubstitution - coding silent
OR13J1ENSG00000168828ENST00000377981p.V248Lc.742G>TSubstitution - Missense
RUSC2ENSG00000198853ENST00000361226p.R1475*c.4423C>TSubstitution - Nonsense
DCAF10ENSG00000122741ENST00000377724p.S177Sc.531G>ASubstitution - coding silent
ZFP64ENSG00000020256ENST00000216923p.T91Tc.273C>ASubstitution - coding silent
TSHZ2ENSG00000182463ENST00000371497p.L587Lc.1759C>TSubstitution - coding silent
PTPRZ1ENSG00000106278ENST00000393386p.S2294Yc.6881C>ASubstitution - Missense
SLC4A11ENSG00000088836ENST00000380056p.A551Sc.1651G>TSubstitution - Missense
RALGAPBENSG00000170471ENST00000397040p.L1118fs*12c.3353_3354insTInsertion - Frameshift
PRR12ENSG00000126464ENST00000418929p.P1136Lc.3407C>TSubstitution - Missense
RUNX1T1ENSG00000079102ENST00000360348p.?c.630-6C>AUnknown
TMEM2ENSG00000135048ENST00000377044p.T1197Nc.3590C>ASubstitution - Missense
SH2D4AENSG00000104611ENST00000265807p.W347fs*13c.1038_1039insCInsertion - Frameshift
ENST00000325394p.P83fs*3c.248delCDeletion - Frameshift
ABHD6ENSG00000163686ENST00000295962p.P68Sc.202C>TSubstitution - Missense
KIF13BENSG00000197892ENST00000524189p.V503Ac.1508T>CSubstitution - Missense
MAGI1ENSG00000151276ENST00000330909p.D615Dc.1845C>TSubstitution - coding silent
ERC2ENSG00000187672ENST00000288221p.K540Nc.1620A>TSubstitution - Missense
ENST00000420871_v68p.T978Sc.2932A>TSubstitution - Missense
PDE4AENSG00000065989ENST00000293683p.Y550*c.1650C>ASubstitution - Nonsense
YIPF2ENSG00000130733ENST00000253031p.G242Gc.726G>ASubstitution - coding silent
CEP112ENSG00000154240ENST00000392769p.E582fs*4c.1743delADeletion - Frameshift
KCNH6ENSG00000173826ENST00000583023p.T70Ic.209C>TSubstitution - Missense
SCN4AENSG00000007314ENST00000435607p.I78Tc.233T>CSubstitution - Missense
AXIN2ENSG00000168646ENST00000307078p.I139Vc.415A>GSubstitution - Missense
C16orf71ENSG00000166246ENST00000299320p.V304Ac.911T>CSubstitution - Missense
NLRC5ENSG00000140853ENST00000262510p.L1138fs*10c.3409delCDeletion - Frameshift
ADAM17ENSG00000151694ENST00000310823p.A368Vc.1103C>TSubstitution - Missense
CD8AENSG00000153563ENST00000283635p.L177fs*>59c.528delGDeletion - Frameshift
TEKT4ENSG00000163060ENST00000295201p.N353Dc.1057A>GSubstitution - Missense
ENST00000420871_v68p.M816Lc.2446A>TSubstitution - Missense
HUNKENSG00000142149ENST00000270112p.E633fs*53c.1886_1887insCInsertion - Frameshift
HTTENSG00000197386ENST00000355072p.G2278Gc.6834G>ASubstitution - coding silent
USP25ENSG00000155313ENST00000285679p.L911Lc.2733G>ASubstitution - coding silent
ROBO2ENSG00000185008ENST00000461745p.S371Tc.1111T>ASubstitution - Missense
NM_025134.3p.T2733Ic.8198C>TSubstitution - Missense
CYYR1ENSG00000166265ENST00000435845p.P92Hc.275C>ASubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.D312Dc.936T>CSubstitution - coding silent
MTUS1ENSG00000129422ENST00000381861p.L331Fc.991C>TSubstitution - Missense
MGAMENSG00000257335ENST00000549489p.N505Kc.1515C>ASubstitution - Missense
ETV1ENSG00000006468ENST00000403527p.E399Gc.1196A>GSubstitution - Missense
PLECENSG00000178209ENST00000436759p.Q3630Qc.10890G>ASubstitution - coding silent
SEMA3FENSG00000001617ENST00000002829p.Y138Hc.412T>CSubstitution - Missense
HIST1H2ACENSG00000180573ENST00000377791p.Q105Rc.314A>GSubstitution - Missense
SCAF4ENSG00000156304ENST00000286835p.G369Rc.1105G>ASubstitution - Missense
ABHD12ENSG00000100997ENST00000339157p.A98Vc.293C>TSubstitution - Missense
NLRP2ENSG00000022556ENST00000543010p.Q279Qc.837A>GSubstitution - coding silent
CCDC68ENSG00000166510ENST00000337363p.?c.118-10C>TUnknown
NM_052947p.E1160Dc.3480A>CSubstitution - Missense
ENST00000283050p.L170Fc.510G>TSubstitution - Missense
IFT140ENSG00000187535ENST00000426508p.K1096Nc.3288G>TSubstitution - Missense
HSPA14ENSG00000187522ENST00000378372p.I476Tc.1427T>CSubstitution - Missense
ANKRD26ENSG00000107890ENST00000376070p.A540Vc.1619C>TSubstitution - Missense
CASC10ENSG00000204682ENST00000377113p.C109Yc.326G>ASubstitution - Missense
C10orf67ENSG00000179133ENST00000376500p.I167Nc.500T>ASubstitution - Missense
BRINP2ENSG00000198797ENST00000361539p.Y237Cc.710A>GSubstitution - Missense
ENST00000316851_v65p.Q516Hc.1548G>TSubstitution - Missense
SLC16A4ENSG00000168679ENST00000437429p.A107Vc.320C>TSubstitution - Missense
UBR4ENSG00000127481ENST00000375254p.Q1840Rc.5519A>GSubstitution - Missense
ENST00000316851_v65p.D153fs*22c.456_457insAInsertion - Frameshift
PAX7ENSG00000009709ENST00000420770p.I188Ic.564C>TSubstitution - coding silent
PRAMEF11ENSG00000204513ENST00000535591p.V111Vc.333A>GSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369354p.K574Ec.1720A>GSubstitution - Missense
CD163ENSG00000177575ENST00000396620p.L1090Ic.3268C>ASubstitution - Missense
SLC27A3ENSG00000143554ENST00000368661p.P434fs*41c.1297delCDeletion - Frameshift
TUBGCP5ENSG00000153575ENST00000283645p.P425Pc.1275T>CSubstitution - coding silent
KCNN3ENSG00000143603ENST00000271915p.R340Hc.1019G>ASubstitution - Missense
CYFIP1ENSG00000068793ENST00000313077p.R440Cc.1318C>TSubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.S720Yc.2159C>ASubstitution - Missense
SLC26A9ENSG00000174502ENST00000367134p.C800fs*7c.2391_2392insGInsertion - Frameshift
CCDC81ENSG00000149201ENST00000354755p.R169fs*5c.501_502insAInsertion - Frameshift
PIK3C2BENSG00000133056ENST00000367187p.?c.3686+1G>AUnknown
NRXN3ENSG00000021645ENST00000335750p.F721Sc.2162T>CSubstitution - Missense
DUTENSG00000128951ENST00000331200p.?c.703-7C>TUnknown
FAM177A1ENSG00000151327ENST00000280987p.V76Vc.228C>TSubstitution - coding silent
ZYG11AENSG00000203995ENST00000371528p.S577Sc.1731C>TSubstitution - coding silent
EGFLAMENSG00000164318ENST00000354891p.S367fs*12c.1097_1098insGInsertion - Frameshift
ARID4AENSG00000032219ENST00000355431p.A817Tc.2449G>ASubstitution - Missense
TYRO3ENSG00000092445ENST00000263798p.D760Dc.2280C>TSubstitution - coding silent
UNC79ENSG00000133958ENST00000256339p.L2011fs*3c.6029delTDeletion - Frameshift
KBTBD13ENSG00000234438ENST00000432196p.D401Nc.1201G>ASubstitution - Missense
ZNF609ENSG00000180357ENST00000326648p.E930Ac.2789A>CSubstitution - Missense
DEPDC1ENSG00000024526ENST00000456315p.N159fs*8c.472_473insAInsertion - Frameshift
NEGR1ENSG00000172260ENST00000357731p.N151Nc.453T>CSubstitution - coding silent
NEXNENSG00000162614ENST00000334785p.R484*c.1450C>TSubstitution - Nonsense
CLCA4ENSG00000016602ENST00000370563p.P887Pc.2661T>CSubstitution - coding silent
PTGER3ENSG00000050628ENST00000370924p.A176Tc.526G>ASubstitution - Missense
PTGER3ENSG00000050628ENST00000460330p.A176Tc.526G>ASubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.G3745Rc.11233G>ASubstitution - Missense
CYP46A1ENSG00000036530ENST00000261835p.R327Mc.980G>TSubstitution - Missense
SPATA13ENSG00000182957ENST00000382095p.E392Ec.1176G>ASubstitution - coding silent
NM_015976.2p.R287Ic.860G>TSubstitution - Missense
ENST00000456228p.?c.1851+8G>AUnknown
AVENENSG00000169857ENST00000306730p.Q269Hc.807G>TSubstitution - Missense
NM_005870.3p.?c.305+6T>AUnknown
UACAENSG00000137831ENST00000379983p.F877fs*2c.2628_2629insAInsertion - Frameshift
RASGRP1ENSG00000172575ENST00000310803p.L79Lc.237G>ASubstitution - coding silent
SKP2ENSG00000145604ENST00000274255p.K73Kc.219A>GSubstitution - coding silent
TDRD15ENSG00000218819ENST00000405799p.I1651Kc.4952T>ASubstitution - Missense
ARHGAP27ENSG00000159314ENST00000290470p.R243Hc.728G>ASubstitution - Missense
ZNF562ENSG00000171466ENST00000453372p.Q373Qc.1119G>ASubstitution - coding silent
TLDC1ENSG00000140950ENST00000343629p.K216Kc.648G>ASubstitution - coding silent
ZNF561ENSG00000171469ENST00000354661p.T186Sc.556A>TSubstitution - Missense
MED18ENSG00000130772ENST00000373842p.G14fs*5c.37delGDeletion - Frameshift
DEPDC1ENSG00000024526ENST00000456315p.R622Cc.1864C>TSubstitution - Missense
PDE7AENSG00000205268ENST00000379419p.P60Sc.178C>TSubstitution - Missense
PMS1ENSG00000064933ENST00000441310p.A601Vc.1802C>TSubstitution - Missense
FN1ENSG00000115414ENST00000336916p.T1370Ac.4108A>GSubstitution - Missense
ENST00000356127p.A3222Vc.9665C>TSubstitution - Missense
MARCH4ENSG00000144583ENST00000273067p.C21*c.63C>ASubstitution - Nonsense
MYO1BENSG00000128641ENST00000392318p.?c.251+6T>CUnknown
PXDNLENSG00000147485ENST00000356297p.D1177Vc.3530A>TSubstitution - Missense
SPAG16ENSG00000144451ENST00000331683p.S334Nc.1001G>ASubstitution - Missense
CENPIENSG00000102384ENST00000423383p.?c.1566-1G>AUnknown
SLC25A44ENSG00000160785ENST00000359511p.M266Vc.796A>GSubstitution - Missense
CCDC15ENSG00000149548ENST00000344762p.R7*c.19C>TSubstitution - Nonsense
LRRC4CENSG00000148948ENST00000278198p.F239Fc.717C>TSubstitution - coding silent
SEMA4AENSG00000196189ENST00000368285p.?c.983+8G>AUnknown
MEF2DENSG00000116604ENST00000348159p.Y33Cc.98A>GSubstitution - Missense
RAPSNENSG00000165917ENST00000298854p.L244Lc.732G>TSubstitution - coding silent
GALNT6ENSG00000139629ENST00000356317p.H546Rc.1637A>GSubstitution - Missense
GOLGA3ENSG00000090615ENST00000456883p.Q275Rc.824A>GSubstitution - Missense
ANKRD33ENSG00000167612ENST00000301190p.T234Sc.700A>TSubstitution - Missense
TARBP1ENSG00000059588ENST00000040877p.L1183Lc.3549T>CSubstitution - coding silent
IFI16ENSG00000163565ENST00000295809p.Y5fs*15c.5_6insAInsertion - Frameshift
PRKAG1ENSG00000181929ENST00000548065p.S27Sc.81C>TSubstitution - coding silent
GALNT6ENSG00000139629ENST00000356317p.P41Lc.122C>TSubstitution - Missense
B4GALNT1ENSG00000135454ENST00000341156p.A459Ac.1377T>ASubstitution - coding silent
A2ML1ENSG00000166535ENST00000299698p.K112fs*3c.331delADeletion - Frameshift
OR10J1ENSG00000196184ENST00000423932p.Y143Yc.429C>TSubstitution - coding silent
CKBENSG00000166165ENST00000348956p.K298Kc.894G>ASubstitution - coding silent
TTC40ENSG00000171811ENST00000368586p.L936Lc.2808G>ASubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.V2618Dc.7853T>ASubstitution - Missense
ACIN1ENSG00000100813ENST00000262710p.A447fs*10c.1333_1334insCInsertion - Frameshift
OR4M1ENSG00000176299ENST00000315957p.L309fs*3c.926_927insTInsertion - Frameshift
EBF3ENSG00000108001ENST00000368648p.V477fs*4c.1430_1433delTCAGDeletion - Frameshift
OR4D11ENSG00000176200ENST00000313253p.S116Cc.347C>GSubstitution - Missense
HAPLN3ENSG00000140511ENST00000359595p.L78Mc.232C>ASubstitution - Missense
USP35ENSG00000118369ENST00000529308p.A288Vc.863C>TSubstitution - Missense
EDRF1ENSG00000107938ENST00000337623p.R552Gc.1654A>GSubstitution - Missense
BNC1ENSG00000169594ENST00000345382p.H53Yc.157C>TSubstitution - Missense
NM_001380.2p.F282Fc.846T>CSubstitution - coding silent
GRHL3ENSG00000158055ENST00000350501p.?c.266+2T>CUnknown
EIF3AENSG00000107581ENST00000369144p.R889Hc.2666G>ASubstitution - Missense
TACC2ENSG00000138162ENST00000453444p.L271Lc.811C>TSubstitution - coding silent
KCNK18ENSG00000186795ENST00000334549p.L135Lc.405C>TSubstitution - coding silent
FAM160B1ENSG00000151553ENST00000369250p.R719Kc.2156G>ASubstitution - Missense
TMEM132AENSG00000006118ENST00000005286p.R499Hc.1496G>ASubstitution - Missense
RAD9AENSG00000172613ENST00000307980p.S350Gc.1048A>GSubstitution - Missense
NBEAENSG00000172915ENST00000310336p.S307Sc.921C>TSubstitution - coding silent
SLC7A1ENSG00000139514ENST00000380752p.G141Cc.421G>TSubstitution - Missense
BRCA2ENSG00000139618ENST00000544455p.N1287fs*6c.3854delADeletion - Frameshift
CENPLENSG00000120334ENST00000367710p.R93Sc.279A>TSubstitution - Missense
SYNCENSG00000162520ENST00000409190p.A185Dc.554C>ASubstitution - Missense
SPENENSG00000065526ENST00000375759p.A2890Ac.8670C>TSubstitution - coding silent
SNRPNENSG00000128739ENST00000400100p.*241Qc.721T>CNonstop extension
ENST00000321016_v61p.Q147fs*14c.432_433insCCInsertion - Frameshift
NM_014448.2p.T349Sc.1046C>GSubstitution - Missense
SRRM4ENSG00000139767ENST00000267260p.R497Qc.1490G>ASubstitution - Missense
TTBK2ENSG00000128881ENST00000267890p.R1162Hc.3485G>ASubstitution - Missense
SNX27ENSG00000143376ENST00000368843p.E515Kc.1543G>ASubstitution - Missense
TP53BP1ENSG00000067369ENST00000263801p.H481Hc.1443T>CSubstitution - coding silent
FRMD5ENSG00000171877ENST00000417257p.A199Vc.596C>TSubstitution - Missense
GPATCH2LENSG00000089916ENST00000312858p.?c.1052+2T>CUnknown
AKR1C1ENSG00000187134ENST00000380872p.R276Hc.827G>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000395438p.N1083Nc.3249T>CSubstitution - coding silent
SZT2ENSG00000198198ENST00000372442p.?c.1705-1G>TUnknown
SZT2ENSG00000198198ENST00000562955p.?c.4231-1G>TUnknown
ITGA8ENSG00000077943ENST00000378076p.N645Kc.1935T>ASubstitution - Missense
PTCHD3ENSG00000182077ENST00000438700p.Y638Yc.1914C>TSubstitution - coding silent
PAPLNENSG00000100767ENST00000340738p.R325Rc.975G>CSubstitution - coding silent
GRIA4ENSG00000152578ENST00000282499p.P590Pc.1770C>TSubstitution - coding silent
DPAGT1ENSG00000172269ENST00000354202p.E212Dc.636G>TSubstitution - Missense
NAV2ENSG00000166833ENST00000360655p.E1705*c.5113G>TSubstitution - Nonsense
MUC6ENSG00000184956ENST00000421673p.V521Ic.1561G>ASubstitution - Missense
ENST00000399953_v65p.D455Gc.1364A>GSubstitution - Missense
CFHR5ENSG00000134389ENST00000256785p.N178fs*20c.533_534insAInsertion - Frameshift
CFHR5ENSG00000134389ENST00000367414p.N202fs*20c.605_606insAInsertion - Frameshift
RNGTTENSG00000111880ENST00000369475p.N324Nc.972T>CSubstitution - coding silent
SCAF8ENSG00000213079ENST00000367186p.P743Pc.2229T>CSubstitution - coding silent
ZNF112ENSG00000062370ENST00000536500p.I369Fc.1105A>TSubstitution - Missense
CD300LGENSG00000161649ENST00000539718p.D83Dc.249C>TSubstitution - coding silent
MPDZENSG00000107186ENST00000319217p.R744*c.2230C>TSubstitution - Nonsense
KDM6AENSG00000147050ENST00000382899p.G1230Gc.3690C>TSubstitution - coding silent
PCDH11XENSG00000102290ENST00000298274p.I1218Nc.3653T>ASubstitution - Missense
MUSKENSG00000030304ENST00000189978p.L516Lc.1548T>CSubstitution - coding silent
ARHGAP6ENSG00000047648ENST00000380718p.G650*c.1948G>TSubstitution - Nonsense
ATP11CENSG00000101974ENST00000370543p.N62Ic.185A>TSubstitution - Missense
EGFRENSG00000146648ENST00000275493p.V323Ic.967G>ASubstitution - Missense
KPNA3ENSG00000102753ENST00000261667p.E451Dc.1353A>TSubstitution - Missense
DGKBENSG00000136267ENST00000258767p.A519Vc.1556C>TSubstitution - Missense
GPR107ENSG00000148358ENST00000372406p.L102Lc.304C>TSubstitution - coding silent
ADAP1ENSG00000105963ENST00000539900p.?c.901-7C>AUnknown
MYH13ENSG00000006788ENST00000252172p.S624Fc.1871C>TSubstitution - Missense
SPENENSG00000065526ENST00000375759p.D1234Nc.3700G>ASubstitution - Missense
LYRM5ENSG00000205707ENST00000381356p.R81Hc.242G>ASubstitution - Missense
SEMA6DENSG00000137872ENST00000316364p.R257Hc.770G>ASubstitution - Missense
TECPR2ENSG00000196663ENST00000359520p.D42Nc.124G>ASubstitution - Missense
XM_291322.3p.R385Rc.1155C>TSubstitution - coding silent
KCNA4ENSG00000182255ENST00000328224p.G429fs*53c.1286delGDeletion - Frameshift
DOCK8ENSG00000107099ENST00000432829p.H813Hc.2439C>TSubstitution - coding silent
ABCA13ENSG00000179869ENST00000435803p.L2576Fc.7728A>TSubstitution - Missense
NM_025228.1p.R506*c.1516C>TSubstitution - Nonsense
PTCH1ENSG00000185920ENST00000375274p.N96fs*43c.287_288insAInsertion - Frameshift
TRDNENSG00000186439ENST00000398178p.E351fs*13c.1050delADeletion - Frameshift
VPS8ENSG00000156931ENST00000437079p.R932*c.2794C>TSubstitution - Nonsense
ELMSAN1ENSG00000156030ENST00000286523p.Q36fs*6c.106delCDeletion - Frameshift
PLCD3ENSG00000161714ENST00000322765p.T778Tc.2334G>ASubstitution - coding silent
SCN2AENSG00000136531ENST00000375427p.R1638Cc.4912C>TSubstitution - Missense
SHC1ENSG00000160691ENST00000448116p.V363fs*2c.1087delGDeletion - Frameshift
ISG20L2ENSG00000143319ENST00000368219p.L289fs*15c.865delCDeletion - Frameshift
KANK1ENSG00000107104ENST00000382293p.V269_G270insAVc.800_801insAGCTGTInsertion - In frame
ATN1ENSG00000111676ENST00000396684p.M371fs*1c.1105delCDeletion - Frameshift
MYO15AENSG00000091536ENST00000205890p.P395Pc.1185C>TSubstitution - coding silent
ZFHX4ENSG00000091656ENST00000521891p.P758Pc.2274G>ASubstitution - coding silent
CUX2ENSG00000111249ENST00000261726p.R1458Wc.4372C>TSubstitution - Missense
OSBPL6ENSG00000079156ENST00000392505p.V110fs*4c.320_321insTInsertion - Frameshift
SMCR8ENSG00000176994ENST00000406438p.T862Pc.2584A>CSubstitution - Missense
DZIP1ENSG00000134874ENST00000361396p.C444Cc.1332T>CSubstitution - coding silent
UBE4BENSG00000130939ENST00000253251p.P191Rc.572C>GSubstitution - Missense
TGFB2ENSG00000092969ENST00000366929p.S297Sc.891C>TSubstitution - coding silent
ZNF678ENSG00000181450ENST00000397097p.L93Ic.277C>ASubstitution - Missense
ENSG00000150076ENST00000302316p.?c.1166-500_1249+14del598Unknown
FNDC3AENSG00000102531ENST00000492622p.K1057Kc.3171A>GSubstitution - coding silent
HECTD4ENSG00000173064ENST00000377560p.C2747Cc.8241C>TSubstitution - coding silent
SH2D7ENSG00000183476ENST00000328828p.Y310Hc.928T>CSubstitution - Missense
ITGA7ENSG00000135424ENST00000257879p.G977Gc.2931C>ASubstitution - coding silent
ENST00000326184p.Q383Qc.1149G>ASubstitution - coding silent
DEF8ENSG00000140995ENST00000268676p.T431Mc.1292C>TSubstitution - Missense
TRAF5ENSG00000082512ENST00000336184p.Q337*c.1009C>TSubstitution - Nonsense
ALKBH3ENSG00000166199ENST00000302708p.E2Dc.6G>TSubstitution - Missense
OR52I2ENSG00000226288ENST00000312614p.L61Lc.181C>TSubstitution - coding silent
OR52I2ENSG00000226288ENST00000312614p.S288Tc.862T>ASubstitution - Missense
MIB2ENSG00000197530ENST00000355826p.V651Vc.1953T>CSubstitution - coding silent
ARHGEF11ENSG00000132694ENST00000368194p.P594Sc.1780C>TSubstitution - Missense
RNLSENSG00000184719ENST00000371947p.L119Sc.356T>CSubstitution - Missense
OSBPL8ENSG00000091039ENST00000261183p.E34Kc.100G>ASubstitution - Missense
MBD6ENSG00000166987ENST00000355673p.R390Qc.1169G>ASubstitution - Missense
DCTN2ENSG00000175203ENST00000434715p.P205fs*32c.614delCDeletion - Frameshift
OBSCNENSG00000154358ENST00000570156p.L8215fs*20c.24637_24638insCCInsertion - Frameshift
NAB2ENSG00000166886ENST00000300131p.T321Ac.961A>GSubstitution - Missense
A2ML1ENSG00000166535ENST00000299698p.Y623Yc.1869C>TSubstitution - coding silent
PBX2ENSG00000204304ENST00000375050p.L91Lc.273G>ASubstitution - coding silent
RGL2ENSG00000237441ENST00000497454p.K575Kc.1725G>ASubstitution - coding silent
ENST00000319396p.G638Vc.1913G>TSubstitution - Missense
PXDNENSG00000130508ENST00000252804p.E330*c.988G>TSubstitution - Nonsense
PHF20L1ENSG00000129292ENST00000220847p.?c.1501+7_1501+8insAUnknown
PHF20L1ENSG00000129292ENST00000395386p.E550fs*52c.1648delGDeletion - Frameshift
ETFDHENSG00000171503ENST00000511912p.Y361Yc.1083C>TSubstitution - coding silent
ATP13A4ENSG00000127249ENST00000342695p.T262Tc.786G>ASubstitution - coding silent
ENST00000318560_v70p.K508fs*12c.1520delADeletion - Frameshift
ATP13A4ENSG00000127249ENST00000295548p.T262Tc.786G>ASubstitution - coding silent
FAM102AENSG00000167106ENST00000373095p.K68delKc.203_205delAGADeletion - In frame
CLCN2ENSG00000114859ENST00000265593p.A293Vc.878C>TSubstitution - Missense
PKN3ENSG00000160447ENST00000291906p.P172Rc.515C>GSubstitution - Missense
METTL6ENSG00000206562ENST00000598878p.N44Kc.132T>ASubstitution - Missense
ZEB1ENSG00000148516ENST00000446923p.E760Dc.2280G>TSubstitution - Missense
WNK2ENSG00000165238ENST00000427277p.T653Ic.1958C>TSubstitution - Missense
SCAIENSG00000173611ENST00000373549p.S66Sc.198C>TSubstitution - coding silent
DLC1ENSG00000164741ENST00000276297p.S103Sc.309C>TSubstitution - coding silent
DLC1ENSG00000164741ENST00000316609p.S103Sc.309C>TSubstitution - coding silent
SCN1AENSG00000144285ENST00000303395p.N601Nc.1803C>TSubstitution - coding silent
NM_144488.2p.E388fs*21c.1158delCDeletion - Frameshift
ANO6ENSG00000177119ENST00000441606p.?c.226-2A>GUnknown
NBEAENSG00000172915ENST00000400445p.?c.8129-4G>AUnknown
SCARB1ENSG00000073060ENST00000415380p.V72Ic.214G>ASubstitution - Missense
PPFIBP1ENSG00000110841ENST00000535047p.N98Nc.294C>TSubstitution - coding silent
CTNND1ENSG00000198561ENST00000361391p.R808Rc.2424C>TSubstitution - coding silent
TRIM22ENSG00000132274ENST00000379965p.G406Dc.1217G>ASubstitution - Missense
C15orf39ENSG00000167173ENST00000567617p.T877Tc.2631G>ASubstitution - coding silent
ZNF646ENSG00000167395ENST00000394979p.G756Gc.2268C>TSubstitution - coding silent
RALGAPA1ENSG00000174373ENST00000258840p.?c.1449+3G>TUnknown
ACTN2ENSG00000077522ENST00000542672p.E848Dc.2544G>TSubstitution - Missense
ENST00000367790_v70p.A569Ac.1707C>ASubstitution - coding silent
AP4B1ENSG00000134262ENST00000369566p.V101Vc.303G>ASubstitution - coding silent
FAM193AENSG00000125386ENST00000324666p.A679Dc.2036C>ASubstitution - Missense
RGS12ENSG00000159788ENST00000306648p.A399Tc.1195G>ASubstitution - Missense
PSG1ENSG00000231924ENST00000595356p.N199Nc.597C>TSubstitution - coding silent
FAM129CENSG00000167483ENST00000595684p.L218Lc.652C>TSubstitution - coding silent
ZNF382ENSG00000161298ENST00000439428p.*550Qc.1648T>CNonstop extension
NLRP7ENSG00000167634ENST00000446217p.D573Vc.1718A>TSubstitution - Missense
ENST00000204005_v70p.Y243Yc.729C>TSubstitution - coding silent
UPF1ENSG00000005007ENST00000599848p.Q1058Hc.3174G>TSubstitution - Missense
LILRA2ENSG00000239998ENST00000251377p.G77Ec.230G>ASubstitution - Missense
STRN4ENSG00000090372ENST00000391910p.D333Hc.997G>CSubstitution - Missense
SIGLEC9ENSG00000129450ENST00000440804p.E155Ec.465G>ASubstitution - coding silent
COL3A1ENSG00000168542ENST00000317840p.?c.951+7A>GUnknown
DOCK10ENSG00000135905ENST00000409592p.Y2120Cc.6359A>GSubstitution - Missense
SLC12A6ENSG00000140199ENST00000397707p.F263Fc.789T>CSubstitution - coding silent
CAPN3ENSG00000092529ENST00000318023p.T3Tc.9C>TSubstitution - coding silent
RANBP10ENSG00000141084ENST00000425512p.A158Tc.472G>ASubstitution - Missense
MTA1ENSG00000182979ENST00000435036p.S179fs*18c.526_527insGInsertion - Frameshift
PPFIA2ENSG00000139220ENST00000333447p.L845fs*3c.2533delCDeletion - Frameshift
TBX19ENSG00000143178ENST00000441464p.S223fs*24c.668delCDeletion - Frameshift
SLC22A5ENSG00000197375ENST00000435065p.R306fs*10c.910_911insCInsertion - Frameshift
DNAH8ENSG00000124721ENST00000449981p.N1690fs*8c.5061_5062insAInsertion - Frameshift
CCDC180ENSG00000197816ENST00000411667p.K133fs*28c.395delADeletion - Frameshift
GUCY1A2ENSG00000152402ENST00000282249p.R172fs*4c.508_509insAInsertion - Frameshift
RPL6ENSG00000089009ENST00000424576p.F193Sc.578T>CSubstitution - Missense
ITGA2BENSG00000005961ENST00000377068p.A132Vc.395C>TSubstitution - Missense
CACNA1IENSG00000100346ENST00000336649p.L1567Lc.4701G>ASubstitution - coding silent
MTMR3ENSG00000100330ENST00000333027p.?c.3342-8A>GUnknown
SLC8A1ENSG00000183023ENST00000542024p.T822Tc.2466C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000448038p.?c.603-6A>GUnknown
AIG1ENSG00000146416ENST00000275235p.A161Sc.481G>TSubstitution - Missense
HLA-DPB1ENSG00000223865ENST00000416804p.P159Sc.475C>TSubstitution - Missense
ZNF462ENSG00000148143ENST00000457913p.P1613fs*11c.4834delCDeletion - Frameshift
MTO1ENSG00000135297ENST00000370300p.L225Lc.673C>TSubstitution - coding silent
SLC30A8ENSG00000164756ENST00000456015p.V294Dc.881T>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.Q2085*c.6253C>TSubstitution - Nonsense
FAM184AENSG00000111879ENST00000338891p.?c.1014+9A>CUnknown
LPAR1ENSG00000198121ENST00000374430p.I189Fc.565A>TSubstitution - Missense
DSTENSG00000151914ENST00000370769p.T6146Tc.18438A>GSubstitution - coding silent
TRIOBPENSG00000100106ENST00000406386p.T599Rc.1796C>GSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.G187fs*19c.555delCDeletion - Frameshift
ENST00000341338_v68p.E64Ec.192A>GSubstitution - coding silent
PKDCCENSG00000162878ENST00000294964p.D311Gc.932A>GSubstitution - Missense
ZZEF1ENSG00000074755ENST00000381638p.A1372Vc.4115C>TSubstitution - Missense
FRG1ENSG00000109536ENST00000226798p.T39Tc.117C>GSubstitution - coding silent
CC2D2AENSG00000048342ENST00000424120p.H1161Yc.3481C>TSubstitution - Missense
FXR1ENSG00000114416ENST00000357559p.S438Sc.1314C>TSubstitution - coding silent
CAMSAP1ENSG00000130559ENST00000389532p.S800Yc.2399C>ASubstitution - Missense
KIF27ENSG00000165115ENST00000297814p.S205Sc.615C>TSubstitution - coding silent
KCNK12ENSG00000184261ENST00000327876p.N333Sc.998A>GSubstitution - Missense
TMC1ENSG00000165091ENST00000297784p.G542Wc.1624G>TSubstitution - Missense
FCN2ENSG00000160339ENST00000291744p.A225fs*11c.669delGDeletion - Frameshift
HLFENSG00000108924ENST00000226067p.P172Lc.515C>TSubstitution - Missense
OXER1ENSG00000162881ENST00000378661p.S78fs*61c.224_225insGInsertion - Frameshift
RASL10BENSG00000141150ENST00000268864p.V68Dc.203T>ASubstitution - Missense
IRAK1BP1ENSG00000146243ENST00000369940p.E212Kc.634G>ASubstitution - Missense
DOPEY1ENSG00000083097ENST00000237163p.P2134Hc.6401C>ASubstitution - Missense
HKR1ENSG00000181666ENST00000324411p.K605fs*13c.1812_1813insGInsertion - Frameshift
ZNF527ENSG00000189164ENST00000356178p.T608Kc.1823C>ASubstitution - Missense
PNRC1ENSG00000146278ENST00000336032p.R49Gc.145C>GSubstitution - Missense
ZNF585AENSG00000196967ENST00000356958p.E131Gc.392A>GSubstitution - Missense
PCDHGC3ENSG00000240184ENST00000308177p.N689fs*36c.2058_2059insAInsertion - Frameshift
GNPDA1ENSG00000113552ENST00000311337p.M194Ic.582G>ASubstitution - Missense
SPRED3ENSG00000188766ENST00000338502p.V75Mc.223G>ASubstitution - Missense
PLCL2ENSG00000154822ENST00000396755p.K202Nc.606G>TSubstitution - Missense
NRG2ENSG00000158458ENST00000361474p.G324fs*8c.971delGDeletion - Frameshift
PURAENSG00000185129ENST00000331327p.R286Rc.856A>CSubstitution - coding silent
PKD2L2ENSG00000078795ENST00000290431p.P186Hc.557C>ASubstitution - Missense
TRPV1ENSG00000196689ENST00000399756p.N147Nc.441C>TSubstitution - coding silent
UNC45BENSG00000141161ENST00000394570p.?c.1837-1G>TUnknown
ZKSCAN8ENSG00000198315ENST00000330236p.R81Gc.241A>GSubstitution - Missense
DDX39BENSG00000198563ENST00000449757p.L34Lc.100T>CSubstitution - coding silent
EGFRENSG00000146648ENST00000344576p.G544fs*24c.1629delGDeletion - Frameshift
OR2F2ENSG00000221910ENST00000408955p.S72Pc.214T>CSubstitution - Missense
RP1L1ENSG00000183638ENST00000382483p.A645Tc.1933G>ASubstitution - Missense
NFAT5ENSG00000102908ENST00000432919p.R635fs*7c.1903_1904insAInsertion - Frameshift
LRP12ENSG00000147650ENST00000276654p.A693Tc.2077G>ASubstitution - Missense
ARHGEF6ENSG00000129675ENST00000250617p.?c.166-6C>AUnknown
LTBP4ENSG00000090006ENST00000308370p.A1408fs*3c.4214_4215insCInsertion - Frameshift
LTBP4ENSG00000090006ENST00000308370p.A1445Vc.4334C>TSubstitution - Missense
SAMD4BENSG00000179134ENST00000314471p.G614Gc.1842C>TSubstitution - coding silent
DGKBENSG00000136267ENST00000403951p.A519Vc.1556C>TSubstitution - Missense
PGBD1ENSG00000137338ENST00000259883p.P473Hc.1418C>ASubstitution - Missense
PGBD1ENSG00000137338ENST00000259883p.A638Tc.1912G>ASubstitution - Missense
TNFENSG00000232810ENST00000449264p.?c.232+3A>GUnknown
SCN2AENSG00000136531ENST00000375427p.G1664Gc.4992C>ASubstitution - coding silent
PAK4ENSG00000130669ENST00000358301p.?c.204+8G>AUnknown
WDSUB1ENSG00000196151ENST00000359774p.P99Lc.296C>TSubstitution - Missense
HDAC9ENSG00000048052ENST00000417496p.P418Pc.1254T>CSubstitution - coding silent
RBMS1ENSG00000153250ENST00000348849p.?c.310+10C>TUnknown
CYP4F22ENSG00000171954ENST00000269703p.?c.1007-10C>TUnknown
ZNF404ENSG00000176222ENST00000587539p.H395Rc.1184A>GSubstitution - Missense
TPOENSG00000115705ENST00000345913p.L600Lc.1800G>ASubstitution - coding silent
LY75ENSG00000054219ENST00000263636p.E519Gc.1556A>GSubstitution - Missense
SKIV2L2ENSG00000039123ENST00000230640p.S91Ic.272G>TSubstitution - Missense
DOCK2ENSG00000134516ENST00000256935p.D287Nc.859G>ASubstitution - Missense
F8ENSG00000185010ENST00000360256p.T2260Ac.6778A>GSubstitution - Missense
PRDX4ENSG00000123131ENST00000379341p.G132fs*5c.389_390insTInsertion - Frameshift
ARID1BENSG00000049618ENST00000275248p.S665fs*27c.1988_1989insGInsertion - Frameshift
IGF2RENSG00000197081ENST00000356956p.P1624Sc.4870C>TSubstitution - Missense
CHN2ENSG00000106069ENST00000222792p.T281Ac.841A>GSubstitution - Missense
CHN2ENSG00000106069ENST00000539406p.T356Ac.1066A>GSubstitution - Missense
ENST00000396788p.P1154fs*80c.3461delCDeletion - Frameshift
SLC10A3ENSG00000126903ENST00000263512p.T315Tc.945G>ASubstitution - coding silent
USP40ENSG00000085982ENST00000450966p.A859fs*5c.2568_2569insTInsertion - Frameshift
DMDENSG00000198947ENST00000378707p.L245Fc.733C>TSubstitution - Missense
ELNENSG00000049540ENST00000252034p.A458Vc.1373C>TSubstitution - Missense
PPP1R35ENSG00000160813ENST00000292330p.V37Lc.109G>TSubstitution - Missense
PELI1ENSG00000197329ENST00000358912p.A377Tc.1129G>ASubstitution - Missense
PELI1ENSG00000197329ENST00000358912p.N163fs*21c.488delADeletion - Frameshift
ATXN10ENSG00000130638ENST00000252934p.?c.728+5delcUnknown
MGLLENSG00000074416ENST00000398104p.C32Yc.95G>ASubstitution - Missense
KIAA1841ENSG00000162929ENST00000402291p.K444Tc.1331A>CSubstitution - Missense
PRRT2ENSG00000167371ENST00000358758p.R217fs*8c.649_650insCInsertion - Frameshift
TBC1D10BENSG00000169221ENST00000409939p.G190*c.568G>TSubstitution - Nonsense
SH2B1ENSG00000178188ENST00000322610p.R475fs*5c.1423_1424insCInsertion - Frameshift
HIF3AENSG00000124440ENST00000377670p.A484Vc.1451C>TSubstitution - Missense
RASIP1ENSG00000105538ENST00000222145p.?c.2371+6G>TUnknown
GIGYF1ENSG00000146830ENST00000275732p.G283Gc.849C>TSubstitution - coding silent
GTF2IRD1ENSG00000006704ENST00000265755p.A364Vc.1091C>TSubstitution - Missense
ABCA2ENSG00000107331ENST00000341511p.?c.7068+6C>TUnknown
FZD9ENSG00000188763ENST00000344575p.G218Dc.653G>ASubstitution - Missense
USP42ENSG00000106346ENST00000306177p.V1140Ic.3418G>ASubstitution - Missense
IGBP1ENSG00000089289ENST00000342206p.E291Dc.873G>TSubstitution - Missense
OPHN1ENSG00000079482ENST00000355520p.W359*c.1076G>ASubstitution - Nonsense
USP51ENSG00000247746ENST00000500968p.L61Lc.181T>CSubstitution - coding silent
ATP8B3ENSG00000130270ENST00000525591p.H363Hc.1089C>TSubstitution - coding silent
LCTENSG00000115850ENST00000264162p.A1543Dc.4628C>ASubstitution - Missense
GTPBP8ENSG00000163607ENST00000383678p.D103Ec.309C>GSubstitution - Missense
THSD7BENSG00000144229ENST00000413152p.T452Mc.1355C>TSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.I1270Nc.3809T>ASubstitution - Missense
CTDP1ENSG00000060069ENST00000299543p.P809Lc.2426C>TSubstitution - Missense
KLHL4ENSG00000102271ENST00000373119p.N570Nc.1710C>TSubstitution - coding silent
ITPR1ENSG00000150995ENST00000302640p.R1982Cc.5944C>TSubstitution - Missense
SLC26A6ENSG00000225697ENST00000395550p.Y525Hc.1573T>CSubstitution - Missense
ZNF662ENSG00000182983ENST00000440367p.E385fs*19c.1150delGDeletion - Frameshift
BRD1ENSG00000100425ENST00000216267p.?c.2838+10G>AUnknown
MAPK12ENSG00000188130ENST00000215659p.A178Tc.532G>ASubstitution - Missense
RAD17ENSG00000152942ENST00000361732p.G390Gc.1170G>ASubstitution - coding silent
MAP1BENSG00000131711ENST00000296755p.V2217Ec.6650T>ASubstitution - Missense
MAPK11ENSG00000185386ENST00000330651p.E317Ec.951G>ASubstitution - coding silent
ACRCENSG00000147174ENST00000373695p.C557Yc.1670G>ASubstitution - Missense
XM_291321.3p.P639fs*44c.1907_1908insAInsertion - Frameshift
ATRXENSG00000085224ENST00000373344p.E328Ec.984A>GSubstitution - coding silent
MRPS36ENSG00000134056ENST00000256441p.M6Vc.16A>GSubstitution - Missense
MAGEE1ENSG00000198934ENST00000361470p.V873Mc.2617G>ASubstitution - Missense
BAI3ENSG00000135298ENST00000370598p.?c.4239+2T>CUnknown
ENST00000441191p.P145Sc.433C>TSubstitution - Missense
TFAP2AENSG00000137203ENST00000319516p.L4Lc.12T>CSubstitution - coding silent
VCANENSG00000038427ENST00000265077p.T416Ac.1246A>GSubstitution - Missense
SPATA9ENSG00000145757ENST00000274432p.K209Nc.627A>TSubstitution - Missense
NM_021998.2p.A274Vc.821C>TSubstitution - Missense
L3MBTL4ENSG00000154655ENST00000400105p.P346Pc.1038T>CSubstitution - coding silent
CD226ENSG00000150637ENST00000280200p.R330Hc.989G>ASubstitution - Missense
ASCC3ENSG00000112249ENST00000369162p.W1392Lc.4175G>TSubstitution - Missense
ADCYAP1ENSG00000141433ENST00000450565p.G115Ec.344G>ASubstitution - Missense
TOPAZ1ENSG00000173769ENST00000309765p.G1309Gc.3927C>TSubstitution - coding silent
SERINC5ENSG00000164300ENST00000512721p.H65Hc.195C>TSubstitution - coding silent
PRMT10ENSG00000164169ENST00000322396p.T348Ic.1043C>TSubstitution - Missense
AKAP2ENSG00000241978ENST00000374525p.G222Gc.666C>TSubstitution - coding silent
ABI3BPENSG00000154175ENST00000471714p.V256Mc.766G>ASubstitution - Missense
NM_003319p.P23621Sc.70861C>TSubstitution - Missense
STK25ENSG00000115694ENST00000316586p.E282Kc.844G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.R9634Gc.28900A>GSubstitution - Missense
WIPF1ENSG00000115935ENST00000392546p.P430fs*>74c.1289delCDeletion - Frameshift
ENST00000356127p.P16407Pc.49221A>CSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.S15510Sc.46530G>ASubstitution - coding silent
DFNB59ENSG00000204311ENST00000375129p.C43Yc.128G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.K7402Nc.22206G>TSubstitution - Missense
SPATA33ENSG00000167523ENST00000301031p.V83Ac.248T>CSubstitution - Missense
ATP2B2ENSG00000157087ENST00000383800p.?c.1282-4C>TUnknown
MYH2ENSG00000125414ENST00000245503p.V805Ac.2414T>CSubstitution - Missense
VPS35ENSG00000069329ENST00000299138p.G174Dc.521G>ASubstitution - Missense
ANKRD11ENSG00000167522ENST00000301030p.K393Rc.1178A>GSubstitution - Missense
MORC1ENSG00000114487ENST00000232603p.R89fs*16c.258_259insAInsertion - Frameshift
ZNF610ENSG00000167554ENST00000327920p.M75Ic.225G>ASubstitution - Missense
SENP7ENSG00000138468ENST00000394085p.F4fs*19c.9_10insAInsertion - Frameshift
MTTPENSG00000138823ENST00000265517p.A273Tc.817G>ASubstitution - Missense
ALKENSG00000171094ENST00000389048p.P1218Sc.3652C>TSubstitution - Missense
EPHA6ENSG00000080224ENST00000389672p.P933Sc.2797C>TSubstitution - Missense
ARHGEF38ENSG00000236699ENST00000265154p.I197Tc.590T>CSubstitution - Missense
HELZ2ENSG00000130589ENST00000467148p.A1070Ac.3210T>CSubstitution - coding silent
DEPDC5ENSG00000100150ENST00000535622p.L97Ic.289C>ASubstitution - Missense
MID1IP1ENSG00000165175ENST00000457894p.N16Nc.48C>TSubstitution - coding silent
OTCENSG00000036473ENST00000039007p.G71Rc.211G>ASubstitution - Missense
GPR82ENSG00000171657ENST00000302548p.W38Cc.114G>TSubstitution - Missense
ACOX3ENSG00000087008ENST00000356406p.*701Wc.2102A>GNonstop extension
CXorf27ENSG00000187516ENST00000341016p.F31Sc.92T>CSubstitution - Missense
CENPEENSG00000138778ENST00000265148p.N61fs*4c.177_178insAInsertion - Frameshift
ENST00000405167p.T2276Tc.6828C>TSubstitution - coding silent
BDH1ENSG00000161267ENST00000392378p.R223Hc.668G>ASubstitution - Missense
APCENSG00000134982ENST00000457016p.A528Vc.1583C>TSubstitution - Missense
PDLIM5ENSG00000163110ENST00000317968p.?c.1109-4C>AUnknown
BCL6BENSG00000161940ENST00000293805p.K354Kc.1062G>ASubstitution - coding silent
SMC1AENSG00000072501ENST00000322213p.K227Tc.680A>CSubstitution - Missense
SSX7ENSG00000187754ENST00000298181p.K60Nc.180A>TSubstitution - Missense
ENST00000293813p.I642Ic.1926T>CSubstitution - coding silent
ZNF182ENSG00000147118ENST00000396965p.T416Ac.1246A>GSubstitution - Missense
ZNF211ENSG00000121417ENST00000544273p.E469fs*44c.1402delGDeletion - Frameshift
ZNF81ENSG00000197779ENST00000376954p.A422fs*36c.1258delGDeletion - Frameshift
ZNF135ENSG00000176293ENST00000401053p.V33Ec.98T>ASubstitution - Missense
CDK16ENSG00000102225ENST00000276052p.K255Rc.764A>GSubstitution - Missense
ZNF319ENSG00000166188ENST00000299237p.R459Hc.1376G>ASubstitution - Missense
DLEC1ENSG00000008226ENST00000346219p.P541Sc.1621C>TSubstitution - Missense
IGSF10ENSG00000152580ENST00000282466p.R2095Sc.6285A>TSubstitution - Missense
IGSF10ENSG00000152580ENST00000282466p.A823Tc.2467G>ASubstitution - Missense
PHACTR2ENSG00000112419ENST00000440869p.N207fs*7c.620_621insAInsertion - Frameshift
SYNE1ENSG00000131018ENST00000265368p.A2131Vc.6392C>TSubstitution - Missense
SYNJ2ENSG00000078269ENST00000355585p.P1162Pc.3486T>CSubstitution - coding silent
GMPRENSG00000137198ENST00000259727p.A322Tc.964G>ASubstitution - Missense
STXBP5ENSG00000164506ENST00000321680p.R741Rc.2223A>GSubstitution - coding silent
SYNPO2ENSG00000172403ENST00000434046p.G427Cc.1279G>TSubstitution - Missense
RNF182ENSG00000180537ENST00000537663p.V61Ic.181G>ASubstitution - Missense
CD83ENSG00000112149ENST00000379153p.W39fs*19c.114_115insCInsertion - Frameshift
TRIM59ENSG00000213186ENST00000309784p.H380Rc.1139A>GSubstitution - Missense
FAT4ENSG00000196159ENST00000394329p.L1378fs*4c.4131_4132insAInsertion - Frameshift
TRAM1L1ENSG00000174599ENST00000310754p.R345fs*14c.1033delADeletion - Frameshift
NDST3ENSG00000164100ENST00000296499p.K295Ec.883A>GSubstitution - Missense
NDST4ENSG00000138653ENST00000264363p.P627Pc.1881A>GSubstitution - coding silent
CNOT1ENSG00000125107ENST00000441024p.F1501fs*14c.4499_4500insTInsertion - Frameshift
FLNAENSG00000196924ENST00000369850p.D1709Nc.5125G>ASubstitution - Missense
FLNAENSG00000196924ENST00000369850p.D1709Nc.5125G>ASubstitution - Missense
DTX2ENSG00000091073ENST00000324432p.T160Tc.480G>ASubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.F4255fs*24c.12757_12758insAInsertion - Frameshift
AQP3ENSG00000165272ENST00000297991p.H53Hc.159C>TSubstitution - coding silent
ZNFX1ENSG00000124201ENST00000396105p.C1341Yc.4022G>ASubstitution - Missense
ERGIC3ENSG00000125991ENST00000357394p.I72Ic.216C>TSubstitution - coding silent
ZNF831ENSG00000124203ENST00000371030p.P126Pc.378G>ASubstitution - coding silent
PARD6BENSG00000124171ENST00000371610p.D100Nc.298G>ASubstitution - Missense
ENST00000358035p.G98Dc.293G>ASubstitution - Missense
ZNF536ENSG00000198597ENST00000355537p.R1269Mc.3806G>TSubstitution - Missense
RUNX1T1ENSG00000079102ENST00000436581p.?c.774-6C>AUnknown
NEK4ENSG00000114904ENST00000233027p.V252Mc.754G>ASubstitution - Missense
NUGGCENSG00000189233ENST00000413272p.K453Nc.1359G>TSubstitution - Missense
CEP41ENSG00000106477ENST00000223208p.D55fs*2c.156_157insAInsertion - Frameshift
ANKRD18AENSG00000180071ENST00000399703p.Q625Rc.1874A>GSubstitution - Missense
LEPENSG00000174697ENST00000308868p.G133fs*15c.393delGDeletion - Frameshift
CNTROBENSG00000170037ENST00000380262p.?c.1164+3delaUnknown
BPTFENSG00000171634ENST00000306378p.E328Vc.983A>TSubstitution - Missense
BCAS3ENSG00000141376ENST00000390652p.V393Ic.1177G>ASubstitution - Missense
GIT1ENSG00000108262ENST00000394869p.R229Wc.685C>TSubstitution - Missense
ENST00000375206p.K272fs*28c.812delADeletion - Frameshift
KIAA0753ENSG00000198920ENST00000361413p.A567Vc.1700C>TSubstitution - Missense
PTDSS1ENSG00000156471ENST00000517309p.?c.600+8G>TUnknown
KRTAP10-7ENSG00000205441ENST00000380102p.A288fs*>88c.859delGDeletion - Frameshift
KDM3AENSG00000115548ENST00000409556p.L520Hc.1559T>ASubstitution - Missense
SMARCA4ENSG00000127616ENST00000358026p.G1232Dc.3695G>ASubstitution - Missense
SECTM1ENSG00000141574ENST00000269389p.Y115Fc.344A>TSubstitution - Missense
ZNF44ENSG00000197857ENST00000355684p.Y490*c.1470C>ASubstitution - Nonsense
LAMA3ENSG00000053747ENST00000269217p.E875Dc.2625G>TSubstitution - Missense
DSC2ENSG00000134755ENST00000280904p.T713Tc.2139G>ASubstitution - coding silent
TAF4BENSG00000141384ENST00000400466p.C616Yc.1847G>ASubstitution - Missense
NM_003895.2p.Q1277fs*30c.3829delCDeletion - Frameshift
RARAENSG00000131759ENST00000254066p.N138Tc.413A>CSubstitution - Missense
RARAENSG00000131759ENST00000394081p.N133Tc.398A>CSubstitution - Missense
NM_032217.3p.P914Hc.2741C>ASubstitution - Missense
SEPT12ENSG00000140623ENST00000268231p.D127Vc.380A>TSubstitution - Missense
TBC1D14ENSG00000132405ENST00000409757p.V124Mc.370G>ASubstitution - Missense
AFAP1ENSG00000196526ENST00000360265p.R476Cc.1426C>TSubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.P1512Lc.4535C>TSubstitution - Missense
GCENSG00000145321ENST00000273951p.C384Cc.1152T>CSubstitution - coding silent
NLRC5ENSG00000140853ENST00000262510p.K1549fs*4c.4641delGDeletion - Frameshift
LCA5LENSG00000157578ENST00000380671p.R53Kc.158G>ASubstitution - Missense
RIPK4ENSG00000183421ENST00000352483p.Y37Yc.111C>TSubstitution - coding silent
SLC17A2ENSG00000112337ENST00000360488p.M121fs*21c.353_354insAInsertion - Frameshift
ENST00000378381p.L344Sc.1031T>CSubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.P2355Pc.7065G>ASubstitution - coding silent
DGKIENSG00000157680ENST00000288490p.V249Ic.745G>ASubstitution - Missense
CBR3ENSG00000159231ENST00000290354p.I105Nc.314T>ASubstitution - Missense
CASC3ENSG00000108349ENST00000264645p.T304Tc.912C>TSubstitution - coding silent
STX18ENSG00000168818ENST00000306200p.?c.831+5A>GUnknown
TIAM1ENSG00000156299ENST00000286827p.T679Ic.2036C>TSubstitution - Missense
ENST00000360660p.E1285Kc.3853G>ASubstitution - Missense
COL1A2ENSG00000164692ENST00000297268p.P783fs*3c.2343delCDeletion - Frameshift
NPTX2ENSG00000106236ENST00000265634p.R362fs*1c.1076_1077insGInsertion - Frameshift
CALD1ENSG00000122786ENST00000393118p.P459Pc.1377T>CSubstitution - coding silent
NM_003319p.N7601fs*11c.22802_22803insAInsertion - Frameshift
TLK1ENSG00000198586ENST00000431350p.H175Qc.525T>ASubstitution - Missense
ENST00000278882_v61p.L172fs*3c.515_516insTInsertion - Frameshift
DIP2AENSG00000160305ENST00000427143p.A336Tc.1006G>ASubstitution - Missense
BRSK1ENSG00000160469ENST00000309383p.R138Cc.412C>TSubstitution - Missense
UBE2WENSG00000104343ENST00000419880p.S40Sc.120T>CSubstitution - coding silent
CTAGE1ENSG00000212710ENST00000391403p.S80Lc.239C>TSubstitution - Missense
ENSG00000173213ENST00000308911p.?c.167-4G>AUnknown
LOXHD1ENSG00000167210ENST00000398722p.N1835Dc.5503A>GSubstitution - Missense
CTIFENSG00000134030ENST00000256413p.P305Pc.915G>ASubstitution - coding silent
MC5RENSG00000176136ENST00000324750p.M197Lc.589A>TSubstitution - Missense
WDR7ENSG00000091157ENST00000254442p.R772Gc.2314A>GSubstitution - Missense
ADARENSG00000160710ENST00000368474p.T954fs*20c.2852_2853insAInsertion - Frameshift
CRNNENSG00000143536ENST00000271835p.C97Cc.291C>TSubstitution - coding silent
SLC39A1ENSG00000143570ENST00000368621p.G150*c.448G>TSubstitution - Nonsense
GCOM1ENSG00000137878ENST00000380569p.?c.804+1_804+2delgtUnknown
WDR72ENSG00000166415ENST00000396328p.M778fs*4c.2325_2326insAInsertion - Frameshift
CCDC83ENSG00000150676ENST00000280245p.L280Lc.840G>ASubstitution - coding silent
TPM1ENSG00000140416ENST00000267996p.K7delKc.13_15delAAGDeletion - In frame
SNX22ENSG00000157734ENST00000325881p.?c.359+5G>AUnknown
CATSPERBENSG00000133962ENST00000256343p.Y298Cc.893A>GSubstitution - Missense
TTC39AENSG00000085831ENST00000371750p.?c.150-7T>CUnknown
CDCP2ENSG00000157211ENST00000371330p.?c.80-7G>AUnknown
KIAA0586ENSG00000100578ENST00000354386p.?c.2044-10G>AUnknown
SYNE2ENSG00000054654ENST00000358025p.L433Pc.1298T>CSubstitution - Missense
FANCMENSG00000187790ENST00000267430p.A805Tc.2413G>ASubstitution - Missense
SU_LRRK1p.K1129Rc.3386A>GSubstitution - Missense
PRPF39ENSG00000185246ENST00000355765p.L502Fc.1504C>TSubstitution - Missense
ENST00000355846p.L381Fc.1141C>TSubstitution - Missense
LURAP1ENSG00000171357ENST00000371980p.R124*c.370C>TSubstitution - Nonsense
RYR3ENSG00000198838ENST00000389232p.I504Nc.1511T>ASubstitution - Missense
KIAA1107ENSG00000069712ENST00000409154p.?c.156+3A>GUnknown
ACTC1ENSG00000159251ENST00000290378p.D83Nc.247G>ASubstitution - Missense
NADK2ENSG00000152620ENST00000381937p.V411Ac.1232T>CSubstitution - Missense
SLC12A6ENSG00000140199ENST00000290209p.L257Hc.770T>ASubstitution - Missense
WDR59ENSG00000103091ENST00000262144p.T451fs*7c.1350delCDeletion - Frameshift
SLC12A6ENSG00000140199ENST00000290209p.G48Rc.142G>ASubstitution - Missense
NM_006293p.D752Dc.2256C>TSubstitution - coding silent
FYBENSG00000082074ENST00000505428p.P325fs*43c.965_966insGInsertion - Frameshift
KTN1ENSG00000126777ENST00000416613p.S243Nc.728G>ASubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.L206Sc.617T>CSubstitution - Missense
PLEKHG5ENSG00000171680ENST00000377748p.A111Tc.331G>ASubstitution - Missense
OR2T1ENSG00000175143ENST00000366474p.I41Vc.121A>GSubstitution - Missense
DEPDC1ENSG00000024526ENST00000370966p.R338Cc.1012C>TSubstitution - Missense
NEGR1ENSG00000172260ENST00000357731p.F292Fc.876C>TSubstitution - coding silent
CLSTN1ENSG00000171603ENST00000377298p.G376Gc.1128C>TSubstitution - coding silent
SACSENSG00000151835ENST00000382298p.A2867Ac.8601C>TSubstitution - coding silent
DZANK1ENSG00000089091ENST00000262547p.C306Yc.917G>ASubstitution - Missense
CHTF18ENSG00000127586ENST00000317063p.R993Cc.2977C>TSubstitution - Missense
SPOPENSG00000121067ENST00000393328p.A61Sc.181G>TSubstitution - Missense
HOXB9ENSG00000170689ENST00000311177p.R169fs*46c.505_506delAGDeletion - Frameshift
XYLT2ENSG00000015532ENST00000017003p.R660Wc.1978C>TSubstitution - Missense
ZNF121ENSG00000197961ENST00000320451p.L115Lc.345C>TSubstitution - coding silent
MACROD2ENSG00000172264ENST00000378058p.A150fs*19c.443delADeletion - Frameshift
MUC16ENSG00000181143ENST00000397910p.P207fs*4c.620delCDeletion - Frameshift
POLRMTENSG00000099821ENST00000588649p.G1090Gc.3270C>TSubstitution - coding silent
TFDP3ENSG00000183434ENST00000310125p.N69Dc.205A>GSubstitution - Missense
INSRENSG00000171105ENST00000302850p.?c.1484-2A>GUnknown
CHD7ENSG00000171316ENST00000423902p.?c.5534+1G>AUnknown
ALG13ENSG00000101901ENST00000394780p.T952Sc.2854A>TSubstitution - Missense
SDR16C5ENSG00000170786ENST00000303749p.I254fs*25c.754_755insAInsertion - Frameshift
CCNYL1ENSG00000163249ENST00000339882p.E272Kc.814G>ASubstitution - Missense
RPA1ENSG00000132383ENST00000254719p.A128Vc.383C>TSubstitution - Missense
FLIIENSG00000177731ENST00000327031p.N125Nc.375C>TSubstitution - coding silent
THOC2ENSG00000125676ENST00000245838p.A665Tc.1993G>ASubstitution - Missense
UNKENSG00000132478ENST00000293218p.H146Yc.436C>TSubstitution - Missense
NM_003685.1p.G410Gc.1230C>GSubstitution - coding silent
FBN3ENSG00000142449ENST00000270509p.C2041Cc.6123C>TSubstitution - coding silent
CAMSAP3ENSG00000076826ENST00000446248p.L536Lc.1608G>ASubstitution - coding silent
SOGA1ENSG00000149639ENST00000279034p.A910Vc.2729C>TSubstitution - Missense
IRF3ENSG00000126456ENST00000309877p.?c.983-3delcUnknown
ZNF99ENSG00000213973ENST00000397104p.K935Rc.2804A>GSubstitution - Missense
TSHZ3ENSG00000121297ENST00000240587p.L203Pc.608T>CSubstitution - Missense
JSRP1ENSG00000167476ENST00000300961p.R262Wc.784C>TSubstitution - Missense
SHMT1ENSG00000176974ENST00000316694p.A212Tc.634G>ASubstitution - Missense
SEC14L1ENSG00000129657ENST00000436233p.H279Yc.835C>TSubstitution - Missense
CEP170ENSG00000143702ENST00000366542p.H55Yc.163C>TSubstitution - Missense
TTC9CENSG00000162222ENST00000513247p.G119fs*43c.351delGDeletion - Frameshift
FGD6ENSG00000180263ENST00000343958p.S707Sc.2121T>CSubstitution - coding silent
RYR2ENSG00000198626ENST00000366574p.S1770Nc.5309G>ASubstitution - Missense
NM_018979p.P1731Pc.5193T>CSubstitution - coding silent
PHRF1ENSG00000070047ENST00000416188p.P1507Lc.4520C>TSubstitution - Missense
ANO1ENSG00000131620ENST00000355303p.E168*c.502G>TSubstitution - Nonsense
INTS5ENSG00000185085ENST00000330574p.A813Pc.2437G>CSubstitution - Missense
CCDC41ENSG00000173588ENST00000339839p.P639Hc.1916C>ASubstitution - Missense
STX5ENSG00000162236ENST00000294179p.?c.786+9G>TUnknown
ITGBL1ENSG00000198542ENST00000376180p.A438Dc.1313C>ASubstitution - Missense
FAM160A2ENSG00000051009ENST00000265978p.?c.2436+7G>AUnknown
SUPT16HENSG00000092201ENST00000216297p.E446Ec.1338G>ASubstitution - coding silent
PHRF1ENSG00000070047ENST00000416188p.?c.894+1G>AUnknown
CCDC181ENSG00000117477ENST00000367805p.K213Nc.639G>TSubstitution - Missense
SH3PXD2AENSG00000107957ENST00000355946p.P1016Lc.3047C>TSubstitution - Missense
ENST00000390229p.G30Dc.89G>ASubstitution - Missense
HTRA1ENSG00000166033ENST00000368984p.A281Ac.843C>TSubstitution - coding silent
NUDT5ENSG00000165609ENST00000491614p.E115Dc.345A>CSubstitution - Missense
FAN1ENSG00000198690ENST00000561594p.S180Nc.539G>ASubstitution - Missense
LY9ENSG00000122224ENST00000368041p.C467Cc.1401C>TSubstitution - coding silent
ADAMTS4ENSG00000158859ENST00000367996p.R637Wc.1909C>TSubstitution - Missense
N4BP2L2ENSG00000244754ENST00000267068p.Y33Cc.98A>GSubstitution - Missense
CENPLENSG00000120334ENST00000367710p.S33Sc.99G>ASubstitution - coding silent
VPS13DENSG00000048707ENST00000358136p.Y2996Cc.8987A>GSubstitution - Missense
NOTCH2ENSG00000134250ENST00000256646p.R1875Wc.5623C>TSubstitution - Missense
ENST00000398860p.S2436Sc.7308A>GSubstitution - coding silent
RLFENSG00000117000ENST00000372771p.W322fs*12c.959delTDeletion - Frameshift
SU_CRIKp.R1105Qc.3314G>ASubstitution - Missense
MACF1ENSG00000127603ENST00000361689p.?c.6753-4A>TUnknown
SU_CRIKp.Q879Qc.2637G>ASubstitution - coding silent
MACF1ENSG00000127603ENST00000361689p.L537Sc.1610T>CSubstitution - Missense
KSR2ENSG00000171435ENST00000302438p.S325Sc.975A>GSubstitution - coding silent
SU_KSR2p.Q123fs*24c.367delCDeletion - Frameshift
KMT2AENSG00000118058ENST00000534358p.T488Tc.1464A>GSubstitution - coding silent
EIF4G2ENSG00000110321ENST00000339995p.D765Ec.2295T>ASubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.V2166Mc.6496G>ASubstitution - Missense
VASH1ENSG00000071246ENST00000554237p.Y178Yc.534T>CSubstitution - coding silent
ENST00000417177p.P1882Hc.5645C>ASubstitution - Missense
ENST00000426033p.E2470Ec.7410G>ASubstitution - coding silent
PTPRCENSG00000081237ENST00000442510p.L1263Lc.3789T>CSubstitution - coding silent
SLC39A12ENSG00000148482ENST00000377374p.Q105Rc.314A>GSubstitution - Missense
C10orf67ENSG00000179133ENST00000376500p.Y290fs*>7c.866_867insAInsertion - Frameshift
GUCY1A2ENSG00000152402ENST00000526355p.P705Sc.2113C>TSubstitution - Missense
SMG1ENSG00000157106ENST00000446231p.N1276Nc.3828C>TSubstitution - coding silent
EXPH5ENSG00000110723ENST00000265843p.F1264fs*3c.3789_3790insAInsertion - Frameshift
CUL5ENSG00000166266ENST00000393094p.V526Ic.1576G>ASubstitution - Missense
DSCAML1ENSG00000177103ENST00000321322p.R318Hc.953G>ASubstitution - Missense
SWT1ENSG00000116668ENST00000367501p.E165Kc.493G>ASubstitution - Missense
ABL2ENSG00000143322ENST00000512653p.Y203Hc.607T>CSubstitution - Missense
NCAM1ENSG00000149294ENST00000401611p.Q525Hc.1575G>TSubstitution - Missense
SLC16A4ENSG00000168679ENST00000369779p.L295Ic.883C>ASubstitution - Missense
CELSR2ENSG00000143126ENST00000271332p.E2013Ec.6039G>ASubstitution - coding silent
ZFYVE26ENSG00000072121ENST00000347230p.L1465Pc.4394T>CSubstitution - Missense
DLG2ENSG00000150672ENST00000376104p.G548Cc.1642G>TSubstitution - Missense
RFX7ENSG00000181827ENST00000317318p.R996Sc.2986C>ASubstitution - Missense
KLHDC8AENSG00000162873ENST00000367155p.R110Mc.329G>TSubstitution - Missense
FZD10ENSG00000111432ENST00000229030p.Y77Cc.230A>GSubstitution - Missense
ENST00000298047_v61p.S939Nc.2816G>ASubstitution - Missense
SFSWAPENSG00000061936ENST00000261674p.P385fs*20c.1151_1152insCInsertion - Frameshift
FAT3ENSG00000165323ENST00000409404p.A1975Sc.5923G>TSubstitution - Missense
NUP107ENSG00000111581ENST00000229179p.L212Ic.634C>ASubstitution - Missense
CHD4ENSG00000111642ENST00000309577p.V1700Mc.5098G>ASubstitution - Missense
IQSEC3ENSG00000120645ENST00000538872p.V744Mc.2230G>ASubstitution - Missense
YPEL1ENSG00000100027ENST00000339468p.A12Ac.36G>ASubstitution - coding silent
PLAG1ENSG00000181690ENST00000316981p.P335Pc.1005G>ASubstitution - coding silent
NUF2ENSG00000143228ENST00000367900p.A411Sc.1231G>TSubstitution - Missense
FBN3ENSG00000142449ENST00000270509p.H1320Hc.3960C>TSubstitution - coding silent
PLEKHA5ENSG00000052126ENST00000429027p.V152fs*33c.447delADeletion - Frameshift
COL13A1ENSG00000197467ENST00000398969p.K524Kc.1572A>GSubstitution - coding silent
MAST4ENSG00000069020ENST00000403625p.R1045*c.3133C>TSubstitution - Nonsense
PALM2-AKAP2ENSG00000157654ENST00000374530p.Q889fs*33c.2659delCDeletion - Frameshift
BIRC6ENSG00000115760ENST00000421745p.S2886Sc.8658C>TSubstitution - coding silent
XYLT2ENSG00000015532ENST00000017003p.G529fs*78c.1578delCDeletion - Frameshift
SCN2AENSG00000136531ENST00000375437p.R1638Cc.4912C>TSubstitution - Missense
GLYR1ENSG00000140632ENST00000321919p.R381fs*20c.1140delGDeletion - Frameshift
OR1L3ENSG00000171481ENST00000304820p.F151Lc.453C>ASubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.G2124Dc.6371G>ASubstitution - Missense
GCC1ENSG00000179562ENST00000321407p.R397Hc.1190G>ASubstitution - Missense
XM_374396.2p.E1253Kc.3757G>ASubstitution - Missense
ATP2B3ENSG00000067842ENST00000359149p.A534Tc.1600G>ASubstitution - Missense
THSD1ENSG00000136114ENST00000258613p.S789Yc.2366C>ASubstitution - Missense
MYCBP2ENSG00000005810ENST00000357337p.E3175fs*6c.9522_9523insAInsertion - Frameshift
UTP14CENSG00000253797ENST00000521776p.A491Vc.1472C>TSubstitution - Missense
NM_015057.1p.L2124Lc.6372A>GSubstitution - coding silent
PTCH1ENSG00000185920ENST00000375274p.N96fs*43c.287_288insAInsertion - Frameshift
RCOR3ENSG00000117625ENST00000367005p.T90Ic.269C>TSubstitution - Missense
DIEXFENSG00000117597ENST00000491415p.N420Dc.1258A>GSubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.E217fs*1c.648_649insTInsertion - Frameshift
NM_020247p.L142Rc.425T>GSubstitution - Missense
PARD3ENSG00000148498ENST00000374789p.I676Nc.2027T>ASubstitution - Missense
EPRSENSG00000136628ENST00000366923p.D1289Dc.3867C>TSubstitution - coding silent
SASS6ENSG00000156876ENST00000287482p.Q190fs*5c.559_560insAInsertion - Frameshift
ATP7BENSG00000123191ENST00000242839p.A638Tc.1912G>ASubstitution - Missense
RCBTB1ENSG00000136144ENST00000378302p.I390fs*18c.1168delADeletion - Frameshift
RCBTB1ENSG00000136144ENST00000378302p.?c.1046-5T>AUnknown
ATAD1ENSG00000138138ENST00000328142p.A339fs*5c.1015delGDeletion - Frameshift
OBSCNENSG00000154358ENST00000570156p.S869Sc.2607C>ASubstitution - coding silent
DLG5ENSG00000151208ENST00000372391p.A1588Tc.4762G>ASubstitution - Missense
ENST00000371829p.Q167Lc.500A>TSubstitution - Missense
SMARCC2ENSG00000139613ENST00000267064p.Q960delQc.2868_2870delACADeletion - In frame
ENST00000300576_v68p.A289Ac.867A>GSubstitution - coding silent
EIF4G3ENSG00000075151ENST00000374937p.Q90fs*43c.268delCDeletion - Frameshift
VASH2ENSG00000143494ENST00000366968p.L230Mc.688C>ASubstitution - Missense
TSC22D1ENSG00000102804ENST00000458659p.N129Dc.385A>GSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.T2544Tc.7632C>TSubstitution - coding silent
OBSCNENSG00000154358ENST00000284548p.T2360Tc.7080C>TSubstitution - coding silent
NUP160ENSG00000030066ENST00000526870p.G32Gc.96C>TSubstitution - coding silent
NUP160ENSG00000030066ENST00000378460p.T1278Ic.3833C>TSubstitution - Missense
PEAR1ENSG00000187800ENST00000338302p.G586fs*99c.1753delGDeletion - Frameshift
MUC5BENSG00000117983ENST00000529681p.S1744Tc.5231G>CSubstitution - Missense
DGKZENSG00000149091ENST00000343674p.D371Dc.1113C>TSubstitution - coding silent
CLMPENSG00000166250ENST00000448775p.D105Dc.315T>CSubstitution - coding silent
CLMPENSG00000166250ENST00000448775p.T19fs*45c.54delGDeletion - Frameshift
C1QTNF4ENSG00000172247ENST00000302514p.R267Rc.801C>TSubstitution - coding silent
KCNJ5ENSG00000120457ENST00000338350p.A318Tc.952G>ASubstitution - Missense
PIK3C2GENSG00000139144ENST00000433979p.D41Ec.123T>ASubstitution - Missense
ANKLE2ENSG00000176915ENST00000357997p.P805Ac.2413C>GSubstitution - Missense
ACTN2ENSG00000077522ENST00000366578p.E848Dc.2544G>TSubstitution - Missense
LYSTENSG00000143669ENST00000389793p.M495Tc.1484T>CSubstitution - Missense
OR5B21ENSG00000198283ENST00000360374p.A244Dc.731C>ASubstitution - Missense
SALL2ENSG00000165821ENST00000327430p.P581Sc.1741C>TSubstitution - Missense
CHST15ENSG00000182022ENST00000346248p.Q424Qc.1272G>ASubstitution - coding silent
CPEB1ENSG00000214575ENST00000398591p.?c.382-6C>TUnknown
KIF7ENSG00000166813ENST00000394412p.R787Cc.2359C>TSubstitution - Missense
OR5P3ENSG00000182334ENST00000328375p.T158Sc.472A>TSubstitution - Missense
ART4ENSG00000111339ENST00000228936p.L170Pc.509T>CSubstitution - Missense
CEP170ENSG00000143702ENST00000366542p.G290Wc.868G>TSubstitution - Missense
WISP1ENSG00000104415ENST00000377863p.Y124Yc.372T>CSubstitution - coding silent
RGS3ENSG00000138835ENST00000343817p.Y801Yc.2403C>TSubstitution - coding silent
NM_144488.2p.Y978Yc.2934C>TSubstitution - coding silent
COL22A1ENSG00000169436ENST00000303045p.?c.4032+3G>AUnknown
PTK2ENSG00000169398ENST00000340930p.?c.1124+6T>CUnknown
TRIM32ENSG00000119401ENST00000450136p.S72Nc.215G>ASubstitution - Missense
UBR3ENSG00000144357ENST00000418381p.A321Tc.961G>ASubstitution - Missense
LAMC3ENSG00000050555ENST00000361069p.G567fs*24c.1698_1699insCInsertion - Frameshift
TRIM22ENSG00000132274ENST00000379965p.C18Yc.53G>ASubstitution - Missense
TNNT3ENSG00000130595ENST00000381579p.A103Tc.307G>ASubstitution - Missense
PDHXENSG00000110435ENST00000448838p.N106Nc.318T>CSubstitution - coding silent
GUCY1A2ENSG00000152402ENST00000282249p.Y751Hc.2251T>CSubstitution - Missense
PTPRUENSG00000060656ENST00000345512p.P600Pc.1800C>ASubstitution - coding silent
PLEKHG5ENSG00000171680ENST00000535355p.A103Tc.307G>ASubstitution - Missense
FCGR2BENSG00000072694ENST00000428605p.H190Hc.570C>TSubstitution - coding silent
ZBTB17ENSG00000116809ENST00000375733p.A125Tc.373G>ASubstitution - Missense
S100A1ENSG00000160678ENST00000292169p.L38Mc.112C>ASubstitution - Missense
EP400ENSG00000183495ENST00000333577p.?c.7135-6C>AUnknown
ZDHHC5ENSG00000156599ENST00000287169p.R147Rc.441T>CSubstitution - coding silent
ABCA12ENSG00000144452ENST00000389661p.L1606Lc.4818T>CSubstitution - coding silent
ENST00000256343_v70p.G584Rc.1750G>ASubstitution - Missense
ENST00000256343_v70p.Y298Cc.893A>GSubstitution - Missense
SYNE2ENSG00000054654ENST00000357395p.M2345Vc.7033A>GSubstitution - Missense
RGS6ENSG00000182732ENST00000554782p.L293Pc.878T>CSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.P3207Sc.9619C>TSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.T1357Mc.4070C>TSubstitution - Missense
LAMA5ENSG00000130702ENST00000370692p.C195Gc.583T>GSubstitution - Missense
ELF2ENSG00000109381ENST00000358635p.V334Vc.1002A>GSubstitution - coding silent
ZNF124ENSG00000196418ENST00000543802p.M351fs*>2c.1051_1052insAInsertion - Frameshift
MAP4K4ENSG00000071054ENST00000350878p.W238fs*7c.711_712insAInsertion - Frameshift
SMC2ENSG00000136824ENST00000303219p.N323fs*5c.963_964insAInsertion - Frameshift
ZFP37ENSG00000136866ENST00000553380p.N176fs*24c.527delADeletion - Frameshift
MAST3ENSG00000099308ENST00000262811p.L329fs*19c.985_986insCInsertion - Frameshift
RGS12ENSG00000159788ENST00000338806p.A353Tc.1057G>ASubstitution - Missense
WWC2ENSG00000151718ENST00000448232p.M206fs*9c.609_610insAInsertion - Frameshift
SHC2ENSG00000129946ENST00000264554p.Q518Qc.1554G>ASubstitution - coding silent
EPS15L1ENSG00000127527ENST00000455140p.L491Fc.1473A>TSubstitution - Missense
ENST00000393822_v70p.V114Ic.340G>ASubstitution - Missense
DZANK1ENSG00000089091ENST00000357236p.T92Ic.275C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.Q2786Hc.8358G>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.M2569Vc.7705A>GSubstitution - Missense
NCR3ENSG00000204475ENST00000376072p.E72*c.214G>TSubstitution - Nonsense
COL21A1ENSG00000124749ENST00000535941p.?c.2608+1G>AUnknown
SLC45A2ENSG00000164175ENST00000345083p.S3Nc.8G>ASubstitution - Missense
RNF157ENSG00000141576ENST00000269391p.T483Ac.1447A>GSubstitution - Missense
MYH10ENSG00000133026ENST00000396239p.?c.3715-10C>TUnknown
ZNF407ENSG00000215421ENST00000299687p.G1822Vc.5465G>TSubstitution - Missense
DIAPH2ENSG00000147202ENST00000373049p.S65Tc.193T>ASubstitution - Missense
RALGDSENSG00000160271ENST00000393157p.T661Tc.1983A>GSubstitution - coding silent
EVC2ENSG00000173040ENST00000344938p.C398Rc.1192T>CSubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.L2462Fc.7384C>TSubstitution - Missense
NLGN4XENSG00000146938ENST00000381093p.F532Lc.1594T>CSubstitution - Missense
KDM6AENSG00000147050ENST00000382899p.V1120Ic.3358G>ASubstitution - Missense
WWC3ENSG00000047644ENST00000380861p.S132Tc.394T>ASubstitution - Missense
DOPEY1ENSG00000083097ENST00000237163p.K1871Kc.5613G>ASubstitution - coding silent
RAET1GENSG00000203722ENST00000367360p.L106Rc.317T>GSubstitution - Missense
GPC4ENSG00000076716ENST00000370828p.K345fs*49c.1032delCDeletion - Frameshift
NUP210ENSG00000132182ENST00000254508p.R1173Rc.3519C>TSubstitution - coding silent
PTCH1ENSG00000185920ENST00000331920p.N97fs*43c.290_291insAInsertion - Frameshift
BBS9ENSG00000122507ENST00000354265p.P464Sc.1390C>TSubstitution - Missense
PLECENSG00000178209ENST00000354589p.P4279Pc.12837C>TSubstitution - coding silent
AMPHENSG00000078053ENST00000428293p.A395Tc.1183G>ASubstitution - Missense
ENST00000372796p.A648Vc.1943C>TSubstitution - Missense
CCR1ENSG00000163823ENST00000296140p.R193*c.577C>TSubstitution - Nonsense
FBXO38ENSG00000145868ENST00000340253p.T907Tc.2721A>GSubstitution - coding silent
RABL6ENSG00000196642ENST00000311502p.?c.600+2T>CUnknown
BCKDHBENSG00000083123ENST00000356489p.E239fs*1c.714_715insTInsertion - Frameshift
GJB7ENSG00000164411ENST00000525899p.V140Dc.419T>ASubstitution - Missense
ENST00000369574p.R33Gc.97A>GSubstitution - Missense
L3MBTL3ENSG00000198945ENST00000368136p.L674Lc.2022G>ASubstitution - coding silent
SGK1ENSG00000118515ENST00000413996p.L257Fc.769C>TSubstitution - Missense
WDR87ENSG00000171804ENST00000303868p.R195Kc.584G>ASubstitution - Missense
PCDHGC5ENSG00000240764ENST00000252087p.G300Wc.898G>TSubstitution - Missense
PCDHGA4ENSG00000262576ENST00000571252p.P810Pc.2430G>ASubstitution - coding silent
SIENSG00000090402ENST00000264382p.M1597Ic.4791G>ASubstitution - Missense
DMKNENSG00000161249ENST00000339686p.A410Sc.1228G>TSubstitution - Missense
MAGENSG00000105695ENST00000392213p.L366Lc.1098G>ASubstitution - coding silent
ENST00000316490p.E3078fs*5c.9230_9231insAInsertion - Frameshift
PLXNB3ENSG00000198753ENST00000538966p.S690Nc.2069G>ASubstitution - Missense
FAM13BENSG00000031003ENST00000033079p.E783fs*1c.2346_2347insTInsertion - Frameshift
ENST00000544729p.G232fs*8c.695delGDeletion - Frameshift
WDR55ENSG00000120314ENST00000358337p.D381Gc.1142A>GSubstitution - Missense
APBB3ENSG00000113108ENST00000354402p.L406fs*3c.1209_1210insGInsertion - Frameshift
GPR50ENSG00000102195ENST00000218316p.A26Vc.77C>TSubstitution - Missense
L1CAMENSG00000198910ENST00000370060p.R846Rc.2538C>TSubstitution - coding silent
ENST00000316490_v65p.H3618Yc.10852C>TSubstitution - Missense
NFAT5ENSG00000102908ENST00000432919p.G1547Dc.4640G>ASubstitution - Missense
LRP12ENSG00000147650ENST00000276654p.D145Dc.435C>TSubstitution - coding silent
ENST00000316490_v65p.A2246Vc.6737C>TSubstitution - Missense
SOX7ENSG00000171056ENST00000304501p.L103Lc.309G>ASubstitution - coding silent
FBXL18ENSG00000155034ENST00000382368p.L262Ic.784C>ASubstitution - Missense
TNS3ENSG00000136205ENST00000311160p.A1309Vc.3926C>TSubstitution - Missense
URGCPENSG00000106608ENST00000453200p.G780*c.2338G>TSubstitution - Nonsense
GCKENSG00000106633ENST00000403799p.S441Sc.1323G>ASubstitution - coding silent
SPTBN4ENSG00000160460ENST00000392023p.A618Ac.1854C>ASubstitution - coding silent
SLC26A4ENSG00000091137ENST00000265715p.L660Ic.1978C>ASubstitution - Missense
ATAT1ENSG00000137343ENST00000376483p.?c.261-2A>CUnknown
ZSCAN31ENSG00000235109ENST00000439158p.R287Qc.860G>ASubstitution - Missense
LAMB4ENSG00000091128ENST00000205386p.P643Lc.1928C>TSubstitution - Missense
AHRENSG00000106546ENST00000242057p.P35Hc.104C>ASubstitution - Missense
MAN2B2ENSG00000013288ENST00000285599p.F329fs*40c.984delCDeletion - Frameshift
AASDHENSG00000157426ENST00000205214p.R282*c.844A>TSubstitution - Nonsense
BZW2ENSG00000136261ENST00000258761p.T33Tc.99A>GSubstitution - coding silent
BZW2ENSG00000136261ENST00000258761p.N353Sc.1058A>GSubstitution - Missense
NOA1ENSG00000084092ENST00000264230p.I666Vc.1996A>GSubstitution - Missense
MED15ENSG00000099917ENST00000263205p.H396Yc.1186C>TSubstitution - Missense
UPB1ENSG00000100024ENST00000326010p.L39Lc.117G>ASubstitution - coding silent
SCARF2ENSG00000244486ENST00000266214p.V343Ic.1027G>ASubstitution - Missense
SPANXN3ENSG00000189252ENST00000370503p.Q72*c.214C>TSubstitution - Nonsense
ARHGAP15ENSG00000075884ENST00000295095p.L424Ic.1270C>ASubstitution - Missense
GALNT5ENSG00000136542ENST00000259056p.G56*c.166G>TSubstitution - Nonsense
PLCG1ENSG00000124181ENST00000244007p.T811Tc.2433C>ASubstitution - coding silent
BAZ2BENSG00000123636ENST00000392783p.G126*c.376G>TSubstitution - Nonsense
TANC1ENSG00000115183ENST00000263635p.L252Ic.754C>ASubstitution - Missense
TNXBENSG00000168477ENST00000375244p.P2118Tc.6352C>ASubstitution - Missense
GPR115ENSG00000153294ENST00000371220p.T204Sc.611C>GSubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.R1819Lc.5456G>TSubstitution - Missense
HLA-DPB1ENSG00000223865ENST00000418931p.P192Lc.575C>TSubstitution - Missense
COL11A2ENSG00000204248ENST00000341947p.P1529Pc.4587G>ASubstitution - coding silent
CHP2ENSG00000166869ENST00000300113p.L195Mc.583C>ASubstitution - Missense
PKD1ENSG00000008710ENST00000262304p.?c.9568+9G>AUnknown
ANKLE1ENSG00000160117ENST00000404261p.P296Hc.887C>ASubstitution - Missense
CDK9ENSG00000136807ENST00000373264p.V283Vc.849G>ASubstitution - coding silent
IL31RAENSG00000164509ENST00000447346p.H601Hc.1803T>CSubstitution - coding silent
SH3PXD2BENSG00000174705ENST00000311601p.D89Dc.267C>TSubstitution - coding silent
KIAA0947ENSG00000164151ENST00000296564p.I1980Nc.5939T>ASubstitution - Missense
NM_004520.1p.P673Lc.2018C>TSubstitution - Missense
COL27A1ENSG00000196739ENST00000356083p.G1406Rc.4216G>ASubstitution - Missense
MVPENSG00000013364ENST00000395353p.Q113Hc.339G>TSubstitution - Missense
SRCAPENSG00000080603ENST00000262518p.A748Vc.2243C>TSubstitution - Missense
FAM168BENSG00000152102ENST00000389915p.P58Hc.173C>ASubstitution - Missense
TRERF1ENSG00000124496ENST00000372922p.R973Mc.2918G>TSubstitution - Missense
ENST00000331403p.F6Sc.17T>CSubstitution - Missense
PCOLCEENSG00000106333ENST00000223061p.I184fs*23c.539_540insCInsertion - Frameshift
AGFG2ENSG00000106351ENST00000300176p.P196Pc.588C>TSubstitution - coding silent
C9orf92ENSG00000205549ENST00000380683p.A24Ac.72T>GSubstitution - coding silent
ATRXENSG00000085224ENST00000373344p.P592Hc.1775C>ASubstitution - Missense
WNK3ENSG00000196632ENST00000354646p.?c.3652-2A>GUnknown
ENST00000314315p.G70Cc.208G>TSubstitution - Missense
PLCXD2ENSG00000240891ENST00000393934p.C192Cc.576C>TSubstitution - coding silent
ASTE1ENSG00000034533ENST00000264992p.?c.1709+4A>GUnknown
AMOTL2ENSG00000114019ENST00000249883p.?c.1576-8C>TUnknown
LRP1BENSG00000168702ENST00000389484p.S885Sc.2655C>TSubstitution - coding silent
GPR98ENSG00000164199ENST00000405460p.F1575Lc.4723T>CSubstitution - Missense
EDIL3ENSG00000164176ENST00000296591p.Q19fs*6c.55_56insCInsertion - Frameshift
FAM9BENSG00000177138ENST00000327220p.L92Rc.275T>GSubstitution - Missense
ALS2CLENSG00000178038ENST00000318962p.K433fs*16c.1298_1299insTInsertion - Frameshift
XM_371474.2p.R643*c.1927C>TSubstitution - Nonsense
RAD17ENSG00000152942ENST00000509734p.G401Gc.1203G>ASubstitution - coding silent
MAP1BENSG00000131711ENST00000296755p.?c.7013-3A>GUnknown
C6orf52ENSG00000137434ENST00000259983p.C72Wc.216T>GSubstitution - Missense
NEDD9ENSG00000111859ENST00000379446p.V222Lc.664G>TSubstitution - Missense
FAM26DENSG00000164451ENST00000368596p.H239Hc.717C>TSubstitution - coding silent
ENST00000368626p.A55Tc.163G>ASubstitution - Missense
ZC3H7BENSG00000100403ENST00000352645p.?c.1198-9C>TUnknown
TMEM14CENSG00000111843ENST00000229563p.S83Fc.248C>TSubstitution - Missense
VCANENSG00000038427ENST00000265077p.S1642Yc.4925C>ASubstitution - Missense
ENST00000431461p.Y115Cc.344A>GSubstitution - Missense
MEF2CENSG00000081189ENST00000437473p.L169Pc.506T>CSubstitution - Missense
MEF2CENSG00000081189ENST00000424173p.L167Pc.500T>CSubstitution - Missense
VCANENSG00000038427ENST00000265077p.S29fs*32c.80_81insAInsertion - Frameshift
ZNF711ENSG00000147180ENST00000373165p.A294Vc.881C>TSubstitution - Missense
FGGENSG00000171557ENST00000336098p.S22Sc.66A>GSubstitution - coding silent
PPICENSG00000168938ENST00000306442p.G143Dc.428G>ASubstitution - Missense
GPR125ENSG00000152990ENST00000334304p.L74Mc.220C>ASubstitution - Missense
ACSL6ENSG00000164398ENST00000296869p.P287Hc.860C>ASubstitution - Missense
ARFIP1ENSG00000164144ENST00000451320p.Q91*c.271C>TSubstitution - Nonsense
ZNF462ENSG00000148143ENST00000457913p.P571Sc.1711C>TSubstitution - Missense
ZNF462ENSG00000148143ENST00000277225p.P1613fs*11c.4834delCDeletion - Frameshift
NKAIN2ENSG00000188580ENST00000368417p.G183Cc.547G>TSubstitution - Missense
RREB1ENSG00000124782ENST00000379938p.A604Vc.1811C>TSubstitution - Missense
MUSKENSG00000030304ENST00000374448p.L510Lc.1530T>CSubstitution - coding silent
CAGE1ENSG00000164304ENST00000502583p.Q43*c.127C>TSubstitution - Nonsense
CSMD3ENSG00000164796ENST00000343508p.Q2045*c.6133C>TSubstitution - Nonsense
OGFRL1ENSG00000119900ENST00000370435p.S385Ic.1154G>TSubstitution - Missense
MUSKENSG00000030304ENST00000374448p.L411Lc.1233G>ASubstitution - coding silent
CAGE1ENSG00000164304ENST00000296742p.N296fs*2c.880_881insAInsertion - Frameshift
GABBR2ENSG00000136928ENST00000259455p.K262Ec.784A>GSubstitution - Missense
HAP1ENSG00000173805ENST00000347901p.L468Ic.1402C>ASubstitution - Missense
ERLEC1ENSG00000068912ENST00000185150p.S441Lc.1322C>TSubstitution - Missense
LHCGRENSG00000138039ENST00000294954p.L401Ic.1201C>ASubstitution - Missense
COILENSG00000121058ENST00000240316p.K196fs*2c.586_587delAADeletion - Frameshift
SIX2ENSG00000170577ENST00000303077p.L157Lc.469C>TSubstitution - coding silent
DCHS2ENSG00000197410ENST00000357232p.E2895Kc.8683G>ASubstitution - Missense
LRFN3ENSG00000126243ENST00000246529p.P530Pc.1590G>ASubstitution - coding silent
WDR62ENSG00000075702ENST00000388999p.?c.1372-1G>AUnknown
PCDHGA6ENSG00000253731ENST00000517434p.E413Ec.1239A>GSubstitution - coding silent
CTSLENSG00000135047ENST00000343150p.T84Ic.251C>TSubstitution - Missense
HDAC3ENSG00000171720ENST00000305264p.R301*c.901C>TSubstitution - Nonsense
ZNF382ENSG00000161298ENST00000292928p.*551Qc.1651T>CNonstop extension
KIF27ENSG00000165115ENST00000297814p.E997Kc.2989G>ASubstitution - Missense
PCSK5ENSG00000099139ENST00000545128p.R511Cc.1531C>TSubstitution - Missense
MFI2ENSG00000163975ENST00000296350p.?c.1750+10G>AUnknown
ARHGEF38ENSG00000236699ENST00000420470p.I197Tc.590T>CSubstitution - Missense
DIDO1ENSG00000101191ENST00000395343p.I1134Fc.3400A>TSubstitution - Missense
PRR14LENSG00000183530ENST00000397493p.N955fs*6c.2859_2860insAInsertion - Frameshift
LARGEENSG00000133424ENST00000397394p.A701Vc.2102C>TSubstitution - Missense
C22orf31ENSG00000100249ENST00000216071p.L154fs*8c.453_454insAInsertion - Frameshift
KIAA1524ENSG00000163507ENST00000295746p.S201Nc.602G>ASubstitution - Missense
EIF5BENSG00000158417ENST00000289371p.D1017fs*12c.3042_3043insAInsertion - Frameshift
RBM10ENSG00000182872ENST00000377604p.S770Ic.2309G>TSubstitution - Missense
KDM6AENSG00000147050ENST00000377967p.G1223Gc.3669C>TSubstitution - coding silent
NM_006904p.A4081Sc.12241G>TSubstitution - Missense
ENST00000318252p.?c.4808-4A>GUnknown
XM_372202.2p.A247Sc.739G>TSubstitution - Missense
NKD2ENSG00000145506ENST00000296849p.S165Sc.495C>TSubstitution - coding silent
METAP1ENSG00000164024ENST00000296411p.R82Qc.245G>ASubstitution - Missense
LIMS1ENSG00000169756ENST00000542845p.L371Sc.1112T>CSubstitution - Missense
PAMENSG00000145730ENST00000455264p.?c.2539+6C>TUnknown
POU3F3ENSG00000198914ENST00000361360p.D66fs*>436c.190_191insGInsertion - Frameshift
SHANK3ENSG00000251322ENST00000262795p.G1077Gc.3231C>TSubstitution - coding silent
SCN10AENSG00000185313ENST00000449082p.C647Rc.1939T>CSubstitution - Missense
ZNF417ENSG00000173480ENST00000312026p.P407Pc.1221C>ASubstitution - coding silent
ZNF418ENSG00000196724ENST00000396147p.S268Rc.804T>ASubstitution - Missense
GRHL1ENSG00000134317ENST00000324907p.H126fs*13c.373delCDeletion - Frameshift
RPL28ENSG00000108107ENST00000558815p.S76Yc.227C>ASubstitution - Missense
ZNF416ENSG00000083817ENST00000196489p.S558Tc.1672T>ASubstitution - Missense
ZNF182ENSG00000147118ENST00000396965p.I531Kc.1592T>ASubstitution - Missense
DYSFENSG00000135636ENST00000258104p.N1668Nc.5004C>TSubstitution - coding silent
ARHGEF26ENSG00000114790ENST00000356448p.R821Cc.2461C>TSubstitution - Missense
ARHGEF26ENSG00000114790ENST00000356448p.R821Cc.2461C>TSubstitution - Missense
KIAA0895LENSG00000196123ENST00000290881p.V431Ac.1292T>CSubstitution - Missense
HLTFENSG00000071794ENST00000310053p.K99*c.295A>TSubstitution - Nonsense
ARHGEF26ENSG00000114790ENST00000356448p.A241fs*21c.717delCDeletion - Frameshift
LRRTM1ENSG00000162951ENST00000417012p.T405Kc.1214C>ASubstitution - Missense
KIFC3ENSG00000140859ENST00000379655p.L481Pc.1442T>CSubstitution - Missense
ZIC1ENSG00000152977ENST00000282928p.S426Tc.1276T>ASubstitution - Missense
PRMT7ENSG00000132600ENST00000339507p.D114Nc.340G>ASubstitution - Missense
ENST00000333535_v68p.R808Cc.2422C>TSubstitution - Missense
CNOT10ENSG00000182973ENST00000328834p.?c.1013-3T>CUnknown
TXLNBENSG00000164440ENST00000358430p.S216Rc.648T>ASubstitution - Missense
PCDH10ENSG00000138650ENST00000264360p.Y413Yc.1239C>TSubstitution - coding silent
LARP7ENSG00000174720ENST00000324052p.R279fs*5c.828_829insAInsertion - Frameshift
F8ENSG00000185010ENST00000360256p.K1212_I1213insKc.3637_3638insAAAInsertion - In frame
ENST00000381114p.T1332Ic.3995C>TSubstitution - Missense
HGFENSG00000019991ENST00000222390p.A710Ac.2130A>GSubstitution - coding silent
SEMA3CENSG00000075223ENST00000544525p.S383Sc.1149C>ASubstitution - coding silent
OPRM1ENSG00000112038ENST00000434900p.P491Lc.1472C>TSubstitution - Missense
AGPAT4ENSG00000026652ENST00000320285p.R193Qc.578G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.R8372*c.25114C>TSubstitution - Nonsense
IL1F10ENSG00000136697ENST00000337569p.G26fs*7c.74_75insTInsertion - Frameshift
CLHC1ENSG00000162994ENST00000407122p.K150Kc.450A>GSubstitution - coding silent
PARP15ENSG00000173200ENST00000310366p.L136Ic.406T>ASubstitution - Missense
TMBIM1ENSG00000135926ENST00000258412p.M185Ic.555G>ASubstitution - Missense
VIL1ENSG00000127831ENST00000248444p.R620fs*4c.1858_1859insCInsertion - Frameshift
SLC23A3ENSG00000213901ENST00000455516p.P202Pc.606C>ASubstitution - coding silent
COL6A3ENSG00000163359ENST00000392004p.P976Lc.2927C>TSubstitution - Missense
CDKL5ENSG00000008086ENST00000379996p.Y384Yc.1152C>TSubstitution - coding silent
DESENSG00000175084ENST00000373960p.S13delSc.34_36delTCCDeletion - In frame
CKAP2LENSG00000169607ENST00000302450p.H170Hc.510T>CSubstitution - coding silent
POM121ENSG00000196313ENST00000257622p.T852Tc.2556C>TSubstitution - coding silent
UBR2ENSG00000024048ENST00000372899p.W1505Lc.4514G>TSubstitution - Missense
SCUBE1ENSG00000159307ENST00000360835p.M107Vc.319A>GSubstitution - Missense
MCM2ENSG00000073111ENST00000265056p.L248Lc.744G>ASubstitution - coding silent
ABHD10ENSG00000144827ENST00000273359p.P145Sc.433C>TSubstitution - Missense
ZNF43ENSG00000198521ENST00000354959p.K595Ec.1783A>GSubstitution - Missense
ZBTB5ENSG00000168795ENST00000307750p.A289Ac.867C>TSubstitution - coding silent
ARHGEF39ENSG00000137135ENST00000378387p.?c.993-3C>TUnknown
ACO1ENSG00000122729ENST00000379923p.G763Cc.2287G>TSubstitution - Missense
CCINENSG00000185972ENST00000335119p.A417Tc.1249G>ASubstitution - Missense
GLIS3ENSG00000107249ENST00000381971p.?c.2473+9G>TUnknown
XM_291314.4p.R25Cc.73C>TSubstitution - Missense
EDEM2ENSG00000088298ENST00000374492p.E426Kc.1276G>ASubstitution - Missense
SPECC1ENSG00000128487ENST00000395527p.V678Dc.2033T>ASubstitution - Missense
ADAMTS9ENSG00000163638ENST00000498707p.G747Gc.2241C>TSubstitution - coding silent
CDCA2ENSG00000184661ENST00000330560p.I32Ic.96T>CSubstitution - coding silent
ULK2ENSG00000083290ENST00000361658p.?c.184-1G>TUnknown
AKAP10ENSG00000108599ENST00000225737p.S231Nc.692G>ASubstitution - Missense
LGI3ENSG00000168481ENST00000306317p.A193Ac.579A>CSubstitution - coding silent
CHMP7ENSG00000147457ENST00000397677p.T291Sc.871A>TSubstitution - Missense
CHMP7ENSG00000147457ENST00000397677p.?c.1301-6T>CUnknown
SLC26A7ENSG00000147606ENST00000276609p.?c.305-1G>AUnknown
CDH2ENSG00000170558ENST00000269141p.?c.1021-4T>GUnknown
MRC2ENSG00000011028ENST00000303375p.C1243Yc.3728G>ASubstitution - Missense
ENST00000330917p.M111Ic.333G>ASubstitution - Missense
SLC47A1ENSG00000142494ENST00000270570p.?c.307-8C>TUnknown
KCNJ12ENSG00000184185ENST00000331718p.I12Ic.36C>ASubstitution - coding silent
ACEENSG00000159640ENST00000490216p.Y126Cc.377A>GSubstitution - Missense
RRP1BENSG00000160208ENST00000340648p.K238Rc.713A>GSubstitution - Missense
ZBTB21ENSG00000173276ENST00000398499p.V1020Vc.3060G>ASubstitution - coding silent
DSCAMENSG00000171587ENST00000400454p.Y1060Yc.3180C>TSubstitution - coding silent
CCDC178ENSG00000166960ENST00000383096p.D296Dc.888C>TSubstitution - coding silent
SMCHD1ENSG00000101596ENST00000320876p.Y334Hc.1000T>CSubstitution - Missense
PRKCSHENSG00000130175ENST00000252455p.T444Ic.1331C>TSubstitution - Missense
HGSENSG00000185359ENST00000329138p.A627Ac.1881T>CSubstitution - coding silent
LAMA3ENSG00000053747ENST00000313654p.E2484Dc.7452G>TSubstitution - Missense
NEUROD2ENSG00000171532ENST00000302584p.D318Nc.952G>ASubstitution - Missense
P2RX1ENSG00000108405ENST00000225538p.H361Yc.1081C>TSubstitution - Missense
IKZF3ENSG00000161405ENST00000346872p.T387Tc.1161G>ASubstitution - coding silent
USO1ENSG00000138768ENST00000538159p.?c.1892-1G>TUnknown
CX3CL1ENSG00000006210ENST00000006053p.L380Ic.1138C>ASubstitution - Missense
MGAMENSG00000257335ENST00000475668p.N505Kc.1515C>ASubstitution - Missense
PRDM14ENSG00000147596ENST00000276594p.G281Gc.843G>ASubstitution - coding silent
KIF25ENSG00000125337ENST00000354419p.V145Vc.435C>TSubstitution - coding silent
KIAA1549ENSG00000122778ENST00000422774p.G773fs*3c.2316_2317insCInsertion - Frameshift
POC1AENSG00000164087ENST00000296484p.E396Ac.1187A>CSubstitution - Missense
KIF13AENSG00000137177ENST00000378814p.D778Nc.2332G>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.M2936Vc.8806A>GSubstitution - Missense
EPHB6ENSG00000106123ENST00000392957p.V405Dc.1214T>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.T18263Sc.54787A>TSubstitution - Missense
CECR2ENSG00000099954ENST00000400585p.T558fs*98c.1665_1666insCInsertion - Frameshift
ENST00000356127p.S20513Sc.61539C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.S19370Tc.58108T>ASubstitution - Missense
NM_003319p.S19178Tc.57532T>ASubstitution - Missense
DGCR8ENSG00000128191ENST00000351989p.Q736Qc.2208A>GSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.R19133Gc.57397A>GSubstitution - Missense
USP14ENSG00000101557ENST00000261601p.R293Qc.878G>ASubstitution - Missense
MYH3ENSG00000109063ENST00000226209p.C706Yc.2117G>ASubstitution - Missense
MYH13ENSG00000006788ENST00000252172p.L478Mc.1432C>ASubstitution - Missense
CREBBPENSG00000005339ENST00000262367p.R14fs*13c.36_37insAInsertion - Frameshift
ITGAMENSG00000169896ENST00000287497p.F17Lc.49T>CSubstitution - Missense
PER2ENSG00000132326ENST00000254657p.V436Mc.1306G>ASubstitution - Missense
SF3B1ENSG00000115524ENST00000335508p.I932Ic.2796C>TSubstitution - coding silent
DTNBENSG00000138101ENST00000406818p.?c.1458-4A>GUnknown
NDUFA10ENSG00000130414ENST00000252711p.H202fs*25c.597_598insCInsertion - Frameshift
TTNENSG00000155657ENST00000359218p.A18772Vc.56315C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.D30239Hc.90715G>CSubstitution - Missense
ENST00000356127p.D30237Hc.90709G>CSubstitution - Missense
CENPEENSG00000138778ENST00000265148p.P1293Sc.3877C>TSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.D198Nc.592G>ASubstitution - Missense
SLC1A7ENSG00000162383ENST00000371494p.S48Nc.143G>ASubstitution - Missense
SOS2ENSG00000100485ENST00000216373p.P1318Lc.3953C>TSubstitution - Missense
LRRK1ENSG00000154237ENST00000388948p.A684Tc.2050G>ASubstitution - Missense
NPAS3ENSG00000151322ENST00000357798p.N38fs*34c.110delADeletion - Frameshift
FBN1ENSG00000166147ENST00000316623p.N1581Sc.4742A>GSubstitution - Missense
PRKAA2ENSG00000162409ENST00000371244p.V397Mc.1189G>ASubstitution - Missense
CASC5ENSG00000137812ENST00000346991p.V871Ac.2612T>CSubstitution - Missense
CASC5ENSG00000137812ENST00000346991p.A1356fs*9c.4065_4066insAInsertion - Frameshift
DNAJC21ENSG00000168724ENST00000303525p.R182*c.544C>TSubstitution - Nonsense
MLKLENSG00000168404ENST00000308807p.R292Kc.875G>ASubstitution - Missense
EGFLAMENSG00000164318ENST00000322350p.S367fs*12c.1097_1098insGInsertion - Frameshift
C5orf42ENSG00000197603ENST00000274258p.H1992fs*18c.5966_5967insAInsertion - Frameshift
IRX1ENSG00000170549ENST00000302006p.L261Ic.781C>ASubstitution - Missense
FLRT2ENSG00000185070ENST00000330753p.H11Rc.32A>GSubstitution - Missense
ZFYVE19ENSG00000166140ENST00000336455p.A353Vc.1058C>TSubstitution - Missense
VPS13CENSG00000129003ENST00000395896p.G705Dc.2114G>ASubstitution - Missense
ATG14ENSG00000126775ENST00000247178p.R442Gc.1324C>GSubstitution - Missense
CEP128ENSG00000100629ENST00000281129p.C878Cc.2634T>CSubstitution - coding silent
PHACTR4ENSG00000204138ENST00000373836p.T328fs*4c.977_978insAInsertion - Frameshift
LEPRENSG00000116678ENST00000371060p.Q501fs*14c.1495_1496insTInsertion - Frameshift
C8BENSG00000021852ENST00000371237p.R280Kc.839G>ASubstitution - Missense
SEPN1ENSG00000162430ENST00000361547p.R327Cc.979C>TSubstitution - Missense
CHD5ENSG00000116254ENST00000262450p.I1137Ic.3411C>TSubstitution - coding silent
LRRC53ENSG00000162621ENST00000416014p.T252Tc.756C>TSubstitution - coding silent
ENST00000329206p.L294fs*104c.879_880insTInsertion - Frameshift
NM_014363.3p.V1623Mc.4867G>ASubstitution - Missense
SACSENSG00000151835ENST00000382298p.Q1114Hc.3342G>TSubstitution - Missense
SACSENSG00000151835ENST00000382298p.G2885Cc.8653G>TSubstitution - Missense
COL4A2ENSG00000134871ENST00000360467p.G97fs*2c.284delCDeletion - Frameshift
PGBD4ENSG00000182405ENST00000397766p.V431Vc.1293G>ASubstitution - coding silent
C20orf26ENSG00000089101ENST00000245957p.F411Fc.1233C>TSubstitution - coding silent
SIRPB2ENSG00000196209ENST00000537284p.W22Lc.65G>TSubstitution - Missense
CENPNENSG00000166451ENST00000305850p.L31fs*3c.86_87insTInsertion - Frameshift
PLCG2ENSG00000197943ENST00000359376p.M468Tc.1403T>CSubstitution - Missense
WWOXENSG00000186153ENST00000566780p.V76fs*2c.225_226insTInsertion - Frameshift
STAG2ENSG00000101972ENST00000371160p.S1004Gc.3010A>GSubstitution - Missense
BCORL1ENSG00000085185ENST00000218147p.L466Vc.1396C>GSubstitution - Missense
CHD7ENSG00000171316ENST00000423902p.I805Nc.2414T>ASubstitution - Missense
ANKARENSG00000151687ENST00000520309p.R1159Hc.3476G>ASubstitution - Missense
ABCA12ENSG00000144452ENST00000272895p.V1404fs*33c.4204_4205insTInsertion - Frameshift
SNTG1ENSG00000147481ENST00000518864p.?c.811-3C>TUnknown
NXT1ENSG00000132661ENST00000254998p.E18Dc.54G>TSubstitution - Missense
PXDNLENSG00000147485ENST00000356297p.S1254Nc.3761G>ASubstitution - Missense
HNRNPH2ENSG00000126945ENST00000316594p.R199fs*13c.593_594insCInsertion - Frameshift
BEX1ENSG00000133169ENST00000372728p.Q57Qc.171G>ASubstitution - coding silent
MPRIPENSG00000133030ENST00000341712p.T166fs*29c.495_496insCInsertion - Frameshift
SU_WNK2p.P1016Pc.3048C>ASubstitution - coding silent
MCMDC2ENSG00000178460ENST00000422365p.C484*c.1452C>ASubstitution - Nonsense
PRSS57ENSG00000185198ENST00000329267p.G89Gc.267C>TSubstitution - coding silent
ZNF558ENSG00000167785ENST00000301475p.A272fs*13c.809_810insAInsertion - Frameshift
VCPIP1ENSG00000175073ENST00000310421p.E892fs*8c.2673delADeletion - Frameshift
NM_144967.2p.L86Mc.256C>ASubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.P1155Lc.3464C>TSubstitution - Missense
ENST00000418100_v65p.H192Yc.574C>TSubstitution - Missense
SLC4A11ENSG00000088836ENST00000380056p.?c.1463+2T>CUnknown
ENST00000246798p.Q1197*c.3589C>TSubstitution - Nonsense
KLK9ENSG00000213022ENST00000376832p.E85Dc.255G>TSubstitution - Missense
KLK10ENSG00000129451ENST00000391805p.N39Dc.115A>GSubstitution - Missense
SHANK1ENSG00000161681ENST00000293441p.D113Vc.338A>TSubstitution - Missense
SIGLEC9ENSG00000129450ENST00000250360p.E155Ec.465G>ASubstitution - coding silent
FBXW10ENSG00000171931ENST00000395667p.G919Dc.2756G>ASubstitution - Missense
GNA15ENSG00000060558ENST00000262958p.Y238Nc.712T>ASubstitution - Missense
SMCR8ENSG00000176994ENST00000406438p.L199fs*33c.586_587insAInsertion - Frameshift
SEC14L1ENSG00000129657ENST00000392476p.H279Yc.835C>TSubstitution - Missense
ENST00000289630p.R428Wc.1282C>TSubstitution - Missense
SMPD1ENSG00000166311ENST00000342245p.S340Sc.1020C>ASubstitution - coding silent
FBLIM1ENSG00000162458ENST00000375771p.P170Pc.510G>ASubstitution - coding silent
NM_004667.3p.A1276Tc.3826G>ASubstitution - Missense
NM_004667.3p.D1214Vc.3641A>TSubstitution - Missense
TSG101ENSG00000074319ENST00000251968p.?c.640+7A>GUnknown
NM_004667.3p.D4275Dc.12825C>TSubstitution - coding silent
CSDE1ENSG00000009307ENST00000369530p.K288Kc.864A>GSubstitution - coding silent
PXNENSG00000089159ENST00000424649p.P290fs*22c.869delCDeletion - Frameshift
SLC2A1ENSG00000117394ENST00000415851p.V69Vc.207G>TSubstitution - coding silent
MFAP1ENSG00000140259ENST00000267812p.E165Gc.494A>GSubstitution - Missense
UBR1ENSG00000159459ENST00000290650p.W552*c.1656G>ASubstitution - Nonsense
NOTCH2ENSG00000134250ENST00000256646p.H1133Yc.3397C>TSubstitution - Missense
NAT10ENSG00000135372ENST00000257829p.F187Sc.560T>CSubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.T916Sc.2746A>TSubstitution - Missense
ENST00000426033p.L2111Vc.6331T>GSubstitution - Missense
GPATCH2LENSG00000089916ENST00000261530p.?c.1052+2T>CUnknown
ANK3ENSG00000151150ENST00000280772p.D3551fs*21c.10651delGDeletion - Frameshift
SLC16A9ENSG00000165449ENST00000395347p.G62Cc.184G>TSubstitution - Missense
CLEC16AENSG00000038532ENST00000409552p.R868Cc.2602C>TSubstitution - Missense
DDX54ENSG00000123064ENST00000306014p.R226Wc.676C>TSubstitution - Missense
CITENSG00000122966ENST00000261833p.A1078Tc.3232G>ASubstitution - Missense
PLOD1ENSG00000083444ENST00000196061p.E343Ec.1029G>ASubstitution - coding silent
DNAH3ENSG00000158486ENST00000261383p.T2487Tc.7461C>TSubstitution - coding silent
DNAH3ENSG00000158486ENST00000261383p.G2193fs*6c.6570_6571insCInsertion - Frameshift
ABCC6ENSG00000091262ENST00000205557p.A1309Vc.3926C>TSubstitution - Missense
SLC39A12ENSG00000148482ENST00000377369p.Q105Rc.314A>GSubstitution - Missense
C10orf126ENSG00000204365ENST00000375520p.D45Yc.133G>TSubstitution - Missense
ACSM3ENSG00000005187ENST00000289416p.T549fs*11c.1639delADeletion - Frameshift
TMC7ENSG00000170537ENST00000304381p.G248Ec.743G>ASubstitution - Missense
ASPMENSG00000066279ENST00000367409p.R2251fs*1c.6745_6746insTInsertion - Frameshift
ACSM1ENSG00000166743ENST00000307493p.F49Sc.146T>CSubstitution - Missense
MYO3AENSG00000095777ENST00000265944p.L1446Mc.4336T>ASubstitution - Missense
PPP2R1BENSG00000137713ENST00000311129p.I290fs*3c.868delADeletion - Frameshift
GUCY1A2ENSG00000152402ENST00000526355p.S649Tc.1945T>ASubstitution - Missense
MUC2ENSG00000198788ENST00000441003p.R973Mc.2918G>TSubstitution - Missense
MUC2ENSG00000198788ENST00000359061p.R973Mc.2918G>TSubstitution - Missense
DEPDC7ENSG00000121690ENST00000311388p.Y239Hc.715T>CSubstitution - Missense
GRIA4ENSG00000152578ENST00000282499p.H457Yc.1369C>TSubstitution - Missense
SIK2ENSG00000170145ENST00000304987p.I51Ic.153C>TSubstitution - coding silent
ZFC3H1ENSG00000133858ENST00000378743p.T1018Ic.3053C>TSubstitution - Missense
ZNF384ENSG00000126746ENST00000396795p.P188Hc.563C>ASubstitution - Missense
ABL2ENSG00000143322ENST00000502732p.Y218Hc.652T>CSubstitution - Missense
ZBTB16ENSG00000109906ENST00000335953p.M429Tc.1286T>CSubstitution - Missense
MRPL23ENSG00000214026ENST00000381519p.F151Fc.453C>TSubstitution - coding silent
CDC73ENSG00000134371ENST00000367435p.G456Dc.1367G>ASubstitution - Missense
EXOSC10ENSG00000171824ENST00000376936p.Q89Rc.266A>GSubstitution - Missense
GJA8ENSG00000121634ENST00000369235p.G315Gc.945C>ASubstitution - coding silent
ALDH4A1ENSG00000159423ENST00000290597p.V262Vc.786G>ASubstitution - coding silent
ONECUT1ENSG00000169856ENST00000305901p.P95fs*3c.284delCDeletion - Frameshift
TRIM49CENSG00000204449ENST00000432771p.?c.859+1G>TUnknown
UNC13CENSG00000137766ENST00000260323p.?c.5959-7T>CUnknown
RFX7ENSG00000181827ENST00000423270p.L835Lc.2503C>TSubstitution - coding silent
DNAH10ENSG00000197653ENST00000409039p.?c.9643+10G>TUnknown
TMEM132DENSG00000151952ENST00000422113p.K779Ec.2335A>GSubstitution - Missense
GPR133ENSG00000111452ENST00000261654p.A528Ac.1584G>ASubstitution - coding silent
APOA5ENSG00000110243ENST00000227665p.Y194Yc.582C>TSubstitution - coding silent
OR4F15ENSG00000182854ENST00000332238p.S20Lc.59C>TSubstitution - Missense
ILF2ENSG00000143621ENST00000361891p.R43fs*16c.127delCDeletion - Frameshift
CACNA1CENSG00000151067ENST00000399617p.P1820Pc.5460G>ASubstitution - coding silent
DSTYKENSG00000133059ENST00000367162p.?c.2239-3A>TUnknown
PPFIA4ENSG00000143847ENST00000272198p.R500Wc.1498C>TSubstitution - Missense
EXOC5ENSG00000070367ENST00000413566p.?c.715-8C>TUnknown
MEF2AENSG00000068305ENST00000354410p.?c.677-9T>CUnknown
POLR3BENSG00000013503ENST00000228347p.D987Vc.2960A>TSubstitution - Missense
ATXN2ENSG00000204842ENST00000377617p.I864Tc.2591T>CSubstitution - Missense
ENST00000417858p.I25Ic.75C>TSubstitution - coding silent
ANKRD13AENSG00000076513ENST00000261739p.I116fs*24c.346_347insAInsertion - Frameshift
TAS2R42ENSG00000186136ENST00000334266p.Q251*c.751C>TSubstitution - Nonsense
LRCH1ENSG00000136141ENST00000389798p.L213Lc.637C>TSubstitution - coding silent
THSD4ENSG00000187720ENST00000355327p.K474Ec.1420A>GSubstitution - Missense
FARP1ENSG00000152767ENST00000319562p.C522Cc.1566C>TSubstitution - coding silent
RASGEF1AENSG00000198915ENST00000395809p.T199Tc.597C>ASubstitution - coding silent
ANKRD30AENSG00000148513ENST00000361713p.T268fs*3c.802_803insAInsertion - Frameshift
COL11A1ENSG00000060718ENST00000358392p.G1537Dc.4610G>ASubstitution - Missense
ZNF33AENSG00000189180ENST00000307441p.K165Rc.494A>GSubstitution - Missense
HS6ST3ENSG00000185352ENST00000376705p.P276Sc.826C>TSubstitution - Missense
ENST00000358674p.S553Sc.1659A>GSubstitution - coding silent
ANXA7ENSG00000138279ENST00000372919p.P33Pc.99T>CSubstitution - coding silent
HNRNPA1ENSG00000135486ENST00000340913p.A100Ac.300C>ASubstitution - coding silent
OR2AP1ENSG00000179615ENST00000321688p.Y130Yc.390C>TSubstitution - coding silent
ITGB7ENSG00000139626ENST00000422257p.G632Dc.1895G>ASubstitution - Missense
HOXC6ENSG00000197757ENST00000243108p.C87Cc.261C>TSubstitution - coding silent
OTOGLENSG00000165899ENST00000458043p.E78Dc.234A>TSubstitution - Missense
LRRIQ1ENSG00000133640ENST00000393217p.A1404Vc.4211C>TSubstitution - Missense
URB2ENSG00000135763ENST00000258243p.N371Nc.1113T>CSubstitution - coding silent
MARSENSG00000166986ENST00000262027p.Q330fs*13c.982_983insCInsertion - Frameshift
CHRM4ENSG00000180720ENST00000433765p.N50Sc.149A>GSubstitution - Missense
CCDC15ENSG00000149548ENST00000344762p.V700Dc.2099T>ASubstitution - Missense
CYP2C9ENSG00000138109ENST00000260682p.G98Dc.293G>ASubstitution - Missense
BLNKENSG00000095585ENST00000224337p.T258Tc.774A>TSubstitution - coding silent
NM_000770.2p.P37Hc.110C>ASubstitution - Missense
GOLGA3ENSG00000090615ENST00000204726p.Q275Rc.824A>GSubstitution - Missense
B3GALNT2ENSG00000162885ENST00000366600p.R454fs*28c.1360delADeletion - Frameshift
ART4ENSG00000111339ENST00000228936p.P249Pc.747C>ASubstitution - coding silent
PIK3C2GENSG00000139144ENST00000433979p.P30Sc.88C>TSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.G2576Cc.7726G>TSubstitution - Missense
LYSTENSG00000143669ENST00000389793p.?c.7972+3A>GUnknown
LYSTENSG00000143669ENST00000389793p.G2375Gc.7125A>TSubstitution - coding silent
SU_OBSCN.1p.A5811Vc.17432C>TSubstitution - Missense
OR10J5ENSG00000184155ENST00000334857p.V105fs*6c.312_313insTInsertion - Frameshift
ARHGEF25ENSG00000240771ENST00000333972p.L167Lc.501G>ASubstitution - coding silent
ARHGEF40ENSG00000165801ENST00000298694p.D566Dc.1698C>TSubstitution - coding silent
NOP9ENSG00000196943ENST00000267425p.P379Hc.1136C>ASubstitution - Missense
DTX4ENSG00000110042ENST00000227451p.H9Hc.27T>CSubstitution - coding silent
DHX32ENSG00000089876ENST00000284690p.M165Vc.493A>GSubstitution - Missense
RELTENSG00000054967ENST00000064780p.G54fs*69c.158_159insCInsertion - Frameshift
MYO7AENSG00000137474ENST00000409709p.R1696Wc.5086C>TSubstitution - Missense
WHAMMENSG00000156232ENST00000286760p.R16Qc.47G>ASubstitution - Missense
PCENSG00000173599ENST00000393955p.L619Pc.1856T>CSubstitution - Missense
DCHS1ENSG00000166341ENST00000299441p.R235fs*16c.696_697insCInsertion - Frameshift
PHRF1ENSG00000070047ENST00000416188p.P123Lc.368C>TSubstitution - Missense
ENST00000368577p.C432fs*42c.1289delCDeletion - Frameshift
TUT1ENSG00000149016ENST00000308436p.G242Dc.725G>ASubstitution - Missense
NOVA1ENSG00000139910ENST00000344429p.N143Dc.427A>GSubstitution - Missense
NGDNENSG00000129460ENST00000397154p.S79Pc.235T>CSubstitution - Missense
GAS2L3ENSG00000139354ENST00000266754p.L605Sc.1814T>CSubstitution - Missense
IGF1ENSG00000017427ENST00000307046p.P138fs*>58c.413delCDeletion - Frameshift
RGS7ENSG00000182901ENST00000366565p.A450Vc.1349C>TSubstitution - Missense
PDZD7ENSG00000186862ENST00000370215p.G453Gc.1359G>ASubstitution - coding silent
FAM178AENSG00000119906ENST00000238961p.P557fs*37c.1666delCDeletion - Frameshift
STPG1ENSG00000001460ENST00000374409p.P150Lc.449C>TSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.Q1126Hc.3378G>TSubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.A3378Ac.10134G>ASubstitution - coding silent
AGO4ENSG00000134698ENST00000373210p.?c.185+2T>AUnknown
CSF3RENSG00000119535ENST00000373104p.D702Gc.2105A>GSubstitution - Missense
RNF19BENSG00000116514ENST00000373456p.A63Tc.187G>ASubstitution - Missense
NM_006105.3p.?c.1347+1G>AUnknown
ATXN2LENSG00000168488ENST00000340394p.Q1002fs*>43c.2992delGDeletion - Frameshift
FAM129CENSG00000167483ENST00000300971p.L218Lc.652C>TSubstitution - coding silent
ANKLE1ENSG00000160117ENST00000433424p.P350Hc.1049C>ASubstitution - Missense
OSBPL6ENSG00000079156ENST00000315022p.?c.2314-1G>AUnknown
MEGF11ENSG00000157890ENST00000360698p.?c.301+8G>AUnknown
LIMS1ENSG00000169756ENST00000409441p.L346Sc.1037T>CSubstitution - Missense
SLC8A1ENSG00000183023ENST00000542024p.G43*c.127G>TSubstitution - Nonsense
FBXW10ENSG00000171931ENST00000308799p.C255Cc.765C>TSubstitution - coding silent
TRIP10ENSG00000125733ENST00000596758p.V267Dc.800T>ASubstitution - Missense
DZANK1ENSG00000089091ENST00000357236p.C192Yc.575G>ASubstitution - Missense
DZANK1ENSG00000089091ENST00000329494p.T208Ic.623C>TSubstitution - Missense
TADA2AENSG00000108264ENST00000417170p.N120Dc.358A>GSubstitution - Missense
PLEKHG5ENSG00000171680ENST00000537245p.R369fs*25c.1105delCDeletion - Frameshift
MIPOL1ENSG00000151338ENST00000545536p.N341fs*24c.1017delADeletion - Frameshift
LAMA5ENSG00000130702ENST00000370692p.C396Cc.1188C>TSubstitution - coding silent
ENSG00000150076ENST00000375025p.?c.1274-200_1441+14del598Unknown
LRRTM2ENSG00000146006ENST00000274711p.W252Cc.756G>TSubstitution - Missense
PKD2L2ENSG00000078795ENST00000508883p.P186Hc.557C>ASubstitution - Missense
TMEM95ENSG00000182896ENST00000389982p.?c.226+7T>AUnknown
PDE4AENSG00000065989ENST00000380702p.Y554*c.1662C>ASubstitution - Nonsense
MPDZENSG00000107186ENST00000319217p.S762Gc.2284A>GSubstitution - Missense
DDX39BENSG00000198563ENST00000417556p.L11Lc.31T>CSubstitution - coding silent
FAM26DENSG00000164451ENST00000416171p.H95Hc.285C>TSubstitution - coding silent
AGPAT4ENSG00000026652ENST00000366905p.L37Ic.109C>ASubstitution - Missense
MYO6ENSG00000196586ENST00000369981p.?c.553+7C>AUnknown
SYNE1ENSG00000131018ENST00000448038p.A3532Vc.10595C>TSubstitution - Missense
COL21A1ENSG00000124749ENST00000244728p.A225Dc.674C>ASubstitution - Missense
SCARA5ENSG00000168079ENST00000524352p.F77Lc.229T>CSubstitution - Missense
POM121ENSG00000196313ENST00000434423p.T1117Tc.3351C>TSubstitution - coding silent
ART3ENSG00000156219ENST00000355810p.?c.937+10T>GUnknown
MAGI2ENSG00000187391ENST00000535697p.G462*c.1384G>TSubstitution - Nonsense
HDAC9ENSG00000048052ENST00000441542p.S394Tc.1181G>CSubstitution - Missense
BRD3ENSG00000169925ENST00000371834p.W96*c.288G>ASubstitution - Nonsense
MCMDC2ENSG00000178460ENST00000313616p.E117Ac.350A>CSubstitution - Missense
CACNA1BENSG00000148408ENST00000277549p.S420Nc.1259G>ASubstitution - Missense
TEX10ENSG00000136891ENST00000535814p.E383Ec.1149G>ASubstitution - coding silent
NSUN2ENSG00000037474ENST00000264670p.V501Mc.1501G>ASubstitution - Missense
PARD3BENSG00000116117ENST00000358768p.T775fs*13c.2317delADeletion - Frameshift
SLC6A5ENSG00000165970ENST00000525748p.?c.541-8G>AUnknown
NDST2ENSG00000166507ENST00000309979p.L191fs*12c.572delTDeletion - Frameshift
DNERENSG00000187957ENST00000341772p.C578Cc.1734C>TSubstitution - coding silent
ANKRD30AENSG00000148513ENST00000361713p.K437Nc.1311G>TSubstitution - Missense
PAPPA2ENSG00000116183ENST00000367662p.Y893Cc.2678A>GSubstitution - Missense
KAT2AENSG00000108773ENST00000225916p.C120Yc.359G>ASubstitution - Missense
ZHX2ENSG00000178764ENST00000314393p.V42Mc.124G>ASubstitution - Missense
SIM1ENSG00000112246ENST00000262901p.S724Sc.2172C>TSubstitution - coding silent
KLHDC8AENSG00000162873ENST00000367155p.G86Gc.258C>TSubstitution - coding silent
RYR2ENSG00000198626ENST00000366574p.S2246Sc.6738G>ASubstitution - coding silent
RNF148ENSG00000235631ENST00000434824p.T10Tc.30G>ASubstitution - coding silent
RNF148ENSG00000235631ENST00000434824p.T10Tc.30G>ASubstitution - coding silent
CCDC73ENSG00000186714ENST00000335185p.E448fs*5c.1341delADeletion - Frameshift
ATP2B1ENSG00000070961ENST00000359142p.G873Gc.2619C>TSubstitution - coding silent
CAMK2BENSG00000058404ENST00000395749p.R75Cc.223C>TSubstitution - Missense
HYAL2ENSG00000068001ENST00000395139p.R192Cc.574C>TSubstitution - Missense
ERBB3ENSG00000065361ENST00000267101p.E928Gc.2783A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.N4902fs*8c.14705delADeletion - Frameshift
DDX17ENSG00000100201ENST00000403230p.K121fs*4c.362delADeletion - Frameshift
ZNF609ENSG00000180357ENST00000326648p.A221fs*22c.658delGDeletion - Frameshift
TUSC3ENSG00000104723ENST00000382020p.R63Cc.187C>TSubstitution - Missense
SHC1ENSG00000160691ENST00000368453p.V253fs*2c.757delGDeletion - Frameshift
TTNENSG00000155657ENST00000342992p.P9886Hc.29657C>ASubstitution - Missense
MYCBP2ENSG00000005810ENST00000407578p.L1063fs*4c.3182_3183insTInsertion - Frameshift
STYK1ENSG00000060140ENST00000075503p.A148Dc.443C>ASubstitution - Missense
SART3ENSG00000075856ENST00000228284p.H521Hc.1563T>CSubstitution - coding silent
GABBR1ENSG00000204681ENST00000377034p.P222fs*77c.665delCDeletion - Frameshift
IL12BENSG00000113302ENST00000231228p.E253Ec.759G>ASubstitution - coding silent
GTF2H4ENSG00000213780ENST00000259895p.A356Tc.1066G>ASubstitution - Missense
NCR3ENSG00000204475ENST00000376073p.E72*c.214G>TSubstitution - Nonsense
LAMB4ENSG00000091128ENST00000205386p.Q1672fs*8c.5007_5008insAInsertion - Frameshift
KELENSG00000197993ENST00000355265p.R292Wc.874C>TSubstitution - Missense
WFS1ENSG00000109501ENST00000226760p.V258Ic.772G>ASubstitution - Missense
TWISTNBENSG00000105849ENST00000222567p.A251Tc.751G>ASubstitution - Missense
KDRENSG00000128052ENST00000263923p.I915Tc.2744T>CSubstitution - Missense
ISPDENSG00000214960ENST00000407010p.P259Tc.775C>ASubstitution - Missense
KDRENSG00000128052ENST00000263923p.?c.799-10T>GUnknown
PPIL2ENSG00000100023ENST00000335025p.D154Vc.461A>TSubstitution - Missense
PLD3ENSG00000105223ENST00000409587p.?c.27+4G>TUnknown
ENSG00000141854ENST00000269720p.P138fs*30c.409delCDeletion - Frameshift
RND3ENSG00000115963ENST00000263895p.N202Dc.604A>GSubstitution - Missense
ARHGEF1ENSG00000076928ENST00000337665p.S54Tc.160T>ASubstitution - Missense
ZNF223ENSG00000178386ENST00000434772p.D35Vc.104A>TSubstitution - Missense
IGSF23ENSG00000216588ENST00000402988p.V42Vc.126C>TSubstitution - coding silent
LPIN3ENSG00000132793ENST00000373257p.Q211fs*8c.631_632insCInsertion - Frameshift
SEMG1ENSG00000124233ENST00000372781p.R80*c.238C>TSubstitution - Nonsense
UPP2ENSG00000007001ENST00000005756p.M71Kc.212T>ASubstitution - Missense
MBD5ENSG00000204406ENST00000407073p.P901Sc.2701C>TSubstitution - Missense
ZFP2ENSG00000198939ENST00000361362p.P325Hc.974C>ASubstitution - Missense
PPWD1ENSG00000113593ENST00000261308p.V596Vc.1788A>GSubstitution - coding silent
CLK4ENSG00000113240ENST00000316308p.?c.826+5G>CUnknown
PHYKPLENSG00000175309ENST00000308158p.R175Wc.523C>TSubstitution - Missense
EXOC3ENSG00000180104ENST00000315013p.G701Gc.2103G>TSubstitution - coding silent
CUL9ENSG00000112659ENST00000252050p.D2468Dc.7404C>TSubstitution - coding silent
GLYATL3ENSG00000203972ENST00000371197p.A162Ac.486G>ASubstitution - coding silent
CUTAENSG00000112514ENST00000374500p.S146Nc.437G>ASubstitution - Missense
POLR3EENSG00000058600ENST00000299853p.K359Kc.1077G>ASubstitution - coding silent
PHF20L1ENSG00000129292ENST00000220847p.G705Gc.2115T>ASubstitution - coding silent
RPL12ENSG00000197958ENST00000361436p.D52Dc.156C>TSubstitution - coding silent
RFC4ENSG00000163918ENST00000392481p.K294Nc.882G>TSubstitution - Missense
DOLKENSG00000175283ENST00000372586p.G269Dc.806G>ASubstitution - Missense
ZER1ENSG00000160445ENST00000291900p.K346Nc.1038A>CSubstitution - Missense
WWC1ENSG00000113645ENST00000265293p.S544fs*29c.1625delCDeletion - Frameshift
TMEM52BENSG00000165685ENST00000381923p.S123Ic.368G>TSubstitution - Missense
DOCK1ENSG00000150760ENST00000280333p.F282Fc.846T>CSubstitution - coding silent
DOCK1ENSG00000150760ENST00000280333p.S1858Sc.5574G>ASubstitution - coding silent
TCTN3ENSG00000119977ENST00000371217p.C127Cc.381C>TSubstitution - coding silent
PRTFDC1ENSG00000099256ENST00000376376p.L89Lc.267T>CSubstitution - coding silent
FBXO32ENSG00000156804ENST00000517956p.V156Dc.467T>ASubstitution - Missense
C8orf48ENSG00000164743ENST00000297324p.K216Ec.646A>GSubstitution - Missense
CENPLENSG00000120334ENST00000356198p.S33Sc.99G>ASubstitution - coding silent
EXOSC10ENSG00000171824ENST00000544779p.Q89Rc.266A>GSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369351p.K574Ec.1720A>GSubstitution - Missense
ENST00000298953_v70p.L240Fc.718C>TSubstitution - Missense
ENST00000333984p.A96Ac.288A>GSubstitution - coding silent
ITPR2ENSG00000123104ENST00000242737p.S7Nc.20G>ASubstitution - Missense
GUCY1A2ENSG00000152402ENST00000282249p.S680Tc.2038T>ASubstitution - Missense
PMLENSG00000140464ENST00000569477p.A271Tc.811G>ASubstitution - Missense
PAPOLAENSG00000090060ENST00000557320p.A116Vc.347C>TSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.S2244Sc.6732G>ASubstitution - coding silent
SRSF10ENSG00000188529ENST00000374452p.D66Dc.198C>TSubstitution - coding silent
KIF21BENSG00000116852ENST00000422435p.I445Mc.1335C>GSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.?c.7215+3G>AUnknown
EPS15ENSG00000085832ENST00000396122p.A100Gc.299C>GSubstitution - Missense
PTPRUENSG00000060656ENST00000460170p.P600Pc.1800C>ASubstitution - coding silent
LEPRENSG00000116678ENST00000371059p.K879Mc.2636A>TSubstitution - Missense
DGUOKENSG00000114956ENST00000356837p.S235fs*2c.703_704insTInsertion - Frameshift
PAQR3ENSG00000163291ENST00000380645p.T136fs*32c.406_407insAInsertion - Frameshift
C15orf39ENSG00000167173ENST00000567617p.C479fs*26c.1434_1435insCInsertion - Frameshift
CEP78ENSG00000148019ENST00000424347p.A249fs*6c.744_745insTInsertion - Frameshift
NM_138737.1p.E577Vc.1730A>TSubstitution - Missense
KCNN1ENSG00000105642ENST00000222249p.H492Yc.1474C>TSubstitution - Missense
FOXR2ENSG00000189299ENST00000339140p.E137Ec.411G>ASubstitution - coding silent
RAB33BENSG00000172007ENST00000305626p.A90Vc.269C>TSubstitution - Missense
MAP3K19ENSG00000176601ENST00000375845p.E64Ec.192A>GSubstitution - coding silent
CCR3ENSG00000183625ENST00000357422p.V243fs*30c.721_722insTInsertion - Frameshift
FKBP5ENSG00000096060ENST00000536438p.?c.1027-10C>AUnknown
ZBED4ENSG00000100426ENST00000216268p.L258Lc.774C>TSubstitution - coding silent
ZNF35ENSG00000169981ENST00000396056p.K20Kc.60A>GSubstitution - coding silent
BDP1ENSG00000145734ENST00000358731p.N2555fs*6c.7657_7658insAInsertion - Frameshift
IFNA6ENSG00000120235ENST00000380210p.V83Lc.247G>TSubstitution - Missense
TROENSG00000067445ENST00000173898p.V111Ic.331G>ASubstitution - Missense
C9orf169ENSG00000197191ENST00000359069p.S40Sc.120G>ASubstitution - coding silent
FAM46DENSG00000174016ENST00000538312p.S122Sc.366C>TSubstitution - coding silent
PHKA1ENSG00000067177ENST00000373542p.L57Sc.170T>CSubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.G3635Dc.10904G>ASubstitution - Missense
MSH3ENSG00000113318ENST00000265081p.E1124Dc.3372G>TSubstitution - Missense
PCDH11XENSG00000102290ENST00000504220p.A832Vc.2495C>TSubstitution - Missense
ANKRD32ENSG00000133302ENST00000265140p.V708Vc.2124A>GSubstitution - coding silent
PCSK1ENSG00000175426ENST00000311106p.A431Tc.1291G>ASubstitution - Missense
FKTNENSG00000106692ENST00000223528p.Y306Cc.917A>GSubstitution - Missense
CAGE1ENSG00000164304ENST00000338150p.Q43*c.127C>TSubstitution - Nonsense
ACTL7BENSG00000148156ENST00000374667p.I251Ic.753C>TSubstitution - coding silent
CAGE1ENSG00000164304ENST00000502583p.N432fs*2c.1288_1289insAInsertion - Frameshift
MAKENSG00000111837ENST00000313243p.Q240fs*5c.718delCDeletion - Frameshift
FAM83FENSG00000133477ENST00000333407p.V388fs*79c.1155_1156insCInsertion - Frameshift
TEX33ENSG00000185264ENST00000405091p.Q24Rc.71A>GSubstitution - Missense
ENST00000361316p.S1205Pc.3613T>CSubstitution - Missense
ZNF462ENSG00000148143ENST00000457913p.I1675Nc.5024T>ASubstitution - Missense
OR13C9ENSG00000136839ENST00000259362p.L47fs*75c.140_141insTInsertion - Frameshift
SLC31A1ENSG00000136868ENST00000374212p.V164Vc.492A>GSubstitution - coding silent
CYLC2ENSG00000155833ENST00000374798p.D326Gc.977A>GSubstitution - Missense
SMC2ENSG00000136824ENST00000286398p.?c.1255-6C>TUnknown
ZNF462ENSG00000148143ENST00000277225p.P571Sc.1711C>TSubstitution - Missense
CEP78ENSG00000148019ENST00000376597p.A249fs*6c.744_745insTInsertion - Frameshift
CEP78ENSG00000148019ENST00000277082p.A659Pc.1975G>CSubstitution - Missense
SLC8A1ENSG00000183023ENST00000403092p.T428Ic.1283C>TSubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.V608Ec.1823T>ASubstitution - Missense
C17orf104ENSG00000180336ENST00000409122p.L353fs*7c.1056_1057insAInsertion - Frameshift
MPOENSG00000005381ENST00000225275p.A735Tc.2203G>ASubstitution - Missense
ZNF569ENSG00000196437ENST00000316950p.N424Sc.1271A>GSubstitution - Missense
PCDHGA8ENSG00000253767ENST00000398604p.P811Pc.2433G>ASubstitution - coding silent
PCDHGA1ENSG00000204956ENST00000517417p.P810Pc.2430G>ASubstitution - coding silent
SLC6A3ENSG00000142319ENST00000270349p.S376Gc.1126A>GSubstitution - Missense
ARAP3ENSG00000120318ENST00000239440p.G905fs*10c.2714delGDeletion - Frameshift
GRAMD1AENSG00000089351ENST00000317991p.G518Sc.1552G>ASubstitution - Missense
TRIOENSG00000038382ENST00000344204p.?c.3881+3A>GUnknown
IDNKENSG00000148057ENST00000277124p.Q50Rc.149A>GSubstitution - Missense
CYFIP2ENSG00000055163ENST00000377576p.M274Lc.820A>CSubstitution - Missense
TMEM132EENSG00000181291ENST00000321639p.D546Nc.1636G>ASubstitution - Missense
CDHR3ENSG00000128536ENST00000542731p.C744fs*10c.2226delCDeletion - Frameshift
ZFPM2ENSG00000169946ENST00000407775p.K893Ec.2677A>GSubstitution - Missense
ENST00000316490_v65p.V3006Dc.9017T>ASubstitution - Missense
C7orf72ENSG00000164500ENST00000297001p.P72fs*30c.211delCDeletion - Frameshift
NIPAL4ENSG00000172548ENST00000311946p.T371Ic.1112C>TSubstitution - Missense
PLXNB3ENSG00000198753ENST00000538966p.R1144Lc.3431G>TSubstitution - Missense
BCAP31ENSG00000185825ENST00000441714p.R182Mc.545G>TSubstitution - Missense
AMPHENSG00000078053ENST00000356264p.P620Sc.1858C>TSubstitution - Missense
HECW1ENSG00000002746ENST00000395891p.?c.2398+8C>TUnknown
AFF2ENSG00000155966ENST00000370460p.R28fs*22c.75_76insAInsertion - Frameshift
SDK1ENSG00000146555ENST00000404826p.?c.1994+1G>AUnknown
LRRN3ENSG00000173114ENST00000308478p.A672Vc.2015C>TSubstitution - Missense
ANKRD7ENSG00000106013ENST00000357099p.T147Tc.441T>CSubstitution - coding silent
DDX39BENSG00000198563ENST00000396172p.F347Lc.1039T>CSubstitution - Missense
TMEM256-PLSCR3ENSG00000187838ENST00000324822p.R180Cc.538C>TSubstitution - Missense
GSPT2ENSG00000189369ENST00000340438p.A108fs*15c.316_317insGInsertion - Frameshift
NLRP13ENSG00000173572ENST00000342929p.P290Sc.868C>TSubstitution - Missense
ZNF134ENSG00000213762ENST00000396161p.Q104*c.310C>TSubstitution - Nonsense
MRPL19ENSG00000115364ENST00000393909p.P226Hc.677C>ASubstitution - Missense
CDH3ENSG00000062038ENST00000264012p.R815Hc.2444G>ASubstitution - Missense
ENSG00000172901ENST00000357872p.S410Sc.1230C>ASubstitution - coding silent
ZFP90ENSG00000184939ENST00000398253p.R591*c.1771C>TSubstitution - Nonsense
SCN5AENSG00000183873ENST00000413689p.D1741fs*46c.5221delGDeletion - Frameshift
VIPR1ENSG00000114812ENST00000325123p.G377Ec.1130G>ASubstitution - Missense
ENST00000333535_v68p.P1187fs*28c.3560delCDeletion - Frameshift
PDHA2ENSG00000163114ENST00000295266p.G276Gc.828G>ASubstitution - coding silent
CLASP2ENSG00000163539ENST00000539981p.R379Rc.1137C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000423061p.M2569Vc.7705A>GSubstitution - Missense
TARSENSG00000113407ENST00000265112p.A648Sc.1942G>TSubstitution - Missense
MGAT4BENSG00000161013ENST00000337755p.?c.955+1G>AUnknown
RXFP3ENSG00000182631ENST00000330120p.R397fs*>74c.1187_1188insTInsertion - Frameshift
HLTFENSG00000071794ENST00000310053p.L670Pc.2009T>CSubstitution - Missense
SU_SK681p.K312Nc.936G>TSubstitution - Missense
ADAM22ENSG00000008277ENST00000265727p.D364Nc.1090G>ASubstitution - Missense
DKC1ENSG00000130826ENST00000369550p.E484Kc.1450G>ASubstitution - Missense
IL1RAPL1ENSG00000169306ENST00000378993p.A154fs*2c.454_455insAInsertion - Frameshift
AGPAT4ENSG00000026652ENST00000320285p.Y288Hc.862T>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.R8420*c.25258C>TSubstitution - Nonsense
G6PDENSG00000160211ENST00000393562p.N427Nc.1281C>TSubstitution - coding silent
XM_291346.5p.V147Ic.439G>ASubstitution - Missense
CARD11ENSG00000198286ENST00000396946p.G540Rc.1618G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.A3525Vc.10574C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.E497Gc.1490A>GSubstitution - Missense
LTV1ENSG00000135521ENST00000367576p.?c.309+2T>CUnknown
IGF2RENSG00000197081ENST00000356956p.D1317fs*28c.3941_3942insGGInsertion - Frameshift
BRAT1ENSG00000106009ENST00000340611p.T353Ac.1057A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.L1313fs*34c.3936delGDeletion - Frameshift
STK11IPENSG00000144589ENST00000295641p.P755Hc.2264C>ASubstitution - Missense
CUL3ENSG00000036257ENST00000264414p.R642Lc.1925G>TSubstitution - Missense
INPP5DENSG00000168918ENST00000359570p.P128fs*6c.379delCDeletion - Frameshift
COL6A3ENSG00000163359ENST00000392004p.V452Mc.1354G>ASubstitution - Missense
MAGEB18ENSG00000176774ENST00000325250p.L270Mc.808C>ASubstitution - Missense
ACE2ENSG00000130234ENST00000252519p.A386Tc.1156G>ASubstitution - Missense
EPHA4ENSG00000116106ENST00000281821p.?c.1443+3A>GUnknown
PSME4ENSG00000068878ENST00000404125p.A993Ac.2979C>TSubstitution - coding silent
CLIC2ENSG00000155962ENST00000369449p.L36Pc.107T>CSubstitution - Missense
ABCB4ENSG00000005471ENST00000359206p.A294fs*62c.873_874insAInsertion - Frameshift
ENST00000419043p.?c.714+5G>AUnknown
LAT2ENSG00000086730ENST00000398475p.P180Pc.540C>ASubstitution - coding silent
C7orf26ENSG00000146576ENST00000344417p.R139Qc.416G>ASubstitution - Missense
TTC38ENSG00000075234ENST00000381031p.N419Kc.1257C>ASubstitution - Missense
SCUBE1ENSG00000159307ENST00000360835p.C61Cc.183C>TSubstitution - coding silent
COL6A5ENSG00000172752ENST00000265379p.G161Wc.481G>TSubstitution - Missense
SLC4A3ENSG00000114923ENST00000273063p.E886fs*1c.2648_2649insCInsertion - Frameshift
ZNF541ENSG00000118156ENST00000391901p.P19Sc.55C>TSubstitution - Missense
FLYWCH1ENSG00000059122ENST00000416288p.P377Lc.1130C>TSubstitution - Missense
ZNF689ENSG00000156853ENST00000287461p.S274fs*3c.819delCDeletion - Frameshift
ZNF431ENSG00000196705ENST00000311048p.L359Pc.1076T>CSubstitution - Missense
FBRSENSG00000156860ENST00000395073p.A102Ac.306C>ASubstitution - coding silent
TRIM56ENSG00000169871ENST00000306085p.R623fs*18c.1865delCDeletion - Frameshift
ZNF107ENSG00000196247ENST00000395391p.C638Rc.1912T>CSubstitution - Missense
UBR2ENSG00000024048ENST00000372899p.E256fs*9c.761delADeletion - Frameshift
AUTS2ENSG00000158321ENST00000342771p.?c.310-3C>TUnknown
NM_003913p.Y270fs*3c.800_801insAInsertion - Frameshift
XM_374396.2p.V1240Ic.3718G>ASubstitution - Missense
XM_374396.2p.K1337fs*16c.4007_4008insAInsertion - Frameshift
CYTH3ENSG00000008256ENST00000350796p.K399fs?c.1197delADeletion - Frameshift
PHKA1ENSG00000067177ENST00000373542p.I1154fs*7c.3460_3461insAInsertion - Frameshift
UGT2B10ENSG00000109181ENST00000265403p.?c.867+5A>GUnknown
PHKBENSG00000102893ENST00000323584p.P825Pc.2475T>CSubstitution - coding silent
GBE1ENSG00000114480ENST00000429644p.?c.1335+8T>CUnknown
DLX6ENSG00000006377ENST00000007660p.T123Ic.368C>TSubstitution - Missense
AKAP9ENSG00000127914ENST00000356239p.K2021fs*3c.6059delADeletion - Frameshift
CALCRENSG00000004948ENST00000394441p.*475Cc.1425A>TNonstop extension
PARP3ENSG00000041880ENST00000417220p.T51Ic.152C>TSubstitution - Missense
BSNENSG00000164061ENST00000296452p.R546Cc.1636C>TSubstitution - Missense
GNAT1ENSG00000114349ENST00000232461p.F211Fc.633C>TSubstitution - coding silent
PSMB1ENSG00000008018ENST00000262193p.E234Ec.702A>GSubstitution - coding silent
TRIM24ENSG00000122779ENST00000415680p.?c.1428+7G>TUnknown
DNAH1ENSG00000114841ENST00000420323p.D2485Dc.7455C>TSubstitution - coding silent
ENST00000366809p.G1592fs*13c.4770delGDeletion - Frameshift
TTNENSG00000155657ENST00000359218p.K7335Nc.22005G>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.T23174Mc.69521C>TSubstitution - Missense
XKR3ENSG00000172967ENST00000331428p.R249Hc.746G>ASubstitution - Missense
TGM6ENSG00000166948ENST00000202625p.L135Pc.404T>CSubstitution - Missense
ARHGEF15ENSG00000198844ENST00000361926p.P119Hc.356C>ASubstitution - Missense
KIR3DL2ENSG00000240403ENST00000326321p.I171Ic.513C>TSubstitution - coding silent
PYGBENSG00000100994ENST00000216962p.R490fs*26c.1468_1469insCInsertion - Frameshift
DNMT3BENSG00000088305ENST00000328111p.?c.814-4T>CUnknown
USP43ENSG00000154914ENST00000285199p.H661Qc.1983T>GSubstitution - Missense
IL7ENSG00000104432ENST00000263851p.K136Ec.406A>GSubstitution - Missense
MYO5BENSG00000167306ENST00000285039p.?c.5139-1G>TUnknown
SDC1ENSG00000115884ENST00000254351p.G296Gc.888C>TSubstitution - coding silent
RNPEPL1ENSG00000142327ENST00000270357p.A463Dc.1388C>ASubstitution - Missense
AOX1ENSG00000138356ENST00000374700p.N20fs*5c.52_53insAInsertion - Frameshift
CXXC11ENSG00000188011ENST00000343216p.A226fs*12c.674_675insCInsertion - Frameshift
RAPH1ENSG00000173166ENST00000319170p.T292Sc.874A>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.P30118Sc.90352C>TSubstitution - Missense
HADHAENSG00000084754ENST00000380649p.G496Gc.1488C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.S26069Ic.78206G>TSubstitution - Missense
ENST00000356127p.K9231Kc.27693A>GSubstitution - coding silent
DEPDC5ENSG00000100150ENST00000400248p.H401Hc.1203C>TSubstitution - coding silent
ZNF512BENSG00000196700ENST00000369888p.N723Nc.2169C>TSubstitution - coding silent
OSBP2ENSG00000184792ENST00000332585p.I538Tc.1613T>CSubstitution - Missense
ZNF649ENSG00000198093ENST00000354957p.S359Yc.1076C>ASubstitution - Missense
ZBTB11ENSG00000066422ENST00000312938p.I945Tc.2834T>CSubstitution - Missense
HDAC4ENSG00000068024ENST00000345617p.R270Rc.810C>TSubstitution - coding silent
ENST00000353957p.M265Vc.793A>GSubstitution - Missense
SENP7ENSG00000138468ENST00000394095p.T317Sc.949A>TSubstitution - Missense
ALCAMENSG00000170017ENST00000306107p.L574fs*9c.1718_1719insAInsertion - Frameshift
HEATR5BENSG00000008869ENST00000233099p.A808Vc.2423C>TSubstitution - Missense
SLC30A6ENSG00000152683ENST00000282587p.W288fs*3c.858delTDeletion - Frameshift
NLRC4ENSG00000091106ENST00000404025p.D1010Vc.3029A>TSubstitution - Missense
NLRC4ENSG00000091106ENST00000404025p.G932fs*21c.2787_2788insTInsertion - Frameshift
MUC4ENSG00000145113ENST00000463781p.P3456Sc.10366C>TSubstitution - Missense
LEF1ENSG00000138795ENST00000379951p.P256Lc.767C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S1176Sc.3528A>GSubstitution - coding silent
SLC30A3ENSG00000115194ENST00000233535p.?c.96-3C>TUnknown
CCDC121ENSG00000176714ENST00000394775p.P430Sc.1288C>TSubstitution - Missense
ENST00000405167p.V1859Dc.5576T>ASubstitution - Missense
CADENSG00000084774ENST00000264705p.P1891Hc.5672C>ASubstitution - Missense
IDO1ENSG00000131203ENST00000522495p.E14*c.40G>TSubstitution - Nonsense
BCORENSG00000183337ENST00000378444p.T353Tc.1059C>TSubstitution - coding silent
ABCG2ENSG00000118777ENST00000237612p.T214Sc.640A>TSubstitution - Missense
CCSER1ENSG00000184305ENST00000509176p.V234Ic.700G>ASubstitution - Missense
WDFY3ENSG00000163625ENST00000295888p.L1060fs*8c.3172_3173insTInsertion - Frameshift
ENST00000318252p.N163Sc.488A>GSubstitution - Missense
KAT6AENSG00000083168ENST00000265713p.E1733Ec.5199G>ASubstitution - coding silent
UBXN8ENSG00000104691ENST00000265616p.S144Sc.432T>CSubstitution - coding silent
ZNF619ENSG00000177873ENST00000314686p.C389Yc.1166G>ASubstitution - Missense
CLASP2ENSG00000163539ENST00000333778p.?c.3298-2A>GUnknown
TMEM95ENSG00000182896ENST00000330767p.?c.226+7T>AUnknown
TTNENSG00000155657ENST00000342992p.S3559Tc.10675T>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.E1025Vc.3074A>TSubstitution - Missense
STAT4ENSG00000138378ENST00000358470p.V457Ic.1369G>ASubstitution - Missense
FN1ENSG00000115414ENST00000354785p.?c.415+9G>TUnknown
ENO3ENSG00000108515ENST00000323997p.R253Cc.757C>TSubstitution - Missense
PELP1ENSG00000141456ENST00000301396p.P828Pc.2484T>CSubstitution - coding silent
ADAMTS18ENSG00000140873ENST00000282849p.S487Nc.1460G>ASubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.R3199fs*27c.9592delCDeletion - Frameshift
TCEAL6ENSG00000204071ENST00000372773p.D62Yc.184G>TSubstitution - Missense
ZNF18ENSG00000154957ENST00000322748p.E483*c.1447G>TSubstitution - Nonsense
FBN3ENSG00000142449ENST00000270509p.Q2515Rc.7544A>GSubstitution - Missense
LONRF3ENSG00000175556ENST00000371628p.Q618Rc.1853A>GSubstitution - Missense
MBD3L1ENSG00000170948ENST00000305625p.P27Hc.80C>ASubstitution - Missense
ENST00000429478p.P836Sc.2506C>TSubstitution - Missense
CAMSAP3ENSG00000076826ENST00000446248p.P484Sc.1450C>TSubstitution - Missense
ALG13ENSG00000101901ENST00000251943p.W915fs*>41c.2742_2743insCInsertion - Frameshift
FN1ENSG00000115414ENST00000354785p.T1461Ac.4381A>GSubstitution - Missense
ENST00000428290_v65p.G627Dc.1880G>ASubstitution - Missense
C1QTNF1ENSG00000173918ENST00000339142p.V165Ac.494T>CSubstitution - Missense
SHANK1ENSG00000161681ENST00000391813p.A1455Ac.4365C>ASubstitution - coding silent
DNAH9ENSG00000007174ENST00000262442p.F2600Sc.7799T>CSubstitution - Missense
SLC6A16ENSG00000063127ENST00000335875p.V117Mc.349G>ASubstitution - Missense
RTN4RL1ENSG00000185924ENST00000331238p.P53Pc.159C>TSubstitution - coding silent
COL4A5ENSG00000188153ENST00000361603p.P1059Pc.3177T>CSubstitution - coding silent
KIF13BENSG00000197892ENST00000524189p.L884Pc.2651T>CSubstitution - Missense
PAX5ENSG00000196092ENST00000358127p.Y370fs*>22c.1106delCDeletion - Frameshift
CCDC136ENSG00000128596ENST00000297788p.L226Lc.678G>ASubstitution - coding silent
ENST00000397697p.L226Lc.678G>ASubstitution - coding silent
NM_080928.2p.A50Vc.149C>TSubstitution - Missense
DOCK8ENSG00000107099ENST00000432829p.A172Tc.514G>ASubstitution - Missense
APBA1ENSG00000107282ENST00000265381p.R144Hc.431G>ASubstitution - Missense
FEZF1ENSG00000128610ENST00000442488p.A324Tc.970G>ASubstitution - Missense
SIGLEC1ENSG00000088827ENST00000202578p.N1048fs*15c.3136_3137insCInsertion - Frameshift
TSHZ2ENSG00000182463ENST00000371497p.I567Vc.1699A>GSubstitution - Missense
HELZENSG00000198265ENST00000358691p.L1077Lc.3231A>GSubstitution - coding silent
B9D1ENSG00000108641ENST00000261499p.A105Vc.314C>TSubstitution - Missense
MMP16ENSG00000156103ENST00000286614p.K600Ec.1798A>GSubstitution - Missense
ACTR8ENSG00000113812ENST00000335754p.P176Qc.527C>ASubstitution - Missense
SLC26A7ENSG00000147606ENST00000276609p.?c.1218+4C>TUnknown
APPL1ENSG00000157500ENST00000288266p.K191Tc.572A>CSubstitution - Missense
ENST00000318252p.L1898Pc.5693T>CSubstitution - Missense
OGFOD3ENSG00000181396ENST00000329197p.A329Vc.986C>TSubstitution - Missense
DLGAP1ENSG00000170579ENST00000581527p.F914Ic.2740T>ASubstitution - Missense
MRC2ENSG00000011028ENST00000303375p.I949Vc.2845A>GSubstitution - Missense
SMG6ENSG00000070366ENST00000263073p.S687Sc.2061T>CSubstitution - coding silent
PSMD12ENSG00000197170ENST00000356126p.A9Vc.26C>TSubstitution - Missense
CPQENSG00000104324ENST00000220763p.?c.850-1G>AUnknown
ROBO1ENSG00000169855ENST00000495273p.D273Dc.819T>CSubstitution - coding silent
ENAMENSG00000132464ENST00000396073p.G1027Sc.3079G>ASubstitution - Missense
COX18ENSG00000163626ENST00000295890p.R302Hc.905G>ASubstitution - Missense
COL6A2ENSG00000142173ENST00000357838p.S168Sc.504C>TSubstitution - coding silent
PLXDC1ENSG00000161381ENST00000315392p.A367Vc.1100C>TSubstitution - Missense
PTCD3ENSG00000132300ENST00000254630p.?c.1629+5G>AUnknown
ENST00000380102_v68p.A288fs*>88c.859delGDeletion - Frameshift
DSCAMENSG00000171587ENST00000400454p.?c.3563-1G>AUnknown
ENST00000329015_v68p.G152Wc.454G>TSubstitution - Missense
B3GALT5ENSG00000183778ENST00000380618p.V282Ac.845T>CSubstitution - Missense
ZBTB21ENSG00000173276ENST00000398499p.K26Rc.77A>GSubstitution - Missense
FAM212AENSG00000185614ENST00000333323p.S130Sc.390A>CSubstitution - coding silent
STAB1ENSG00000010327ENST00000321725p.L1253Mc.3757C>ASubstitution - Missense
TIAM1ENSG00000156299ENST00000286827p.G376Rc.1126G>ASubstitution - Missense
TLR1ENSG00000174125ENST00000308979p.D362Dc.1086C>TSubstitution - coding silent
ORMDL3ENSG00000172057ENST00000394169p.G149fs*4c.439_440insTInsertion - Frameshift
ADAMTS1ENSG00000154734ENST00000284984p.T508Ac.1522A>GSubstitution - Missense
PAMR1ENSG00000149090ENST00000278360p.K724Nc.2172G>TSubstitution - Missense
OAFENSG00000184232ENST00000328965p.?c.548-3C>TUnknown
NM_005933.1p.L3104Lc.9310T>CSubstitution - coding silent
AMY2BENSG00000240038ENST00000361355p.?c.744+4C>TUnknown
NM_002094.1p.L304Lc.912G>ASubstitution - coding silent
HENMT1ENSG00000162639ENST00000370032p.T107Sc.319A>TSubstitution - Missense
MASTLENSG00000120539ENST00000375946p.S306Sc.918C>TSubstitution - coding silent
PCNXENSG00000100731ENST00000304743p.L693Lc.2079G>ASubstitution - coding silent
ASPMENSG00000066279ENST00000367409p.R2372Gc.7114A>GSubstitution - Missense
ASPMENSG00000066279ENST00000367409p.D1159Dc.3477C>TSubstitution - coding silent
ZMYND11ENSG00000015171ENST00000381584p.E211Gc.632A>GSubstitution - Missense
DCLRE1CENSG00000152457ENST00000378289p.K74Kc.222A>GSubstitution - coding silent
TPH2ENSG00000139287ENST00000333850p.G42Dc.125G>ASubstitution - Missense
ZFC3H1ENSG00000133858ENST00000378743p.S1232Gc.3694A>GSubstitution - Missense
TMEM52ENSG00000178821ENST00000310991p.C79Yc.236G>ASubstitution - Missense
PTPN6ENSG00000111679ENST00000456013p.R7*c.19C>TSubstitution - Nonsense
ENST00000299218p.I256Mc.768A>GSubstitution - Missense
NXPE1ENSG00000095110ENST00000251921p.P262Pc.786C>TSubstitution - coding silent
C1orf127ENSG00000175262ENST00000377004p.E580fs*73c.1738delGDeletion - Frameshift
MASP2ENSG00000009724ENST00000400897p.K247Nc.741G>TSubstitution - Missense
PRTGENSG00000166450ENST00000389286p.T512Ic.1535C>TSubstitution - Missense
DLG2ENSG00000150672ENST00000398309p.Y790*c.2370T>ASubstitution - Nonsense
XM_290898p.?c.622-3A>TUnknown
FAM214AENSG00000047346ENST00000261844p.T261Ic.782C>TSubstitution - Missense
OTUD3ENSG00000169914ENST00000375120p.E300Ec.900G>ASubstitution - coding silent
ENST00000298047_v61p.G569*c.1705G>TSubstitution - Nonsense
HIP1RENSG00000130787ENST00000253083p.T709Tc.2127C>TSubstitution - coding silent
TCL1AENSG00000100721ENST00000554012p.L35Mc.103C>ASubstitution - Missense
PAPOLAENSG00000090060ENST00000216277p.A116Vc.347C>TSubstitution - Missense
ADAMTS17ENSG00000140470ENST00000268070p.T211Tc.633G>ASubstitution - coding silent
EFCAB4BENSG00000130038ENST00000252322p.G112Gc.336A>TSubstitution - coding silent
CAMSAP2ENSG00000118200ENST00000358823p.?c.562-5T>CUnknown
C5orf42ENSG00000197603ENST00000425232p.N1803fs*5c.5408_5409insAInsertion - Frameshift
HERC1ENSG00000103657ENST00000443617p.L206Sc.617T>CSubstitution - Missense
ZFYVE19ENSG00000166140ENST00000355341p.A363Vc.1088C>TSubstitution - Missense
CPSF2ENSG00000165934ENST00000298875p.S713Sc.2139A>TSubstitution - coding silent
TTC7BENSG00000165914ENST00000328459p.G377Cc.1129G>TSubstitution - Missense
DPP8ENSG00000074603ENST00000341861p.W2Rc.4T>CSubstitution - Missense
CATSPERBENSG00000133962ENST00000256343p.?c.616+4G>TUnknown
LPHN2ENSG00000117114ENST00000359929p.V405Ac.1214T>CSubstitution - Missense
SNX7ENSG00000162627ENST00000306121p.R351Ic.1052G>TSubstitution - Missense
ARHGEF7ENSG00000102606ENST00000375741p.K455Kc.1365A>GSubstitution - coding silent
MPHOSPH8ENSG00000196199ENST00000361479p.?c.2174+4A>GUnknown
RYR3ENSG00000198838ENST00000389232p.Q2483*c.7447C>TSubstitution - Nonsense
NUP155ENSG00000113569ENST00000231498p.E894Dc.2682A>CSubstitution - Missense
AGXT2ENSG00000113492ENST00000231420p.C223Cc.669C>TSubstitution - coding silent
GRTP1ENSG00000139835ENST00000375430p.K271Kc.813G>ASubstitution - coding silent
C5orf42ENSG00000197603ENST00000425232p.H3094fs*18c.9272_9273insAInsertion - Frameshift
NUTM1ENSG00000184507ENST00000333756p.A450Vc.1349C>TSubstitution - Missense
EXD1ENSG00000178997ENST00000314992p.Q85Qc.255G>ASubstitution - coding silent
ZFP1ENSG00000184517ENST00000393430p.S222Fc.665C>TSubstitution - Missense
ZNF699ENSG00000196110ENST00000308650p.N401Ic.1202A>TSubstitution - Missense
CNTNAP4ENSG00000152910ENST00000307431p.C721fs*11c.2160_2161insAInsertion - Frameshift
CNTNAP4ENSG00000152910ENST00000307431p.V764Mc.2290G>ASubstitution - Missense
PLD2ENSG00000129219ENST00000263088p.R277Wc.829C>TSubstitution - Missense
PLCG2ENSG00000197943ENST00000359376p.M468Tc.1403T>CSubstitution - Missense
THEMIS2ENSG00000130775ENST00000373921p.R397Wc.1189C>TSubstitution - Missense
ZNF557ENSG00000130544ENST00000252840p.I365Tc.1094T>CSubstitution - Missense
PRTN3ENSG00000196415ENST00000234347p.?c.228-1G>AUnknown
CCDC141ENSG00000163492ENST00000420890p.G1171Rc.3511G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.A436Tc.1306G>ASubstitution - Missense
ANKARENSG00000151687ENST00000520309p.V913Mc.2737G>ASubstitution - Missense
MYT1LENSG00000186487ENST00000399161p.I1143Tc.3428T>CSubstitution - Missense
SNTG1ENSG00000147481ENST00000518864p.?c.363+4A>TUnknown
PYHIN1ENSG00000163564ENST00000368140p.I314Nc.941T>ASubstitution - Missense
E2F7ENSG00000165891ENST00000322886p.C274*c.822T>ASubstitution - Nonsense
CD163ENSG00000177575ENST00000396620p.D293Dc.879C>TSubstitution - coding silent
EFTUD1ENSG00000140598ENST00000268206p.C402Rc.1204T>CSubstitution - Missense
ENST00000368915p.R2536fs*>8c.7604_7605insCInsertion - Frameshift
KRT6BENSG00000185479ENST00000252252p.?c.541-1G>TUnknown
CTBP2ENSG00000175029ENST00000309035p.V98Vc.294G>ASubstitution - coding silent
POLGENSG00000140521ENST00000268124p.L549Lc.1647G>ASubstitution - coding silent
GAB2ENSG00000033327ENST00000361507p.?c.1303-10C>AUnknown
DNAJB13ENSG00000187726ENST00000339764p.?c.173-9C>TUnknown
WHAMMENSG00000156232ENST00000286760p.F30Lc.90C>ASubstitution - Missense
PIK3C2GENSG00000139144ENST00000433979p.D41Ec.123T>ASubstitution - Missense
ABCC9ENSG00000069431ENST00000261200p.K923Nc.2769G>TSubstitution - Missense
PLEKHA5ENSG00000052126ENST00000299275p.A125Ac.375T>CSubstitution - coding silent
SIPA1L2ENSG00000116991ENST00000366630p.Q249Qc.747G>ASubstitution - coding silent
HTR1DENSG00000179546ENST00000374619p.A139Vc.416C>TSubstitution - Missense
NM_018979p.P632Pc.1896T>CSubstitution - coding silent
PHRF1ENSG00000070047ENST00000416188p.?c.894+1G>AUnknown
TTC40ENSG00000171811ENST00000368586p.?c.5574+1G>AUnknown
ZFHX2ENSG00000136367ENST00000419474p.L1610Lc.4828C>TSubstitution - coding silent
EBF3ENSG00000108001ENST00000355311p.A430Ac.1290A>GSubstitution - coding silent
PDE2AENSG00000186642ENST00000444035p.A452Vc.1355C>TSubstitution - Missense
G2E3ENSG00000092140ENST00000206595p.K26Tc.77A>CSubstitution - Missense
DTX4ENSG00000110042ENST00000227451p.Y133Yc.399C>TSubstitution - coding silent
GOT1ENSG00000120053ENST00000370508p.N298Nc.894T>CSubstitution - coding silent
ATE1ENSG00000107669ENST00000224652p.C451Rc.1351T>CSubstitution - Missense
CEP170ENSG00000143702ENST00000366543p.H55Yc.163C>TSubstitution - Missense
OR10A5ENSG00000166363ENST00000299454p.T85fs*26c.249delGDeletion - Frameshift
RBMXL2ENSG00000170748ENST00000306904p.S222Sc.666C>TSubstitution - coding silent
PRDM16ENSG00000142611ENST00000270722p.C1226Yc.3677G>ASubstitution - Missense
PDS5BENSG00000083642ENST00000315596p.?c.3625-9_3651>35Unknown
SLKENSG00000065613ENST00000369755p.E1211Ec.3633A>GSubstitution - coding silent
ANKS1BENSG00000185046ENST00000547776p.R175Gc.523A>GSubstitution - Missense
KIF21AENSG00000139116ENST00000395670p.M943Ic.2829G>ASubstitution - Missense
GSX1ENSG00000169840ENST00000302945p.S146Sc.438C>TSubstitution - coding silent
SENP1ENSG00000079387ENST00000448372p.G410fs*3c.1219_1220insAInsertion - Frameshift
PDCD11ENSG00000148843ENST00000369797p.A1365Dc.4094C>ASubstitution - Missense
NR1H4ENSG00000012504ENST00000551379p.A144Vc.431C>TSubstitution - Missense
CLEC12BENSG00000256660ENST00000338896p.T6Tc.18C>TSubstitution - coding silent
NELL2ENSG00000184613ENST00000437801p.C218Cc.654C>TSubstitution - coding silent
NELL2ENSG00000184613ENST00000429094p.C168Cc.504C>TSubstitution - coding silent
TACC2ENSG00000138162ENST00000453444p.?c.8441+5C>TUnknown
ADSSENSG00000035687ENST00000366535p.N113fs*19c.338_339insAInsertion - Frameshift
ENO4ENSG00000188316ENST00000341276p.K208fs*22c.616_617delAADeletion - Frameshift
FCGR2BENSG00000072694ENST00000358671p.H190Hc.570C>TSubstitution - coding silent
C11orf84ENSG00000168005ENST00000294244p.E23Ec.69G>ASubstitution - coding silent
TJP1ENSG00000104067ENST00000346128p.R1126*c.3376C>TSubstitution - Nonsense
MTMR10ENSG00000166912ENST00000435680p.G673Sc.2017G>ASubstitution - Missense
ENST00000567107_v68p.T157Ac.469A>GSubstitution - Missense
FBLIM1ENSG00000162458ENST00000441801p.P170Pc.510G>ASubstitution - coding silent
PIK3C2AENSG00000011405ENST00000265970p.M545Tc.1634T>CSubstitution - Missense
NBEAENSG00000172915ENST00000310336p.?c.8129-4G>AUnknown
GPR161ENSG00000143147ENST00000367835p.L130Mc.388C>ASubstitution - Missense
VPS13DENSG00000048707ENST00000358136p.S1891Nc.5672G>ASubstitution - Missense
CDAN1ENSG00000140326ENST00000356231p.L1154Lc.3460C>TSubstitution - coding silent
PCDHA6ENSG00000081842ENST00000529310p.R428Wc.1282C>TSubstitution - Missense
NRXN2ENSG00000110076ENST00000377551p.T825Mc.2474C>TSubstitution - Missense
KIAA1279ENSG00000198954ENST00000361983p.Q258*c.772C>TSubstitution - Nonsense
APBB1ENSG00000166313ENST00000299402p.E503Kc.1507G>ASubstitution - Missense
ALDH6A1ENSG00000119711ENST00000553458p.A222Vc.665C>TSubstitution - Missense
SPAG17ENSG00000155761ENST00000336338p.S116Gc.346A>GSubstitution - Missense
ERMAPENSG00000164010ENST00000372514p.T347Ic.1040C>TSubstitution - Missense
LEPRE1ENSG00000117385ENST00000296388p.?c.1224-1G>TUnknown
KIAA1549LENSG00000110427ENST00000265654p.V1078Mc.3232G>ASubstitution - Missense
CASTENSG00000153113ENST00000395813p.E213fs*12c.631-1_631insAUnknown
STRA6ENSG00000137868ENST00000563965p.D136fs*15c.406delGDeletion - Frameshift
SDK2ENSG00000069188ENST00000392650p.Q503fs*115c.1507_1508insCInsertion - Frameshift
OSBPL6ENSG00000079156ENST00000315022p.V89fs*4c.257_258insTInsertion - Frameshift
ATXN2LENSG00000168488ENST00000325215p.Q1002fs*54c.2992delGDeletion - Frameshift
PKD2L2ENSG00000078795ENST00000508883p.Y55Hc.163T>CSubstitution - Missense
MAP3K3ENSG00000198909ENST00000361357p.Y411Hc.1231T>CSubstitution - Missense
TRPV3ENSG00000167723ENST00000301365p.I534Tc.1601T>CSubstitution - Missense
HMHA1ENSG00000180448ENST00000536472p.S491Lc.1472C>TSubstitution - Missense
HDAC4ENSG00000068024ENST00000541256p.R239Rc.717C>TSubstitution - coding silent
NRXN1ENSG00000179915ENST00000402717p.G1043Sc.3127G>ASubstitution - Missense
DEPDC5ENSG00000100150ENST00000536766p.H373Hc.1119C>TSubstitution - coding silent
ZFHX4ENSG00000091656ENST00000050961p.P758Pc.2274G>ASubstitution - coding silent
PLAAENSG00000137055ENST00000397292p.H319Lc.956A>TSubstitution - Missense
MAGEB16ENSG00000189023ENST00000399992p.T221Tc.663C>ASubstitution - coding silent
TENM1ENSG00000009694ENST00000422452p.G813Sc.2437G>ASubstitution - Missense
TNFSF15ENSG00000181634ENST00000374044p.I64Tc.191T>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.E504Gc.1511A>GSubstitution - Missense
TRERF1ENSG00000124496ENST00000541110p.K511Nc.1533G>TSubstitution - Missense
DNAH8ENSG00000124721ENST00000449981p.R845*c.2533A>TSubstitution - Nonsense
MTHFD1LENSG00000120254ENST00000367307p.?c.780+2T>CUnknown
FUT10ENSG00000172728ENST00000335589p.S167Nc.500G>ASubstitution - Missense
CCDC129ENSG00000180347ENST00000451887p.A56Tc.166G>ASubstitution - Missense
RABL6ENSG00000196642ENST00000371671p.?c.366+2T>CUnknown
ENSG00000232866ENST00000377437p.R22Gc.64C>GSubstitution - Missense
WDR45ENSG00000196998ENST00000322995p.Q47Qc.141G>ASubstitution - coding silent
IGSF22ENSG00000179057ENST00000319338p.A614Ac.1842G>ASubstitution - coding silent
KIAA0556ENSG00000047578ENST00000261588p.R1617Cc.4849C>TSubstitution - Missense
MYO3AENSG00000095777ENST00000265944p.N525Kc.1575T>ASubstitution - Missense
TMEM8CENSG00000187616ENST00000339996p.R62Cc.184C>TSubstitution - Missense
SENP5ENSG00000119231ENST00000323460p.H373Yc.1117C>TSubstitution - Missense
OR2T1ENSG00000175143ENST00000366474p.A79Vc.236C>TSubstitution - Missense
CKAP5ENSG00000175216ENST00000529230p.E1603Dc.4809G>TSubstitution - Missense
KLK4ENSG00000167749ENST00000324041p.G215Rc.643G>ASubstitution - Missense
NM_003319p.R11381Hc.34142G>ASubstitution - Missense
MYO15AENSG00000091536ENST00000205890p.A351Tc.1051G>ASubstitution - Missense
BEST2ENSG00000039987ENST00000042931p.R356Wc.1066C>TSubstitution - Missense
IL17RBENSG00000056736ENST00000288167p.K172fs*23c.508delADeletion - Frameshift
INPP4AENSG00000040933ENST00000074304p.A661Tc.1981G>ASubstitution - Missense
FAM135AENSG00000082269ENST00000418814p.N999fs*5c.2989delADeletion - Frameshift
NM_001371.1p.N1473fs*8c.4410_4411insAInsertion - Frameshift
ENST00000381114p.R2154Wc.6460C>TSubstitution - Missense
CPAMD8ENSG00000160111ENST00000291440p.H1052fs*127c.3153delGDeletion - Frameshift
PLAGL2ENSG00000126003ENST00000246229p.W11fs*15c.30delCDeletion - Frameshift
PEG3ENSG00000198300ENST00000423103p.R302Wc.904C>TSubstitution - Missense
OR14J1ENSG00000204695ENST00000377160p.R52Hc.155G>ASubstitution - Missense
DPH5ENSG00000117543ENST00000370109p.?c.531-4A>GUnknown
COL11A1ENSG00000060718ENST00000358392p.G1261Sc.3781G>ASubstitution - Missense
MMABENSG00000139428ENST00000545712p.T205Ic.614C>TSubstitution - Missense
RPL6ENSG00000089009ENST00000202773p.F193Sc.578T>CSubstitution - Missense
DNAJC14ENSG00000135392ENST00000357606p.E481Dc.1443G>TSubstitution - Missense
AKAP11ENSG00000023516ENST00000025301p.T1698Ic.5093C>TSubstitution - Missense
KIAA0226LENSG00000102445ENST00000322896p.S121Nc.362G>ASubstitution - Missense
LRCH1ENSG00000136141ENST00000389798p.T568Sc.1702A>TSubstitution - Missense
CR1LENSG00000197721ENST00000508064p.?c.97+10C>TUnknown
INSRRENSG00000027644ENST00000368195p.G674Sc.2020G>ASubstitution - Missense
OR52I2ENSG00000226288ENST00000312614p.Y282Hc.844T>CSubstitution - Missense
PRSS38ENSG00000185888ENST00000366757p.I147Ic.441C>TSubstitution - coding silent
LDB3ENSG00000122367ENST00000429277p.G229*c.685G>TSubstitution - Nonsense
ZSWIM8ENSG00000214655ENST00000398706p.E1610Ec.4830G>ASubstitution - coding silent
NDST2ENSG00000166507ENST00000429742p.T144Ic.431C>TSubstitution - Missense
PMLENSG00000140464ENST00000435786p.D377Dc.1131C>TSubstitution - coding silent
POLEENSG00000177084ENST00000320574p.R494Wc.1480C>TSubstitution - Missense
DIP2BENSG00000066084ENST00000301180p.H194Yc.580C>TSubstitution - Missense
DAPK3ENSG00000167657ENST00000301264p.R411Hc.1232G>ASubstitution - Missense
SPDYE1ENSG00000136206ENST00000258704p.P95fs*46c.279delCDeletion - Frameshift
CCDC129ENSG00000180347ENST00000319386p.A30Tc.88G>ASubstitution - Missense
ANLNENSG00000011426ENST00000265748p.A766Tc.2296G>ASubstitution - Missense
ATP11CENSG00000101974ENST00000327569p.?c.564+4A>GUnknown
GHRHRENSG00000106128ENST00000326139p.L379Fc.1135C>TSubstitution - Missense
DDX26BENSG00000165359ENST00000370752p.V640Ic.1918G>ASubstitution - Missense
WDR24ENSG00000127580ENST00000248142p.?c.1963+9G>TUnknown
ZNF284ENSG00000186026ENST00000421176p.Y576Yc.1728C>TSubstitution - coding silent
DDX39AENSG00000123136ENST00000242776p.S231Rc.691A>CSubstitution - Missense
GALNT13ENSG00000144278ENST00000392825p.T107Ic.320C>TSubstitution - Missense
CHAF1AENSG00000167670ENST00000301280p.H488Hc.1464T>CSubstitution - coding silent
CENPBENSG00000125817ENST00000379751p.R149fs*238c.445_446insCInsertion - Frameshift
TANC1ENSG00000115183ENST00000263635p.G1602Dc.4805G>ASubstitution - Missense
PBX2ENSG00000204304ENST00000375050p.S41Sc.123C>TSubstitution - coding silent
SLC22A7ENSG00000137204ENST00000372585p.F40Vc.118T>GSubstitution - Missense
PRRT1ENSG00000204314ENST00000211413p.I294Vc.880A>GSubstitution - Missense
TNXBENSG00000168477ENST00000375247p.G3669Gc.11007C>TSubstitution - coding silent
PRKCBENSG00000166501ENST00000303531p.C50*c.150C>ASubstitution - Nonsense
PRKCBENSG00000166501ENST00000303531p.C50*c.150C>ASubstitution - Nonsense
ZNF526ENSG00000167625ENST00000301215p.Q162Hc.486G>TSubstitution - Missense
SLC27A1ENSG00000130304ENST00000252595p.S174Ac.520T>GSubstitution - Missense
DCAF15ENSG00000132017ENST00000254337p.L278fs*8c.832_833insCInsertion - Frameshift
NWD1ENSG00000188039ENST00000524140p.L121Lc.363G>ASubstitution - coding silent
KNG1ENSG00000113889ENST00000287611p.Q246*c.736C>TSubstitution - Nonsense
ABL1ENSG00000097007ENST00000372348p.K527fs*12c.1577delADeletion - Frameshift
USP20ENSG00000136878ENST00000372429p.L386Ic.1156C>ASubstitution - Missense
TTC16ENSG00000167094ENST00000373289p.Q421*c.1261C>TSubstitution - Nonsense
NSD1ENSG00000165671ENST00000439151p.A2427Vc.7280C>TSubstitution - Missense
AHRRENSG00000063438ENST00000316418p.T486Sc.1456A>TSubstitution - Missense
NSD1ENSG00000165671ENST00000439151p.G951*c.2851G>TSubstitution - Nonsense
VARSENSG00000204394ENST00000375663p.V305Mc.913G>ASubstitution - Missense
TRAF3IP3ENSG00000009790ENST00000367024p.R526*c.1576C>TSubstitution - Nonsense
KCNQ3ENSG00000184156ENST00000388996p.A482Tc.1444G>ASubstitution - Missense
ENST00000328281p.R49Mc.146G>TSubstitution - Missense
ZNF572ENSG00000180938ENST00000319286p.E66Ec.198G>ASubstitution - coding silent
GOLGA1ENSG00000136935ENST00000373555p.H316Hc.948C>TSubstitution - coding silent
NM_138995p.?c.2730+1G>AUnknown
KIAA0196ENSG00000164961ENST00000318410p.?c.979-9T>CUnknown
AKNAENSG00000106948ENST00000307564p.T1238Ic.3713C>TSubstitution - Missense
EIF4G1ENSG00000114867ENST00000319274p.R1280Rc.3840G>ASubstitution - coding silent
MFAP3LENSG00000198948ENST00000361618p.K101Ic.302A>TSubstitution - Missense
ENST00000255326p.N301Kc.903T>ASubstitution - Missense
ZDHHC20ENSG00000180776ENST00000320220p.L173Lc.517C>TSubstitution - coding silent
DGKHENSG00000102780ENST00000379274p.L330Lc.990G>ASubstitution - coding silent
SCARB1ENSG00000073060ENST00000540495p.V35Ic.103G>ASubstitution - Missense
CCDC91ENSG00000123106ENST00000306172p.A358Tc.1072G>ASubstitution - Missense
RPUSD4ENSG00000165526ENST00000298317p.H191Yc.571C>TSubstitution - Missense
CYP2C8ENSG00000138115ENST00000539050p.R46Wc.136C>TSubstitution - Missense
ZNF33AENSG00000189180ENST00000432900p.C673Yc.2018G>ASubstitution - Missense
EVI5ENSG00000067208ENST00000543509p.Q541Qc.1623G>ASubstitution - coding silent
PTCHD2ENSG00000204624ENST00000389575p.S437Fc.1310C>TSubstitution - Missense
SNX29ENSG00000048471ENST00000323433p.D13Dc.39C>TSubstitution - coding silent
MYO9AENSG00000066933ENST00000424560p.E12Ec.36A>GSubstitution - coding silent
PAPOLAENSG00000090060ENST00000557320p.L68Pc.203T>CSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.S1768Nc.5303G>ASubstitution - Missense
MED12LENSG00000144893ENST00000309237p.Q48Qc.144G>ASubstitution - coding silent
DEPDC5ENSG00000100150ENST00000400246p.L97Ic.289C>ASubstitution - Missense
ATXN3ENSG00000066427ENST00000429774p.Q298_G299insQQQQQc.862_863ins15Insertion - In frame
ZNF346ENSG00000113761ENST00000503039p.T315fs*>5c.942delADeletion - Frameshift
PPP1R3AENSG00000154415ENST00000284601p.T574fs*16c.1719delCDeletion - Frameshift
PLEKHG5ENSG00000171680ENST00000535355p.R359fs*25c.1075delCDeletion - Frameshift
CCDC65ENSG00000139537ENST00000266984p.F457fs*>41c.1369_1370delTTDeletion - Frameshift
ADD1ENSG00000087274ENST00000398125p.?c.1608+8C>AUnknown
CPXCR1ENSG00000147183ENST00000276127p.G300Wc.898G>TSubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.I595Ic.1785T>CSubstitution - coding silent
TMEM259ENSG00000182087ENST00000356663p.?c.508-5C>TUnknown
VAPAENSG00000101558ENST00000340541p.F287Lc.861C>ASubstitution - Missense
SLC25A4ENSG00000151729ENST00000281456p.?c.599-8G>AUnknown
FAT1ENSG00000083857ENST00000441802p.V4337Vc.13011G>ASubstitution - coding silent
FBXW7ENSG00000109670ENST00000281708p.G491Gc.1473C>TSubstitution - coding silent
ENST00000534231p.G252Gc.756C>TSubstitution - coding silent
FKBP15ENSG00000119321ENST00000238256p.E666fs*37c.1987_1988insAInsertion - Frameshift
TTC29ENSG00000137473ENST00000325106p.N473fs*2c.1411_1412insAInsertion - Frameshift
TTC29ENSG00000137473ENST00000325106p.A274Ac.822G>ASubstitution - coding silent
KCNV1ENSG00000164794ENST00000524391p.A209Tc.625G>ASubstitution - Missense
SMC2ENSG00000136824ENST00000286398p.N323fs*5c.963_964insAInsertion - Frameshift
RREB1ENSG00000124782ENST00000379933p.A604Vc.1811C>TSubstitution - Missense
FIG4ENSG00000112367ENST00000415980p.I113Vc.337A>GSubstitution - Missense
KIAA0408ENSG00000189367ENST00000483725p.E177Kc.529G>ASubstitution - Missense
ANKFY1ENSG00000185722ENST00000574367p.L354fs*39c.1059delTDeletion - Frameshift
NM_001009555.2p.Q374fs*3c.1113_1114insAInsertion - Frameshift
FBXO11ENSG00000138081ENST00000402508p.I630Nc.1889T>ASubstitution - Missense
KIAA0922ENSG00000121210ENST00000409959p.S1353Pc.4057T>CSubstitution - Missense
GRIA2ENSG00000120251ENST00000264426p.R384fs*45c.1147delCDeletion - Frameshift
POLNENSG00000130997ENST00000511885p.C198fs*2c.587_588insTInsertion - Frameshift
UFSP2ENSG00000109775ENST00000264689p.K45Kc.135G>ASubstitution - coding silent
ADAMTS13ENSG00000160323ENST00000371911p.G139Dc.416G>ASubstitution - Missense
MAMDC4ENSG00000177943ENST00000445819p.?c.329-7G>AUnknown
VPS13AENSG00000197969ENST00000376634p.?c.883-2A>GUnknown
AGTPBP1ENSG00000135049ENST00000376083p.?c.436+1G>AUnknown
SPATA31D1ENSG00000214929ENST00000344803p.C1277Rc.3829T>CSubstitution - Missense
MDN1ENSG00000112159ENST00000369393p.K4914fs*208c.14742delADeletion - Frameshift
SNX14ENSG00000135317ENST00000314673p.G98Gc.294T>ASubstitution - coding silent
BCLAF1ENSG00000029363ENST00000531224p.G75*c.223G>TSubstitution - Nonsense
ENST00000573521_v68p.P811Pc.2433G>ASubstitution - coding silent
ZNF790ENSG00000197863ENST00000356725p.H583Hc.1749T>CSubstitution - coding silent
SPRED3ENSG00000188766ENST00000338502p.?c.424-6C>AUnknown
ECT2ENSG00000114346ENST00000540509p.M75Ic.225G>ASubstitution - Missense
FXR1ENSG00000114416ENST00000357559p.N124fs*5c.371_372insAInsertion - Frameshift
PCSK5ENSG00000099139ENST00000376767p.?c.1757-1G>TUnknown
ADAMTSL2ENSG00000197859ENST00000354484p.H950fs*>3c.2848_2849insCInsertion - Frameshift
ZMAT2ENSG00000146007ENST00000274712p.D11Vc.32A>TSubstitution - Missense
ATP2B3ENSG00000067842ENST00000349466p.P1176fs*>46c.3524_3525insCInsertion - Frameshift
OTTHUMT00000129563.1p.R328Qc.983G>ASubstitution - Missense
ENSG00000196987ENST00000357566p.T159Tc.477G>ASubstitution - coding silent
LAMA2ENSG00000196569ENST00000421865p.G1522Gc.4566C>TSubstitution - coding silent
SLFN12LENSG00000205045ENST00000361112p.N466Ic.1397A>TSubstitution - Missense
NT5EENSG00000135318ENST00000257770p.R401Hc.1202G>ASubstitution - Missense
TMEM30AENSG00000112697ENST00000230461p.F252Lc.754T>CSubstitution - Missense
TTKENSG00000112742ENST00000369798p.K696Ec.2086A>GSubstitution - Missense
MED23ENSG00000112282ENST00000354577p.C852Yc.2555G>ASubstitution - Missense
NFAT5ENSG00000102908ENST00000393742p.V229Ac.686T>CSubstitution - Missense
LRP12ENSG00000147650ENST00000276654p.S548Sc.1644G>ASubstitution - coding silent
CAMK2BENSG00000058404ENST00000395749p.T3Ic.8C>TSubstitution - Missense
MCM7ENSG00000166508ENST00000354230p.R391Rc.1173C>TSubstitution - coding silent
KMT2CENSG00000055609ENST00000262189p.E4604delEc.13810_13812delGAGDeletion - In frame
NM_024963.2p.L262Ic.784C>ASubstitution - Missense
PCDHA13ENSG00000239389ENST00000289272p.A331Tc.991G>ASubstitution - Missense
ASIC3ENSG00000213199ENST00000357922p.Q262Hc.786G>TSubstitution - Missense
CTNNA1ENSG00000044115ENST00000302763p.Q490*c.1468C>TSubstitution - Nonsense
CEACAM4ENSG00000105352ENST00000221954p.S5fs*35c.5_6insCInsertion - Frameshift
DDX39BENSG00000198563ENST00000449074p.L11Lc.31T>CSubstitution - coding silent
ENST00000319379p.Q4562Hc.13686A>TSubstitution - Missense
SCN2AENSG00000136531ENST00000375427p.S1605Sc.4815C>TSubstitution - coding silent
STAP1ENSG00000035720ENST00000396225p.W112*c.335G>ASubstitution - Nonsense
BCRENSG00000186716ENST00000305877p.F176Lc.526T>CSubstitution - Missense
ENST00000426507p.L39Lc.117G>ASubstitution - coding silent
RANBP2ENSG00000153201ENST00000283195p.P1505Lc.4514C>TSubstitution - Missense
TTC21AENSG00000168026ENST00000431162p.P920Sc.2758C>TSubstitution - Missense
PLEKHG1ENSG00000120278ENST00000358517p.P446Pc.1338T>GSubstitution - coding silent
ANKRD28ENSG00000206560ENST00000383777p.A149Vc.446C>TSubstitution - Missense
HS3ST1ENSG00000002587ENST00000002596p.S150Sc.450G>ASubstitution - coding silent
GFM1ENSG00000168827ENST00000486715p.K379Nc.1137G>TSubstitution - Missense
MAML1ENSG00000161021ENST00000292599p.P263Sc.787C>TSubstitution - Missense
PRDM9ENSG00000164256ENST00000296682p.R872Mc.2615G>TSubstitution - Missense
PDZD2ENSG00000133401ENST00000282493p.S1419fs*6c.4248delADeletion - Frameshift
HNRNPH1ENSG00000169045ENST00000393432p.S310fs*11c.922-1_922insTUnknown
F8ENSG00000185010ENST00000360256p.G130Rc.388G>ASubstitution - Missense
SEMA3EENSG00000170381ENST00000307792p.P171Hc.512C>ASubstitution - Missense
ENST00000291567p.N397Nc.1191C>TSubstitution - coding silent
CTAG2ENSG00000126890ENST00000369585p.A71Ac.213G>ASubstitution - coding silent
SYAP1ENSG00000169895ENST00000380155p.E113Dc.339A>CSubstitution - Missense
PDE10AENSG00000112541ENST00000366882p.I725Tc.2174T>CSubstitution - Missense
ADGBENSG00000118492ENST00000397944p.S556Sc.1668C>TSubstitution - coding silent
MAP3K4ENSG00000085511ENST00000392142p.V895Vc.2685A>GSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.?c.582-6A>GUnknown
ENST00000310276p.I610Ic.1830T>CSubstitution - coding silent
BCS1LENSG00000074582ENST00000392109p.L151Pc.452T>CSubstitution - Missense
STK11IPENSG00000144589ENST00000295641p.P755Hc.2264C>ASubstitution - Missense
XM_051221.5p.A1210Vc.3629C>TSubstitution - Missense
TMEM198ENSG00000188760ENST00000344458p.A94Tc.280G>ASubstitution - Missense
CROTENSG00000005469ENST00000331536p.F14Lc.40T>CSubstitution - Missense
ZC3H6ENSG00000188177ENST00000409871p.H53Hc.159T>CSubstitution - coding silent
SETD1AENSG00000099381ENST00000262519p.P601fs*60c.1798delCDeletion - Frameshift
TRIM56ENSG00000169871ENST00000306085p.R623fs*18c.1865delCDeletion - Frameshift
ZNF92ENSG00000146757ENST00000328747p.I333Lc.997A>TSubstitution - Missense
ENST00000394167p.R796Mc.2387G>TSubstitution - Missense
CERKENSG00000100422ENST00000216264p.F447Lc.1339T>CSubstitution - Missense
RTN4ENSG00000115310ENST00000337526p.V1019Mc.3055G>ASubstitution - Missense
PIK3R4ENSG00000196455ENST00000356763p.L875Lc.2625A>TSubstitution - coding silent
EFCAB6ENSG00000186976ENST00000262726p.L581Ic.1741C>ASubstitution - Missense
RSAD2ENSG00000134321ENST00000382040p.A37Tc.109G>ASubstitution - Missense
SLC9C1ENSG00000172139ENST00000305815p.S11fs*3c.21_22insTInsertion - Frameshift
NAA50ENSG00000121579ENST00000240922p.N108Sc.323A>GSubstitution - Missense
NM_007027.2p.V1032Ic.3094G>ASubstitution - Missense
NM_006596.3p.?c.1661-8T>CUnknown
WDR52ENSG00000206530ENST00000393845p.E290Dc.870A>TSubstitution - Missense
ZNF629ENSG00000102870ENST00000262525p.G724Gc.2172C>TSubstitution - coding silent
NCKAP5ENSG00000176771ENST00000409261p.T911fs*4c.2730_2731insCInsertion - Frameshift
KIAA0556ENSG00000047578ENST00000261588p.K1430Tc.4289A>CSubstitution - Missense
SLC8A2ENSG00000118160ENST00000236877p.I97Ic.291C>TSubstitution - coding silent
JAK3ENSG00000105639ENST00000458235p.V957Mc.2869G>ASubstitution - Missense
SMARCA2ENSG00000080503ENST00000349721p.V962Vc.2886G>TSubstitution - coding silent
XM_293293.1p.P189Pc.567C>ASubstitution - coding silent
PJA1ENSG00000181191ENST00000374584p.S316Sc.948C>TSubstitution - coding silent
PHKA1ENSG00000067177ENST00000373542p.P719Sc.2155C>TSubstitution - Missense
TMEM59LENSG00000105696ENST00000262817p.V224Ic.670G>ASubstitution - Missense
FBXW12ENSG00000164049ENST00000296438p.D51Vc.152A>TSubstitution - Missense
PIK3R1ENSG00000145675ENST00000320694p.K148fs*32c.439delADeletion - Frameshift
ADCY2ENSG00000078295ENST00000338316p.F153Lc.457T>CSubstitution - Missense
SBF1ENSG00000100241ENST00000380817p.V1171Gc.3512T>GSubstitution - Missense
ZBED4ENSG00000100426ENST00000216268p.A468Sc.1402G>TSubstitution - Missense
NBEAL2ENSG00000160796ENST00000450053p.W2529*c.7587G>ASubstitution - Nonsense
BAI3ENSG00000135298ENST00000370598p.L1015Fc.3043C>TSubstitution - Missense
TYK2ENSG00000105397ENST00000525621p.P839Sc.2515C>TSubstitution - Missense
HACE1ENSG00000085382ENST00000262903p.P864Sc.2590C>TSubstitution - Missense
CHD1ENSG00000153922ENST00000284049p.R1504fs*9c.4509_4510insAInsertion - Frameshift
CHMENSG00000188419ENST00000357749p.S249Fc.746C>TSubstitution - Missense
PCDH11XENSG00000102290ENST00000395337p.A832Vc.2495C>TSubstitution - Missense
SOGA2ENSG00000168502ENST00000359865p.D1130Vc.3389A>TSubstitution - Missense
NM_021998.2p.Y461Cc.1382A>GSubstitution - Missense
TAS2R5ENSG00000127366ENST00000247883p.Y169Hc.505T>CSubstitution - Missense
USP43ENSG00000154914ENST00000285199p.P647Pc.1941G>ASubstitution - coding silent
NM_016626.2p.I357Vc.1069A>GSubstitution - Missense
ANKRD62ENSG00000181626ENST00000314074p.?c.291+4T>AUnknown
MYH10ENSG00000133026ENST00000269243p.?c.3652-10C>TUnknown
EPPK1ENSG00000227184ENST00000525985p.Y947Yc.2841C>TSubstitution - coding silent
GPAA1ENSG00000197858ENST00000355091p.A533Ac.1599G>ASubstitution - coding silent
CYHR1ENSG00000187954ENST00000438911p.V340Mc.1018G>ASubstitution - Missense
TECPR1ENSG00000205356ENST00000379795p.P532Pc.1596G>ASubstitution - coding silent
ENST00000355436_v68p.L488Mc.1462T>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.G5159Dc.15476G>ASubstitution - Missense
CECR2ENSG00000099954ENST00000262608p.A720fs*26c.2152delGDeletion - Frameshift
TTNENSG00000155657ENST00000342992p.Y27587Cc.82760A>GSubstitution - Missense
ENST00000541862p.P343Sc.1027C>TSubstitution - Missense
CECR1ENSG00000093072ENST00000330232p.H86Hc.258T>CSubstitution - coding silent
NM_003319p.T22982Mc.68945C>TSubstitution - Missense
RAD51AP2ENSG00000214842ENST00000399080p.I597Ic.1791T>CSubstitution - coding silent
KIR3DL1ENSG00000167633ENST00000391728p.N369fs*21c.1105_1105+1insAUnknown
ABHD12ENSG00000100997ENST00000376542p.A98Vc.293C>TSubstitution - Missense
CABLES1ENSG00000134508ENST00000420687p.L2Rc.5T>GSubstitution - Missense
NFKBIZENSG00000144802ENST00000326172p.V103fs*29c.302_303insGInsertion - Frameshift
SENP7ENSG00000138468ENST00000394085p.F4fs*19c.3_4insAInsertion - Frameshift
KIF3CENSG00000084731ENST00000264712p.R403Qc.1208G>ASubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.L830Pc.2489T>CSubstitution - Missense
CXXC11ENSG00000188011ENST00000343216p.S468Sc.1404T>CSubstitution - coding silent
KLHL29ENSG00000119771ENST00000288548p.G475Dc.1424G>ASubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.L1469fs*5c.4398_4399insAInsertion - Frameshift
TTNENSG00000155657ENST00000342992p.T24635Sc.73903A>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.C24084*c.72252T>ASubstitution - Nonsense
TTC27ENSG00000018699ENST00000317907p.L9Rc.26T>GSubstitution - Missense
SLC9B1ENSG00000164037ENST00000296422p.F202Sc.605T>CSubstitution - Missense
MCM5ENSG00000100297ENST00000216122p.?c.167+10C>AUnknown
KCNQ2ENSG00000075043ENST00000359125p.R160Wc.478C>TSubstitution - Missense
NMRAL1ENSG00000153406ENST00000283429p.N158Nc.474C>TSubstitution - coding silent
DNAH9ENSG00000007174ENST00000262442p.T876Tc.2628C>ASubstitution - coding silent
NRG1ENSG00000157168ENST00000521670p.G11Wc.31G>TSubstitution - Missense
NM_152632.1p.G669Gc.2007C>TSubstitution - coding silent
FGFR1ENSG00000077782ENST00000335922p.T716Ic.2147C>TSubstitution - Missense
SRPXENSG00000101955ENST00000343800p.G6Gc.18C>TSubstitution - coding silent
SGOL1ENSG00000129810ENST00000263753p.?c.1472+1G>AUnknown
FGFRL1ENSG00000127418ENST00000398484p.S109Nc.326G>ASubstitution - Missense
ENST00000265148.1p.N61fs*4c.177_178insAInsertion - Frameshift
LAMTOR3ENSG00000109270ENST00000499666p.A98Sc.292G>TSubstitution - Missense
CENPEENSG00000138778ENST00000265148p.N1667Kc.5001T>ASubstitution - Missense
ZNF621ENSG00000172888ENST00000339296p.P358Pc.1074C>ASubstitution - coding silent
PPIP5K2ENSG00000145725ENST00000321521p.E349Dc.1047A>TSubstitution - Missense
NM_145686p.W258fs*7c.771_772insAInsertion - Frameshift
SAFBENSG00000160633ENST00000292123p.T85Tc.255A>GSubstitution - coding silent
ENST00000342088p.S257Sc.771G>ASubstitution - coding silent
DVL2ENSG00000004975ENST00000005340p.V466Mc.1396G>ASubstitution - Missense
ENST00000226094p.Q186*c.556C>TSubstitution - Nonsense
XM_497119.1p.Q228Qc.684A>GSubstitution - coding silent
CCNB3ENSG00000147082ENST00000376042p.T500fs*5c.1494delGDeletion - Frameshift
FRAS1ENSG00000138759ENST00000264895p.M3358Vc.10072A>GSubstitution - Missense
TIFAENSG00000145365ENST00000361717p.L74Lc.220C>TSubstitution - coding silent
CDH11ENSG00000140937ENST00000394156p.E144Vc.431A>TSubstitution - Missense
NFATC3ENSG00000072736ENST00000346183p.N608Nc.1824C>TSubstitution - coding silent
CNTN6ENSG00000134115ENST00000446702p.S959Pc.2875T>CSubstitution - Missense
NRN1LENSG00000188038ENST00000339176p.L114Lc.342G>ASubstitution - coding silent
FAM96BENSG00000166595ENST00000422424p.S23Fc.68C>TSubstitution - Missense
CCDC135ENSG00000159625ENST00000360716p.R569Qc.1706G>ASubstitution - Missense
ZIC1ENSG00000152977ENST00000282928p.R315Sc.943C>ASubstitution - Missense
CMTM1ENSG00000089505ENST00000379500p.T165Ic.494C>TSubstitution - Missense
ENST00000543338p.D67Dc.201C>TSubstitution - coding silent
RFX3ENSG00000080298ENST00000382004p.?c.732-7A>GUnknown
RFX3ENSG00000080298ENST00000358730p.?c.732-7A>GUnknown
SPATA31A6ENSG00000185775ENST00000332857p.F49Vc.145T>GSubstitution - Missense
RBM28ENSG00000106344ENST00000223073p.C392Cc.1176C>TSubstitution - coding silent
PLXNA4ENSG00000221866ENST00000321063p.N775Nc.2325C>TSubstitution - coding silent
ACO1ENSG00000122729ENST00000309951p.G763Cc.2287G>TSubstitution - Missense
ENST00000399933_v61p.N964Sc.2891A>GSubstitution - Missense
KIAA2026ENSG00000183354ENST00000399933p.N139Sc.416A>GSubstitution - Missense
ZNFX1ENSG00000124201ENST00000396105p.R377*c.1129C>TSubstitution - Nonsense
POP1ENSG00000104356ENST00000349693p.S371fs*4c.1111_1112insAInsertion - Frameshift
ATP6V1B2ENSG00000147416ENST00000276390p.S501Sc.1503C>TSubstitution - coding silent
NEFMENSG00000104722ENST00000221166p.I861Ic.2583C>TSubstitution - coding silent
DOCK5ENSG00000147459ENST00000276440p.?c.2439+6C>TUnknown
ADAM7ENSG00000069206ENST00000175238p.T725Tc.2175T>CSubstitution - coding silent
SLC26A7ENSG00000147606ENST00000309536p.?c.305-1G>AUnknown
MAGI1ENSG00000151276ENST00000483466p.Q670Rc.2009A>GSubstitution - Missense
GBA2ENSG00000070610ENST00000378094p.G118Dc.353G>ASubstitution - Missense
SMARCA4ENSG00000127616ENST00000358026p.E1364Ac.4091A>CSubstitution - Missense
DTNAENSG00000134769ENST00000269190p.Q500Qc.1500A>GSubstitution - coding silent
NDC80ENSG00000080986ENST00000261597p.?c.670-5C>TUnknown
ZNF490ENSG00000188033ENST00000311437p.E297Vc.890A>TSubstitution - Missense
SGSHENSG00000181523ENST00000326317p.Q255Pc.764A>CSubstitution - Missense
NPLOC4ENSG00000182446ENST00000331134p.Q483*c.1447C>TSubstitution - Nonsense
ENST00000357939p.P121Lc.362C>TSubstitution - Missense
ASXL3ENSG00000141431ENST00000269197p.Q508*c.1522C>TSubstitution - Nonsense
ASXL3ENSG00000141431ENST00000269197p.S1628Gc.4882A>GSubstitution - Missense
SMG6ENSG00000070366ENST00000263073p.G277Ec.830G>ASubstitution - Missense
CLUHENSG00000132361ENST00000435359p.R304fs*102c.910delADeletion - Frameshift
WSCD1ENSG00000179314ENST00000317744p.P302_R303insPc.907_908insCCCInsertion - In frame
EIF2AK3ENSG00000172071ENST00000303236p.K635fs*2c.1904delADeletion - Frameshift
SLC4A4ENSG00000080493ENST00000340595p.P933fs*28c.2796_2797insTInsertion - Frameshift
CIAO1ENSG00000144021ENST00000488633p.T217Ac.649A>GSubstitution - Missense
TRAPPC10ENSG00000160218ENST00000291574p.V420Dc.1259T>ASubstitution - Missense
POLR1AENSG00000068654ENST00000263857p.I919Nc.2756T>ASubstitution - Missense
ENST00000360228_v70p.?c.5625+8A>GUnknown
KLF1ENSG00000105610ENST00000264834p.R350Rc.1050C>ASubstitution - coding silent
UMODL1ENSG00000177398ENST00000408989p.A205Tc.613G>ASubstitution - Missense
SMCHD1ENSG00000101596ENST00000261598p.Q573Rc.1718A>GSubstitution - Missense
ZNF625ENSG00000257591ENST00000439556p.R64Rc.190A>CSubstitution - coding silent
CAMKK1ENSG00000004660ENST00000348335p.P45fs*9c.134delCDeletion - Frameshift
GABPAENSG00000154727ENST00000354828p.N226Dc.676A>GSubstitution - Missense
KRTAP4-4ENSG00000171396ENST00000390661p.Q77Kc.229C>ASubstitution - Missense
RWDD2BENSG00000156253ENST00000493196p.?c.362+5G>AUnknown
USP16ENSG00000156256ENST00000399976p.A39Vc.116C>TSubstitution - Missense
HTTENSG00000197386ENST00000355072p.?c.468+9C>TUnknown
TMPRSS11BENSG00000185873ENST00000332644p.V345Mc.1033G>ASubstitution - Missense
SEPT12ENSG00000140623ENST00000268231p.R182Qc.545G>ASubstitution - Missense
GPR179ENSG00000188888ENST00000342292p.S1122Gc.3364A>GSubstitution - Missense
ADAMTS3ENSG00000156140ENST00000286657p.D229Ec.687T>ASubstitution - Missense
NM_032217.3p.T1683Ic.5048C>TSubstitution - Missense
CYP11B1ENSG00000160882ENST00000292427p.?c.1200+10C>TUnknown
CALCRENSG00000004948ENST00000359558p.*509Cc.1527A>TNonstop extension
AKR1B15ENSG00000227471ENST00000423958p.D126fs*6c.369delCDeletion - Frameshift
KIF13AENSG00000137177ENST00000259711p.E1475fs*7c.4422delADeletion - Frameshift
MST1ENSG00000173531ENST00000449682p.S581Sc.1743C>ASubstitution - coding silent
FAM8A1ENSG00000137414ENST00000259963p.F382fs*20c.1140delTDeletion - Frameshift
HIST1H1TENSG00000187475ENST00000338379p.S87Fc.260C>TSubstitution - Missense
EDEM1ENSG00000134109ENST00000256497p.L231Mc.691C>ASubstitution - Missense
HIST1H1EENSG00000168298ENST00000304218p.G83Sc.247G>ASubstitution - Missense
SLC17A3ENSG00000124564ENST00000397060p.I111Vc.331A>GSubstitution - Missense
WDR27ENSG00000184465ENST00000333572p.L112Lc.334C>TSubstitution - coding silent
TRAIPENSG00000183763ENST00000331456p.?c.409-6C>AUnknown
GPR31ENSG00000120436ENST00000366834p.G191Gc.573C>TSubstitution - coding silent
WDR27ENSG00000184465ENST00000448612p.?c.2101+6C>AUnknown
ASH1LENSG00000116539ENST00000392403p.V297Ac.890T>CSubstitution - Missense
C1orf106ENSG00000163362ENST00000367342p.F652Sc.1955T>CSubstitution - Missense
FOXM1ENSG00000111206ENST00000342628p.P743fs*14c.2228delCDeletion - Frameshift
UNC13CENSG00000137766ENST00000260323p.H411Hc.1233T>CSubstitution - coding silent
NFASCENSG00000163531ENST00000360049p.P560Pc.1680C>TSubstitution - coding silent
PDCD7ENSG00000090470ENST00000204549p.E269Kc.805G>ASubstitution - Missense
SLC35F4ENSG00000151812ENST00000339762p.I237Fc.709A>TSubstitution - Missense
NRXN3ENSG00000021645ENST00000428277p.F89Sc.266T>CSubstitution - Missense
MEF2AENSG00000068305ENST00000453228p.?c.671-9T>CUnknown
ENST00000346108p.?c.677-9T>CUnknown
FANCMENSG00000187790ENST00000267430p.M2010Vc.6028A>GSubstitution - Missense
DDHD1ENSG00000100523ENST00000323669p.A153Vc.458C>TSubstitution - Missense
HFM1ENSG00000162669ENST00000370425p.L86Lc.256C>TSubstitution - coding silent
LHX8ENSG00000162624ENST00000294638p.A160Tc.478G>ASubstitution - Missense
ING1ENSG00000153487ENST00000338450p.G198Gc.594G>ASubstitution - coding silent
F10ENSG00000126218ENST00000375559p.T293Ac.877A>GSubstitution - Missense
LIG4ENSG00000174405ENST00000405925p.D18Yc.52G>TSubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.?c.7425-4G>AUnknown
DNAJC21ENSG00000168724ENST00000382021p.A552Tc.1654G>ASubstitution - Missense
TYRO3ENSG00000092445ENST00000263798p.V637Lc.1909G>TSubstitution - Missense
DISP2ENSG00000140323ENST00000267889p.S1393Gc.4177A>GSubstitution - Missense
FYBENSG00000082074ENST00000512982p.P325fs*43c.965_966insGInsertion - Frameshift
ENST00000446427p.A308Tc.922G>ASubstitution - Missense
UTS2ENSG00000049247ENST00000361696p.P17Hc.50C>ASubstitution - Missense
MYSM1ENSG00000162601ENST00000472487p.I143Fc.427A>TSubstitution - Missense
JAK1ENSG00000162434ENST00000342505p.T901Tc.2703A>GSubstitution - coding silent
DEPDC1ENSG00000024526ENST00000370966p.N159fs*8c.472_47