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CTV-1 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

7920 mutations reported
2791 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
ZNF618ENSG00000157657ENST00000374126p.S750Nc.2249G>ASubstitution - Missense
FAM91A1ENSG00000176853ENST00000334705p.R43Hc.128G>ASubstitution - Missense
CDH23ENSG00000107736ENST00000442677p.R565Hc.1694G>ASubstitution - Missense
WISP2ENSG00000064205ENST00000372865p.P5Pc.15G>ASubstitution - coding silent
ARHGEF2ENSG00000116584ENST00000368315p.C283Sc.847T>ASubstitution - Missense
PLOD1ENSG00000083444ENST00000376369p.L567Lc.1701C>TSubstitution - coding silent
MYO16ENSG00000041515ENST00000251041p.G519Gc.1557C>TSubstitution - coding silent
KSR2ENSG00000171435ENST00000339824p.T175Mc.524C>TSubstitution - Missense
LCKENSG00000182866ENST00000333070p.P477Lc.1430C>TSubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.F342Vc.1024T>GSubstitution - Missense
WDR88ENSG00000166359ENST00000361680p.S157Nc.470G>ASubstitution - Missense
EPS15L1ENSG00000127527ENST00000455140p.P780Pc.2340T>CSubstitution - coding silent
SMC6ENSG00000163029ENST00000381272p.?c.2220+7A>TUnknown
DEPDC5ENSG00000100150ENST00000400246p.L23Lc.67C>TSubstitution - coding silent
HIC1ENSG00000177374ENST00000322941p.R31Kc.92G>ASubstitution - Missense
C3orf20ENSG00000131379ENST00000253697p.S902Sc.2706C>ASubstitution - coding silent
GCDHENSG00000105607ENST00000422947p.N348fs*9c.1035delGDeletion - Frameshift
MAP2K7ENSG00000076984ENST00000545011p.R12fs*80c.31_32insCInsertion - Frameshift
TRIOENSG00000038382ENST00000344135p.D147Dc.441C>TSubstitution - coding silent
CAMTA2ENSG00000108509ENST00000414043p.W114*c.341G>ASubstitution - Nonsense
TRPV3ENSG00000167723ENST00000301365p.T305Tc.915C>TSubstitution - coding silent
SLC6A1ENSG00000157103ENST00000287766p.V337Ic.1009G>ASubstitution - Missense
ABHD16AENSG00000204427ENST00000538874p.Q94Ec.280C>GSubstitution - Missense
ENST00000257665_v70p.D450Dc.1350C>TSubstitution - coding silent
CSMD1ENSG00000183117ENST00000539096p.G1252Dc.3755G>ASubstitution - Missense
ENST00000272666p.D907Ec.2721C>GSubstitution - Missense
CCDC108ENSG00000181378ENST00000341552p.Q1442Qc.4326G>ASubstitution - coding silent
SLC20A1ENSG00000144136ENST00000272542p.L179Lc.535C>TSubstitution - coding silent
COL6A6ENSG00000206384ENST00000358511p.Q1874Ec.5620C>GSubstitution - Missense
SMC1BENSG00000077935ENST00000357450p.Q353Kc.1057C>ASubstitution - Missense
ARHGAP8ENSG00000241484ENST00000389774p.T206Kc.617C>ASubstitution - Missense
PRKD2ENSG00000105287ENST00000291281p.R645fs*18c.1933delCDeletion - Frameshift
STRN4ENSG00000090372ENST00000263280p.L353Fc.1057C>TSubstitution - Missense
ZNF48ENSG00000180035ENST00000320159p.G581Cc.1741G>TSubstitution - Missense
ZNF768ENSG00000169957ENST00000380412p.Q61Hc.183G>TSubstitution - Missense
RASIP1ENSG00000105538ENST00000222145p.A308Sc.922G>TSubstitution - Missense
POM121CENSG00000135213ENST00000453279p.D208Dc.624C>TSubstitution - coding silent
CCDC171ENSG00000164989ENST00000380701p.T463Kc.1388C>ASubstitution - Missense
OGTENSG00000147162ENST00000373719p.R348Rc.1044C>TSubstitution - coding silent
NM_015965.3p.?c.494+9G>AUnknown
STARD8ENSG00000130052ENST00000374599p.R401Rc.1201C>ASubstitution - coding silent
RAVER1ENSG00000161847ENST00000293677p.Y728Yc.2184C>TSubstitution - coding silent
MBLAC2ENSG00000176055ENST00000316610p.Q40Lc.119A>TSubstitution - Missense
SBF1ENSG00000100241ENST00000390679p.S336Cc.1006A>TSubstitution - Missense
ZBED4ENSG00000100426ENST00000216268p.S114Sc.342C>TSubstitution - coding silent
HAUS6ENSG00000147874ENST00000380502p.?c.699+1G>AUnknown
TAF1ENSG00000147133ENST00000373790p.P787Tc.2359C>ASubstitution - Missense
RFX6ENSG00000185002ENST00000332958p.H639Lc.1916A>TSubstitution - Missense
RPS23ENSG00000186468ENST00000296674p.K21Nc.63G>CSubstitution - Missense
MEF2CENSG00000081189ENST00000514028p.?c.965-2A>GUnknown
PANX2ENSG00000073150ENST00000395842p.R172Hc.515G>ASubstitution - Missense
RREB1ENSG00000124782ENST00000379938p.R773Cc.2317C>TSubstitution - Missense
RREB1ENSG00000124782ENST00000379938p.G1105Rc.3313G>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.V2609Vc.7827G>ASubstitution - coding silent
FAM135AENSG00000082269ENST00000418814p.D1082Hc.3244G>CSubstitution - Missense
ZNF451ENSG00000112200ENST00000370708p.K469Tc.1406A>CSubstitution - Missense
STIM2ENSG00000109689ENST00000237364p.K476Kc.1428G>ASubstitution - coding silent
STAT5BENSG00000173757ENST00000293328p.E284Ec.852G>ASubstitution - coding silent
PTGES3L-AARSD1ENSG00000108825ENST00000360221p.A40Ac.120C>ASubstitution - coding silent
RUNDC1ENSG00000198863ENST00000361677p.H577Hc.1731C>TSubstitution - coding silent
PSMD11ENSG00000108671ENST00000261712p.S23Fc.68C>TSubstitution - Missense
OR1A2ENSG00000172150ENST00000381951p.L185Lc.553C>TSubstitution - coding silent
MYBENSG00000118513ENST00000341911p.T678Tc.2034G>ASubstitution - coding silent
FFAR1ENSG00000126266ENST00000246553p.T215Mc.644C>TSubstitution - Missense
KIAA0141ENSG00000081791ENST00000194118p.?c.32-3C>TUnknown
LRFN3ENSG00000126243ENST00000246529p.L543Lc.1627C>TSubstitution - coding silent
ANXA6ENSG00000197043ENST00000354546p.A8Vc.23C>TSubstitution - Missense
TAF6ENSG00000106290ENST00000344095p.D189Dc.567C>TSubstitution - coding silent
ENST00000450194p.G710Dc.2129G>ASubstitution - Missense
AGAP3ENSG00000133612ENST00000473312p.Q59fs*71c.168_169insCInsertion - Frameshift
STAP1ENSG00000035720ENST00000396225p.?c.531-4G>AUnknown
KIAA1671ENSG00000197077ENST00000358431p.R1056Kc.3167G>ASubstitution - Missense
MAP2K2ENSG00000126934ENST00000262948p.S222Cc.665C>GSubstitution - Missense
ENST00000300965p.R212Hc.635G>ASubstitution - Missense
RBBP6ENSG00000122257ENST00000319715p.M211Ic.633G>TSubstitution - Missense
ARHGEF1ENSG00000076928ENST00000337665p.A287Tc.859G>ASubstitution - Missense
NANOS3ENSG00000187556ENST00000339133p.E74Kc.220G>ASubstitution - Missense
NM_021874.2p.L406Lc.1216C>TSubstitution - coding silent
MEOX2ENSG00000106511ENST00000262041p.A159Ac.477G>ASubstitution - coding silent
CD2APENSG00000198087ENST00000359314p.?c.1418-9A>TUnknown
ENST00000316490_v65p.?c.261+7G>AUnknown
GTPBP3ENSG00000130299ENST00000358792p.H166Hc.498C>TSubstitution - coding silent
GSK3AENSG00000105723ENST00000222330p.R230Hc.689G>ASubstitution - Missense
MLST8ENSG00000167965ENST00000301724p.C316Yc.947G>ASubstitution - Missense
DDA1ENSG00000130311ENST00000359866p.?c.85-4G>AUnknown
ST6GALNAC6ENSG00000160408ENST00000373146p.V161Ac.482T>CSubstitution - Missense
TOR2AENSG00000160404ENST00000373284p.V126Ic.376G>ASubstitution - Missense
LRRC1ENSG00000137269ENST00000370888p.G433Dc.1298G>ASubstitution - Missense
ICKENSG00000112144ENST00000350082p.A629Vc.1886C>TSubstitution - Missense
PLXNA4ENSG00000221866ENST00000378539p.R99Hc.296G>ASubstitution - Missense
KANK2ENSG00000197256ENST00000355150p.A577fs*14c.1729delGDeletion - Frameshift
FSCN2ENSG00000186765ENST00000334850p.G415Dc.1244G>ASubstitution - Missense
RAP1GAP2ENSG00000132359ENST00000254695p.E73Ec.219G>ASubstitution - coding silent
C9orf156ENSG00000136932ENST00000455506p.K150fs*5c.449delADeletion - Frameshift
LAPTM4BENSG00000104341ENST00000445593p.S75fs*71c.201_202ins16Insertion - Frameshift
LIMD2ENSG00000136490ENST00000259006p.?c.84+5G>AUnknown
KSR1ENSG00000141068ENST00000319524p.R585Hc.1754G>ASubstitution - Missense
CYB561ENSG00000008283ENST00000392975p.V215Vc.645G>ASubstitution - coding silent
ACEENSG00000159640ENST00000290866p.Q537*c.1609C>TSubstitution - Nonsense
RIPK4ENSG00000183421ENST00000332512p.A454Tc.1360G>ASubstitution - Missense
ANKRD36CENSG00000174501ENST00000456556p.E1521Kc.4561G>ASubstitution - Missense
UTS2RENSG00000181408ENST00000313135p.Y87Yc.261C>TSubstitution - coding silent
ENST00000420871_v68p.K905fs*13c.2715delADeletion - Frameshift
SLC44A2ENSG00000129353ENST00000335757p.A317Vc.950C>TSubstitution - Missense
YIPF2ENSG00000130733ENST00000253031p.R185Wc.553C>TSubstitution - Missense
KRTAP4-12ENSG00000213416ENST00000394014p.C60Yc.179G>ASubstitution - Missense
RARAENSG00000131759ENST00000394081p.P43Pc.129G>ASubstitution - coding silent
CCDC158ENSG00000163749ENST00000388914p.?c.1348-1G>AUnknown
ZNF423ENSG00000102935ENST00000561648p.E1182fs*11c.3546_3547delGADeletion - Frameshift
TCTAENSG00000145022ENST00000273590p.S89Pc.265T>CSubstitution - Missense
RBM5ENSG00000003756ENST00000347869p.L630Lc.1888C>TSubstitution - coding silent
ZC3HAV1ENSG00000105939ENST00000242351p.?c.309-10T>AUnknown
GRIK1ENSG00000171189ENST00000389125p.S889Rc.2665A>CSubstitution - Missense
N4BP2ENSG00000078177ENST00000261435p.V314Ic.940G>ASubstitution - Missense
GUF1ENSG00000151806ENST00000281543p.Q133fs*8c.395_396insAInsertion - Frameshift
EPHB6ENSG00000106123ENST00000392957p.A720Dc.2159C>ASubstitution - Missense
NPTX2ENSG00000106236ENST00000265634p.Y237Hc.709T>CSubstitution - Missense
ENST00000292520p.D832Ec.2496C>ASubstitution - Missense
ERVW-1ENSG00000242950ENST00000493463p.R314Hc.941G>ASubstitution - Missense
ENST00000392600p.T41Ic.122C>TSubstitution - Missense
ENSG00000173213ENST00000308911p.T366Ac.1096A>GSubstitution - Missense
ANKRD62ENSG00000181626ENST00000314074p.R732Cc.2194C>TSubstitution - Missense
SMAD7ENSG00000101665ENST00000262158p.S336Sc.1008C>TSubstitution - coding silent
TRAK2ENSG00000115993ENST00000332624p.R748*c.2242C>TSubstitution - Nonsense
ALS2CR11ENSG00000155754ENST00000439140p.L1699Lc.5097G>ASubstitution - coding silent
ABI3BPENSG00000154175ENST00000284322p.?c.3116-4T>CUnknown
EMILIN1ENSG00000138080ENST00000380320p.L192Lc.576G>TSubstitution - coding silent
PRR14LENSG00000183530ENST00000397493p.S181Sc.543C>TSubstitution - coding silent
TMX4ENSG00000125827ENST00000246024p.G148Dc.443G>ASubstitution - Missense
MYH2ENSG00000125414ENST00000245503p.A338Vc.1013C>TSubstitution - Missense
TCF25ENSG00000141002ENST00000263346p.L412Lc.1236G>ASubstitution - coding silent
ENSG00000268500ENST00000429354p.Q419Ec.1255C>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T2084Tc.6252C>ASubstitution - coding silent
NLRC4ENSG00000091106ENST00000404025p.L158Lc.474G>ASubstitution - coding silent
GPRC5CENSG00000170412ENST00000392627p.Y362Yc.1086C>TSubstitution - coding silent
REV1ENSG00000135945ENST00000258428p.R752Hc.2255G>ASubstitution - Missense
SLC9A3R1ENSG00000109062ENST00000262613p.S340Nc.1019G>ASubstitution - Missense
DMDENSG00000198947ENST00000378677p.H489Rc.1466A>GSubstitution - Missense
NM_152536.2p.E876fs*63c.2622_2623insAInsertion - Frameshift
C2orf50ENSG00000150873ENST00000381585p.A54Ac.162G>ASubstitution - coding silent
SLC22A14ENSG00000144671ENST00000273173p.Y339Yc.1017C>TSubstitution - coding silent
RGPD3ENSG00000153165ENST00000409886p.V896Gc.2687T>GSubstitution - Missense
PGGT1BENSG00000164219ENST00000419445p.C369Yc.1106G>ASubstitution - Missense
NLGN2ENSG00000169992ENST00000302926p.D663Nc.1987G>ASubstitution - Missense
NHSL1ENSG00000135540ENST00000342260p.S306Yc.917C>ASubstitution - Missense
GPR126ENSG00000112414ENST00000367609p.L733Lc.2199A>GSubstitution - coding silent
HIVEP2ENSG00000010818ENST00000012134p.Q1164Hc.3492G>TSubstitution - Missense
GPR97ENSG00000182885ENST00000333493p.G175Gc.525C>GSubstitution - coding silent
GPR171ENSG00000174946ENST00000309180p.V137Ic.409G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.S1857Ic.5570G>TSubstitution - Missense
ABCB5ENSG00000004846ENST00000404938p.L742Wc.2225T>GSubstitution - Missense
FAT4ENSG00000196159ENST00000394329p.Q2025Qc.6075G>ASubstitution - coding silent
B3GNT7ENSG00000156966ENST00000287590p.A272Tc.814G>ASubstitution - Missense
NM_020247p.C189Cc.567C>TSubstitution - coding silent
C10orf10ENSG00000165507ENST00000298295p.Y40Yc.120C>TSubstitution - coding silent
MAP3K12ENSG00000139625ENST00000267079p.?c.2140-4G>AUnknown
TRIM11ENSG00000154370ENST00000366699p.C343Yc.1028G>ASubstitution - Missense
MBD6ENSG00000166987ENST00000355673p.L184fs*84c.544delGDeletion - Frameshift
TBCEENSG00000116957ENST00000543662p.A405Ac.1215G>ASubstitution - coding silent
LYSTENSG00000143669ENST00000389793p.M1311Vc.3931A>GSubstitution - Missense
TPPP2ENSG00000179636ENST00000321760p.V117Mc.349G>ASubstitution - Missense
KRT74ENSG00000170484ENST00000305620p.L187Lc.561G>ASubstitution - coding silent
LRRC16BENSG00000186648ENST00000342740p.L961Lc.2881C>TSubstitution - coding silent
MTA1ENSG00000182979ENST00000331320p.F658Lc.1974C>GSubstitution - Missense
KDM2AENSG00000173120ENST00000529006p.D693Nc.2077G>ASubstitution - Missense
AHNAKENSG00000124942ENST00000378024p.Q2630*c.7888C>TSubstitution - Nonsense
ANKS1BENSG00000185046ENST00000547776p.S1059Sc.3177G>TSubstitution - coding silent
NXF1ENSG00000162231ENST00000294172p.G67Vc.200G>TSubstitution - Missense
RXFP2ENSG00000133105ENST00000298386p.F642fs*2c.1921delTDeletion - Frameshift
KIAA1522ENSG00000162522ENST00000401073p.T258Ic.773C>TSubstitution - Missense
KDM5AENSG00000073614ENST00000399788p.S1501Sc.4503T>GSubstitution - coding silent
KIF26BENSG00000162849ENST00000407071p.?c.6179-4G>AUnknown
SPENENSG00000065526ENST00000375759p.D2266Nc.6796G>ASubstitution - Missense
SETDB1ENSG00000143379ENST00000271640p.Q802*c.2404C>TSubstitution - Nonsense
SETDB1ENSG00000143379ENST00000271640p.L847Lc.2541G>ASubstitution - coding silent
MFN2ENSG00000116688ENST00000235329p.E137Kc.409G>ASubstitution - Missense
KAT5ENSG00000172977ENST00000341318p.?c.179-10A>GUnknown
SART1ENSG00000175467ENST00000312397p.S591*c.1772C>GSubstitution - Nonsense
MUS81ENSG00000172732ENST00000308110p.A506Vc.1517C>TSubstitution - Missense
ATG2AENSG00000110046ENST00000377264p.G1861Gc.5583C>GSubstitution - coding silent
FESENSG00000182511ENST00000328850p.A668Vc.2003C>TSubstitution - Missense
HEATR4ENSG00000187105ENST00000553558p.L526Lc.1578G>ASubstitution - coding silent
PAPLNENSG00000100767ENST00000427855p.P370Sc.1108C>TSubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.Q1450*c.4348C>TSubstitution - Nonsense
CITENSG00000122966ENST00000392521p.R1338Hc.4013G>ASubstitution - Missense
ENST00000530275_v68p.L162Lc.484C>TSubstitution - coding silent
TREHENSG00000118094ENST00000264029p.Y402Yc.1206C>TSubstitution - coding silent
NLRP6ENSG00000174885ENST00000312165p.A522Vc.1565C>TSubstitution - Missense
NAV2ENSG00000166833ENST00000360655p.Q219fs*128c.653delCDeletion - Frameshift
ATP5LENSG00000167283ENST00000300688p.A49Tc.145G>ASubstitution - Missense
UNC45AENSG00000140553ENST00000418476p.S646Sc.1938G>ASubstitution - coding silent
GPR162ENSG00000250510ENST00000311268p.K46Kc.138G>ASubstitution - coding silent
TAS1R2ENSG00000179002ENST00000375371p.V150Mc.448G>ASubstitution - Missense
PLEKHA6ENSG00000143850ENST00000272203p.S1003Sc.3009C>TSubstitution - coding silent
LRRK1ENSG00000154237ENST00000284395p.S1818Gc.5452A>GSubstitution - Missense
RUSC1ENSG00000160753ENST00000368354p.S27Fc.80C>TSubstitution - Missense
GLG1ENSG00000090863ENST00000205061p.T930Tc.2790A>GSubstitution - coding silent
TAL1ENSG00000162367ENST00000371884p.G58fs*117c.171_172delCGDeletion - Frameshift
MAP3K6ENSG00000142733ENST00000374040p.F841fs*40c.2513_2514insCInsertion - Frameshift
MROH2BENSG00000171495ENST00000399564p.?c.3294-10G>TUnknown
CXCL16ENSG00000161921ENST00000293778p.?c.137-8C>TUnknown
CSPP1ENSG00000104218ENST00000262210p.S1087Lc.3260C>TSubstitution - Missense
MSLNENSG00000102854ENST00000382862p.L18fs*40c.52_53insCInsertion - Frameshift
ENST00000446427p.L18fs*40c.52_53insCInsertion - Frameshift
MUC16ENSG00000181143ENST00000380951p.C80Cc.240C>TSubstitution - coding silent
PNKPENSG00000039650ENST00000322344p.?c.1189-10G>AUnknown
ERCC6L2ENSG00000182150ENST00000407474p.K161Kc.483A>GSubstitution - coding silent
RHBDF2ENSG00000129667ENST00000313080p.C556Yc.1667G>ASubstitution - Missense
ACOX1ENSG00000161533ENST00000293217p.H48Yc.142C>TSubstitution - Missense
ACO1ENSG00000122729ENST00000379923p.R694Hc.2081G>ASubstitution - Missense
KLK9ENSG00000213022ENST00000376832p.Y234Yc.702C>TSubstitution - coding silent
NM_016231p.H25Pc.74A>CSubstitution - Missense
ADAMTS9ENSG00000163638ENST00000498707p.A1221Ac.3663C>ASubstitution - coding silent
ZNF395ENSG00000186918ENST00000344423p.Q71Qc.213G>ASubstitution - coding silent
ARHGEF3ENSG00000163947ENST00000338458p.E157*c.469G>TSubstitution - Nonsense
LZTS1ENSG00000061337ENST00000381569p.K27Kc.81G>ASubstitution - coding silent
IMPDH1ENSG00000106348ENST00000338791p.?c.1262-1G>AUnknown
DNAH5ENSG00000039139ENST00000265104p.Q740Qc.2220G>ASubstitution - coding silent
ENPP1ENSG00000197594ENST00000360971p.S785Nc.2354G>ASubstitution - Missense
CTAGE9ENSG00000236761ENST00000314099p.L59fs*27c.176delTDeletion - Frameshift
MATKENSG00000007264ENST00000395045p.G400Rc.1198G>ASubstitution - Missense
TNRC18ENSG00000182095ENST00000328270p.K147Rc.440A>GSubstitution - Missense
FUKENSG00000157353ENST00000288078p.R418Cc.1252C>TSubstitution - Missense
GABRB2ENSG00000145864ENST00000353437p.?c.542-3C>TUnknown
MYO1GENSG00000136286ENST00000258787p.L57Lc.171G>ASubstitution - coding silent
MED15ENSG00000099917ENST00000292733p.M136Ic.408G>ASubstitution - Missense
MAP2K2ENSG00000126934ENST00000262948p.L37Lc.111G>ASubstitution - coding silent
CYP2A13ENSG00000197838ENST00000330436p.N120Nc.360C>TSubstitution - coding silent
BABAM1ENSG00000105393ENST00000359435p.P287fs*>43c.856delGDeletion - Frameshift
IL27RAENSG00000104998ENST00000263379p.A130Pc.388G>CSubstitution - Missense
CEACAM1ENSG00000079385ENST00000161559p.G458Sc.1372G>ASubstitution - Missense
ZNF229ENSG00000167383ENST00000291187p.D207Yc.619G>TSubstitution - Missense
AGERENSG00000204305ENST00000375076p.S283fs*4c.846delCDeletion - Frameshift
TPM4ENSG00000167460ENST00000344824p.?c.640-5C>AUnknown
C19orf67ENSG00000188032ENST00000343945p.I63fs*14c.186delCDeletion - Frameshift
GARNL3ENSG00000136895ENST00000373387p.C588Yc.1763G>ASubstitution - Missense
SLC25A25ENSG00000148339ENST00000373068p.K147Nc.441G>TSubstitution - Missense
SPTAN1ENSG00000197694ENST00000372739p.A288Vc.863C>TSubstitution - Missense
COL22A1ENSG00000169436ENST00000303045p.Q458fs*14c.1372delCDeletion - Frameshift
OR51A7ENSG00000176895ENST00000359350p.L14Rc.41T>GSubstitution - Missense
CLASP1ENSG00000074054ENST00000545861p.A227Tc.679G>ASubstitution - Missense
TMEM52ENSG00000178821ENST00000378602p.V100Vc.300G>TSubstitution - coding silent
LMNAENSG00000160789ENST00000392353p.H293Hc.879C>TSubstitution - coding silent
UBE3BENSG00000151148ENST00000280774p.R296Qc.887G>ASubstitution - Missense
ANKS1BENSG00000185046ENST00000329257p.S1059Sc.3177G>TSubstitution - coding silent
SHFENSG00000138606ENST00000318390p.P91Tc.271C>ASubstitution - Missense
PIK3CDENSG00000171608ENST00000536656p.A766Vc.2297C>TSubstitution - Missense
ARNTLENSG00000133794ENST00000389708p.?c.180-9_180-8insCUnknown
CELF2ENSG00000048740ENST00000354897p.N54Nc.162C>TSubstitution - coding silent
TNK1ENSG00000174292ENST00000570896p.P516fs*80c.1542delCDeletion - Frameshift
SUGP2ENSG00000064607ENST00000452918p.E803Kc.2407G>ASubstitution - Missense
FAM129CENSG00000167483ENST00000595684p.Q196*c.586C>TSubstitution - Nonsense
TCF4ENSG00000196628ENST00000544241p.P155Lc.464C>TSubstitution - Missense
C2orf16ENSG00000221843ENST00000408964p.R1902Hc.5705G>ASubstitution - Missense
SYTL3ENSG00000164674ENST00000297239p.A558Ac.1674C>ASubstitution - coding silent
TIAM2ENSG00000146426ENST00000367174p.A284Tc.850G>ASubstitution - Missense
HAP1ENSG00000173805ENST00000310778p.S28Sc.84G>CSubstitution - coding silent
DNAH17ENSG00000187775ENST00000389840p.G4192*c.12574G>TSubstitution - Nonsense
HDAC6ENSG00000094631ENST00000444343p.R257Hc.770G>ASubstitution - Missense
KIAA0368ENSG00000136813ENST00000338205p.E546Ec.1638G>ASubstitution - coding silent
DMTNENSG00000158856ENST00000358242p.P344Pc.1032C>GSubstitution - coding silent
ACEENSG00000159640ENST00000290866p.D238Dc.714C>TSubstitution - coding silent
JAK3ENSG00000105639ENST00000458235p.H562Hc.1686C>TSubstitution - coding silent
MS4A14ENSG00000166928ENST00000300187p.S342Sc.1026C>ASubstitution - coding silent
ENST00000328585_v65p.L116fs*19c.336delGDeletion - Frameshift
FGF21ENSG00000105550ENST00000222157p.R163Hc.488G>ASubstitution - Missense
PHF2ENSG00000197724ENST00000359246p.K492fs*6c.1468delADeletion - Frameshift
FIBPENSG00000172500ENST00000338369p.C262Cc.786C>TSubstitution - coding silent
GTPBP1ENSG00000100226ENST00000216044p.A118Tc.352G>ASubstitution - Missense
KIF22ENSG00000079616ENST00000160827p.G68Gc.204C>TSubstitution - coding silent
PCDHGA1ENSG00000204956ENST00000378105p.A761Ac.2283G>ASubstitution - coding silent
HECTD3ENSG00000126107ENST00000372172p.R392*c.1174C>TSubstitution - Nonsense
ENST00000319957p.V372Ic.1114G>ASubstitution - Missense
KCNH3ENSG00000135519ENST00000257981p.G64Gc.192C>ASubstitution - coding silent
SLC4A3ENSG00000114923ENST00000273063p.S912fs*22c.2727delCDeletion - Frameshift
IFITM3ENSG00000142089ENST00000399808p.R49Hc.146G>ASubstitution - Missense
CLEC18BENSG00000140839ENST00000339953p.G185fs*50c.552delCDeletion - Frameshift
ATP2A2ENSG00000174437ENST00000539276p.W927fs*19c.2773delCDeletion - Frameshift
NM_016238.1p.L464Lc.1392G>ASubstitution - coding silent
ENST00000326995p.L184Lc.550C>TSubstitution - coding silent
RASSF5ENSG00000136653ENST00000355294p.L246Lc.738C>TSubstitution - coding silent
ENST00000356127p.A29973Vc.89918C>TSubstitution - Missense
NM_003319p.A23478Vc.70433C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.G25332Dc.75995G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.G11605Dc.34814G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.V20864Vc.62592C>TSubstitution - coding silent
EWSR1ENSG00000182944ENST00000414183p.Q262*c.784C>TSubstitution - Nonsense
TATDN2ENSG00000157014ENST00000287652p.N422fs*38c.1259delCDeletion - Frameshift
ZNF646ENSG00000167395ENST00000300850p.H1750Hc.5250C>TSubstitution - coding silent
SPG7ENSG00000197912ENST00000268704p.F378Fc.1134C>TSubstitution - coding silent
MARS2ENSG00000247626ENST00000282276p.A84Ac.252C>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T2207Tc.6621C>TSubstitution - coding silent
ENST00000405167p.T5161Ic.15482C>TSubstitution - Missense
MFI2ENSG00000163975ENST00000296350p.V578Ic.1732G>ASubstitution - Missense
RTEL1ENSG00000258366ENST00000318100p.P82Pc.246G>ASubstitution - coding silent
KIAA0195ENSG00000177728ENST00000314256p.Y656Fc.1967A>TSubstitution - Missense
ZNF606ENSG00000166704ENST00000341164p.C691Yc.2072G>ASubstitution - Missense
PPP2CBENSG00000104695ENST00000221138p.C133Rc.397T>CSubstitution - Missense
SEC31AENSG00000138674ENST00000432794p.P367Lc.1100C>TSubstitution - Missense
CHL1ENSG00000134121ENST00000256509p.A469Ec.1406C>ASubstitution - Missense
ENST00000291011p.G91Rc.271G>CSubstitution - Missense
CMTM8ENSG00000170293ENST00000307526p.?c.321+10C>TUnknown
VILLENSG00000136059ENST00000283713p.G554Gc.1662C>TSubstitution - coding silent
CLASP2ENSG00000163539ENST00000539981p.V573Vc.1719C>TSubstitution - coding silent
ABCA8ENSG00000141338ENST00000269080p.?c.2917-1G>TUnknown
CCRN4LENSG00000151014ENST00000280614p.R295Lc.884G>TSubstitution - Missense
ACTG2ENSG00000163017ENST00000345517p.D212Nc.634G>ASubstitution - Missense
RLTPRENSG00000159753ENST00000334583p.E1098Kc.3292G>ASubstitution - Missense
BOD1L1ENSG00000038219ENST00000040738p.P1978Lc.5933C>TSubstitution - Missense
TGOLN2ENSG00000152291ENST00000377386p.P147Sc.439C>TSubstitution - Missense
C16orf11ENSG00000161992ENST00000409413p.H51Hc.153C>TSubstitution - coding silent
DFNA5ENSG00000105928ENST00000342947p.?c.1257+5G>TUnknown
SYNE1ENSG00000131018ENST00000265368p.S1857Ic.5570G>TSubstitution - Missense
PABPC4LENSG00000254535ENST00000529122p.S287Sc.861C>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000423061p.T2826Kc.8477C>ASubstitution - Missense
FBLN7ENSG00000144152ENST00000331203p.T167Ic.500C>TSubstitution - Missense
ASPRV1ENSG00000244617ENST00000320256p.D130Nc.388G>ASubstitution - Missense
RIBC2ENSG00000128408ENST00000342894p.Q222Qc.666G>ASubstitution - coding silent
NM_004142.1p.Q53fs*5c.153delCDeletion - Frameshift
MAPK3ENSG00000102882ENST00000263025p.Q137Hc.411G>TSubstitution - Missense
QPRTENSG00000103485ENST00000395384p.A45Ec.134C>ASubstitution - Missense
ZNF747ENSG00000169955ENST00000252799p.R67Lc.200G>TSubstitution - Missense
ENST00000539430p.A472Tc.1414G>ASubstitution - Missense
XM_374396.2p.S1122Sc.3366C>TSubstitution - coding silent
CCDC37ENSG00000163885ENST00000352312p.Q505*c.1513C>TSubstitution - Nonsense
MIOXENSG00000100253ENST00000216075p.T32Tc.96G>ASubstitution - coding silent
ARMC6ENSG00000105676ENST00000535612p.P425Pc.1275G>ASubstitution - coding silent
OPHN1ENSG00000079482ENST00000355520p.S231Nc.692G>ASubstitution - Missense
ROS1ENSG00000047936ENST00000368507p.D2107Gc.6320A>GSubstitution - Missense
APOBEC3GENSG00000239713ENST00000407997p.C346Yc.1037G>ASubstitution - Missense
CDH7ENSG00000081138ENST00000323011p.L605Ic.1813C>ASubstitution - Missense
CCNHENSG00000134480ENST00000256897p.A283Gc.848C>GSubstitution - Missense
TRDNENSG00000186439ENST00000398178p.I57Vc.169A>GSubstitution - Missense
EIF3HENSG00000147677ENST00000521861p.R108Hc.323G>ASubstitution - Missense
ROS1ENSG00000047936ENST00000368508p.N1105Sc.3314A>GSubstitution - Missense
TEX14ENSG00000121101ENST00000240361p.E1157Kc.3469G>ASubstitution - Missense
PSMC3IPENSG00000131470ENST00000393795p.?c.598-3C>TUnknown
PTGES3LENSG00000267060ENST00000453594p.A101Ac.303C>ASubstitution - coding silent
MTMR4ENSG00000108389ENST00000323456p.E440Ec.1320G>ASubstitution - coding silent
RAMP2ENSG00000131477ENST00000253796p.C131Yc.392G>ASubstitution - Missense
NFKBIDENSG00000167604ENST00000396901p.R62Cc.184C>TSubstitution - Missense
NFKBIDENSG00000167604ENST00000396901p.Q40Hc.120G>TSubstitution - Missense
NFKBIDENSG00000167604ENST00000352614p.Q192Hc.576G>TSubstitution - Missense
DPF1ENSG00000011332ENST00000355526p.V116Vc.348C>TSubstitution - coding silent
TSC1ENSG00000165699ENST00000298552p.P603fs*26c.1808delCDeletion - Frameshift
TMEM19ENSG00000139291ENST00000549735p.V245fs*3c.732_733insTInsertion - Frameshift
PTPRBENSG00000127329ENST00000334414p.V907Vc.2721C>TSubstitution - coding silent
ZBTB16ENSG00000109906ENST00000335953p.R293Mc.878G>TSubstitution - Missense
CCDC89ENSG00000179071ENST00000316398p.S348Cc.1043C>GSubstitution - Missense
ATP2B4ENSG00000058668ENST00000367218p.E524Kc.1570G>ASubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.R236Qc.707G>ASubstitution - Missense
OR13G1ENSG00000197437ENST00000359688p.P284Pc.852G>ASubstitution - coding silent
CLK2ENSG00000176444ENST00000361168p.R109Hc.326G>ASubstitution - Missense
BICD1ENSG00000151746ENST00000281474p.R338Qc.1013G>ASubstitution - Missense
MTX1ENSG00000173171ENST00000368376p.A344Tc.1030G>ASubstitution - Missense
YY1AP1ENSG00000163374ENST00000295566p.P570Rc.1709C>GSubstitution - Missense
IQSEC3ENSG00000120645ENST00000538872p.A361Ac.1083C>TSubstitution - coding silent
VPS13CENSG00000129003ENST00000261517p.A3074Tc.9220G>ASubstitution - Missense
SLC1A7ENSG00000162383ENST00000371494p.P67Sc.199C>TSubstitution - Missense
PAPOLAENSG00000090060ENST00000216277p.?c.331+8T>CUnknown
KLHL17ENSG00000187961ENST00000338591p.R614Rc.1842C>TSubstitution - coding silent
CCDC88CENSG00000015133ENST00000389857p.R1054*c.3160C>TSubstitution - Nonsense
GSE1ENSG00000131149ENST00000253458p.C630*c.1890C>ASubstitution - Nonsense
CMIPENSG00000153815ENST00000539778p.A636Vc.1907C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.E1902Dc.5706G>CSubstitution - Missense
FCER2ENSG00000104921ENST00000346664p.Q197Hc.591G>TSubstitution - Missense
CERKLENSG00000188452ENST00000410087p.?c.677+4G>TUnknown
PLP1ENSG00000123560ENST00000303958p.G125Dc.374G>ASubstitution - Missense
ENST00000325618p.D100Yc.298G>TSubstitution - Missense
TUSC5ENSG00000184811ENST00000333813p.E67Kc.199G>ASubstitution - Missense
GNA11ENSG00000088256ENST00000078429p.R60Cc.178C>TSubstitution - Missense
SRCENSG00000197122ENST00000445403p.Q222Hc.666G>CSubstitution - Missense
MKLN1ENSG00000128585ENST00000352689p.A3Ac.9T>CSubstitution - coding silent
TSR1ENSG00000167721ENST00000301364p.A70Vc.209C>TSubstitution - Missense
HRENSG00000168453ENST00000381418p.D451Nc.1351G>ASubstitution - Missense
GAAENSG00000171298ENST00000390015p.A289Vc.866C>TSubstitution - Missense
NPM2ENSG00000158806ENST00000397940p.M93Ic.279G>ASubstitution - Missense
CADPSENSG00000163618ENST00000283269p.?c.970-9C>AUnknown
SORBS3ENSG00000120896ENST00000240123p.?c.1955-10C>TUnknown
CADPSENSG00000163618ENST00000283269p.V871Vc.2613C>ASubstitution - coding silent
RNASEH2AENSG00000104889ENST00000221486p.L100Lc.300C>TSubstitution - coding silent
RAB40BENSG00000141542ENST00000571995p.P262Pc.786C>TSubstitution - coding silent
ATG4DENSG00000130734ENST00000309469p.Q150Qc.450G>ASubstitution - coding silent
PDE4AENSG00000065989ENST00000344979p.L166Vc.496C>GSubstitution - Missense
C17orf62ENSG00000178927ENST00000306645p.A154Tc.460G>ASubstitution - Missense
CDKL2ENSG00000138769ENST00000429927p.H120Hc.360C>TSubstitution - coding silent
C4orf40ENSG00000187533ENST00000344526p.I23Vc.67A>GSubstitution - Missense
ITGB2ENSG00000160255ENST00000397852p.A767Vc.2300C>TSubstitution - Missense
IMMTENSG00000132305ENST00000410111p.P29Lc.86C>TSubstitution - Missense
CD8AENSG00000153563ENST00000283635p.R61Rc.183C>TSubstitution - coding silent
USP4ENSG00000114316ENST00000265560p.?c.1883+9C>TUnknown
STAB1ENSG00000010327ENST00000321725p.V787Vc.2361C>ASubstitution - coding silent
DNAH1ENSG00000114841ENST00000420323p.L91Lc.271C>TSubstitution - coding silent
HYAL1ENSG00000114378ENST00000395144p.D341Nc.1021G>ASubstitution - Missense
QARSENSG00000172053ENST00000306125p.C665Yc.1994G>ASubstitution - Missense
SONENSG00000159140ENST00000356577p.R1927Hc.5780G>ASubstitution - Missense
SCRIBENSG00000180900ENST00000356994p.R346Hc.1037G>ASubstitution - Missense
CYP11B1ENSG00000160882ENST00000292427p.L429Lc.1285C>TSubstitution - coding silent
C8orf33ENSG00000182307ENST00000331434p.A2Ec.5C>ASubstitution - Missense
VPS28ENSG00000160948ENST00000377348p.G10Gc.30C>TSubstitution - coding silent
ENSG00000271698ENST00000531225p.Y94Yc.282C>TSubstitution - coding silent
CPSF1ENSG00000071894ENST00000349769p.P1149Tc.3445C>ASubstitution - Missense
AGKENSG00000006530ENST00000355413p.?c.727-6T>AUnknown
MAPKAPK3ENSG00000114738ENST00000446044p.?c.629-3C>TUnknown
PCNTENSG00000160299ENST00000359568p.P2295Pc.6885G>ASubstitution - coding silent
DIP2AENSG00000160305ENST00000427143p.L156Lc.468G>ASubstitution - coding silent
ZCCHC2ENSG00000141664ENST00000269499p.E393Kc.1177G>ASubstitution - Missense
UBOX5ENSG00000185019ENST00000217173p.T43Rc.128C>GSubstitution - Missense
KIF1AENSG00000130294ENST00000320389p.S1493Tc.4477T>ASubstitution - Missense
LPHN3ENSG00000150471ENST00000507625p.T1454Ic.4361C>TSubstitution - Missense
ITIH4ENSG00000055955ENST00000434759p.E167Ec.501G>ASubstitution - coding silent
PKHD1L1ENSG00000205038ENST00000378402p.H4080Hc.12240C>TSubstitution - coding silent
IMPA1ENSG00000133731ENST00000256108p.?c.303-9T>AUnknown
RETENSG00000165731ENST00000355710p.C656Fc.1967G>TSubstitution - Missense
ZNF512BENSG00000196700ENST00000369888p.S213Tc.638G>CSubstitution - Missense
INPPL1ENSG00000165458ENST00000298229p.R1156fs*46c.3460delCDeletion - Frameshift
BNC2ENSG00000173068ENST00000380672p.P606fs*7c.1817delCDeletion - Frameshift
IFIH1ENSG00000115267ENST00000263642p.A589fs*16c.1764delADeletion - Frameshift
ERCC4ENSG00000175595ENST00000311895p.V578Mc.1732G>ASubstitution - Missense
IMPA1ENSG00000133731ENST00000449740p.?c.480-9T>AUnknown
TOR2AENSG00000160404ENST00000373284p.A107Ac.321G>ASubstitution - coding silent
ATXN2ENSG00000204842ENST00000377617p.E824Dc.2472G>TSubstitution - Missense
FAM212BENSG00000197852ENST00000444059p.R137*c.409C>TSubstitution - Nonsense
CAPN8ENSG00000203697ENST00000430824p.?c.388+7C>TUnknown
ITPKBENSG00000143772ENST00000429204p.R442Kc.1325G>ASubstitution - Missense
SLC15A1ENSG00000088386ENST00000376503p.L590Pc.1769T>CSubstitution - Missense
DISP1ENSG00000154309ENST00000284476p.E1432Qc.4294G>CSubstitution - Missense
ITGA5ENSG00000161638ENST00000293379p.?c.3066+6C>TUnknown
ITGA5ENSG00000161638ENST00000293379p.A691Gc.2072C>GSubstitution - Missense
ZC3H10ENSG00000135482ENST00000257940p.R4Wc.10C>TSubstitution - Missense
NPTNENSG00000156642ENST00000345330p.G19Gc.57C>GSubstitution - coding silent
LOXL1ENSG00000129038ENST00000261921p.Q176*c.526C>TSubstitution - Nonsense
ZNF292ENSG00000188994ENST00000369577p.N2538fs*21c.7607delADeletion - Frameshift
CTRCENSG00000162438ENST00000375949p.T58Mc.173C>TSubstitution - Missense
ASB8ENSG00000177981ENST00000317697p.Q265Qc.795G>ASubstitution - coding silent
FAM186BENSG00000135436ENST00000257894p.L791Lc.2371C>TSubstitution - coding silent
ACTA1ENSG00000143632ENST00000366684p.?c.616+5G>AUnknown
DDX25ENSG00000109832ENST00000263576p.V374Mc.1120G>ASubstitution - Missense
NM_013264.2p.V260Mc.778G>ASubstitution - Missense
ROBO3ENSG00000154134ENST00000397801p.N240Nc.720C>TSubstitution - coding silent
ROBO3ENSG00000154134ENST00000397801p.N240Nc.720C>TSubstitution - coding silent
CELA1ENSG00000139610ENST00000293636p.R72Hc.215G>ASubstitution - Missense
GGPS1ENSG00000152904ENST00000282841p.A111Vc.332C>TSubstitution - Missense
ENST00000250479p.Q109Qc.327G>ASubstitution - coding silent
SUFUENSG00000107882ENST00000369902p.?c.182+10G>TUnknown
ENST00000341155p.?c.1981-1G>AUnknown
C11orf48ENSG00000162194ENST00000354588p.S194Wc.581C>GSubstitution - Missense
BAI2ENSG00000121753ENST00000373658p.Q1236Qc.3708G>ASubstitution - coding silent
SPOCD1ENSG00000134668ENST00000360482p.R233Hc.698G>ASubstitution - Missense
IPO7ENSG00000205339ENST00000379719p.S526Nc.1577G>ASubstitution - Missense
ENST00000368089_v71p.P252Pc.756C>TSubstitution - coding silent
NCSTNENSG00000162736ENST00000294785p.L97Lc.289C>TSubstitution - coding silent
KRTAP5-2ENSG00000205867ENST00000412090p.C158Yc.473G>ASubstitution - Missense
MFAP1ENSG00000140259ENST00000267812p.R105*c.313C>TSubstitution - Nonsense
PLA2G4BENSG00000243708ENST00000542534p.P272Pc.816G>ASubstitution - coding silent
MAP4K2ENSG00000168067ENST00000294066p.S227Lc.680C>TSubstitution - Missense
MAP4K2ENSG00000168067ENST00000294066p.S227Lc.680C>TSubstitution - Missense
SLC22A10ENSG00000184999ENST00000332793p.I362Mc.1086A>GSubstitution - Missense
HKDC1ENSG00000156510ENST00000354624p.R188Hc.563G>ASubstitution - Missense
KCNK4ENSG00000182450ENST00000422670p.?c.662-9G>AUnknown
NPAP1ENSG00000185823ENST00000329468p.K329Kc.987A>GSubstitution - coding silent
CACNA1HENSG00000196557ENST00000358590p.V179Vc.537C>TSubstitution - coding silent
EME2ENSG00000197774ENST00000307394p.L287Lc.861G>ASubstitution - coding silent
GRIA4ENSG00000152578ENST00000393127p.R697*c.2089C>TSubstitution - Nonsense
MUC6ENSG00000184956ENST00000421673p.N1004Nc.3012C>TSubstitution - coding silent
ELMOD1ENSG00000110675ENST00000265840p.A104Tc.310G>ASubstitution - Missense
ARHGAP20ENSG00000137727ENST00000260283p.P1075fs*21c.3224delCDeletion - Frameshift
CUBNENSG00000107611ENST00000377833p.S2989Nc.8966G>ASubstitution - Missense
CRAMP1LENSG00000007545ENST00000436138p.R215Hc.644G>ASubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.T1611Ac.4831A>GSubstitution - Missense
ANKRD26ENSG00000107890ENST00000376070p.S162Rc.486T>ASubstitution - Missense
AURKAIP1ENSG00000175756ENST00000378853p.T150Mc.449C>TSubstitution - Missense
SMG7ENSG00000116698ENST00000507469p.K1176Ic.3527A>TSubstitution - Missense
ENST00000317726p.E129Kc.385G>ASubstitution - Missense
BRD9ENSG00000028310ENST00000467963p.?c.267+1G>CUnknown
CDH7ENSG00000081138ENST00000323011p.L605Ic.1813C>ASubstitution - Missense
RAVER1ENSG00000161847ENST00000293677p.L385Lc.1153C>TSubstitution - coding silent
ENST00000394831p.W350*c.1050G>ASubstitution - Nonsense
SVEP1ENSG00000165124ENST00000401783p.S3121Sc.9363C>TSubstitution - coding silent
SVEP1ENSG00000165124ENST00000401783p.P1775Lc.5324C>TSubstitution - Missense
FOXRED2ENSG00000100350ENST00000397223p.A117Vc.350C>TSubstitution - Missense
FOXO3ENSG00000118689ENST00000343882p.M462Ic.1386G>ASubstitution - Missense
NMT1ENSG00000136448ENST00000258960p.?c.596+1G>TUnknown
ENST00000361316p.S860Sc.2580A>GSubstitution - coding silent
NM_133482.1p.D807Nc.2419G>ASubstitution - Missense
GRIA2ENSG00000120251ENST00000296526p.K3fs*16c.5delADeletion - Frameshift
SLIT2ENSG00000145147ENST00000504154p.K603Nc.1809G>TSubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.T849Ic.2546C>TSubstitution - Missense
PCDHGA12ENSG00000253159ENST00000252085p.A713Vc.2138C>TSubstitution - Missense
PCDHGA4ENSG00000262576ENST00000571252p.G650Vc.1949G>TSubstitution - Missense
WDR87ENSG00000171804ENST00000303868p.R2802Qc.8405G>ASubstitution - Missense
PCDHB11ENSG00000197479ENST00000354757p.W31*c.92G>ASubstitution - Nonsense
SLC36A2ENSG00000186335ENST00000335244p.I97Sc.290T>GSubstitution - Missense
REEP2ENSG00000132563ENST00000254901p.N31fs*2c.87delADeletion - Frameshift
HCFC1ENSG00000172534ENST00000310441p.A718Tc.2152G>ASubstitution - Missense
UNC45BENSG00000141161ENST00000394570p.T782Sc.2344A>TSubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.H1337Yc.4009C>TSubstitution - Missense
SGK1ENSG00000118515ENST00000237305p.?c.1039-7T>CUnknown
WDR90ENSG00000161996ENST00000293879p.D19fs*20c.57delCDeletion - Frameshift
ENST00000316490p.H4041Hc.12123C>TSubstitution - coding silent
AXLENSG00000167601ENST00000301178p.G248Dc.743G>ASubstitution - Missense
HNRNPLENSG00000104824ENST00000221419p.V532Mc.1594G>ASubstitution - Missense
DHX16ENSG00000204560ENST00000376442p.A740Tc.2218G>ASubstitution - Missense
GSTK1ENSG00000197448ENST00000479303p.Y18fs*27c.47delCDeletion - Frameshift
ENST00000388903p.N1332Nc.3996C>TSubstitution - coding silent
KIAA1671ENSG00000197077ENST00000358431p.I1058Nc.3173T>ASubstitution - Missense
AEBP1ENSG00000106624ENST00000223357p.A200Ac.600G>ASubstitution - coding silent
ZNF574ENSG00000105732ENST00000359044p.R467Hc.1400G>ASubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.T512Tc.1536T>CSubstitution - coding silent
HLA-DQA1ENSG00000196735ENST00000374949p.G43Sc.127G>ASubstitution - Missense
EPS15L1ENSG00000127527ENST00000248070p.P780Pc.2340T>CSubstitution - coding silent
C16orf59ENSG00000162062ENST00000361837p.P256Sc.766C>TSubstitution - Missense
ENGENSG00000106991ENST00000344849p.?c.1273-4G>AUnknown
ZER1ENSG00000160445ENST00000291900p.R662Cc.1984C>TSubstitution - Missense
DDX60LENSG00000181381ENST00000260184p.A449Tc.1345G>ASubstitution - Missense
FAM153BENSG00000182230ENST00000253490p.P241Lc.722C>TSubstitution - Missense
F12ENSG00000131187ENST00000253496p.G504Cc.1510G>TSubstitution - Missense
F12ENSG00000131187ENST00000253496p.?c.530-7C>TUnknown
NOSTRINENSG00000163072ENST00000317647p.A499Vc.1496C>TSubstitution - Missense
XIRP2ENSG00000163092ENST00000295237p.P3119Pc.9357G>ASubstitution - coding silent
ARHGEF2ENSG00000116584ENST00000361247p.R367Qc.1100G>ASubstitution - Missense
DCST1ENSG00000163357ENST00000368419p.I307Vc.919A>GSubstitution - Missense
PPFIA2ENSG00000139220ENST00000333447p.N1148Sc.3443A>GSubstitution - Missense
ANKS1BENSG00000185046ENST00000332712p.K422Nc.1266G>TSubstitution - Missense
BRICD5ENSG00000182685ENST00000562360p.C114Cc.342C>TSubstitution - coding silent
CAPN3ENSG00000092529ENST00000318023p.C414Yc.1241G>ASubstitution - Missense
MIPOL1ENSG00000151338ENST00000545536p.R278Rc.834T>CSubstitution - coding silent
LAMA5ENSG00000130702ENST00000370677p.K255*c.763A>TSubstitution - Nonsense
ZFP36ENSG00000128016ENST00000597629p.G81fs*12c.234_235insCInsertion - Frameshift
EML2ENSG00000125746ENST00000536630p.G301Dc.902G>ASubstitution - Missense
STAT1ENSG00000115415ENST00000361099p.P538Pc.1614G>ASubstitution - coding silent
CLEC16AENSG00000038532ENST00000409552p.?c.1716+7C>TUnknown
GRM7ENSG00000196277ENST00000357716p.I847Ic.2541C>TSubstitution - coding silent
DHX16ENSG00000204560ENST00000376437p.A259Tc.775G>ASubstitution - Missense
CAMTA2ENSG00000108509ENST00000414043p.C831Yc.2492G>ASubstitution - Missense
TNK1ENSG00000174292ENST00000570896p.A434Ec.1301C>ASubstitution - Missense
CRB2ENSG00000148204ENST00000359999p.P103Lc.308C>TSubstitution - Missense
ZNF423ENSG00000102935ENST00000262383p.P551Lc.1652C>TSubstitution - Missense
RIPK4ENSG00000183421ENST00000352483p.H231Rc.692A>GSubstitution - Missense
NM_007332.1p.G548Rc.1642G>ASubstitution - Missense
KRIT1ENSG00000001631ENST00000394507p.L157Lc.471A>GSubstitution - coding silent
SMOC2ENSG00000112562ENST00000354536p.T266Mc.797C>TSubstitution - Missense
RBM5ENSG00000003756ENST00000347869p.?c.340-4G>AUnknown
STAB1ENSG00000010327ENST00000321725p.Y2365Fc.7094A>TSubstitution - Missense
MST1RENSG00000164078ENST00000296474p.P115Pc.345C>ASubstitution - coding silent
ENST00000361743p.G102fs*19c.305delGDeletion - Frameshift
STARD3ENSG00000131748ENST00000336308p.L441Lc.1321C>TSubstitution - coding silent
TCF4ENSG00000196628ENST00000356073p.P226Lc.677C>TSubstitution - Missense
NM_004260.1p.A1199Vc.3596C>TSubstitution - Missense
ZNF789ENSG00000198556ENST00000331410p.S424Yc.1271C>ASubstitution - Missense
TONSLENSG00000160949ENST00000409379p.L992Lc.2976C>GSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.A19668Vc.59003C>TSubstitution - Missense
ENST00000356127p.V27234Vc.81702C>TSubstitution - coding silent
METTL8ENSG00000123600ENST00000453846p.T91Ic.272C>TSubstitution - Missense
MCM3APENSG00000160294ENST00000397708p.M762Ic.2286G>ASubstitution - Missense
DNMT3BENSG00000088305ENST00000201963p.?c.958-4G>AUnknown
ANKMY1ENSG00000144504ENST00000361678p.E35Kc.103G>ASubstitution - Missense
DNAH7ENSG00000118997ENST00000312428p.Q2606*c.7816C>TSubstitution - Nonsense
CLIP4ENSG00000115295ENST00000320081p.V369Ic.1105G>ASubstitution - Missense
RTEL1ENSG00000258366ENST00000318100p.G201Rc.601G>ASubstitution - Missense
DIDO1ENSG00000101191ENST00000395343p.V388Mc.1162G>ASubstitution - Missense
DIDO1ENSG00000101191ENST00000395343p.E1701Kc.5101G>ASubstitution - Missense
LARGEENSG00000133424ENST00000397394p.A635Ec.1904C>ASubstitution - Missense
SEZ6LENSG00000100095ENST00000248933p.P167Lc.500C>TSubstitution - Missense
DNAJA3ENSG00000103423ENST00000262375p.A160Tc.478G>ASubstitution - Missense
SPATA2LENSG00000158792ENST00000289805p.A219Tc.655G>ASubstitution - Missense
ZSCAN10ENSG00000130182ENST00000252463p.A114Vc.341C>TSubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.M271Vc.811A>GSubstitution - Missense
BCORENSG00000183337ENST00000378444p.Q596*c.1786C>TSubstitution - Nonsense
BCORENSG00000183337ENST00000397354p.Q596*c.1786C>TSubstitution - Nonsense
MFSD8ENSG00000164073ENST00000296468p.?c.864-1G>AUnknown
FAM65AENSG00000039523ENST00000042381p.A782Ac.2346C>ASubstitution - coding silent
C16orf86ENSG00000159761ENST00000403458p.S161Nc.482G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.T2819Kc.8456C>ASubstitution - Missense
EZRENSG00000092820ENST00000367075p.?c.193-6G>AUnknown
ATXN1ENSG00000124788ENST00000244769p.F651fs*40c.1953delTDeletion - Frameshift
TRPC3ENSG00000138741ENST00000379645p.L424Fc.1270C>TSubstitution - Missense
PRSS12ENSG00000164099ENST00000296498p.S837fs*>39c.2509_2510delAGDeletion - Frameshift
UFSP1ENSG00000176125ENST00000388761p.C23Cc.69C>TSubstitution - coding silent
C2orf42ENSG00000115998ENST00000264434p.L494Lc.1480C>TSubstitution - coding silent
ARHGAP25ENSG00000163219ENST00000409202p.S402Tc.1205G>CSubstitution - Missense
SPTBN1ENSG00000115306ENST00000356805p.T2080Ic.6239C>TSubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.A1177Dc.3530C>ASubstitution - Missense
MVPENSG00000013364ENST00000395353p.E725*c.2173G>TSubstitution - Nonsense
STRN4ENSG00000090372ENST00000263280p.E278Ec.834G>ASubstitution - coding silent
ARRDC5ENSG00000205784ENST00000381781p.V188Vc.564C>TSubstitution - coding silent
MMP25ENSG00000008516ENST00000336577p.Q51Qc.153G>ASubstitution - coding silent
HIF3AENSG00000124440ENST00000377670p.T12Mc.35C>TSubstitution - Missense
CYP2W1ENSG00000073067ENST00000308919p.P458Lc.1373C>TSubstitution - Missense
DNAH8ENSG00000124721ENST00000359357p.R3007Ic.9020G>TSubstitution - Missense
LRFN2ENSG00000156564ENST00000338305p.A73Ac.219C>TSubstitution - coding silent
NAP1L2ENSG00000186462ENST00000373517p.I154Ic.462C>TSubstitution - coding silent
ARRDC2ENSG00000105643ENST00000222250p.L135Lc.405G>ASubstitution - coding silent
ARRDC2ENSG00000105643ENST00000222250p.E95Kc.283G>ASubstitution - Missense
HDAC11ENSG00000163517ENST00000295757p.W16*c.48G>ASubstitution - Nonsense
ZGLP1ENSG00000220201ENST00000403903p.Q61*c.181C>TSubstitution - Nonsense
CCRL2ENSG00000121797ENST00000399036p.L260Lc.780G>ASubstitution - coding silent
P4HTMENSG00000178467ENST00000383729p.R136Qc.407G>ASubstitution - Missense
CILP2ENSG00000160161ENST00000291495p.R429Hc.1286G>ASubstitution - Missense
CILP2ENSG00000160161ENST00000291495p.G1078fs*5c.3229_3230insTInsertion - Frameshift
MKNK2ENSG00000099875ENST00000309340p.L104Pc.311T>CSubstitution - Missense
EMC1ENSG00000127463ENST00000477853p.?c.954+7G>AUnknown
ZNF598ENSG00000167962ENST00000431526p.D485Yc.1453G>TSubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.T1611Ac.4831A>GSubstitution - Missense
MYH11ENSG00000133392ENST00000396324p.A2Ac.6G>ASubstitution - coding silent
SYNGR3ENSG00000127561ENST00000248121p.A189fs*>42c.561_562insGInsertion - Frameshift
CEP350ENSG00000135837ENST00000367607p.R1634Hc.4901G>ASubstitution - Missense
SIDT2ENSG00000149577ENST00000278951p.R840*c.2518C>TSubstitution - Nonsense
CTSEENSG00000196188ENST00000358184p.G98Sc.292G>ASubstitution - Missense
CYP19A1ENSG00000137869ENST00000396402p.?c.743+4A>GUnknown
UNC13CENSG00000137766ENST00000260323p.K1478fs*3c.4430delADeletion - Frameshift
PIDDENSG00000177595ENST00000347755p.S527fs*90c.1578delCDeletion - Frameshift
PPP1R15BENSG00000158615ENST00000367188p.A573Tc.1717G>ASubstitution - Missense
OGFOD2ENSG00000111325ENST00000228922p.L60Pc.179T>CSubstitution - Missense
OR2L5ENSG00000197454ENST00000355281p.R226Rc.678C>TSubstitution - coding silent
ILF2ENSG00000143621ENST00000361891p.F211Lc.631T>CSubstitution - Missense
RORAENSG00000069667ENST00000309157p.C436Yc.1307G>ASubstitution - Missense
CATSPERBENSG00000133962ENST00000256343p.I231Ic.693C>ASubstitution - coding silent
SPTBENSG00000070182ENST00000389722p.A1397Ac.4191C>TSubstitution - coding silent
FAM177A1ENSG00000151327ENST00000280987p.E66Ec.198A>GSubstitution - coding silent
EGFLAMENSG00000164318ENST00000322350p.?c.546-1G>AUnknown
PLEKHG3ENSG00000126822ENST00000247226p.A510Vc.1529C>TSubstitution - Missense
CLSTN1ENSG00000171603ENST00000377298p.V868Ic.2602G>ASubstitution - Missense
TLDC1ENSG00000140950ENST00000343629p.V195Vc.585G>ASubstitution - coding silent
ISM1ENSG00000101230ENST00000262487p.E298Gc.893A>GSubstitution - Missense
HOXB3ENSG00000120093ENST00000311626p.T345Nc.1034C>ASubstitution - Missense
B4GALNT2ENSG00000167080ENST00000300404p.L322Lc.964C>TSubstitution - coding silent
SESN2ENSG00000130766ENST00000253063p.S382Nc.1145G>ASubstitution - Missense
LEPRENSG00000116678ENST00000371060p.S343Rc.1029T>ASubstitution - Missense
STAT4ENSG00000138378ENST00000358470p.Y528Yc.1584C>TSubstitution - coding silent
TTNENSG00000155657ENST00000360870p.G1345Gc.4035C>TSubstitution - coding silent
PTBP1ENSG00000011304ENST00000356948p.G422Gc.1266G>ASubstitution - coding silent
LRRC8EENSG00000171017ENST00000306708p.L560Lc.1680G>ASubstitution - coding silent
ENST00000300671p.?c.5888+4C>TUnknown
ENST00000375325p.D38Nc.112G>ASubstitution - Missense
H2BFWTENSG00000123569ENST00000217926p.R126Gc.376C>GSubstitution - Missense
CDC14BENSG00000081377ENST00000375242p.A269Tc.805G>ASubstitution - Missense
CDC14BENSG00000081377ENST00000375240p.A306Tc.916G>ASubstitution - Missense
ACOX1ENSG00000161533ENST00000293217p.T473Tc.1419C>TSubstitution - coding silent
UBE2OENSG00000175931ENST00000319380p.R1118Wc.3352C>TSubstitution - Missense
FOXJ1ENSG00000129654ENST00000322957p.A77Tc.229G>ASubstitution - Missense
TP53INP2ENSG00000078804ENST00000374810p.S6Sc.18C>TSubstitution - coding silent
KLK12ENSG00000186474ENST00000250351p.C133Yc.398G>ASubstitution - Missense
ENST00000221482p.A897Vc.2690C>TSubstitution - Missense
PRR12ENSG00000126464ENST00000418929p.L690Lc.2070G>ASubstitution - coding silent
USP36ENSG00000055483ENST00000312010p.F755fs*142c.2262delCDeletion - Frameshift
PRKCDENSG00000163932ENST00000394729p.A8Tc.22G>ASubstitution - Missense
HRENSG00000168453ENST00000381418p.S374fs*6c.1119delCDeletion - Frameshift
ARHGEF3ENSG00000163947ENST00000296315p.E125*c.373G>TSubstitution - Nonsense
ADAM28ENSG00000042980ENST00000265769p.I678Vc.2032A>GSubstitution - Missense
TNPO3ENSG00000064419ENST00000265388p.A914Vc.2741C>TSubstitution - Missense
FLNCENSG00000128591ENST00000325888p.R1627Hc.4880G>ASubstitution - Missense
EXOSC3ENSG00000107371ENST00000327304p.R51Qc.152G>ASubstitution - Missense
MAST1ENSG00000105613ENST00000251472p.Y564*c.1692C>ASubstitution - Nonsense
ASXL3ENSG00000141431ENST00000269197p.Q638*c.1912C>TSubstitution - Nonsense
KIAA1429ENSG00000164944ENST00000297591p.E21Gc.62A>GSubstitution - Missense
XM_043272.9p.P1056Lc.3167C>TSubstitution - Missense
DHRS13ENSG00000167536ENST00000378895p.L154Mc.460C>ASubstitution - Missense
NLKENSG00000087095ENST00000407008p.H37Pc.110A>CSubstitution - Missense
TANC2ENSG00000170921ENST00000389520p.P59Lc.176C>TSubstitution - Missense
ENST00000360228_v70p.G850Sc.2548G>ASubstitution - Missense
ENST00000360228_v70p.?c.5249+8G>CUnknown
SFTPBENSG00000168878ENST00000393822p.P294Pc.882G>ASubstitution - coding silent
BEST2ENSG00000039987ENST00000042931p.L457Lc.1371G>ASubstitution - coding silent
PPEF2ENSG00000156194ENST00000286719p.V176Lc.526G>CSubstitution - Missense
ACSL1ENSG00000151726ENST00000281455p.T46Mc.137C>TSubstitution - Missense
MARCKSENSG00000155130ENST00000368635p.P327fs*>6c.974delCDeletion - Frameshift
PHAXENSG00000164902ENST00000297540p.M185fs*23c.547delADeletion - Frameshift
DHX36ENSG00000174953ENST00000496811p.M154fs*27c.460delADeletion - Frameshift
GPATCH2LENSG00000089916ENST00000312858p.R316Qc.947G>ASubstitution - Missense
NWD1ENSG00000188039ENST00000524140p.L337fs*14c.1004delCDeletion - Frameshift
SZT2ENSG00000198198ENST00000562955p.T2117Mc.6350C>TSubstitution - Missense
VPS13AENSG00000197969ENST00000357409p.K372fs*2c.1108delADeletion - Frameshift
DNAH9ENSG00000007174ENST00000262442p.L4030Mc.12088C>ASubstitution - Missense
PITRM1ENSG00000107959ENST00000380989p.F443Fc.1329T>CSubstitution - coding silent
KCNC2ENSG00000166006ENST00000341669p.A196Vc.587C>TSubstitution - Missense
RASAL1ENSG00000111344ENST00000261729p.R537Cc.1609C>TSubstitution - Missense
SIN3AENSG00000169375ENST00000394947p.A991Tc.2971G>ASubstitution - Missense
MAP3K12ENSG00000139625ENST00000547035p.?c.2239-4G>AUnknown
C12orf10ENSG00000139637ENST00000267103p.H141Hc.423C>TSubstitution - coding silent
SP1ENSG00000185591ENST00000327443p.L469Lc.1407G>ASubstitution - coding silent
CR1ENSG00000203710ENST00000400960p.D1740Nc.5218G>ASubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.S4513Lc.13538C>TSubstitution - Missense
POLEENSG00000177084ENST00000320574p.C1076Cc.3228C>TSubstitution - coding silent
NUP133ENSG00000069248ENST00000261396p.G469Ac.1406G>CSubstitution - Missense
MYO1AENSG00000166866ENST00000300119p.A931Vc.2792C>TSubstitution - Missense
INHBCENSG00000175189ENST00000309668p.A18Vc.53C>TSubstitution - Missense
NACAENSG00000196531ENST00000454682p.P1029Pc.3087C>ASubstitution - coding silent
NACAENSG00000196531ENST00000454682p.P1005Pc.3015C>ASubstitution - coding silent
SIGIRRENSG00000185187ENST00000397632p.R359Qc.1076G>ASubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.C1819Yc.5456G>ASubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.V2356Mc.7066G>ASubstitution - Missense
KIAA1199ENSG00000103888ENST00000356249p.G1173Gc.3519C>TSubstitution - coding silent
PRPHENSG00000135406ENST00000257860p.G357Sc.1069G>ASubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.?c.674-4G>AUnknown
RIN1ENSG00000174791ENST00000424433p.Q562Hc.1686G>TSubstitution - Missense
C14orf180ENSG00000184601ENST00000557649p.P74Pc.222C>TSubstitution - coding silent
MDP1ENSG00000213920ENST00000288087p.D130Dc.390C>TSubstitution - coding silent
MYH7ENSG00000092054ENST00000355349p.I462Ic.1386C>TSubstitution - coding silent
TPCN2ENSG00000162341ENST00000294309p.L105Lc.315C>TSubstitution - coding silent
CPT1AENSG00000110090ENST00000376618p.?c.2143-3C>TUnknown
RRP8ENSG00000132275ENST00000254605p.Q187*c.559C>TSubstitution - Nonsense
EXOSC8ENSG00000120699ENST00000389704p.R94Qc.281G>ASubstitution - Missense
TXNRD1ENSG00000198431ENST00000503506p.P414Sc.1240C>TSubstitution - Missense
NM_006561.2p.N73Nc.219C>TSubstitution - coding silent
PLEKHA1ENSG00000107679ENST00000368990p.R314Hc.941G>ASubstitution - Missense
WNT8BENSG00000075290ENST00000343737p.C11Yc.32G>ASubstitution - Missense
ARHGAP30ENSG00000186517ENST00000368016p.A877Tc.2629G>ASubstitution - Missense
USH1CENSG00000006611ENST00000005226p.Q334*c.1000C>TSubstitution - Nonsense
ADCY10ENSG00000143199ENST00000367851p.?c.1139+3G>AUnknown
ENST00000397178p.S28Sc.83C>TSubstitution - coding silent
TM7SF2ENSG00000149809ENST00000279263p.H280Yc.838C>TSubstitution - Missense
ZMPSTE24ENSG00000084073ENST00000372759p.I198fs*20c.584_585insTInsertion - Frameshift
CSTF2TENSG00000177613ENST00000331173p.M140Tc.419T>CSubstitution - Missense
CIITAENSG00000179583ENST00000324288p.H512Yc.1534C>TSubstitution - Missense
ARHGAP22ENSG00000128805ENST00000417912p.A682Vc.2045C>TSubstitution - Missense
C1orf167ENSG00000215910ENST00000433342p.S1299Nc.3896G>ASubstitution - Missense
BMP8BENSG00000116985ENST00000372827p.R392Hc.1175G>ASubstitution - Missense
SDSLENSG00000139410ENST00000345635p.V244Mc.730G>ASubstitution - Missense
ENST00000428306_v65p.?c.2280+2T>AUnknown
DCDC1ENSG00000170959ENST00000339794p.N347fs*2c.1040delADeletion - Frameshift
BIRC2ENSG00000110330ENST00000227758p.N464Nc.1392C>TSubstitution - coding silent
NLRP6ENSG00000174885ENST00000312165p.C391Yc.1172G>ASubstitution - Missense
ARHGAP20ENSG00000137727ENST00000260283p.A1107Tc.3319G>ASubstitution - Missense
MMP13ENSG00000137745ENST00000260302p.A53Vc.158C>TSubstitution - Missense
MPGENSG00000103152ENST00000219431p.M151Lc.451A>CSubstitution - Missense
AGAP7ENSG00000204169ENST00000374095p.A75Vc.224C>TSubstitution - Missense
CRAMP1LENSG00000007545ENST00000436138p.R472fs*7c.1409_1410insGInsertion - Frameshift
CFHR2ENSG00000080910ENST00000367415p.G260Gc.780G>ASubstitution - coding silent
NM_014866.1p.E2044Qc.6130G>CSubstitution - Missense
GTF3C5ENSG00000148308ENST00000372097p.D505Nc.1513G>ASubstitution - Missense
SLFN12ENSG00000172123ENST00000394562p.A537Ac.1611C>TSubstitution - coding silent
PCDHGC5ENSG00000240764ENST00000252087p.L172Lc.516A>TSubstitution - coding silent
LAMA2ENSG00000196569ENST00000421865p.T2743Ic.8228C>TSubstitution - Missense
TUBD1ENSG00000108423ENST00000325752p.T146Ic.437C>TSubstitution - Missense
ZBBXENSG00000169064ENST00000392766p.S226Nc.677G>ASubstitution - Missense
MYOZ3ENSG00000164591ENST00000297130p.G96Dc.287G>ASubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.M2613Ic.7839G>ASubstitution - Missense
PCDHA12ENSG00000251664ENST00000398631p.A454Tc.1360G>ASubstitution - Missense
PNCKENSG00000130822ENST00000370145p.R122Hc.365G>ASubstitution - Missense
ADAM19ENSG00000135074ENST00000257527p.A336Vc.1007C>TSubstitution - Missense
GPC2ENSG00000213420ENST00000292377p.C276Yc.827G>ASubstitution - Missense
NM_022835.1p.A854Sc.2560G>TSubstitution - Missense
FAM131BENSG00000159784ENST00000443739p.V16Vc.48G>ASubstitution - coding silent
PUS7ENSG00000091127ENST00000356362p.V232Ac.695T>CSubstitution - Missense
MAGEC3ENSG00000165509ENST00000544766p.E77*c.229G>TSubstitution - Nonsense
TGFB1ENSG00000105329ENST00000221930p.E119Kc.355G>ASubstitution - Missense
PIAS4ENSG00000105229ENST00000262971p.A42Tc.124G>ASubstitution - Missense
ENST00000412610_v68p.C148Yc.443G>ASubstitution - Missense
ENST00000412610p.C148Yc.443G>ASubstitution - Missense
BRD4ENSG00000141867ENST00000263377p.P723Lc.2168C>TSubstitution - Missense
PKN1ENSG00000123143ENST00000242783p.A145fs*4c.429delGDeletion - Frameshift
NEBENSG00000183091ENST00000409198p.K1306Kc.3918G>ASubstitution - coding silent
ZNF230ENSG00000159882ENST00000429154p.T247Ic.740C>TSubstitution - Missense
RBCK1ENSG00000125826ENST00000356286p.?c.168-4G>AUnknown
WISP2ENSG00000064205ENST00000372868p.P5Pc.15G>ASubstitution - coding silent
MAVSENSG00000088888ENST00000428216p.A237Vc.710C>TSubstitution - Missense
HLA-DMAENSG00000204257ENST00000374843p.P127fs*8c.378delTDeletion - Frameshift
RCAN2ENSG00000172348ENST00000330430p.D7Dc.21C>TSubstitution - coding silent
MUTENSG00000146085ENST00000274813p.G155Dc.464G>ASubstitution - Missense
COL11A2ENSG00000204248ENST00000341947p.L1550Lc.4650G>ASubstitution - coding silent
PHF1ENSG00000112511ENST00000374516p.S14Lc.41C>TSubstitution - Missense
HYDINENSG00000157423ENST00000288168p.?c.312+7G>AUnknown
USP20ENSG00000136878ENST00000372429p.S686Nc.2057G>ASubstitution - Missense
C6orf25ENSG00000204420ENST00000375809p.H166Hc.498C>TSubstitution - coding silent
RGS3ENSG00000138835ENST00000374140p.C196Cc.588C>TSubstitution - coding silent
SPTAN1ENSG00000197694ENST00000372739p.R1054Hc.3161G>ASubstitution - Missense
GLB1L3ENSG00000166105ENST00000389887p.R214Hc.641G>ASubstitution - Missense
YBX1ENSG00000065978ENST00000436427p.P300Sc.898C>TSubstitution - Missense
DIP2CENSG00000151240ENST00000381496p.Y106Hc.316T>CSubstitution - Missense
DOCK1ENSG00000150760ENST00000280333p.E1316Kc.3946G>ASubstitution - Missense
TRIM48ENSG00000150244ENST00000417545p.?c.578+6T>AUnknown
LILRA5ENSG00000187116ENST00000432233p.R115Hc.344G>ASubstitution - Missense
CLUAP1ENSG00000103351ENST00000445795p.R176*c.526C>TSubstitution - Nonsense
RHBDF1ENSG00000007384ENST00000454039p.R208*c.622C>TSubstitution - Nonsense
UNKLENSG00000059145ENST00000248104p.Q72Ec.214C>GSubstitution - Missense
GPATCH2LENSG00000089916ENST00000556663p.R316Qc.947G>ASubstitution - Missense
TMEM179ENSG00000258986ENST00000556573p.P27Pc.81G>ASubstitution - coding silent
KIF2CENSG00000142945ENST00000455186p.S183Lc.548C>TSubstitution - Missense
PLEKHG5ENSG00000171680ENST00000537245p.R707Kc.2120G>ASubstitution - Missense
BNC2ENSG00000173068ENST00000380666p.P606fs*7c.1817delCDeletion - Frameshift
ARHGEF2ENSG00000116584ENST00000368315p.K64fs*11c.189delCDeletion - Frameshift
AP3D1ENSG00000065000ENST00000356926p.R465Qc.1394G>ASubstitution - Missense
ENST00000326873_v70p.R75Mc.224G>TSubstitution - Missense
AP3D1ENSG00000065000ENST00000356926p.G129Sc.385G>ASubstitution - Missense
ENST00000393822_v70p.P306Pc.918G>ASubstitution - coding silent
HIC1ENSG00000177374ENST00000322941p.L46Lc.138G>ASubstitution - coding silent
SLC12A4ENSG00000124067ENST00000537830p.L935Lc.2803C>TSubstitution - coding silent
CCDC74BENSG00000152076ENST00000392984p.G284Gc.852C>TSubstitution - coding silent
PROCENSG00000115718ENST00000453608p.R249Hc.746G>ASubstitution - Missense
PCDHB7ENSG00000113212ENST00000231137p.A119Vc.356C>TSubstitution - Missense
FBXW7ENSG00000109670ENST00000281708p.G477Sc.1429G>ASubstitution - Missense
RETENSG00000165731ENST00000355710p.G115Gc.345C>TSubstitution - coding silent
ZSCAN25ENSG00000197037ENST00000394152p.L363Fc.1087C>TSubstitution - Missense
VPS28ENSG00000160948ENST00000377348p.S64Sc.192C>TSubstitution - coding silent
CPSF1ENSG00000071894ENST00000349769p.R891Hc.2672G>ASubstitution - Missense
RBM5ENSG00000003756ENST00000347869p.R327Hc.980G>ASubstitution - Missense
UNC93AENSG00000112494ENST00000230256p.P164Pc.492C>ASubstitution - coding silent
SIGLEC15ENSG00000197046ENST00000389474p.A239Ac.717C>TSubstitution - coding silent
CD28ENSG00000178562ENST00000324106p.V65Vc.195C>TSubstitution - coding silent
ZNF512BENSG00000196700ENST00000369888p.L780Lc.2340G>ASubstitution - coding silent
TMEM8AENSG00000129925ENST00000431232p.S711Fc.2132C>TSubstitution - Missense
IL17CENSG00000124391ENST00000244241p.H50fs*68c.146_147insCInsertion - Frameshift
ENST00000570743p.R1716Hc.5147G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000346145p.T1053Ic.3158C>TSubstitution - Missense
TMEM104ENSG00000109066ENST00000335464p.P221Pc.663G>ASubstitution - coding silent
ENST00000333778_v68p.E99Kc.295G>ASubstitution - Missense
SLC27A5ENSG00000083807ENST00000263093p.A624Pc.1870G>CSubstitution - Missense
SLC27A5ENSG00000083807ENST00000263093p.V582Mc.1744G>ASubstitution - Missense
HDAC6ENSG00000094631ENST00000334136p.R243Hc.728G>ASubstitution - Missense
EPB41L4AENSG00000129595ENST00000261486p.S314Cc.941C>GSubstitution - Missense
ABCA8ENSG00000141338ENST00000269080p.S1018Sc.3054C>ASubstitution - coding silent
LLGL2ENSG00000073350ENST00000392550p.P137Tc.409C>ASubstitution - Missense
CES4AENSG00000172824ENST00000326686p.F252Lc.756C>GSubstitution - Missense
EDC4ENSG00000038358ENST00000358933p.A1010Pc.3028G>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.T2819Kc.8456C>ASubstitution - Missense
VEPH1ENSG00000197415ENST00000392832p.D579Yc.1735G>TSubstitution - Missense
KPNA4ENSG00000186432ENST00000334256p.D108Gc.323A>GSubstitution - Missense
FOXD4L1ENSG00000184492ENST00000306507p.R386Cc.1156C>TSubstitution - Missense
FLNAENSG00000196924ENST00000369850p.R1633Pc.4898G>CSubstitution - Missense
FLNAENSG00000196924ENST00000369850p.G1420Sc.4258G>ASubstitution - Missense
DKC1ENSG00000130826ENST00000369550p.Q182Qc.546G>ASubstitution - coding silent
GLI2ENSG00000074047ENST00000361492p.L245Lc.735G>ASubstitution - coding silent
NM_005689.1p.V657Vc.1971G>ASubstitution - coding silent
PEX6ENSG00000124587ENST00000304611p.?c.1885-2A>GUnknown
SAMM50ENSG00000100347ENST00000350028p.R346Hc.1037G>ASubstitution - Missense
SREBF2ENSG00000198911ENST00000361204p.R1111Hc.3332G>ASubstitution - Missense
OSBPL11ENSG00000144909ENST00000296220p.G545Gc.1635C>TSubstitution - coding silent
TBC1D10BENSG00000169221ENST00000409939p.T624Tc.1872G>ASubstitution - coding silent
SEPT1ENSG00000180096ENST00000571393p.R245Hc.734G>ASubstitution - Missense
EML2ENSG00000125746ENST00000245925p.G154Dc.461G>ASubstitution - Missense
PRR14ENSG00000156858ENST00000300835p.R450Ic.1349G>TSubstitution - Missense
MAPK3ENSG00000102882ENST00000263025p.A59Tc.175G>ASubstitution - Missense
NPAS1ENSG00000130751ENST00000449844p.?c.432+5G>AUnknown
SETD1AENSG00000099381ENST00000262519p.S479Sc.1437T>CSubstitution - coding silent
ZNF689ENSG00000156853ENST00000287461p.G492fs*>9c.1475delGDeletion - Frameshift
C9orf142ENSG00000148362ENST00000371620p.L105Lc.315G>ASubstitution - coding silent
TSSK6ENSG00000178093ENST00000360913p.Y203Yc.609C>TSubstitution - coding silent
TUBB4BENSG00000188229ENST00000340384p.Q8*c.22C>TSubstitution - Nonsense
SLC9C1ENSG00000172139ENST00000305815p.Q754Hc.2262A>TSubstitution - Missense
MAPK14ENSG00000112062ENST00000229795p.Y69Hc.205T>CSubstitution - Missense
SBF1ENSG00000100241ENST00000390679p.V822Lc.2464G>CSubstitution - Missense
KIAA1683ENSG00000130518ENST00000392413p.A564Vc.1691C>TSubstitution - Missense
ZC3H12BENSG00000102053ENST00000338957p.V424fs*14c.1265delGDeletion - Frameshift
MKNK2ENSG00000099875ENST00000250896p.D153Dc.459C>TSubstitution - coding silent
ENTHD1ENSG00000176177ENST00000325157p.Y118Fc.353A>TSubstitution - Missense
APOBEC3CENSG00000244509ENST00000361441p.V114Mc.340G>ASubstitution - Missense
LY86ENSG00000112799ENST00000379953p.T151Tc.453C>TSubstitution - coding silent
MEF2CENSG00000081189ENST00000437473p.?c.965-2A>GUnknown
SEMA5AENSG00000112902ENST00000382496p.S519Nc.1556G>ASubstitution - Missense
ZNF462ENSG00000148143ENST00000457913p.P1102fs*39c.3298delCDeletion - Frameshift
FAM86B1ENSG00000186523ENST00000431227p.Q291Ec.871C>GSubstitution - Missense
ACO2ENSG00000100412ENST00000216254p.?c.1138+1G>AUnknown
MICAL1ENSG00000135596ENST00000358807p.A792Vc.2375C>TSubstitution - Missense
KIF2BENSG00000141200ENST00000268919p.E590*c.1768G>TSubstitution - Nonsense
POMT1ENSG00000130714ENST00000372220p.L315Lc.943C>TSubstitution - coding silent
HTR4ENSG00000164270ENST00000360693p.F201Fc.603C>TSubstitution - coding silent
HEATR4ENSG00000187105ENST00000334988p.L479Lc.1437G>ASubstitution - coding silent
MKL2ENSG00000186260ENST00000341243p.R561Hc.1682G>ASubstitution - Missense
NOXO1ENSG00000196408ENST00000356120p.C170Yc.509G>ASubstitution - Missense
RIC8AENSG00000177963ENST00000325207p.T491Tc.1473C>TSubstitution - coding silent
GRIA4ENSG00000152578ENST00000282499p.R697*c.2089C>TSubstitution - Nonsense
SLC25A24ENSG00000085491ENST00000565488p.Q303*c.907C>TSubstitution - Nonsense
CELSR2ENSG00000143126ENST00000271332p.K2176Kc.6528A>GSubstitution - coding silent
SLC15A4ENSG00000139370ENST00000266771p.T340Ac.1018A>GSubstitution - Missense
NXPE4ENSG00000137634ENST00000375478p.G206Dc.617G>ASubstitution - Missense
ONECUT1ENSG00000169856ENST00000305901p.G81Dc.242G>ASubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.K1478fs*3c.4430delADeletion - Frameshift
LRP6ENSG00000070018ENST00000261349p.I119Vc.355A>GSubstitution - Missense
ADAMTS17ENSG00000140470ENST00000268070p.D613Nc.1837G>ASubstitution - Missense
GON4LENSG00000116580ENST00000437809p.P451Tc.1351C>ASubstitution - Missense
GON4LENSG00000116580ENST00000437809p.P451Tc.1351C>ASubstitution - Missense
PKP1ENSG00000081277ENST00000367324p.P216Pc.648G>ASubstitution - coding silent
RHOVENSG00000104140ENST00000220507p.E176Ec.528G>ASubstitution - coding silent
VPS13CENSG00000129003ENST00000395896p.?c.9888+1G>AUnknown
CDC16ENSG00000130177ENST00000360383p.T578Mc.1733C>TSubstitution - Missense
ABCA4ENSG00000198691ENST00000370225p.Q71*c.211C>TSubstitution - Nonsense
LIFRENSG00000113594ENST00000263409p.F323Lc.967T>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T6708Rc.20123C>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T6708Rc.20123C>GSubstitution - Missense
NM_003954p.Q425Rc.1274A>GSubstitution - Missense
C20orf26ENSG00000089101ENST00000245957p.?c.1591-1G>TUnknown
HOXB3ENSG00000120093ENST00000311626p.E328Kc.982G>ASubstitution - Missense
TAF1CENSG00000103168ENST00000378541p.P808Qc.2423C>ASubstitution - Missense
SRSF11ENSG00000116754ENST00000370949p.D323Dc.969C>TSubstitution - coding silent
NR0B2ENSG00000131910ENST00000254227p.C151Rc.451T>CSubstitution - Missense
TRIM63ENSG00000158022ENST00000374272p.D327Yc.979G>TSubstitution - Missense
BARD1ENSG00000138376ENST00000260947p.Q177*c.529C>TSubstitution - Nonsense
STAT1ENSG00000115415ENST00000361099p.V389Vc.1167G>ASubstitution - coding silent
RALGAPA2ENSG00000188559ENST00000202677p.V1200Mc.3598G>ASubstitution - Missense
WDR81ENSG00000167716ENST00000409644p.Q182*c.544C>TSubstitution - Nonsense
SLC25A41ENSG00000181240ENST00000321510p.L132Lc.396G>ASubstitution - coding silent
CHMP2AENSG00000130724ENST00000312547p.T112Tc.336C>TSubstitution - coding silent
SF3A2ENSG00000104897ENST00000221494p.T37Tc.111C>GSubstitution - coding silent
GALR2ENSG00000182687ENST00000329003p.L104Fc.310C>TSubstitution - Missense
SRSF2ENSG00000161547ENST00000392485p.S169Fc.506C>TSubstitution - Missense
JSRP1ENSG00000167476ENST00000300961p.A168Tc.502G>ASubstitution - Missense
PRPF8ENSG00000174231ENST00000304992p.T618Tc.1854G>ASubstitution - coding silent
NUTM2FENSG00000130950ENST00000253262p.P428Pc.1284G>ASubstitution - coding silent
MRPL38ENSG00000204316ENST00000309352p.?c.1007-3C>TUnknown
MAMDC2ENSG00000165072ENST00000377182p.G5Gc.15C>TSubstitution - coding silent
NECAB3ENSG00000125967ENST00000246190p.L86Fc.256C>TSubstitution - Missense
HSPA12BENSG00000132622ENST00000254963p.T662Nc.1985C>ASubstitution - Missense
CDS2ENSG00000101290ENST00000460006p.E36Dc.108G>CSubstitution - Missense
PRKCDENSG00000163932ENST00000394729p.A195Vc.584C>TSubstitution - Missense
S1PR5ENSG00000180739ENST00000333430p.L25Lc.75C>TSubstitution - coding silent
HMHA1ENSG00000180448ENST00000313093p.Y557Yc.1671C>TSubstitution - coding silent
TYK2ENSG00000105397ENST00000525621p.?c.1011+10G>AUnknown
UBN1ENSG00000118900ENST00000396658p.A29Vc.86C>TSubstitution - Missense
PROL1ENSG00000171199ENST00000399575p.L131fs*9c.390_391insTInsertion - Frameshift
LCA5LENSG00000157578ENST00000358268p.I278fs*8c.832delADeletion - Frameshift
ENST00000360228_v70p.M1617Ic.4851G>TSubstitution - Missense
BACE2ENSG00000182240ENST00000330333p.W469*c.1406G>ASubstitution - Nonsense
COL18A1ENSG00000182871ENST00000355480p.E941Ec.2823G>ASubstitution - coding silent
STARD7ENSG00000084090ENST00000337288p.R15Rc.43C>ASubstitution - coding silent
SLC16A3ENSG00000141526ENST00000392341p.L270Mc.808C>ASubstitution - Missense
SMCHD1ENSG00000101596ENST00000320876p.P844Pc.2532T>CSubstitution - coding silent
HOOK2ENSG00000095066ENST00000397668p.R601Sc.1801C>ASubstitution - Missense
CAMKK1ENSG00000004660ENST00000348335p.Q167*c.499C>TSubstitution - Nonsense
ATP2A3ENSG00000074370ENST00000359983p.E245Kc.733G>ASubstitution - Missense
DOPEY2ENSG00000142197ENST00000399151p.D1911Ec.5733C>ASubstitution - Missense
ENST00000317826p.A101Tc.301G>ASubstitution - Missense
GSDMCENSG00000147697ENST00000276708p.L452Ic.1354C>ASubstitution - Missense
SLC45A4ENSG00000022567ENST00000024061p.L305Pc.914T>CSubstitution - Missense
SPTAN1ENSG00000197694ENST00000372731p.R1054Hc.3161G>ASubstitution - Missense
ENST00000334956_v70p.E206Kc.616G>ASubstitution - Missense
ARHGAP22ENSG00000128805ENST00000417247p.A576Vc.1727C>TSubstitution - Missense
ANKRD33ENSG00000167612ENST00000340970p.P139Sc.415C>TSubstitution - Missense
NXF1ENSG00000162231ENST00000531709p.G67Vc.200G>TSubstitution - Missense
ZNF747ENSG00000169955ENST00000535210p.R67Lc.200G>TSubstitution - Missense
MAPKBP1ENSG00000137802ENST00000456763p.G497Rc.1489G>ASubstitution - Missense
USH2AENSG00000042781ENST00000366943p.R4005Rc.12015A>GSubstitution - coding silent
GPATCH2ENSG00000092978ENST00000366934p.P320Pc.960T>CSubstitution - coding silent
PPM1MENSG00000164088ENST00000457351p.L366Lc.1096C>TSubstitution - coding silent
CCDC74BENSG00000152076ENST00000392984p.A356Gc.1067C>GSubstitution - Missense
DHX36ENSG00000174953ENST00000544526p.Q94Qc.282A>GSubstitution - coding silent
CRISP3ENSG00000096006ENST00000433368p.Q134Hc.402A>TSubstitution - Missense
GLOD4ENSG00000167699ENST00000301328p.P152Lc.455C>TSubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.E402Dc.1206G>TSubstitution - Missense
WDR34ENSG00000119333ENST00000451652p.A82Sc.244G>TSubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.S2760Sc.8280G>ASubstitution - coding silent
ENGENSG00000106991ENST00000373203p.?c.1273-4G>AUnknown
DOCK4ENSG00000128512ENST00000494651p.P760Pc.2280G>ASubstitution - coding silent
MYO1BENSG00000128641ENST00000339514p.S730fs*4c.2182delADeletion - Frameshift
TUBBENSG00000196230ENST00000327892p.G140Gc.420C>TSubstitution - coding silent
XPO7ENSG00000130227ENST00000434536p.R1075Cc.3223C>TSubstitution - Missense
DDX60LENSG00000181381ENST00000505890p.A449Tc.1345G>ASubstitution - Missense
SEC31AENSG00000138674ENST00000395310p.R894Qc.2681G>ASubstitution - Missense
CDCA5ENSG00000146670ENST00000275517p.R144Cc.430C>TSubstitution - Missense
MTG1ENSG00000148824ENST00000317502p.R138Qc.413G>ASubstitution - Missense
ADARB2ENSG00000185736ENST00000381312p.G95Gc.285C>TSubstitution - coding silent
LRP1ENSG00000123384ENST00000243077p.D2764Dc.8292C>TSubstitution - coding silent
ENST00000331340_v65p.N317Nc.951C>TSubstitution - coding silent
SFPQENSG00000116560ENST00000357214p.G614Gc.1842C>TSubstitution - coding silent
PVRIGENSG00000213413ENST00000317271p.G79fs*245c.230delGDeletion - Frameshift
GRINAENSG00000178719ENST00000395068p.Q26fs*142c.66delGDeletion - Frameshift
MAP3K6ENSG00000142733ENST00000493901p.F849fs*40c.2544_2545insCInsertion - Frameshift
B4GALNT4ENSG00000182272ENST00000329962p.G991fs*>49c.2966delGDeletion - Frameshift
DNAH14ENSG00000185842ENST00000445597p.S772Yc.2315C>ASubstitution - Missense
FARP1ENSG00000152767ENST00000376581p.*130fs?c.388_389insTInsertion - Frameshift
NVLENSG00000143748ENST00000281701p.D189fs*5c.560_561insTInsertion - Frameshift
CENPFENSG00000117724ENST00000366955p.R205Hc.614G>ASubstitution - Missense
DGKAENSG00000065357ENST00000331886p.R367Wc.1099C>TSubstitution - Missense
ZNF385AENSG00000161642ENST00000551109p.A87Dc.260C>ASubstitution - Missense
CD34ENSG00000174059ENST00000310833p.L270Lc.808C>TSubstitution - coding silent
CR1ENSG00000203710ENST00000367049p.G1548Ec.4643G>ASubstitution - Missense
TIRAPENSG00000150455ENST00000392678p.D203Nc.607G>ASubstitution - Missense
PRR5LENSG00000135362ENST00000378867p.A259Tc.775G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.S1930Sc.5790C>TSubstitution - coding silent
LRP1ENSG00000123384ENST00000243077p.S3899Nc.11696G>ASubstitution - Missense
MBD6ENSG00000166987ENST00000355673p.G127Rc.379G>ASubstitution - Missense
FOXJ2ENSG00000065970ENST00000162391p.R68Qc.203G>ASubstitution - Missense
TMEM55BENSG00000165782ENST00000250489p.R139Wc.415C>TSubstitution - Missense
ZNF839ENSG00000022976ENST00000442396p.V864Fc.2590G>TSubstitution - Missense
PITPNM1ENSG00000110697ENST00000534749p.A531Ac.1593C>GSubstitution - coding silent
USH1CENSG00000006611ENST00000318024p.A274Dc.821C>ASubstitution - Missense
SRSF4ENSG00000116350ENST00000373795p.Q424Qc.1272G>ASubstitution - coding silent
SERPINC1ENSG00000117601ENST00000367698p.R45Wc.133C>TSubstitution - Missense
IRAK4ENSG00000198001ENST00000448290p.P366Pc.1098C>TSubstitution - coding silent
ENST00000398860p.R1751fs*48c.5247delCDeletion - Frameshift
SUPV3L1ENSG00000156502ENST00000359655p.V586Lc.1756G>TSubstitution - Missense
EXO5ENSG00000164002ENST00000372703p.D130Vc.389A>TSubstitution - Missense
VPS13DENSG00000048707ENST00000358136p.S4218Sc.12654C>TSubstitution - coding silent
MAP1AENSG00000166963ENST00000300231p.A1115Vc.3344C>TSubstitution - Missense
TTC23ENSG00000103852ENST00000394132p.T435Ic.1304C>TSubstitution - Missense
SNAPC3ENSG00000164975ENST00000380821p.A291Vc.872C>TSubstitution - Missense
MAU2ENSG00000129933ENST00000392313p.V597fs*>17c.1783delCDeletion - Frameshift
TBX22ENSG00000122145ENST00000373296p.I113Ic.339C>ASubstitution - coding silent
CRLF1ENSG00000006016ENST00000392386p.C313Cc.939C>TSubstitution - coding silent
ABHD17AENSG00000129968ENST00000250974p.D131Ec.393C>ASubstitution - Missense
ANKRD32ENSG00000133302ENST00000265140p.S98Fc.293C>TSubstitution - Missense
MDGA1ENSG00000112139ENST00000434837p.?c.2402-6C>TUnknown
NCAPH2ENSG00000025770ENST00000299821p.T502Ic.1505C>TSubstitution - Missense
RHOBTB3ENSG00000164292ENST00000379982p.S297Nc.890G>ASubstitution - Missense
POC5ENSG00000152359ENST00000428202p.L416Lc.1248G>ASubstitution - coding silent
MAST4ENSG00000069020ENST00000405643p.C465Cc.1395C>TSubstitution - coding silent
SBF1ENSG00000100241ENST00000380817p.G1691Gc.5073C>TSubstitution - coding silent
MAP1BENSG00000131711ENST00000296755p.A806Vc.2417C>TSubstitution - Missense
TUBGCP6ENSG00000128159ENST00000248846p.S1030Sc.3090A>GSubstitution - coding silent
TRAF3IP2ENSG00000056972ENST00000368761p.C82Yc.245G>ASubstitution - Missense
EYSENSG00000188107ENST00000370621p.?c.8071+3G>AUnknown
SORBS2ENSG00000154556ENST00000448662p.E598*c.1792G>TSubstitution - Nonsense
FAT1ENSG00000083857ENST00000441802p.T1216Ic.3647C>TSubstitution - Missense
TERTENSG00000164362ENST00000310581p.?c.2655-5C>TUnknown
DDX46ENSG00000145833ENST00000354283p.V691Ic.2071G>ASubstitution - Missense
DNAJC7ENSG00000168259ENST00000457167p.E244Gc.731A>GSubstitution - Missense
TMEM101ENSG00000091947ENST00000206380p.L148Mc.442C>ASubstitution - Missense
CNPENSG00000173786ENST00000393892p.L32Lc.96G>ASubstitution - coding silent
STOX2ENSG00000173320ENST00000308497p.G664fs*50c.1987delGDeletion - Frameshift
WHSC1ENSG00000109685ENST00000382891p.K6Kc.18G>ASubstitution - coding silent
ENST00000437720p.V143Vc.429C>TSubstitution - coding silent
SURF1ENSG00000148290ENST00000371974p.?c.240+10G>AUnknown
ENST00000421549p.V1490Vc.4470C>TSubstitution - coding silent
SYNCRIPENSG00000135316ENST00000369622p.N285fs*22c.854delADeletion - Frameshift
OXR1ENSG00000164830ENST00000297447p.Y109Cc.326A>GSubstitution - Missense
PCDHB1ENSG00000171815ENST00000306549p.L672Lc.2016G>ASubstitution - coding silent
NM_013364.2p.N107Sc.320A>GSubstitution - Missense
IL12BENSG00000113302ENST00000231228p.L103Qc.308T>ASubstitution - Missense
FLOT1ENSG00000137312ENST00000376389p.V256Mc.766G>ASubstitution - Missense
DOCK4ENSG00000128512ENST00000437633p.P1877Pc.5631G>ASubstitution - coding silent
MTSS1LENSG00000132613ENST00000338779p.C276Cc.828C>TSubstitution - coding silent
KBTBD2ENSG00000170852ENST00000304056p.L367Fc.1099C>TSubstitution - Missense
HNRNPLENSG00000104824ENST00000388749p.V399Mc.1195G>ASubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.C1387Yc.4160G>ASubstitution - Missense
ZEB2ENSG00000169554ENST00000303660p.A1095Vc.3284C>TSubstitution - Missense
SPATA18ENSG00000163071ENST00000295213p.R298Cc.892C>TSubstitution - Missense
TECRENSG00000099797ENST00000215567p.R216Pc.647G>CSubstitution - Missense
CHERPENSG00000085872ENST00000546361p.F648Fc.1944C>TSubstitution - coding silent
VWA3AENSG00000175267ENST00000299840p.D206Dc.618C>TSubstitution - coding silent
SPEF1ENSG00000101222ENST00000379756p.V183Ic.547G>ASubstitution - Missense
XM_496125.1p.T371Mc.1112C>TSubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.Q2519Qc.7557G>ASubstitution - coding silent
PLIN4ENSG00000167676ENST00000301286p.A463Tc.1387G>ASubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.K452Kc.1356G>ASubstitution - coding silent
PFN3ENSG00000196570ENST00000358571p.V11Vc.33G>TSubstitution - coding silent
HLA-DMBENSG00000242574ENST00000418107p.T127Mc.380C>TSubstitution - Missense
GTPBP2ENSG00000172432ENST00000307126p.L547Lc.1641G>ASubstitution - coding silent
SLC22A23ENSG00000137266ENST00000406686p.F353fs*18c.1056delCDeletion - Frameshift
BAK1ENSG00000030110ENST00000374467p.E32Kc.94G>ASubstitution - Missense
CRISP3ENSG00000096006ENST00000263045p.Q111Hc.333A>TSubstitution - Missense
SYNGAP1ENSG00000197283ENST00000293748p.S861Sc.2583G>ASubstitution - coding silent
ENST00000382453p.E239Gc.716A>GSubstitution - Missense
NM_203304.1p.P89Pc.267G>ASubstitution - coding silent
AP1M1ENSG00000072958ENST00000291439p.?c.889-2A>GUnknown
CYP4F11ENSG00000171903ENST00000248041p.T485Ic.1454C>TSubstitution - Missense
NWD1ENSG00000188039ENST00000524140p.R383Hc.1148G>ASubstitution - Missense
ENDOGENSG00000167136ENST00000372642p.V193Ic.577G>ASubstitution - Missense
LY6G6EENSG00000255552ENST00000409239p.G82Dc.245G>ASubstitution - Missense
ISL1ENSG00000016082ENST00000230658p.R112Cc.334C>TSubstitution - Missense
CCDC57ENSG00000176155ENST00000389641p.E33Dc.99G>TSubstitution - Missense
TLR9ENSG00000239732ENST00000360658p.G695Vc.2084G>TSubstitution - Missense
GLYCTKENSG00000168237ENST00000436784p.T166Ic.497C>TSubstitution - Missense
NM_016507p.R1404Hc.4211G>ASubstitution - Missense
RGS12ENSG00000159788ENST00000338806p.N2Dc.4A>GSubstitution - Missense
UGT2B15ENSG00000196620ENST00000338206p.L477Ic.1429C>ASubstitution - Missense
ENST00000292520p.L833Lc.2499C>GSubstitution - coding silent
TECPR1ENSG00000205356ENST00000379795p.A431Vc.1292C>TSubstitution - Missense
ENST00000273600p.N3551Nc.10653C>TSubstitution - coding silent
DLL1ENSG00000198719ENST00000366756p.E223Kc.667G>ASubstitution - Missense
TLR9ENSG00000239732ENST00000360658p.S696Tc.2087G>CSubstitution - Missense
SOX12ENSG00000177732ENST00000342665p.D310Yc.928G>TSubstitution - Missense
ZFAND1ENSG00000104231ENST00000220669p.K237Kc.711G>ASubstitution - coding silent
GPAA1ENSG00000197858ENST00000355091p.L280Lc.840G>ASubstitution - coding silent
ZAP70ENSG00000115085ENST00000264972p.G226Dc.677G>ASubstitution - Missense
NM_003319p.V20739Vc.62217C>TSubstitution - coding silent
SLX4ENSG00000188827ENST00000294008p.?c.4740-5G>AUnknown
SLX4ENSG00000188827ENST00000294008p.Q1408Hc.4224G>TSubstitution - Missense
SU_caMLCKp.C460Yc.1379G>ASubstitution - Missense
ZCCHC14ENSG00000140948ENST00000268616p.P739Pc.2217T>ASubstitution - coding silent
SPG7ENSG00000197912ENST00000268704p.G352fs*44c.1053_1054insCInsertion - Frameshift
ZC3H18ENSG00000158545ENST00000301011p.R419Wc.1255C>TSubstitution - Missense
MVDENSG00000167508ENST00000301012p.A159Sc.475G>TSubstitution - Missense
RNF166ENSG00000158717ENST00000312838p.R174Rc.522C>TSubstitution - coding silent
SENP7ENSG00000138468ENST00000394095p.K459Nc.1377G>CSubstitution - Missense
SLX4ENSG00000188827ENST00000294008p.S1249Nc.3746G>ASubstitution - Missense
RNPEPL1ENSG00000142327ENST00000270357p.P405Pc.1215G>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.P3794Hc.11381C>ASubstitution - Missense
ZMAT5ENSG00000100319ENST00000344318p.V141Mc.421G>ASubstitution - Missense
LARGEENSG00000133424ENST00000397394p.I564Nc.1691T>ASubstitution - Missense
DMDENSG00000198947ENST00000378677p.H489Rc.1466A>GSubstitution - Missense
OGG1ENSG00000114026ENST00000302036p.A85Dc.254C>ASubstitution - Missense
OGG1ENSG00000114026ENST00000302036p.?c.566-1G>TUnknown
MUC4ENSG00000145113ENST00000346145p.P147Lc.440C>TSubstitution - Missense
HACL1ENSG00000131373ENST00000321169p.M357fs*1c.1069delADeletion - Frameshift
GPR56ENSG00000205336ENST00000379696p.I56Ic.168C>ASubstitution - coding silent
PIGQENSG00000007541ENST00000321878p.R502Wc.1504C>TSubstitution - Missense
FAM65AENSG00000039523ENST00000042381p.H184fs*26c.545delGDeletion - Frameshift
KIFC3ENSG00000140859ENST00000379655p.T612Ic.1835C>TSubstitution - Missense
ZIC4ENSG00000174963ENST00000383075p.R64Cc.190C>TSubstitution - Missense
VILLENSG00000136059ENST00000283713p.R564Rc.1692G>ASubstitution - coding silent
ARPP21ENSG00000172995ENST00000187397p.S338Pc.1012T>CSubstitution - Missense
LRRFIP2ENSG00000093167ENST00000336686p.A233Tc.697G>ASubstitution - Missense
REEP5ENSG00000129625ENST00000379638p.G31Dc.92G>ASubstitution - Missense
SLC33A1ENSG00000169359ENST00000392845p.G405fs*9c.1214delGDeletion - Frameshift
TRPC3ENSG00000138741ENST00000264811p.F157Fc.471C>TSubstitution - coding silent
SYNPO2ENSG00000172403ENST00000307142p.K1137Ec.3409A>GSubstitution - Missense
PLCH1ENSG00000114805ENST00000340059p.R50Rc.150C>TSubstitution - coding silent
PLCH1ENSG00000114805ENST00000447496p.R50Rc.150C>TSubstitution - coding silent
TRADDENSG00000102871ENST00000345057p.R231Hc.692G>ASubstitution - Missense
INMTENSG00000241644ENST00000013222p.A134Vc.401C>TSubstitution - Missense
ZC3H12DENSG00000178199ENST00000389942p.T165Tc.495G>ASubstitution - coding silent
ALPPL2ENSG00000163286ENST00000295453p.A478Ac.1434G>ASubstitution - coding silent
LRRFIP1ENSG00000124831ENST00000308482p.L376Lc.1128C>TSubstitution - coding silent
INHAENSG00000123999ENST00000243786p.L197Lc.591G>TSubstitution - coding silent
SLC16A14ENSG00000163053ENST00000295190p.H273Hc.819C>TSubstitution - coding silent
SP140ENSG00000079263ENST00000392045p.V98Vc.294A>GSubstitution - coding silent
GUSBENSG00000169919ENST00000304895p.Y299Hc.895T>CSubstitution - Missense
POM121CENSG00000135213ENST00000453279p.P762Pc.2286C>TSubstitution - coding silent
GTSE1ENSG00000075218ENST00000454366p.L650Lc.1948C>TSubstitution - coding silent
KIAA0556ENSG00000047578ENST00000261588p.A1177Dc.3530C>ASubstitution - Missense
ZNF114ENSG00000178150ENST00000315849p.T170fs*3c.502_503insAInsertion - Frameshift
SETD1AENSG00000099381ENST00000262519p.V480Ec.1439T>ASubstitution - Missense
STK38ENSG00000112079ENST00000229812p.T425Kc.1274C>ASubstitution - Missense
NBL1ENSG00000158747ENST00000289749p.S82Sc.246C>TSubstitution - coding silent
SPAG6ENSG00000077327ENST00000376603p.R87Wc.259C>TSubstitution - Missense
IFITM1ENSG00000185885ENST00000408968p.V109Mc.325G>ASubstitution - Missense
IRF2BPLENSG00000119669ENST00000238647p.S7Yc.20C>ASubstitution - Missense
AMIGO1ENSG00000181754ENST00000369862p.Q51Ec.151C>GSubstitution - Missense
HFE2ENSG00000168509ENST00000336751p.E45Kc.133G>ASubstitution - Missense
NM_020824.2p.D1635Nc.4903G>ASubstitution - Missense
OR2W3ENSG00000238243ENST00000360358p.S7Nc.20G>ASubstitution - Missense
ARHGEF10LENSG00000074964ENST00000361221p.Q1260*c.3778C>TSubstitution - Nonsense
ATN1ENSG00000111676ENST00000396684p.A648Vc.1943C>TSubstitution - Missense
NINJ2ENSG00000171840ENST00000305108p.V162Mc.484G>ASubstitution - Missense
CREB3L4ENSG00000143578ENST00000368603p.P102fs*32c.301delCDeletion - Frameshift
ST5ENSG00000166444ENST00000534127p.A97Vc.290C>TSubstitution - Missense
AVPR1BENSG00000198049ENST00000367126p.D248Dc.744C>TSubstitution - coding silent
NFASCENSG00000163531ENST00000360049p.R313Cc.937C>TSubstitution - Missense
PM20D1ENSG00000162877ENST00000367136p.A50Tc.148G>ASubstitution - Missense
SYT2ENSG00000143858ENST00000367267p.V27Mc.79G>ASubstitution - Missense
ENST00000280576p.M1724Ic.5172G>ASubstitution - Missense
NINENSG00000100503ENST00000382041p.G1330Gc.3990C>TSubstitution - coding silent
THBS3ENSG00000169231ENST00000368378p.R121Hc.362G>ASubstitution - Missense
YY1AP1ENSG00000163374ENST00000295566p.A597Tc.1789G>ASubstitution - Missense
ITPK1ENSG00000100605ENST00000267615p.I250Ic.750C>TSubstitution - coding silent
USP24ENSG00000162402ENST00000294383p.G1036Gc.3108C>TSubstitution - coding silent
LPAR3ENSG00000171517ENST00000370611p.T19Tc.57T>GSubstitution - coding silent
ARHGAP11AENSG00000198826ENST00000361627p.E700Kc.2098G>ASubstitution - Missense
NM_005870.3p.G38Dc.113G>ASubstitution - Missense
HOXB3ENSG00000120093ENST00000311626p.C315Yc.944G>ASubstitution - Missense
ENST00000331986p.T2341Rc.7022C>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T424Tc.1272G>CSubstitution - coding silent
NPHP4ENSG00000131697ENST00000378156p.?c.3644+5G>CUnknown
CNKSR1ENSG00000142675ENST00000361530p.G10fs*7c.23delCDeletion - Frameshift
CERKLENSG00000188452ENST00000339098p.?c.677+4G>TUnknown
KLF7ENSG00000118263ENST00000309446p.A24Tc.70G>ASubstitution - Missense
ENST00000281753p.?c.299-4G>AUnknown
CAMSAP3ENSG00000076826ENST00000160298p.A1186Vc.3557C>TSubstitution - Missense
DENND1CENSG00000205744ENST00000381480p.D101Nc.301G>ASubstitution - Missense
ENST00000166139_v68p.Q208Qc.624G>ASubstitution - coding silent
CD33ENSG00000105383ENST00000262262p.T30Mc.89C>TSubstitution - Missense
VSIG1ENSG00000101842ENST00000415430p.?c.213+1G>AUnknown
EVPLENSG00000167880ENST00000301607p.R1338Lc.4013G>TSubstitution - Missense
MYO1CENSG00000197879ENST00000361007p.A991Gc.2972C>GSubstitution - Missense
FBXW10ENSG00000171931ENST00000395667p.C255Cc.765C>TSubstitution - coding silent
UBE2OENSG00000175931ENST00000319380p.R1118Wc.3352C>TSubstitution - Missense
COL4A6ENSG00000197565ENST00000418180p.K15Rc.44A>GSubstitution - Missense
ATP9AENSG00000054793ENST00000338821p.S936Sc.2808C>TSubstitution - coding silent
TUBB1ENSG00000101162ENST00000217133p.G96Rc.286G>ASubstitution - Missense
TSHZ2ENSG00000182463ENST00000371497p.P740Pc.2220G>ASubstitution - coding silent
KIF13BENSG00000197892ENST00000524189p.S858Sc.2574C>ASubstitution - coding silent
GBA2ENSG00000070610ENST00000378094p.G116Gc.348C>TSubstitution - coding silent
LRRC4ENSG00000128594ENST00000249363p.I530Tc.1589T>CSubstitution - Missense
PIGSENSG00000087111ENST00000308360p.D237Nc.709G>ASubstitution - Missense
TNKSENSG00000173273ENST00000310430p.Y1243Yc.3729T>CSubstitution - coding silent
SGSM2ENSG00000141258ENST00000268989p.L555Lc.1665G>ASubstitution - coding silent
INTS9ENSG00000104299ENST00000521022p.P42Qc.125C>ASubstitution - Missense
GAAENSG00000171298ENST00000390015p.E216Ec.648G>ASubstitution - coding silent
KEAP1ENSG00000079999ENST00000393623p.S243Fc.728C>TSubstitution - Missense
RAC3ENSG00000169750ENST00000306897p.P181fs*2c.538delCDeletion - Frameshift
RFNGENSG00000169733ENST00000310496p.?c.915-5C>TUnknown
RPTORENSG00000141564ENST00000306801p.Q1264fs*4c.3786delCDeletion - Frameshift
ALDH3A2ENSG00000072210ENST00000581518p.L92Lc.274C>TSubstitution - coding silent
ZNF423ENSG00000102935ENST00000561648p.P551Lc.1652C>TSubstitution - Missense
ENST00000325084p.?c.5252+8G>CUnknown
ASTLENSG00000188886ENST00000342380p.E193Ec.579G>ASubstitution - coding silent
ANKRD36CENSG00000174501ENST00000456556p.K1654fs*13c.4962delADeletion - Frameshift
ZRANB3ENSG00000121988ENST00000536680p.?c.1955-10A>GUnknown
TTLL9ENSG00000131044ENST00000375922p.K60Kc.180G>ASubstitution - coding silent
TNIP1ENSG00000145901ENST00000523338p.M1Ic.3G>ASubstitution - Missense
ENST00000378024_v70p.M3937Ic.11811G>ASubstitution - Missense
ACSL6ENSG00000164398ENST00000379249p.?c.578-4G>AUnknown
ENSG00000255622ENST00000539533p.S562Sc.1686G>ASubstitution - coding silent
TCF25ENSG00000141002ENST00000263347p.L177Lc.531G>ASubstitution - coding silent
CACNA1EENSG00000198216ENST00000357570p.P712Sc.2134C>TSubstitution - Missense
KDM6AENSG00000147050ENST00000382899p.S1281Sc.3843C>TSubstitution - coding silent
ABCC10ENSG00000124574ENST00000372530p.L509Lc.1527G>ASubstitution - coding silent
CLVS2ENSG00000146352ENST00000275162p.R181*c.541C>TSubstitution - Nonsense
PTPRCENSG00000081237ENST00000442510p.G863Rc.2587G>ASubstitution - Missense
SETXENSG00000107290ENST00000372169p.S213Fc.638C>TSubstitution - Missense
ZFP37ENSG00000136866ENST00000374227p.N161fs*24c.482delADeletion - Frameshift
PCLOENSG00000186472ENST00000333891p.A3583Vc.10748C>TSubstitution - Missense
SPDYE3ENSG00000214300ENST00000332397p.S418Sc.1254A>GSubstitution - coding silent
XM_371474.2p.R209Rc.627C>TSubstitution - coding silent
ENST00000505256p.E1507fs*28c.4512_4513delAGDeletion - Frameshift
AP3D1ENSG00000065000ENST00000345016p.R556Qc.1667G>ASubstitution - Missense
TNIKENSG00000154310ENST00000436636p.F1336fs*15c.4008delTDeletion - Frameshift
MAP3K6ENSG00000142733ENST00000374040p.F841fs*40c.2520_2521insCInsertion - Frameshift
PLEKHG2ENSG00000090924ENST00000409794p.R47fs*9c.134delCDeletion - Frameshift
PLA2G4EENSG00000188089ENST00000413860p.A39fs*14c.108_109delTGDeletion - Frameshift
FN1ENSG00000115414ENST00000336916p.R479Hc.1436G>ASubstitution - Missense
DPP10ENSG00000175497ENST00000410059p.I438fs*4c.1307delADeletion - Frameshift
STYK1ENSG00000060140ENST00000075503p.A405Vc.1214C>TSubstitution - Missense
KRT2ENSG00000172867ENST00000309680p.G65Sc.193G>ASubstitution - Missense
ADCK3ENSG00000163050ENST00000366779p.V397Mc.1189G>ASubstitution - Missense
ENST00000412131p.D1849Ec.5547C>ASubstitution - Missense
ENST00000224764p.Y14Hc.40T>CSubstitution - Missense
ITGA5ENSG00000161638ENST00000293379p.Y136Yc.408C>TSubstitution - coding silent
CCDC33ENSG00000140481ENST00000321288p.T868Tc.2604G>ASubstitution - coding silent
LDLRAD3ENSG00000179241ENST00000315571p.G254Dc.761G>ASubstitution - Missense
CTRCENSG00000162438ENST00000375949p.L220Lc.658C>TSubstitution - coding silent
DGKZENSG00000149091ENST00000395574p.L420Lc.1258C>TSubstitution - coding silent
PHF21AENSG00000135365ENST00000418153p.K433Ec.1297A>GSubstitution - Missense
FUT11ENSG00000196968ENST00000394790p.S464Sc.1392G>TSubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.E454Kc.1360G>ASubstitution - Missense
NM_018113.1p.R373Qc.1118G>ASubstitution - Missense
KCNH3ENSG00000135519ENST00000257981p.S430Sc.1290C>TSubstitution - coding silent
DDNENSG00000181418ENST00000421952p.Q118*c.352C>TSubstitution - Nonsense
NACAENSG00000196531ENST00000356769p.R86Wc.256C>TSubstitution - Missense
PSMB11ENSG00000222028ENST00000408907p.Q109Qc.327G>ASubstitution - coding silent
CEP170BENSG00000099814ENST00000556508p.A174Sc.520G>TSubstitution - Missense
AKAP13ENSG00000170776ENST00000361243p.A1208fs*5c.3619delGDeletion - Frameshift
RPS6KB2ENSG00000175634ENST00000312629p.P367Lc.1100C>TSubstitution - Missense
NXF1ENSG00000162231ENST00000294172p.R30Qc.89G>ASubstitution - Missense
TPP2ENSG00000134900ENST00000376065p.Q130Hc.390G>TSubstitution - Missense
NYNRINENSG00000205978ENST00000382554p.T160Nc.479C>ASubstitution - Missense
DUSP5ENSG00000138166ENST00000369583p.H262Hc.786C>TSubstitution - coding silent
TMEM180ENSG00000138111ENST00000238936p.Q436Hc.1308G>CSubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.P560Sc.1678C>TSubstitution - Missense
DNALI1ENSG00000163879ENST00000296218p.A93Vc.278C>TSubstitution - Missense
APPL2ENSG00000136044ENST00000258530p.Q189Qc.567G>ASubstitution - coding silent
ENST00000398860p.A1294Vc.3881C>TSubstitution - Missense
FRMD8ENSG00000126391ENST00000317568p.A8Ac.24C>ASubstitution - coding silent
CGP_EPHA10.1p.G766Dc.2297G>ASubstitution - Missense
ARHGAP30ENSG00000186517ENST00000368013p.A1088Tc.3262G>ASubstitution - Missense
MAP1AENSG00000166963ENST00000300231p.E1229*c.3685G>TSubstitution - Nonsense
MPZL2ENSG00000149573ENST00000278937p.?c.437-2A>GUnknown
ZC3H7AENSG00000122299ENST00000355758p.C98Cc.294C>TSubstitution - coding silent
FURINENSG00000140564ENST00000268171p.N558Kc.1674C>ASubstitution - Missense
CRTC3ENSG00000140577ENST00000268184p.K174Nc.522G>TSubstitution - Missense
C1QTNF8ENSG00000184471ENST00000328449p.?c.208+6G>CUnknown
MKNK2ENSG00000099875ENST00000250896p.L104Pc.311T>CSubstitution - Missense
STARD8ENSG00000130052ENST00000252336p.R321Rc.961C>ASubstitution - coding silent
GPRC6AENSG00000173612ENST00000310357p.H79Hc.237C>TSubstitution - coding silent
PCDH11XENSG00000102290ENST00000373094p.A1170Sc.3508G>TSubstitution - Missense
RAVER1ENSG00000161847ENST00000293677p.L402Lc.1204C>TSubstitution - coding silent
DSPENSG00000096696ENST00000379802p.?c.598-4G>AUnknown
LACE1ENSG00000135537ENST00000368977p.S124fs*22c.365delTDeletion - Frameshift
FAM227AENSG00000184949ENST00000355830p.R33Kc.98G>ASubstitution - Missense
FABP7ENSG00000164434ENST00000356535p.W9Lc.26G>TSubstitution - Missense
MYH9ENSG00000100345ENST00000216181p.D594Nc.1780G>ASubstitution - Missense
NM_002912.1p.V390Vc.1170G>ASubstitution - coding silent
ROS1ENSG00000047936ENST00000368508p.D2113Gc.6338A>GSubstitution - Missense
KIAA0922ENSG00000121210ENST00000409959p.S1008Sc.3024A>GSubstitution - coding silent
CEP120ENSG00000168944ENST00000306467p.A868Dc.2603C>ASubstitution - Missense
FRG1ENSG00000109536ENST00000226798p.E174Dc.522A>CSubstitution - Missense
STAT5BENSG00000173757ENST00000293328p.S722Sc.2166C>TSubstitution - coding silent
SARDHENSG00000123453ENST00000298628p.?c.814+5G>AUnknown
CAMTA2ENSG00000108509ENST00000348066p.?c.3005+1G>AUnknown
NPHS1ENSG00000161270ENST00000378910p.A658Vc.1973C>TSubstitution - Missense
NM_004440p.V235Lc.703G>CSubstitution - Missense
WDR49ENSG00000174776ENST00000308378p.I159Vc.475A>GSubstitution - Missense
MCM7ENSG00000166508ENST00000303887p.N529Yc.1585A>TSubstitution - Missense
OXR1ENSG00000164830ENST00000442977p.T570Mc.1709C>TSubstitution - Missense
ZNF300ENSG00000145908ENST00000394226p.C419Yc.1256G>ASubstitution - Missense
SLC4A9ENSG00000113073ENST00000506757p.R593Hc.1778G>ASubstitution - Missense
LST1ENSG00000204482ENST00000438075p.R43Mc.128G>TSubstitution - Missense
LTAENSG00000226979ENST00000454783p.Y110*c.330C>ASubstitution - Nonsense
C7orf43ENSG00000146826ENST00000316937p.L319Vc.955C>GSubstitution - Missense
VPREB3ENSG00000128218ENST00000248948p.T41Tc.123G>ASubstitution - coding silent
BCKDHAENSG00000248098ENST00000269980p.Y195Yc.585C>TSubstitution - coding silent
ARFGEF2ENSG00000124198ENST00000371917p.Q998Qc.2994G>ASubstitution - coding silent
NBASENSG00000151779ENST00000281513p.?c.1341+10T>CUnknown
BLOC1S4ENSG00000186222ENST00000320776p.F170fs*8c.507delGDeletion - Frameshift
JPH2ENSG00000149596ENST00000372980p.A260Ac.780C>TSubstitution - coding silent
TECRLENSG00000205678ENST00000381210p.?c.435+6T>CUnknown
NM_017760.4p.?c.2214+4G>TUnknown
PRPS1L1ENSG00000229937ENST00000506618p.S8Sc.24C>TSubstitution - coding silent
ENST00000316490p.?c.261+7G>AUnknown
PKD1ENSG00000008710ENST00000262304p.S1121Sc.3363C>TSubstitution - coding silent
RFX1ENSG00000132005ENST00000254325p.A80Vc.239C>TSubstitution - Missense
ENST00000319396p.K2071Kc.6213G>ASubstitution - coding silent
RHOT2ENSG00000140983ENST00000315082p.L595Lc.1785G>TSubstitution - coding silent
KIAA0947ENSG00000164151ENST00000296564p.A1035Vc.3104C>TSubstitution - Missense
HPGDENSG00000164120ENST00000296522p.T162Ac.484A>GSubstitution - Missense
VWA7ENSG00000204396ENST00000375688p.P839Sc.2515C>TSubstitution - Missense
ENST00000446948p.T127Mc.380C>TSubstitution - Missense
WIZENSG00000011451ENST00000389282p.R14Lc.41G>TSubstitution - Missense
NUP214ENSG00000126883ENST00000359428p.Q1689*c.5065C>TSubstitution - Nonsense
SCN7AENSG00000136546ENST00000409855p.T1055Tc.3165C>TSubstitution - coding silent
KNG1ENSG00000113889ENST00000287611p.G374Vc.1121G>TSubstitution - Missense
C9orf117ENSG00000160401ENST00000373295p.A304Vc.911C>TSubstitution - Missense
STRN4ENSG00000090372ENST00000391910p.R449Cc.1345C>TSubstitution - Missense
TRAF1ENSG00000056558ENST00000373887p.?c.1033-4G>AUnknown
ZNF618ENSG00000157657ENST00000288466p.S657Nc.1970G>ASubstitution - Missense
NAA16ENSG00000172766ENST00000403412p.D112Yc.334G>TSubstitution - Missense
CTNND1ENSG00000198561ENST00000361391p.E766Kc.2296G>ASubstitution - Missense
CRTAMENSG00000109943ENST00000533709p.Y134Sc.401A>CSubstitution - Missense
NCSTNENSG00000162736ENST00000438008p.L130Lc.388C>TSubstitution - coding silent
SPRR3ENSG00000163209ENST00000295367p.E71Dc.213G>TSubstitution - Missense
NBEAENSG00000172915ENST00000400445p.S1193Ic.3578G>TSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.C4878Cc.14634T>CSubstitution - coding silent
PITPNM2ENSG00000090975ENST00000280562p.Q523fs*9c.1567delCDeletion - Frameshift
ENST00000326873_v70p.K175Mc.524A>TSubstitution - Missense
ATP13A1ENSG00000105726ENST00000291503p.T651Mc.1952C>TSubstitution - Missense
C17orf59ENSG00000196544ENST00000389017p.P116Pc.348C>GSubstitution - coding silent
RGS9ENSG00000108370ENST00000262406p.T105Rc.314C>GSubstitution - Missense
GRM7ENSG00000196277ENST00000389335p.I847Ic.2541C>TSubstitution - coding silent
ENST00000357018p.G851Sc.2551G>ASubstitution - Missense
ASAP2ENSG00000151693ENST00000281419p.E16Dc.48G>TSubstitution - Missense
SIRT7ENSG00000187531ENST00000328666p.G384fs*16c.1151delGDeletion - Frameshift
MST1RENSG00000164078ENST00000296474p.P115Pc.345C>ASubstitution - coding silent
RHPN1ENSG00000158106ENST00000289013p.T200Ic.599C>TSubstitution - Missense
AGKENSG00000006530ENST00000355413p.T310Ic.929C>TSubstitution - Missense
KIF25ENSG00000125337ENST00000354419p.R147Cc.439C>TSubstitution - Missense
BSNENSG00000164061ENST00000296452p.D861Nc.2581G>ASubstitution - Missense
DIP2AENSG00000160305ENST00000417564p.L220Lc.660G>ASubstitution - coding silent
ENST00000353957p.L40Lc.118T>CSubstitution - coding silent
KIAA1211LENSG00000196872ENST00000397899p.P441Pc.1323G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.G31637Dc.94910G>ASubstitution - Missense
EWSR1ENSG00000182944ENST00000414183p.Q15*c.43C>TSubstitution - Nonsense
MYH8ENSG00000133020ENST00000403437p.T1028Tc.3084C>TSubstitution - coding silent
CDT1ENSG00000167513ENST00000301019p.Q285fs*33c.848delCDeletion - Frameshift
CTU2ENSG00000174177ENST00000453996p.K373Nc.1119G>TSubstitution - Missense
ENST00000378416p.S130Lc.389C>TSubstitution - Missense
DDIT4LENSG00000145358ENST00000273990p.R159Cc.475C>TSubstitution - Missense
IL17REENSG00000163701ENST00000383814p.V404fs*15c.1204delCDeletion - Frameshift
ZMAT5ENSG00000100319ENST00000344318p.V141Mc.421G>ASubstitution - Missense
KCNQ2ENSG00000075043ENST00000354587p.R461Cc.1381C>TSubstitution - Missense
RBM10ENSG00000182872ENST00000377604p.L484Lc.1450C>TSubstitution - coding silent
HGSNATENSG00000165102ENST00000458501p.W661fs*>3c.1976delTDeletion - Frameshift
C3orf35ENSG00000198590ENST00000328376p.E18Ec.54A>GSubstitution - coding silent
EXOGENSG00000157036ENST00000287675p.S268Nc.803G>ASubstitution - Missense
RAB37ENSG00000172794ENST00000402449p.P49Pc.147C>TSubstitution - coding silent
ZNF543ENSG00000178229ENST00000321545p.R154Hc.461G>ASubstitution - Missense
ACAP1ENSG00000072818ENST00000158762p.Q150Qc.450G>ASubstitution - coding silent
SLC12A4ENSG00000124067ENST00000316341p.?c.544+10C>TUnknown
SLC12A4ENSG00000124067ENST00000316341p.L941Lc.2821C>TSubstitution - coding silent
SCN5AENSG00000183873ENST00000333535p.V294Mc.880G>ASubstitution - Missense
MED12LENSG00000144893ENST00000474524p.Q1905*c.5713C>TSubstitution - Nonsense
ZBTB2ENSG00000181472ENST00000325144p.R266Qc.797G>ASubstitution - Missense
AMZ1ENSG00000174945ENST00000312371p.S460Sc.1380C>TSubstitution - coding silent
HECAENSG00000112406ENST00000367658p.C447Cc.1341C>TSubstitution - coding silent
PDZD2ENSG00000133401ENST00000282493p.E633Kc.1897G>ASubstitution - Missense
KCNJ13ENSG00000115474ENST00000233826p.R18Qc.53G>ASubstitution - Missense
WDR33ENSG00000136709ENST00000322313p.R1115Rc.3345T>CSubstitution - coding silent
FAM50AENSG00000071859ENST00000393600p.R115Wc.343C>TSubstitution - Missense
C6orf99ENSG00000203711ENST00000367073p.Q184*c.550C>TSubstitution - Nonsense
FNDC1ENSG00000164694ENST00000297267p.S686Fc.2057C>TSubstitution - Missense
C2orf42ENSG00000115998ENST00000264434p.Q263Qc.789G>ASubstitution - coding silent
ENST00000358511_v70p.Q1874Ec.5620C>GSubstitution - Missense
PROCENSG00000115718ENST00000234071p.R194Hc.581G>ASubstitution - Missense
ATXN2LENSG00000168488ENST00000336783p.P928Lc.2783C>TSubstitution - Missense
FLYWCH1ENSG00000059122ENST00000416288p.G56Gc.168A>GSubstitution - coding silent
PRR14ENSG00000156858ENST00000300835p.T346Nc.1037C>ASubstitution - Missense
ORAI3ENSG00000175938ENST00000318663p.S72Lc.215C>TSubstitution - Missense
ENTPD2ENSG00000054179ENST00000355097p.A430Tc.1288G>ASubstitution - Missense
GIGYF1ENSG00000146830ENST00000275732p.A753Tc.2257G>ASubstitution - Missense
UBR2ENSG00000024048ENST00000372903p.T198Mc.593C>TSubstitution - Missense
PRKAR1BENSG00000188191ENST00000360274p.N88fs*56c.260_261insCInsertion - Frameshift
DPH7ENSG00000148399ENST00000277540p.L276Fc.828G>TSubstitution - Missense
ZDHHC21ENSG00000175893ENST00000380916p.M190Ic.570G>ASubstitution - Missense
GRK7ENSG00000114124ENST00000264952p.T112Ic.335C>TSubstitution - Missense
SH2B1ENSG00000178188ENST00000359285p.R475fs*68c.1417delCDeletion - Frameshift
ADCY2ENSG00000078295ENST00000537121p.D607Nc.1819G>ASubstitution - Missense
DENND6BENSG00000205593ENST00000413817p.P195Pc.585G>TSubstitution - coding silent
COL7A1ENSG00000114270ENST00000328333p.P456Lc.1367C>TSubstitution - Missense
UQCRC1ENSG00000010256ENST00000203407p.L379Lc.1137G>ASubstitution - coding silent
TUBB4BENSG00000188229ENST00000340384p.F92Lc.276C>ASubstitution - Missense
OR5A1ENSG00000172320ENST00000302030p.T243Tc.729G>ASubstitution - coding silent
PPP1R13BENSG00000088808ENST00000202556p.G41Gc.123C>TSubstitution - coding silent
MYH7ENSG00000092054ENST00000355349p.I157Vc.469A>GSubstitution - Missense
MYOM3ENSG00000142661ENST00000374434p.V139Vc.417C>TSubstitution - coding silent
SUFUENSG00000107882ENST00000369902p.?c.182+5G>AUnknown
TACC2ENSG00000138162ENST00000369005p.P1186Hc.3557C>ASubstitution - Missense
ASRGL1ENSG00000162174ENST00000301776p.S269Nc.806G>ASubstitution - Missense
CCDC27ENSG00000162592ENST00000294600p.F197Fc.591C>TSubstitution - coding silent
CEP57ENSG00000166037ENST00000325542p.L496Fc.1488G>CSubstitution - Missense
ENST00000340134_v70p.P8Pc.24G>ASubstitution - coding silent
HCRTR1ENSG00000121764ENST00000373706p.L137Lc.411C>GSubstitution - coding silent
TRIM62ENSG00000116525ENST00000291416p.L341Lc.1021C>TSubstitution - coding silent
SCYL1ENSG00000142186ENST00000270176p.N420Nc.1260C>TSubstitution - coding silent
EHD1ENSG00000110047ENST00000359393p.R123Hc.368G>ASubstitution - Missense
CRTC3ENSG00000140577ENST00000268184p.F483Lc.1449T>ASubstitution - Missense
MKL2ENSG00000186260ENST00000318282p.R572Hc.1715G>ASubstitution - Missense
CITENSG00000122966ENST00000261833p.R1296Hc.3887G>ASubstitution - Missense
OLFML3ENSG00000116774ENST00000320334p.L12fs*38c.32_33insCInsertion - Frameshift
LEPRE1ENSG00000117385ENST00000236040p.H205Hc.615T>CSubstitution - coding silent
LUZP2ENSG00000187398ENST00000336930p.Q257Rc.770A>GSubstitution - Missense
ATHL1ENSG00000142102ENST00000409548p.L672Lc.2016G>ASubstitution - coding silent
BAIAP3ENSG00000007516ENST00000324385p.S167Nc.500G>ASubstitution - Missense
GPATCH2LENSG00000089916ENST00000312858p.T197Ic.590C>TSubstitution - Missense
YLPM1ENSG00000119596ENST00000325680p.R1713Lc.5138G>TSubstitution - Missense
GDF2ENSG00000128802ENST00000249598p.H300Yc.898C>TSubstitution - Missense
TPSD1ENSG00000095917ENST00000211076p.G166Gc.498C>TSubstitution - coding silent
SHISA9ENSG00000237515ENST00000558583p.K390*c.1168A>TSubstitution - Nonsense
AKR1C4ENSG00000198610ENST00000380448p.E36Ec.108G>ASubstitution - coding silent
CLEC16AENSG00000038532ENST00000409552p.R868Hc.2603G>ASubstitution - Missense
PTPRCENSG00000081237ENST00000442510p.?c.653-9C>TUnknown
LAG3ENSG00000089692ENST00000203629p.A349Tc.1045G>ASubstitution - Missense
GNB3ENSG00000111664ENST00000229264p.R49Wc.145C>TSubstitution - Missense
SEC16BENSG00000120341ENST00000308284p.F738Lc.2212T>CSubstitution - Missense
PAX7ENSG00000009709ENST00000420770p.Q262*c.784C>TSubstitution - Nonsense
FLG2ENSG00000143520ENST00000388718p.G420Vc.1259G>TSubstitution - Missense
SHC4ENSG00000185634ENST00000332408p.G231Rc.691G>CSubstitution - Missense
NOX4ENSG00000086991ENST00000263317p.T94Ic.281C>TSubstitution - Missense
PIDDENSG00000177595ENST00000347755p.S527fs*90c.1578delCDeletion - Frameshift
MROH7ENSG00000184313ENST00000421030p.L964Ic.2890C>ASubstitution - Missense
DENND4BENSG00000198837ENST00000361217p.E522Kc.1564G>ASubstitution - Missense
VPS13CENSG00000129003ENST00000395896p.V939Ac.2816T>CSubstitution - Missense
VPS13CENSG00000129003ENST00000261517p.?c.9888+1G>AUnknown
LGMNENSG00000100600ENST00000334869p.H376fs*27c.1126delCDeletion - Frameshift
DIS3LENSG00000166938ENST00000319212p.I696Ic.2088C>TSubstitution - coding silent
DOCK7ENSG00000116641ENST00000340370p.M363Vc.1087A>GSubstitution - Missense
SLC25A47ENSG00000140107ENST00000361529p.S183*c.548C>ASubstitution - Nonsense
ENST00000318301p.R734Cc.2200C>TSubstitution - Missense
TASP1ENSG00000089123ENST00000337743p.A88Tc.262G>ASubstitution - Missense
RALGAPA2ENSG00000188559ENST00000202677p.A298Vc.893C>TSubstitution - Missense
SPATA32ENSG00000184361ENST00000331780p.A184Vc.551C>TSubstitution - Missense
SRSF11ENSG00000116754ENST00000370950p.D383Dc.1149C>TSubstitution - coding silent
AUNIPENSG00000127423ENST00000374298p.T124Nc.371C>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.E1948Dc.5844G>CSubstitution - Missense
LRRC8EENSG00000171017ENST00000306708p.Q258*c.772C>TSubstitution - Nonsense
CELF5ENSG00000161082ENST00000292672p.A124Vc.371C>TSubstitution - Missense
ITGB4ENSG00000132470ENST00000339591p.S19Sc.57C>TSubstitution - coding silent
EVPLENSG00000167880ENST00000301607p.R1195Hc.3584G>ASubstitution - Missense
FLNCENSG00000128591ENST00000325888p.V292Mc.874G>ASubstitution - Missense
ZNF341ENSG00000131061ENST00000342427p.P207fs*40c.615delCDeletion - Frameshift
FAM160B2ENSG00000158863ENST00000289921p.L116Qc.347T>ASubstitution - Missense
SMCHD1ENSG00000101596ENST00000261598p.P844Pc.2532T>CSubstitution - coding silent
NM_031968.1p.R163Cc.487C>TSubstitution - Missense
NOL4ENSG00000101746ENST00000261592p.M202Ic.606G>ASubstitution - Missense
ABCA7ENSG00000064687ENST00000263094p.P1341Lc.4022C>TSubstitution - Missense
SPTAN1ENSG00000197694ENST00000372731p.?c.5978-10C>TUnknown
CDK9ENSG00000136807ENST00000373264p.F336Lc.1008C>GSubstitution - Missense
WDR34ENSG00000119333ENST00000372715p.A91Sc.271G>TSubstitution - Missense
WWC1ENSG00000113645ENST00000265293p.R972Wc.2914C>TSubstitution - Missense
DOCK1ENSG00000150760ENST00000280333p.R104Rc.312G>ASubstitution - coding silent
KBTBD4ENSG00000123444ENST00000430070p.E402fs*27c.1204delGDeletion - Frameshift
MAST4ENSG00000069020ENST00000403666p.R1340Rc.4020C>TSubstitution - coding silent
ASTN2ENSG00000148219ENST00000313400p.R1282Wc.3844C>TSubstitution - Missense
TGENSG00000042832ENST00000220616p.V2689Ic.8065G>ASubstitution - Missense
MEGF9ENSG00000106780ENST00000426959p.N242Yc.724A>TSubstitution - Missense
ANKS1BENSG00000185046ENST00000332712p.S249Sc.747G>TSubstitution - coding silent
HHATENSG00000054392ENST00000391905p.H32Yc.94C>TSubstitution - Missense
MROH7ENSG00000184313ENST00000339553p.L964Ic.2890C>ASubstitution - Missense
ARHGEF2ENSG00000116584ENST00000361247p.C282Sc.844T>ASubstitution - Missense
ABCB6ENSG00000115657ENST00000265316p.V657Vc.1971G>ASubstitution - coding silent
RORAENSG00000069667ENST00000449337p.C356Yc.1067G>ASubstitution - Missense
ATXN3ENSG00000066427ENST00000429774p.F5Fc.15C>TSubstitution - coding silent
EDEM2ENSG00000088298ENST00000540582p.A355Vc.1064C>TSubstitution - Missense
MYO19ENSG00000141140ENST00000586007p.A68Tc.202G>ASubstitution - Missense
PDE4AENSG00000065989ENST00000380702p.L383Vc.1147C>GSubstitution - Missense
AP1B1ENSG00000100280ENST00000415447p.N781Kc.2343C>ASubstitution - Missense
PHACTR1ENSG00000112137ENST00000406205p.V99Mc.295G>ASubstitution - Missense
ENST00000539533_v68p.S562Sc.1686G>ASubstitution - coding silent
HDAC6ENSG00000094631ENST00000413163p.P51Pc.153G>ASubstitution - coding silent
SLC28A3ENSG00000197506ENST00000376238p.R154*c.460C>TSubstitution - Nonsense
GPR139ENSG00000180269ENST00000570682p.A228Tc.682G>ASubstitution - Missense
RPL22ENSG00000116251ENST00000234875p.K15fs*5c.44delADeletion - Frameshift
ENST00000534231p.R266Cc.796C>TSubstitution - Missense
MYO6ENSG00000196586ENST00000369977p.D1031Yc.3091G>TSubstitution - Missense
WDR55ENSG00000120314ENST00000358337p.K341fs*8c.1015delADeletion - Frameshift
OR4A15ENSG00000181958ENST00000314706p.N35Sc.104A>GSubstitution - Missense
ATAD5ENSG00000176208ENST00000321990p.F1193fs*6c.3573delTDeletion - Frameshift
API5ENSG00000166181ENST00000531273p.C263Yc.788G>ASubstitution - Missense
CCDC112ENSG00000164221ENST00000379611p.P485Lc.1454C>TSubstitution - Missense
SBF1ENSG00000100241ENST00000390679p.P1106Pc.3318G>ASubstitution - coding silent
FRAS1ENSG00000138759ENST00000264895p.D3417Nc.10249G>ASubstitution - Missense
DZIP1ENSG00000134874ENST00000361396p.?c.1110+7G>AUnknown
CAPN8ENSG00000203697ENST00000366872p.?c.1963+7C>TUnknown
TMEM63AENSG00000196187ENST00000366835p.E223Kc.667G>ASubstitution - Missense
THSD1ENSG00000136114ENST00000258613p.Q661*c.1981C>TSubstitution - Nonsense
TBC1D4ENSG00000136111ENST00000377636p.Y1083Nc.3247T>ASubstitution - Missense
CAMK2GENSG00000148660ENST00000322680p.?c.414+9C>TUnknown
RBMS2ENSG00000076067ENST00000262031p.T93Ic.278C>TSubstitution - Missense
SEMA7AENSG00000138623ENST00000261918p.A106Tc.316G>ASubstitution - Missense
PSTPIP1ENSG00000140368ENST00000558012p.R223Rc.669G>ASubstitution - coding silent
HOXC6ENSG00000197757ENST00000243108p.Q127*c.379C>TSubstitution - Nonsense
KRT2ENSG00000172867ENST00000309680p.R45Cc.133C>TSubstitution - Missense
CELF1ENSG00000149187ENST00000358597p.Q466Hc.1398G>TSubstitution - Missense
CDK11BENSG00000248333ENST00000407249p.W592Rc.1774T>ASubstitution - Missense
ENST00000371426p.K247fs*52c.741delADeletion - Frameshift
NM_000770.2p.T66Tc.198C>TSubstitution - coding silent
ENST00000279593p.C849*c.2547C>ASubstitution - Nonsense
POLEENSG00000177084ENST00000320574p.C1076Cc.3228C>TSubstitution - coding silent
DDNENSG00000181418ENST00000421952p.A188Ac.564G>ASubstitution - coding silent
PCK2ENSG00000100889ENST00000216780p.R45*c.133C>TSubstitution - Nonsense
NUMA1ENSG00000137497ENST00000393695p.Q336Kc.1006C>ASubstitution - Missense
AKAP13ENSG00000170776ENST00000394518p.A1208fs*5c.3619delGDeletion - Frameshift
ALPK3ENSG00000136383ENST00000258888p.R1366Qc.4097G>ASubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.V2356Mc.7066G>ASubstitution - Missense
KRT7ENSG00000135480ENST00000331817p.G150fs*48c.446delGDeletion - Frameshift
GOLGA3ENSG00000090615ENST00000545875p.L754Lc.2260C>TSubstitution - coding silent
NM_018113.1p.E85Kc.253G>ASubstitution - Missense
NM_001004342.2p.T531Tc.1593G>ASubstitution - coding silent
CTSGENSG00000100448ENST00000216336p.P225Lc.674C>TSubstitution - Missense
MORC2ENSG00000133422ENST00000397641p.P731Pc.2193G>ASubstitution - coding silent
WDFY3ENSG00000163625ENST00000295888p.L1842fs*52c.5522_5523insTInsertion - Frameshift
TRANK1ENSG00000168016ENST00000428977p.Y368Hc.1102T>CSubstitution - Missense
ZNF324ENSG00000083812ENST00000196482p.S357Nc.1070G>ASubstitution - Missense
FAM65AENSG00000039523ENST00000379312p.R950Rc.2848C>ASubstitution - coding silent
FAM65AENSG00000039523ENST00000042381p.R946Rc.2836C>ASubstitution - coding silent
EDC4ENSG00000038358ENST00000358933p.L811Lc.2431C>TSubstitution - coding silent
LPAENSG00000198670ENST00000316300p.W1419*c.4257G>ASubstitution - Nonsense
NHSL1ENSG00000135540ENST00000343505p.D1185Nc.3553G>ASubstitution - Missense
NHSL1ENSG00000135540ENST00000342260p.D1189Nc.3565G>ASubstitution - Missense
ENST00000237309p.L44Ic.130C>ASubstitution - Missense
CD36ENSG00000135218ENST00000394788p.V263fs*16c.786_807del22Deletion - Frameshift
COL4A4ENSG00000081052ENST00000396625p.P354Sc.1060C>TSubstitution - Missense
STK36ENSG00000163482ENST00000295709p.S605Yc.1814C>ASubstitution - Missense
IRS1ENSG00000169047ENST00000305123p.P931Lc.2792C>TSubstitution - Missense
NEU2ENSG00000115488ENST00000233840p.R140fs*93c.413delCDeletion - Frameshift
ENST00000272666p.D576Nc.1726G>ASubstitution - Missense
CHRNGENSG00000196811ENST00000389494p.V367Vc.1101G>ASubstitution - coding silent
TFR2ENSG00000106327ENST00000223051p.Y426Yc.1278C>TSubstitution - coding silent
ARHGAP25ENSG00000163219ENST00000409220p.S395Tc.1184G>CSubstitution - Missense
PKDREJENSG00000130943ENST00000253255p.Q1741Qc.5223G>ASubstitution - coding silent
PRRT2ENSG00000167371ENST00000358758p.R217fs*7c.641_642delCCDeletion - Frameshift
ENST00000300996p.?c.130+2T>CUnknown
ATP8B3ENSG00000130270ENST00000539485p.S147Sc.441G>ASubstitution - coding silent
KXD1ENSG00000105700ENST00000540691p.L56Lc.168G>ASubstitution - coding silent
MED12ENSG00000184634ENST00000374080p.R295Hc.884G>ASubstitution - Missense
KIAA1683ENSG00000130518ENST00000392413p.A1109Vc.3326C>TSubstitution - Missense
ATP13A1ENSG00000105726ENST00000357324p.T769Mc.2306C>TSubstitution - Missense
ATP9BENSG00000166377ENST00000307671p.V349Ic.1045G>ASubstitution - Missense
KIAA0368ENSG00000136813ENST00000259335p.E724Ec.2172G>ASubstitution - coding silent
NAGLUENSG00000108784ENST00000225927p.G425*c.1273G>TSubstitution - Nonsense
PSMC3IPENSG00000131470ENST00000253789p.?c.562-3C>TUnknown
NFKBIDENSG00000167604ENST00000340950p.R35Hc.104G>ASubstitution - Missense
NFKBIDENSG00000167604ENST00000352614p.S120Nc.359G>ASubstitution - Missense
TRIOENSG00000038382ENST00000344204p.V706Vc.2118G>ASubstitution - coding silent
PDGFRBENSG00000113721ENST00000261799p.N244Dc.730A>GSubstitution - Missense
NOTCH1ENSG00000148400ENST00000277541p.S2523*c.7568C>ASubstitution - Nonsense
NTNG2ENSG00000196358ENST00000372179p.T393Nc.1178C>ASubstitution - Missense
FUT9ENSG00000172461ENST00000302103p.C16Cc.48C>TSubstitution - coding silent
ZNF292ENSG00000188994ENST00000339907p.T1284Ac.3850A>GSubstitution - Missense
UBE2J1ENSG00000198833ENST00000435041p.R305*c.913C>TSubstitution - Nonsense
WDR87ENSG00000171804ENST00000447313p.Q2618Kc.7852C>ASubstitution - Missense
PCDHAC1ENSG00000248383ENST00000253807p.H336Yc.1006C>TSubstitution - Missense
ANXA6ENSG00000197043ENST00000356496p.A60Vc.179C>TSubstitution - Missense
MFAP3ENSG00000037749ENST00000322602p.C5Yc.14G>ASubstitution - Missense
SPATA24ENSG00000170469ENST00000302091p.L95Lc.285G>ASubstitution - coding silent
PNMA3ENSG00000183837ENST00000447306p.N107Sc.320A>GSubstitution - Missense
DDX19AENSG00000168872ENST00000302243p.E365Ec.1095G>ASubstitution - coding silent
PDPRENSG00000090857ENST00000288050p.T530Ic.1589C>TSubstitution - Missense
GPC2ENSG00000213420ENST00000292377p.D292Dc.876C>TSubstitution - coding silent
ENST00000310771p.R132Qc.395G>ASubstitution - Missense
OXR1ENSG00000164830ENST00000442977p.Y740Cc.2219A>GSubstitution - Missense
ENST00000312046_v70p.Y705Cc.2114A>GSubstitution - Missense
MAP2K2ENSG00000126934ENST00000262948p.L37Lc.111G>ASubstitution - coding silent
WISP2ENSG00000064205ENST00000372868p.R149fs*>102c.441delCDeletion - Frameshift
EPHA5ENSG00000145242ENST00000273854p.S940Rc.2818A>CSubstitution - Missense
SPATA18ENSG00000163071ENST00000295213p.R298Cc.892C>TSubstitution - Missense
FAM83DENSG00000101447ENST00000217429p.L376Lc.1128G>TSubstitution - coding silent
MEGF8ENSG00000105429ENST00000251268p.R1848Hc.5543G>ASubstitution - Missense
NEBENSG00000183091ENST00000427231p.P6945Sc.20833C>TSubstitution - Missense
ENST00000491552p.S188Nc.563G>ASubstitution - Missense
F12ENSG00000131187ENST00000253496p.P535Pc.1605G>TSubstitution - coding silent
SLC34A1ENSG00000131183ENST00000324417p.A207Vc.620C>TSubstitution - Missense
POLHENSG00000170734ENST00000372236p.P572Lc.1715C>TSubstitution - Missense
CHD7ENSG00000171316ENST00000423902p.R1677*c.5029C>TSubstitution - Nonsense
LLGL1ENSG00000131899ENST00000316843p.V723Mc.2167G>ASubstitution - Missense
XM_290732.4p.S1027Nc.3080G>ASubstitution - Missense
TRPM4ENSG00000130529ENST00000252826p.?c.1150+1G>TUnknown
ENST00000215531_v68p.T128fs*>3c.383delCDeletion - Frameshift
ENST00000246798p.Y1147Yc.3441C>TSubstitution - coding silent
SLC17A7ENSG00000104888ENST00000221485p.E6fs*88c.16_17insGInsertion - Frameshift
VSIG1ENSG00000101842ENST00000415430p.?c.213+1G>AUnknown
TK1ENSG00000167900ENST00000301634p.C109Cc.327C>TSubstitution - coding silent
GALTENSG00000213930ENST00000378842p.?c.83-6C>AUnknown
PLXNA4ENSG00000221866ENST00000321063p.A1549Vc.4646C>TSubstitution - Missense
FAM221BENSG00000204930ENST00000423537p.A240Vc.719C>TSubstitution - Missense
FAM221BENSG00000204930ENST00000388950p.A240Vc.719C>TSubstitution - Missense
PHACTR3ENSG00000087495ENST00000371015p.A356Tc.1066G>ASubstitution - Missense
RBM39ENSG00000131051ENST00000253363p.R346Mc.1037G>TSubstitution - Missense
WNT5AENSG00000114251ENST00000264634p.I186Ic.558C>TSubstitution - coding silent
CACNA1DENSG00000157388ENST00000288139p.D1921Nc.5761G>ASubstitution - Missense
PTPRGENSG00000144724ENST00000474889p.S745Sc.2235A>TSubstitution - coding silent
ACO1ENSG00000122729ENST00000309951p.C437Yc.1310G>ASubstitution - Missense
ACTG1ENSG00000184009ENST00000331925p.F262Fc.786C>TSubstitution - coding silent
TYK2ENSG00000105397ENST00000525621p.?c.1011+5G>AUnknown
C17orf59ENSG00000196544ENST00000389017p.A97fs*76c.289delGDeletion - Frameshift
SLC25A52ENSG00000141437ENST00000579441p.I257fs*9c.769delADeletion - Frameshift
DHRS13ENSG00000167536ENST00000378895p.?c.127+7G>TUnknown
SSH2ENSG00000141298ENST00000269033p.G1229fs*3c.3684delCDeletion - Frameshift
GIT1ENSG00000108262ENST00000394869p.L376Pc.1127T>CSubstitution - Missense
MNTENSG00000070444ENST00000174618p.P414Pc.1242C>TSubstitution - coding silent
SLC37A1ENSG00000160190ENST00000352133p.A22Vc.65C>TSubstitution - Missense
FARSAENSG00000179115ENST00000314606p.T365Tc.1095G>ASubstitution - coding silent
SLC44A2ENSG00000129353ENST00000335757p.A317Ac.951C>TSubstitution - coding silent
TEX19ENSG00000182459ENST00000333437p.E137Kc.409G>ASubstitution - Missense
SMCHD1ENSG00000101596ENST00000261598p.P292Pc.876T>CSubstitution - coding silent
TNPO2ENSG00000105576ENST00000441499p.A810Tc.2428G>ASubstitution - Missense
P4HBENSG00000185624ENST00000331483p.V504Mc.1510G>ASubstitution - Missense
TBCDENSG00000141556ENST00000355528p.S240Yc.719C>ASubstitution - Missense
PPLENSG00000118898ENST00000345988p.Q990fs*31c.2967delGDeletion - Frameshift
ENST00000340816p.E83Kc.247G>ASubstitution - Missense
UBE2G2ENSG00000184787ENST00000345496p.A107Vc.320C>TSubstitution - Missense
PBRM1ENSG00000163939ENST00000296302p.E226Gc.677A>GSubstitution - Missense
CDHR4ENSG00000187492ENST00000412678p.V145Ic.433G>ASubstitution - Missense
TWF2ENSG00000247596ENST00000305533p.T104Tc.312G>ASubstitution - coding silent
ATP2A3ENSG00000074370ENST00000352011p.G702Gc.2106C>TSubstitution - coding silent
ZZEF1ENSG00000074755ENST00000381638p.G2840Gc.8520C>TSubstitution - coding silent
DOPEY2ENSG00000142197ENST00000399151p.R1401Cc.4201C>TSubstitution - Missense
RFC1ENSG00000035928ENST00000381897p.R49Hc.146G>ASubstitution - Missense
SONENSG00000159140ENST00000300278p.G1319Rc.3955G>ASubstitution - Missense
C4orf19ENSG00000154274ENST00000381980p.K63Nc.189G>TSubstitution - Missense
EPPK1ENSG00000227184ENST00000525985p.V2348Ic.7042G>ASubstitution - Missense
TONSLENSG00000160949ENST00000409379p.Q447*c.1339C>TSubstitution - Nonsense
CDK6ENSG00000105810ENST00000265734p.L33Vc.97T>GSubstitution - Missense
TONSLENSG00000160949ENST00000409379p.H218Yc.652C>TSubstitution - Missense
CYHR1ENSG00000187954ENST00000438911p.H319Qc.957C>ASubstitution - Missense
SEMA3GENSG00000010319ENST00000231721p.T147Ic.440C>TSubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.N3487Nc.10461C>TSubstitution - coding silent
CAMKVENSG00000164076ENST00000477224p.N69Kc.207C>ASubstitution - Missense
ROCK1ENSG00000067900ENST00000399799p.E487Ec.1461G>ASubstitution - coding silent
ABI3BPENSG00000154175ENST00000471714p.?c.5219-4T>CUnknown
HOXD3ENSG00000128652ENST00000249440p.K174Nc.522G>TSubstitution - Missense
MYH2ENSG00000125414ENST00000245503p.I593Nc.1778T>ASubstitution - Missense
ZNF534ENSG00000198633ENST00000301085p.G118Sc.352G>ASubstitution - Missense
FANCAENSG00000187741ENST00000389301p.A205Tc.613G>ASubstitution - Missense
DNMT3AENSG00000119772ENST00000380746p.E253*c.757G>TSubstitution - Nonsense
SFI1ENSG00000198089ENST00000400288p.V299Vc.897C>TSubstitution - coding silent
EWSR1ENSG00000182944ENST00000333395p.Q256*c.766C>TSubstitution - Nonsense
TMEM223ENSG00000168569ENST00000307366p.D181Ec.543C>ASubstitution - Missense
TMEM223ENSG00000168569ENST00000307366p.R175Hc.524G>ASubstitution - Missense
KDM2AENSG00000173120ENST00000529006p.L458Fc.1372C>TSubstitution - Missense
AHNAKENSG00000124942ENST00000378024p.M3937Ic.11811G>ASubstitution - Missense
SLC25A3ENSG00000075415ENST00000551917p.Q98fs*103c.288delCDeletion - Frameshift
PHRF1ENSG00000070047ENST00000416188p.S1228Sc.3684G>ASubstitution - coding silent
CD5ENSG00000110448ENST00000347785p.D54Nc.160G>ASubstitution - Missense
ENST00000373484_v70p.A468Tc.1402G>ASubstitution - Missense
TXNRD1ENSG00000198431ENST00000378070p.P513Sc.1537C>TSubstitution - Missense
KIF21AENSG00000139116ENST00000361961p.V1337Mc.4009G>ASubstitution - Missense
MUC19ENSG00000205592ENST00000425730p.K52fs*126c.148delADeletion - Frameshift
GPR12ENSG00000132975ENST00000381436p.P175Tc.523C>ASubstitution - Missense
ENO4ENSG00000188316ENST00000341276p.Y587fs*31c.1752delTDeletion - Frameshift
MKRN3ENSG00000179455ENST00000314520p.A280Tc.838G>ASubstitution - Missense
RFC3ENSG00000133119ENST00000380071p.A312Vc.935C>TSubstitution - Missense
RARRES3ENSG00000133321ENST00000255688p.R64Cc.190C>TSubstitution - Missense
MEN1ENSG00000133895ENST00000312049p.G532Gc.1596C>TSubstitution - coding silent
ENST00000312452p.Y516Yc.1548C>TSubstitution - coding silent
NM_005825.2p.R517Hc.1550G>ASubstitution - Missense
SPAG17ENSG00000155761ENST00000336338p.Q1290Qc.3870A>GSubstitution - coding silent
FAM63AENSG00000143409ENST00000361936p.G254Gc.762G>ASubstitution - coding silent
CAPN3ENSG00000092529ENST00000356316p.C327Yc.980G>ASubstitution - Missense
PAMR1ENSG00000149090ENST00000278360p.C69Cc.207C>TSubstitution - coding silent
ENSG00000234719ENST00000399147p.S292Sc.876A>GSubstitution - coding silent
CACNA1HENSG00000196557ENST00000358590p.R1886Cc.5656C>TSubstitution - Missense
LMF1ENSG00000103227ENST00000262301p.L128*c.383T>ASubstitution - Nonsense
NOXRED1ENSG00000165555ENST00000298358p.Q11*c.31C>TSubstitution - Nonsense
ALDH4A1ENSG00000159423ENST00000290597p.R247Hc.740G>ASubstitution - Missense
SLC10A1ENSG00000100652ENST00000216540p.L282Vc.844C>GSubstitution - Missense
MLLT10ENSG00000078403ENST00000307729p.H1003Qc.3009C>GSubstitution - Missense
CRAMP1LENSG00000007545ENST00000397412p.R475fs*7c.1418_1419insGInsertion - Frameshift
PTX4ENSG00000251692ENST00000447419p.G413fs*>67c.1235_1236insGInsertion - Frameshift
ENST00000338282p.A2Ac.6G>ASubstitution - coding silent
ITPRIPL2ENSG00000205730ENST00000381440p.H122Qc.366C>GSubstitution - Missense
SYNGR3ENSG00000127561ENST00000248121p.C124Yc.371G>ASubstitution - Missense
GFERENSG00000127554ENST00000248114p.V191Vc.573G>ASubstitution - coding silent
RPL3LENSG00000140986ENST00000268661p.H276Rc.827A>GSubstitution - Missense
EHFENSG00000135373ENST00000257831p.R278Hc.833G>ASubstitution - Missense
ATHL1ENSG00000142102ENST00000409548p.V439Mc.1315G>ASubstitution - Missense
NINJ2ENSG00000171840ENST00000305108p.T155Tc.465C>TSubstitution - coding silent
KCNC4ENSG00000116396ENST00000369787p.A538Vc.1613C>TSubstitution - Missense
HFE2ENSG00000168509ENST00000336751p.R92Hc.275G>ASubstitution - Missense
CASZ1ENSG00000130940ENST00000377022p.E1383Kc.4147G>ASubstitution - Missense
SRMENSG00000116649ENST00000376957p.F185Fc.555C>TSubstitution - coding silent
ATP2B4ENSG00000058668ENST00000357681p.E524Kc.1570G>ASubstitution - Missense
LEO1ENSG00000166477ENST00000299601p.S449Yc.1346C>ASubstitution - Missense
HNRNPCL1ENSG00000179172ENST00000317869p.R17Cc.49C>TSubstitution - Missense
ZCCHC8ENSG00000033030ENST00000336229p.Q353*c.1057C>TSubstitution - Nonsense
ARHGEF2ENSG00000116584ENST00000313695p.M520Ic.1560G>ASubstitution - Missense
ARHGEF2ENSG00000116584ENST00000313695p.K36fs*11c.105delCDeletion - Frameshift
UBAP2LENSG00000143569ENST00000361546p.S467Sc.1401G>ASubstitution - coding silent
PLEKHA6ENSG00000143850ENST00000272203p.V328fs*172c.980delGDeletion - Frameshift
NPIPB15ENSG00000196436ENST00000429990p.L82Hc.245T>ASubstitution - Missense
RPS6KA5ENSG00000100784ENST00000261991p.P222Pc.666A>GSubstitution - coding silent
OR4F4ENSG00000177693ENST00000326183p.M111Tc.332T>CSubstitution - Missense
DDHD1ENSG00000100523ENST00000323669p.S332Fc.995C>TSubstitution - Missense
CD164L2ENSG00000174950ENST00000374027p.?c.257-9T>AUnknown
HHIPL1ENSG00000182218ENST00000357223p.L171Lc.513G>ASubstitution - coding silent
CARKDENSG00000213995ENST00000309957p.S341fs*>50c.1016delCDeletion - Frameshift
SKOR1ENSG00000188779ENST00000380035p.C210Cc.630C>TSubstitution - coding silent
RALGAPA2ENSG00000188559ENST00000202677p.V1200Mc.3598G>ASubstitution - Missense
ESF1ENSG00000089048ENST00000202816p.E577*c.1729G>TSubstitution - Nonsense
SIRPDENSG00000125900ENST00000381623p.D99Ec.297C>GSubstitution - Missense
FLRT3ENSG00000125848ENST00000378053p.R303Hc.908G>ASubstitution - Missense
HTR3DENSG00000186090ENST00000382489p.A89Tc.265G>ASubstitution - Missense
LETM1ENSG00000168924ENST00000302787p.I443Ic.1329T>ASubstitution - coding silent
VWA7ENSG00000204396ENST00000375688p.?c.918-1G>AUnknown
PFN3ENSG00000196570ENST00000358571p.R133Pc.398G>CSubstitution - Missense
XPO5ENSG00000124571ENST00000265351p.V600Lc.1798G>CSubstitution - Missense
LHX2ENSG00000106689ENST00000373615p.L173Lc.519G>ASubstitution - coding silent
FNBP1ENSG00000187239ENST00000420781p.?c.988-6delcUnknown
KNG1ENSG00000113889ENST00000265023p.G374Vc.1121G>TSubstitution - Missense
GARNL3ENSG00000136895ENST00000373387p.V520Mc.1558G>ASubstitution - Missense
VWA2ENSG00000165816ENST00000392982p.A268Ac.804G>ASubstitution - coding silent
SARSENSG00000031698ENST00000369923p.D334Ec.1002C>ASubstitution - Missense
ACVRL1ENSG00000139567ENST00000550683p.R61Pc.182G>CSubstitution - Missense
ENST00000545759p.?c.250-1G>AUnknown
CACNA1HENSG00000196557ENST00000348261p.R1892Cc.5674C>TSubstitution - Missense
MAPK3ENSG00000102882ENST00000403394p.A59Tc.175G>ASubstitution - Missense
MTMR10ENSG00000166912ENST00000563714p.T152Ic.455C>TSubstitution - Missense
ENST00000406302p.V518Vc.1554T>CSubstitution - coding silent
FCER1GENSG00000158869ENST00000367992p.?c.198+5G>TUnknown
DNAH7ENSG00000118997ENST00000410072p.K346fs*23c.1037delADeletion - Frameshift
TWF2ENSG00000247596ENST00000305533p.R72Hc.215G>ASubstitution - Missense
MED24ENSG00000008838ENST00000394128p.D91fs*18c.271delGDeletion - Frameshift
MAST4ENSG00000069020ENST00000403666p.P1544fs*18c.4627delCDeletion - Frameshift
ENST00000326873_v70p.G171Gc.513C>TSubstitution - coding silent
HECW2ENSG00000138411ENST00000260983p.A225Vc.674C>TSubstitution - Missense
ENST00000263281_v70p.C16Cc.48C>TSubstitution - coding silent
CACNA1IENSG00000100346ENST00000336649p.V1316Mc.3946G>ASubstitution - Missense
C2orf16ENSG00000221843ENST00000408964p.R1902Hc.5705G>ASubstitution - Missense
NUDT16ENSG00000198585ENST00000521288p.E79Kc.235G>ASubstitution - Missense
ALDH3A2ENSG00000072210ENST00000176643p.L92Lc.274C>TSubstitution - coding silent
EXOC7ENSG00000182473ENST00000335146p.?c.1971+9G>TUnknown
CTU2ENSG00000174177ENST00000567949p.P429Sc.1285C>TSubstitution - Missense
HIPK2ENSG00000064393ENST00000342645p.I227Tc.680T>CSubstitution - Missense
DMTNENSG00000158856ENST00000358242p.G317Dc.950G>ASubstitution - Missense
ENST00000328843_v70p.H2712Nc.8134C>ASubstitution - Missense
VENTXENSG00000151650ENST00000325980p.A165Ac.495G>ASubstitution - coding silent
ENST00000534231p.G238Sc.712G>ASubstitution - Missense
SMARCAD1ENSG00000163104ENST00000354268p.N347fs*24c.1033delADeletion - Frameshift
NIFKENSG00000155438ENST00000285814p.R50Cc.148C>TSubstitution - Missense
FBXW7ENSG00000109670ENST00000296555p.R387Cc.1159C>TSubstitution - Missense
TJP3ENSG00000105289ENST00000262968p.T864Tc.2592G>ASubstitution - coding silent
PIWIL2ENSG00000197181ENST00000356766p.R428Hc.1283G>ASubstitution - Missense
ENSG00000258417ENST00000262283p.R530Qc.1589G>ASubstitution - Missense
NACADENSG00000136274ENST00000490531p.S1300Sc.3900G>ASubstitution - coding silent
MFSD9ENSG00000135953ENST00000258436p.R292Cc.874C>TSubstitution - Missense
CYP27C1ENSG00000186684ENST00000335247p.S152Sc.456C>TSubstitution - coding silent
ENST00000356517_v68p.A163Vc.488C>TSubstitution - Missense
ENST00000357329p.Y604*c.1812C>ASubstitution - Nonsense
KCNC2ENSG00000166006ENST00000298972p.A196Vc.587C>TSubstitution - Missense
ITGA5ENSG00000161638ENST00000293379p.V173Mc.517G>ASubstitution - Missense
NFE2ENSG00000123405ENST00000312156p.R268Qc.803G>ASubstitution - Missense
RARGENSG00000172819ENST00000425354p.C93Cc.279C>TSubstitution - coding silent
NAA16ENSG00000172766ENST00000379406p.D112Yc.334G>TSubstitution - Missense
ESAMENSG00000149564ENST00000278927p.Q64Qc.192G>ASubstitution - coding silent
GLUD1ENSG00000148672ENST00000277865p.A14Ac.42C>TSubstitution - coding silent
KITLGENSG00000049130ENST00000228280p.V179Ic.535G>ASubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.P4087Sc.12259C>TSubstitution - Missense
CAMK1DENSG00000183049ENST00000378847p.K77*c.229A>TSubstitution - Nonsense
ARAP1ENSG00000186635ENST00000334211p.R198Hc.593G>ASubstitution - Missense
SLC35F3ENSG00000183780ENST00000366618p.R122Pc.365G>CSubstitution - Missense
KLHL33ENSG00000185271ENST00000344581p.R39Kc.116G>ASubstitution - Missense
ZNF511ENSG00000198546ENST00000361518p.R222Wc.664C>TSubstitution - Missense
CEP170BENSG00000099814ENST00000556508p.Q1314Rc.3941A>GSubstitution - Missense
IKZF5ENSG00000095574ENST00000368886p.R170Rc.510G>ASubstitution - coding silent
C10orf88ENSG00000119965ENST00000481909p.T15fs*28c.42_43insCInsertion - Frameshift
BIRC6ENSG00000115760ENST00000421745p.K4762Tc.14285A>CSubstitution - Missense
KIAA0195ENSG00000177728ENST00000314256p.T882Ic.2645C>TSubstitution - Missense
HPS3ENSG00000163755ENST00000296051p.H288Hc.864C>TSubstitution - coding silent
CCDC135ENSG00000159625ENST00000360716p.R512Rc.1536C>TSubstitution - coding silent
NKTRENSG00000114857ENST00000232978p.D264Nc.790G>ASubstitution - Missense
SLCO6A1ENSG00000205359ENST00000379807p.A27Sc.79G>TSubstitution - Missense
ZNF418ENSG00000196724ENST00000396147p.C512Yc.1535G>ASubstitution - Missense
USP53ENSG00000145390ENST00000274030p.K401Kc.1203G>ASubstitution - coding silent
JADE1ENSG00000077684ENST00000226319p.C318Yc.953G>ASubstitution - Missense
RLTPRENSG00000159753ENST00000334583p.D1194fs*6c.3575_3576insGInsertion - Frameshift
FAM65AENSG00000039523ENST00000379312p.S886*c.2657C>ASubstitution - Nonsense
ARID1BENSG00000049618ENST00000346085p.S497Nc.1490G>ASubstitution - Missense
ACAT2ENSG00000120437ENST00000367048p.R44Gc.130A>GSubstitution - Missense
CDKL5ENSG00000008086ENST00000379996p.L555Lc.1663C>TSubstitution - coding silent
ZP3ENSG00000188372ENST00000394857p.C321Cc.963C>TSubstitution - coding silent
CELSR1ENSG00000075275ENST00000262738p.P1438Sc.4312C>TSubstitution - Missense
SPTBN1ENSG00000115306ENST00000333896p.T2067Ic.6200C>TSubstitution - Missense
TFCP2L1ENSG00000115112ENST00000263707p.S212Nc.635G>ASubstitution - Missense
DACT3ENSG00000197380ENST00000300875p.Q352Qc.1056G>ASubstitution - coding silent
AP3D1ENSG00000065000ENST00000345016p.G129Sc.385G>ASubstitution - Missense
FBXL19ENSG00000099364ENST00000380310p.N136Hc.406A>CSubstitution - Missense
ACTL6BENSG00000077080ENST00000160382p.G51Wc.151G>TSubstitution - Missense
AP3D1ENSG00000065000ENST00000345016p.A1057Tc.3169G>ASubstitution - Missense
UCP1ENSG00000109424ENST00000262999p.A222Tc.664G>ASubstitution - Missense
BLOC1S3ENSG00000189114ENST00000433642p.L11Lc.33G>ASubstitution - coding silent
DACT3ENSG00000197380ENST00000391916p.Q577Qc.1731G>ASubstitution - coding silent
CRTC1ENSG00000105662ENST00000338797p.P241Pc.723G>ASubstitution - coding silent
AK9ENSG00000155085ENST00000424296p.P1827Pc.5481C>TSubstitution - coding silent
LAMA4ENSG00000112769ENST00000389463p.H1682Hc.5046C>TSubstitution - coding silent
TMEM259ENSG00000182087ENST00000356663p.M267Ic.801G>ASubstitution - Missense
FKTNENSG00000106692ENST00000223528p.?c.1044+3C>GUnknown
WDYHV1ENSG00000156795ENST00000287387p.A52Tc.154G>ASubstitution - Missense
PHF3ENSG00000118482ENST00000262043p.E792Kc.2374G>ASubstitution - Missense
HSD17B1ENSG00000108786ENST00000225929p.?c.446-5C>AUnknown
JUPENSG00000173801ENST00000393930p.A296Ac.888C>TSubstitution - coding silent
SORBS2ENSG00000154556ENST00000393528p.E603*c.1807G>TSubstitution - Nonsense
NM_198255.1p.?c.2619-5C>TUnknown
RXRAENSG00000186350ENST00000481739p.N253Nc.759C>TSubstitution - coding silent
CSF1RENSG00000182578ENST00000286301p.?c.49+8C>TUnknown
GOLM1ENSG00000135052ENST00000388712p.P318Pc.954T>CSubstitution - coding silent
MYO19ENSG00000141140ENST00000431794p.S86Sc.258G>ASubstitution - coding silent
GFOD1ENSG00000145990ENST00000379287p.?c.253+9C>TUnknown
WDR87ENSG00000171804ENST00000303868p.Q2579Kc.7735C>ASubstitution - Missense
MAGENSG00000105695ENST00000392213p.L602Lc.1804C>TSubstitution - coding silent
ST3GAL2ENSG00000157350ENST00000342907p.H326Yc.976C>TSubstitution - Missense
ENST00000312046_v70p.T562Mc.1685C>TSubstitution - Missense
NM_005334.1p.A621Tc.1861G>ASubstitution - Missense
KMT2EENSG00000005483ENST00000257745p.N289Tc.866A>CSubstitution - Missense
RP1L1ENSG00000183638ENST00000382483p.E794fs*21c.2380_2381insGInsertion - Frameshift
ENST00000309900p.V57Vc.171C>TSubstitution - coding silent
C7orf43ENSG00000146826ENST00000316937p.R359Hc.1076G>ASubstitution - Missense
FAM127BENSG00000203950ENST00000370775p.T47Mc.140C>TSubstitution - Missense
ZFP36ENSG00000128016ENST00000248673p.G75fs*12c.216_217insCInsertion - Frameshift
PSMC4ENSG00000013275ENST00000157812p.S350Nc.1049G>ASubstitution - Missense
TNFENSG00000232810ENST00000449264p.S85Tc.254G>CSubstitution - Missense
WDSUB1ENSG00000196151ENST00000359774p.T83Ic.248C>TSubstitution - Missense
SRP72ENSG00000174780ENST00000342756p.?c.1086+10T>GUnknown
PPM1FENSG00000100034ENST00000263212p.A347Vc.1040C>TSubstitution - Missense
COL11A2ENSG00000204248ENST00000341947p.R130Qc.389G>ASubstitution - Missense
RPS19ENSG00000105372ENST00000221975p.N85Nc.255C>TSubstitution - coding silent
TJAP1ENSG00000137221ENST00000372444p.H531Yc.1591C>TSubstitution - Missense
CRYMENSG00000103316ENST00000219599p.A282Tc.844G>ASubstitution - Missense
OR10H3ENSG00000171936ENST00000305892p.L83Lc.247C>TSubstitution - coding silent
C6orf25ENSG00000204420ENST00000375806p.H166Hc.498C>TSubstitution - coding silent
NAV1ENSG00000134369ENST00000367296p.V1624Mc.4870G>ASubstitution - Missense
NPAS3ENSG00000151322ENST00000357798p.L159fs*11c.472delTDeletion - Frameshift
SOX5ENSG00000134532ENST00000451604p.A435Ec.1304C>ASubstitution - Missense
CRTC2ENSG00000160741ENST00000368633p.R688Rc.2064C>TSubstitution - coding silent
DEGS2ENSG00000168350ENST00000305631p.Y134Yc.402C>TSubstitution - coding silent
OSMRENSG00000145623ENST00000274276p.T823Ic.2468C>TSubstitution - Missense
SLC38A8ENSG00000166558ENST00000299709p.L417Lc.1249C>TSubstitution - coding silent
SLC44A3ENSG00000143036ENST00000271227p.L247Fc.741G>TSubstitution - Missense
ZNF846ENSG00000196605ENST00000397902p.C371Rc.1111T>CSubstitution - Missense
ISM1ENSG00000101230ENST00000262487p.T287Ic.860C>TSubstitution - Missense
ENST00000299564p.S438Nc.1313G>ASubstitution - Missense
POLRMTENSG00000099821ENST00000588649p.R875Hc.2624G>ASubstitution - Missense
NM_003685.1p.Q202*c.604C>TSubstitution - Nonsense
SUSD3ENSG00000157303ENST00000375472p.P39Pc.117G>ASubstitution - coding silent
PCMTD1ENSG00000168300ENST00000360540p.N131fs*23c.392delADeletion - Frameshift
LILRA1ENSG00000104974ENST00000251372p.L344Lc.1032G>ASubstitution - coding silent
THOP1ENSG00000172009ENST00000307741p.G306Wc.916G>TSubstitution - Missense
RHPN2ENSG00000131941ENST00000254260p.V609Mc.1825G>ASubstitution - Missense
GALR2ENSG00000182687ENST00000329003p.R134Hc.401G>ASubstitution - Missense
EVPLENSG00000167880ENST00000301607p.Y1877Hc.5629T>CSubstitution - Missense
TOP3AENSG00000177302ENST00000321105p.G755fs*18c.2264delGDeletion - Frameshift
ENST00000326348p.A25Tc.73G>ASubstitution - Missense
ZNF341ENSG00000131061ENST00000342427p.T338Tc.1014C>TSubstitution - coding silent
FLT3LGENSG00000090554ENST00000204637p.Q137*c.409C>TSubstitution - Nonsense
TNFRSF10AENSG00000104689ENST00000221132p.L412Lc.1234C>TSubstitution - coding silent
PLXNA4ENSG00000221866ENST00000423507p.R99Hc.296G>ASubstitution - Missense
ACO1ENSG00000122729ENST00000379923p.A432Vc.1295C>TSubstitution - Missense
ELP2ENSG00000134759ENST00000350494p.T542Tc.1626T>ASubstitution - coding silent
ENPP7ENSG00000182156ENST00000328313p.T184Ic.551C>TSubstitution - Missense
ENST00000340028p.G99Vc.296G>TSubstitution - Missense
RIPK4ENSG00000183421ENST00000352483p.D452Ec.1356C>ASubstitution - Missense
ANKRD36CENSG00000174501ENST00000420871p.K905fs*13c.2715delADeletion - Frameshift
ABCG1ENSG00000160179ENST00000398437p.C448Yc.1343G>ASubstitution - Missense
CNN1ENSG00000130176ENST00000252456p.A221Vc.662C>TSubstitution - Missense
ALOXE3ENSG00000179148ENST00000318227p.G491Wc.1471G>TSubstitution - Missense
DUS1LENSG00000169718ENST00000306796p.R222Wc.664C>TSubstitution - Missense
DOK7ENSG00000175920ENST00000389653p.P146fs*100c.432delCDeletion - Frameshift
ATP2A3ENSG00000074370ENST00000359983p.A240Ac.720G>TSubstitution - coding silent
ZNF423ENSG00000102935ENST00000262383p.E1182fs*11c.3546_3547delGADeletion - Frameshift
GRM2ENSG00000164082ENST00000395052p.L62Lc.186G>ASubstitution - coding silent
HIST1H1CENSG00000187837ENST00000343677p.K152Kc.456G>ASubstitution - coding silent
TTLL2ENSG00000120440ENST00000239587p.G371Gc.1113G>ASubstitution - coding silent
ENST00000273600p.L91Lc.271C>TSubstitution - coding silent
MYH10ENSG00000133026ENST00000269243p.Q1788Hc.5364G>TSubstitution - Missense
MAPK4ENSG00000141639ENST00000400384p.A126Tc.376G>ASubstitution - Missense
ENST00000360660p.R31Wc.91C>TSubstitution - Missense
CPSF1ENSG00000071894ENST00000349769p.E553fs*23c.1657delGDeletion - Frameshift
CPSF1ENSG00000071894ENST00000349769p.R42Hc.125G>ASubstitution - Missense
PEX1ENSG00000127980ENST00000248633p.I700Ic.2100C>ASubstitution - coding silent
PEX1ENSG00000127980ENST00000248633p.M276Ic.828G>ASubstitution - Missense
COMTENSG00000093010ENST00000361682p.Q57Lc.170A>TSubstitution - Missense
EFCAB8ENSG00000215529ENST00000457731p.L88Lc.264G>ASubstitution - coding silent
DNMT3BENSG00000088305ENST00000201963p.Q340*c.1018C>TSubstitution - Nonsense
CTAGE1ENSG00000212710ENST00000391403p.R683Kc.2048G>ASubstitution - Missense
ENST00000420275p.?c.1437+6C>GUnknown
ENSG00000268500ENST00000429354p.T313Sc.938C>GSubstitution - Missense
ENST00000448943_v68p.L121Mc.361C>ASubstitution - Missense
EMILIN1ENSG00000138080ENST00000380320p.G487Ec.1460G>ASubstitution - Missense
KIAA1211LENSG00000196872ENST00000397899p.G480Rc.1438G>CSubstitution - Missense
HELZ2ENSG00000130589ENST00000467148p.M781Ic.2343G>ASubstitution - Missense
TCFL5ENSG00000101190ENST00000335351p.E388fs*36c.1162delGDeletion - Frameshift
ITFG3ENSG00000167930ENST00000301678p.L210Lc.630G>ASubstitution - coding silent
LIN54ENSG00000189308ENST00000340417p.?c.809-4G>AUnknown
TEX15ENSG00000133863ENST00000256246p.T1397Ic.4190C>TSubstitution - Missense
GRIN1ENSG00000176884ENST00000371561p.F408Fc.1224C>TSubstitution - coding silent
SEC31AENSG00000138674ENST00000432794p.R894Qc.2681G>ASubstitution - Missense
ENST00000378682p.E305Kc.913G>ASubstitution - Missense
TBXAS1ENSG00000059377ENST00000416849p.N571fs*>10c.1707delADeletion - Frameshift
FAM78AENSG00000126882ENST00000372271p.L265Lc.795C>TSubstitution - coding silent
KDM4DENSG00000186280ENST00000335080p.K93fs*4c.271delADeletion - Frameshift
CCDC171ENSG00000164989ENST00000380701p.N692fs*9c.2068_2069insAInsertion - Frameshift
ENST00000375089p.A891Ac.2673C>ASubstitution - coding silent
NM_020247p.V118Mc.352G>ASubstitution - Missense
RASGEF1AENSG00000198915ENST00000395809p.?c.681+8C>TUnknown
NM_145313.1p.?c.522+8C>TUnknown
SELPLGENSG00000110876ENST00000388962p.G373fs*10c.1118delGDeletion - Frameshift
ITGA5ENSG00000161638ENST00000293379p.P698Tc.2092C>ASubstitution - Missense
ITGA7ENSG00000135424ENST00000257879p.S696Sc.2088G>ASubstitution - coding silent
PSTPIP1ENSG00000140368ENST00000558012p.R223Rc.669G>ASubstitution - coding silent
MPIENSG00000178802ENST00000352410p.A47Vc.140C>TSubstitution - Missense
SNX33ENSG00000173548ENST00000308527p.R159Pc.476G>CSubstitution - Missense
LMNAENSG00000160789ENST00000368300p.H374Hc.1122C>TSubstitution - coding silent
SORL1ENSG00000137642ENST00000260197p.G1305Rc.3913G>ASubstitution - Missense
CDK11BENSG00000248333ENST00000407249p.W592*c.1776G>ASubstitution - Nonsense
F2ENSG00000180210ENST00000311907p.V272Lc.814G>TSubstitution - Missense
KAT6BENSG00000156650ENST00000287239p.?c.2373+8C>TUnknown
ZMIZ1ENSG00000108175ENST00000334512p.P1050fs*6c.3144_3145delCCDeletion - Frameshift
LIMA1ENSG00000050405ENST00000341247p.N27Nc.81C>TSubstitution - coding silent
NM_018979p.R81Hc.242G>ASubstitution - Missense
LTBRENSG00000111321ENST00000228918p.A172Vc.515C>TSubstitution - Missense
PWWP2BENSG00000171813ENST00000305233p.R575Kc.1724G>ASubstitution - Missense
XRRA1ENSG00000166435ENST00000340360p.R749Hc.2246G>ASubstitution - Missense
OPTNENSG00000123240ENST00000263036p.?c.166+6C>TUnknown
TMBIM6ENSG00000139644ENST00000423828p.P79Pc.237G>ASubstitution - coding silent
SSH3ENSG00000172830ENST00000308127p.A229Sc.685G>TSubstitution - Missense
BSCL2ENSG00000168000ENST00000433053p.E29Kc.85G>ASubstitution - Missense
PITPNM1ENSG00000110697ENST00000534749p.A281Ec.842C>ASubstitution - Missense
C11orf48ENSG00000162194ENST00000354588p.L13Fc.37C>TSubstitution - Missense
INTS5ENSG00000185085ENST00000330574p.L363Fc.1087C>TSubstitution - Missense
CD248ENSG00000174807ENST00000311330p.Q282Qc.846G>ASubstitution - coding silent
KIF21AENSG00000139116ENST00000395670p.V1351Mc.4051G>ASubstitution - Missense
WDR96ENSG00000197748ENST00000357060p.T433Tc.1299G>ASubstitution - coding silent
SESN3ENSG00000149212ENST00000536441p.V23Vc.69G>ASubstitution - coding silent
HPS6ENSG00000166189ENST00000299238p.P259Tc.775C>ASubstitution - Missense
CUEDC2ENSG00000107874ENST00000369937p.P20Pc.60G>ASubstitution - coding silent
TACC2ENSG00000138162ENST00000453444p.?c.146+7G>TUnknown
C11orf44ENSG00000175728ENST00000317019p.F65Fc.195C>TSubstitution - coding silent
FBXO42ENSG00000037637ENST00000375592p.S568Fc.1703C>TSubstitution - Missense
ENST00000310358p.N326Nc.978C>TSubstitution - coding silent
CCDC27ENSG00000162592ENST00000294600p.R522Qc.1565G>ASubstitution - Missense
PLA2G4FENSG00000168907ENST00000382396p.S628Pc.1882T>CSubstitution - Missense
ENST00000398860p.A2529Vc.7586C>TSubstitution - Missense
LTBP3ENSG00000168056ENST00000322147p.?c.1979-6G>AUnknown
EHD1ENSG00000110047ENST00000359393p.?c.404+6C>TUnknown
COL13A1ENSG00000197467ENST00000356340p.?c.365-7C>TUnknown
GOLGA6L2ENSG00000174450ENST00000567107p.R126Rc.378G>ASubstitution - coding silent
PAPLNENSG00000100767ENST00000427855p.L957Lc.2869C>TSubstitution - coding silent
COQ5ENSG00000110871ENST00000288532p.T52Rc.155C>GSubstitution - Missense
LHX5ENSG00000089116ENST00000261731p.A65Tc.193G>ASubstitution - Missense
ZNF106ENSG00000103994ENST00000263805p.K802fs*13c.2405delADeletion - Frameshift
BIRC3ENSG00000023445ENST00000263464p.N103Kc.309C>ASubstitution - Missense
BICC1ENSG00000122870ENST00000373886p.H296Lc.887A>TSubstitution - Missense
HEATR4ENSG00000187105ENST00000553558p.Y55Cc.164A>GSubstitution - Missense
ENST00000312753p.L69Fc.205C>TSubstitution - Missense
PIK3C2BENSG00000133056ENST00000367187p.S134*c.401C>ASubstitution - Nonsense
LGR6ENSG00000133067ENST00000367278p.P945Lc.2834C>TSubstitution - Missense
SHC1ENSG00000160691ENST00000444664p.V27fs*2c.77delGDeletion - Frameshift
FAM189BENSG00000160767ENST00000361361p.V356Mc.1066G>ASubstitution - Missense
ENST00000316490p.V2378Ac.7133T>CSubstitution - Missense
FUKENSG00000157353ENST00000378912p.R450Cc.1348C>TSubstitution - Missense
MCM7ENSG00000166508ENST00000354230p.N353Yc.1057A>TSubstitution - Missense
CYP2A7ENSG00000198077ENST00000301146p.A301Ac.903A>GSubstitution - coding silent
NM_016154.2p.D15fs*19c.34_35delAGDeletion - Frameshift
FCGBPENSG00000090920ENST00000221347p.L4216Lc.12648C>TSubstitution - coding silent
MAP2K2ENSG00000126934ENST00000262948p.N225Nc.675C>TSubstitution - coding silent
C6orf136ENSG00000204564ENST00000293604p.E273fs*64c.813delGDeletion - Frameshift
ESYT2ENSG00000117868ENST00000251527p.?c.1245+9T>AUnknown
ITGB6ENSG00000115221ENST00000283249p.S199Ic.596G>TSubstitution - Missense
CCDC94ENSG00000105248ENST00000262962p.T45Mc.134C>TSubstitution - Missense
ADAMTSL5ENSG00000185761ENST00000330475p.A4Pc.10G>CSubstitution - Missense
VWA7ENSG00000204396ENST00000375688p.P839Lc.2516C>TSubstitution - Missense
SCN7AENSG00000136546ENST00000409855p.T1055Tc.3165C>TSubstitution - coding silent
ENST00000345702p.Q583*c.1747C>TSubstitution - Nonsense
BCL9LENSG00000186174ENST00000334801p.H29Yc.85C>TSubstitution - Missense
FOXJ2ENSG00000065970ENST00000428177p.R68Qc.203G>ASubstitution - Missense
FAM186BENSG00000135436ENST00000544141p.L701Lc.2101C>TSubstitution - coding silent
OR4A16ENSG00000181961ENST00000314721p.C85Sc.254G>CSubstitution - Missense
NFATC4ENSG00000100968ENST00000556279p.P925Hc.2774C>ASubstitution - Missense
ATXN3ENSG00000066427ENST00000532032p.F5Fc.15C>TSubstitution - coding silent
ENST00000256343_v70p.I231Ic.693C>ASubstitution - coding silent
SMAP2ENSG00000084070ENST00000372708p.S174Nc.521G>ASubstitution - Missense
ARHGEF2ENSG00000116584ENST00000368315p.R368Qc.1103G>ASubstitution - Missense
HLA-DMAENSG00000204257ENST00000456800p.P157fs*8c.468delTDeletion - Frameshift
FRA10AC1ENSG00000148690ENST00000394100p.K247fs*>46c.741delADeletion - Frameshift
FAM129CENSG00000167483ENST00000300971p.S390Sc.1170G>ASubstitution - coding silent
PPM1NENSG00000213889ENST00000324688p.T231Mc.692C>TSubstitution - Missense
ITFG3ENSG00000167930ENST00000450082p.L210Lc.630G>ASubstitution - coding silent
ENST00000332468p.M37Ic.111G>ASubstitution - Missense
SLC12A4ENSG00000124067ENST00000537830p.A142Ec.425C>ASubstitution - Missense
OGG1ENSG00000114026ENST00000302003p.A85Dc.254C>ASubstitution - Missense
DIDO1ENSG00000101191ENST00000395335p.V388Mc.1162G>ASubstitution - Missense
PCDHAC1ENSG00000248383ENST00000409700p.L707Lc.2121G>ASubstitution - coding silent
PCDH1ENSG00000156453ENST00000394536p.N502Nc.1506C>TSubstitution - coding silent
TK1ENSG00000167900ENST00000588734p.C109Cc.327C>TSubstitution - coding silent
TBCDENSG00000141556ENST00000397466p.R68Qc.203G>ASubstitution - Missense
STEAP3ENSG00000115107ENST00000409811p.C261Cc.783C>TSubstitution - coding silent
CACNA1IENSG00000100346ENST00000336649p.?c.4952-3C>TUnknown
MICAL1ENSG00000135596ENST00000368952p.R337Wc.1009C>TSubstitution - Missense
TENM1ENSG00000009694ENST00000422452p.S2617Fc.7850C>TSubstitution - Missense
EHMT2ENSG00000204371ENST00000395728p.C923*c.2769C>ASubstitution - Nonsense
EHMT2ENSG00000204371ENST00000395728p.D609Dc.1827C>TSubstitution - coding silent
CASTENSG00000153113ENST00000338252p.K693Nc.2079A>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.S1894Ic.5681G>TSubstitution - Missense
COL21A1ENSG00000124749ENST00000535941p.P908Pc.2724T>ASubstitution - coding silent
PLECENSG00000178209ENST00000356346p.C3342Cc.10026C>TSubstitution - coding silent
PRICKLE3ENSG00000012211ENST00000536904p.A455Vc.1364C>TSubstitution - Missense
SURF4ENSG00000148248ENST00000371991p.C61Yc.182G>ASubstitution - Missense
SALL1ENSG00000103449ENST00000251020p.E983Qc.2947G>CSubstitution - Missense
CBFA2T3ENSG00000129993ENST00000268679p.E554Kc.1660G>ASubstitution - Missense
FEM1AENSG00000141965ENST00000269856p.T185Kc.554C>ASubstitution - Missense
NLRP12ENSG00000142405ENST00000324134p.A682Tc.2044G>ASubstitution - Missense
CHRM2ENSG00000181072ENST00000320658p.V171Mc.511G>ASubstitution - Missense
CNN1ENSG00000130176ENST00000252456p.C238Cc.714C>TSubstitution - coding silent
OR7C1ENSG00000127530ENST00000248073p.T76Mc.227C>TSubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.W684Lc.2051G>TSubstitution - Missense
CRTAC1ENSG00000095713ENST00000370597p.C258Cc.774C>TSubstitution - coding silent
DYNC2H1ENSG00000187240ENST00000398093p.P1703Pc.5109G>ASubstitution - coding silent
EGR2ENSG00000122877ENST00000242480p.A309delAc.925_927delGCCDeletion - In frame
CELSR1ENSG00000075275ENST00000262738p.G614fs*54c.1841delGDeletion - Frameshift
ZNF462ENSG00000148143ENST00000277225p.P1102fs*39c.3298delCDeletion - Frameshift
CSNK1DENSG00000141551ENST00000314028p.R358fs*12c.1072delCDeletion - Frameshift
FASNENSG00000169710ENST00000306749p.A756Vc.2267C>TSubstitution - Missense
ELMO3ENSG00000102890ENST00000393997p.G383Rc.1147G>ASubstitution - Missense
SLC25A38ENSG00000144659ENST00000273158p.T149Tc.447G>ASubstitution - coding silent
GOLGA4ENSG00000144674ENST00000361924p.T1243Ac.3727A>GSubstitution - Missense
TRIM28ENSG00000130726ENST00000253024p.F125Yc.374T>ASubstitution - Missense
RGPD3ENSG00000153165ENST00000409886p.V896Gc.2687T>GSubstitution - Missense
ENSG00000083842ENST00000196548p.?c.193+6C>AUnknown
CLEC4FENSG00000152672ENST00000272367p.R351Cc.1051C>TSubstitution - Missense
NM_031288.1p.C321Cc.963C>TSubstitution - coding silent
CDH3ENSG00000062038ENST00000429102p.M327Ic.981G>ASubstitution - Missense
ACDENSG00000102977ENST00000219251p.R55Hc.164G>ASubstitution - Missense
STX11ENSG00000135604ENST00000367568p.L73Fc.217C>TSubstitution - Missense
ATXN1ENSG00000124788ENST00000244769p.Q514fs*62c.1540delCDeletion - Frameshift
MYO7BENSG00000169994ENST00000428314p.D576Nc.1726G>ASubstitution - Missense
SH3BP4ENSG00000130147ENST00000344528p.S326Pc.976T>CSubstitution - Missense
MYO7BENSG00000169994ENST00000428314p.R1636Sc.4906C>ASubstitution - Missense
FLNAENSG00000196924ENST00000369850p.K1538Nc.4614G>TSubstitution - Missense
EFCAB6ENSG00000186976ENST00000262726p.?c.352-7A>GUnknown
MCATENSG00000100294ENST00000290429p.S191Nc.572G>ASubstitution - Missense
MAZENSG00000103495ENST00000219782p.F428Fc.1284C>TSubstitution - coding silent
TBX6ENSG00000149922ENST00000395224p.M213Ic.639G>ASubstitution - Missense
BBC3ENSG00000105327ENST00000449228p.R238Mc.713G>TSubstitution - Missense
SRRM2ENSG00000167978ENST00000301740p.R1787Cc.5359C>TSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.T1423Tc.4269C>ASubstitution - coding silent
TRIM56ENSG00000169871ENST00000306085p.P67Pc.201C>TSubstitution - coding silent
C9orf142ENSG00000148362ENST00000371620p.L124Lc.372G>ASubstitution - coding silent
CELSR1ENSG00000075275ENST00000262738p.T1849Tc.5547G>ASubstitution - coding silent
ZRANB3ENSG00000121988ENST00000264159p.V343Fc.1027G>TSubstitution - Missense
ENST00000313614p.S326Nc.977G>ASubstitution - Missense
RAB6CENSG00000222014ENST00000410061p.A171Tc.511G>ASubstitution - Missense
CCR3ENSG00000183625ENST00000357422p.K234fs*52c.694delADeletion - Frameshift
IFNEENSG00000184995ENST00000448696p.E102*c.304G>TSubstitution - Nonsense
JAK3ENSG00000105639ENST00000458235p.A660fs*10c.1978delGDeletion - Frameshift
ARRDC2ENSG00000105643ENST00000222250p.L325Lc.973C>TSubstitution - coding silent
RAVER1ENSG00000161847ENST00000293677p.?c.245_270+6>30Unknown
CELSR3ENSG00000008300ENST00000164024p.R2154Rc.6460C>ASubstitution - coding silent
EIF3DENSG00000100353ENST00000216190p.T423Mc.1268C>TSubstitution - Missense
TRIOBPENSG00000100106ENST00000406386p.R851Rc.2553G>ASubstitution - coding silent
LACE1ENSG00000135537ENST00000368977p.P58Lc.173C>TSubstitution - Missense
ROS1ENSG00000047936ENST00000368508p.V148Vc.444G>ASubstitution - coding silent
MICALL1ENSG00000100139ENST00000215957p.P392Pc.1176G>CSubstitution - coding silent
BRD9ENSG00000028310ENST00000467963p.?c.267+5A>TUnknown
FAM135AENSG00000082269ENST00000370479p.E54Ec.162A>GSubstitution - coding silent
EXT1ENSG00000182197ENST00000378204p.Q495Hc.1485G>TSubstitution - Missense
MRPL13ENSG00000172172ENST00000306185p.V76Ac.227T>CSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.T1216Ic.3647C>TSubstitution - Missense
POMT1ENSG00000130714ENST00000372220p.R234Rc.702C>TSubstitution - coding silent
GHSRENSG00000121853ENST00000241256p.F12Fc.36C>TSubstitution - coding silent
DAPK1ENSG00000196730ENST00000408954p.S635Sc.1905C>TSubstitution - coding silent
SLC2A6ENSG00000160326ENST00000371899p.V255Ic.763G>ASubstitution - Missense
SLC52A1ENSG00000132517ENST00000254853p.A162Tc.484G>ASubstitution - Missense
PTPRKENSG00000152894ENST00000368213p.I1237Vc.3709A>GSubstitution - Missense
RAD51DENSG00000185379ENST00000335858p.G171Gc.513A>CSubstitution - coding silent
MATKENSG00000007264ENST00000310132p.G399Rc.1195G>ASubstitution - Missense
HMG20BENSG00000064961ENST00000333651p.?c.351+6C>TUnknown
ENST00000230993_v65p.R617Hc.1850G>ASubstitution - Missense
ETF1ENSG00000120705ENST00000360541p.K249Kc.747A>GSubstitution - coding silent
ANXA6ENSG00000197043ENST00000354546p.K262*c.784A>TSubstitution - Nonsense
TENM2ENSG00000145934ENST00000518659p.N1499Nc.4497C>TSubstitution - coding silent
AIF1ENSG00000204472ENST00000376059p.A128Vc.383C>TSubstitution - Missense
ENST00000316490_v65p.H4089Hc.12267C>TSubstitution - coding silent
MYO1GENSG00000136286ENST00000258787p.C411Yc.1232G>ASubstitution - Missense
RGS22ENSG00000132554ENST00000360863p.G827Dc.2480G>ASubstitution - Missense
YWHAZENSG00000164924ENST00000395957p.R18*c.52C>TSubstitution - Nonsense
C7orf43ENSG00000146826ENST00000316937p.P143Lc.428C>TSubstitution - Missense
CCDC17ENSG00000159588ENST00000343901p.L474Lc.1422A>GSubstitution - coding silent
CRTC2ENSG00000160741ENST00000368633p.L477Lc.1429C>TSubstitution - coding silent
SPATA5L1ENSG00000171763ENST00000305560p.P9Pc.27T>CSubstitution - coding silent
PKLRENSG00000143627ENST00000342741p.S87Nc.260G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000347598p.F395fs*36c.1180delTDeletion - Frameshift
CCDC88CENSG00000015133ENST00000389857p.R1054*c.3160C>TSubstitution - Nonsense
CILPENSG00000138615ENST00000261883p.T926Ic.2777C>TSubstitution - Missense
ZFYVE19ENSG00000166140ENST00000336455p.R315Wc.943C>TSubstitution - Missense
RPS6KA1ENSG00000117676ENST00000374168p.A117Vc.350C>TSubstitution - Missense
DNTTIP2ENSG00000067334ENST00000436063p.N616fs*33c.1847delADeletion - Frameshift
RAI14ENSG00000039560ENST00000265109p.S909Sc.2727C>TSubstitution - coding silent
HOXB4ENSG00000182742ENST00000332503p.V150Lc.448G>CSubstitution - Missense
ENST00000456564p.?c.1425-8T>CUnknown
COL24A1ENSG00000171502ENST00000370571p.R515Wc.1543C>TSubstitution - Missense
ENO1ENSG00000074800ENST00000234590p.S336Sc.1008C>TSubstitution - coding silent
GPR108ENSG00000125734ENST00000264080p.V376Vc.1128C>TSubstitution - coding silent
SMARCAL1ENSG00000138375ENST00000357276p.A286Ac.858C>ASubstitution - coding silent
SMARCAL1ENSG00000138375ENST00000357276p.P587Sc.1759C>TSubstitution - Missense
ENST00000356127p.E1948Dc.5844G>CSubstitution - Missense
WDR81ENSG00000167716ENST00000409644p.P499Tc.1495C>ASubstitution - Missense
WDR81ENSG00000167716ENST00000309182p.A294Ac.882G>TSubstitution - coding silent
UBE2OENSG00000175931ENST00000319380p.R1107Rc.3321C>ASubstitution - coding silent
NM_017876.3p.P76Lc.227C>TSubstitution - Missense
GPIENSG00000105220ENST00000356487p.F256fs*146c.766delTDeletion - Frameshift
NOSIPENSG00000142546ENST00000391853p.P165Pc.495G>ASubstitution - coding silent
ZNF555ENSG00000186300ENST00000334241p.L34Lc.100C>TSubstitution - coding silent
ACOX1ENSG00000161533ENST00000301608p.T473Tc.1419C>TSubstitution - coding silent
UBAP2ENSG00000137073ENST00000379238p.I72Mc.216A>GSubstitution - Missense
SIGLEC10ENSG00000142512ENST00000339313p.L670Fc.2008C>TSubstitution - Missense
KANK1ENSG00000107104ENST00000382293p.?c.3423+1G>AUnknown
HRENSG00000168453ENST00000381418p.W446*c.1338G>ASubstitution - Nonsense
LOXL2ENSG00000134013ENST00000389131p.Q305*c.913C>TSubstitution - Nonsense
FLNBENSG00000136068ENST00000490882p.A2571Vc.7712C>TSubstitution - Missense
ARHGEF3ENSG00000163947ENST00000296315p.E125*c.373G>TSubstitution - Nonsense
TRIM35ENSG00000104228ENST00000305364p.R461Cc.1381C>TSubstitution - Missense
SLC44A2ENSG00000129353ENST00000335757p.A704Vc.2111C>TSubstitution - Missense
FSCN2ENSG00000186765ENST00000334850p.G415Dc.1244G>ASubstitution - Missense
ENST00000005905p.I459Ic.1377C>ASubstitution - coding silent
ACEENSG00000159640ENST00000490216p.H457Yc.1369C>TSubstitution - Missense
ERAL1ENSG00000132591ENST00000254928p.Q162*c.484C>TSubstitution - Nonsense
C16orf78ENSG00000166152ENST00000299191p.P159Pc.477C>TSubstitution - coding silent
SHROOM3ENSG00000138771ENST00000296043p.G691fs*151c.2068delGDeletion - Frameshift
CCDC96ENSG00000173013ENST00000310085p.N415Nc.1245C>TSubstitution - coding silent
PEX1ENSG00000127980ENST00000248633p.S649*c.1946C>ASubstitution - Nonsense
NM_022740p.D502Nc.1504G>ASubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.?c.1657-10G>AUnknown
LOXHD1ENSG00000167210ENST00000398722p.H1253Yc.3757C>TSubstitution - Missense
LRRC24ENSG00000254402ENST00000529415p.R200Cc.598C>TSubstitution - Missense
ENST00000292520p.Q288*c.862C>TSubstitution - Nonsense
CENPOENSG00000138092ENST00000380834p.V41Mc.121G>ASubstitution - Missense
NM_003319p.A19476Vc.58427C>TSubstitution - Missense
NM_003319p.G25140Dc.75419G>ASubstitution - Missense
TGFB1I1ENSG00000140682ENST00000394858p.P374Pc.1122G>ASubstitution - coding silent
SNX17ENSG00000115234ENST00000233575p.A145Vc.434C>TSubstitution - Missense
ZNF513ENSG00000163795ENST00000323703p.R473Hc.1418G>ASubstitution - Missense
RTEL1ENSG00000258366ENST00000370018p.G201Rc.601G>ASubstitution - Missense
DIDO1ENSG00000101191ENST00000370371p.V388Mc.1162G>ASubstitution - Missense
DIDO1ENSG00000101191ENST00000395343p.A81Vc.242C>TSubstitution - Missense
SOX18ENSG00000203883ENST00000340356p.K117Kc.351G>ASubstitution - coding silent
UCKL1ENSG00000198276ENST00000354216p.?c.114-10C>AUnknown
NM_003985p.A439Ec.1316C>ASubstitution - Missense
GRB2ENSG00000177885ENST00000392564p.G43Vc.128G>TSubstitution - Missense
CCSER1ENSG00000184305ENST00000509176p.T313Ac.937A>GSubstitution - Missense
LANCL3ENSG00000147036ENST00000378619p.E230Kc.688G>ASubstitution - Missense
DOCK9ENSG00000088387ENST00000448493p.Y615*c.1845C>ASubstitution - Nonsense
BAZ2AENSG00000076108ENST00000379441p.N177Kc.531C>GSubstitution - Missense
CR1ENSG00000203710ENST00000400960p.G1098Ec.3293G>ASubstitution - Missense
PTDSS2ENSG00000174915ENST00000308020p.G286Gc.858C>TSubstitution - coding silent
C10orf129ENSG00000173124ENST00000341686p.D460Ec.1380C>ASubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.S1831Sc.5493C>TSubstitution - coding silent
ANXA7ENSG00000138279ENST00000372919p.?c.1156-8G>AUnknown
C10orf11ENSG00000148655ENST00000372499p.R128*c.382C>TSubstitution - Nonsense
LRP1ENSG00000123384ENST00000243077p.R3511Cc.10531C>TSubstitution - Missense
ENST00000313194p.Q64*c.190C>TSubstitution - Nonsense
NACAENSG00000196531ENST00000454682p.P1036Lc.3107C>TSubstitution - Missense
SHMT2ENSG00000182199ENST00000328923p.?c.1123+10C>TUnknown
DHRS4ENSG00000157326ENST00000313250p.A72Vc.215C>TSubstitution - Missense
ZNF511ENSG00000198546ENST00000361518p.P192Lc.575C>TSubstitution - Missense
TMC3ENSG00000188869ENST00000359440p.R931Qc.2792G>ASubstitution - Missense
FOLR1ENSG00000110195ENST00000393676p.W156*c.468G>ASubstitution - Nonsense
NM_001380.2p.R104Rc.312G>ASubstitution - coding silent
AHNAKENSG00000124942ENST00000378024p.A5761Tc.17281G>ASubstitution - Missense
SHANK2ENSG00000162105ENST00000338508p.P1481fs*73c.4442delCDeletion - Frameshift
PHRF1ENSG00000070047ENST00000416188p.S1228Sc.3684G>ASubstitution - coding silent
FADS2ENSG00000134824ENST00000278840p.G56fs*31c.162delGDeletion - Frameshift
NCDNENSG00000020129ENST00000373253p.G487_T490delGHDTc.1457_1468del12Deletion - In frame
GPR12ENSG00000132975ENST00000381436p.N180Yc.538A>TSubstitution - Missense
NUP37ENSG00000075188ENST00000552283p.P167Lc.500C>TSubstitution - Missense
SLC22A24ENSG00000197658ENST00000417740p.L54Lc.162G>ASubstitution - coding silent
RTN3ENSG00000133318ENST00000339997p.W464*c.1392G>ASubstitution - Nonsense
ATG2AENSG00000110046ENST00000377264p.R1518Sc.4552C>ASubstitution - Missense
ABCC8ENSG00000006071ENST00000389817p.P634fs*13c.1901delCDeletion - Frameshift
MLXIPENSG00000175727ENST00000319080p.T804Mc.2411C>TSubstitution - Missense
ANXA9ENSG00000143412ENST00000368947p.R300*c.898C>TSubstitution - Nonsense
HPXENSG00000110169ENST00000265983p.R166Rc.498C>TSubstitution - coding silent
GPR137ENSG00000173264ENST00000438980p.R175Cc.523C>TSubstitution - Missense
SF1ENSG00000168066ENST00000377390p.T26Ic.77C>TSubstitution - Missense
PRF1ENSG00000180644ENST00000373209p.L244Vc.730C>GSubstitution - Missense
GDPGP1ENSG00000183208ENST00000329600p.Q373*c.1117C>TSubstitution - Nonsense
MAN2A2ENSG00000196547ENST00000360468p.?c.3190-3C>TUnknown
LRRC28ENSG00000168904ENST00000301981p.T253Tc.759C>TSubstitution - coding silent
MACF1ENSG00000127603ENST00000360115p.A1276Vc.3827C>TSubstitution - Missense
ANAPC5ENSG00000089053ENST00000261819p.L8Fc.22C>TSubstitution - Missense
FBXO2ENSG00000116661ENST00000354287p.Q198Hc.594G>TSubstitution - Missense
XM_375718.1p.?c.86-3C>TUnknown
EBNA1BP2ENSG00000117395ENST00000236051p.G81Vc.242G>TSubstitution - Missense
SPSB3ENSG00000162032ENST00000566339p.V267Vc.801C>TSubstitution - coding silent
ENST00000312105p.V262Mc.784G>ASubstitution - Missense
MSANTD4ENSG00000170903ENST00000301919p.S33fs*10c.97delTDeletion - Frameshift
CEP164ENSG00000110274ENST00000278935p.K366Kc.1098G>ASubstitution - coding silent
ENST00000392849p.P1119Lc.3356C>TSubstitution - Missense
TPRENSG00000047410ENST00000367478p.R439Cc.1315C>TSubstitution - Missense
ENST00000377072_v68p.V504Ic.1510G>ASubstitution - Missense
DNAJC1ENSG00000136770ENST00000376980p.A102Tc.304G>ASubstitution - Missense
ANKRD26ENSG00000107890ENST00000376087p.S605Rc.1815T>ASubstitution - Missense
TMC7ENSG00000170537ENST00000304381p.G236Sc.706G>ASubstitution - Missense
SLC9A3R2ENSG00000065054ENST00000424542p.L277Lc.829C>TSubstitution - coding silent
DNAH3ENSG00000158486ENST00000261383p.P3961fs*16c.11882delCDeletion - Frameshift
LAMC1ENSG00000135862ENST00000258341p.P402Tc.1204C>ASubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.A3288Ac.9864T>CSubstitution - coding silent
OR2L5ENSG00000197454ENST00000355281p.R302*c.904C>TSubstitution - Nonsense
TCTN2ENSG00000168778ENST00000303372p.L241fs*24c.721_722insCInsertion - Frameshift
TPI1ENSG00000111669ENST00000396705p.G174Gc.522C>TSubstitution - coding silent
PTPN6ENSG00000111679ENST00000399448p.G130Gc.390C>TSubstitution - coding silent
DYX1C1ENSG00000256061ENST00000380679p.D282Ec.846T>GSubstitution - Missense
PRCPENSG00000137509ENST00000313010p.I450Ic.1350C>ASubstitution - coding silent
KIF21BENSG00000116852ENST00000332129p.?c.3030+7G>AUnknown
BCL2L10ENSG00000137875ENST00000260442p.V48Mc.142G>ASubstitution - Missense
SGK1ENSG00000118515ENST00000528577p.?c.1123-7T>CUnknown
UPK1AENSG00000105668ENST00000222275p.?c.469-8C>TUnknown
ITKENSG00000113263ENST00000422843p.P156Hc.467C>ASubstitution - Missense
TNIP1ENSG00000145901ENST00000315050p.M1Ic.3G>ASubstitution - Missense
SLC23A1ENSG00000170482ENST00000353963p.C89Cc.267C>TSubstitution - coding silent
MZB1ENSG00000170476ENST00000302125p.V86Vc.258C>ASubstitution - coding silent
MYBENSG00000118513ENST00000341911p.S693Sc.2079C>TSubstitution - coding silent
FILIP1ENSG00000118407ENST00000237172p.L362Sc.1085T>CSubstitution - Missense
MYO19ENSG00000141140ENST00000431794p.S86Sc.258G>ASubstitution - coding silent
MDC1ENSG00000137337ENST00000376406p.T331Ic.992C>TSubstitution - Missense
MYO1GENSG00000136286ENST00000258787p.R650Kc.1949G>ASubstitution - Missense
ENST00000319379p.L4176Lc.12528G>ASubstitution - coding silent
FOXK1ENSG00000164916ENST00000328914p.S137Sc.411C>TSubstitution - coding silent
ENST00000322220p.A26Vc.77C>TSubstitution - Missense
CSNK2BENSG00000204435ENST00000375866p.V7Mc.19G>ASubstitution - Missense
LRFN1ENSG00000128011ENST00000248668p.V505Ic.1513G>ASubstitution - Missense
PWWP2AENSG00000170234ENST00000456329p.N375fs*24c.1124delADeletion - Frameshift
ZNF233ENSG00000159915ENST00000391958p.K534Tc.1601A>CSubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.?c.3662+5deltUnknown
WFS1ENSG00000109501ENST00000226760p.L187Lc.561C>TSubstitution - coding silent
KIFC1ENSG00000237649ENST00000428849p.G339Sc.1015G>ASubstitution - Missense
FAM129CENSG00000167483ENST00000332386p.S390Sc.1170G>ASubstitution - coding silent
ANO8ENSG00000074855ENST00000159087p.A811Tc.2431G>ASubstitution - Missense
BABAM1ENSG00000105393ENST00000359435p.R212Hc.635G>ASubstitution - Missense
VWA3AENSG00000175267ENST00000389398p.D1010Dc.3030C>TSubstitution - coding silent
PSG4ENSG00000243137ENST00000244295p.A6Tc.16G>ASubstitution - Missense
NEBENSG00000183091ENST00000397345p.P6945Sc.20833C>TSubstitution - Missense
FGFR4ENSG00000160867ENST00000292410p.?c.1895+8C>AUnknown
CLDN22ENSG00000177300ENST00000323319p.L73Lc.217T>CSubstitution - coding silent
HK3ENSG00000160883ENST00000292432p.G904Dc.2711G>ASubstitution - Missense
LEMD2ENSG00000161904ENST00000293760p.H360Rc.1079A>GSubstitution - Missense
PKHD1ENSG00000170927ENST00000371117p.L693Lc.2079G>TSubstitution - coding silent
SPTAN1ENSG00000197694ENST00000372731p.N1290Nc.3870C>TSubstitution - coding silent
FAM198BENSG00000164125ENST00000296530p.S294Cc.881C>GSubstitution - Missense
FAM102AENSG00000167106ENST00000373095p.A328Vc.983C>TSubstitution - Missense
USP20ENSG00000136878ENST00000315480p.D550Nc.1648G>ASubstitution - Missense
CDK9ENSG00000136807ENST00000373264p.D323Nc.967G>ASubstitution - Missense
ENST00000356567p.C137Sc.410G>CSubstitution - Missense
DENND3ENSG00000105339ENST00000262585p.E630Kc.1888G>ASubstitution - Missense
ZNF618ENSG00000157657ENST00000374126p.R368Wc.1102C>TSubstitution - Missense
PDCLENSG00000136940ENST00000259467p.E243fs*1c.719_720insGInsertion - Frameshift
DCLK1ENSG00000133083ENST00000379892p.T110Tc.330C>TSubstitution - coding silent
CTNND1ENSG00000198561ENST00000399050p.?c.1894+1G>AUnknown
MEX3DENSG00000181588ENST00000388824p.F345Fc.1035C>TSubstitution - coding silent
LAMA5ENSG00000130702ENST00000370692p.K255*c.763A>TSubstitution - Nonsense
SH3BP2ENSG00000087266ENST00000503393p.S532Sc.1596C>TSubstitution - coding silent
CD164ENSG00000135535ENST00000413644p.?c.332-1G>AUnknown
SLIT3ENSG00000184347ENST00000404867p.L801Lc.2403C>ASubstitution - coding silent
OMA1ENSG00000162600ENST00000371226p.S237Sc.711G>ASubstitution - coding silent
DSG1ENSG00000134760ENST00000257192p.R49Hc.146G>ASubstitution - Missense
STK11ENSG00000118046ENST00000326873p.G171Gc.513C>TSubstitution - coding silent
ABCF2ENSG00000033050ENST00000287844p.T438Ic.1313C>TSubstitution - Missense
HNF1AENSG00000135100ENST00000257555p.G292fs*25c.872_873insCInsertion - Frameshift
KLHL42ENSG00000087448ENST00000381271p.C399fs*44c.1188delGDeletion - Frameshift
SHC1ENSG00000160691ENST00000448116p.V363fs*2c.1087delGDeletion - Frameshift
ENST00000450194p.V574fs*15c.1712delCDeletion - Frameshift
CLUAP1ENSG00000103351ENST00000576634p.R398*c.1192C>TSubstitution - Nonsense
XM_070277.6p.R292Qc.875G>ASubstitution - Missense
OR7G1ENSG00000161807ENST00000293614p.W141Cc.423G>TSubstitution - Missense
KLF6ENSG00000067082ENST00000497571p.G256Rc.766G>ASubstitution - Missense
ABCC4ENSG00000125257ENST00000376887p.G538Vc.1613G>TSubstitution - Missense
NM_033667.1p.A601Tc.1801G>ASubstitution - Missense
FARP1ENSG00000152767ENST00000376586p.S645Sc.1935C>TSubstitution - coding silent
ZNF33AENSG00000189180ENST00000307441p.Y274Yc.822T>CSubstitution - coding silent
PBRM1ENSG00000163939ENST00000356770p.E226Gc.677A>GSubstitution - Missense
STAB1ENSG00000010327ENST00000321725p.P1619Sc.4855C>TSubstitution - Missense
STAB1ENSG00000010327ENST00000321725p.L596Fc.1786C>TSubstitution - Missense
DOK7ENSG00000175920ENST00000340083p.P146fs*100c.432delCDeletion - Frameshift
TNS4ENSG00000131746ENST00000254051p.P392Qc.1175C>ASubstitution - Missense
DOPEY2ENSG00000142197ENST00000399151p.S1469Sc.4407C>TSubstitution - coding silent
ZNF704ENSG00000164684ENST00000327835p.P148Pc.444G>ASubstitution - coding silent
SLC39A4ENSG00000147804ENST00000301305p.L635Lc.1905G>CSubstitution - coding silent
TRRAPENSG00000196367ENST00000359863p.H3366fs*6c.10091delCDeletion - Frameshift
ENTPD6ENSG00000197586ENST00000376652p.Q119Rc.356A>GSubstitution - Missense
DNMT3BENSG00000088305ENST00000201963p.W534*c.1602G>ASubstitution - Nonsense
BCL2ENSG00000171791ENST00000444484p.G5Wc.13G>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.A23603Vc.70808C>TSubstitution - Missense
KAT8ENSG00000103510ENST00000219797p.R325Cc.973C>TSubstitution - Missense
CTU2ENSG00000174177ENST00000453996p.R427Rc.1279C>ASubstitution - coding silent
SLX4ENSG00000188827ENST00000294008p.T760Ic.2279C>TSubstitution - Missense
TFIP11ENSG00000100109ENST00000407690p.?c.648+7G>AUnknown
ENST00000333679p.R477Hc.1430G>ASubstitution - Missense
NM_014422.1p.G66Gc.198C>TSubstitution - coding silent
BCORENSG00000183337ENST00000378444p.S765Yc.2294C>ASubstitution - Missense
ENST00000338994p.A96Vc.287C>TSubstitution - Missense
ZNF157ENSG00000147117ENST00000377073p.E327Dc.981G>TSubstitution - Missense
MUC4ENSG00000145113ENST00000346145p.S1077Nc.3230G>ASubstitution - Missense
ZNF784ENSG00000179922ENST00000325351p.L24Lc.70C>TSubstitution - coding silent
OTOP2ENSG00000183034ENST00000331427p.P14fs*24c.36delCDeletion - Frameshift
MAGED1ENSG00000179222ENST00000375695p.?c.45+8C>TUnknown
XM_497119.1p.F1400fs*4c.4200delTDeletion - Frameshift
FAM65AENSG00000039523ENST00000379312p.A786Ac.2358C>ASubstitution - coding silent
NRN1LENSG00000188038ENST00000339176p.R122Wc.364C>TSubstitution - Missense
CDH3ENSG00000062038ENST00000264012p.M327Ic.981G>ASubstitution - Missense
ENKD1ENSG00000124074ENST00000243878p.P268Lc.803C>TSubstitution - Missense
ENST00000330166p.D4334Dc.13002T>CSubstitution - coding silent
DTX2ENSG00000091073ENST00000324432p.S276Sc.828C>TSubstitution - coding silent
E2F6ENSG00000169016ENST00000381525p.M153Ic.459G>ASubstitution - Missense
ENST00000539592p.G412Gc.1236C>TSubstitution - coding silent
ARID1BENSG00000049618ENST00000275248p.V2078Mc.6232G>ASubstitution - Missense
CLASP1ENSG00000074054ENST00000263710p.A459Tc.1375G>ASubstitution - Missense
LRRFIP1ENSG00000124831ENST00000392000p.L248Lc.744C>TSubstitution - coding silent
ENST00000272666p.R1879Sc.5635C>ASubstitution - Missense
ARHGAP25ENSG00000163219ENST00000409220p.S31Lc.92C>TSubstitution - Missense
TXNRD3ENSG00000197763ENST00000524230p.V506Ic.1516G>ASubstitution - Missense
TIMP4ENSG00000157150ENST00000287814p.M1Tc.2T>CSubstitution - Missense
PPP1R37ENSG00000104866ENST00000221462p.N257Sc.770A>GSubstitution - Missense
MAPK3ENSG00000102882ENST00000263025p.A59Tc.175G>ASubstitution - Missense
PRSS33ENSG00000103355ENST00000293851p.G58Ec.173G>ASubstitution - Missense
TREML1ENSG00000161911ENST00000373127p.T77Tc.231G>ASubstitution - coding silent
MAP1SENSG00000130479ENST00000324096p.I152Ic.456C>TSubstitution - coding silent
CDX4ENSG00000131264ENST00000373514p.?c.502+10C>AUnknown
TTLL8ENSG00000138892ENST00000440475p.L431Lc.1293G>TSubstitution - coding silent
SBF1ENSG00000100241ENST00000390679p.G1665Gc.4995C>TSubstitution - coding silent
ZBED4ENSG00000100426ENST00000216268p.E876Dc.2628G>TSubstitution - Missense
ICAM4ENSG00000105371ENST00000340992p.L101Lc.303G>ASubstitution - coding silent
RAVER1ENSG00000161847ENST00000293677p.G65fs*6c.194delGDeletion - Frameshift
PLXNB1ENSG00000164050ENST00000296440p.R510Rc.1530C>TSubstitution - coding silent
ABCA7ENSG00000064687ENST00000263094p.L85Lc.255G>CSubstitution - coding silent
FAM83AENSG00000147689ENST00000546351p.G289Sc.865G>ASubstitution - Missense
RREB1ENSG00000124782ENST00000379938p.L768Lc.2304G>ASubstitution - coding silent
FAM135AENSG00000082269ENST00000370479p.D869Hc.2605G>CSubstitution - Missense
ENST00000368602_v68p.R123*c.367C>TSubstitution - Nonsense
IL3ENSG00000164399ENST00000296870p.?c.205-5G>AUnknown
FBXW5ENSG00000159069ENST00000428398p.A118Ac.354G>ASubstitution - coding silent
HTR4ENSG00000164270ENST00000362016p.F215Fc.645C>TSubstitution - coding silent
SARDHENSG00000123453ENST00000371868p.V91Mc.271G>ASubstitution - Missense
JUPENSG00000173801ENST00000393930p.Q591*c.1771C>TSubstitution - Nonsense
KRT85ENSG00000135443ENST00000257901p.C12Cc.36C>TSubstitution - coding silent
ADRBK1ENSG00000173020ENST00000308595p.E360Ec.1080G>ASubstitution - coding silent
SRSF4ENSG00000116350ENST00000373795p.?c.363+6G>TUnknown
PLCH2ENSG00000149527ENST00000378486p.S1188Lc.3563C>TSubstitution - Missense
CHRNA7ENSG00000175344ENST00000306901p.V374Mc.1120G>ASubstitution - Missense
CROCCENSG00000058453ENST00000375541p.R485Wc.1453C>TSubstitution - Missense
TMEM39BENSG00000121775ENST00000373634p.S365Sc.1095C>TSubstitution - coding silent
KPNA6ENSG00000025800ENST00000373625p.T394Rc.1181C>GSubstitution - Missense
NM_006341.2p.R124Wc.370C>TSubstitution - Missense
TAS1R3ENSG00000169962ENST00000339381p.E217Qc.649G>CSubstitution - Missense
VPS13DENSG00000048707ENST00000358136p.V4319Vc.12957G>ASubstitution - coding silent
FERMT3ENSG00000149781ENST00000345728p.C435Wc.1305C>GSubstitution - Missense
PYGMENSG00000068976ENST00000164139p.S675Lc.2024C>TSubstitution - Missense
UNKLENSG00000059145ENST00000389221p.Q573Ec.1717C>GSubstitution - Missense
ZNF697ENSG00000143067ENST00000421812p.T284Tc.852G>ASubstitution - coding silent
RDXENSG00000137710ENST00000343115p.W58Rc.172T>CSubstitution - Missense
ENST00000399147_v68p.S292Sc.876A>GSubstitution - coding silent
SSTR5ENSG00000162009ENST00000397547p.V87Ic.259G>ASubstitution - Missense
ASPMENSG00000066279ENST00000367409p.?c.3599-9G>AUnknown
PTPRBENSG00000127329ENST00000334414p.R449*c.1345C>TSubstitution - Nonsense
DFFAENSG00000160049ENST00000377036p.S44Ic.131G>TSubstitution - Missense
STRIP1ENSG00000143093ENST00000369795p.L449Lc.1347A>GSubstitution - coding silent
SMG1ENSG00000157106ENST00000446231p.?c.7778-7C>TUnknown
DNAH10ENSG00000197653ENST00000409039p.R3598Qc.10793G>ASubstitution - Missense
NINENSG00000100503ENST00000245441p.G1330Gc.3990C>TSubstitution - coding silent
ITFG2ENSG00000111203ENST00000228799p.Q244Qc.732G>ASubstitution - coding silent
TRIM46ENSG00000163462ENST00000334634p.A309Vc.926C>TSubstitution - Missense
MUC1ENSG00000185499ENST00000368395p.S110Sc.330C>TSubstitution - coding silent
FBXL22ENSG00000197361ENST00000360587p.R121Rc.363G>ASubstitution - coding silent
ADCK1ENSG00000063761ENST00000238561p.N228Sc.683A>GSubstitution - Missense
XM_371254.3p.G953Gc.2859C>TSubstitution - coding silent
IGDCC3ENSG00000174498ENST00000327987p.R441Cc.1321C>TSubstitution - Missense
MIPOL1ENSG00000151338ENST00000327441p.R309Rc.927T>CSubstitution - coding silent
SLC1A3ENSG00000079215ENST00000265113p.A329Tc.985G>ASubstitution - Missense
SLC45A1ENSG00000162426ENST00000289877p.M218Ic.654G>ASubstitution - Missense
OR2T3ENSG00000196539ENST00000359594p.H231Hc.693C>TSubstitution - coding silent
UBXN11ENSG00000158062ENST00000374222p.F441Fc.1323C>TSubstitution - coding silent
ISG15ENSG00000187608ENST00000379389p.A61fs*22c.174delCDeletion - Frameshift
INO80DENSG00000114933ENST00000403263p.P247Sc.739C>TSubstitution - Missense
SIRPDENSG00000125900ENST00000381623p.L21Fc.61C>TSubstitution - Missense
TAF1CENSG00000103168ENST00000378541p.D817Ec.2451C>ASubstitution - Missense
PARD3BENSG00000116117ENST00000351153p.R1033Qc.3098G>ASubstitution - Missense
MYO15AENSG00000091536ENST00000205890p.S2661Sc.7983G>ASubstitution - coding silent
QRICH2ENSG00000129646ENST00000262765p.C1556Cc.4668C>TSubstitution - coding silent
SLC25A41ENSG00000181240ENST00000321510p.Q34fs*26c.93_94insCInsertion - Frameshift
HRCENSG00000130528ENST00000252825p.?c.1972-8G>AUnknown
ZNF831ENSG00000124203ENST00000371030p.A873Dc.2618C>ASubstitution - Missense
PXMP4ENSG00000101417ENST00000409299p.T52Nc.155C>ASubstitution - Missense
CCDC66ENSG00000180376ENST00000394672p.D472Nc.1414G>ASubstitution - Missense
TNPO3ENSG00000064419ENST00000393245p.A948Vc.2843C>TSubstitution - Missense
GNA13ENSG00000120063ENST00000439174p.N180Nc.540C>TSubstitution - coding silent
TLCD1ENSG00000160606ENST00000292090p.A162Tc.484G>ASubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.G108Gc.324T>CSubstitution - coding silent
ENST00000325084p.G851Sc.2551G>ASubstitution - Missense
FARSAENSG00000179115ENST00000314606p.A148Tc.442G>ASubstitution - Missense
ABCG1ENSG00000160179ENST00000361802p.A343Vc.1028C>TSubstitution - Missense
SEMA4CENSG00000168758ENST00000305476p.L117Lc.349C>TSubstitution - coding silent
TNPO2ENSG00000105576ENST00000425528p.A820Tc.2458G>ASubstitution - Missense
CCDC57ENSG00000176155ENST00000389641p.M1Ic.3G>ASubstitution - Missense
SMCHD1ENSG00000101596ENST00000261598p.R167Kc.500G>ASubstitution - Missense
HMHA1ENSG00000180448ENST00000313093p.?c.1512+4C>TUnknown
C17orf70ENSG00000185504ENST00000327787p.Q635Kc.1903C>ASubstitution - Missense
SNX20ENSG00000167208ENST00000423026p.C12*c.36C>ASubstitution - Nonsense
IKZF3ENSG00000161405ENST00000346872p.T226Ic.677C>TSubstitution - Missense
COL11A2ENSG00000204248ENST00000341947p.?c.2584-10C>TUnknown
WIZENSG00000011451ENST00000263381p.R14Lc.41G>TSubstitution - Missense
PALM3ENSG00000187867ENST00000340790p.A176fs*23c.522delCDeletion - Frameshift
USP20ENSG00000136878ENST00000315480p.V396Ic.1186G>ASubstitution - Missense
HTR1AENSG00000178394ENST00000323865p.P207Pc.621G>ASubstitution - coding silent
C2ENSG00000166278ENST00000299367p.P723Rc.2168C>GSubstitution - Missense
HMGCS1ENSG00000112972ENST00000325110p.V177Ac.530T>CSubstitution - Missense
FASTKD1ENSG00000138399ENST00000453153p.T4fs*5c.10delADeletion - Frameshift
ASTN2ENSG00000148219ENST00000361209p.A1005Vc.3014C>TSubstitution - Missense
SLC25A25ENSG00000148339ENST00000432073p.K133Nc.399G>TSubstitution - Missense
ZNF33AENSG00000189180ENST00000432900p.Y281Yc.843T>CSubstitution - coding silent
HES4ENSG00000188290ENST00000428771p.L114Mc.340C>ASubstitution - Missense
ARHGEF2ENSG00000116584ENST00000368315p.M549Ic.1647G>ASubstitution - Missense
SEMA4AENSG00000196189ENST00000368285p.R225Hc.674G>ASubstitution - Missense
CDK11BENSG00000248333ENST00000317673p.V587Vc.1761G>ASubstitution - coding silent
CTNND1ENSG00000198561ENST00000399050p.G267Wc.799G>TSubstitution - Missense
CTNND1ENSG00000198561ENST00000361391p.G267Wc.799G>TSubstitution - Missense
ITFG3ENSG00000167930ENST00000442458p.L210Lc.630G>ASubstitution - coding silent
SHANK2ENSG00000162105ENST00000423696p.P1101fs*73c.3302delCDeletion - Frameshift
MIA3ENSG00000154305ENST00000340535p.P741fs*14c.2218delCDeletion - Frameshift
ZFP37ENSG00000136866ENST00000553380p.N176fs*24c.527delADeletion - Frameshift
ARHGEF2ENSG00000116584ENST00000361247p.K63fs*11c.186delCDeletion - Frameshift
CCDC66ENSG00000180376ENST00000436465p.D589Nc.1765G>ASubstitution - Missense
UNC13CENSG00000137766ENST00000545554p.K1478fs*3c.4430delADeletion - Frameshift
UPF1ENSG00000005007ENST00000599848p.F847Fc.2541C>TSubstitution - coding silent
ZRANB3ENSG00000121988ENST00000536680p.V343Fc.1027G>TSubstitution - Missense
CACNA1IENSG00000100346ENST00000400164p.?c.4829-3C>TUnknown
MYH4ENSG00000264424ENST00000255381p.R1438Qc.4313G>ASubstitution - Missense
RAI14ENSG00000039560ENST00000397449p.G949Cc.2845G>TSubstitution - Missense
HAP1ENSG00000173805ENST00000310778p.Q362Kc.1084C>ASubstitution - Missense
TAF1ENSG00000147133ENST00000449580p.P787Tc.2359C>ASubstitution - Missense
ENST00000373851p.?c.1905+4G>AUnknown
MYBENSG00000118513ENST00000316528p.T557Tc.1671G>ASubstitution - coding silent
ENST00000392849p.Q452fs*11c.1354delCDeletion - Frameshift
XPO7ENSG00000130227ENST00000433566p.R1067Cc.3199C>TSubstitution - Missense
XPO7ENSG00000130227ENST00000433566p.?c.2045-3C>TUnknown
XM_377962.1p.S191Nc.572G>ASubstitution - Missense
NM_024602.4p.R108*c.322C>TSubstitution - Nonsense
MEMO1ENSG00000162959ENST00000295065p.R104Hc.311G>ASubstitution - Missense
PAOXENSG00000148832ENST00000357296p.S423Sc.1269G>ASubstitution - coding silent
FBXW7ENSG00000109670ENST00000263981p.G397Sc.1189G>ASubstitution - Missense
FBXW7ENSG00000109670ENST00000281708p.G477Sc.1429G>ASubstitution - Missense
XYLT2ENSG00000015532ENST00000017003p.G529fs*78c.1578delCDeletion - Frameshift
ANAPC1ENSG00000153107ENST00000341068p.P1590Pc.4770G>ASubstitution - coding silent
GLYR1ENSG00000140632ENST00000321919p.R381fs*20c.1140delGDeletion - Frameshift
GLB1L3ENSG00000166105ENST00000431683p.R214Hc.641G>ASubstitution - Missense
ITM2BENSG00000136156ENST00000378565p.A189Tc.565G>ASubstitution - Missense
TYW1ENSG00000198874ENST00000359626p.A589Tc.1765G>ASubstitution - Missense
LMAN1LENSG00000140506ENST00000309664p.A526Dc.1577C>ASubstitution - Missense
C1orf65ENSG00000178395ENST00000366875p.L379Mc.1135C>ASubstitution - Missense
FARP1ENSG00000152767ENST00000319562p.T1028Ic.3083C>TSubstitution - Missense
SLC35G1ENSG00000176273ENST00000371408p.V266Ac.797T>CSubstitution - Missense
RAB5BENSG00000111540ENST00000553116p.P9Pc.27C>ASubstitution - coding silent
C15orf39ENSG00000167173ENST00000360639p.S455Nc.1364G>ASubstitution - Missense
ANKRD52ENSG00000139645ENST00000267116p.D518Dc.1554C>TSubstitution - coding silent
GLI1ENSG00000111087ENST00000228682p.G337Sc.1009G>ASubstitution - Missense
RHOGENSG00000177105ENST00000351018p.R49Rc.147C>TSubstitution - coding silent
LMBR1LENSG00000139636ENST00000267102p.E90Kc.268G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000347598p.R83Wc.247C>TSubstitution - Missense
WNK1ENSG00000060237ENST00000537687p.R81Hc.242G>ASubstitution - Missense
NACAENSG00000196531ENST00000454682p.P1846Lc.5537C>TSubstitution - Missense
ZFHX2ENSG00000136367ENST00000419474p.V1140Ic.3418G>ASubstitution - Missense
CEP170BENSG00000099814ENST00000414716p.Q1349Rc.4046A>GSubstitution - Missense
FANCIENSG00000140525ENST00000310775p.Q865*c.2593C>TSubstitution - Nonsense
ZNF543ENSG00000178229ENST00000321545p.V16Vc.48G>ASubstitution - coding silent
NEURL4ENSG00000215041ENST00000315614p.R355Hc.1064G>ASubstitution - Missense
FGF11ENSG00000161958ENST00000293829p.R112Cc.334C>TSubstitution - Missense
DDX28ENSG00000182810ENST00000332395p.D197Nc.589G>ASubstitution - Missense
CAPN15ENSG00000103326ENST00000219611p.I521Mc.1563C>GSubstitution - Missense
TULP4ENSG00000130338ENST00000367097p.D103Dc.309C>TSubstitution - coding silent
GPNMBENSG00000136235ENST00000381990p.G352fs*5c.1049_1050insAInsertion - Frameshift
NUDT6ENSG00000170917ENST00000304430p.L272Lc.814C>TSubstitution - coding silent
RLTPRENSG00000159753ENST00000334583p.E1058Kc.3172G>ASubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.H2712Nc.8134C>ASubstitution - Missense
NUPL2ENSG00000136243ENST00000258742p.S268Pc.802T>CSubstitution - Missense
SNX8ENSG00000106266ENST00000222990p.?c.622-5G>AUnknown
AGAP1ENSG00000157985ENST00000304032p.N761Nc.2283C>TSubstitution - coding silent
USP42ENSG00000106346ENST00000306177p.S1022Sc.3066C>TSubstitution - coding silent
ARHGAP25ENSG00000163219ENST00000409202p.S38Lc.113C>TSubstitution - Missense
SEMA5BENSG00000082684ENST00000357599p.R1146Qc.3437G>ASubstitution - Missense
KIAA1407ENSG00000163617ENST00000295878p.R203Hc.608G>ASubstitution - Missense
ZNF629ENSG00000102870ENST00000262525p.C667Cc.2001C>TSubstitution - coding silent
ATXN2LENSG00000168488ENST00000395547p.P928Lc.2783C>TSubstitution - Missense
ENST00000305663p.T349Tc.1047G>ASubstitution - coding silent
MAPK3ENSG00000102882ENST00000263025p.G33Ec.98G>ASubstitution - Missense
PLEKHB2ENSG00000115762ENST00000234115p.R63Qc.188G>ASubstitution - Missense
BCAMENSG00000187244ENST00000270233p.S367Nc.1100G>ASubstitution - Missense
ZC3H4ENSG00000130749ENST00000253048p.S466Fc.1397C>TSubstitution - Missense
APEX2ENSG00000169188ENST00000374987p.A160Vc.479C>TSubstitution - Missense
ZNF90ENSG00000213988ENST00000418063p.?c.130+2T>CUnknown
CYP8B1ENSG00000180432ENST00000316161p.Q27Kc.79C>ASubstitution - Missense
CCDC13ENSG00000244607ENST00000310232p.A677Vc.2030C>TSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.V2569Vc.7707G>ASubstitution - coding silent
SGSM3ENSG00000100359ENST00000248929p.N335Nc.1005C>TSubstitution - coding silent
SSTR3ENSG00000183473ENST00000328544p.R186Rc.558C>TSubstitution - coding silent
EP300ENSG00000100393ENST00000263253p.?c.3591-5G>AUnknown
CEP85LENSG00000111860ENST00000368488p.K554fs*16c.1662delADeletion - Frameshift
CACNA1IENSG00000100346ENST00000402142p.V1310Mc.3928G>ASubstitution - Missense
ICAM5ENSG00000105376ENST00000221980p.A655Sc.1963G>TSubstitution - Missense
SALL3ENSG00000256463ENST00000537592p.G1266Gc.3798C>TSubstitution - coding silent
CSNK1A1ENSG00000113712ENST00000377843p.T323Ic.968C>TSubstitution - Missense
ABCG8ENSG00000143921ENST00000272286p.E500fs*22c.1495delGDeletion - Frameshift
ACBD4ENSG00000181513ENST00000431281p.Q211*c.631C>TSubstitution - Nonsense
ACBD4ENSG00000181513ENST00000398322p.A198Vc.593C>TSubstitution - Missense
SEC24AENSG00000113615ENST00000398844p.R457Qc.1370G>ASubstitution - Missense
MKS1ENSG00000011143ENST00000337050p.F449fs*41c.1346delTDeletion - Frameshift
ZBBXENSG00000169064ENST00000455345p.A177Tc.529G>ASubstitution - Missense
EDF1ENSG00000107223ENST00000224073p.R33Kc.98G>ASubstitution - Missense
LCN9ENSG00000148386ENST00000277526p.L161Ic.481C>ASubstitution - Missense
PIGWENSG00000184886ENST00000328396p.G293Gc.879C>TSubstitution - coding silent
MYBENSG00000118513ENST00000367814p.T557Tc.1671G>ASubstitution - coding silent
SGK1ENSG00000118515ENST00000237305p.I42Fc.124A>TSubstitution - Missense
ENST00000571252_v68p.G650Vc.1949G>TSubstitution - Missense
NACADENSG00000136274ENST00000490531p.D1314Yc.3940G>TSubstitution - Missense
ZMIZ2ENSG00000122515ENST00000309315p.?c.2412+1G>AUnknown
AFF2ENSG00000155966ENST00000370460p.Y452Cc.1355A>GSubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.T959Ic.2876C>TSubstitution - Missense
BAG6ENSG00000204463ENST00000404765p.A1104Vc.3311C>TSubstitution - Missense
CFTRENSG00000001626ENST00000003084p.F337Fc.1011C>TSubstitution - coding silent
SGSM1ENSG00000167037ENST00000400358p.R1046Hc.3137G>ASubstitution - Missense
POLMENSG00000122678ENST00000242248p.A66Vc.197C>TSubstitution - Missense
UBFD1ENSG00000103353ENST00000219638p.W138fs*46c.406delCDeletion - Frameshift
ARHGEF1ENSG00000076928ENST00000337665p.T575Mc.1724C>TSubstitution - Missense
ILVBLENSG00000105135ENST00000263383p.W551Rc.1651T>CSubstitution - Missense
CHERPENSG00000085872ENST00000546361p.C772Yc.2315G>ASubstitution - Missense
ENST00000251268_v61p.R2307Hc.6920G>ASubstitution - Missense
MSH5ENSG00000204410ENST00000375742p.S849Nc.2546G>ASubstitution - Missense
GPR111ENSG00000164393ENST00000398742p.I586Tc.1757T>CSubstitution - Missense
CLCA2ENSG00000137975ENST00000370565p.A709Vc.2126C>TSubstitution - Missense
DDHD1ENSG00000100523ENST00000357758p.S332Fc.995C>TSubstitution - Missense
ESPNENSG00000187017ENST00000377828p.?c.2326-2_2326delagGUnknown
RYR3ENSG00000198838ENST00000389232p.T2326Ic.6977C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.G1299Gc.3897C>TSubstitution - coding silent
ENST00000356127p.G1345Gc.4035C>TSubstitution - coding silent
KLF7ENSG00000118263ENST00000309446p.R75Hc.224G>ASubstitution - Missense
TBKBP1ENSG00000198933ENST00000361722p.?c.298-4G>AUnknown
MUC16ENSG00000181143ENST00000397910p.I7903Mc.23709A>GSubstitution - Missense
ATP5G1ENSG00000159199ENST00000355938p.R15Hc.44G>ASubstitution - Missense
C1orf173ENSG00000178965ENST00000326665p.V431Lc.1291G>TSubstitution - Missense
ENSG00000134602ENST00000394334p.L169Mc.505C>ASubstitution - Missense
UNC80ENSG00000144406ENST00000439458p.?c.299-4G>AUnknown
CDRT1ENSG00000241322ENST00000395906p.V9Ic.25G>ASubstitution - Missense
WDR81ENSG00000167716ENST00000437219p.A142Ac.426G>TSubstitution - coding silent
IGLON5ENSG00000142549ENST00000270642p.R284Rc.852G>ASubstitution - coding silent
EVPLENSG00000167880ENST00000301607p.L405Lc.1215G>ASubstitution - coding silent
MESTENSG00000106484ENST00000223215p.E155Ec.465G>ASubstitution - coding silent
CPA4ENSG00000128510ENST00000222482p.A128Vc.383C>TSubstitution - Missense
TPM2ENSG00000198467ENST00000360958p.L110Lc.330G>ASubstitution - coding silent
GCC1ENSG00000179562ENST00000321407p.R694Qc.2081G>ASubstitution - Missense
ACO1ENSG00000122729ENST00000309951p.R694Hc.2081G>ASubstitution - Missense
GOSR1ENSG00000108587ENST00000225724p.S217Sc.651C>TSubstitution - coding silent
NM_015024.2p.?c.2042-3C>TUnknown
FLNBENSG00000136068ENST00000295956p.A2540Vc.7619C>TSubstitution - Missense
SMC5ENSG00000198887ENST00000361138p.?c.2665-10C>TUnknown
DUS1LENSG00000169718ENST00000306796p.E466Qc.1396G>CSubstitution - Missense
SETBP1ENSG00000152217ENST00000282030p.H1429Hc.4287C>TSubstitution - coding silent
GPS1ENSG00000169727ENST00000355130p.L209Lc.627G>TSubstitution - coding silent
ENST00000582115p.R812Hc.2435G>ASubstitution - Missense
TSPYL5ENSG00000180543ENST00000322128p.D119Dc.357C>TSubstitution - coding silent
XM_043272.9p.W282*c.846G>ASubstitution - Nonsense
PDE9AENSG00000160191ENST00000291539p.?c.140+8C>TUnknown
ITGB2ENSG00000160255ENST00000397852p.L258Lc.774G>ASubstitution - coding silent
MX1ENSG00000157601ENST00000398598p.R443*c.1327A>TSubstitution - Nonsense
RRP1BENSG00000160208ENST00000340648p.Q397Ec.1189C>GSubstitution - Missense
ENST00000420871_v68p.E772Kc.2314G>ASubstitution - Missense
HRH4ENSG00000134489ENST00000256906p.V293Ic.877G>ASubstitution - Missense
SBNO2ENSG00000064932ENST00000361757p.?c.2379+4C>TUnknown
SLC16A3ENSG00000141526ENST00000392341p.A434Vc.1301C>TSubstitution - Missense
IFNAR2ENSG00000159110ENST00000404220p.W54*c.161G>ASubstitution - Nonsense
ARAP2ENSG00000047365ENST00000303965p.I1532Ic.4596C>ASubstitution - coding silent
ATP2A3ENSG00000074370ENST00000352011p.E245Kc.733G>ASubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.G1238Gc.3714C>TSubstitution - coding silent
LAMB2ENSG00000172037ENST00000305544p.E633Dc.1899G>TSubstitution - Missense
NISCHENSG00000010322ENST00000345716p.R936Sc.2806C>ASubstitution - Missense
NISCHENSG00000010322ENST00000345716p.N939Nc.2817C>TSubstitution - coding silent
UBA7ENSG00000182179ENST00000333486p.L974Mc.2920C>ASubstitution - Missense
APPENSG00000142192ENST00000346798p.A524Tc.1570G>ASubstitution - Missense
RHPN1ENSG00000158106ENST00000289013p.T200Ic.599C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.A13271Tc.39811G>ASubstitution - Missense
ARVCFENSG00000099889ENST00000263207p.C442Cc.1326C>TSubstitution - coding silent
METTL8ENSG00000123600ENST00000375258p.T91Ic.272C>TSubstitution - Missense
MICAL3ENSG00000243156ENST00000441493p.C1261Yc.3782G>ASubstitution - Missense
MYH13ENSG00000006788ENST00000252172p.R1716Hc.5147G>ASubstitution - Missense
HECW2ENSG00000138411ENST00000260983p.S1294Nc.3881G>ASubstitution - Missense
SLC5A6ENSG00000138074ENST00000310574p.A260Ac.780C>ASubstitution - coding silent
ENST00000405167p.T2207Tc.6621C>TSubstitution - coding silent
HELZ2ENSG00000130589ENST00000467148p.R2615Pc.7844G>CSubstitution - Missense
AP1B1ENSG00000100280ENST00000357586p.N788Kc.2364C>ASubstitution - Missense
ALCAMENSG00000170017ENST00000306107p.?c.459+3A>GUnknown
ZNF276ENSG00000158805ENST00000289816p.R335Qc.1004G>ASubstitution - Missense
CPNE7ENSG00000178773ENST00000268720p.L594Lc.1782G>TSubstitution - coding silent
SLC2A4ENSG00000181856ENST00000317370p.P417Lc.1250C>TSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.S1956Fc.5867C>TSubstitution - Missense
ENST00000349637p.P2046Tc.6136C>ASubstitution - Missense
B4GALNT4ENSG00000182272ENST00000329962p.Y242*c.726C>ASubstitution - Nonsense
SORBS1ENSG00000095637ENST00000371228p.V229Mc.685G>ASubstitution - Missense
ACVRL1ENSG00000139567ENST00000388922p.R47Pc.140G>CSubstitution - Missense
CACNA1CENSG00000151067ENST00000402845p.R113Wc.337C>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000399634p.R83Wc.247C>TSubstitution - Missense
DUSP6ENSG00000139318ENST00000279488p.I50Vc.148A>GSubstitution - Missense
KIRRELENSG00000183853ENST00000359209p.P665Lc.1994C>TSubstitution - Missense
RSF1ENSG00000048649ENST00000308488p.K1390Kc.4170G>ASubstitution - coding silent
GDPD5ENSG00000158555ENST00000336898p.T474Sc.1420A>TSubstitution - Missense
PAAF1ENSG00000175575ENST00000310571p.N231Nc.693C>TSubstitution - coding silent
HNRNPUL2ENSG00000214753ENST00000301785p.Q147Qc.441G>ASubstitution - coding silent
KDELC1ENSG00000134901ENST00000376004p.R92*c.274C>TSubstitution - Nonsense
MYH6ENSG00000197616ENST00000356287p.A1887Ac.5661G>TSubstitution - coding silent
WDR74ENSG00000133316ENST00000529106p.E347Kc.1039G>ASubstitution - Missense
IPO4ENSG00000196497ENST00000354464p.L395Lc.1185G>ASubstitution - coding silent
MS4A14ENSG00000166928ENST00000300187p.S118Yc.353C>ASubstitution - Missense
PYROXD2ENSG00000119943ENST00000370575p.P449fs*5c.1346delCDeletion - Frameshift
ENST00000336486p.L546Lc.1636C>TSubstitution - coding silent
USH1CENSG00000006611ENST00000005226p.T496Mc.1487C>TSubstitution - Missense
NBEAENSG00000172915ENST00000379922p.R244Wc.730C>TSubstitution - Missense
KIAA1522ENSG00000162522ENST00000373480p.T199Ic.596C>TSubstitution - Missense
SF1ENSG00000168066ENST00000377390p.P558Hc.1673C>ASubstitution - Missense
FERMT3ENSG00000149781ENST00000345728p.P136Pc.408C>TSubstitution - coding silent
CST6ENSG00000175315ENST00000312134p.G11fs*79c.30delGDeletion - Frameshift
PLCB3ENSG00000149782ENST00000279230p.L153Lc.459G>ASubstitution - coding silent
FOSL1ENSG00000175592ENST00000312562p.P88Pc.264G>ASubstitution - coding silent
SOX6ENSG00000110693ENST00000527619p.Q695Hc.2085G>TSubstitution - Missense
MFN2ENSG00000116688ENST00000235329p.N683Kc.2049C>ASubstitution - Missense
CAPN3ENSG00000092529ENST00000397163p.C414Yc.1241G>ASubstitution - Missense
CAPN3ENSG00000092529ENST00000357568p.C414Yc.1241G>ASubstitution - Missense
SF3B4ENSG00000143368ENST00000271628p.?c.914-6T>CUnknown
FCGR1AENSG00000150337ENST00000369168p.R175Hc.524G>ASubstitution - Missense
PLA2G4DENSG00000159337ENST00000290472p.D541Gc.1622A>GSubstitution - Missense
PAMR1ENSG00000149090ENST00000278360p.?c.250+2T>AUnknown
DLSTENSG00000119689ENST00000334220p.S282Sc.846G>ASubstitution - coding silent
PAPLNENSG00000100767ENST00000340738p.P343Sc.1027C>TSubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.V179Vc.537C>TSubstitution - coding silent
ARHGAP22ENSG00000128805ENST00000417912p.E193Dc.579G>TSubstitution - Missense
ARMC4ENSG00000169126ENST00000305242p.?c.576-1G>AUnknown
ALKBH8ENSG00000137760ENST00000260318p.?c.701-10T>GUnknown
BUD13ENSG00000137656ENST00000260210p.R481Kc.1442G>ASubstitution - Missense
TTLL10ENSG00000162571ENST00000379290p.C522Cc.1566C>TSubstitution - coding silent
HFE2ENSG00000168509ENST00000336751p.R131Wc.391C>TSubstitution - Missense
CGNL1ENSG00000128849ENST00000281282p.G340Vc.1019G>TSubstitution - Missense
FMODENSG00000122176ENST00000354955p.T258Tc.774C>TSubstitution - coding silent
ENST00000339192p.S346Yc.1037C>ASubstitution - Missense
LAG3ENSG00000089692ENST00000203629p.G457Dc.1370G>ASubstitution - Missense
USP28ENSG00000048028ENST00000003302p.A837Tc.2509G>ASubstitution - Missense
RNASELENSG00000135828ENST00000367559p.L226Lc.676C>TSubstitution - coding silent
ATP8B2ENSG00000143515ENST00000368489p.T534Tc.1602C>TSubstitution - coding silent
FDPSENSG00000160752ENST00000368356p.A277Tc.829G>ASubstitution - Missense
ITPR2ENSG00000123104ENST00000381340p.L2417fs*1c.7250delTDeletion - Frameshift
S100A13ENSG00000189171ENST00000339556p.D92Nc.274G>ASubstitution - Missense
ATP2B4ENSG00000058668ENST00000367218p.V780Mc.2338G>ASubstitution - Missense
RSL24D1ENSG00000137876ENST00000260443p.M20Vc.58A>GSubstitution - Missense
CACNA1SENSG00000081248ENST00000362061p.E1327Kc.3979G>ASubstitution - Missense
DIS3LENSG00000166938ENST00000319212p.Q764Hc.2292G>TSubstitution - Missense
RPS6KA5ENSG00000100784ENST00000261991p.R307Cc.919C>TSubstitution - Missense
INADLENSG00000132849ENST00000371158p.V1169Ic.3505G>ASubstitution - Missense
LEPRENSG00000116678ENST00000349533p.S343Rc.1029T>ASubstitution - Missense
PER3ENSG00000049246ENST00000361923p.R266Qc.797G>ASubstitution - Missense
THEMIS2ENSG00000130775ENST00000373925p.R145Rc.435C>TSubstitution - coding silent
ENST00000262969p.?c.320+9C>AUnknown
NM_007181p.C607Cc.1821C>TSubstitution - coding silent
PKN1ENSG00000123143ENST00000342216p.A151fs*4c.447delGDeletion - Frameshift
ENST00000248069p.?c.571-3C>AUnknown
CC2D1AENSG00000132024ENST00000318003p.K746Kc.2238G>ASubstitution - coding silent
PSG4ENSG00000243137ENST00000405312p.A6Tc.16G>ASubstitution - Missense
FGFR4ENSG00000160867ENST00000292408p.T760Tc.2280C>TSubstitution - coding silent
F12ENSG00000131187ENST00000253496p.Q239Qc.717G>ASubstitution - coding silent
ZNF618ENSG00000157657ENST00000288466p.R275Wc.823C>TSubstitution - Missense
DDX60ENSG00000137628ENST00000393743p.D1691Dc.5073C>TSubstitution - coding silent
C9orf43ENSG00000157653ENST00000374165p.T448Ic.1343C>TSubstitution - Missense
USP20ENSG00000136878ENST00000372429p.D550Nc.1648G>ASubstitution - Missense
SLC25A25ENSG00000148339ENST00000373064p.K113Nc.339G>TSubstitution - Missense
USP20ENSG00000136878ENST00000315480p.S686Nc.2057G>ASubstitution - Missense
DDAH2ENSG00000213722ENST00000375787p.T256Tc.768C>TSubstitution - coding silent
OR51I2ENSG00000187918ENST00000341449p.C169Cc.507C>TSubstitution - coding silent
COL27A1ENSG00000196739ENST00000356083p.A522Ac.1566C>TSubstitution - coding silent
PSRC1ENSG00000134222ENST00000369904p.E115Qc.343G>CSubstitution - Missense
RAD51AP1ENSG00000111247ENST00000228843p.R293Hc.878G>ASubstitution - Missense
RAD51AP1ENSG00000111247ENST00000543041p.R158Hc.473G>ASubstitution - Missense
ITGA7ENSG00000135424ENST00000452168p.S603Sc.1809G>ASubstitution - coding silent
NXF1ENSG00000162231ENST00000531709p.?c.29-8A>TUnknown
BCL9LENSG00000186174ENST00000334801p.P1119Lc.3356C>TSubstitution - Missense
NFASCENSG00000163531ENST00000367171p.M822Ic.2466G>ASubstitution - Missense
BCL9LENSG00000186174ENST00000334801p.Q452fs*11c.1354delCDeletion - Frameshift
SERINC2ENSG00000168528ENST00000373710p.E321fs*36c.957delCDeletion - Frameshift
STXBP5ENSG00000164506ENST00000392291p.G159fs*9c.472delGDeletion - Frameshift
CYP2A7ENSG00000198077ENST00000291764p.A250Ac.750A>GSubstitution - coding silent
STRN4ENSG00000090372ENST00000391910p.E278Ec.834G>ASubstitution - coding silent
CACNA1HENSG00000196557ENST00000348261p.V179Vc.537C>TSubstitution - coding silent
FBXW10ENSG00000171931ENST00000308799p.C255Cc.765C>TSubstitution - coding silent
SLC12A4ENSG00000124067ENST00000541864p.S437Sc.1311C>TSubstitution - coding silent
ENST00000378024_v70p.V589Vc.1767C>TSubstitution - coding silent
DNAH17ENSG00000187775ENST00000389840p.R3360Qc.10079G>ASubstitution - Missense
ZNF407ENSG00000215421ENST00000577538p.G1692Gc.5076C>TSubstitution - coding silent
GRM3ENSG00000198822ENST00000361669p.T758Mc.2273C>TSubstitution - Missense
OXR1ENSG00000164830ENST00000517566p.T569Mc.1706C>TSubstitution - Missense
ENST00000379921p.A432Vc.1295C>TSubstitution - Missense
ENST00000396788p.G889fs*20c.2666delGDeletion - Frameshift
SF3B3ENSG00000189091ENST00000302516p.R463Cc.1387C>TSubstitution - Missense
ADCY1ENSG00000164742ENST00000297323p.A817Tc.2449G>ASubstitution - Missense
BCORL1ENSG00000085185ENST00000218147p.P1681fs*20c.5036delCDeletion - Frameshift
SACSENSG00000151835ENST00000382298p.K1717fs*8c.5151delADeletion - Frameshift
PCLOENSG00000186472ENST00000333891p.A3514Vc.10541C>TSubstitution - Missense
TBC1D32ENSG00000146350ENST00000398212p.R884Qc.2651G>ASubstitution - Missense
PEF1ENSG00000162517ENST00000373703p.G83Sc.247G>ASubstitution - Missense
LENG8ENSG00000167615ENST00000326764p.S412Nc.1235G>ASubstitution - Missense
PTH2RENSG00000144407ENST00000272847p.V150Ic.448G>ASubstitution - Missense
ENST00000238522p.V2547Vc.7641G>CSubstitution - coding silent
SULF1ENSG00000137573ENST00000260128p.A75fs*8c.217delGDeletion - Frameshift
ENST00000394167p.T897fs*11c.2682_2683insAInsertion - Frameshift
GNRHRENSG00000109163ENST00000226413p.R262Wc.784C>TSubstitution - Missense
TSSK6ENSG00000178093ENST00000360913p.R149Hc.446G>ASubstitution - Missense
BTBD3ENSG00000132640ENST00000378226p.R391Cc.1171C>TSubstitution - Missense
SHC1ENSG00000160691ENST00000368453p.V253fs*2c.757delGDeletion - Frameshift
KAT6AENSG00000083168ENST00000265713p.R1877Hc.5630G>ASubstitution - Missense
OAS2ENSG00000111335ENST00000342315p.V464Mc.1390G>ASubstitution - Missense
ATXN2ENSG00000204842ENST00000377617p.S1213Sc.3639G>ASubstitution - coding silent
ENST00000338603p.L246Lc.738C>TSubstitution - coding silent
HNRNPFENSG00000169813ENST00000337970p.T286Tc.858C>TSubstitution - coding silent
SIN3AENSG00000169375ENST00000394947p.L373Lc.1119G>ASubstitution - coding silent
ENST00000338010_v68p.A107Dc.320C>ASubstitution - Missense
NFE2ENSG00000123405ENST00000312156p.V292Lc.874G>TSubstitution - Missense
SLC25A44ENSG00000160785ENST00000359511p.R44Rc.132G>ASubstitution - coding silent
PIGQENSG00000007541ENST00000026218p.R502Wc.1504C>TSubstitution - Missense
FGD5ENSG00000154783ENST00000285046p.E1117fs*63c.3345_3346insAInsertion - Frameshift
VILLENSG00000136059ENST00000283713p.Q247*c.739C>TSubstitution - Nonsense
ABCB5ENSG00000004846ENST00000258738p.L297Wc.890T>GSubstitution - Missense
PLEKHG1ENSG00000120278ENST00000358517p.S24Ic.71G>TSubstitution - Missense
FAT4ENSG00000196159ENST00000394329p.G195Gc.585C>TSubstitution - coding silent
HOXA4ENSG00000197576ENST00000360046p.R282Qc.845G>ASubstitution - Missense
IGF2RENSG00000197081ENST00000356956p.T1337Tc.4011C>ASubstitution - coding silent
HIVEP2ENSG00000010818ENST00000012134p.M110Ic.330G>ASubstitution - Missense
MYO7BENSG00000169994ENST00000428314p.L1422Lc.4266G>ASubstitution - coding silent
IHHENSG00000163501ENST00000295731p.G201Dc.602G>ASubstitution - Missense
FLNAENSG00000196924ENST00000369850p.G1420Sc.4258G>ASubstitution - Missense
CUL7ENSG00000044090ENST00000265348p.E1357*c.4069G>TSubstitution - Nonsense
TMEM248ENSG00000106609ENST00000341567p.W166*c.498G>ASubstitution - Nonsense
RSAD2ENSG00000134321ENST00000382040p.V223Ic.667G>ASubstitution - Missense
CERKENSG00000100422ENST00000216264p.S201Sc.603C>TSubstitution - coding silent
MKRN2ENSG00000075975ENST00000170447p.G43Cc.127G>TSubstitution - Missense
TXNRD3ENSG00000197763ENST00000383572p.Q56Rc.167A>GSubstitution - Missense
OSBPL11ENSG00000144909ENST00000296220p.I444Vc.1330A>GSubstitution - Missense
ARHGAP8ENSG00000241484ENST00000389774p.?c.970+4C>TUnknown
ITGALENSG00000005844ENST00000356798p.L342Mc.1024C>ASubstitution - Missense
TBC1D10BENSG00000169221ENST00000409939p.?c.1452+9C>AUnknown
ATP2A1ENSG00000196296ENST00000357084p.?c.219+7G>CUnknown
QPRTENSG00000103485ENST00000395384p.?c.14-3C>TUnknown
CORO1AENSG00000102879ENST00000219150p.?c.451+8G>CUnknown
ENST00000451531_v68p.R145Gc.433A>GSubstitution - Missense
NM_019085.1p.N9Hc.25A>CSubstitution - Missense
ENTPD2ENSG00000054179ENST00000355097p.?c.235+1G>AUnknown
COLGALT1ENSG00000130309ENST00000252599p.?c.950-1G>AUnknown
MED12ENSG00000184634ENST00000374080p.V1197Lc.3589G>CSubstitution - Missense
FKBP8ENSG00000105701ENST00000453489p.V47fs*32c.139delGDeletion - Frameshift
IL2RGENSG00000147168ENST00000374202p.Q144*c.430C>TSubstitution - Nonsense
PIM3ENSG00000198355ENST00000360612p.G16fs*8c.43delCDeletion - Frameshift
HMGCRENSG00000113161ENST00000511206p.Q432*c.1294C>TSubstitution - Nonsense
FYCO1ENSG00000163820ENST00000296137p.H727Hc.2181C>TSubstitution - coding silent
RALBP1ENSG00000017797ENST00000019317p.R448fs*4c.1339_1340delAADeletion - Frameshift
LAMA1ENSG00000101680ENST00000389658p.A14Tc.40G>ASubstitution - Missense
CMYA5ENSG00000164309ENST00000446378p.?c.11111-3C>TUnknown
SV2CENSG00000122012ENST00000502798p.V585Dc.1754T>ASubstitution - Missense
RAVER1ENSG00000161847ENST00000293677p.Y745Yc.2235C>TSubstitution - coding silent
MAST4ENSG00000069020ENST00000405643p.P1554fs*18c.4657delCDeletion - Frameshift
SBF1ENSG00000100241ENST00000390679p.C669Yc.2006G>ASubstitution - Missense
APOBEC3GENSG00000239713ENST00000407997p.C346Yc.1037G>ASubstitution - Missense
SLC22A5ENSG00000197375ENST00000435065p.Y137Yc.411C>TSubstitution - coding silent
GRAMD3ENSG00000155324ENST00000285689p.L375Lc.1123C>TSubstitution - coding silent
SLC6A18ENSG00000164363ENST00000324642p.D324Yc.970G>TSubstitution - Missense
SETXENSG00000107290ENST00000224140p.S213Fc.638C>TSubstitution - Missense
KCNH4ENSG00000089558ENST00000264661p.P393Pc.1179G>ASubstitution - coding silent
ENST00000344380p.P168Hc.503C>ASubstitution - Missense
ZBBXENSG00000169064ENST00000392766p.A177Tc.529G>ASubstitution - Missense
HTR4ENSG00000164270ENST00000354217p.F201Fc.603C>TSubstitution - coding silent
NM_023038.2p.A337Vc.1010C>TSubstitution - Missense
SGK1ENSG00000118515ENST00000413996p.I56Fc.166A>TSubstitution - Missense
NPHS1ENSG00000161270ENST00000378910p.P1185fs*52c.3554delCDeletion - Frameshift
ABCA13ENSG00000179869ENST00000435803p.L4231Lc.12693G>ASubstitution - coding silent
PDPRENSG00000090857ENST00000288050p.H818Hc.2454C>TSubstitution - coding silent
COBLENSG00000106078ENST00000395540p.N449fs*20c.1345_1346insCAInsertion - Frameshift
AGAP3ENSG00000133612ENST00000397238p.Q59fs*71c.168_169insCInsertion - Frameshift
HBEGFENSG00000113070ENST00000230990p.R105fs*54c.311_312insAInsertion - Frameshift
AIF1ENSG00000204472ENST00000376059p.?c.155-1G>TUnknown
BLOC1S4ENSG00000186222ENST00000320776p.C211Cc.633C>TSubstitution - coding silent
SGSM1ENSG00000167037ENST00000400359p.R1101Hc.3302G>ASubstitution - Missense
PIWIL3ENSG00000184571ENST00000332271p.A129Tc.385G>ASubstitution - Missense
C2CD4CENSG00000183186ENST00000332235p.L37fs*91c.109_110insAInsertion - Frameshift
XM_031689.7p.R1575fs*20c.4722_4723insAInsertion - Frameshift
TRNAU1APENSG00000180098ENST00000373830p.?c.694-3C>TUnknown
ARHGAP29ENSG00000137962ENST00000260526p.A812Vc.2435C>TSubstitution - Missense
INADLENSG00000132849ENST00000371158p.?c.1626+7T>AUnknown
ENO1ENSG00000074800ENST00000234590p.D136Nc.406G>ASubstitution - Missense
HCN2ENSG00000099822ENST00000251287p.M425Ic.1275G>TSubstitution - Missense
MYO1BENSG00000128641ENST00000392318p.S730fs*4c.2182delADeletion - Frameshift
YWHAEENSG00000108953ENST00000264335p.C192Yc.575G>ASubstitution - Missense
AZU1ENSG00000172232ENST00000233997p.Q139*c.415C>TSubstitution - Nonsense
EMR1ENSG00000174837ENST00000312053p.K362Nc.1086A>CSubstitution - Missense
SLC25A41ENSG00000181240ENST00000321510p.T346Mc.1037C>TSubstitution - Missense
FBN3ENSG00000142449ENST00000270509p.E2185Ec.6555G>ASubstitution - coding silent
POLRMTENSG00000099821ENST00000588649p.L680Lc.2040C>TSubstitution - coding silent
DOT1LENSG00000104885ENST00000398665p.A897Vc.2690C>TSubstitution - Missense
EXOC7ENSG00000182473ENST00000357231p.?c.1818+9G>TUnknown
ACOX1ENSG00000161533ENST00000301608p.H48Yc.142C>TSubstitution - Missense
SREBF1ENSG00000072310ENST00000355815p.Q241fs*122c.716_717insCInsertion - Frameshift
PLXNA4ENSG00000221866ENST00000321063p.R99Hc.296G>ASubstitution - Missense
CASS4ENSG00000087589ENST00000360314p.A120Vc.359C>TSubstitution - Missense
HIC1ENSG00000177374ENST00000399849p.R12Kc.35G>ASubstitution - Missense
SGSM2ENSG00000141258ENST00000268989p.C658Cc.1974C>TSubstitution - coding silent
RFT1ENSG00000163933ENST00000296292p.?c.266+10G>CUnknown
DMTNENSG00000158856ENST00000265800p.?c.958-10G>AUnknown
C19orf26ENSG00000099625ENST00000215376p.A345Sc.1033G>TSubstitution - Missense
ATG4DENSG00000130734ENST00000309469p.A54fs*17c.154delCDeletion - Frameshift
POLR2EENSG00000099817ENST00000215587p.Q19Hc.57G>TSubstitution - Missense
HGSENSG00000185359ENST00000329138p.S588Nc.1763G>ASubstitution - Missense
GPS1ENSG00000169727ENST00000355130p.R111Wc.331C>TSubstitution - Missense
NOTUMENSG00000185269ENST00000409678p.V225Vc.675G>ASubstitution - coding silent
SHROOM3ENSG00000138771ENST00000296043p.E1208Dc.3624G>TSubstitution - Missense
XM_290799.5p.P772Sc.2314C>TSubstitution - Missense
ITGB2ENSG00000160255ENST00000397852p.A308Tc.922G>ASubstitution - Missense
ABCG1ENSG00000160179ENST00000398437p.A489Vc.1466C>TSubstitution - Missense
GCDHENSG00000105607ENST00000457854p.N392fs*9c.1167delGDeletion - Frameshift
IFNAR2ENSG00000159110ENST00000382241p.W54*c.161G>ASubstitution - Nonsense
TNS4ENSG00000131746ENST00000254051p.Q710*c.2128C>TSubstitution - Nonsense
SCRIBENSG00000180900ENST00000356994p.R346Hc.1037G>ASubstitution - Missense
ADCK5ENSG00000173137ENST00000308860p.A346Pc.1036G>CSubstitution - Missense
NM_022740p.I227Tc.680T>CSubstitution - Missense
C7orf49ENSG00000122783ENST00000393114p.G130fs*19c.389delGDeletion - Frameshift
TTNENSG00000155657ENST00000342992p.G17977Dc.53930G>ASubstitution - Missense
DNMT3BENSG00000088305ENST00000328111p.Q328*c.982C>TSubstitution - Nonsense
RIOK3ENSG00000101782ENST00000339486p.?c.1014-5T>CUnknown
SU_SgK223p.S786Nc.2357G>ASubstitution - Missense
ENST00000356150_v68p.A70Ac.210G>ASubstitution - coding silent
DEPDC5ENSG00000100150ENST00000400248p.G627*c.1879G>TSubstitution - Nonsense
HORMAD2ENSG00000176635ENST00000336726p.R100Cc.298C>TSubstitution - Missense
EWSR1ENSG00000182944ENST00000333395p.Q15*c.43C>TSubstitution - Nonsense
ZNF649ENSG00000198093ENST00000354957p.S359Fc.1076C>TSubstitution - Missense
ZNF83ENSG00000167766ENST00000301096p.K128Rc.383A>GSubstitution - Missense
FOXC2ENSG00000176692ENST00000320354p.Y109Yc.327C>TSubstitution - coding silent
FOXC2ENSG00000176692ENST00000320354p.R110Rc.328C>ASubstitution - coding silent
BBXENSG00000114439ENST00000325805p.P919Tc.2755C>ASubstitution - Missense
LRCH3ENSG00000186001ENST00000334859p.Q499Hc.1497G>TSubstitution - Missense
LRCH3ENSG00000186001ENST00000425562p.Q499Hc.1497G>TSubstitution - Missense
HADHENSG00000138796ENST00000309522p.T113Ic.338C>TSubstitution - Missense
DIDO1ENSG00000101191ENST00000370366p.R83Hc.248G>ASubstitution - Missense
IKBKBENSG00000104365ENST00000520810p.H284Yc.850C>TSubstitution - Missense
BCORENSG00000183337ENST00000397354p.S765Yc.2294C>ASubstitution - Missense
OSTCENSG00000198856ENST00000361564p.?c.431+7T>CUnknown
TMEM150CENSG00000249242ENST00000449862p.L142Lc.426G>ASubstitution - coding silent
WDFY3ENSG00000163625ENST00000295888p.T2313fs*8c.6933_6934insTInsertion - Frameshift
ADAM9ENSG00000168615ENST00000487273p.?c.2367-4G>AUnknown
SLC16A11ENSG00000174326ENST00000308009p.Y356Yc.1068C>TSubstitution - coding silent
TARBP2ENSG00000139546ENST00000266987p.C282Yc.845G>ASubstitution - Missense
CALCOCO1ENSG00000012822ENST00000550804p.L141Lc.421C>TSubstitution - coding silent
ENST00000349637p.P4299Sc.12895C>TSubstitution - Missense
ENST00000349637p.S1959Fc.5876C>TSubstitution - Missense
PARVAENSG00000197702ENST00000334956p.E166Kc.496G>ASubstitution - Missense
LIPFENSG00000182333ENST00000238983p.D307Gc.920A>GSubstitution - Missense
SPRYD3ENSG00000167778ENST00000301463p.G405Gc.1215C>TSubstitution - coding silent
ITGA5ENSG00000161638ENST00000293379p.P699Lc.2096C>TSubstitution - Missense
B4GALNT3ENSG00000139044ENST00000266383p.S656Sc.1968C>TSubstitution - coding silent
NACAENSG00000196531ENST00000454682p.A486Tc.1456G>ASubstitution - Missense
ENST00000426424p.?c.493-3C>TUnknown
ARHGEF17ENSG00000110237ENST00000263674p.G1704Gc.5112C>TSubstitution - coding silent
EDRF1ENSG00000107938ENST00000356792p.A1055Vc.3164C>TSubstitution - Missense
ARAP1ENSG00000186635ENST00000393609p.L267Lc.799C>TSubstitution - coding silent
C12orf44ENSG00000123395ENST00000336854p.V156Mc.466G>ASubstitution - Missense
NM_175736.3p.R118Hc.353G>ASubstitution - Missense
TMBIM6ENSG00000139644ENST00000267115p.P21Pc.63G>ASubstitution - coding silent
TMEM151AENSG00000179292ENST00000327259p.?c.76-3C>AUnknown
SPTBN2ENSG00000173898ENST00000309996p.R55fs*86c.160_161insAInsertion - Frameshift
FMN2ENSG00000155816ENST00000319653p.L1113Lc.3339T>ASubstitution - coding silent
SSH3ENSG00000172830ENST00000308127p.A248Dc.743C>ASubstitution - Missense
WNK1ENSG00000060237ENST00000537687p.R341Qc.1022G>ASubstitution - Missense
CPT1AENSG00000110090ENST00000265641p.C608Cc.1824C>TSubstitution - coding silent
IRAK4ENSG00000198001ENST00000448290p.P366Pc.1098C>TSubstitution - coding silent
TXNRD1ENSG00000198431ENST00000525566p.P564Sc.1690C>TSubstitution - Missense
GALNT8ENSG00000130035ENST00000252318p.T208Tc.624G>ASubstitution - coding silent
ACAD8ENSG00000151498ENST00000281182p.M372Rc.1115T>GSubstitution - Missense
SU_BRSK2p.K266Nc.798A>TSubstitution - Missense
VPS26BENSG00000151502ENST00000281187p.K211Kc.633G>ASubstitution - coding silent
ARNTLENSG00000133794ENST00000396441p.?c.180-9_180-8insCUnknown
TP73ENSG00000078900ENST00000378295p.L497fs*30c.1485-1_1485insTUnknown
HDAC1ENSG00000116478ENST00000373548p.D104Nc.310G>ASubstitution - Missense
NCDNENSG00000020129ENST00000373243p.C522Cc.1566C>TSubstitution - coding silent
POGZENSG00000143442ENST00000491586p.Q480Qc.1440G>ASubstitution - coding silent
MAPKBP1ENSG00000137802ENST00000457542p.G491Rc.1471G>ASubstitution - Missense
ENST00000398860p.D2672Nc.8014G>ASubstitution - Missense
FRMD5ENSG00000171877ENST00000417257p.T109Ic.326C>TSubstitution - Missense
LTBP3ENSG00000168056ENST00000322147p.R606Qc.1817G>ASubstitution - Missense
SSSCA1ENSG00000173465ENST00000309328p.A26Tc.76G>ASubstitution - Missense
FERMT3ENSG00000149781ENST00000279227p.R438Wc.1312C>TSubstitution - Missense
FLRT1ENSG00000126500ENST00000246841p.P626Rc.1877C>GSubstitution - Missense
VRTNENSG00000133980ENST00000256362p.S535Nc.1604G>ASubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.?c.8415+4G>TUnknown
DYNLL1ENSG00000088986ENST00000242577p.A25Sc.73G>TSubstitution - Missense
OASLENSG00000135114ENST00000257570p.C181Cc.543C>TSubstitution - coding silent
SLFNL1ENSG00000171790ENST00000359345p.R88Wc.262C>TSubstitution - Missense
YBX1ENSG00000065978ENST00000321358p.P250Lc.749C>TSubstitution - Missense
MAN2A2ENSG00000196547ENST00000360468p.G726Rc.2176G>ASubstitution - Missense
ELMSAN1ENSG00000156030ENST00000286523p.G881Dc.2642G>ASubstitution - Missense
MAN2A2ENSG00000196547ENST00000360468p.V706Lc.2116G>TSubstitution - Missense
ZFYVE26ENSG00000072121ENST00000347230p.A1388Vc.4163C>TSubstitution - Missense
TELO2ENSG00000100726ENST00000262319p.D448Nc.1342G>ASubstitution - Missense
ST8SIA6ENSG00000148488ENST00000377602p.T95Tc.285G>ASubstitution - coding silent
DNAH3ENSG00000158486ENST00000261383p.L3725Lc.11175G>ASubstitution - coding silent
APOA5ENSG00000110243ENST00000227665p.Q62*c.184C>TSubstitution - Nonsense
LAMC2ENSG00000058085ENST00000264144p.C81Yc.242G>ASubstitution - Missense
C12orf57ENSG00000111678ENST00000229281p.D74Dc.222C>TSubstitution - coding silent
NAV2ENSG00000166833ENST00000360655p.L66Lc.198G>ASubstitution - coding silent
PIAS3ENSG00000131788ENST00000393045p.S52Nc.155G>ASubstitution - Missense
CTSEENSG00000196188ENST00000360218p.G98Sc.292G>ASubstitution - Missense
OPTCENSG00000188770ENST00000367222p.R164Cc.490C>TSubstitution - Missense
ATAD3CENSG00000215915ENST00000378785p.R51Sc.153G>CSubstitution - Missense
ADAMTS17ENSG00000140470ENST00000268070p.C676Yc.2027G>ASubstitution - Missense
UBAP2LENSG00000143569ENST00000361546p.?c.1491+1G>AUnknown
ENST00000364810p.A269Vc.806C>TSubstitution - Missense
DDX19AENSG00000168872ENST00000302243p.E365Ec.1095G>ASubstitution - coding silent
MAN2B2ENSG00000013288ENST00000285599p.R395fs*37c.1178delCDeletion - Frameshift
BCRENSG00000186716ENST00000305877p.R44Gc.130C>GSubstitution - Missense
PLEKHG2ENSG00000090924ENST00000409794p.A896Sc.2686G>TSubstitution - Missense
PLEKHG2ENSG00000090924ENST00000458508p.A837Sc.2509G>TSubstitution - Missense
CC2D1AENSG00000132024ENST00000318003p.R749Rc.2247G>ASubstitution - coding silent
CD97ENSG00000123146ENST00000242786p.T713Nc.2138C>ASubstitution - Missense
PSG5ENSG00000204941ENST00000342951p.P191Hc.572C>ASubstitution - Missense
RGS14ENSG00000169220ENST00000408923p.Q228*c.682C>TSubstitution - Nonsense
MSH5ENSG00000204410ENST00000375742p.F758Lc.2274C>ASubstitution - Missense
PFN3ENSG00000196570ENST00000358571p.H126Hc.378C>TSubstitution - coding silent
HLA-DQB2ENSG00000232629ENST00000411527p.Q4*c.10C>TSubstitution - Nonsense
AARS2ENSG00000124608ENST00000244571p.R417Wc.1249C>TSubstitution - Missense
TNXBENSG00000168477ENST00000375247p.S1878Sc.5634C>TSubstitution - coding silent
PSMD2ENSG00000175166ENST00000310118p.L840Lc.2520G>ASubstitution - coding silent
ZER1ENSG00000160445ENST00000291900p.T83Mc.248C>TSubstitution - Missense
WDR34ENSG00000119333ENST00000372715p.V93Lc.277G>TSubstitution - Missense
C6orf25ENSG00000204420ENST00000375806p.H121Qc.363C>ASubstitution - Missense
FGFR4ENSG00000160867ENST00000292410p.A296Ac.888C>TSubstitution - coding silent
DBN1ENSG00000113758ENST00000292385p.V438Mc.1312G>ASubstitution - Missense
MAP3K1ENSG00000095015ENST00000399503p.Q881*c.2641C>TSubstitution - Nonsense
HSPA5ENSG00000044574ENST00000324460p.M196Ic.588G>TSubstitution - Missense
FER1L6ENSG00000214814ENST00000399018p.G1182Rc.3544G>ASubstitution - Missense
CCDC65ENSG00000139537ENST00000266984p.H133Yc.397C>TSubstitution - Missense
RASSF7ENSG00000099849ENST00000397583p.?c.1034+1G>AUnknown
CTNND1ENSG00000198561ENST00000399050p.?c.1894+10G>TUnknown
NUP98ENSG00000110713ENST00000359171p.Q218Qc.654G>ASubstitution - coding silent
HBBENSG00000244734ENST00000335295p.K60Kc.180G>ASubstitution - coding silent
C10orf90ENSG00000154493ENST00000544758p.R188Rc.564C>TSubstitution - coding silent
CAMK2GENSG00000148660ENST00000322635p.L137Lc.409C>TSubstitution - coding silent
RYR2ENSG00000198626ENST00000360064p.L3802Lc.11406G>ASubstitution - coding silent
MAP3K6ENSG00000142733ENST00000493901p.Q941Qc.2823G>ASubstitution - coding silent
PRRT2ENSG00000167371ENST00000567659p.R217fs*7c.641_642delCCDeletion - Frameshift
CEACAM1ENSG00000079385ENST00000358394p.G393Sc.1177G>ASubstitution - Missense
AP3D1ENSG00000065000ENST00000355272p.A1119Tc.3355G>ASubstitution - Missense
BAIAP3ENSG00000007516ENST00000397488p.S149Nc.446G>ASubstitution - Missense
NME9ENSG00000181322ENST00000333911p.G40Dc.119G>ASubstitution - Missense
GPR56ENSG00000205336ENST00000566508p.S42Yc.125C>ASubstitution - Missense
KCNQ2ENSG00000075043ENST00000359689p.R489Cc.1465C>TSubstitution - Missense
CPSF7ENSG00000149532ENST00000340437p.Y360fs*16c.1077delCDeletion - Frameshift
DMTF1ENSG00000135164ENST00000394702p.K236fs*>50c.706delADeletion - Frameshift
AGERENSG00000204305ENST00000438221p.S299fs*4c.894delCDeletion - Frameshift
POMT1ENSG00000130714ENST00000354713p.L664Lc.1990C>TSubstitution - coding silent
ADAM19ENSG00000135074ENST00000430702p.A69Vc.206C>TSubstitution - Missense
ABCF2ENSG00000033050ENST00000222388p.T438Ic.1313C>TSubstitution - Missense
DAPK1ENSG00000196730ENST00000469640p.S635Sc.1905C>TSubstitution - coding silent
SETXENSG00000107290ENST00000372169p.A1574Tc.4720G>ASubstitution - Missense
ZNF142ENSG00000115568ENST00000411696p.G1052fs*20c.3155delGDeletion - Frameshift
ALKENSG00000171094ENST00000389048p.N808Nc.2424C>TSubstitution - coding silent
STK11ENSG00000118046ENST00000326873p.K175Mc.524A>TSubstitution - Missense
NM_182557.1p.Q452fs*11c.1354delCDeletion - Frameshift
NIPA2ENSG00000140157ENST00000359727p.G34fs*11c.101delGDeletion - Frameshift
FOXK1ENSG00000164916ENST00000328914p.V596fs*15c.1778delCDeletion - Frameshift
NBEAL2ENSG00000160796ENST00000450053p.A648Vc.1943C>TSubstitution - Missense
ZC3H3ENSG00000014164ENST00000262577p.E695Ec.2085G>ASubstitution - coding silent
CD86ENSG00000114013ENST00000330540p.V142Ic.424G>ASubstitution - Missense
B3GALTLENSG00000187676ENST00000343307p.S80fs*3c.231delADeletion - Frameshift
NWD1ENSG00000188039ENST00000339803p.L202fs*14c.599delCDeletion - Frameshift
PRR14ENSG00000156858ENST00000300835p.P279fs*2c.830delCDeletion - Frameshift
DPP10ENSG00000175497ENST00000310323p.I431fs*4c.1286delADeletion - Frameshift
ENST00000339267p.R172Hc.515G>ASubstitution - Missense
KLHL1ENSG00000150361ENST00000377844p.A684Sc.2050G>TSubstitution - Missense
PMLENSG00000140464ENST00000268059p.L702fs*>128c.2098delGDeletion - Frameshift
ENST00000403458_v68p.S161Nc.482G>ASubstitution - Missense
SLC4A5ENSG00000188687ENST00000377634p.I947Ic.2841C>TSubstitution - coding silent
HOXA13ENSG00000106031ENST00000222753p.N283Nc.849C>TSubstitution - coding silent
SYNJ2ENSG00000078269ENST00000355585p.?c.1210-3C>TUnknown
STXBP5ENSG00000164506ENST00000367481p.G799fs*9c.2392delGDeletion - Frameshift
DHX36ENSG00000174953ENST00000496811p.Q94Qc.282A>GSubstitution - coding silent
EMDENSG00000102119ENST00000369842p.T67Ic.200C>TSubstitution - Missense
SEMA5BENSG00000082684ENST00000357599p.R876Hc.2627G>ASubstitution - Missense
NM_181334.1p.?c.985+4C>TUnknown
SPRED2ENSG00000198369ENST00000356388p.D143Dc.429C>TSubstitution - coding silent
RASIP1ENSG00000105538ENST00000222145p.S318Sc.954A>TSubstitution - coding silent
RASIP1ENSG00000105538ENST00000222145p.A308Sc.922G>TSubstitution - Missense
DOC2AENSG00000149927ENST00000350119p.A242Ec.725C>ASubstitution - Missense
SETD1AENSG00000099381ENST00000262519p.A631Tc.1891G>ASubstitution - Missense
LATENSG00000213658ENST00000395461p.Q36*c.106C>TSubstitution - Nonsense
BCL7CENSG00000099385ENST00000215115p.R70Cc.208C>TSubstitution - Missense
ZC3H4ENSG00000130749ENST00000253048p.P922Qc.2765C>ASubstitution - Missense
ABTB1ENSG00000114626ENST00000232744p.E259Vc.776A>TSubstitution - Missense
SLC6A11ENSG00000132164ENST00000254488p.V386Vc.1158C>TSubstitution - coding silent
FBLN2ENSG00000163520ENST00000492059p.C502Yc.1505G>ASubstitution - Missense
ZNF48ENSG00000180035ENST00000320159p.C333Yc.998G>ASubstitution - Missense
EHD2ENSG00000024422ENST00000263277p.T31Mc.92C>TSubstitution - Missense
APOEENSG00000130203ENST00000252486p.T85Ic.254C>TSubstitution - Missense
CCDC114ENSG00000105479ENST00000315396p.S645Sc.1935C>TSubstitution - coding silent
ENST00000359737p.A564Vc.1691C>TSubstitution - Missense
SBF1ENSG00000100241ENST00000380817p.S968Tc.2903G>CSubstitution - Missense
MYH9ENSG00000100345ENST00000216181p.R1483Lc.4448G>TSubstitution - Missense
IL2RBENSG00000100385ENST00000216223p.R68Qc.203G>ASubstitution - Missense
MAKENSG00000111837ENST00000313243p.Q584fs*14c.1749delGDeletion - Frameshift
F13A1ENSG00000124491ENST00000264870p.M677Ic.2031G>ASubstitution - Missense
RASGRF2ENSG00000113319ENST00000265080p.T691Ic.2072C>TSubstitution - Missense
HIVEP1ENSG00000095951ENST00000379388p.D2229Dc.6687C>TSubstitution - coding silent
SLC35G5ENSG00000177710ENST00000382435p.T139Tc.417C>TSubstitution - coding silent
TRPS1ENSG00000104447ENST00000395715p.E740Kc.2218G>ASubstitution - Missense
MCHR1ENSG00000128285ENST00000249016p.V215Lc.643G>CSubstitution - Missense
EIF3DENSG00000100353ENST00000216190p.R183Cc.547C>TSubstitution - Missense
CACNG2ENSG00000166862ENST00000300105p.V255fs*24c.762delCDeletion - Frameshift
ST13ENSG00000100380ENST00000216218p.?c.168+2T>AUnknown
AOC3ENSG00000131471ENST00000308423p.V736Vc.2208C>ASubstitution - coding silent
PTRFENSG00000177469ENST00000357037p.E20Qc.58G>CSubstitution - Missense
MKS1ENSG00000011143ENST00000393119p.F449fs*25c.1346delTDeletion - Frameshift
SORBS2ENSG00000154556ENST00000418609p.E941*c.2821G>TSubstitution - Nonsense
GHSRENSG00000121853ENST00000427970p.F12Fc.36C>TSubstitution - coding silent
LCN9ENSG00000148386ENST00000277526p.L147Ic.439C>ASubstitution - Missense
C9orf172ENSG00000232434ENST00000436881p.R696Rc.2088C>TSubstitution - coding silent
SETXENSG00000107290ENST00000224140p.A1574Tc.4720G>ASubstitution - Missense
ABCC3ENSG00000108846ENST00000285238p.N847Tc.2540A>CSubstitution - Missense
OR4D2ENSG00000255713ENST00000545221p.C97Yc.290G>ASubstitution - Missense
C19orf55ENSG00000167595ENST00000535581p.S318fs*380c.951_952insGInsertion - Frameshift
GGNENSG00000179168ENST00000334928p.Q5Qc.15G>ASubstitution - coding silent
CLIP3ENSG00000105270ENST00000360535p.S356Sc.1068C>TSubstitution - coding silent
EZH2ENSG00000106462ENST00000350995p.R16Qc.47G>ASubstitution - Missense
SLC6A8ENSG00000130821ENST00000253122p.V70Vc.210G>ASubstitution - coding silent
NT5EENSG00000135318ENST00000257770p.G453Gc.1359C>TSubstitution - coding silent
RAD51DENSG00000185379ENST00000394589p.G303Gc.909A>CSubstitution - coding silent
TNRC18ENSG00000182095ENST00000430969p.K2315Rc.6944A>GSubstitution - Missense
MCM7ENSG00000166508ENST00000354230p.R356Pc.1067G>CSubstitution - Missense
FUKENSG00000157353ENST00000288078p.?c.582+10C>TUnknown
MATR3ENSG00000015479ENST00000394805p.G153Sc.457G>ASubstitution - Missense
AXLENSG00000167601ENST00000359092p.G248Dc.743G>ASubstitution - Missense
BAG6ENSG00000204463ENST00000404765p.L473fs*61c.1417delCDeletion - Frameshift
PRRC2AENSG00000204469ENST00000376033p.S146Nc.437G>ASubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.V677Mc.2029G>ASubstitution - Missense
LTBENSG00000227507ENST00000429299p.G116Ec.347G>ASubstitution - Missense
NM_018993.2p.D618Nc.1852G>ASubstitution - Missense
SEL1L2ENSG00000101251ENST00000284951p.H383Nc.1147C>ASubstitution - Missense
DNAJC6ENSG00000116675ENST00000395325p.R124Qc.371G>ASubstitution - Missense
GULP1ENSG00000144366ENST00000359135p.R47Kc.140G>ASubstitution - Missense
LYPLA1ENSG00000120992ENST00000316963p.D174Nc.520G>ASubstitution - Missense
PLEKHM1ENSG00000225190ENST00000430334p.L925Lc.2775G>ASubstitution - coding silent
FAM117AENSG00000121104ENST00000240364p.S269Nc.806G>ASubstitution - Missense
TBKBP1ENSG00000198933ENST00000361722p.?c.226-4G>AUnknown
PNPLA6ENSG00000032444ENST00000414982p.L512Lc.1536G>ASubstitution - coding silent
PNPLA6ENSG00000032444ENST00000221249p.L464Lc.1392G>ASubstitution - coding silent
ENST00000215591p.L665Lc.1995C>TSubstitution - coding silent
PXDNLENSG00000147485ENST00000356297p.A220Ac.660A>CSubstitution - coding silent
ITGB4ENSG00000132470ENST00000200181p.S19Sc.57C>TSubstitution - coding silent
FAM199XENSG00000123575ENST00000493442p.G47Dc.140G>ASubstitution - Missense
CDRT1ENSG00000241322ENST00000395906p.V509Ic.1525G>ASubstitution - Missense
MYOCDENSG00000141052ENST00000343344p.K124Tc.371A>CSubstitution - Missense
TRIM47ENSG00000132481ENST00000254816p.A555Tc.1663G>ASubstitution - Missense
SPO11ENSG00000054796ENST00000371263p.A372Dc.1115C>ASubstitution - Missense
USP36ENSG00000055483ENST00000312010p.G818Vc.2453G>TSubstitution - Missense
FRMD4AENSG00000151474ENST00000264546p.A839Ac.2517C>ASubstitution - coding silent
MESTENSG00000106484ENST00000223215p.R139Hc.416G>ASubstitution - Missense
EXOC4ENSG00000131558ENST00000253861p.T618Tc.1854C>ASubstitution - coding silent
PLXNA4ENSG00000221866ENST00000378539p.D504Nc.1510G>ASubstitution - Missense
CCAR2ENSG00000158941ENST00000389279p.D649Nc.1945G>ASubstitution - Missense
CACNA2D3ENSG00000157445ENST00000474759p.S266Sc.798C>TSubstitution - coding silent
RNF213ENSG00000173821ENST00000336301p.L648Lc.1944G>ASubstitution - coding silent
ABCA7ENSG00000064687ENST00000263094p.L645Lc.1935G>ASubstitution - coding silent
RAP1GAP2ENSG00000132359ENST00000254695p.E73Ec.219G>ASubstitution - coding silent
SEBOX,VTNENSG00000109072ENST00000431468p.R152Qc.455G>ASubstitution - Missense
PARM1ENSG00000169116ENST00000307428p.P151Hc.452C>ASubstitution - Missense
RIPK4ENSG00000183421ENST00000332512p.H231Rc.692A>GSubstitution - Missense
EIF2AK3ENSG00000172071ENST00000303236p.E994Ac.2981A>CSubstitution - Missense
CACNA1AENSG00000141837ENST00000360228p.?c.5249+8G>CUnknown
VAMP8ENSG00000118640ENST00000263864p.F99fs*>2c.295delTDeletion - Frameshift
ALYREFENSG00000183684ENST00000331204p.W87Lc.260G>TSubstitution - Missense
URB1ENSG00000142207ENST00000382751p.A197Ac.591C>ASubstitution - coding silent
SHROOM3ENSG00000138771ENST00000296043p.H778Hc.2334C>TSubstitution - coding silent
PCBP4ENSG00000090097ENST00000461554p.S265Nc.794G>ASubstitution - Missense
CAMKVENSG00000164076ENST00000477224p.N69Kc.207C>ASubstitution - Missense
THBS2ENSG00000186340ENST00000366787p.?c.609+5G>AUnknown
NISCHENSG00000010322ENST00000345716p.A983Dc.2948C>ASubstitution - Missense
TLR9ENSG00000239732ENST00000360658p.L692Lc.2076G>TSubstitution - coding silent
TLR9ENSG00000239732ENST00000360658p.R170Cc.508C>TSubstitution - Missense
ENSG00000182319ENST00000330777p.P1237Pc.3711C>TSubstitution - coding silent
PFASENSG00000178921ENST00000314666p.H908Hc.2724C>TSubstitution - coding silent
PRDM7ENSG00000126856ENST00000449207p.A392Ac.1176C>TSubstitution - coding silent
RGS11ENSG00000076344ENST00000397770p.N368fs*24c.1101_1102insAInsertion - Frameshift
MYLK3ENSG00000140795ENST00000394809p.C381Yc.1142G>ASubstitution - Missense
KCNK3ENSG00000171303ENST00000302909p.L264Hc.791T>ASubstitution - Missense
EFR3BENSG00000084710ENST00000403714p.R458Hc.1373G>ASubstitution - Missense
SMC6ENSG00000163029ENST00000448223p.Q734Hc.2202G>CSubstitution - Missense
LAMA5ENSG00000130702ENST00000252999p.Q1407Lc.4220A>TSubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.C1750Yc.5249G>ASubstitution - Missense
COL9A3ENSG00000092758ENST00000343916p.E203fs*330c.603delGDeletion - Frameshift
ENST00000405167p.T2084Tc.6252C>ASubstitution - coding silent
BUB1ENSG00000169679ENST00000302759p.H1042Yc.3124C>TSubstitution - Missense
NLRP5ENSG00000171487ENST00000390649p.T497Mc.1490C>TSubstitution - Missense
CACNA1FENSG00000102001ENST00000376265p.L1943Lc.5829G>TSubstitution - coding silent
ZSCAN4ENSG00000180532ENST00000318203p.Q140Hc.420G>TSubstitution - Missense
CHRNB1ENSG00000170175ENST00000306071p.P92fs*25c.273delCDeletion - Frameshift
KIF19ENSG00000196169ENST00000389916p.R229Hc.686G>ASubstitution - Missense
AMZ2ENSG00000196704ENST00000392720p.M272Ic.816G>ASubstitution - Missense
GPKOWENSG00000068394ENST00000156109p.S438Sc.1314C>TSubstitution - coding silent
RRADENSG00000166592ENST00000420652p.R264Rc.792G>ASubstitution - coding silent
SLC14A2ENSG00000132874ENST00000255226p.G453Cc.1357G>TSubstitution - Missense
TMEM55AENSG00000155099ENST00000285419p.I180fs*21c.538delADeletion - Frameshift
CES1ENSG00000198848ENST00000360526p.T298Mc.893C>TSubstitution - Missense
RANBP3ENSG00000031823ENST00000340578p.A295Tc.883G>ASubstitution - Missense
TBC1D4ENSG00000136111ENST00000377636p.Y1083Fc.3248A>TSubstitution - Missense
HHATENSG00000054392ENST00000367010p.H32Yc.94C>TSubstitution - Missense
ADCK3ENSG00000163050ENST00000366779p.C468Cc.1404C>TSubstitution - coding silent
SYT15ENSG00000204176ENST00000374325p.L59fs*2c.175delCDeletion - Frameshift
ZNF37AENSG00000075407ENST00000361085p.T343Tc.1029T>CSubstitution - coding silent
FUT11ENSG00000196968ENST00000394790p.A420Tc.1258G>ASubstitution - Missense
COMTD1ENSG00000165644ENST00000372538p.D83Gc.248A>GSubstitution - Missense
NCKAP1LENSG00000123338ENST00000293373p.L1068Lc.3204G>ASubstitution - coding silent
SH2D7ENSG00000183476ENST00000328828p.A17Ac.51C>TSubstitution - coding silent
USH2AENSG00000042781ENST00000307340p.R4005Rc.12015A>GSubstitution - coding silent
KRT1ENSG00000167768ENST00000252244p.S491Sc.1473C>TSubstitution - coding silent
ROBO3ENSG00000154134ENST00000397801p.S259Lc.776C>TSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.P2043Tc.6127C>ASubstitution - Missense
DGKZENSG00000149091ENST00000343674p.?c.1647-3C>TUnknown
DLG5ENSG00000151208ENST00000372391p.P186Hc.557C>ASubstitution - Missense
RLBP1ENSG00000140522ENST00000268125p.?c.346+7C>TUnknown
DNAJB13ENSG00000187726ENST00000339764p.R131*c.391C>TSubstitution - Nonsense
C12orf56ENSG00000185306ENST00000333722p.?c.1284-1G>TUnknown
PPFIA2ENSG00000139220ENST00000549396p.S833Lc.2498C>TSubstitution - Missense
SHMT2ENSG00000182199ENST00000328923p.L92Vc.274C>GSubstitution - Missense
SU_OBSCN.1p.A8426fs*12c.25272delGDeletion - Frameshift
KRT74ENSG00000170484ENST00000305620p.?c.471+2T>CUnknown
AKAP13ENSG00000170776ENST00000361243p.?c.6265-3C>TUnknown
PDDC1ENSG00000177225ENST00000319863p.L196Lc.588G>ASubstitution - coding silent
ENST00000368915p.V2485Mc.7453G>ASubstitution - Missense
CUZD1ENSG00000138161ENST00000368904p.V517Vc.1551C>TSubstitution - coding silent
CUZD1ENSG00000138161ENST00000368904p.S510Fc.1529C>TSubstitution - Missense
NM_014824.1p.G376Dc.1127G>ASubstitution - Missense
SLC25A3ENSG00000075415ENST00000228318p.Q98fs*103c.288delCDeletion - Frameshift
C11orf48ENSG00000162194ENST00000354588p.A200Gc.599C>GSubstitution - Missense
RPS6KB2ENSG00000175634ENST00000312629p.G206Gc.618C>TSubstitution - coding silent
CDC42BPBENSG00000198752ENST00000361246p.R326Hc.977G>ASubstitution - Missense
SFR1ENSG00000156384ENST00000336358p.A37Vc.110C>TSubstitution - Missense
CNTN1ENSG00000018236ENST00000551295p.R235*c.703C>TSubstitution - Nonsense
SYCP3ENSG00000139351ENST00000392924p.Q123Hc.369A>TSubstitution - Missense
NM_001002762.1p.V297Mc.889G>ASubstitution - Missense
TET1ENSG00000138336ENST00000373644p.?c.4462-3C>TUnknown
PIK3C2AENSG00000011405ENST00000265970p.L534Mc.1600C>ASubstitution - Missense
ENST00000420314p.L279Lc.835C>TSubstitution - coding silent
SERINC2ENSG00000168528ENST00000373709p.E312fs*36c.930delCDeletion - Frameshift
NCDNENSG00000020129ENST00000373243p.G504_T507delGHDTc.1508_1519del12Deletion - In frame
FRYENSG00000073910ENST00000380250p.S2296Sc.6888C>TSubstitution - coding silent
SYCP1ENSG00000198765ENST00000369518p.K118fs*4c.348delADeletion - Frameshift
PSAPENSG00000197746ENST00000394936p.D119Dc.357C>TSubstitution - coding silent
PTCH2ENSG00000117425ENST00000372192p.R175Wc.523C>TSubstitution - Missense
CCDC64ENSG00000135127ENST00000397558p.Q367*c.1099C>TSubstitution - Nonsense
ENST00000282251_v68p.P563Sc.1687C>TSubstitution - Missense
IRF2BPLENSG00000119669ENST00000238647p.A404Vc.1211C>TSubstitution - Missense
TPSG1ENSG00000116176ENST00000234798p.G200fs*45c.593_594insCInsertion - Frameshift
XM_372608.1p.L316Lc.948G>ASubstitution - coding silent
TMPRSS5ENSG00000166682ENST00000299882p.?c.1360-4C>AUnknown
MTORENSG00000198793ENST00000361445p.I486Ic.1458C>TSubstitution - coding silent
ABCB9ENSG00000150967ENST00000392439p.L361Lc.1083G>ASubstitution - coding silent
CCDC92ENSG00000119242ENST00000238156p.P180Pc.540G>ASubstitution - coding silent
ATP2B4ENSG00000058668ENST00000357681p.V780Mc.2338G>ASubstitution - Missense
NM_006255p.Q61fs*15c.177_178insAInsertion - Frameshift
TMEM260ENSG00000070269ENST00000261556p.R93Hc.278G>ASubstitution - Missense
DR1ENSG00000117505ENST00000370267p.Q122*c.364C>TSubstitution - Nonsense
GNG5ENSG00000174021ENST00000370645p.T50Ic.149C>TSubstitution - Missense
RAI14ENSG00000039560ENST00000265109p.G956Cc.2866G>TSubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.P440fs*131c.1315delCDeletion - Frameshift
MUC21ENSG00000204544ENST00000376296p.A177Ac.531C>TSubstitution - coding silent
KIAA0232ENSG00000170871ENST00000307659p.C593Cc.1779C>TSubstitution - coding silent
CRKLENSG00000099942ENST00000354336p.A225Vc.674C>TSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.R702Wc.2104C>TSubstitution - Missense
PRXENSG00000105227ENST00000324001p.V657Mc.1969G>ASubstitution - Missense
PIWIL3ENSG00000184571ENST00000332271p.H838Hc.2514C>TSubstitution - coding silent
COG7ENSG00000168434ENST00000307149p.Q389*c.1165C>TSubstitution - Nonsense
ENST00000248069p.T191Nc.572C>ASubstitution - Missense
ZSWIM4ENSG00000132003ENST00000254323p.A902Dc.2705C>ASubstitution - Missense
EPC2ENSG00000135999ENST00000258484p.R412Cc.1234C>TSubstitution - Missense
TNFAIP6ENSG00000123610ENST00000243347p.?c.395-1G>AUnknown
KIAA0947ENSG00000164151ENST00000296564p.A1035Vc.3104C>TSubstitution - Missense
SLC34A1ENSG00000131183ENST00000324417p.S191Fc.572C>TSubstitution - Missense
LETM1ENSG00000168924ENST00000302787p.V210Mc.628G>ASubstitution - Missense
FAM129CENSG00000167483ENST00000332386p.Q196*c.586C>TSubstitution - Nonsense
ENST00000251268_v61p.R365Hc.1094G>ASubstitution - Missense
CASKIN1ENSG00000167971ENST00000343516p.D1420Ec.4260C>ASubstitution - Missense
NUP214ENSG00000126883ENST00000359428p.P479Pc.1437C>TSubstitution - coding silent
ATP13A3ENSG00000133657ENST00000256031p.G109Gc.327C>TSubstitution - coding silent
USP20ENSG00000136878ENST00000315480p.S305Sc.915G>ASubstitution - coding silent
ARHGAP27ENSG00000159314ENST00000428638p.G395fs*24c.1182delCDeletion - Frameshift
PHF19ENSG00000119403ENST00000373896p.C198Sc.593G>CSubstitution - Missense
SPTAN1ENSG00000197694ENST00000372739p.N1290Nc.3870C>TSubstitution - coding silent
ANKS1BENSG00000185046ENST00000332712p.G33Rc.97G>ASubstitution - Missense
CLP1ENSG00000172409ENST00000533682p.G194Gc.582C>TSubstitution - coding silent
BRSK2ENSG00000174672ENST00000308230p.K266Ic.797A>TSubstitution - Missense
CAMK2GENSG00000148660ENST00000322635p.?c.414+9C>TUnknown
VWA5B1ENSG00000158816ENST00000375083p.A891Ac.2673C>ASubstitution - coding silent
LGR6ENSG00000133067ENST00000255432p.A669Vc.2006C>TSubstitution - Missense
DNAJC6ENSG00000116675ENST00000371069p.R181Qc.542G>ASubstitution - Missense
SLC45A1ENSG00000162426ENST00000377479p.M252Ic.756G>ASubstitution - Missense
S100A7ENSG00000143556ENST00000368722p.D25Gc.74A>GSubstitution - Missense
ARHGEF2ENSG00000116584ENST00000368315p.I528Ic.1584C>ASubstitution - coding silent
SEPHS2ENSG00000179918ENST00000478753p.A383Vc.1148C>TSubstitution - Missense
PDXDC1ENSG00000179889ENST00000455313p.M390Lc.1168A>TSubstitution - Missense
ZNF280DENSG00000137871ENST00000396245p.V226Ic.676G>ASubstitution - Missense
DEPDC5ENSG00000100150ENST00000400242p.L23Lc.67C>TSubstitution - coding silent
TPX2ENSG00000088325ENST00000340513p.Q67Qc.201G>ASubstitution - coding silent
OGG1ENSG00000114026ENST00000302003p.?c.566-1G>TUnknown
DMTNENSG00000158856ENST00000358242p.P94fs*137c.275delCDeletion - Frameshift
SPAG9ENSG00000008294ENST00000505279p.A823Tc.2467G>ASubstitution - Missense
COASYENSG00000068120ENST00000590958p.Y165Yc.495C>TSubstitution - coding silent
DCCENSG00000187323ENST00000412726p.D150Nc.448G>ASubstitution - Missense
GBA2ENSG00000070610ENST00000545786p.G116Gc.348C>TSubstitution - coding silent
NFX1ENSG00000086102ENST00000318524p.C469Yc.1406G>ASubstitution - Missense
HLA-DQB2ENSG00000232629ENST00000435145p.Q4*c.10C>TSubstitution - Nonsense
TJAP1ENSG00000137221ENST00000372445p.H541Yc.1621C>TSubstitution - Missense
TAF8ENSG00000137413ENST00000456846p.R304Cc.910C>TSubstitution - Missense
MAST4ENSG00000069020ENST00000261569p.C450Cc.1350C>TSubstitution - coding silent
FBXW7ENSG00000109670ENST00000281708p.R505Cc.1513C>TSubstitution - Missense
NCAPG2ENSG00000146918ENST00000409423p.?c.2214+4G>TUnknown
ENST00000257665_v70p.P1004Pc.3012C>TSubstitution - coding silent
TPM2ENSG00000198467ENST00000378300p.L110Lc.330G>ASubstitution - coding silent
SLC32A1ENSG00000101438ENST00000217420p.C437Cc.1311C>TSubstitution - coding silent
SIPA1ENSG00000213445ENST00000394224p.R451Hc.1352G>ASubstitution - Missense
PCSK2ENSG00000125851ENST00000262545p.D320Dc.960C>TSubstitution - coding silent
STRN4ENSG00000090372ENST00000263280p.R442Cc.1324C>TSubstitution - Missense
VPS13AENSG00000197969ENST00000360280p.K372fs*2c.1108delADeletion - Frameshift
CRAMP1LENSG00000007545ENST00000397412p.R218Hc.653G>ASubstitution - Missense
SURF1ENSG00000148290ENST00000371974p.G149Gc.447C>TSubstitution - coding silent
ATP10AENSG00000206190ENST00000356865p.S562Sc.1686G>ASubstitution - coding silent
AADACL2ENSG00000197953ENST00000356517p.A141Vc.422C>TSubstitution - Missense
ITGB2ENSG00000160255ENST00000397852p.R543Cc.1627C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S5313Nc.15938G>ASubstitution - Missense
CENPEENSG00000138778ENST00000265148p.K1826Kc.5478G>ASubstitution - coding silent
NLRP5ENSG00000171487ENST00000390649p.L1171Lc.3513G>ASubstitution - coding silent
GPRC5CENSG00000170412ENST00000392629p.Y329Yc.987C>TSubstitution - coding silent
ACAP1ENSG00000072818ENST00000158762p.R217Qc.650G>ASubstitution - Missense
ZNF551ENSG00000204519ENST00000282296p.C489Cc.1467C>TSubstitution - coding silent
HECAENSG00000112406ENST00000367658p.H336fs*25c.1004_1005insGInsertion - Frameshift
NHSL1ENSG00000135540ENST00000343505p.S302Yc.905C>ASubstitution - Missense
RLTPRENSG00000159753ENST00000334583p.?c.808-3C>TUnknown
KATNB1ENSG00000140854ENST00000379661p.V316Vc.948G>ASubstitution - coding silent
CLDN20ENSG00000171217ENST00000367165p.E208Kc.622G>ASubstitution - Missense
PLEKHG1ENSG00000120278ENST00000358517p.D141Dc.423C>TSubstitution - coding silent
FBXO30ENSG00000118496ENST00000237281p.Q489Qc.1467G>ASubstitution - coding silent
ENST00000330166p.Q2025Qc.6075G>ASubstitution - coding silent
CDH12ENSG00000154162ENST00000382254p.G176Dc.527G>ASubstitution - Missense
ADCY5ENSG00000173175ENST00000462833p.L266Lc.798C>ASubstitution - coding silent
SOX11ENSG00000176887ENST00000322002p.G146Gc.438C>TSubstitution - coding silent
SAMM50ENSG00000100347ENST00000350028p.R381Wc.1141C>TSubstitution - Missense
SCUBE1ENSG00000159307ENST00000360835p.C872Cc.2616C>TSubstitution - coding silent
STEAP3ENSG00000115107ENST00000393106p.C261Cc.783C>TSubstitution - coding silent
SAP130ENSG00000136715ENST00000259235p.K167fs*39c.498delCDeletion - Frameshift
SETD1AENSG00000099381ENST00000262519p.G705Ac.2114G>CSubstitution - Missense
POTEFENSG00000196604ENST00000409914p.V135Ic.403G>ASubstitution - Missense
COX19ENSG00000240230ENST00000344111p.*91fs?c.270_271insAInsertion - Frameshift
ARHGAP25ENSG00000163219ENST00000544262p.S12Lc.35C>TSubstitution - Missense
C3orf52ENSG00000114529ENST00000430855p.D96Nc.286G>ASubstitution - Missense
NKPD1ENSG00000179846ENST00000317951p.R572Cc.1714C>TSubstitution - Missense
POTEIENSG00000196834ENST00000451531p.R145Gc.433A>GSubstitution - Missense
DACT3ENSG00000197380ENST00000391916p.Q577Qc.1731G>ASubstitution - coding silent
ATRXENSG00000085224ENST00000373344p.S316Fc.947C>TSubstitution - Missense
SLC6A20ENSG00000163817ENST00000353278p.G335Cc.1003G>TSubstitution - Missense
ARMC6ENSG00000105676ENST00000269932p.P400Pc.1200G>ASubstitution - coding silent
ZMYM3ENSG00000147130ENST00000314425p.T62Ac.184A>GSubstitution - Missense
MED12ENSG00000184634ENST00000374080p.R295Hc.884G>ASubstitution - Missense
PPAN-P2RY11ENSG00000243207ENST00000393796p.P511Pc.1533C>ASubstitution - coding silent
P2RY11ENSG00000244165ENST00000321826p.P91Pc.273C>ASubstitution - coding silent
SBF1ENSG00000100241ENST00000380817p.C635Yc.1904G>ASubstitution - Missense
MAP1BENSG00000131711ENST00000296755p.V1557Mc.4669G>ASubstitution - Missense
RREB1ENSG00000124782ENST00000379933p.A158Tc.472G>ASubstitution - Missense
GPRC6AENSG00000173612ENST00000310357p.E814Kc.2440G>ASubstitution - Missense
FTMTENSG00000181867ENST00000321339p.G209Sc.625G>ASubstitution - Missense
AFF4ENSG00000072364ENST00000265343p.R177Hc.530G>ASubstitution - Missense
PHACTR1ENSG00000112137ENST00000332995p.V63Vc.189G>ASubstitution - coding silent
FAM83AENSG00000147689ENST00000536633p.V345Ic.1033G>ASubstitution - Missense
HAP1ENSG00000173805ENST00000347901p.Q362Kc.1084C>ASubstitution - Missense
STAT5BENSG00000173757ENST00000293328p.E280Kc.838G>ASubstitution - Missense
TMC1ENSG00000165091ENST00000297784p.T310Ic.929C>TSubstitution - Missense
PRKCEENSG00000171132ENST00000306156p.P737Pc.2211C>TSubstitution - coding silent
PLCD3ENSG00000161714ENST00000322765p.R237Hc.710G>ASubstitution - Missense
GGNENSG00000179168ENST00000334928p.V556Vc.1668G>TSubstitution - coding silent
TBXA2RENSG00000006638ENST00000375190p.L79Lc.235C>TSubstitution - coding silent
CSF1RENSG00000182578ENST00000286301p.?c.49+8C>TUnknown
FAM69BENSG00000165716ENST00000371692p.R128Qc.383G>ASubstitution - Missense
CSNK1A1ENSG00000113712ENST00000515768p.T351Ic.1052C>TSubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.T849Ic.2546C>TSubstitution - Missense
CAMTA2ENSG00000108509ENST00000348066p.C808Yc.2423G>ASubstitution - Missense
ENSG00000262304ENST00000572705p.?c.2231+6G>AUnknown
WDR49ENSG00000174776ENST00000453925p.I212Vc.634A>GSubstitution - Missense
APBB3ENSG00000113108ENST00000354402p.A42Vc.125C>TSubstitution - Missense
FLOT1ENSG00000137312ENST00000376389p.Q255Qc.765G>ASubstitution - coding silent
ENST00000309900p.V57Ac.170T>CSubstitution - Missense
TMED4ENSG00000158604ENST00000457408p.?c.161-4G>AUnknown
PSMC4ENSG00000013275ENST00000157812p.G168Rc.502G>ASubstitution - Missense
ATAT1ENSG00000137343ENST00000330083p.P380Pc.1140G>ASubstitution - coding silent
PARP4ENSG00000102699ENST00000381989p.R958*c.2872C>TSubstitution - Nonsense
SLC25A11ENSG00000108528ENST00000225665p.L89Lc.267G>ASubstitution - coding silent
SYTL1ENSG00000142765ENST00000318074p.P316Pc.948G>ASubstitution - coding silent
RCC1ENSG00000180198ENST00000373831p.S267Sc.801C>TSubstitution - coding silent
ST6GALNAC5ENSG00000117069ENST00000477717p.R309Wc.925C>TSubstitution - Missense
COL24A1ENSG00000171502ENST00000370571p.?c.2976+1G>AUnknown
HCN2ENSG00000099822ENST00000251287p.D661Vc.1982A>TSubstitution - Missense
TDRD15ENSG00000218819ENST00000405799p.H360Nc.1078C>ASubstitution - Missense
NEUROD1ENSG00000162992ENST00000295108p.H206fs*38c.609_610insCInsertion - Frameshift
INO80DENSG00000114933ENST00000403263p.P142Sc.424C>TSubstitution - Missense
CDRT1ENSG00000241322ENST00000395906p.V509Ic.1525G>ASubstitution - Missense
CDRT1ENSG00000241322ENST00000354433p.V9Ic.25G>ASubstitution - Missense
LLGL1ENSG00000131899ENST00000316843p.V66Mc.196G>ASubstitution - Missense
CRB3ENSG00000130545ENST00000598494p.R104Rc.312C>TSubstitution - coding silent
CAMSAP3ENSG00000076826ENST00000446248p.A1213Vc.3638C>TSubstitution - Missense
MISPENSG00000099812ENST00000215582p.L126Mc.376C>ASubstitution - Missense
ETFBENSG00000105379ENST00000354232p.Y2Yc.6C>TSubstitution - coding silent
ENST00000312881p.S348Fc.1043C>TSubstitution - Missense
LENG8ENSG00000167615ENST00000326764p.T611Ac.1831A>GSubstitution - Missense
ENST00000300671p.E402Dc.1206G>TSubstitution - Missense
HSPA12BENSG00000132622ENST00000254963p.R431Rc.1293C>TSubstitution - coding silent
EDEM2ENSG00000088298ENST00000374492p.A396Vc.1187C>TSubstitution - Missense
FAM65CENSG00000042062ENST00000327979p.Y356Yc.1068C>TSubstitution - coding silent
NDUFAF6ENSG00000156170ENST00000396124p.L77Pc.230T>CSubstitution - Missense
NM_015024.2p.R1066Cc.3196C>TSubstitution - Missense
TMEM66ENSG00000133872ENST00000256255p.G335Dc.1004G>ASubstitution - Missense
FLNBENSG00000136068ENST00000490882p.?c.7510+5C>GUnknown
CADPSENSG00000163618ENST00000383710p.?c.970-9C>AUnknown
PHYHIPENSG00000168490ENST00000321613p.R248Hc.743G>ASubstitution - Missense
BCAS3ENSG00000141376ENST00000390652p.C554fs*4c.1656delGDeletion - Frameshift
TRAF4ENSG00000076604ENST00000262395p.C332Yc.995G>ASubstitution - Missense
MED13ENSG00000108510ENST00000397786p.N679fs*7c.2036delADeletion - Frameshift
ARL2BPENSG00000102931ENST00000219204p.L11Lc.31C>TSubstitution - coding silent
ENST00000357018p.M1618Ic.4854G>TSubstitution - Missense
DNASE2ENSG00000105612ENST00000222219p.V260Ic.778G>ASubstitution - Missense
SMCHD1ENSG00000101596ENST00000261598p.R719Kc.2156G>ASubstitution - Missense
HOOK2ENSG00000095066ENST00000397668p.L520Lc.1560G>ASubstitution - coding silent
HOOK2ENSG00000095066ENST00000397668p.?c.45+10G>CUnknown
UTS2RENSG00000181408ENST00000313135p.T113Tc.339C>ASubstitution - coding silent
SONENSG00000159140ENST00000300278p.R1927Hc.5780G>ASubstitution - Missense
IRX5ENSG00000176842ENST00000394636p.?c.250-4G>AUnknown
GNAI2ENSG00000114353ENST00000313601p.G45Rc.133G>ASubstitution - Missense
HIPK2ENSG00000064393ENST00000406875p.D502Nc.1504G>ASubstitution - Missense
KDM7AENSG00000006459ENST00000397560p.?c.1247-3C>TUnknown
STAB1ENSG00000010327ENST00000321725p.P977Sc.2929C>TSubstitution - Missense
SCAF4ENSG00000156304ENST00000286835p.P1135Pc.3405C>TSubstitution - coding silent
SGCEENSG00000127990ENST00000428696p.R24Mc.71G>TSubstitution - Missense
ZSCAN25ENSG00000197037ENST00000394152p.R359Rc.1077G>ASubstitution - coding silent
SP3ENSG00000172845ENST00000310015p.F681Ic.2041T>ASubstitution - Missense
SLC14A2ENSG00000132874ENST00000255226p.A836Tc.2506G>ASubstitution - Missense
ENST00000329373p.L183Lc.549C>TSubstitution - coding silent
FZD7ENSG00000155760ENST00000286201p.W142*c.426G>ASubstitution - Nonsense
AOX1ENSG00000138356ENST00000374700p.R904Cc.2710C>TSubstitution - Missense
OTOFENSG00000115155ENST00000402415p.R515Hc.1544G>ASubstitution - Missense
EFR3BENSG00000084710ENST00000264719p.T535Ic.1604C>TSubstitution - Missense
KIAA1715ENSG00000144320ENST00000272748p.F81fs*5c.243delTDeletion - Frameshift
TTNENSG00000155657ENST00000342992p.A25973Vc.77918C>TSubstitution - Missense
RNF215ENSG00000099999ENST00000382363p.V113Mc.337G>ASubstitution - Missense
AP1B1ENSG00000100280ENST00000357586p.A141Tc.421G>ASubstitution - Missense
LAMA5ENSG00000130702ENST00000252999p.K255*c.763A>TSubstitution - Nonsense
TGFB1I1ENSG00000140682ENST00000394863p.P391Pc.1173G>ASubstitution - coding silent
CORO7ENSG00000262246ENST00000251166p.A881Vc.2642C>TSubstitution - Missense
SNAI3ENSG00000185669ENST00000332281p.V90Vc.270C>TSubstitution - coding silent
USP7ENSG00000187555ENST00000344836p.A827Tc.2479G>ASubstitution - Missense
BMS1ENSG00000165733ENST00000374518p.R126Hc.377G>ASubstitution - Missense
FBXO28ENSG00000143756ENST00000366862p.K214Nc.642G>TSubstitution - Missense
RETENSG00000165731ENST00000340058p.C656Fc.1967G>TSubstitution - Missense
PMLENSG00000140464ENST00000268059p.I459Ic.1377C>TSubstitution - coding silent
ITGA5ENSG00000161638ENST00000293379p.S194*c.581C>ASubstitution - Nonsense
COPZ1ENSG00000111481ENST00000262061p.V153Vc.459C>TSubstitution - coding silent
SLC25A30ENSG00000174032ENST00000519676p.Y201*c.603T>ASubstitution - Nonsense
GTF2F2ENSG00000188342ENST00000340473p.Q30*c.88C>TSubstitution - Nonsense
CR1ENSG00000203710ENST00000400960p.S217Sc.651C>TSubstitution - coding silent
CCSER2ENSG00000107771ENST00000372088p.L836Lc.2508G>ASubstitution - coding silent
CAMK2GENSG00000148660ENST00000322680p.L137Lc.409C>TSubstitution - coding silent
PTPN9ENSG00000169410ENST00000306726p.P469Sc.1405C>TSubstitution - Missense
TMEM194AENSG00000166881ENST00000300128p.R340Hc.1019G>ASubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.Y4959Yc.14877C>TSubstitution - coding silent
MIB2ENSG00000197530ENST00000355826p.H738Qc.2214C>GSubstitution - Missense
HOMER2ENSG00000103942ENST00000304231p.S206Nc.617G>ASubstitution - Missense
PAAF1ENSG00000175575ENST00000310571p.L150Mc.448C>ASubstitution - Missense
GOLGA3ENSG00000090615ENST00000456883p.L754Lc.2260C>TSubstitution - coding silent
SLC4A8ENSG00000050438ENST00000358657p.V399Ic.1195G>ASubstitution - Missense
SCN8AENSG00000196876ENST00000354534p.C146Yc.437G>ASubstitution - Missense
SDR9C7ENSG00000170426ENST00000293502p.S70Sc.210C>ASubstitution - coding silent
ENST00000313194p.A134Ac.402G>ASubstitution - coding silent
P2RX2ENSG00000187848ENST00000343948p.Q439Qc.1317G>ASubstitution - coding silent
RAB6AENSG00000175582ENST00000336083p.?c.289+1G>CUnknown
MCMBPENSG00000197771ENST00000360003p.Q467fs*10c.1398delGDeletion - Frameshift
SPG20ENSG00000133104ENST00000355182p.R388Sc.1164G>TSubstitution - Missense
DCLK1ENSG00000133083ENST00000255448p.T110Tc.330C>TSubstitution - coding silent
DHTKD1ENSG00000181192ENST00000263035p.G12Sc.34G>ASubstitution - Missense
KLHDC9ENSG00000162755ENST00000392192p.A130fs*37c.384delCDeletion - Frameshift
FCER1GENSG00000158869ENST00000289902p.?c.198+5G>TUnknown
DNM3ENSG00000197959ENST00000358155p.K279Nc.837G>TSubstitution - Missense
EBNA1BP2ENSG00000117395ENST00000431635p.G136Vc.407G>TSubstitution - Missense
HEYLENSG00000163909ENST00000372852p.V114Ic.340G>ASubstitution - Missense
KIAA0754ENSG00000255103ENST00000530275p.L162Lc.484C>TSubstitution - coding silent
TBX19ENSG00000143178ENST00000367821p.H281Hc.843C>TSubstitution - coding silent
ENST00000398860p.R1053Hc.3158G>ASubstitution - Missense
ENST00000398860p.A1070Vc.3209C>TSubstitution - Missense
DNAJB12ENSG00000148719ENST00000338820p.V331Mc.991G>ASubstitution - Missense
CATSPER1ENSG00000175294ENST00000312106p.R411Wc.1231C>TSubstitution - Missense
PGBD3ENSG00000243251ENST00000374127p.V171Ac.512T>CSubstitution - Missense
DDX54ENSG00000123064ENST00000306014p.L830Mc.2488C>ASubstitution - Missense
SDF4ENSG00000078808ENST00000360001p.R47fs*8c.141_142delAGDeletion - Frameshift
ATP6V0BENSG00000117410ENST00000472174p.A165Vc.494C>TSubstitution - Missense
NM_004073p.W112Lc.335G>TSubstitution - Missense
MYH11ENSG00000133392ENST00000396324p.I472Ic.1416C>TSubstitution - coding silent
ST8SIA6ENSG00000148488ENST00000440449p.?c.347-2A>TUnknown
DCAF5ENSG00000139990ENST00000341516p.Y519*c.1557C>ASubstitution - Nonsense
ASPMENSG00000066279ENST00000367409p.C1124Yc.3371G>ASubstitution - Missense
MPGENSG00000103152ENST00000219431p.M164Ic.492G>ASubstitution - Missense
CIB1ENSG00000185043ENST00000328649p.C74Yc.221G>ASubstitution - Missense
TMPRSS5ENSG00000166682ENST00000299882p.?c.1360-4C>AUnknown
CACNA1EENSG00000198216ENST00000367573p.P761Sc.2281C>TSubstitution - Missense
DYRK2ENSG00000127334ENST00000344096p.T73Ic.218C>TSubstitution - Missense
AKNAD1ENSG00000162641ENST00000370001p.A764Tc.2290G>ASubstitution - Missense
TSC2ENSG00000103197ENST00000219476p.?c.600-4G>AUnknown
BCL2L10ENSG00000137875ENST00000260442p.A52Ac.156G>TSubstitution - coding silent
SPTY2D1ENSG00000179119ENST00000336349p.N17Sc.50A>GSubstitution - Missense
IQSEC3ENSG00000120645ENST00000538872p.R714Rc.2142C>TSubstitution - coding silent
GCOM1ENSG00000137878ENST00000574161p.?c.319-6C>TUnknown
SPPL2AENSG00000138600ENST00000261854p.A179Vc.536C>TSubstitution - Missense
EFCAB14ENSG00000159658ENST00000371933p.R57Hc.170G>ASubstitution - Missense
ANKDD1AENSG00000166839ENST00000380230p.?c.1066-10T>CUnknown
KCNK10ENSG00000100433ENST00000319231p.P38Lc.113C>TSubstitution - Missense
HES4ENSG00000188290ENST00000304952p.L88Mc.262C>ASubstitution - Missense
NCR3ENSG00000204475ENST00000376073p.?c.389-1G>AUnknown
AGR2ENSG00000106541ENST00000419304p.L44Lc.132C>ASubstitution - coding silent
KCNH7ENSG00000184611ENST00000328032p.F391Lc.1173T>ASubstitution - Missense
CCDC116ENSG00000161180ENST00000292779p.Y451Yc.1353C>TSubstitution - coding silent
GLI3ENSG00000106571ENST00000395925p.?c.474-4C>AUnknown
ELMO1ENSG00000155849ENST00000310758p.A245Vc.734C>TSubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.D982fs*87c.2944delGDeletion - Frameshift
RIF1ENSG00000080345ENST00000444746p.?c.104+8C>TUnknown
GPR110ENSG00000153292ENST00000371253p.L441Lc.1323C>GSubstitution - coding silent
TNXBENSG00000168477ENST00000375244p.S1791Sc.5373C>TSubstitution - coding silent
MEGF8ENSG00000105429ENST00000334370p.R365Hc.1094G>ASubstitution - Missense
NM_203304.1p.F167Fc.501C>TSubstitution - coding silent
ABCC10ENSG00000124574ENST00000244533p.L466Lc.1398G>ASubstitution - coding silent
HYDINENSG00000157423ENST00000538248p.?c.342+7G>AUnknown
EEF2KENSG00000103319ENST00000263026p.R532Cc.1594C>TSubstitution - Missense
FGFR4ENSG00000160867ENST00000292410p.P530Pc.1590C>GSubstitution - coding silent
RAB3CENSG00000152932ENST00000282878p.L47Lc.139C>TSubstitution - coding silent
MSH5ENSG00000204410ENST00000375703p.S833Nc.2498G>ASubstitution - Missense
ENST00000371200p.V166Vc.498A>GSubstitution - coding silent
ENST00000373926p.Q329Hc.987G>CSubstitution - Missense
SH3RF1ENSG00000154447ENST00000284637p.A339Vc.1016C>TSubstitution - Missense
DOLKENSG00000175283ENST00000372586p.A69Ac.207C>TSubstitution - coding silent
BCORL1ENSG00000085185ENST00000303743p.P1755fs*20c.5258delCDeletion - Frameshift
CRB2ENSG00000148204ENST00000373631p.P103Lc.308C>TSubstitution - Missense
ASTN2ENSG00000148219ENST00000361477p.A108Vc.323C>TSubstitution - Missense
CCDC65ENSG00000139537ENST00000266984p.H122Yc.364C>TSubstitution - Missense
C11orf35ENSG00000185522ENST00000329451p.L212Lc.634C>TSubstitution - coding silent
TNKS1BP1ENSG00000149115ENST00000358252p.R1018Rc.3054G>ASubstitution - coding silent
CELF1ENSG00000149187ENST00000395292p.Q463Hc.1389G>TSubstitution - Missense
ZNF646ENSG00000167395ENST00000394979p.H1750Hc.5250C>TSubstitution - coding silent
KAT8ENSG00000103510ENST00000448516p.R325Cc.973C>TSubstitution - Missense
RALGAPA1ENSG00000174373ENST00000258840p.L1390Lc.4168C>TSubstitution - coding silent
MACF1ENSG00000127603ENST00000317713p.?c.6909+4G>TUnknown
CACNA1EENSG00000198216ENST00000367567p.P368Sc.1102C>TSubstitution - Missense
PRMT1ENSG00000126457ENST00000454376p.?c.759+5delgUnknown
IL17REENSG00000163701ENST00000421412p.V437fs*15c.1303delCDeletion - Frameshift
ZNF30ENSG00000168661ENST00000426813p.R168Wc.502C>TSubstitution - Missense
NDUFA13ENSG00000186010ENST00000512771p.?c.245+9G>AUnknown
MERTKENSG00000153208ENST00000295408p.Q530Hc.1590G>TSubstitution - Missense
DEPDC5ENSG00000100150ENST00000400246p.G627*c.1879G>TSubstitution - Nonsense
NUP153ENSG00000124789ENST00000537253p.K843Kc.2529G>ASubstitution - coding silent
SEC31AENSG00000138674ENST00000264405p.R658Qc.1973G>ASubstitution - Missense
DCAF13ENSG00000164934ENST00000297579p.R502Hc.1505G>ASubstitution - Missense
GPIENSG00000105220ENST00000356487p.R273Cc.817C>TSubstitution - Missense
SLC38A7ENSG00000103042ENST00000219320p.S207Sc.621C>TSubstitution - coding silent
TNS3ENSG00000136205ENST00000442536p.?c.325-4G>AUnknown
PCDHGA1ENSG00000204956ENST00000517417p.A761Ac.2283G>ASubstitution - coding silent
TYRENSG00000077498ENST00000263321p.D174Nc.520G>ASubstitution - Missense
FRMD8ENSG00000126391ENST00000317568p.R217Lc.650G>TSubstitution - Missense
KLHL36ENSG00000135686ENST00000564996p.A535Tc.1603G>ASubstitution - Missense
PDGFRBENSG00000113721ENST00000261799p.M772Ic.2316G>ASubstitution - Missense
PTPN11ENSG00000179295ENST00000351677p.K322Kc.966G>ASubstitution - coding silent
MBD6ENSG00000166987ENST00000355673p.S466Nc.1397G>ASubstitution - Missense
RASIP1ENSG00000105538ENST00000222145p.G9Gc.27C>ASubstitution - coding silent
NM_016377.2p.K57fs*21c.163delADeletion - Frameshift
ACIN1ENSG00000100813ENST00000338631p.P393fs*110c.1178delCDeletion - Frameshift
GPATCH2LENSG00000089916ENST00000261530p.R316Qc.947G>ASubstitution - Missense
SYNJ2ENSG00000078269ENST00000355585p.P1114fs*48c.3330_3331insCInsertion - Frameshift
PCLOENSG00000186472ENST00000333891p.A3583Vc.10748C>TSubstitution - Missense
XKR4ENSG00000206579ENST00000327381p.F433Fc.1299C>TSubstitution - coding silent
ACAD10ENSG00000111271ENST00000313698p.K267Kc.801A>GSubstitution - coding silent
KCNC2ENSG00000166006ENST00000549446p.A196Vc.587C>TSubstitution - Missense
SLITRK1ENSG00000178235ENST00000377084p.P561Pc.1683G>ASubstitution - coding silent
DZIP1ENSG00000134874ENST00000347108p.?c.1110+7G>AUnknown
HYAL2ENSG00000068001ENST00000395139p.W19*c.56G>ASubstitution - Nonsense
PTPRHENSG00000080031ENST00000376350p.A218Sc.652G>TSubstitution - Missense
NM_004260.1p.?c.3502+3G>AUnknown
NCOA1ENSG00000084676ENST00000406961p.T1020Tc.3060G>ASubstitution - coding silent
BPIFB2ENSG00000078898ENST00000170150p.K172Mc.515A>TSubstitution - Missense
DNAJA3ENSG00000103423ENST00000262375p.T235Tc.705G>ASubstitution - coding silent
CDT1ENSG00000167513ENST00000301019p.T354Tc.1062G>ASubstitution - coding silent
TATDN2ENSG00000157014ENST00000287652p.S219Nc.656G>ASubstitution - Missense
USP7ENSG00000187555ENST00000344836p.?c.2463+5T>GUnknown
SCRT2ENSG00000215397ENST00000246104p.G241Sc.721G>ASubstitution - Missense
DNAJA3ENSG00000103423ENST00000262375p.T235Tc.705G>ASubstitution - coding silent
WDFY3ENSG00000163625ENST00000295888p.?c.8443-3C>TUnknown
IFT172ENSG00000138002ENST00000260570p.L856fs*16c.2565_2566insAInsertion - Frameshift
OTOP2ENSG00000183034ENST00000331427p.G239Vc.716G>TSubstitution - Missense
AMZ2ENSG00000196704ENST00000359783p.M214Ic.642G>ASubstitution - Missense
DCTN1ENSG00000204843ENST00000361874p.?c.2317-9C>TUnknown
SMPD3ENSG00000103056ENST00000219334p.R605Hc.1814G>ASubstitution - Missense
NKD2ENSG00000145506ENST00000296849p.R322Wc.964C>TSubstitution - Missense
SLC26A1ENSG00000145217ENST00000361661p.A601Vc.1802C>TSubstitution - Missense
RAB37ENSG00000172794ENST00000402449p.P49Pc.147C>TSubstitution - coding silent
HDAC6ENSG00000094631ENST00000334136p.P106Pc.318G>ASubstitution - coding silent
CRIPAKENSG00000179979ENST00000324803p.C172Yc.515G>ASubstitution - Missense
ENST00000272666p.A1432Tc.4294G>ASubstitution - Missense
SP140ENSG00000079263ENST00000373645p.V98Vc.294A>GSubstitution - coding silent
FAM50AENSG00000071859ENST00000393600p.?c.830-4G>AUnknown
ALDH1L1ENSG00000144908ENST00000393434p.A97Ac.291C>TSubstitution - coding silent
SPTBN1ENSG00000115306ENST00000333896p.T18Tc.54G>ASubstitution - coding silent
ESPNLENSG00000144488ENST00000343063p.R201Hc.602G>ASubstitution - Missense
LRRFIP1ENSG00000124831ENST00000244815p.L224Lc.672C>TSubstitution - coding silent
TBC1D10BENSG00000169221ENST00000409939p.?c.1642+4C>AUnknown
SH2B1ENSG00000178188ENST00000322610p.R475fs*68c.1417delCDeletion - Frameshift
SBK1ENSG00000188322ENST00000341901p.R96Wc.286C>TSubstitution - Missense
ZNF688ENSG00000229809ENST00000223459p.R219Cc.655C>TSubstitution - Missense
GRIN1ENSG00000176884ENST00000371561p.L238Lc.714G>ASubstitution - coding silent
TEAD3ENSG00000007866ENST00000338863p.P51Lc.152C>TSubstitution - Missense
BRD1ENSG00000100425ENST00000216267p.R550Hc.1649G>ASubstitution - Missense
NDOR1ENSG00000188566ENST00000344894p.A318Vc.953C>TSubstitution - Missense
TYK2ENSG00000105397ENST00000525621p.Q939Qc.2817G>ASubstitution - coding silent
GRAP2ENSG00000100351ENST00000344138p.?c.79-4G>TUnknown
P2RY11ENSG00000244165ENST00000321826p.G178Dc.533G>ASubstitution - Missense
ADCY2ENSG00000078295ENST00000338316p.D787Nc.2359G>ASubstitution - Missense
NBEAL2ENSG00000160796ENST00000450053p.A109Tc.325G>ASubstitution - Missense
ACSL6ENSG00000164398ENST00000379264p.?c.653-4G>AUnknown
HUS1BENSG00000188996ENST00000380907p.P147Pc.441G>ASubstitution - coding silent
FABP7ENSG00000164434ENST00000368444p.W9Lc.26G>TSubstitution - Missense
BLKENSG00000136573ENST00000259089p.I469Ic.1407C>TSubstitution - coding silent
MKL1ENSG00000196588ENST00000355630p.L510Mc.1528C>ASubstitution - Missense
PMM1ENSG00000100417ENST00000216259p.?c.87+4G>AUnknown
HEXIM1ENSG00000186834ENST00000332499p.S260Sc.780C>TSubstitution - coding silent
FKBP10ENSG00000141756ENST00000321562p.N151Sc.452A>GSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.V1056Mc.3166G>ASubstitution - Missense
TRIOENSG00000038382ENST00000344204p.D2648Dc.7944C>TSubstitution - coding silent
ARHGAP33ENSG00000004777ENST00000314737p.A487Vc.1460C>TSubstitution - Missense
PCDHGA12ENSG00000253159ENST00000252085p.A713Vc.2138C>TSubstitution - Missense
HCFC1ENSG00000172534ENST00000310441p.V145Mc.433G>ASubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.?c.9454-10C>GUnknown
IBTKENSG00000005700ENST00000306270p.F547fs*8c.1641delTDeletion - Frameshift
TRPV1ENSG00000196689ENST00000399756p.?c.2264+6G>AUnknown
MDC1ENSG00000137337ENST00000376406p.T331Ic.992C>TSubstitution - Missense
GRHL2ENSG00000083307ENST00000251808p.T395Ic.1184C>TSubstitution - Missense
TNRC18ENSG00000182095ENST00000430969p.K2315Rc.6944A>GSubstitution - Missense
ACTBENSG00000075624ENST00000331789p.H173fs*13c.517delCDeletion - Frameshift
MAP2K2ENSG00000126934ENST00000262948p.S222Cc.665C>GSubstitution - Missense
BAG6ENSG00000204463ENST00000375976p.A1068Vc.3203C>TSubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.R1886Cc.5656C>TSubstitution - Missense
WDR66ENSG00000158023ENST00000288912p.R860Rc.2580C>TSubstitution - coding silent
DNAH3ENSG00000158486ENST00000261383p.P3961fs*16c.11882delCDeletion - Frameshift
TBL3ENSG00000183751ENST00000568546p.V133Mc.397G>ASubstitution - Missense
TRPM5ENSG00000070985ENST00000155858p.R649Qc.1946G>ASubstitution - Missense
EXPH5ENSG00000110723ENST00000265843p.G1655Gc.4965C>TSubstitution - coding silent
MPGENSG00000103152ENST00000219431p.M149Ic.447G>TSubstitution - Missense
IFFO2ENSG00000169991ENST00000455833p.I198Ic.594C>TSubstitution - coding silent
CEPT1ENSG00000134255ENST00000357172p.L357fs*28c.1067delTDeletion - Frameshift
TPRENSG00000047410ENST00000367478p.T1600Ic.4799C>TSubstitution - Missense
ALDH4A1ENSG00000159423ENST00000375341p.R247Hc.740G>ASubstitution - Missense
IFT140ENSG00000187535ENST00000426508p.A555Tc.1663G>ASubstitution - Missense
KIF14ENSG00000118193ENST00000367350p.L1278Lc.3832C>TSubstitution - coding silent
COLGALT2ENSG00000198756ENST00000361927p.R351Hc.1052G>ASubstitution - Missense
ATP2B4ENSG00000058668ENST00000367218p.?c.2211+4G>AUnknown
DYX1C1ENSG00000256061ENST00000321149p.D282Ec.846T>GSubstitution - Missense
RNF111ENSG00000157450ENST00000348370p.A608Tc.1822G>ASubstitution - Missense
PRCPENSG00000137509ENST00000393399p.I471Ic.1413C>ASubstitution - coding silent
NUAK2ENSG00000163545ENST00000367157p.L94Lc.280C>TSubstitution - coding silent
RALGAPA1ENSG00000174373ENST00000307138p.L1343Lc.4027C>TSubstitution - coding silent
DIS3LENSG00000166938ENST00000319194p.Q681Hc.2043G>TSubstitution - Missense
CMIPENSG00000153815ENST00000537098p.A730Vc.2189C>TSubstitution - Missense
TAF1CENSG00000103168ENST00000378541p.R862Qc.2585G>ASubstitution - Missense
SYTL1ENSG00000142765ENST00000318074p.V466Mc.1396G>ASubstitution - Missense
NT5C1BENSG00000185013ENST00000359846p.G442Cc.1324G>TSubstitution - Missense
CHTF18ENSG00000127586ENST00000262315p.R193Cc.577C>TSubstitution - Missense
HOXB9ENSG00000170689ENST00000311177p.H216Hc.648C>TSubstitution - coding silent
TBX21ENSG00000073861ENST00000177694p.?c.491+5G>TUnknown
CHD7ENSG00000171316ENST00000423902p.M1838Ic.5514G>ASubstitution - Missense
MED25ENSG00000104973ENST00000312865p.V347Vc.1041C>GSubstitution - coding silent
DPY19L3ENSG00000178904ENST00000342179p.K484Ec.1450A>GSubstitution - Missense
AMHENSG00000104899ENST00000221496p.P443Tc.1327C>ASubstitution - Missense
ITGB4ENSG00000132470ENST00000200181p.S1221Nc.3662G>ASubstitution - Missense
NM_032227.1p.G86Gc.258C>TSubstitution - coding silent
FBP2ENSG00000130957ENST00000375337p.?c.334-7G>CUnknown
WDR81ENSG00000167716ENST00000309182p.V641Ic.1921G>ASubstitution - Missense
RBM38ENSG00000132819ENST00000356208p.P231Sc.691C>TSubstitution - Missense
TRPM4ENSG00000130529ENST00000252826p.N913Sc.2738A>GSubstitution - Missense
MANBALENSG00000101363ENST00000397151p.C36Yc.107G>ASubstitution - Missense
DHRS13ENSG00000167536ENST00000378895p.R140Rc.420G>TSubstitution - coding silent
SLC18A1ENSG00000036565ENST00000276373p.S424Sc.1272G>ASubstitution - coding silent
ELP3ENSG00000134014ENST00000256398p.L394Lc.1182C>TSubstitution - coding silent
HGSENSG00000185359ENST00000329138p.V352Vc.1056G>ASubstitution - coding silent
SMARCA4ENSG00000127616ENST00000358026p.A321Tc.961G>ASubstitution - Missense
NM_031968.1p.C228fs*3c.682_683insTInsertion - Frameshift
ABCA7ENSG00000064687ENST00000263094p.C659Cc.1977C>TSubstitution - coding silent
SUPT6HENSG00000109111ENST00000314616p.R120Hc.359G>ASubstitution - Missense
NM_015461.1p.?c.3659-7T>AUnknown
PITPNM3ENSG00000091622ENST00000262483p.D265fs*104c.793delGDeletion - Frameshift
PDP1ENSG00000164951ENST00000297598p.S18Sc.54C>TSubstitution - coding silent
SRGAP3ENSG00000196220ENST00000383836p.P760Pc.2280G>ASubstitution - coding silent
TMPRSS3ENSG00000160183ENST00000291532p.G351Ac.1052G>CSubstitution - Missense
COL6A1ENSG00000142156ENST00000361866p.?c.903+3A>GUnknown
FRG2CENSG00000172969ENST00000308062p.G33Gc.99C>TSubstitution - coding silent
RNASEH2AENSG00000104889ENST00000221486p.N99Kc.297C>ASubstitution - Missense
C21orf2ENSG00000160226ENST00000339818p.?c.97-7C>AUnknown
ENST00000250872p.S811Lc.2432C>TSubstitution - Missense
RBM47ENSG00000163694ENST00000381793p.R383*c.1147C>TSubstitution - Nonsense
P2RX1ENSG00000108405ENST00000225538p.A211Tc.631G>ASubstitution - Missense
SNX20ENSG00000167208ENST00000330943p.C12*c.36C>ASubstitution - Nonsense
SLC12A3ENSG00000070915ENST00000438926p.S467fs*57c.1394_1395delCCDeletion - Frameshift
PSD3ENSG00000156011ENST00000327040p.C666Yc.1997G>ASubstitution - Missense
CPSF1ENSG00000071894ENST00000349769p.L698Lc.2094G>ASubstitution - coding silent
CAMKVENSG00000164076ENST00000477224p.D228Yc.682G>TSubstitution - Missense
NM_182507.1p.S284Sc.852C>TSubstitution - coding silent
ENST00000375206p.Q1628Rc.4883A>GSubstitution - Missense
KBTBD4ENSG00000123444ENST00000526005p.E386fs*27c.1156delGDeletion - Frameshift
GNEENSG00000159921ENST00000396594p.R208Hc.623G>ASubstitution - Missense
KIAA1161ENSG00000164976ENST00000297625p.A460Vc.1379C>TSubstitution - Missense
SPRY4ENSG00000187678ENST00000344120p.R197fs*85c.589delCDeletion - Frameshift
UBE3BENSG00000151148ENST00000434735p.T269Pc.805A>CSubstitution - Missense
FBXW7ENSG00000109670ENST00000296555p.G359Sc.1075G>ASubstitution - Missense
USH2AENSG00000042781ENST00000307340p.C4878Cc.14634T>CSubstitution - coding silent
DNAH14ENSG00000185842ENST00000445597p.S1620Sc.4860T>GSubstitution - coding silent
DNAH14ENSG00000185842ENST00000430092p.S2077Nc.6230G>ASubstitution - Missense
ITGB1ENSG00000150093ENST00000396033p.A601Tc.1801G>ASubstitution - Missense
PTPN14ENSG00000152104ENST00000366956p.Y570fs*29c.1707delCDeletion - Frameshift
BAZ2AENSG00000076108ENST00000551812p.N141Kc.423C>GSubstitution - Missense
MYL6BENSG00000196465ENST00000207437p.V52Vc.156C>TSubstitution - coding silent
KIRRELENSG00000183853ENST00000392272p.P501Lc.1502C>TSubstitution - Missense
MON2ENSG00000061987ENST00000393632p.M1581Ic.4743G>ASubstitution - Missense
CLEC4AENSG00000111729ENST00000229332p.R174*c.520C>TSubstitution - Nonsense
MYBPC3ENSG00000134571ENST00000399249p.T750Mc.2249C>TSubstitution - Missense
SEMA4AENSG00000196189ENST00000368285p.P315Lc.944C>TSubstitution - Missense
LMBR1LENSG00000139636ENST00000267102p.L315Lc.945C>TSubstitution - coding silent
TRIM67ENSG00000119283ENST00000366653p.T531Tc.1593G>ASubstitution - coding silent
C12orf68ENSG00000177875ENST00000316554p.G13Gc.39C>TSubstitution - coding silent
PYHIN1ENSG00000163564ENST00000368140p.A203Tc.607G>ASubstitution - Missense
PPFIA2ENSG00000139220ENST00000549396p.N1160Sc.3479A>GSubstitution - Missense
C12orf56ENSG00000185306ENST00000333722p.E115fs*43c.342delADeletion - Frameshift
NACAENSG00000196531ENST00000454682p.P1267Tc.3799C>ASubstitution - Missense
STRN3ENSG00000196792ENST00000357479p.T448Tc.1344G>ASubstitution - coding silent
KRT71ENSG00000139648ENST00000267119p.Q307Qc.921G>ASubstitution - coding silent
WDR73ENSG00000177082ENST00000434634p.C194Cc.582C>TSubstitution - coding silent
PPP1R32ENSG00000162148ENST00000338608p.H48Hc.144C>TSubstitution - coding silent
DDB1ENSG00000167986ENST00000301764p.A605Gc.1814C>GSubstitution - Missense
CCDC38ENSG00000165972ENST00000344280p.?c.614+3G>AUnknown
DAKENSG00000149476ENST00000394900p.Q358fs*35c.1070delCDeletion - Frameshift
DAKENSG00000149476ENST00000394900p.D556Yc.1666G>TSubstitution - Missense
RIN1ENSG00000174791ENST00000424433p.D127fs*2c.379delGDeletion - Frameshift
GPR152ENSG00000175514ENST00000312457p.V248Ic.742G>ASubstitution - Missense
TGM1ENSG00000092295ENST00000206765p.M536Ic.1608G>ASubstitution - Missense
MYRFENSG00000124920ENST00000265460p.A101Tc.301G>ASubstitution - Missense
TMEM223ENSG00000168569ENST00000307366p.R175Hc.524G>ASubstitution - Missense
TMCC3ENSG00000057704ENST00000261226p.S430Pc.1288T>CSubstitution - Missense
SPATA19ENSG00000166118ENST00000299140p.A101Sc.301G>TSubstitution - Missense
PDS5BENSG00000083642ENST00000315596p.R330Hc.989G>ASubstitution - Missense
GJB3ENSG00000188910ENST00000373366p.V167Vc.501G>TSubstitution - coding silent
IQCCENSG00000160051ENST00000537469p.G132Cc.394G>TSubstitution - Missense
IQCCENSG00000160051ENST00000291358p.G52Cc.154G>TSubstitution - Missense
SH3D21ENSG00000214193ENST00000312808p.Q148*c.442C>TSubstitution - Nonsense
RAPGEF3ENSG00000079337ENST00000449771p.M822Ic.2466G>ASubstitution - Missense
ENST00000398860p.T1896Tc.5688T>CSubstitution - coding silent
CDC42BPGENSG00000171219ENST00000342711p.C1196Sc.3587G>CSubstitution - Missense
PCNXL3ENSG00000197136ENST00000355703p.R468fs*8c.1400_1401insAInsertion - Frameshift
NODALENSG00000156574ENST00000287139p.K317Kc.951G>ASubstitution - coding silent
OTUB1ENSG00000167770ENST00000428192p.R83Hc.248G>ASubstitution - Missense
FERMT3ENSG00000149781ENST00000279227p.G372Gc.1116C>GSubstitution - coding silent
ATG2AENSG00000110046ENST00000377264p.?c.5581-3C>AUnknown
SCTENSG00000070031ENST00000176195p.R119Wc.355C>TSubstitution - Missense
ZBTB17ENSG00000116809ENST00000375743p.R621Cc.1861C>TSubstitution - Missense
SCNN1DENSG00000162572ENST00000379116p.Q687Rc.2060A>GSubstitution - Missense
LINGO4ENSG00000213171ENST00000368820p.H430Yc.1288C>TSubstitution - Missense
SLC35E2ENSG00000215790ENST00000246421p.A134fs*40c.396_397insAInsertion - Frameshift
MUS81ENSG00000172732ENST00000308110p.L195Lc.585C>TSubstitution - coding silent
MAN2A2ENSG00000196547ENST00000360468p.A1143Tc.3427G>ASubstitution - Missense
A1CFENSG00000148584ENST00000374001p.A462Vc.1385C>TSubstitution - Missense
UNC45AENSG00000140553ENST00000418476p.?c.1200-9G>AUnknown
GIPC3ENSG00000179855ENST00000322315p.M88Ic.264G>TSubstitution - Missense
EZH2ENSG00000106462ENST00000320356p.R16Qc.47G>ASubstitution - Missense
NM_005334.1p.V46Mc.136G>ASubstitution - Missense
SLC23A1ENSG00000170482ENST00000353963p.?c.150+8C>TUnknown
ENST00000305759p.D268Gc.803A>GSubstitution - Missense
DDX39BENSG00000198563ENST00000396172p.?c.433-3C>TUnknown
ATP10BENSG00000118322ENST00000327245p.?c.1812+1G>TUnknown
ENST00000316490_v65p.V2426Vc.7278C>TSubstitution - coding silent
SOX7ENSG00000171056ENST00000304501p.S28Sc.84G>ASubstitution - coding silent
ZNF74ENSG00000185252ENST00000400451p.L543Lc.1629C>TSubstitution - coding silent
ANKRD24ENSG00000089847ENST00000318934p.?c.644+9C>AUnknown
ECM2ENSG00000106823ENST00000344604p.L564Fc.1690C>TSubstitution - Missense
CNTNAP2ENSG00000174469ENST00000361727p.?c.1349-3C>AUnknown
SCN3AENSG00000153253ENST00000283254p.V143Vc.429A>TSubstitution - coding silent
EEF2KENSG00000103319ENST00000263026p.R532Cc.1594C>TSubstitution - Missense
ENST00000300965p.G288fs*35c.861delGDeletion - Frameshift
APC2ENSG00000115266ENST00000233607p.Q1221Hc.3663G>TSubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.K380Kc.1140G>ASubstitution - coding silent
RBCK1ENSG00000125826ENST00000353660p.?c.42-4G>AUnknown
MAVSENSG00000088888ENST00000428216p.?c.626-9C>AUnknown
GLYATL3ENSG00000203972ENST00000371197p.R241Qc.722G>ASubstitution - Missense
PSMB8ENSG00000204264ENST00000374881p.D119Nc.355G>ASubstitution - Missense
CCNFENSG00000162063ENST00000397066p.R572Wc.1714C>TSubstitution - Missense
FAM198BENSG00000164125ENST00000393807p.S294Cc.881C>GSubstitution - Missense
NUP188ENSG00000095319ENST00000372577p.V926Ic.2776G>ASubstitution - Missense
TTC16ENSG00000167094ENST00000393748p.R183Wc.547C>TSubstitution - Missense
PHF19ENSG00000119403ENST00000312189p.P164Tc.490C>ASubstitution - Missense
NOP2ENSG00000111641ENST00000322166p.A657Vc.1970C>TSubstitution - Missense
NACAENSG00000196531ENST00000454682p.P1244Tc.3730C>ASubstitution - Missense
OR5F1ENSG00000149133ENST00000278409p.A119Tc.355G>ASubstitution - Missense
OR8I2ENSG00000172154ENST00000302124p.S187Sc.561C>TSubstitution - coding silent
SESN3ENSG00000149212ENST00000416495p.V23Vc.69G>ASubstitution - coding silent
ENST00000317568_v70p.R217Lc.650G>TSubstitution - Missense
MYBPC3ENSG00000134571ENST00000545968p.T750Mc.2249C>TSubstitution - Missense
PLEKHG5ENSG00000171680ENST00000535355p.R697Kc.2090G>ASubstitution - Missense
ARHGEF2ENSG00000116584ENST00000361247p.M548Ic.1644G>ASubstitution - Missense
NBEAENSG00000172915ENST00000400445p.R145*c.433C>TSubstitution - Nonsense
ENST00000376664p.R100Wc.298C>TSubstitution - Missense
KRT80ENSG00000167767ENST00000313234p.S249Sc.747C>TSubstitution - coding silent
MYO16ENSG00000041515ENST00000457511p.G31Gc.93C>TSubstitution - coding silent
LGR6ENSG00000133067ENST00000439764p.A582Vc.1745C>TSubstitution - Missense
UBR4ENSG00000127481ENST00000375267p.K4307Nc.12921G>TSubstitution - Missense
MPRIPENSG00000133030ENST00000395811p.L364fs*19c.1085delCDeletion - Frameshift
ITIH4ENSG00000055955ENST00000346281p.E255Ec.765G>ASubstitution - coding silent
CDHR4ENSG00000187492ENST00000343366p.S170Nc.509G>ASubstitution - Missense
ARHGAP33ENSG00000004777ENST00000378944p.A351Vc.1052C>TSubstitution - Missense
FAM129CENSG00000167483ENST00000300971p.Q196*c.586C>TSubstitution - Nonsense
LILRA2ENSG00000239998ENST00000251377p.S473Nc.1418G>ASubstitution - Missense
HMHA1ENSG00000180448ENST00000536472p.?c.1032+4C>TUnknown
TRPC1ENSG00000144935ENST00000476941p.R344Cc.1030C>TSubstitution - Missense
CEP63ENSG00000182923ENST00000354446p.R398*c.1192C>TSubstitution - Nonsense
ID1ENSG00000125968ENST00000376105p.Q61*c.181C>TSubstitution - Nonsense
SLC12A4ENSG00000124067ENST00000537830p.?c.526+10C>TUnknown
PROM1ENSG00000007062ENST00000543373p.I101Vc.301A>GSubstitution - Missense
MAST4ENSG00000069020ENST00000403666p.C455Cc.1365C>TSubstitution - coding silent
TRIM25ENSG00000121060ENST00000316881p.D303Nc.907G>ASubstitution - Missense
HIPK2ENSG00000064393ENST00000342645p.D502Nc.1504G>ASubstitution - Missense
SEC31AENSG00000138674ENST00000264405p.P139Lc.416C>TSubstitution - Missense
NUP214ENSG00000126883ENST00000451030p.T1385Mc.4154C>TSubstitution - Missense
GRIN1ENSG00000176884ENST00000315048p.L238Lc.714G>ASubstitution - coding silent
NT5C2ENSG00000076685ENST00000343289p.S443Nc.1328G>ASubstitution - Missense
KRTAP10-11ENSG00000243489ENST00000334670p.C273Cc.819C>TSubstitution - coding silent
PRKAG1ENSG00000181929ENST00000548065p.R299Qc.896G>ASubstitution - Missense
RHOHENSG00000168421ENST00000505618p.Y38Yc.114C>TSubstitution - coding silent
MTTPENSG00000138823ENST00000265517p.S305Sc.915G>ASubstitution - coding silent
ENST00000405167p.P3794Hc.11381C>ASubstitution - Missense
DIDO1ENSG00000101191ENST00000395343p.R83Hc.248G>ASubstitution - Missense
STMN3ENSG00000197457ENST00000370053p.V117Lc.349G>CSubstitution - Missense
RTEL1ENSG00000258366ENST00000370018p.P82Pc.246G>ASubstitution - coding silent
TPST2ENSG00000128294ENST00000398110p.R195Rc.585C>ASubstitution - coding silent
ENST00000333679p.P542Ac.1624C>GSubstitution - Missense
KDM6AENSG00000147050ENST00000377967p.S1274Sc.3822C>TSubstitution - coding silent
ACAP1ENSG00000072818ENST00000158762p.Q176*c.526C>TSubstitution - Nonsense
USH1GENSG00000182040ENST00000319642p.V316Ec.947T>ASubstitution - Missense
NLRP8ENSG00000179709ENST00000291971p.P602Pc.1806G>ASubstitution - coding silent
NAT9ENSG00000109065ENST00000357814p.K12Nc.36G>TSubstitution - Missense
SLC16A6ENSG00000108932ENST00000327268p.L269Lc.805C>TSubstitution - coding silent
ZNF630ENSG00000221994ENST00000409324p.W119*c.357G>ASubstitution - Nonsense
CES4AENSG00000172824ENST00000326686p.V349Vc.1047C>TSubstitution - coding silent
M1APENSG00000159374ENST00000290536p.S247Rc.741C>ASubstitution - Missense
CMTM1ENSG00000089505ENST00000379500p.T248Ic.743C>TSubstitution - Missense
FAT4ENSG00000196159ENST00000394329p.D4391Dc.13173T>CSubstitution - coding silent
RAET1LENSG00000155918ENST00000367341p.L19Lc.55C>TSubstitution - coding silent
REG3GENSG00000143954ENST00000393897p.S90Sc.270C>ASubstitution - coding silent
FLNAENSG00000196924ENST00000369850p.S262Sc.786C>TSubstitution - coding silent
GRM3ENSG00000198822ENST00000361669p.Y478Nc.1432T>ASubstitution - Missense
CD36ENSG00000135218ENST00000435819p.V263fs*16c.786_807del22Deletion - Frameshift
C6orf99ENSG00000203711ENST00000367072p.Q107*c.319C>TSubstitution - Nonsense
TULP4ENSG00000130338ENST00000367097p.G918Sc.2752G>ASubstitution - Missense
GNA12ENSG00000146535ENST00000275364p.G64Sc.190G>ASubstitution - Missense
PNLDC1ENSG00000146453ENST00000275275p.S77Fc.230C>TSubstitution - Missense
JARID2ENSG00000008083ENST00000341776p.?c.3450+9G>AUnknown
SH3BP4ENSG00000130147ENST00000344528p.A895Ac.2685G>ASubstitution - coding silent
VIL1ENSG00000127831ENST00000248444p.R689Hc.2066G>ASubstitution - Missense
AUTS2ENSG00000158321ENST00000403018p.R126*c.376C>TSubstitution - Nonsense
ENST00000222857p.?c.433-4G>AUnknown
GRAMD4ENSG00000075240ENST00000361034p.M140Vc.418A>GSubstitution - Missense
NM_053025p.S365Sc.1095A>GSubstitution - coding silent
BCL11AENSG00000119866ENST00000356842p.A366Tc.1096G>ASubstitution - Missense
CELSR1ENSG00000075275ENST00000262738p.R1456Wc.4366C>TSubstitution - Missense
ZNF80ENSG00000174255ENST00000308095p.Q17*c.49C>TSubstitution - Nonsense
STRN4ENSG00000090372ENST00000263280p.K352Nc.1056A>TSubstitution - Missense
ZNF629ENSG00000102870ENST00000262525p.R780Hc.2339G>ASubstitution - Missense
SRCAPENSG00000080603ENST00000262518p.P1879fs*21c.5633_5634insCInsertion - Frameshift
GLTSCR1ENSG00000063169ENST00000396720p.L1227fs*21c.3675delCDeletion - Frameshift
ENST00000347493p.A88Tc.262G>ASubstitution - Missense
IL4RENSG00000077238ENST00000395762p.S55Sc.165C>TSubstitution - coding silent
B3GNT3ENSG00000179913ENST00000318683p.H6Hc.18C>TSubstitution - coding silent
ARRDC2ENSG00000105643ENST00000379656p.L130Lc.390G>ASubstitution - coding silent
RAVER1ENSG00000161847ENST00000293677p.?c.1225-9T>CUnknown
PANX2ENSG00000073150ENST00000159647p.R172Hc.515G>ASubstitution - Missense
CELSR3ENSG00000008300ENST00000164024p.R2925Qc.8774G>ASubstitution - Missense
KLHL18ENSG00000114648ENST00000232766p.Y156Yc.468C>TSubstitution - coding silent
ZNF502ENSG00000196653ENST00000296091p.E327Kc.979G>ASubstitution - Missense
BRD1ENSG00000100425ENST00000216267p.C218*c.654C>ASubstitution - Nonsense
TSPYL1ENSG00000189241ENST00000368608p.N243Dc.727A>GSubstitution - Missense
APOL1ENSG00000100342ENST00000319136p.S341Nc.1022G>ASubstitution - Missense
CYTH4ENSG00000100055ENST00000248901p.P154Rc.461C>GSubstitution - Missense
CACNA1IENSG00000100346ENST00000402142p.?c.4934-3C>TUnknown
SYCP2LENSG00000153157ENST00000283141p.P409Sc.1225C>TSubstitution - Missense
SLC6A18ENSG00000164363ENST00000324642p.M482Ic.1446G>ASubstitution - Missense
CCDC183ENSG00000213213ENST00000338005p.A238Vc.713C>TSubstitution - Missense
SARDHENSG00000123453ENST00000371872p.V663Mc.1987G>ASubstitution - Missense
SARDHENSG00000123453ENST00000371872p.?c.814+5G>AUnknown
NM_033133.3p.L12Lc.36G>ASubstitution - coding silent
ENST00000293443_v68p.R67Wc.199C>TSubstitution - Missense
SURF4ENSG00000148248ENST00000371989p.C61Yc.182G>ASubstitution - Missense
SYNRGENSG00000006114ENST00000346661p.I1213Ic.3639C>TSubstitution - coding silent
ZNF598ENSG00000167962ENST00000431526p.?c.1013+7G>AUnknown
SFSWAPENSG00000061936ENST00000261674p.G376Gc.1128C>TSubstitution - coding silent
ATAD3BENSG00000160072ENST00000308647p.L647fs*>2c.1935delCDeletion - Frameshift
SMG7ENSG00000116698ENST00000507469p.P619Pc.1857G>ASubstitution - coding silent
THBS3ENSG00000169231ENST00000368378p.R250Qc.749G>ASubstitution - Missense
LGR6ENSG00000133067ENST00000367278p.A721Vc.2162C>TSubstitution - Missense
FAM214AENSG00000047346ENST00000261844p.H196Yc.586C>TSubstitution - Missense
DYX1C1ENSG00000256061ENST00000321149p.C27Cc.81C>TSubstitution - coding silent
PKLRENSG00000143627ENST00000342741p.A456Tc.1366G>ASubstitution - Missense
FAM189BENSG00000160767ENST00000361361p.Q298Qc.894G>ASubstitution - coding silent
WDR70ENSG00000082068ENST00000265107p.T101Tc.303G>ASubstitution - coding silent
MAN1C1ENSG00000117643ENST00000374332p.V568Vc.1704G>ASubstitution - coding silent
ENST00000329206p.P179Lc.536C>TSubstitution - Missense
LDHDENSG00000166816ENST00000300051p.H459Hc.1377C>TSubstitution - coding silent
MSLNENSG00000102854ENST00000382862p.R469Rc.1407G>ASubstitution - coding silent
ARID1AENSG00000117713ENST00000324856p.S1151Nc.3452G>ASubstitution - Missense
THEMIS2ENSG00000130775ENST00000373921p.R145Rc.435C>TSubstitution - coding silent
PER3ENSG00000049246ENST00000361923p.G20Gc.60C>TSubstitution - coding silent
ZNF804AENSG00000170396ENST00000302277p.I46Kc.137T>ASubstitution - Missense
CHRNEENSG00000108556ENST00000293780p.G397Rc.1189G>ASubstitution - Missense
PELP1ENSG00000141456ENST00000301396p.?c.1707-8T>CUnknown
KPNB1ENSG00000108424ENST00000290158p.V137Ic.409G>ASubstitution - Missense
SPNS3ENSG00000182557ENST00000355530p.G266Vc.797G>TSubstitution - Missense
DENND1CENSG00000205744ENST00000381480p.H401Hc.1203C>TSubstitution - coding silent
MAP2K7ENSG00000076984ENST00000397979p.R12fs*80c.31_32insCInsertion - Frameshift
ENST00000312881p.V347Vc.1041C>GSubstitution - coding silent
DNAH2ENSG00000183914ENST00000389173p.R2803Hc.8408G>ASubstitution - Missense
ENST00000300671p.Q3767Rc.11300A>GSubstitution - Missense
SRSF2ENSG00000161547ENST00000359995p.S149Fc.446C>TSubstitution - Missense
YWHAEENSG00000108953ENST00000264335p.C192Yc.575G>ASubstitution - Missense
WDR81ENSG00000167716ENST00000409644p.A1345Ac.4035G>TSubstitution - coding silent
HSPA12BENSG00000132622ENST00000254963p.A644Ac.1932C>ASubstitution - coding silent
ARHGEF3ENSG00000163947ENST00000338458p.L418Lc.1252C>TSubstitution - coding silent
GBA2ENSG00000070610ENST00000378103p.G116Gc.348C>TSubstitution - coding silent
UBAP2ENSG00000137073ENST00000379238p.P1084Pc.3252G>ASubstitution - coding silent
ABCA7ENSG00000064687ENST00000263094p.P887Hc.2660C>ASubstitution - Missense
PDE4AENSG00000065989ENST00000352831p.L405Vc.1213C>GSubstitution - Missense
ELP2ENSG00000134759ENST00000358232p.T547Tc.1641T>ASubstitution - coding silent
ASXL3ENSG00000141431ENST00000269197p.E1581Dc.4743G>TSubstitution - Missense
BPTFENSG00000171634ENST00000335221p.L813Lc.2439G>ASubstitution - coding silent
PITPNM3ENSG00000091622ENST00000262483p.S928Lc.2783C>TSubstitution - Missense
AFAP1ENSG00000196526ENST00000360265p.?c.1055-4G>AUnknown
ROBO1ENSG00000169855ENST00000464233p.G1238Gc.3714C>TSubstitution - coding silent
SALL1ENSG00000103449ENST00000251020p.G650Gc.1950C>TSubstitution - coding silent
COL6A1ENSG00000142156ENST00000361866p.?c.1675-9C>TUnknown
POC1AENSG00000164087ENST00000296484p.G206Sc.616G>ASubstitution - Missense
SCAF4ENSG00000156304ENST00000286835p.F738Vc.2212T>GSubstitution - Missense
RAPGEFL1ENSG00000108352ENST00000264644p.R105Gc.313C>GSubstitution - Missense
TOP2AENSG00000131747ENST00000423485p.R675*c.2023C>TSubstitution - Nonsense
GSDMBENSG00000073605ENST00000394175p.T169Ic.506C>TSubstitution - Missense
ZNF394ENSG00000160908ENST00000337673p.Y414Hc.1240T>CSubstitution - Missense
GET4ENSG00000239857ENST00000265857p.S137Sc.411C>TSubstitution - coding silent
VPS28ENSG00000160948ENST00000292510p.G10Gc.30C>TSubstitution - coding silent
ADCK5ENSG00000173137ENST00000308860p.K345Nc.1035G>TSubstitution - Missense
ZC3H3ENSG00000014164ENST00000262577p.S552Sc.1656C>TSubstitution - coding silent
BCL2L1ENSG00000171552ENST00000376062p.F210Fc.630C>TSubstitution - coding silent
SMC6ENSG00000163029ENST00000448223p.?c.2142+7A>TUnknown
GSC2ENSG00000063515ENST00000086933p.A187Tc.559G>ASubstitution - Missense
MORC2ENSG00000133422ENST00000215862p.P669Pc.2007G>ASubstitution - coding silent
ZNF83ENSG00000167766ENST00000301096p.K122*c.364A>TSubstitution - Nonsense
CPNE7ENSG00000178773ENST00000268720p.A361Vc.1082C>TSubstitution - Missense
CASP8ENSG00000064012ENST00000358485p.A7Vc.20C>TSubstitution - Missense
IFT172ENSG00000138002ENST00000260570p.L856fs*16c.2562_2563insAInsertion - Frameshift
ENST00000265148.1p.K1826Kc.5478G>ASubstitution - coding silent
NBL1ENSG00000158747ENST00000375136p.S47Sc.141C>TSubstitution - coding silent
NBEAL2ENSG00000160796ENST00000292309p.A209Vc.626C>TSubstitution - Missense
NIPA1ENSG00000170113ENST00000337435p.S284Sc.852C>TSubstitution - coding silent
CNGB3ENSG00000170289ENST00000320005p.P668Pc.2004G>ASubstitution - coding silent
ENST00000356127p.R3756Hc.11267G>ASubstitution - Missense
COL9A3ENSG00000092758ENST00000343916p.R351Qc.1052G>ASubstitution - Missense
ZKSCAN5ENSG00000196652ENST00000394170p.P15fs*13c.39delCDeletion - Frameshift
CDHR5ENSG00000099834ENST00000358353p.G616fs*159c.1845delCDeletion - Frameshift
RASIP1ENSG00000105538ENST00000222145p.G9Gc.27C>ASubstitution - coding silent
SYT4ENSG00000132872ENST00000255224p.?c.1delAUnknown
ABCA10ENSG00000154263ENST00000269081p.K31fs*18c.93delADeletion - Frameshift
OAS2ENSG00000111335ENST00000342315p.Y231Cc.692A>GSubstitution - Missense
ERBB3ENSG00000065361ENST00000267101p.E928fs*16c.2778delGDeletion - Frameshift
ZNF292ENSG00000188994ENST00000339907p.N2393fs*21c.7172delADeletion - Frameshift
HSPG2ENSG00000142798ENST00000374695p.?c.1078+1G>AUnknown
RRP12ENSG00000052749ENST00000370992p.R679Cc.2035C>TSubstitution - Missense
SP1ENSG00000185591ENST00000327443p.N764Nc.2292C>TSubstitution - coding silent
RDH5ENSG00000135437ENST00000257895p.A240fs*7c.712delGDeletion - Frameshift
ENST00000338010_v68p.E251fs*26c.751delGDeletion - Frameshift
RPS26ENSG00000197728ENST00000356464p.K34Kc.102G>ASubstitution - coding silent
C1QTNF4ENSG00000172247ENST00000302514p.G236Gc.708C>TSubstitution - coding silent
TIRAPENSG00000150455ENST00000392679p.D203Nc.607G>ASubstitution - Missense
SEC24CENSG00000176986ENST00000345254p.A68fs*159c.198delGDeletion - Frameshift
ENST00000279593p.L813Lc.2437C>TSubstitution - coding silent
INHBEENSG00000139269ENST00000266646p.V344Lc.1030G>TSubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.?c.6338+7G>AUnknown
NM_172217.1p.A604Vc.1811C>TSubstitution - Missense
KRT83ENSG00000170523ENST00000293670p.V55Mc.163G>ASubstitution - Missense
KRT80ENSG00000167767ENST00000394815p.S249Sc.747C>TSubstitution - coding silent
CACNA2D4ENSG00000151062ENST00000382722p.R352*c.1054C>TSubstitution - Nonsense
DDX23ENSG00000174243ENST00000308025p.A13Sc.37G>TSubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.L824Lc.2470C>TSubstitution - coding silent
TM9SF1ENSG00000100926ENST00000261789p.I95Ic.285C>TSubstitution - coding silent
OPTNENSG00000123240ENST00000263036p.?c.1613-4C>TUnknown
AHNAK2ENSG00000185567ENST00000333244p.P3031Pc.9093C>TSubstitution - coding silent
GTPBP4ENSG00000107937ENST00000360803p.Q304Rc.911A>GSubstitution - Missense
COL2A1ENSG00000139219ENST00000380518p.R719Hc.2156G>ASubstitution - Missense
HPS6ENSG00000166189ENST00000299238p.G382Sc.1144G>ASubstitution - Missense
TACC2ENSG00000138162ENST00000453444p.P1186Hc.3557C>ASubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.P560Sc.1678C>TSubstitution - Missense
DAGLAENSG00000134780ENST00000257215p.Q1011Hc.3033G>TSubstitution - Missense
CPT1AENSG00000110090ENST00000376618p.T609Sc.1825A>TSubstitution - Missense
TP73ENSG00000078900ENST00000378288p.L448fs*30c.1338-1_1338insTUnknown
ZAR1LENSG00000189167ENST00000345108p.G205Rc.613G>ASubstitution - Missense
SH3D21ENSG00000214193ENST00000453908p.A79Ac.237C>TSubstitution - coding silent
SART1ENSG00000175467ENST00000312397p.R373Rc.1119G>ASubstitution - coding silent
ENST00000309024p.R349fs*8c.1043_1044insAInsertion - Frameshift
PIK3C2AENSG00000011405ENST00000265970p.?c.1448+9A>TUnknown
ENST00000220188p.S42Sc.126G>ASubstitution - coding silent
ENST00000321016_v61p.V493Lc.1477G>TSubstitution - Missense
CD101ENSG00000134256ENST00000369470p.V94Ic.280G>ASubstitution - Missense
TNFRSF8ENSG00000120949ENST00000263932p.L468Lc.1402C>TSubstitution - coding silent
TAS1R3ENSG00000169962ENST00000339381p.A770Sc.2308G>TSubstitution - Missense
ENSAENSG00000143420ENST00000503345p.L28Lc.82C>TSubstitution - coding silent
TMOD4ENSG00000163157ENST00000295314p.A133Vc.398C>TSubstitution - Missense
DNA2ENSG00000138346ENST00000399180p.D961Dc.2883C>TSubstitution - coding silent
CLEC16AENSG00000038532ENST00000409790p.?c.1770+7C>TUnknown
ARHGAP22ENSG00000128805ENST00000249601p.E177Dc.531G>TSubstitution - Missense
HNF1AENSG00000135100ENST00000543427p.G175fs*25c.521_522insCInsertion - Frameshift
CCDC64ENSG00000135127ENST00000257583p.G118Sc.352G>ASubstitution - Missense
ENST00000450700p.Y279Yc.837C>TSubstitution - coding silent
ALKBH8ENSG00000137760ENST00000428149p.?c.772-10T>GUnknown
UBR4ENSG00000127481ENST00000375254p.G2796Sc.8386G>ASubstitution - Missense
UBR4ENSG00000127481ENST00000375254p.K4307Nc.12921G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.S1864Ic.5591G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.T2826Kc.8477C>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.T2858Kc.8573C>ASubstitution - Missense
PDE10AENSG00000112541ENST00000539869p.P154Sc.460C>TSubstitution - Missense
TIAM2ENSG00000146426ENST00000456144p.A908Tc.2722G>ASubstitution - Missense
EHMT2ENSG00000204371ENST00000395728p.G886Gc.2658C>TSubstitution - coding silent
DDX39BENSG00000198563ENST00000417556p.?c.478-3C>TUnknown
DDX39BENSG00000198563ENST00000428450p.?c.517-3C>TUnknown
NCR3ENSG00000204475ENST00000376072p.?c.389-1G>AUnknown
AIF1ENSG00000204472ENST00000337917p.?c.197-1G>TUnknown
AIF1ENSG00000204472ENST00000337917p.A142Vc.425C>TSubstitution - Missense
LY6G6EENSG00000255552ENST00000383418p.G57Dc.170G>ASubstitution - Missense
LY6G6EENSG00000255552ENST00000399142p.G57Dc.170G>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000449981p.R3224Ic.9671G>TSubstitution - Missense
SCUBE3ENSG00000146197ENST00000394681p.K881Kc.2643G>ASubstitution - coding silent
ABCC10ENSG00000124574ENST00000372530p.G1121Vc.3362G>TSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.V442Fc.1324G>TSubstitution - Missense
EPHA7ENSG00000135333ENST00000369303p.V235Lc.703G>CSubstitution - Missense
FILIP1ENSG00000118407ENST00000393004p.L362Sc.1085T>CSubstitution - Missense
MYO6ENSG00000196586ENST00000369981p.D1031Yc.3091G>TSubstitution - Missense
KMT2EENSG00000005483ENST00000476671p.N289Tc.866A>CSubstitution - Missense
CADPS2ENSG00000081803ENST00000313070p.R125Wc.373C>TSubstitution - Missense
GNAT3ENSG00000214415ENST00000398291p.?c.161+5G>AUnknown
GNAT3ENSG00000214415ENST00000398291p.?c.161+5G>AUnknown
CACNA2D1ENSG00000153956ENST00000356253p.D665Yc.1993G>TSubstitution - Missense
ACTBENSG00000075624ENST00000417101p.D27Dc.81C>TSubstitution - coding silent
PILRBENSG00000121716ENST00000448382p.P184Pc.552G>ASubstitution - coding silent
PCLOENSG00000186472ENST00000423517p.S134Ic.401G>TSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.A3583Vc.10748C>TSubstitution - Missense
PLECENSG00000178209ENST00000354589p.C3356Cc.10068C>TSubstitution - coding silent
EPPK1ENSG00000227184ENST00000525985p.R504Pc.1511G>CSubstitution - Missense
SLC45A4ENSG00000022567ENST00000517878p.L356Pc.1067T>CSubstitution - Missense
OXR1ENSG00000164830ENST00000517566p.Y739Cc.2216A>GSubstitution - Missense
XPO7ENSG00000130227ENST00000434536p.?c.2069-3C>TUnknown
TRPA1ENSG00000104321ENST00000262209p.G548Rc.1642G>ASubstitution - Missense
BRINP1ENSG00000078725ENST00000373964p.A168Tc.502G>ASubstitution - Missense
PTBP3ENSG00000119314ENST00000458258p.G89Gc.267C>TSubstitution - coding silent
FKTNENSG00000106692ENST00000457847p.?c.134+3C>GUnknown
NUP214ENSG00000126883ENST00000451030p.Q1690*c.5068C>TSubstitution - Nonsense
NUP214ENSG00000126883ENST00000451030p.P479Pc.1437C>TSubstitution - coding silent
WDR34ENSG00000119333ENST00000451652p.V84Lc.250G>TSubstitution - Missense
WDR34ENSG00000119333ENST00000451652p.T58Tc.174G>ASubstitution - coding silent
SH2D3CENSG00000095370ENST00000373276p.A111Vc.332C>TSubstitution - Missense
MVB12BENSG00000196814ENST00000436593p.G50Gc.150C>GSubstitution - coding silent
SARDHENSG00000123453ENST00000371867p.?c.547+5G>AUnknown
SURF6ENSG00000148296ENST00000372022p.A128Ac.384C>ASubstitution - coding silent
SLC2A6ENSG00000160326ENST00000414172p.V145Ic.433G>ASubstitution - Missense
FAM78AENSG00000126882ENST00000464831p.C31Yc.92G>ASubstitution - Missense
POMT1ENSG00000130714ENST00000354713p.H353Hc.1059C>TSubstitution - coding silent
POMT1ENSG00000130714ENST00000354713p.R583Rc.1749C>TSubstitution - coding silent
GRIN1ENSG00000176884ENST00000315048p.F408Fc.1224C>TSubstitution - coding silent
GRIN1ENSG00000176884ENST00000315048p.N427Nc.1281C>TSubstitution - coding silent
RABL6ENSG00000196642ENST00000371671p.A37Sc.109G>TSubstitution - Missense
ENST00000307015p.R66Cc.196C>TSubstitution - Missense
TPM2ENSG00000198467ENST00000378300p.D212Dc.636C>TSubstitution - coding silent
ENST00000329762p.R37Wc.109C>TSubstitution - Missense
ENST00000375325_v70p.D38Nc.112G>ASubstitution - Missense
CDC14BENSG00000081377ENST00000375236p.A306Tc.916G>ASubstitution - Missense
CDC14BENSG00000081377ENST00000265659p.A306Tc.916G>ASubstitution - Missense
HDAC6ENSG00000094631ENST00000444343p.P120Pc.360G>ASubstitution - coding silent
HDAC6ENSG00000094631ENST00000413163p.R188Hc.563G>ASubstitution - Missense
DCCENSG00000187323ENST00000442544p.D302Nc.904G>ASubstitution - Missense
PCDH11XENSG00000102290ENST00000298274p.A1133Sc.3397G>TSubstitution - Missense
SPDYE3ENSG00000214300ENST00000332397p.S418Sc.1254A>GSubstitution - coding silent
PLCH1ENSG00000114805ENST00000494598p.R50Rc.150C>TSubstitution - coding silent
MED12LENSG00000144893ENST00000309237p.A616Tc.1846G>ASubstitution - Missense
CLASP2ENSG00000163539ENST00000480013p.V591Vc.1773C>TSubstitution - coding silent
CLASP2ENSG00000163539ENST00000480013p.E89Kc.265G>ASubstitution - Missense
ARPP21ENSG00000172995ENST00000458225p.S304Pc.910T>CSubstitution - Missense
C3orf35ENSG00000198590ENST00000452017p.E18Ec.54A>GSubstitution - coding silent
NT5DC2ENSG00000168268ENST00000422318p.?c.1348-1G>TUnknown
NT5DC2ENSG00000168268ENST00000422318p.Q186Qc.558G>ASubstitution - coding silent
GNAI2ENSG00000114353ENST00000266027p.G29Rc.85G>ASubstitution - Missense
GRM7ENSG00000196277ENST00000403881p.I847Ic.2541C>TSubstitution - coding silent
SRGAP3ENSG00000196220ENST00000360413p.G1051Gc.3153C>TSubstitution - coding silent
SRGAP3ENSG00000196220ENST00000360413p.P736Pc.2208G>ASubstitution - coding silent
WWC2ENSG00000151718ENST00000448232p.Q1190Qc.3570G>ASubstitution - coding silent
WWC2ENSG00000151718ENST00000508747p.Q294Qc.882G>ASubstitution - coding silent
C1orf85ENSG00000198715ENST00000368264p.R142fs*11c.424delCDeletion - Frameshift
SPTBN2ENSG00000173898ENST00000529997p.R55fs*86c.160_161insAInsertion - Frameshift
OR5AK2ENSG00000181273ENST00000326855p.K307fs*>3c.916delADeletion - Frameshift
CYP26A1ENSG00000095596ENST00000224356p.L318fs*13c.948delGDeletion - Frameshift
ARHGAP20ENSG00000137727ENST00000533353p.P1049fs*21c.3146delCDeletion - Frameshift
NPAS3ENSG00000151322ENST00000341321p.L172fs*11c.511delTDeletion - Frameshift
FUBP1ENSG00000162613ENST00000436586p.S11fs*43c.30delCDeletion - Frameshift
FUBP1ENSG00000162613ENST00000370767p.S11fs*43c.30delCDeletion - Frameshift
BCAR3ENSG00000137936ENST00000370247p.L441fs*6c.1321delCDeletion - Frameshift
ENSG00000268950ENST00000596131p.A105fs*>36c.313delGDeletion - Frameshift
LCKENSG00000182866ENST00000333070p.P232_W233insQKPc.676_677insCCCAGAAGCInsertion - In frame
TAL1ENSG00000162367ENST00000371883p.G58fs*119c.171_172delCGDeletion - Frameshift
EXO1ENSG00000174371ENST00000366548p.?c.2212-2_2212-1insTUnknown
ENST00000590278p.T90fs*119c.262delGDeletion - Frameshift
CIDEAENSG00000176194ENST00000320477p.G105fs*42c.312_313insAInsertion - Frameshift
KANK2ENSG00000197256ENST00000432929p.A585fs*14c.1753delGDeletion - Frameshift
SREBF1ENSG00000072310ENST00000338854p.Q211fs*122c.626_627insCInsertion - Frameshift
MAST4ENSG00000069020ENST00000261569p.P1539fs*18c.4612delCDeletion - Frameshift
CCR3ENSG00000183625ENST00000545097p.K255fs*52c.757delADeletion - Frameshift
DHX36ENSG00000174953ENST00000544526p.M154fs*27c.460delADeletion - Frameshift
KIAA1715ENSG00000144320ENST00000544803p.F81fs*5c.243delTDeletion - Frameshift
ENST00000378024_v70p.A5761Tc.17281G>ASubstitution - Missense
TENM1ENSG00000009694ENST00000422452p.M1870fs*25c.5608delADeletion - Frameshift
BNC2ENSG00000173068ENST00000418777p.P563fs*7c.1688delCDeletion - Frameshift
RGL2ENSG00000237441ENST00000444031p.A226fs*11c.676delGDeletion - Frameshift
ENST00000378024_v70p.Q503Rc.1508A>GSubstitution - Missense
ENST00000378024_v70p.P3383Qc.10148C>ASubstitution - Missense
ENST00000378024_v70p.Q2630*c.7888C>TSubstitution - Nonsense
TRPV3ENSG00000167723ENST00000301365p.A248Ac.744C>ASubstitution - coding silent
CTU2ENSG00000174177ENST00000567949p.K444Nc.1332G>TSubstitution - Missense
CTU2ENSG00000174177ENST00000567949p.R498Rc.1492C>ASubstitution - coding silent
PIEZO1ENSG00000103335ENST00000327397p.R158Wc.472C>TSubstitution - Missense
RIBC2ENSG00000128408ENST00000538017p.Q290Qc.870G>ASubstitution - coding silent
DGKQENSG00000145214ENST00000273814p.A580Vc.1739C>TSubstitution - Missense
PCDHAC1ENSG00000248383ENST00000409700p.H336Yc.1006C>TSubstitution - Missense
SPATA24ENSG00000170469ENST00000451821p.L95Lc.285G>ASubstitution - coding silent
GRAMD3ENSG00000155324ENST00000542322p.L383Lc.1147C>TSubstitution - coding silent
GALNT10ENSG00000164574ENST00000377657p.L119Lc.357G>ASubstitution - coding silent
ZNF300ENSG00000145908ENST00000446148p.C435Yc.1304G>ASubstitution - Missense
SIMC1ENSG00000170085ENST00000332772p.Q44*c.130C>TSubstitution - Nonsense
TENM2ENSG00000145934ENST00000545108p.N1498Nc.4494C>TSubstitution - coding silent
ENST00000231228_v70p.L103Qc.308T>ASubstitution - Missense
ADAM19ENSG00000135074ENST00000394020p.A338Vc.1013C>TSubstitution - Missense
RAI14ENSG00000039560ENST00000397449p.S902Sc.2706C>TSubstitution - coding silent
TRDNENSG00000186439ENST00000542443p.I57Vc.169A>GSubstitution - Missense
MICAL1ENSG00000135596ENST00000368952p.A811Vc.2432C>TSubstitution - Missense
CASTENSG00000153113ENST00000395813p.K789Nc.2367A>TSubstitution - Missense
MYBENSG00000118513ENST00000316528p.S658Sc.1974C>TSubstitution - coding silent
PTPRKENSG00000152894ENST00000368227p.I1248Vc.3742A>GSubstitution - Missense
JARID2ENSG00000008083ENST00000541660p.P712Lc.2135C>TSubstitution - Missense
TTLL9ENSG00000131044ENST00000310998p.K60Kc.180G>ASubstitution - coding silent
VPS16ENSG00000215305ENST00000380443p.L171Lc.513G>ASubstitution - coding silent
ENTPD6ENSG00000197586ENST00000433259p.Q119Rc.356A>GSubstitution - Missense
OR7G1ENSG00000161807ENST00000541538p.W141Cc.423G>TSubstitution - Missense
LAMA5ENSG00000130702ENST00000370692p.T257Ic.770C>TSubstitution - Missense
LAMA5ENSG00000130702ENST00000370677p.T257Ic.770C>TSubstitution - Missense
DIDO1ENSG00000101191ENST00000395335p.T927Tc.2781G>ASubstitution - coding silent
LSM14BENSG00000149657ENST00000253001p.P113Sc.337C>TSubstitution - Missense
LSM14BENSG00000149657ENST00000400318p.P139Sc.415C>TSubstitution - Missense
SONENSG00000159140ENST00000290239p.R1927Hc.5780G>ASubstitution - Missense
PLCB4ENSG00000101333ENST00000378473p.?c.1414+6T>CUnknown
DIDO1ENSG00000101191ENST00000395335p.A521Tc.1561G>ASubstitution - Missense
DIDO1ENSG00000101191ENST00000395335p.A81Vc.242C>TSubstitution - Missense
AP1B1ENSG00000100280ENST00000415447p.A141Tc.421G>ASubstitution - Missense
PPIL2ENSG00000100023ENST00000412327p.C15Yc.44G>ASubstitution - Missense
BCRENSG00000186716ENST00000398512p.R44Gc.130C>GSubstitution - Missense
RANBP1ENSG00000099901ENST00000430524p.P22Ac.64C>GSubstitution - Missense
CECR5ENSG00000069998ENST00000155674p.S174Nc.521G>ASubstitution - Missense
TMPRSS3ENSG00000160183ENST00000380399p.G435Ac.1304G>CSubstitution - Missense
SONENSG00000159140ENST00000290239p.G1319Rc.3955G>ASubstitution - Missense
CACNA1IENSG00000100346ENST00000400164p.V1275Mc.3823G>ASubstitution - Missense
CACNA1IENSG00000100346ENST00000336649p.L1615Mc.4843C>ASubstitution - Missense
DEPDC5ENSG00000100150ENST00000536766p.L23Lc.67C>TSubstitution - coding silent
AP1B1ENSG00000100280ENST00000415447p.R520Wc.1558C>TSubstitution - Missense
RGPD4ENSG00000196862ENST00000354986p.P517Tc.1549C>ASubstitution - Missense
MIOXENSG00000100253ENST00000395733p.T32Tc.96G>ASubstitution - coding silent
ENST00000357802p.F100Fc.300C>TSubstitution - coding silent
ENST00000357802p.Q79Qc.237G>ASubstitution - coding silent
CACNA1IENSG00000100346ENST00000400164p.L1574Mc.4720C>ASubstitution - Missense
PROCENSG00000115718ENST00000453608p.A356Tc.1066G>ASubstitution - Missense
POTEFENSG00000196604ENST00000361163p.V135Ic.403G>ASubstitution - Missense
STEAP3ENSG00000115107ENST00000393110p.C271Cc.813C>TSubstitution - coding silent
SCN1AENSG00000144285ENST00000423058p.L632Lc.1894C>TSubstitution - coding silent
SCN1AENSG00000144285ENST00000423058p.T1250Mc.3749C>TSubstitution - Missense
COBLL1ENSG00000082438ENST00000194871p.V454Ac.1361T>CSubstitution - Missense
KIAA1715ENSG00000144320ENST00000544803p.A458Tc.1372G>ASubstitution - Missense
SMC6ENSG00000163029ENST00000381272p.Q760Hc.2280G>CSubstitution - Missense
KLF7ENSG00000118263ENST00000412414p.R47Hc.140G>ASubstitution - Missense
GULP1ENSG00000144366ENST00000410051p.R47Kc.140G>ASubstitution - Missense
UGT1A8ENSG00000241635ENST00000360418p.G96Rc.286G>ASubstitution - Missense
ABCB6ENSG00000115657ENST00000265316p.A164Vc.491C>TSubstitution - Missense
FN1ENSG00000115414ENST00000426059p.R479Hc.1436G>ASubstitution - Missense
ADAM23ENSG00000114948ENST00000374415p.D702Nc.2104G>ASubstitution - Missense
NM_206943.1p.A1502Ac.4506G>ASubstitution - coding silent
LTBP1ENSG00000049323ENST00000407925p.A1175Ac.3525G>ASubstitution - coding silent
PLB1ENSG00000163803ENST00000329020p.?c.1312-4A>CUnknown
CENPOENSG00000138092ENST00000473706p.V35Mc.103G>ASubstitution - Missense
KIF1AENSG00000130294ENST00000498729p.S1594Tc.4780T>ASubstitution - Missense
ANKMY1ENSG00000144504ENST00000405523p.E35Kc.103G>ASubstitution - Missense
MEMO1ENSG00000162959ENST00000379383p.R107Hc.320G>ASubstitution - Missense
CCDC142ENSG00000135637ENST00000393965p.Y526Yc.1578C>TSubstitution - coding silent
CCDC142ENSG00000135637ENST00000393965p.W57*c.170G>ASubstitution - Nonsense
ARHGAP25ENSG00000163219ENST00000497079p.S31Lc.92C>TSubstitution - Missense
KIAA1407ENSG00000163617ENST00000545063p.R34Hc.101G>ASubstitution - Missense
ITPRIPL1ENSG00000198885ENST00000439118p.A222Tc.664G>ASubstitution - Missense
CNNM4ENSG00000158158ENST00000540067p.R86Rc.258C>TSubstitution - coding silent
KIDINS220ENSG00000134313ENST00000319688p.Q491Qc.1473G>ASubstitution - coding silent
SH2D6ENSG00000152292ENST00000389938p.A50Tc.148G>ASubstitution - Missense
CD8AENSG00000153563ENST00000538832p.R102Rc.306C>TSubstitution - coding silent
LBX2ENSG00000179528ENST00000377566p.I194Kc.581T>ASubstitution - Missense
PLXND1ENSG00000004399ENST00000393239p.A1684Ac.5052G>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.D3829Vc.11486A>TSubstitution - Missense
ENST00000405167p.D3829Vc.11486A>TSubstitution - Missense
ENST00000421660p.P483Sc.1447C>TSubstitution - Missense
CACNA1HENSG00000196557ENST00000348261p.Q1450*c.4348C>TSubstitution - Nonsense
CLEC16AENSG00000038532ENST00000381822p.T88Mc.263C>TSubstitution - Missense
C15orf39ENSG00000167173ENST00000567617p.S455Nc.1364G>ASubstitution - Missense
PMLENSG00000140464ENST00000569477p.I459Ic.1377C>TSubstitution - coding silent
C15orf39ENSG00000167173ENST00000567617p.L87Lc.261G>ASubstitution - coding silent
C15orf39ENSG00000167173ENST00000567617p.A128Vc.383C>TSubstitution - Missense
ABCC1ENSG00000103222ENST00000399408p.V1040Mc.3118G>ASubstitution - Missense
ENST00000301714p.P58Pc.174G>TSubstitution - coding silent
SLC12A4ENSG00000124067ENST00000541864p.L910Lc.2728C>TSubstitution - coding silent
GPR56ENSG00000205336ENST00000566508p.M83Ic.249G>ASubstitution - Missense
MAPK3ENSG00000102882ENST00000403394p.Q44Kc.130C>ASubstitution - Missense
MAPK3ENSG00000102882ENST00000403394p.G33Ec.98G>ASubstitution - Missense
TAOK2ENSG00000149930ENST00000416441p.P268Lc.803C>TSubstitution - Missense
MAPK3ENSG00000102882ENST00000403394p.Q137Hc.411G>TSubstitution - Missense
ATXN2LENSG00000168488ENST00000325215p.P928Lc.2783C>TSubstitution - Missense
ATXN2LENSG00000168488ENST00000340394p.P928Lc.2783C>TSubstitution - Missense
FLYWCH1ENSG00000059122ENST00000399667p.G56Gc.168A>GSubstitution - coding silent
ENST00000395988p.K28Tc.83A>CSubstitution - Missense
MYO1CENSG00000197879ENST00000359786p.A1026Gc.3077C>GSubstitution - Missense
SLC12A4ENSG00000124067ENST00000537830p.S462Sc.1386C>TSubstitution - coding silent
SLC12A4ENSG00000124067ENST00000541864p.?c.451+10C>TUnknown
SLC12A4ENSG00000124067ENST00000541864p.A117Ec.350C>ASubstitution - Missense
ZNF207ENSG00000010244ENST00000394670p.P260Sc.778C>TSubstitution - Missense
KIAA0100ENSG00000007202ENST00000528896p.I459Ic.1377C>ASubstitution - coding silent
FBXW10ENSG00000171931ENST00000308799p.V538Ic.1612G>ASubstitution - Missense
RAI1ENSG00000108557ENST00000261641p.L602Lc.1806G>ASubstitution - coding silent
MYO1CENSG00000197879ENST00000359786p.I307Ic.921C>TSubstitution - coding silent
COASYENSG00000068120ENST00000590958p.V209Mc.625G>ASubstitution - Missense
COASYENSG00000068120ENST00000590958p.L564Lc.1692G>ASubstitution - coding silent
HAP1ENSG00000173805ENST00000310778p.A34Tc.100G>ASubstitution - Missense
CAMTA2ENSG00000108509ENST00000414043p.?c.3074+1G>AUnknown
EXOC7ENSG00000182473ENST00000335146p.H578Qc.1734C>ASubstitution - Missense
EXOC7ENSG00000182473ENST00000335146p.V499Ic.1495G>ASubstitution - Missense
RNF157ENSG00000141576ENST00000269391p.S424Nc.1271G>ASubstitution - Missense
ABCA8ENSG00000141338ENST00000430352p.S1058Sc.3174C>ASubstitution - coding silent
ABCA8ENSG00000141338ENST00000430352p.?c.3037-1G>TUnknown
PIEZO2ENSG00000154864ENST00000383408p.T46Ic.137C>TSubstitution - Missense
MYH10ENSG00000133026ENST00000396239p.Q1809Hc.5427G>TSubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.?c.5861+4C>TUnknown
DNAH17ENSG00000187775ENST00000389840p.E726Gc.2177A>GSubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.Q3758Rc.11273A>GSubstitution - Missense
C19orf66ENSG00000130813ENST00000397881p.L183Lc.549G>ASubstitution - coding silent
FAM69CENSG00000187773ENST00000343998p.?c.1042-1G>TUnknown
FAM69CENSG00000187773ENST00000400291p.?c.145-1G>TUnknown
FAM129CENSG00000167483ENST00000595684p.S390Sc.1170G>ASubstitution - coding silent
ENST00000344943p.S74Sc.222C>TSubstitution - coding silent
GCDHENSG00000105607ENST00000422947p.M295Ic.885G>ASubstitution - Missense
HMHA1ENSG00000180448ENST00000536472p.?c.1032+1G>TUnknown
HMHA1ENSG00000180448ENST00000536472p.Y397Yc.1191C>TSubstitution - coding silent
ICAM4ENSG00000105371ENST00000380770p.L101Lc.303G>ASubstitution - coding silent
AP3D1ENSG00000065000ENST00000355272p.R556Qc.1667G>ASubstitution - Missense
AP3D1ENSG00000065000ENST00000355272p.G129Sc.385G>ASubstitution - Missense
AP3D1ENSG00000065000ENST00000356926p.A1016Tc.3046G>ASubstitution - Missense
SUGP2ENSG00000064607ENST00000456085p.E572Kc.1714G>ASubstitution - Missense
GTPBP3ENSG00000130299ENST00000361619p.H188Hc.564C>TSubstitution - coding silent
ENST00000263281_v70p.?c.634-4C>AUnknown
ZNF233ENSG00000159915ENST00000334152p.K516Tc.1547A>CSubstitution - Missense
ENST00000221462_v70p.N257Sc.770A>GSubstitution - Missense
ZNF574ENSG00000105732ENST00000222339p.R557Hc.1670G>ASubstitution - Missense
PAF1ENSG00000006712ENST00000595564p.R16Sc.48G>TSubstitution - Missense
KLK12ENSG00000186474ENST00000525263p.C133Yc.398G>ASubstitution - Missense
STRN4ENSG00000090372ENST00000391910p.L353Fc.1057C>TSubstitution - Missense
STRN4ENSG00000090372ENST00000391910p.K352Nc.1056A>TSubstitution - Missense
ZBTB45ENSG00000119574ENST00000594051p.P161Hc.482C>ASubstitution - Missense
NBEAENSG00000172915ENST00000400445p.R2666Wc.7996C>TSubstitution - Missense
ATP12AENSG00000075673ENST00000218548p.R668Hc.2003G>ASubstitution - Missense
ANKS1BENSG00000185046ENST00000329257p.?c.2420-1G>AUnknown
DOCK9ENSG00000088387ENST00000442173p.Y603*c.1809C>ASubstitution - Nonsense
NAA16ENSG00000172766ENST00000379367p.D112Yc.334G>TSubstitution - Missense
AP4B1ENSG00000134262ENST00000369566p.I87Ic.261C>TSubstitution - coding silent
ENST00000361928p.L75Fc.223C>TSubstitution - Missense
PIAS3ENSG00000131788ENST00000369299p.S43Nc.128G>ASubstitution - Missense
PRDM2ENSG00000116731ENST00000376048p.G133Sc.397G>ASubstitution - Missense
MAD2L2ENSG00000116670ENST00000376672p.R137Wc.409C>TSubstitution - Missense
ENST00000368677p.R15Qc.44G>ASubstitution - Missense
GATAD2BENSG00000143614ENST00000368655p.I560Ic.1680C>TSubstitution - coding silent
ZNF687ENSG00000143373ENST00000368879p.L449Lc.1347G>TSubstitution - coding silent
SETDB1ENSG00000143379ENST00000498193p.Q802*c.2404C>TSubstitution - Nonsense
SETDB1ENSG00000143379ENST00000498193p.L847Lc.2541G>ASubstitution - coding silent
CDK11BENSG00000248333ENST00000317673p.W590*c.1770G>ASubstitution - Nonsense
CDK11BENSG00000248333ENST00000317673p.W590Rc.1768T>ASubstitution - Missense
ARHGEF2ENSG00000116584ENST00000361247p.I527Ic.1581C>ASubstitution - coding silent
DCST1ENSG00000163357ENST00000368419p.L348Fc.1042C>TSubstitution - Missense
UBAP2LENSG00000143569ENST00000271877p.S478Sc.1434G>ASubstitution - coding silent
UBAP2LENSG00000143569ENST00000271877p.?c.1524+1G>AUnknown
TBX19ENSG00000143178ENST00000441464p.H114Yc.340C>TSubstitution - Missense
ZBTB17ENSG00000116809ENST00000375733p.R621Cc.1861C>TSubstitution - Missense
NCSTNENSG00000162736ENST00000368063p.L77Lc.229C>TSubstitution - coding silent
NCSTNENSG00000162736ENST00000437169p.L97Lc.289C>TSubstitution - coding silent
KIF21BENSG00000116852ENST00000422435p.?c.3030+7G>AUnknown
UBR4ENSG00000127481ENST00000375267p.G2796Sc.8386G>ASubstitution - Missense
COLGALT2ENSG00000198756ENST00000367520p.R88Hc.263G>ASubstitution - Missense
HHATENSG00000054392ENST00000545154p.H33Yc.97C>TSubstitution - Missense
NFASCENSG00000163531ENST00000367172p.M837Ic.2511G>ASubstitution - Missense
NFASCENSG00000163531ENST00000367172p.R302Cc.904C>TSubstitution - Missense
NFASCENSG00000163531ENST00000367171p.R302Cc.904C>TSubstitution - Missense
LGR6ENSG00000133067ENST00000255432p.P893Lc.2678C>TSubstitution - Missense
LGR6ENSG00000133067ENST00000439764p.P806Lc.2417C>TSubstitution - Missense
ACTN2ENSG00000077522ENST00000542672p.L728Lc.2182C>TSubstitution - coding silent
ITPKBENSG00000143772ENST00000366784p.R442Kc.1325G>ASubstitution - Missense
SRRM1ENSG00000133226ENST00000447431p.R195Cc.583C>TSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.G708Gc.2124C>TSubstitution - coding silent
LCKENSG00000182866ENST00000333070p.A530Tc.1588G>ASubstitution - Missense
LCKENSG00000182866ENST00000333070p.A383Vc.1148C>TSubstitution - Missense
HCRTR1ENSG00000121764ENST00000373705p.L137Lc.411C>GSubstitution - coding silent
ENST00000485269p.P81Pc.243G>ASubstitution - coding silent
MAP3K6ENSG00000142733ENST00000374040p.Q933Qc.2799G>ASubstitution - coding silent
TESK2ENSG00000070759ENST00000372086p.V472Mc.1414G>ASubstitution - Missense
DOCK7ENSG00000116641ENST00000251157p.M363Vc.1087A>GSubstitution - Missense
DOCK7ENSG00000116641ENST00000404627p.M363Vc.1087A>GSubstitution - Missense
OMA1ENSG00000162600ENST00000358603p.S237Sc.711G>ASubstitution - coding silent
SRSF11ENSG00000116754ENST00000454435p.V34Vc.102A>GSubstitution - coding silent
LEPRENSG00000116678ENST00000371059p.S343Rc.1029T>ASubstitution - Missense
ABCA4ENSG00000198691ENST00000535735p.E828Ac.2483A>CSubstitution - Missense
ABCA4ENSG00000198691ENST00000535735p.I619Ic.1857C>TSubstitution - coding silent
ABCA4ENSG00000198691ENST00000535735p.Q71*c.211C>TSubstitution - Nonsense
NFATC4ENSG00000100968ENST00000555453p.P881Hc.2642C>ASubstitution - Missense
DHRS4L2ENSG00000187630ENST00000545240p.T75Tc.225G>ASubstitution - coding silent
MTA1ENSG00000182979ENST00000435036p.F198Lc.594C>GSubstitution - Missense
C14orf80ENSG00000185347ENST00000392523p.E224Kc.670G>ASubstitution - Missense
NINENSG00000100503ENST00000453196p.G1330Gc.3990C>TSubstitution - coding silent
TTC6ENSG00000139865ENST00000382320p.E7Ec.21G>ASubstitution - coding silent
CHRNA7ENSG00000175344ENST00000454250p.V403Mc.1207G>ASubstitution - Missense
SLC12A6ENSG00000140199ENST00000397707p.V312Vc.936C>TSubstitution - coding silent
PAPOLAENSG00000090060ENST00000557320p.?c.331+8T>CUnknown
GPATCH2LENSG00000089916ENST00000556663p.T197Ic.590C>TSubstitution - Missense
SHFENSG00000138606ENST00000318390p.S383Sc.1149C>ASubstitution - coding silent
SHFENSG00000138606ENST00000318390p.A89Tc.265G>ASubstitution - Missense
MYO19ENSG00000141140ENST00000586007p.S86Sc.258G>ASubstitution - coding silent
ESYT1ENSG00000139641ENST00000541590p.A53Vc.158C>TSubstitution - Missense
SLAMF6ENSG00000162739ENST00000368057p.R85*c.253C>TSubstitution - Nonsense
MAST4ENSG00000069020ENST00000261569p.R1335Rc.4005C>TSubstitution - coding silent
FLYWCH1ENSG00000059122ENST00000399667p.I699Ic.2097C>TSubstitution - coding silent
OTUB1ENSG00000167770ENST00000543004p.R92Hc.275G>ASubstitution - Missense
MEX3DENSG00000181588ENST00000388824p.P267Pc.801G>ASubstitution - coding silent
CLASP1ENSG00000074054ENST00000455322p.A459Tc.1375G>ASubstitution - Missense
CLASP1ENSG00000074054ENST00000397587p.A459Tc.1375G>ASubstitution - Missense
CLASP1ENSG00000074054ENST00000541859p.A228Tc.682G>ASubstitution - Missense
VWA2ENSG00000165816ENST00000392982p.R526Qc.1577G>ASubstitution - Missense
PITRM1ENSG00000107959ENST00000224949p.F443Fc.1329T>CSubstitution - coding silent
ARMC4ENSG00000169126ENST00000434029p.?c.258-1G>AUnknown
ZNF511ENSG00000198546ENST00000359035p.R222Wc.664C>TSubstitution - Missense
KNDC1ENSG00000171798ENST00000368572p.A1004Ac.3012C>TSubstitution - coding silent
ZNF511ENSG00000198546ENST00000359035p.P192Lc.575C>TSubstitution - Missense
ENST00000368674p.R44Rc.132C>TSubstitution - coding silent
DOCK1ENSG00000150760ENST00000280333p.?c.4713+10C>TUnknown
ARHGAP22ENSG00000128805ENST00000417247p.E87Dc.261G>TSubstitution - Missense
ENST00000302418_v70p.?c.214+5A>GUnknown
NDST2ENSG00000166507ENST00000429742p.R25Hc.74G>ASubstitution - Missense
CDH23ENSG00000107736ENST00000442677p.A582Vc.1745C>TSubstitution - Missense
ENST00000373120p.D119Dc.357C>TSubstitution - coding silent
ARHGAP20ENSG00000137727ENST00000533353p.A1081Tc.3241G>ASubstitution - Missense
CRTAC1ENSG00000095713ENST00000370591p.C258Cc.774C>TSubstitution - coding silent
RBP4ENSG00000138207ENST00000371469p.A178Sc.532G>TSubstitution - Missense
KCNQ1ENSG00000053918ENST00000335475p.A160Vc.479C>TSubstitution - Missense
PARVAENSG00000197702ENST00000538608p.E113Kc.337G>ASubstitution - Missense
HYOU1ENSG00000149428ENST00000543287p.Q171*c.511C>TSubstitution - Nonsense
MYBPC3ENSG00000134571ENST00000545968p.D1220Yc.3658G>TSubstitution - Missense
NUP98ENSG00000110713ENST00000397007p.Q218Qc.654G>ASubstitution - coding silent
SIGIRRENSG00000185187ENST00000382520p.P455Pc.1365G>ASubstitution - coding silent
SIGIRRENSG00000185187ENST00000382520p.?c.341-4G>AUnknown
API5ENSG00000166181ENST00000534600p.C263Yc.788G>ASubstitution - Missense
OR5R1ENSG00000174942ENST00000312253p.S211Cc.632C>GSubstitution - Missense
MS4A14ENSG00000166928ENST00000395001p.S6Yc.17C>ASubstitution - Missense
CTNND1ENSG00000198561ENST00000399050p.R396Cc.1186C>TSubstitution - Missense
CTNND1ENSG00000198561ENST00000361391p.R396Cc.1186C>TSubstitution - Missense
CTNND1ENSG00000198561ENST00000399050p.E772Kc.2314G>ASubstitution - Missense
RTN4RL2ENSG00000186907ENST00000335099p.C385Yc.1154G>ASubstitution - Missense
SHANK2ENSG00000162105ENST00000423696p.R891Wc.2671C>TSubstitution - Missense
ENST00000398606_v70p.R71Cc.211C>TSubstitution - Missense
ENST00000317568_v70p.A8Ac.24C>ASubstitution - coding silent
ATG2AENSG00000110046ENST00000377264p.H1221Hc.3663C>TSubstitution - coding silent
TTC9CENSG00000162222ENST00000513247p.E154Kc.460G>ASubstitution - Missense
NXF1ENSG00000162231ENST00000531709p.R30Qc.89G>ASubstitution - Missense
MYRFENSG00000124920ENST00000278836p.A110Tc.328G>ASubstitution - Missense
TXNRD1ENSG00000198431ENST00000427956p.P529Sc.1585C>TSubstitution - Missense
FAT3ENSG00000165323ENST00000541502p.R236Qc.707G>ASubstitution - Missense
CCDC64ENSG00000135127ENST00000257583p.Q16*c.46C>TSubstitution - Nonsense
ACAD10ENSG00000111271ENST00000455480p.K298Kc.894A>GSubstitution - coding silent
ENST00000545759p.R107Wc.319C>TSubstitution - Missense
UBE3BENSG00000151148ENST00000280774p.T269Pc.805A>CSubstitution - Missense
ENST00000312777_v70p.R22*c.64C>TSubstitution - Nonsense
CNTN1ENSG00000018236ENST00000547849p.R235*c.703C>TSubstitution - Nonsense
ITFG2ENSG00000111203ENST00000542548p.Q132Qc.396G>ASubstitution - coding silent
RIMBP2ENSG00000060709ENST00000536002p.V223Mc.667G>ASubstitution - Missense
NACAENSG00000196531ENST00000454682p.P1244Qc.3731C>ASubstitution - Missense
SHMT2ENSG00000182199ENST00000393827p.?c.835+10C>TUnknown
ESYT1ENSG00000139641ENST00000541590p.L142Fc.424C>TSubstitution - Missense
ITGA7ENSG00000135424ENST00000257880p.S740Sc.2220G>ASubstitution - coding silent
HOXC6ENSG00000197757ENST00000509328p.Q45*c.133C>TSubstitution - Nonsense
PPFIA2ENSG00000139220ENST00000333447p.S815Lc.2444C>TSubstitution - Missense
MON2ENSG00000061987ENST00000280379p.M1582Ic.4746G>ASubstitution - Missense
FGFR4ENSG00000160867ENST00000292410p.T720Tc.2160C>TSubstitution - coding silent
FGFR4ENSG00000160867ENST00000292408p.A296Ac.888C>TSubstitution - coding silent
HK3ENSG00000160883ENST00000292432p.G904Dc.2711G>ASubstitution - Missense
SEPP1ENSG00000250722ENST00000514985p.G251Sc.751G>ASubstitution - Missense
CLK4ENSG00000113240ENST00000316308p.V295Vc.885G>ASubstitution - coding silent
CLK4ENSG00000113240ENST00000316308p.V295Vc.885G>ASubstitution - coding silent
FAM153AENSG00000170074ENST00000360669p.P164Lc.491C>TSubstitution - Missense
DBN1ENSG00000113758ENST00000292385p.Q210*c.628C>TSubstitution - Nonsense
DBN1ENSG00000113758ENST00000309007p.Q208*c.622C>TSubstitution - Nonsense
DBN1ENSG00000113758ENST00000292385p.Q594fs*>58c.1780delCDeletion - Frameshift
DBN1ENSG00000113758ENST00000309007p.Q592fs*>58c.1774delCDeletion - Frameshift
DBN1ENSG00000113758ENST00000309007p.V436Mc.1306G>ASubstitution - Missense
ADAMTS16ENSG00000145536ENST00000274181p.T317Tc.951G>ASubstitution - coding silent
NM_139056.1p.T317Tc.951G>ASubstitution - coding silent
XM_042066p.Q718*c.2152C>TSubstitution - Nonsense
IL6STENSG00000134352ENST00000381298p.T586Ic.1757C>TSubstitution - Missense
CWC27ENSG00000153015ENST00000381070p.D148Dc.444C>TSubstitution - coding silent
ELOVL7ENSG00000164181ENST00000508821p.V271Mc.811G>ASubstitution - Missense
EHMT2ENSG00000204371ENST00000375537p.G829Gc.2487C>TSubstitution - coding silent
VARSENSG00000204394ENST00000375663p.R1116*c.3346C>TSubstitution - Nonsense
VARSENSG00000204394ENST00000375663p.I40Ic.120C>TSubstitution - coding silent
HSPA1LENSG00000204390ENST00000375654p.V165Vc.495G>ASubstitution - coding silent
MSH5ENSG00000204410ENST00000375703p.F742Lc.2226C>ASubstitution - Missense
ENST00000491552p.F127Lc.381C>ASubstitution - Missense
VWA7ENSG00000204396ENST00000375688p.A545Tc.1633G>ASubstitution - Missense
C6orf25ENSG00000204420ENST00000375809p.H121Qc.363C>ASubstitution - Missense
DDAH2ENSG00000213722ENST00000375787p.V260Mc.778G>ASubstitution - Missense
DDAH2ENSG00000213722ENST00000375787p.P259Sc.775C>TSubstitution - Missense
MSH5ENSG00000204410ENST00000375742p.C452Yc.1355G>ASubstitution - Missense
MSH5ENSG00000204410ENST00000375703p.C435Yc.1304G>ASubstitution - Missense
ABHD16AENSG00000204427ENST00000395952p.T192Rc.575C>GSubstitution - Missense
LY6G6FENSG00000204424ENST00000375832p.D219Nc.655G>ASubstitution - Missense
ATF6BENSG00000213676ENST00000375203p.?c.966+7G>TUnknown
CFBENSG00000243649ENST00000425368p.R379Hc.1136G>ASubstitution - Missense
EHMT2ENSG00000204371ENST00000375537p.D552Dc.1656C>TSubstitution - coding silent
HSPA1AENSG00000204389ENST00000375651p.I578Fc.1732A>TSubstitution - Missense
HSPA1AENSG00000204389ENST00000375651p.W580Lc.1739G>TSubstitution - Missense
C6orf48ENSG00000204387ENST00000395788p.L35Lc.103C>TSubstitution - coding silent
EHMT2ENSG00000204371ENST00000375537p.C866*c.2598C>ASubstitution - Nonsense
PSMB8ENSG00000204264ENST00000374882p.D123Nc.367G>ASubstitution - Missense
UQCC2ENSG00000137288ENST00000374231p.Q46Qc.138G>ASubstitution - coding silent
ITPR3ENSG00000096433ENST00000374316p.V381Mc.1141G>ASubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.V381Mc.1141G>ASubstitution - Missense
SYNGAP1ENSG00000197283ENST00000418600p.S861Sc.2583G>ASubstitution - coding silent
ZBTB22ENSG00000236104ENST00000418724p.V456Mc.1366G>ASubstitution - Missense
SLC22A23ENSG00000137266ENST00000380302p.F72fs*18c.213delCDeletion - Frameshift
RGL2ENSG00000237441ENST00000497454p.A308fs*11c.922delGDeletion - Frameshift
ABCC10ENSG00000124574ENST00000244533p.G1093Vc.3278G>TSubstitution - Missense
ZNF76ENSG00000065029ENST00000373953p.R187*c.559C>TSubstitution - Nonsense
SCUBE3ENSG00000146197ENST00000274938p.K865Kc.2595G>ASubstitution - coding silent
GPR111ENSG00000164393ENST00000296862p.I654Tc.1961T>CSubstitution - Missense
TFAP2BENSG00000008196ENST00000393655p.Q75Qc.225G>ASubstitution - coding silent
GLYATL3ENSG00000203972ENST00000371197p.A160Gc.479C>GSubstitution - Missense
MLIPENSG00000146147ENST00000274897p.?c.940-4G>AUnknown
EFHC1ENSG00000096093ENST00000371068p.L57Lc.169C>TSubstitution - coding silent
PKHD1ENSG00000170927ENST00000340994p.L693Lc.2079G>TSubstitution - coding silent
IL17FENSG00000112116ENST00000336123p.H7Yc.19C>TSubstitution - Missense
OR5M9ENSG00000150269ENST00000279791p.R309Rc.927G>ASubstitution - coding silent
NM_024114.2p.?c.530+6T>AUnknown
ENST00000356567p.R140Hc.419G>ASubstitution - Missense
DIDO1ENSG00000101191ENST00000395335p.R83Hc.248G>ASubstitution - Missense
FAM78AENSG00000126882ENST00000372269p.L262Lc.786C>TSubstitution - coding silent
FAM78AENSG00000126882ENST00000464831p.L234Lc.702C>TSubstitution - coding silent
MYOM3ENSG00000142661ENST00000329601p.V139Vc.417C>TSubstitution - coding silent
PKN3ENSG00000160447ENST00000291906p.C465fs*43c.1387delCDeletion - Frameshift
WDR34ENSG00000119333ENST00000372715p.T67Tc.201G>ASubstitution - coding silent
SPTAN1ENSG00000197694ENST00000372739p.?c.5993-10C>TUnknown
SPTAN1ENSG00000197694ENST00000372731p.A288Vc.863C>TSubstitution - Missense
COQ4ENSG00000167113ENST00000300452p.I204Tc.611T>CSubstitution - Missense
CIZ1ENSG00000148337ENST00000372938p.R620Wc.1858C>TSubstitution - Missense
USP20ENSG00000136878ENST00000372429p.S305Sc.915G>ASubstitution - coding silent
USP20ENSG00000136878ENST00000372429p.S305Sc.915G>ASubstitution - coding silent
USP20ENSG00000136878ENST00000372429p.V396Ic.1186G>ASubstitution - Missense
USP20ENSG00000136878ENST00000372429p.V396Ic.1186G>ASubstitution - Missense
USP20ENSG00000136878ENST00000372429p.D550Nc.1648G>ASubstitution - Missense
USP20ENSG00000136878ENST00000372429p.S686Nc.2057G>ASubstitution - Missense
NM_178001.1p.?c.217-4G>CUnknown
PHYHD1ENSG00000175287ENST00000308941p.L246Lc.738G>ASubstitution - coding silent
PHYHD1ENSG00000175287ENST00000372592p.D254Nc.760G>ASubstitution - Missense
LRRC8AENSG00000136802ENST00000372599p.D258Nc.772G>ASubstitution - Missense
NUP214ENSG00000126883ENST00000359428p.T1384Mc.4151C>TSubstitution - Missense
LAMC3ENSG00000050555ENST00000361069p.R735Cc.2203C>TSubstitution - Missense
LAMC3ENSG00000050555ENST00000361069p.A1132Vc.3395C>TSubstitution - Missense
FUBP3ENSG00000107164ENST00000319725p.Q505Hc.1515G>TSubstitution - Missense
FNBP1ENSG00000187239ENST00000446176p.H338fs*38c.1012delCDeletion - Frameshift
HTR3EENSG00000186038ENST00000335304p.R374Kc.1121G>ASubstitution - Missense
YEATS2ENSG00000163872ENST00000305135p.P483Sc.1447C>TSubstitution - Missense
POMT1ENSG00000130714ENST00000372228p.H405Hc.1215C>TSubstitution - coding silent
FAM78AENSG00000126882ENST00000372269p.C59Yc.176G>ASubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.R505*c.1513C>TSubstitution - Nonsense
PRRC2BENSG00000130723ENST00000357304p.R505*c.1513C>TSubstitution - Nonsense
EPHB3ENSG00000182580ENST00000330394p.V947Ic.2839G>ASubstitution - Missense
RTP1ENSG00000175077ENST00000312295p.I3Nc.8T>ASubstitution - Missense
PPIDENSG00000171497ENST00000307720p.V22Vc.66G>CSubstitution - coding silent
RXFP1ENSG00000171509ENST00000307765p.E623fs*2c.1861delADeletion - Frameshift
ENST00000417442p.S294Cc.881C>GSubstitution - Missense
ACAP2ENSG00000114331ENST00000326793p.S578Pc.1732T>CSubstitution - Missense
DDX60ENSG00000137628ENST00000393743p.D1691Dc.5073C>TSubstitution - coding silent
CPEENSG00000109472ENST00000402744p.N139Tc.416A>CSubstitution - Missense
NPY5RENSG00000164129ENST00000338566p.P300fs*20c.898delCDeletion - Frameshift
PROM1ENSG00000007062ENST00000447510p.I110Vc.328A>GSubstitution - Missense
GPM6AENSG00000150625ENST00000393658p.?c.387+2T>CUnknown
GLRA3ENSG00000145451ENST00000274093p.M417Kc.1250T>ASubstitution - Missense
MFAP3LENSG00000198948ENST00000361618p.D398Ec.1194C>ASubstitution - Missense
TACC3ENSG00000013810ENST00000313288p.E530Dc.1590G>TSubstitution - Missense
SLBPENSG00000163950ENST00000489418p.P125Pc.375G>ASubstitution - coding silent
LETM1ENSG00000168924ENST00000302787p.R201Rc.603G>TSubstitution - coding silent
LETM1ENSG00000168924ENST00000302787p.R201Qc.602G>ASubstitution - Missense
AGAENSG00000038002ENST00000264595p.P181Lc.542C>TSubstitution - Missense
SLIT3ENSG00000184347ENST00000519560p.L801Lc.2403C>ASubstitution - coding silent
WWC2ENSG00000151718ENST00000403733p.Q1166Qc.3498G>ASubstitution - coding silent
TRAPPC11ENSG00000168538ENST00000334690p.?c.832-4G>AUnknown
RNF44ENSG00000146083ENST00000274811p.Q89*c.265C>TSubstitution - Nonsense
NKX2-5ENSG00000183072ENST00000329198p.R25Hc.74G>ASubstitution - Missense
STK10ENSG00000072786ENST00000176763p.T212Tc.636G>ASubstitution - coding silent
TLX3ENSG00000164438ENST00000296921p.G37Cc.109G>TSubstitution - Missense
PRELID1ENSG00000169230ENST00000303204p.S140Sc.420C>TSubstitution - coding silent
LMAN2ENSG00000169223ENST00000303127p.R314Rc.942C>TSubstitution - coding silent
LMAN2ENSG00000169223ENST00000303127p.I287Ic.861C>TSubstitution - coding silent
SLC34A1ENSG00000131183ENST00000324417p.P42Pc.126G>TSubstitution - coding silent
SLC34A1ENSG00000131183ENST00000324417p.A218Tc.652G>ASubstitution - Missense
SLC34A1ENSG00000131183ENST00000324417p.D282Ec.846C>ASubstitution - Missense
FGFR4ENSG00000160867ENST00000292408p.?c.1251+3A>GUnknown
FGFR4ENSG00000160867ENST00000292410p.T354Ac.1060A>GSubstitution - Missense
FGFR4ENSG00000160867ENST00000292408p.P570Pc.1710C>GSubstitution - coding silent
FGFR4ENSG00000160867ENST00000292408p.T667Ic.2000C>TSubstitution - Missense
FGFR4ENSG00000160867ENST00000292410p.T627Ic.1880C>TSubstitution - Missense
FGFR4ENSG00000160867ENST00000292408p.?c.2015+8C>AUnknown
SERPIND1ENSG00000099937ENST00000215727p.A134Vc.401C>TSubstitution - Missense
MED15ENSG00000099917ENST00000263205p.M136Ic.408G>ASubstitution - Missense
MED15ENSG00000099917ENST00000263205p.P402Pc.1206G>ASubstitution - coding silent
KIAA1671ENSG00000197077ENST00000358431p.Q1279Kc.3835C>ASubstitution - Missense
SPECC1LENSG00000100014ENST00000314328p.H1051Yc.3151C>TSubstitution - Missense
GGT1ENSG00000100031ENST00000400380p.R107Hc.320G>ASubstitution - Missense
GGT5ENSG00000099998ENST00000327365p.G383Dc.1148G>ASubstitution - Missense
GGT5ENSG00000099998ENST00000327365p.Q62*c.184C>TSubstitution - Nonsense
BCRENSG00000186716ENST00000305877p.S876Sc.2628C>TSubstitution - coding silent
FIGNENSG00000182263ENST00000333129p.R520Qc.1559G>ASubstitution - Missense
KCNH7ENSG00000184611ENST00000332142p.F398Lc.1194T>ASubstitution - Missense
SCN3AENSG00000153253ENST00000409101p.V143Vc.429A>TSubstitution - coding silent
COBLL1ENSG00000082438ENST00000342193p.V388Ac.1163T>CSubstitution - Missense
SCN1AENSG00000144285ENST00000303395p.T1250Mc.3749C>TSubstitution - Missense
SCN2AENSG00000136531ENST00000375427p.S1780Gc.5338A>GSubstitution - Missense
SCN2AENSG00000136531ENST00000375437p.S1780Gc.5338A>GSubstitution - Missense
SCN2AENSG00000136531ENST00000375427p.G1071Gc.3213A>CSubstitution - coding silent
SCN2AENSG00000136531ENST00000375437p.G1071Gc.3213A>CSubstitution - coding silent
NOSTRINENSG00000163072ENST00000444448p.A556Vc.1667C>TSubstitution - Missense
SCN1AENSG00000144285ENST00000303395p.L632Lc.1894C>TSubstitution - coding silent
SCN1AENSG00000144285ENST00000375405p.L632Lc.1894C>TSubstitution - coding silent
KLHL41ENSG00000239474ENST00000284669p.C122Cc.366C>TSubstitution - coding silent
FASTKD1ENSG00000138399ENST00000453153p.D133Nc.397G>ASubstitution - Missense
C8orf48ENSG00000164743ENST00000297324p.A247Sc.739G>TSubstitution - Missense
NDRG1ENSG00000104419ENST00000323851p.Y211Yc.633C>TSubstitution - coding silent
LRRC6ENSG00000129295ENST00000250173p.E133Dc.399G>TSubstitution - Missense
DENND3ENSG00000105339ENST00000262585p.?c.834+10C>TUnknown
COL22A1ENSG00000169436ENST00000303045p.P1344Pc.4032T>GSubstitution - coding silent
FAM135BENSG00000147724ENST00000395297p.L274Mc.820C>ASubstitution - Missense
FAM135BENSG00000147724ENST00000395297p.L274Mc.820C>ASubstitution - Missense
ZNF618ENSG00000157657ENST00000288466p.R275Wc.823C>TSubstitution - Missense
ZNF618ENSG00000157657ENST00000288466p.S657Nc.1970G>ASubstitution - Missense
RGS3ENSG00000138835ENST00000317613p.C84Cc.252C>TSubstitution - coding silent
NM_144488.2p.C92Cc.276C>TSubstitution - coding silent
ASTN2ENSG00000148219ENST00000361209p.R1231Wc.3691C>TSubstitution - Missense
ASTN2ENSG00000148219ENST00000288520p.R383Wc.1147C>TSubstitution - Missense
ASTN2ENSG00000148219ENST00000361477p.R334Wc.1000C>TSubstitution - Missense
TNCENSG00000041982ENST00000350763p.G490Dc.1469G>ASubstitution - Missense
MEGF9ENSG00000106780ENST00000426959p.?c.1054+5G>AUnknown
ENST00000373969p.A168Tc.502G>ASubstitution - Missense
ASTN2ENSG00000148219ENST00000313400p.R384Qc.1151G>ASubstitution - Missense
ASTN2ENSG00000148219ENST00000288520p.A157Vc.470C>TSubstitution - Missense
ASTN2ENSG00000148219ENST00000313400p.A1056Vc.3167C>TSubstitution - Missense
CNTRLENSG00000119397ENST00000373855p.?c.3459+4G>AUnknown
GAPVD1ENSG00000165219ENST00000394105p.I1483Ic.4449C>TSubstitution - coding silent
MVB12BENSG00000196814ENST00000361171p.G65Gc.195C>GSubstitution - coding silent
HSPA5ENSG00000044574ENST00000324460p.T29Tc.87G>TSubstitution - coding silent
GAPVD1ENSG00000165219ENST00000394105p.L1209Lc.3625C>TSubstitution - coding silent
GOLGA1ENSG00000136935ENST00000373555p.D689Nc.2065G>ASubstitution - Missense
PTGES2ENSG00000148334ENST00000338961p.P330Qc.989C>ASubstitution - Missense
PTGES2ENSG00000148334ENST00000338961p.E231delEc.691_693delGAGDeletion - In frame
FPGSENSG00000136877ENST00000373247p.A554Gc.1661C>GSubstitution - Missense
FAM102AENSG00000167106ENST00000373095p.I164Ic.492C>TSubstitution - coding silent
NAIF1ENSG00000171169ENST00000373078p.L229Vc.685C>GSubstitution - Missense
SH2D3CENSG00000095370ENST00000314830p.A179Vc.536C>TSubstitution - Missense
SH2D3CENSG00000095370ENST00000314830p.A179Vc.536C>TSubstitution - Missense
SH2D3CENSG00000095370ENST00000373276p.P58Sc.172C>TSubstitution - Missense
CDK9ENSG00000136807ENST00000373264p.N355Nc.1065C>TSubstitution - coding silent
TTC16ENSG00000167094ENST00000373289p.A102Vc.305C>TSubstitution - Missense
TTC16ENSG00000167094ENST00000373289p.R359Wc.1075C>TSubstitution - Missense
TOR2AENSG00000160404ENST00000373281p.V126Ic.376G>ASubstitution - Missense
ZBTB34ENSG00000177125ENST00000373452p.S101Gc.301A>GSubstitution - Missense
ZBTB34ENSG00000177125ENST00000373452p.G206Rc.616G>ASubstitution - Missense
GARNL3ENSG00000136895ENST00000373387p.H184Yc.550C>TSubstitution - Missense
SLC35E1ENSG00000127526ENST00000409648p.T335Nc.1004C>ASubstitution - Missense
SLC35E1ENSG00000127526ENST00000409648p.?c.1003-3C>AUnknown
ZNF526ENSG00000167625ENST00000301215p.Q539Hc.1617G>TSubstitution - Missense
FAM129CENSG00000167483ENST00000335393p.Q196*c.586C>TSubstitution - Nonsense
FAM129CENSG00000167483ENST00000335393p.S390Sc.1170G>ASubstitution - coding silent
PLVAPENSG00000130300ENST00000252590p.A292Vc.875C>TSubstitution - Missense
ENST00000314714p.P76Pc.228C>ASubstitution - coding silent
FSD1ENSG00000105255ENST00000221856p.P364Lc.1091C>TSubstitution - Missense
LIPEENSG00000079435ENST00000244289p.A424Tc.1270G>ASubstitution - Missense
MEGF8ENSG00000105429ENST00000334370p.R2240Hc.6719G>ASubstitution - Missense
PRR19ENSG00000188368ENST00000341747p.P45Lc.134C>TSubstitution - Missense
LYPD3ENSG00000124466ENST00000244333p.A314Vc.941C>TSubstitution - Missense
LYPD3ENSG00000124466ENST00000244333p.G17Gc.51C>TSubstitution - coding silent
ENST00000449000p.A6Tc.16G>ASubstitution - Missense
ACTR5ENSG00000101442ENST00000243903p.C208Yc.623G>ASubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.A391Tc.1171G>ASubstitution - Missense
SLC32A1ENSG00000101438ENST00000217420p.R183Wc.547C>TSubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.T440Tc.1320T>CSubstitution - coding silent
ZNF229ENSG00000167383ENST00000291187p.A189Vc.566C>TSubstitution - Missense
ENSG00000167674ENST00000301284p.S185Sc.555C>TSubstitution - coding silent
ZNF225ENSG00000256294ENST00000262894p.N332Yc.994A>TSubstitution - Missense
CDC25BENSG00000101224ENST00000245960p.L385Lc.1153C>TSubstitution - coding silent
MAFBENSG00000204103ENST00000373313p.P120Lc.359C>TSubstitution - Missense
CENPBENSG00000125817ENST00000379751p.A183Vc.548C>TSubstitution - Missense
SLC32A1ENSG00000101438ENST00000217420p.E412Kc.1234G>ASubstitution - Missense
SERINC3ENSG00000132824ENST00000255175p.C413Yc.1238G>ASubstitution - Missense
SERINC3ENSG00000132824ENST00000255175p.L349Lc.1047G>ASubstitution - coding silent
SLC12A5ENSG00000124140ENST00000243964p.Y446Hc.1336T>CSubstitution - Missense
CTSAENSG00000064601ENST00000372484p.L245Ic.733C>ASubstitution - Missense
SULF2ENSG00000196562ENST00000359930p.R69Cc.205C>TSubstitution - Missense
SULF2ENSG00000196562ENST00000359930p.R847Hc.2540G>ASubstitution - Missense
SULF2ENSG00000196562ENST00000359930p.L370Lc.1110G>ASubstitution - coding silent
ZEB2ENSG00000169554ENST00000303660p.P1054Sc.3160C>TSubstitution - Missense
ZEB2ENSG00000169554ENST00000303660p.?c.3068-5C>TUnknown
EPC2ENSG00000135999ENST00000258484p.A13Tc.37G>ASubstitution - Missense
EPC2ENSG00000135999ENST00000258484p.G577fs*14c.1726delGDeletion - Frameshift
NEBENSG00000183091ENST00000409198p.P5244Sc.15730C>TSubstitution - Missense
NEBENSG00000183091ENST00000427231p.?c.3987+8C>TUnknown
NEBENSG00000183091ENST00000397345p.?c.3987+8C>TUnknown
NEBENSG00000183091ENST00000409198p.?c.3987+8C>TUnknown
NEBENSG00000183091ENST00000427231p.K1306Kc.3918G>ASubstitution - coding silent
NEBENSG00000183091ENST00000397345p.K1306Kc.3918G>ASubstitution - coding silent
TANC1ENSG00000115183ENST00000263635p.Y663*c.1989C>GSubstitution - Nonsense
GPD2ENSG00000115159ENST00000310454p.?c.826+5G>AUnknown
GALNT5ENSG00000136542ENST00000259056p.S680Tc.2039G>CSubstitution - Missense
NBASENSG00000151779ENST00000281513p.Q2019Qc.6057G>ASubstitution - coding silent
SCFD2ENSG00000184178ENST00000401642p.A247Tc.739G>ASubstitution - Missense
PLA2R1ENSG00000153246ENST00000283243p.T168Ac.502A>GSubstitution - Missense
LY75ENSG00000054219ENST00000263636p.L1150Ic.3448C>ASubstitution - Missense
TANC1ENSG00000115183ENST00000263635p.L1340Pc.4019T>CSubstitution - Missense
PDE6BENSG00000133256ENST00000255622p.V429Lc.1285G>TSubstitution - Missense
LPHN3ENSG00000150471ENST00000514591p.T1395Ic.4184C>TSubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.?c.3662+5deltUnknown
PRPS1L1ENSG00000229937ENST00000506618p.S8Sc.24C>TSubstitution - coding silent
MEOX2ENSG00000106511ENST00000262041p.S185Nc.554G>ASubstitution - Missense
ENST00000400460p.S173Sc.519G>ASubstitution - coding silent
SCARF2ENSG00000244486ENST00000266214p.H401fs*4c.1201delCDeletion - Frameshift
KLHL22ENSG00000099910ENST00000328879p.L460Lc.1378C>TSubstitution - coding silent
ZNF70ENSG00000187792ENST00000341976p.S431fs*4c.1290delGDeletion - Frameshift
IGLL5ENSG00000254709ENST00000526893p.A159Vc.476C>TSubstitution - Missense
RAB36ENSG00000100228ENST00000263116p.M261Ic.783G>ASubstitution - Missense
YDJCENSG00000161179ENST00000292778p.L318Qc.953T>ASubstitution - Missense
PPIL2ENSG00000100023ENST00000335025p.C15Yc.44G>ASubstitution - Missense
SERPIND1ENSG00000099937ENST00000215727p.A134Vc.401C>TSubstitution - Missense
ENST00000316490p.T4021Ic.12062C>TSubstitution - Missense
MTSS1LENSG00000132613ENST00000338779p.D142Dc.426C>TSubstitution - coding silent
FUKENSG00000157353ENST00000378912p.?c.678+10C>TUnknown
PDPRENSG00000090857ENST00000288050p.N662Hc.1984A>CSubstitution - Missense
WDR90ENSG00000161996ENST00000293879p.H221Hc.663C>TSubstitution - coding silent
NOB1ENSG00000141101ENST00000268802p.G395Rc.1183G>ASubstitution - Missense
NOB1ENSG00000141101ENST00000268802p.?c.969+10G>TUnknown
TERF2ENSG00000132604ENST00000254942p.T392Tc.1176C>TSubstitution - coding silent
ENST00000316490p.V2378Vc.7134C>TSubstitution - coding silent
ENST00000316490_v65p.V2426Ac.7277T>CSubstitution - Missense
ZNF23ENSG00000167377ENST00000357254p.K502Nc.1506G>TSubstitution - Missense
CHST4ENSG00000140835ENST00000338482p.G351Cc.1051G>TSubstitution - Missense
HYDINENSG00000157423ENST00000321489p.?c.261+7G>AUnknown
HYDINENSG00000157423ENST00000393550p.?c.261+7G>AUnknown
CMTR2ENSG00000180917ENST00000338099p.H616Dc.1846C>GSubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.S794fs*30c.2379delCDeletion - Frameshift
HPENSG00000257017ENST00000355906p.V159Mc.475G>ASubstitution - Missense
IST1ENSG00000182149ENST00000329908p.P355Pc.1065C>TSubstitution - coding silent
ENST00000335106p.I1466Tc.4397T>CSubstitution - Missense
STUB1ENSG00000103266ENST00000219548p.Q104Qc.312G>ASubstitution - coding silent
MLST8ENSG00000167965ENST00000301724p.S304Sc.912C>TSubstitution - coding silent
NM_022372.2p.S304Sc.912C>TSubstitution - coding silent
NM_022372.2p.C316Yc.947G>ASubstitution - Missense
BRICD5ENSG00000182685ENST00000328540p.C114Cc.342C>TSubstitution - coding silent
POLR3EENSG00000058600ENST00000299853p.L65Lc.195G>ASubstitution - coding silent
POLR3EENSG00000058600ENST00000299853p.P631fs*15c.1889delCDeletion - Frameshift
CASKIN1ENSG00000167971ENST00000343516p.E410Gc.1229A>GSubstitution - Missense
TRAF7ENSG00000131653ENST00000326181p.Q467Qc.1401G>ASubstitution - coding silent
TRAF7ENSG00000131653ENST00000326181p.?c.1503+4C>TUnknown
TRAF7ENSG00000131653ENST00000326181p.?c.1746+5G>TUnknown
CASKIN1ENSG00000167971ENST00000343516p.L1422Lc.4266G>ASubstitution - coding silent
CASKIN1ENSG00000167971ENST00000343516p.L581Lc.1743G>ASubstitution - coding silent
ENST00000382453p.L410Lc.1230G>ASubstitution - coding silent
TRAF7ENSG00000131653ENST00000326181p.S17fs*111c.40delGDeletion - Frameshift
VWA3AENSG00000175267ENST00000389397p.D112Dc.336C>TSubstitution - coding silent
TRAF7ENSG00000131653ENST00000326181p.D465Nc.1393G>ASubstitution - Missense
PKD1ENSG00000008710ENST00000262304p.L1215Lc.3645C>TSubstitution - coding silent
PKD1ENSG00000008710ENST00000262304p.P1148Sc.3442C>TSubstitution - Missense
SLC5A11ENSG00000158865ENST00000347898p.L528Mc.1582C>ASubstitution - Missense
DAZAP1ENSG00000071626ENST00000233078p.A386Ac.1158C>TSubstitution - coding silent
APC2ENSG00000115266ENST00000233607p.G45Cc.133G>TSubstitution - Missense
LPHN1ENSG00000072071ENST00000340736p.Y281Yc.843C>TSubstitution - coding silent
IL27RAENSG00000104998ENST00000263379p.L422Fc.1264C>TSubstitution - Missense
DCAF15ENSG00000132017ENST00000254337p.G47Rc.139G>ASubstitution - Missense
ZSWIM4ENSG00000132003ENST00000254323p.L775fs*>216c.2320_2321insCInsertion - Frameshift
GAMTENSG00000130005ENST00000447102p.?c.328-4C>TUnknown
GAMTENSG00000130005ENST00000252288p.?c.328-4C>TUnknown
CCNFENSG00000162063ENST00000397066p.R572Wc.1714C>TSubstitution - Missense
BRD4ENSG00000141867ENST00000360016p.W750Lc.2249G>TSubstitution - Missense
NOTCH3ENSG00000074181ENST00000263388p.A223Tc.667G>ASubstitution - Missense
NOTCH3ENSG00000074181ENST00000263388p.A223Tc.667G>ASubstitution - Missense
ADAMTSL5ENSG00000185761ENST00000330475p.L378Mc.1132C>ASubstitution - Missense
APC2ENSG00000115266ENST00000233607p.D1257fs*323c.3771delCDeletion - Frameshift
CIB3ENSG00000141977ENST00000269878p.?c.346+4C>TUnknown
OR10H1ENSG00000186723ENST00000334920p.T247Ac.739A>GSubstitution - Missense
CYP4F2ENSG00000186115ENST00000221700p.L189Mc.565T>ASubstitution - Missense
RASAL3ENSG00000105122ENST00000343625p.?c.2161-9C>AUnknown
AKAP8LENSG00000011243ENST00000397410p.Y435Yc.1305C>TSubstitution - coding silent
AKAP8LENSG00000011243ENST00000397410p.Y435Yc.1305C>TSubstitution - coding silent
ENST00000319396p.K2071Kc.6213G>ASubstitution - coding silent
USHBP1ENSG00000130307ENST00000252597p.L520Lc.1560G>ASubstitution - coding silent
BABAM1ENSG00000105393ENST00000359435p.T175Mc.524C>TSubstitution - Missense
ENST00000300965p.T175Mc.524C>TSubstitution - Missense
NWD1ENSG00000188039ENST00000339803p.R248Hc.743G>ASubstitution - Missense
SERPINB6ENSG00000124570ENST00000380520p.P31Pc.93C>TSubstitution - coding silent
SERPINB6ENSG00000124570ENST00000380520p.G63Gc.189C>TSubstitution - coding silent
OR11A1ENSG00000204694ENST00000377149p.T292Tc.876C>ASubstitution - coding silent
MDC1ENSG00000137337ENST00000376406p.S1057Sc.3171C>TSubstitution - coding silent
MDC1ENSG00000137337ENST00000376406p.S1057Sc.3171C>TSubstitution - coding silent
DHX16ENSG00000204560ENST00000376442p.A740Tc.2218G>ASubstitution - Missense
DHX16ENSG00000204560ENST00000376442p.E244Kc.730G>ASubstitution - Missense
DHX16ENSG00000204560ENST00000376442p.E244Kc.730G>ASubstitution - Missense
NFKBIL1ENSG00000204498ENST00000376148p.N132Kc.396T>ASubstitution - Missense
MUC21ENSG00000204544ENST00000376296p.A162Vc.485C>TSubstitution - Missense
BAG6ENSG00000204463ENST00000375976p.Q645*c.1933C>TSubstitution - Nonsense
BAG6ENSG00000204463ENST00000404765p.Q681*c.2041C>TSubstitution - Nonsense
BAG6ENSG00000204463ENST00000375976p.L473fs*25c.1417delCDeletion - Frameshift
PRRC2AENSG00000204469ENST00000376033p.T541Ic.1622C>TSubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.G1356fs*18c.4063delGDeletion - Frameshift
LTBENSG00000227507ENST00000429299p.L178Lc.534G>ASubstitution - coding silent
LST1ENSG00000204482ENST00000438075p.?c.113-5T>AUnknown
ENST00000396121p.?c.20-5T>AUnknown
ENST00000396121p.R12Mc.35G>TSubstitution - Missense
NCR3ENSG00000204475ENST00000340027p.?c.389-1G>AUnknown
DDX39BENSG00000198563ENST00000453105p.?c.292-3C>TUnknown
DDX39BENSG00000198563ENST00000449757p.?c.502-3C>TUnknown
DUS4LENSG00000105865ENST00000265720p.G187Rc.559G>ASubstitution - Missense
ATXN7L1ENSG00000146776ENST00000419735p.H122Hc.366C>TSubstitution - coding silent
ENST00000342288p.P1836Pc.5508G>ASubstitution - coding silent
LAMB1ENSG00000091136ENST00000222399p.V1679Mc.5035G>ASubstitution - Missense
EPHA1ENSG00000146904ENST00000275815p.V653Mc.1957G>ASubstitution - Missense
EPHA1ENSG00000146904ENST00000275815p.V653Mc.1957G>ASubstitution - Missense
GSTK1ENSG00000197448ENST00000358406p.Y18fs*27c.47delCDeletion - Frameshift
PDIA4ENSG00000155660ENST00000286091p.?c.1522+9G>AUnknown
OR2A12ENSG00000221858ENST00000408949p.R269Qc.806G>ASubstitution - Missense
TAS2R41ENSG00000221855ENST00000408916p.P192Hc.575C>ASubstitution - Missense
GIMAP2ENSG00000106560ENST00000223293p.P104Qc.311C>ASubstitution - Missense
NOS3ENSG00000164867ENST00000297494p.A86Tc.256G>ASubstitution - Missense
NOS3ENSG00000164867ENST00000297494p.V667Mc.1999G>ASubstitution - Missense
MYO1GENSG00000136286ENST00000258787p.R336Kc.1007G>ASubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.?c.9454-10C>GUnknown
PKD1L1ENSG00000158683ENST00000289672p.R1571Ic.4712G>TSubstitution - Missense
TNS3ENSG00000136205ENST00000311160p.?c.325-4G>AUnknown
ADCY1ENSG00000164742ENST00000297323p.C371Yc.1112G>ASubstitution - Missense
CCM2ENSG00000136280ENST00000381112p.A170Vc.509C>TSubstitution - Missense
NACADENSG00000136274ENST00000490531p.S395Fc.1184C>TSubstitution - Missense
GRB10ENSG00000106070ENST00000398812p.P216Pc.648G>ASubstitution - coding silent
GRB10ENSG00000106070ENST00000403097p.P210Pc.630G>ASubstitution - coding silent
RNF216ENSG00000011275ENST00000389902p.R823Hc.2468G>ASubstitution - Missense
ACTBENSG00000075624ENST00000331789p.D24Dc.72C>TSubstitution - coding silent
SLC29A4ENSG00000164638ENST00000297195p.R66Cc.196C>TSubstitution - Missense
AP4M1ENSG00000221838ENST00000359593p.V250Ic.748G>ASubstitution - Missense
MBLAC1ENSG00000214309ENST00000398075p.S65Ic.194G>TSubstitution - Missense
C7orf43ENSG00000146826ENST00000316937p.V534Vc.1602G>ASubstitution - coding silent
C7orf43ENSG00000146826ENST00000316937p.P297Pc.891C>TSubstitution - coding silent
MCM7ENSG00000166508ENST00000303887p.R532Pc.1595G>CSubstitution - Missense
ZKSCAN1ENSG00000106261ENST00000324306p.A213Vc.638C>TSubstitution - Missense
PABPC1ENSG00000070756ENST00000318607p.I103Nc.308T>ASubstitution - Missense
YWHAZENSG00000164924ENST00000395957p.V176Vc.528G>ASubstitution - coding silent
PABPC1ENSG00000070756ENST00000318607p.A458Tc.1372G>ASubstitution - Missense
RGS22ENSG00000132554ENST00000360863p.G827Dc.2480G>ASubstitution - Missense
RP1L1ENSG00000183638ENST00000382483p.R671Hc.2012G>ASubstitution - Missense
RP1L1ENSG00000183638ENST00000382483p.A2103Vc.6308C>TSubstitution - Missense
KLF10ENSG00000155090ENST00000285407p.S123Lc.368C>TSubstitution - Missense
OXR1ENSG00000164830ENST00000312046p.T481Mc.1442C>TSubstitution - Missense
OXR1ENSG00000164830ENST00000312046p.Y624Cc.1871A>GSubstitution - Missense
PINX1ENSG00000254093ENST00000314787p.W77*c.230G>ASubstitution - Nonsense
ENST00000316490_v65p.T4069Ic.12206C>TSubstitution - Missense
SERTAD1ENSG00000197019ENST00000357949p.R236Rc.708C>TSubstitution - coding silent
MAP2K2ENSG00000126934ENST00000262948p.N225Nc.675C>TSubstitution - coding silent
CEACAM4ENSG00000105352ENST00000221954p.E99*c.295G>TSubstitution - Nonsense
ANKRD24ENSG00000089847ENST00000318934p.T535Mc.1604C>TSubstitution - Missense
ANKRD24ENSG00000089847ENST00000262970p.T625Mc.1874C>TSubstitution - Missense
ENST00000262969p.T401Mc.1202C>TSubstitution - Missense
SDK1ENSG00000146555ENST00000404826p.A103Dc.308C>ASubstitution - Missense
TBX20ENSG00000164532ENST00000408931p.Q360Qc.1080G>ASubstitution - coding silent
SDK1ENSG00000146555ENST00000404826p.L347Ic.1039C>ASubstitution - Missense
AEBP1ENSG00000106624ENST00000223357p.Q1015Hc.3045G>CSubstitution - Missense
RBMXENSG00000147274ENST00000320676p.D311Nc.931G>ASubstitution - Missense
SPANXCENSG00000198573ENST00000358993p.M42fs*1c.124delADeletion - Frameshift
MAGEC3ENSG00000165509ENST00000298296p.?c.1124-1G>TUnknown
AFF2ENSG00000155966ENST00000286437p.Y93Cc.278A>GSubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.Y452Cc.1355A>GSubstitution - Missense
PRRG3ENSG00000130032ENST00000538575p.G165fs*7c.488delGDeletion - Frameshift
GPR50ENSG00000102195ENST00000218316p.N228Nc.684C>TSubstitution - coding silent
NM_004224.1p.N228Nc.684C>TSubstitution - coding silent
VMA21ENSG00000160131ENST00000370361p.Q9fs*70c.23delCDeletion - Frameshift
PLXNB3ENSG00000198753ENST00000538966p.V1534Vc.4602G>ASubstitution - coding silent
PLXNB3ENSG00000198753ENST00000361971p.V1511Vc.4533G>ASubstitution - coding silent
PNCKENSG00000130822ENST00000447676p.R188Hc.563G>ASubstitution - Missense
PNCKENSG00000130822ENST00000393831p.R105Hc.314G>ASubstitution - Missense
SU_CaMK1bp.R105Hc.314G>ASubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.Q3250Kc.9748C>ASubstitution - Missense
KDM3BENSG00000120733ENST00000314358p.R591Wc.1771C>TSubstitution - Missense
PSD2ENSG00000146005ENST00000274710p.R534Hc.1601G>ASubstitution - Missense
MZB1ENSG00000170476ENST00000302125p.S140Sc.420C>TSubstitution - coding silent
MZB1ENSG00000170476ENST00000302125p.S140Sc.420C>TSubstitution - coding silent
MZB1ENSG00000170476ENST00000302125p.V86Vc.258C>ASubstitution - coding silent
DNAJC18ENSG00000170464ENST00000302060p.A157Tc.469G>ASubstitution - Missense
TMEM173ENSG00000184584ENST00000330794p.A313fs*8c.934_935insTInsertion - Frameshift
SLC4A9ENSG00000113073ENST00000230993p.R617Hc.1850G>ASubstitution - Missense
PCDHA13ENSG00000239389ENST00000289272p.A691Tc.2071G>ASubstitution - Missense
PCDHAC1ENSG00000248383ENST00000253807p.L707Lc.2121G>ASubstitution - coding silent
PCDHB6ENSG00000113211ENST00000231136p.T42Mc.125C>TSubstitution - Missense
PCDHB3ENSG00000113205ENST00000231130p.L373Ic.1117C>ASubstitution - Missense
PCDHB3ENSG00000113205ENST00000231130p.G648Gc.1944C>TSubstitution - coding silent
PCDHB2ENSG00000112852ENST00000194155p.G24Gc.72C>TSubstitution - coding silent
PCDHB2ENSG00000112852ENST00000194155p.H471Hc.1413C>TSubstitution - coding silent
DCTN4ENSG00000132912ENST00000447998p.Q409Qc.1227G>ASubstitution - coding silent
PCDHGA2ENSG00000081853ENST00000394576p.D268Gc.803A>GSubstitution - Missense
PCDHGA1ENSG00000204956ENST00000378105p.L7Qc.20T>ASubstitution - Missense
PCDHGA1ENSG00000204956ENST00000517417p.L7Qc.20T>ASubstitution - Missense
PCDHB15ENSG00000113248ENST00000231173p.T457Tc.1371C>ASubstitution - coding silent
ENST00000274705p.N365Dc.1093A>GSubstitution - Missense
PCDHB11ENSG00000197479ENST00000354757p.L458Lc.1372C>TSubstitution - coding silent
GALNT10ENSG00000164574ENST00000297107p.L446Lc.1338G>ASubstitution - coding silent
GRIA1ENSG00000155511ENST00000285900p.A536Vc.1607C>TSubstitution - Missense
ENST00000544403p.A536Vc.1607C>TSubstitution - Missense
ANXA6ENSG00000197043ENST00000356496p.K314*c.940A>TSubstitution - Nonsense
ITKENSG00000113263ENST00000422843p.L443Lc.1329G>ASubstitution - coding silent
FAM71BENSG00000170613ENST00000302938p.R148Hc.443G>ASubstitution - Missense
GEMIN5ENSG00000082516ENST00000285873p.N1426fs*9c.4277delADeletion - Frameshift
CCNJLENSG00000135083ENST00000393977p.Y247Hc.739T>CSubstitution - Missense
CCNJLENSG00000135083ENST00000393977p.K210Nc.630G>CSubstitution - Missense
CCNJLENSG00000135083ENST00000393977p.S159Nc.476G>ASubstitution - Missense
C1QTNF2ENSG00000145861ENST00000393975p.T167Ic.500C>TSubstitution - Missense
ADRA1BENSG00000170214ENST00000306675p.R115Qc.344G>ASubstitution - Missense
ENST00000307063_v68p.N375fs*24c.1124delADeletion - Frameshift
PWWP2AENSG00000170234ENST00000456329p.N375fs*24c.1124delADeletion - Frameshift
GABRB2ENSG00000145864ENST00000274547p.Y362fs*45c.1084delTDeletion - Frameshift
GABRB2ENSG00000145864ENST00000274547p.?c.542-3C>TUnknown
TENM2ENSG00000145934ENST00000519204p.N1378Nc.4134C>TSubstitution - coding silent
CCDC39ENSG00000145075ENST00000442201p.R570Cc.1708C>TSubstitution - Missense
CCDC39ENSG00000145075ENST00000273654p.R654Cc.1960C>TSubstitution - Missense
MFN1ENSG00000171109ENST00000263969p.R73Qc.218G>ASubstitution - Missense
USP13ENSG00000058056ENST00000263966p.T819Ic.2456C>TSubstitution - Missense
PCDHGB1ENSG00000254221ENST00000523390p.P768Lc.2303C>TSubstitution - Missense
PCDHGB1ENSG00000254221ENST00000523390p.P768Lc.2303C>TSubstitution - Missense
PCDHGC5ENSG00000240764ENST00000252087p.L172Lc.516A>TSubstitution - coding silent
ARHGAP26ENSG00000145819ENST00000274498p.D439Gc.1316A>GSubstitution - Missense
PCDH1ENSG00000156453ENST00000287008p.N502Nc.1506C>TSubstitution - coding silent
FBXO38ENSG00000145868ENST00000340253p.K963Nc.2889G>CSubstitution - Missense
HTR4ENSG00000164270ENST00000314512p.F201Fc.603C>TSubstitution - coding silent
NTNG2ENSG00000196358ENST00000372179p.S381Sc.1143C>TSubstitution - coding silent
POMT1ENSG00000130714ENST00000372228p.R635Rc.1905C>TSubstitution - coding silent
POMT1ENSG00000130714ENST00000372228p.L716Lc.2146C>TSubstitution - coding silent
ENST00000421549p.N1290Sc.3869A>GSubstitution - Missense
PDE6AENSG00000132915ENST00000255266p.Y214Fc.641A>TSubstitution - Missense
ENST00000421549p.Q504Qc.1512G>ASubstitution - coding silent
TMEM8CENSG00000187616ENST00000339996p.A86Vc.257C>TSubstitution - Missense
REXO4ENSG00000148300ENST00000371942p.V57Vc.171G>ASubstitution - coding silent
ADAMTS13ENSG00000160323ENST00000371929p.R421fs*76c.1255delGDeletion - Frameshift
SURF6ENSG00000148296ENST00000372022p.G130Gc.390C>GSubstitution - coding silent
SURF4ENSG00000148248ENST00000371989p.I186Ic.558C>TSubstitution - coding silent
CELENSG00000170835ENST00000372080p.A459Vc.1376C>TSubstitution - Missense
CELENSG00000170835ENST00000372080p.T516Mc.1547C>TSubstitution - Missense
ENST00000601113p.A196Tc.586G>ASubstitution - Missense
SEC16AENSG00000148396ENST00000313050p.E2044Qc.6130G>CSubstitution - Missense
NACC2ENSG00000148411ENST00000371753p.S326Tc.977G>CSubstitution - Missense
RORBENSG00000198963ENST00000376896p.E358Dc.1074G>TSubstitution - Missense
MAMDC4ENSG00000177943ENST00000317446p.Q245Hc.735G>TSubstitution - Missense
MAMDC4ENSG00000177943ENST00000445819p.Q245Hc.735G>TSubstitution - Missense
EDF1ENSG00000107223ENST00000371648p.R33Kc.98G>ASubstitution - Missense
RABL6ENSG00000196642ENST00000371663p.A37Sc.109G>TSubstitution - Missense
RABL6ENSG00000196642ENST00000311502p.A115Sc.343G>TSubstitution - Missense
C9orf172ENSG00000232434ENST00000436881p.L770Lc.2310G>ASubstitution - coding silent
SPATA31E1ENSG00000177992ENST00000325643p.E1109Dc.3327G>TSubstitution - Missense
SPATA31E1ENSG00000177992ENST00000325643p.A1141Tc.3421G>ASubstitution - Missense
DAPK1ENSG00000196730ENST00000358077p.S635Sc.1905C>TSubstitution - coding silent
ECH1ENSG00000104823ENST00000221418p.?c.659+3G>AUnknown
MAP4K1ENSG00000104814ENST00000396857p.C607Cc.1821C>TSubstitution - coding silent
EIF3KENSG00000178982ENST00000248342p.Q186*c.556C>TSubstitution - Nonsense
RYR1ENSG00000196218ENST00000359596p.R2224Hc.6671G>ASubstitution - Missense
RYR1ENSG00000196218ENST00000359596p.V984Mc.2950G>ASubstitution - Missense
ECM2ENSG00000106823ENST00000444490p.L542Fc.1624C>TSubstitution - Missense
PLEKHG2ENSG00000090924ENST00000409794p.H1247Hc.3741C>TSubstitution - coding silent
NM_022835.1p.H1205Hc.3615C>TSubstitution - coding silent
PLEKHG2ENSG00000090924ENST00000458508p.H1188Hc.3564C>TSubstitution - coding silent
PLEKHG2ENSG00000090924ENST00000409794p.P1312Pc.3936C>ASubstitution - coding silent
NM_022835.1p.P1270Pc.3810C>ASubstitution - coding silent
SUPT5HENSG00000196235ENST00000359191p.D90Nc.268G>ASubstitution - Missense
PAF1ENSG00000006712ENST00000221265p.R26Sc.78G>TSubstitution - Missense
MED29ENSG00000063322ENST00000315588p.V17Vc.51C>ASubstitution - coding silent
ENST00000248668_v71p.V553Ic.1657G>ASubstitution - Missense
ENST00000248668_v71p.V543Vc.1629C>TSubstitution - coding silent
LRFN1ENSG00000128011ENST00000248668p.V495Vc.1485C>TSubstitution - coding silent
IFNL3ENSG00000197110ENST00000413851p.?c.492+7G>AUnknown
EEF2ENSG00000167658ENST00000309311p.D611Dc.1833C>TSubstitution - coding silent
EEF2ENSG00000167658ENST00000309311p.G548Gc.1644C>TSubstitution - coding silent
SARS2ENSG00000104835ENST00000221431p.L138Lc.412C>TSubstitution - coding silent
PRXENSG00000105227ENST00000324001p.V564Mc.1690G>ASubstitution - Missense
ZBTB7AENSG00000178951ENST00000322357p.S17Tc.50G>CSubstitution - Missense
PSMC4ENSG00000013275ENST00000157812p.R114Cc.340C>TSubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.G4823Gc.14469C>TSubstitution - coding silent
ANKRD24ENSG00000089847ENST00000262970p.?c.914+9C>AUnknown
TGFB1ENSG00000105329ENST00000221930p.R141Qc.422G>ASubstitution - Missense
KLHL10ENSG00000161594ENST00000293303p.L231Lc.693G>ASubstitution - coding silent
HAP1ENSG00000173805ENST00000347901p.A34Tc.100G>ASubstitution - Missense
HAP1ENSG00000173805ENST00000347901p.S28Sc.84G>CSubstitution - coding silent
KRT15ENSG00000171346ENST00000393976p.R176Qc.527G>ASubstitution - Missense
BECN1ENSG00000126581ENST00000361523p.Y394Yc.1182C>TSubstitution - coding silent
WNK4ENSG00000126562ENST00000246914p.R301Qc.902G>ASubstitution - Missense
WNK4ENSG00000126562ENST00000246914p.R301Qc.902G>ASubstitution - Missense
COASYENSG00000068120ENST00000393818p.Y136Yc.408C>TSubstitution - coding silent
COASYENSG00000068120ENST00000393818p.V180Mc.538G>ASubstitution - Missense
COASYENSG00000068120ENST00000393818p.L535Lc.1605G>ASubstitution - coding silent
FAM134CENSG00000141699ENST00000309428p.A341Vc.1022C>TSubstitution - Missense
PTRFENSG00000177469ENST00000357037p.I8Lc.22A>CSubstitution - Missense
ENST00000225928p.?c.266-10G>AUnknown
STAT3ENSG00000168610ENST00000264657p.R729Hc.2186G>ASubstitution - Missense
ENST00000293443_v68p.S283fs*79c.844_845insTInsertion - Frameshift
FAM171A2ENSG00000161682ENST00000293443p.S99fs*79c.292_293insTInsertion - Frameshift
C17orf53ENSG00000125319ENST00000319977p.A247Vc.740C>TSubstitution - Missense
PTGES3L-AARSD1ENSG00000108825ENST00000421990p.A101Ac.303C>ASubstitution - coding silent
IFI35ENSG00000068079ENST00000438323p.Q277Qc.831G>ASubstitution - coding silent
CACNA1GENSG00000006283ENST00000359106p.R413Hc.1238G>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000354983p.R413Hc.1238G>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000416767p.R413Hc.1238G>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.R413Hc.1238G>ASubstitution - Missense
NM_133373.2p.R237Hc.710G>ASubstitution - Missense
NMT1ENSG00000136448ENST00000258960p.K63Mc.188A>TSubstitution - Missense
NMT1ENSG00000136448ENST00000258960p.A106Tc.316G>ASubstitution - Missense
ENST00000335500p.P1438Tc.4312C>ASubstitution - Missense
SPAG9ENSG00000008294ENST00000262013p.A833Tc.2497G>ASubstitution - Missense
SPAG9ENSG00000008294ENST00000357122p.A819Tc.2455G>ASubstitution - Missense
CAMTA2ENSG00000108509ENST00000348066p.W91*c.272G>ASubstitution - Nonsense
INCA1ENSG00000196388ENST00000396829p.L196fs*>41c.586delCDeletion - Frameshift
INCA1ENSG00000196388ENST00000355025p.L181fs*>41c.541delCDeletion - Frameshift
NM_005082.3p.D303Nc.907G>ASubstitution - Missense
MSI2ENSG00000153944ENST00000284073p.A255Vc.764C>TSubstitution - Missense
CUEDC1ENSG00000180891ENST00000577830p.E224Dc.672G>TSubstitution - Missense
DGKEENSG00000153933ENST00000284061p.V427fs*3c.1273delADeletion - Frameshift
TRIM37ENSG00000108395ENST00000262294p.?c.1753+7A>TUnknown
TEX14ENSG00000121101ENST00000349033p.E1111Kc.3331G>ASubstitution - Missense
C17orf47ENSG00000181013ENST00000321691p.Q374Qc.1122G>ASubstitution - coding silent
RNF43ENSG00000108375ENST00000407977p.Q723Kc.2167C>ASubstitution - Missense
TMEM147ENSG00000105677ENST00000222284p.?c.77+8C>TUnknown
TBXA2RENSG00000006638ENST00000411851p.L79Lc.235C>TSubstitution - coding silent
ZNF30ENSG00000168661ENST00000439785p.R250Wc.748C>TSubstitution - Missense
NFKBIDENSG00000167604ENST00000352614p.R214Cc.640C>TSubstitution - Missense
ARHGAP33ENSG00000004777ENST00000314737p.?c.189+7G>AUnknown
ENST00000221905p.?c.243+7G>AUnknown
ENSG00000272333ENST00000222270p.R1781Qc.5342G>ASubstitution - Missense
ENSG00000272333ENST00000222270p.R2059Hc.6176G>ASubstitution - Missense
CACTINENSG00000105298ENST00000429344p.E325Ec.975G>ASubstitution - coding silent
CACTINENSG00000105298ENST00000221899p.E257Ec.771G>ASubstitution - coding silent
TJP3ENSG00000105289ENST00000262968p.S356Nc.1067G>ASubstitution - Missense
PIP5K1CENSG00000186111ENST00000335312p.L320Lc.960G>ASubstitution - coding silent
WDR62ENSG00000075702ENST00000270301p.G972Gc.2916C>TSubstitution - coding silent
GGNENSG00000179168ENST00000334928p.A286Tc.856G>ASubstitution - Missense
FAM98CENSG00000130244ENST00000252530p.L198Lc.594G>ASubstitution - coding silent
WDR87ENSG00000171804ENST00000447313p.R2841Qc.8522G>ASubstitution - Missense
ZBBXENSG00000169064ENST00000455345p.S226Nc.677G>ASubstitution - Missense
BCHEENSG00000114200ENST00000264381p.T150Tc.450A>GSubstitution - coding silent
SIENSG00000090402ENST00000264382p.V1239Lc.3715G>CSubstitution - Missense
SIENSG00000090402ENST00000264382p.S235Rc.705T>ASubstitution - Missense
CLDN11ENSG00000013297ENST00000064724p.V170Mc.508G>ASubstitution - Missense
FNDC3BENSG00000075420ENST00000336824p.K644Kc.1932A>GSubstitution - coding silent
TNIKENSG00000154310ENST00000436636p.R1085Wc.3253C>TSubstitution - Missense
TNIKENSG00000154310ENST00000436636p.R1085Wc.3253C>TSubstitution - Missense
PTBP3ENSG00000119314ENST00000374255p.G83Gc.249C>TSubstitution - coding silent
HDDC2ENSG00000111906ENST00000398153p.Q165*c.493C>TSubstitution - Nonsense
SMPDL3AENSG00000172594ENST00000368440p.I432Vc.1294A>GSubstitution - Missense
L3MBTL3ENSG00000198945ENST00000368136p.R210Wc.628C>TSubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.Y1455Cc.4364A>GSubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.R1791Kc.5372G>ASubstitution - Missense
PTPRKENSG00000152894ENST00000368226p.I1231Vc.3691A>GSubstitution - Missense
ENST00000432934p.V63Vc.189G>ASubstitution - coding silent
PHACTR1ENSG00000112137ENST00000379348p.V63Vc.189G>ASubstitution - coding silent
GFOD1ENSG00000145990ENST00000379287p.L134Lc.400C>TSubstitution - coding silent
TAAR5ENSG00000135569ENST00000258034p.S239Cc.715A>TSubstitution - Missense
CTAGE9ENSG00000236761ENST00000314099p.L59fs*27c.176delTDeletion - Frameshift
BCLAF1ENSG00000029363ENST00000531224p.Q184Qc.552G>ASubstitution - coding silent
COL12A1ENSG00000111799ENST00000322507p.P2858Pc.8574G>ASubstitution - coding silent
HBS1LENSG00000112339ENST00000367837p.P197Qc.590C>ASubstitution - Missense
MYBENSG00000118513ENST00000367814p.S572Sc.1716C>TSubstitution - coding silent
SGK1ENSG00000118515ENST00000367858p.?c.1324-7T>CUnknown
SGK1ENSG00000118515ENST00000413996p.?c.1081-7T>CUnknown
SGK1ENSG00000118515ENST00000367857p.?c.1009-7T>CUnknown
SGK1ENSG00000118515ENST00000367858p.I137Fc.409A>TSubstitution - Missense
SGK1ENSG00000118515ENST00000528577p.I70Fc.208A>TSubstitution - Missense
SGK1ENSG00000118515ENST00000367857p.I32Fc.94A>TSubstitution - Missense
SGK1ENSG00000118515ENST00000367858p.W115*c.345G>ASubstitution - Nonsense
PHIPENSG00000146247ENST00000275034p.?c.189+10T>CUnknown
TBX18ENSG00000112837ENST00000369663p.S262Sc.786T>CSubstitution - coding silent
PGM3ENSG00000013375ENST00000513973p.V503Vc.1509C>TSubstitution - coding silent
RWDD2AENSG00000013392ENST00000369724p.T38Mc.113C>TSubstitution - Missense
ENST00000237177p.T509Ic.1526C>TSubstitution - Missense
SRSF12ENSG00000154548ENST00000452027p.P7Pc.21C>TSubstitution - coding silent
UBE2J1ENSG00000198833ENST00000435041p.R83*c.247C>TSubstitution - Nonsense
RRAGDENSG00000025039ENST00000369415p.L247Lc.741G>ASubstitution - coding silent
ZNF292ENSG00000188994ENST00000369577p.T1429Ac.4285A>GSubstitution - Missense
SYNCRIPENSG00000135316ENST00000355238p.N285fs*22c.854delADeletion - Frameshift
MMS22LENSG00000146263ENST00000275053p.Y1173Cc.3518A>GSubstitution - Missense
CRLF3ENSG00000176390ENST00000324238p.V183Ic.547G>ASubstitution - Missense
MYO1DENSG00000176658ENST00000318217p.R665Wc.1993C>TSubstitution - Missense
MYO1DENSG00000176658ENST00000318217p.A346Vc.1037C>TSubstitution - Missense
ZNF207ENSG00000010244ENST00000321233p.P244Sc.730C>TSubstitution - Missense
OR1G1ENSG00000183024ENST00000328890p.S267Sc.801G>ASubstitution - coding silent
MYO19ENSG00000141140ENST00000431794p.A68Tc.202G>ASubstitution - Missense
MYO19ENSG00000141140ENST00000431794p.A68Tc.202G>ASubstitution - Missense
TRPV3ENSG00000167723ENST00000576742p.T305Tc.915C>TSubstitution - coding silent
TRPV3ENSG00000167723ENST00000576742p.A248Ac.744C>ASubstitution - coding silent
TRPV1ENSG00000196689ENST00000174621p.?c.2225+6G>AUnknown
AP2B1ENSG00000006125ENST00000312678p.S646Sc.1938C>ASubstitution - coding silent
NM_139285.1p.E124fs*107c.368_369insAInsertion - Frameshift
NM_139285.1p.E124fs*107c.365_366insAInsertion - Frameshift
SLFN11ENSG00000172716ENST00000394566p.R48Wc.142C>TSubstitution - Missense
SLFN13ENSG00000154760ENST00000285013p.A66Ac.198C>ASubstitution - coding silent
UNC45BENSG00000141161ENST00000394570p.I766Ic.2298C>TSubstitution - coding silent
SLFN5ENSG00000166750ENST00000299977p.A135Vc.404C>TSubstitution - Missense
RAD51DENSG00000185379ENST00000345365p.G283Gc.849A>CSubstitution - coding silent
FNDC8ENSG00000073598ENST00000158009p.E216Gc.647A>GSubstitution - Missense
UNC45BENSG00000141161ENST00000394570p.E168Dc.504G>TSubstitution - Missense
TMEM132EENSG00000181291ENST00000321639p.L824Lc.2472G>ASubstitution - coding silent
SLC3A1ENSG00000138079ENST00000260649p.A560Tc.1678G>ASubstitution - Missense
LRPPRCENSG00000138095ENST00000260665p.E674Kc.2020G>ASubstitution - Missense
SIX2ENSG00000170577ENST00000303077p.P258Pc.774G>ASubstitution - coding silent
PTRFENSG00000177469ENST00000357037p.S36Sc.108G>CSubstitution - coding silent
KAT2AENSG00000108773ENST00000225916p.D75fs*7c.223delGDeletion - Frameshift
KCNH4ENSG00000089558ENST00000264661p.?c.77-7C>TUnknown
KAT2AENSG00000108773ENST00000225916p.R785Hc.2354G>ASubstitution - Missense
ACLYENSG00000131473ENST00000352035p.?c.536+1G>CUnknown
ACLYENSG00000131473ENST00000352035p.C20Yc.59G>ASubstitution - Missense
CYTH4ENSG00000100055ENST00000248901p.D161Ec.483C>ASubstitution - Missense
MYH9ENSG00000100345ENST00000216181p.R240Hc.719G>ASubstitution - Missense
FOXRED2ENSG00000100350ENST00000397223p.Q214*c.640C>TSubstitution - Nonsense
GTPBP1ENSG00000100226ENST00000216044p.?c.304+10G>CUnknown
GCATENSG00000100116ENST00000248924p.?c.576+8G>AUnknown
TRIOBPENSG00000100106ENST00000406386p.A1676Tc.5026G>ASubstitution - Missense
CACNA1IENSG00000100346ENST00000404898p.V1275Mc.3823G>ASubstitution - Missense
CACNA1IENSG00000100346ENST00000402142p.L1609Mc.4825C>ASubstitution - Missense
CACNA1IENSG00000100346ENST00000404898p.L1574Mc.4720C>ASubstitution - Missense
CACNA1IENSG00000100346ENST00000404898p.?c.4829-3C>TUnknown
TEFENSG00000167074ENST00000266304p.V245Ac.734T>CSubstitution - Missense
TOB2ENSG00000183864ENST00000327492p.Q331*c.991C>TSubstitution - Nonsense
EP300ENSG00000100393ENST00000263253p.?c.4173-1G>AUnknown
EP300ENSG00000100393ENST00000263253p.L437Fc.1309C>TSubstitution - Missense
XPNPEP3ENSG00000196236ENST00000357137p.V99Vc.297G>ASubstitution - coding silent
MKL1ENSG00000196588ENST00000355630p.Q543Kc.1627C>ASubstitution - Missense
BVESENSG00000112276ENST00000314641p.Y128Yc.384C>TSubstitution - coding silent
ARMC2ENSG00000118690ENST00000392644p.E695Ec.2085G>ASubstitution - coding silent
SESN1ENSG00000080546ENST00000436639p.?c.973-1G>TUnknown
CD164ENSG00000135535ENST00000310786p.?c.332-1G>AUnknown
FOXO3ENSG00000118689ENST00000343882p.R248fs*111c.737delCDeletion - Frameshift
LACE1ENSG00000135537ENST00000368977p.P58Sc.172C>TSubstitution - Missense
SOBPENSG00000112320ENST00000317357p.G799fs*29c.2391delGDeletion - Frameshift
REV3LENSG00000009413ENST00000358835p.V468Vc.1404G>ASubstitution - coding silent
REV3LENSG00000009413ENST00000358835p.R248Cc.742C>TSubstitution - Missense
NM_002912.1p.R170Cc.508C>TSubstitution - Missense
REV3LENSG00000009413ENST00000358835p.G171Gc.513C>TSubstitution - coding silent
NM_002912.1p.G93Gc.279C>TSubstitution - coding silent
MICAL1ENSG00000135596ENST00000358807p.R318Wc.952C>TSubstitution - Missense
ENST00000321784p.P226Pc.678C>TSubstitution - coding silent
RSPH4AENSG00000111834ENST00000229554p.V166Mc.496G>ASubstitution - Missense
TRAPPC3LENSG00000173626ENST00000368602p.R123*c.367C>TSubstitution - Nonsense
HS3ST5ENSG00000249853ENST00000312719p.G135Dc.404G>ASubstitution - Missense
FAM229BENSG00000203778ENST00000368656p.F3Sc.8T>CSubstitution - Missense
LAMA4ENSG00000112769ENST00000389463p.?c.3675+1delgUnknown
LAMA4ENSG00000112769ENST00000389463p.E408Kc.1222G>ASubstitution - Missense
LAMA4ENSG00000112769ENST00000368638p.S87Sc.261G>TSubstitution - coding silent
COL21A1ENSG00000124749ENST00000244728p.P908Pc.2724T>ASubstitution - coding silent
COL21A1ENSG00000124749ENST00000244728p.P908Pc.2724T>ASubstitution - coding silent
ROS1ENSG00000047936ENST00000368507p.V157Vc.471G>ASubstitution - coding silent
ROS1ENSG00000047936ENST00000368507p.N1100Sc.3299A>GSubstitution - Missense
RFX6ENSG00000185002ENST00000332958p.H77Hc.231C>TSubstitution - coding silent
PHF3ENSG00000118482ENST00000262043p.T1253Ic.3758C>TSubstitution - Missense
NM_000947.2p.Q27Ec.79C>GSubstitution - Missense
FAM135AENSG00000082269ENST00000418814p.E97Ec.291A>GSubstitution - coding silent
RREB1ENSG00000124782ENST00000379933p.L768Lc.2304G>ASubstitution - coding silent
RREB1ENSG00000124782ENST00000379933p.R773Cc.2317C>TSubstitution - Missense
RREB1ENSG00000124782ENST00000379933p.G1105Rc.3313G>ASubstitution - Missense
RREB1ENSG00000124782ENST00000379938p.A158Tc.472G>ASubstitution - Missense
DSPENSG00000096696ENST00000379802p.Q1286*c.3856C>TSubstitution - Nonsense
TRPS1ENSG00000104447ENST00000395715p.E740Kc.2218G>ASubstitution - Missense
BLKENSG00000136573ENST00000259089p.P457Sc.1369C>TSubstitution - Missense
ENST00000321602_v68p.Q63Ec.187C>GSubstitution - Missense
ATAD2ENSG00000156802ENST00000287394p.R1005Lc.3014G>TSubstitution - Missense
FAM83AENSG00000147689ENST00000518448p.G345Sc.1033G>ASubstitution - Missense
COL14A1ENSG00000187955ENST00000297848p.P1588Pc.4764G>ASubstitution - coding silent
SNTB1ENSG00000172164ENST00000395601p.S140Sc.420C>TSubstitution - coding silent
DMRT2ENSG00000173253ENST00000259622p.Y193Hc.577T>CSubstitution - Missense
DMRT2ENSG00000173253ENST00000302441p.Y193Hc.577T>CSubstitution - Missense
RNF20ENSG00000155827ENST00000389120p.F156Vc.466T>GSubstitution - Missense
ENSG00000148123ENST00000374874p.D52Ec.156C>ASubstitution - Missense
ENST00000409686p.A367Tc.1099G>ASubstitution - Missense
EPB41L4BENSG00000095203ENST00000374566p.H277Hc.831C>TSubstitution - coding silent
EPB41L4BENSG00000095203ENST00000374557p.H277Hc.831C>TSubstitution - coding silent
LRBAENSG00000198589ENST00000357115p.?c.8502-10C>TUnknown
FHDC1ENSG00000137460ENST00000260008p.G816Vc.2447G>TSubstitution - Missense
STOX2ENSG00000173320ENST00000308497p.G688fs*50c.2059delGDeletion - Frameshift
TDO2ENSG00000151790ENST00000536354p.Q305Lc.914A>TSubstitution - Missense
TDO2ENSG00000151790ENST00000536354p.Q305Hc.915G>CSubstitution - Missense
BST1ENSG00000109743ENST00000265016p.?c.189-5C>TUnknown
GRIA2ENSG00000120251ENST00000264426p.K3fs*16c.5delADeletion - Frameshift
WHSC1ENSG00000109685ENST00000503128p.K6Kc.18G>ASubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.V1056Mc.3166G>ASubstitution - Missense
SORBS2ENSG00000154556ENST00000284776p.E1037*c.3109G>TSubstitution - Nonsense
SORBS2ENSG00000154556ENST00000437304p.E761*c.2281G>TSubstitution - Nonsense
SH3BP2ENSG00000087266ENST00000356331p.S475Sc.1425C>TSubstitution - coding silent
TNIP2ENSG00000168884ENST00000315423p.H252Nc.754C>ASubstitution - Missense
CCKARENSG00000163394ENST00000295589p.T74Mc.221C>TSubstitution - Missense
SLC6A19ENSG00000174358ENST00000304460p.Q94Lc.281A>TSubstitution - Missense
ACSL6ENSG00000164398ENST00000296869p.?c.653-4G>AUnknown
CSF2ENSG00000164400ENST00000296871p.R75Hc.224G>ASubstitution - Missense
PITX1ENSG00000069011ENST00000265340p.S252Lc.755C>TSubstitution - Missense
AFF4ENSG00000072364ENST00000265343p.R3Hc.8G>ASubstitution - Missense
HSPA4ENSG00000170606ENST00000304858p.V524Mc.1570G>ASubstitution - Missense
RAD50ENSG00000113522ENST00000265335p.D946Nc.2836G>ASubstitution - Missense
ATG10ENSG00000152348ENST00000282185p.V196Ic.586G>ASubstitution - Missense
RPS23ENSG00000186468ENST00000296674p.K53Nc.159G>CSubstitution - Missense
KLHL3ENSG00000146021ENST00000309755p.V436Mc.1306G>ASubstitution - Missense
NEUROG1ENSG00000181965ENST00000314744p.S121Sc.363G>ASubstitution - coding silent
POLR3GENSG00000113356ENST00000399107p.G211Dc.632G>ASubstitution - Missense
MEF2CENSG00000081189ENST00000424173p.?c.935-2A>GUnknown
MEF2CENSG00000081189ENST00000504921p.?c.965-2A>GUnknown
RASA1ENSG00000145715ENST00000274376p.T392Ac.1174A>GSubstitution - Missense
RASA1ENSG00000145715ENST00000456692p.T215Ac.643A>GSubstitution - Missense
ELL2ENSG00000118985ENST00000237853p.K194Kc.582G>ASubstitution - coding silent
CASTENSG00000153113ENST00000309190p.K684Nc.2052A>TSubstitution - Missense
SHROOM2ENSG00000146950ENST00000380913p.E287Kc.859G>ASubstitution - Missense
DSELENSG00000171451ENST00000310045p.W671*c.2013G>ASubstitution - Nonsense
ENST00000217537p.R211Wc.631C>TSubstitution - Missense
ZNF407ENSG00000215421ENST00000299687p.G1692Gc.5076C>TSubstitution - coding silent
LAMA1ENSG00000101680ENST00000389658p.A860Vc.2579C>TSubstitution - Missense
GRIN3BENSG00000116032ENST00000234389p.L622Lc.1866G>ASubstitution - coding silent
GRIN3BENSG00000116032ENST00000234389p.?c.2199-4G>AUnknown
GRIN3BENSG00000116032ENST00000234389p.S781Sc.2343G>ASubstitution - coding silent
ANKRD12ENSG00000101745ENST00000262126p.A1384Vc.4151C>TSubstitution - Missense
SALL3ENSG00000256463ENST00000537592p.L1080Lc.3238C>TSubstitution - coding silent
ATP9BENSG00000166377ENST00000307671p.R461Hc.1382G>ASubstitution - Missense
APOL3ENSG00000128284ENST00000349314p.L363Lc.1089G>ASubstitution - coding silent
APOL3ENSG00000128284ENST00000397293p.L292Lc.876G>ASubstitution - coding silent
ICAM3ENSG00000076662ENST00000160262p.P350Sc.1048C>TSubstitution - Missense
ICAM3ENSG00000076662ENST00000160262p.M196Ic.588G>ASubstitution - Missense
ABCA7ENSG00000064687ENST00000263094p.P486Sc.1456C>TSubstitution - Missense
TYK2ENSG00000105397ENST00000525621p.H872Hc.2616C>TSubstitution - coding silent
ABCA7ENSG00000064687ENST00000263094p.S244Tc.731G>CSubstitution - Missense
RAVER1ENSG00000161847ENST00000293677p.?c.1174-9T>CUnknown
RAVER1ENSG00000161847ENST00000293677p.?c.194_219+6>30Unknown
RAVER1ENSG00000161847ENST00000293677p.G82fs*6c.245delGDeletion - Frameshift
ICAM5ENSG00000105376ENST00000221980p.R166Hc.497G>ASubstitution - Missense
ICAM5ENSG00000105376ENST00000221980p.G208Ec.623G>ASubstitution - Missense
ICAM5ENSG00000105376ENST00000221980p.R311Qc.932G>ASubstitution - Missense
ZGLP1ENSG00000220201ENST00000403903p.Q61*c.181C>TSubstitution - Nonsense
ABCA7ENSG00000064687ENST00000263094p.E89Dc.267G>TSubstitution - Missense
EIF3GENSG00000130811ENST00000253108p.P197Lc.590C>TSubstitution - Missense
CNN2ENSG00000064666ENST00000263097p.S177Nc.530G>ASubstitution - Missense
C19orf66ENSG00000130813ENST00000253110p.L234Lc.702G>ASubstitution - coding silent
PPAN-P2RY11ENSG00000243207ENST00000393796p.G598Dc.1793G>ASubstitution - Missense
GGA1ENSG00000100083ENST00000343632p.R524Hc.1571G>ASubstitution - Missense
CYTH4ENSG00000100055ENST00000248901p.E117fs*44c.345delGDeletion - Frameshift
TAOK2ENSG00000149930ENST00000279394p.P441Lc.1322C>TSubstitution - Missense
FLYWCH1ENSG00000059122ENST00000416288p.I649Ic.1947C>TSubstitution - coding silent
PRR14ENSG00000156858ENST00000300835p.A224Tc.670G>ASubstitution - Missense
PRR14ENSG00000156858ENST00000300835p.G329Gc.987C>TSubstitution - coding silent
ZNF764ENSG00000169951ENST00000252797p.A357Vc.1070C>TSubstitution - Missense
ZNF764ENSG00000169951ENST00000252797p.R322Hc.965G>ASubstitution - Missense
ZNF688ENSG00000229809ENST00000395219p.R205Cc.613C>TSubstitution - Missense
ZNF785ENSG00000197162ENST00000395216p.G224Sc.670G>ASubstitution - Missense
ZNF785ENSG00000197162ENST00000395216p.Q155*c.463C>TSubstitution - Nonsense
ZNF689ENSG00000156853ENST00000287461p.A445Vc.1334C>TSubstitution - Missense
ZNF689ENSG00000156853ENST00000287461p.I306Ic.918C>TSubstitution - coding silent
CLDN9ENSG00000213937ENST00000445369p.C54Cc.162C>TSubstitution - coding silent
ITGALENSG00000005844ENST00000356798p.G462Ac.1385G>CSubstitution - Missense
ITGALENSG00000005844ENST00000356798p.V803Mc.2407G>ASubstitution - Missense
ZNF768ENSG00000169957ENST00000380412p.C518Cc.1554C>TSubstitution - coding silent
ZNF48ENSG00000180035ENST00000320159p.R249fs*43c.739delCDeletion - Frameshift
ZNF48ENSG00000180035ENST00000320159p.R499Hc.1496G>ASubstitution - Missense
ZNF771ENSG00000179965ENST00000319296p.G3Cc.7G>TSubstitution - Missense
SEPHS2ENSG00000179918ENST00000500504p.A383Vc.1148C>TSubstitution - Missense
ITGALENSG00000005844ENST00000356798p.D112Nc.334G>ASubstitution - Missense
CD2BP2ENSG00000169217ENST00000305596p.R334Rc.1002C>TSubstitution - coding silent
CD2BP2ENSG00000169217ENST00000305596p.Q235Qc.705G>ASubstitution - coding silent
ENST00000305663p.?c.817+4C>AUnknown
ENST00000305663p.?c.627+9C>AUnknown
MYLPFENSG00000180209ENST00000322861p.D152Ec.456C>GSubstitution - Missense
MAPK3ENSG00000102882ENST00000263025p.Q137Hc.411G>TSubstitution - Missense
MAPK3ENSG00000102882ENST00000263025p.Q44Kc.130C>ASubstitution - Missense
MAPK3ENSG00000102882ENST00000263025p.Q44Kc.130C>ASubstitution - Missense
MAPK3ENSG00000102882ENST00000263025p.G33Ec.98G>ASubstitution - Missense
MMP25ENSG00000008516ENST00000336577p.Q129fs*5c.381delCDeletion - Frameshift
MMP25ENSG00000008516ENST00000336577p.V230Mc.688G>ASubstitution - Missense
BCL7CENSG00000099385ENST00000380317p.R70Cc.208C>TSubstitution - Missense
SRCAPENSG00000080603ENST00000262518p.R758Hc.2273G>ASubstitution - Missense
PLEKHB2ENSG00000115762ENST00000404460p.R63Qc.188G>ASubstitution - Missense
SMPD4ENSG00000136699ENST00000409031p.A27Vc.80C>TSubstitution - Missense
TUBA3EENSG00000152086ENST00000312988p.G232Gc.696G>ASubstitution - coding silent
POTEFENSG00000196604ENST00000357462p.V135Ic.403G>ASubstitution - Missense
CCDC74BENSG00000152076ENST00000310463p.A254Gc.761C>GSubstitution - Missense
CCDC74BENSG00000152076ENST00000310463p.G182Gc.546C>TSubstitution - coding silent
MCM6ENSG00000076003ENST00000264156p.R722*c.2164C>TSubstitution - Nonsense
ZRANB3ENSG00000121988ENST00000264159p.?c.1955-10A>GUnknown
NM_032143.1p.?c.350-10A>GUnknown
PVRL3ENSG00000177707ENST00000485303p.T85Tc.255C>TSubstitution - coding silent
PVRL3ENSG00000177707ENST00000493615p.T62Tc.186C>TSubstitution - coding silent
LRP1BENSG00000168702ENST00000389484p.H1061Hc.3183C>TSubstitution - coding silent
TMPRSS7ENSG00000176040ENST00000419127p.S471Nc.1412G>ASubstitution - Missense
C3orf52ENSG00000114529ENST00000431717p.D96Nc.286G>ASubstitution - Missense
C3orf52ENSG00000114529ENST00000264848p.D96Nc.286G>ASubstitution - Missense
MAATS1ENSG00000183833ENST00000273390p.V715fs*30c.2142_2143insAInsertion - Frameshift
TMEM108ENSG00000144868ENST00000321871p.Q76*c.226C>TSubstitution - Nonsense
NUDT16ENSG00000198585ENST00000359850p.E46Kc.136G>ASubstitution - Missense
HDAC11ENSG00000163517ENST00000295757p.R197Cc.589C>TSubstitution - Missense
PPP2R3AENSG00000073711ENST00000264977p.D970Dc.2910C>TSubstitution - coding silent
CEP63ENSG00000182923ENST00000337090p.R444*c.1330C>TSubstitution - Nonsense
NME9ENSG00000181322ENST00000317876p.G18Dc.53G>ASubstitution - Missense
STAG1ENSG00000118007ENST00000383202p.R454Rc.1360A>CSubstitution - coding silent
PPP2R3AENSG00000073711ENST00000334546p.D349Dc.1047C>TSubstitution - coding silent
TRIM42ENSG00000155890ENST00000286349p.Q661Qc.1983G>ASubstitution - coding silent
ZBTB38ENSG00000177311ENST00000514251p.C33Cc.99C>TSubstitution - coding silent
PIK3CBENSG00000051382ENST00000477593p.D1067Nc.3199G>ASubstitution - Missense
IL15ENSG00000164136ENST00000320650p.S102Sc.306C>TSubstitution - coding silent
TRPC1ENSG00000144935ENST00000273482p.R310Cc.928C>TSubstitution - Missense
ENST00000319822p.A122Vc.365C>TSubstitution - Missense
NM_001184p.F270fs*8c.809delTDeletion - Frameshift
MAU2ENSG00000129933ENST00000392313p.P206Lc.617C>TSubstitution - Missense
MAU2ENSG00000129933ENST00000392313p.R131Wc.391C>TSubstitution - Missense
NCANENSG00000130287ENST00000252575p.R1119Hc.3356G>ASubstitution - Missense
NCANENSG00000130287ENST00000252575p.R1119Hc.3356G>ASubstitution - Missense
ENST00000300959p.N87Nc.261C>TSubstitution - coding silent
UPF1ENSG00000005007ENST00000262803p.F836Fc.2508C>TSubstitution - coding silent
MKNK2ENSG00000099875ENST00000250896p.Q405Qc.1215G>ASubstitution - coding silent
MKNK2ENSG00000099875ENST00000309340p.D153Dc.459C>TSubstitution - coding silent
MKNK2ENSG00000099875ENST00000250896p.?c.242-9G>CUnknown
MKNK2ENSG00000099875ENST00000309340p.?c.242-9G>CUnknown
ENST00000396734p.T309Mc.926C>TSubstitution - Missense
GIPRENSG00000010310ENST00000263281p.C16Cc.48C>TSubstitution - coding silent
RTN2ENSG00000125744ENST00000245923p.L299Lc.897G>TSubstitution - coding silent
RTN2ENSG00000125744ENST00000245923p.?c.815-8G>AUnknown
ENST00000317951_v70p.R794Cc.2380C>TSubstitution - Missense
NKPD1ENSG00000179846ENST00000317951p.P569Pc.1707G>ASubstitution - coding silent
ENST00000317951_v70p.P791Pc.2373G>ASubstitution - coding silent
CLPTM1ENSG00000104853ENST00000337392p.A88Tc.262G>ASubstitution - Missense
RELBENSG00000104856ENST00000221452p.G154Rc.460G>ASubstitution - Missense
NM_012116.2p.?c.1363-4G>AUnknown
ENST00000414155_v68p.D37Nc.109G>ASubstitution - Missense
PPP5D1ENSG00000230510ENST00000414155p.D37Nc.109G>ASubstitution - Missense
DACT3ENSG00000197380ENST00000391916p.A590Pc.1768G>CSubstitution - Missense
DACT3ENSG00000197380ENST00000391916p.A590Pc.1768G>CSubstitution - Missense
DACT3ENSG00000197380ENST00000300875p.A365Pc.1093G>CSubstitution - Missense
PRKD2ENSG00000105287ENST00000291281p.T829Mc.2486C>TSubstitution - Missense
ENST00000357909p.E357Gc.1070A>GSubstitution - Missense
HIF3AENSG00000124440ENST00000300862p.T10Mc.29C>TSubstitution - Missense
HIF3AENSG00000124440ENST00000420102p.R10Wc.28C>TSubstitution - Missense
IRF2BP1ENSG00000170604ENST00000302165p.L501fs*10c.1501delCDeletion - Frameshift
DMWDENSG00000185800ENST00000270223p.T356Tc.1068C>TSubstitution - coding silent
GIPRENSG00000010310ENST00000263281p.?c.634-4C>AUnknown
CCDC114ENSG00000105479ENST00000315396p.S438Sc.1314C>TSubstitution - coding silent
TMEM143ENSG00000161558ENST00000293261p.S46Sc.138G>ASubstitution - coding silent
PLIN3ENSG00000105355ENST00000221957p.C60Cc.180C>TSubstitution - coding silent
GLTSCR1ENSG00000063169ENST00000396720p.S1014fs*32c.3035delCDeletion - Frameshift
ZC3H4ENSG00000130749ENST00000253048p.T519Tc.1557C>ASubstitution - coding silent
ZC3H4ENSG00000130749ENST00000253048p.H409Yc.1225C>TSubstitution - Missense
ZC3H4ENSG00000130749ENST00000253048p.E282*c.844G>TSubstitution - Nonsense
GYS1ENSG00000104812ENST00000323798p.R588Hc.1763G>ASubstitution - Missense
FUT1ENSG00000174951ENST00000310160p.H253Qc.759C>ASubstitution - Missense
FUT1ENSG00000174951ENST00000310160p.H253Nc.757C>ASubstitution - Missense
FUT1ENSG00000174951ENST00000310160p.R220Rc.660C>TSubstitution - coding silent
ENST00000398240p.E192Kc.574G>ASubstitution - Missense
RASIP1ENSG00000105538ENST00000222145p.S318Sc.954A>TSubstitution - coding silent
CA11ENSG00000063180ENST00000084798p.?c.568-8C>TUnknown
CA11ENSG00000063180ENST00000084798p.G122Dc.365G>ASubstitution - Missense
SRRM2ENSG00000167978ENST00000301740p.P2197Lc.6590C>TSubstitution - Missense
GTF3C1ENSG00000077235ENST00000356183p.R1245Rc.3735C>TSubstitution - coding silent
GTF3C1ENSG00000077235ENST00000356183p.Q1075Qc.3225G>ASubstitution - coding silent
QPRTENSG00000103485ENST00000395384p.S21Sc.63C>TSubstitution - coding silent
SH2B1ENSG00000178188ENST00000337120p.R475fs*68c.1417delCDeletion - Frameshift
SH2B1ENSG00000178188ENST00000322610p.R605fs*14c.1809_1810insTInsertion - Frameshift
SH2B1ENSG00000178188ENST00000359285p.R605fs*14c.1809_1810insTInsertion - Frameshift
SH2B1ENSG00000178188ENST00000337120p.R605fs*14c.1809_1810insTInsertion - Frameshift
RABEP2ENSG00000177548ENST00000358201p.L410Lc.1230G>ASubstitution - coding silent
ATXN2LENSG00000168488ENST00000336783p.Q1067Hc.3201G>TSubstitution - Missense
SBK1ENSG00000188322ENST00000341901p.G159Gc.477C>GSubstitution - coding silent
SBK1ENSG00000188322ENST00000341901p.L160Vc.478C>GSubstitution - Missense
CORO1AENSG00000102879ENST00000219150p.A368Sc.1102G>TSubstitution - Missense
DOC2AENSG00000149927ENST00000350119p.R199Cc.595C>TSubstitution - Missense
DOC2AENSG00000149927ENST00000350119p.A54Tc.160G>ASubstitution - Missense
ALDOAENSG00000149925ENST00000338110p.L257Lc.771G>ASubstitution - coding silent
TAOK2ENSG00000149930ENST00000308893p.P441Lc.1322C>TSubstitution - Missense
TREML1ENSG00000161911ENST00000373127p.V106Gc.317T>GSubstitution - Missense
FBXL4ENSG00000112234ENST00000369244p.R22*c.64C>TSubstitution - Nonsense
FAXCENSG00000146267ENST00000389677p.M147Ic.441G>ASubstitution - Missense
PTK7ENSG00000112655ENST00000230419p.L131Mc.391C>ASubstitution - Missense
ACTL6BENSG00000077080ENST00000160382p.G393Rc.1177G>ASubstitution - Missense
ZCWPW1ENSG00000078487ENST00000398027p.T4Mc.11C>TSubstitution - Missense
CUX1ENSG00000257923ENST00000292538p.?c.1110-3C>TUnknown
TRIM56ENSG00000169871ENST00000306085p.P67Pc.201C>TSubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.V299Fc.895G>TSubstitution - Missense
LRWD1ENSG00000161036ENST00000292616p.T442Tc.1326C>TSubstitution - coding silent
MYL10ENSG00000106436ENST00000223167p.H221Pc.662A>CSubstitution - Missense
CUX1ENSG00000257923ENST00000292535p.?c.1077-3C>TUnknown
AUTS2ENSG00000158321ENST00000342771p.R126*c.376C>TSubstitution - Nonsense
ABCA2ENSG00000107331ENST00000341511p.?c.1265+5G>CUnknown
CLIC3ENSG00000169583ENST00000494426p.R200Cc.598C>TSubstitution - Missense
GTF2IENSG00000077809ENST00000324896p.T549Ic.1646C>TSubstitution - Missense
TBL2ENSG00000106638ENST00000305632p.N378Nc.1134C>TSubstitution - coding silent
NDOR1ENSG00000188566ENST00000371521p.A318Vc.953C>TSubstitution - Missense
DPP7ENSG00000176978ENST00000371579p.N199Nc.597C>TSubstitution - coding silent
GRIN1ENSG00000176884ENST00000371561p.N427Nc.1281C>TSubstitution - coding silent
ANAPC2ENSG00000176248ENST00000323927p.H248Hc.744C>TSubstitution - coding silent
ANAPC2ENSG00000176248ENST00000323927p.R63Kc.188G>ASubstitution - Missense
ENTPD2ENSG00000054179ENST00000355097p.Y350Yc.1050C>TSubstitution - coding silent
CACNA1BENSG00000148408ENST00000371372p.?c.1186+3G>TUnknown
ARRDC1ENSG00000197070ENST00000371421p.A152Ac.456C>TSubstitution - coding silent
ARRDC1ENSG00000197070ENST00000371421p.R294fs*25c.880_881insCInsertion - Frameshift
C9orf66ENSG00000183784ENST00000382387p.R237Rc.711C>GSubstitution - coding silent
ENST00000380437p.R639Cc.1915C>TSubstitution - Missense
APEX2ENSG00000169188ENST00000374987p.T356Mc.1067C>TSubstitution - Missense
STARD8ENSG00000130052ENST00000252336p.R321Rc.961C>ASubstitution - coding silent
NM_001010888.1p.V510fs*14c.1523delGDeletion - Frameshift
ZMYM3ENSG00000147130ENST00000314425p.L318Lc.954G>ASubstitution - coding silent
MED12ENSG00000184634ENST00000374080p.V1197Lc.3589G>CSubstitution - Missense
IL2RGENSG00000147168ENST00000374202p.Q144*c.430C>TSubstitution - Nonsense
ACRCENSG00000147174ENST00000373695p.S252Wc.755C>GSubstitution - Missense
OGTENSG00000147162ENST00000373701p.R338Rc.1014C>TSubstitution - coding silent
TAF1ENSG00000147133ENST00000276072p.P808Tc.2422C>ASubstitution - Missense
MAGEE2ENSG00000186675ENST00000373359p.I440Ic.1320C>TSubstitution - coding silent
ATRXENSG00000085224ENST00000373344p.S316Fc.947C>TSubstitution - Missense
JAK3ENSG00000105639ENST00000458235p.A660fs*10c.1978delGDeletion - Frameshift
JAK3ENSG00000105639ENST00000458235p.H562Hc.1686C>TSubstitution - coding silent
SATL1ENSG00000184788ENST00000509231p.R439*c.1315C>TSubstitution - Nonsense
SATL1ENSG00000184788ENST00000395409p.R252*c.754C>TSubstitution - Nonsense
BRWD3ENSG00000165288ENST00000373275p.?c.1233-8T>GUnknown
CRTC1ENSG00000105662ENST00000321949p.P225Pc.675G>ASubstitution - coding silent
ELLENSG00000105656ENST00000262809p.?c.869+8C>TUnknown
FKBP8ENSG00000105701ENST00000222308p.V18fs*32c.52delGDeletion - Frameshift
KXD1ENSG00000105700ENST00000540691p.T168Pc.502A>CSubstitution - Missense
KIAA1683ENSG00000130518ENST00000392413p.R233Rc.697C>ASubstitution - coding silent
ENST00000359737p.R233Rc.697C>ASubstitution - coding silent
X51346.1p.P184delPc.543_545delGCCDeletion - In frame
GDF15ENSG00000130513ENST00000252809p.C244Yc.731G>ASubstitution - Missense
LRRC25ENSG00000175489ENST00000339007p.A30Vc.89C>TSubstitution - Missense
ENST00000359737p.A922Vc.2765C>TSubstitution - Missense
KIAA1683ENSG00000130518ENST00000392413p.L950Lc.2850G>ASubstitution - coding silent
ARRDC2ENSG00000105643ENST00000379656p.L320Lc.958C>TSubstitution - coding silent
REXO1ENSG00000079313ENST00000170168p.G1022Sc.3064G>ASubstitution - Missense
ATP8B3ENSG00000130270ENST00000525591p.S94Sc.282G>ASubstitution - coding silent
ARRDC2ENSG00000105643ENST00000379656p.E90Kc.268G>ASubstitution - Missense
ARRDC2ENSG00000105643ENST00000222250p.T98Tc.294G>ASubstitution - coding silent
ARRDC2ENSG00000105643ENST00000379656p.T93Tc.279G>ASubstitution - coding silent
CSNK1G2ENSG00000133275ENST00000255641p.C399*c.1197C>ASubstitution - Nonsense
BTBD2ENSG00000133243ENST00000255608p.M149Ic.447G>ASubstitution - Missense
LPAR2ENSG00000064547ENST00000407877p.L282Lc.844C>TSubstitution - coding silent
TUBGCP6ENSG00000128159ENST00000248846p.V1691Fc.5071G>TSubstitution - Missense
TTLL8ENSG00000138892ENST00000266182p.L451Lc.1353G>TSubstitution - coding silent
TTLL8ENSG00000138892ENST00000433387p.L467Lc.1401G>TSubstitution - coding silent
POMGNT2ENSG00000144647ENST00000344697p.R463Rc.1389C>TSubstitution - coding silent
LMF2ENSG00000100258ENST00000216080p.R680*c.2038C>TSubstitution - Nonsense
LMF2ENSG00000100258ENST00000216080p.A666Tc.1996G>ASubstitution - Missense
NCAPH2ENSG00000025770ENST00000299821p.S467fs*51c.1397_1398insTInsertion - Frameshift
SBF1ENSG00000100241ENST00000380817p.V822Lc.2464G>CSubstitution - Missense
SBF1ENSG00000100241ENST00000380817p.C669Yc.2006G>ASubstitution - Missense
SBF1ENSG00000100241ENST00000390679p.C635Yc.1904G>ASubstitution - Missense
SBF1ENSG00000100241ENST00000380817p.Q380*c.1138C>TSubstitution - Nonsense
SBF1ENSG00000100241ENST00000390679p.Q380*c.1138C>TSubstitution - Nonsense
SBF1ENSG00000100241ENST00000380817p.S336Cc.1006A>TSubstitution - Missense
ADM2ENSG00000128165ENST00000362068p.R148Wc.442C>TSubstitution - Missense
SBF1ENSG00000100241ENST00000380817p.N1225Nc.3675C>TSubstitution - coding silent
NBEAL2ENSG00000160796ENST00000450053p.H423Nc.1267C>ASubstitution - Missense
CCR5ENSG00000160791ENST00000343801p.S215Lc.644C>TSubstitution - Missense
CCRL2ENSG00000121797ENST00000399036p.A47Vc.140C>TSubstitution - Missense
LTFENSG00000012223ENST00000231751p.Q106*c.316C>TSubstitution - Nonsense
XCR1ENSG00000173578ENST00000309285p.R257Gc.769C>GSubstitution - Missense
SLC6A20ENSG00000163817ENST00000358525p.G372Cc.1114G>TSubstitution - Missense
CDCP1ENSG00000163814ENST00000296129p.P805Pc.2415G>ASubstitution - coding silent
KIF15ENSG00000163808ENST00000326047p.A1066Dc.3197C>ASubstitution - Missense
TMEM42ENSG00000169964ENST00000302392p.V105Vc.315G>ASubstitution - coding silent
PTPN23ENSG00000076201ENST00000265562p.V178Ic.532G>ASubstitution - Missense
KIF9ENSG00000088727ENST00000265529p.D40fs*64c.117delADeletion - Frameshift
PLXNB1ENSG00000164050ENST00000296440p.P1993Pc.5979G>ASubstitution - coding silent
SRD5A1ENSG00000145545ENST00000274192p.G218Gc.654C>TSubstitution - coding silent
MAST4ENSG00000069020ENST00000403625p.R1529Rc.4587C>TSubstitution - coding silent
MAST4ENSG00000069020ENST00000405643p.R1350Rc.4050C>TSubstitution - coding silent
MAST4ENSG00000069020ENST00000403625p.P1733fs*18c.5194delCDeletion - Frameshift
MAST4ENSG00000069020ENST00000403625p.C644Cc.1932C>TSubstitution - coding silent
P4HTMENSG00000178467ENST00000343546p.R136Qc.407G>ASubstitution - Missense
ARIH2ENSG00000177479ENST00000356401p.E336Kc.1006G>ASubstitution - Missense
CELSR3ENSG00000008300ENST00000164024p.R2341fs*44c.7021delCDeletion - Frameshift
CELSR3ENSG00000008300ENST00000164024p.R2123Wc.6367C>TSubstitution - Missense
CELSR3ENSG00000008300ENST00000164024p.S979Nc.2936G>ASubstitution - Missense
CELSR3ENSG00000008300ENST00000164024p.V347Vc.1041G>ASubstitution - coding silent
UQCRC1ENSG00000010256ENST00000203407p.P141Pc.423G>TSubstitution - coding silent
TNPO1ENSG00000083312ENST00000506351p.S331Sc.993T>CSubstitution - coding silent
TMEM171ENSG00000157111ENST00000287773p.P51Hc.152C>ASubstitution - Missense
BDP1ENSG00000145734ENST00000358731p.T2186Nc.6557C>ASubstitution - Missense
IQGAP2ENSG00000145703ENST00000274364p.V1005Ic.3013G>ASubstitution - Missense
CRHBPENSG00000145708ENST00000274368p.Q67*c.199C>TSubstitution - Nonsense
AGGF1ENSG00000164252ENST00000312916p.D154Nc.460G>ASubstitution - Missense
POC5ENSG00000152359ENST00000446329p.L391Lc.1173G>ASubstitution - coding silent
ENST00000274361_v65p.L780Lc.2340G>ASubstitution - coding silent
TULP1ENSG00000112041ENST00000229771p.S16Tc.47G>CSubstitution - Missense
ENST00000357281p.P67Lc.200C>TSubstitution - Missense
ENST00000238522p.?c.11111-3C>TUnknown
TBC1D22BENSG00000065491ENST00000373491p.P217Tc.649C>ASubstitution - Missense
MDGA1ENSG00000112139ENST00000297153p.?c.2414-6C>TUnknown
TMEM217ENSG00000172738ENST00000336655p.C229Cc.687C>TSubstitution - coding silent
MAPK14ENSG00000112062ENST00000229794p.Y69Hc.205T>CSubstitution - Missense
SAYSD1ENSG00000112167ENST00000229903p.A38Tc.112G>ASubstitution - Missense
KCNK5ENSG00000164626ENST00000359534p.A88Vc.263C>TSubstitution - Missense
NM_001371.1p.R3007Ic.9020G>TSubstitution - Missense
GNMTENSG00000124713ENST00000372808p.D109Yc.325G>TSubstitution - Missense
GNMTENSG00000124713ENST00000372808p.?c.452-8G>AUnknown
UBR2ENSG00000024048ENST00000372899p.T198Mc.593C>TSubstitution - Missense
UBR2ENSG00000024048ENST00000372899p.T1370Mc.4109C>TSubstitution - Missense
TAF8ENSG00000137413ENST00000372977p.R304Cc.910C>TSubstitution - Missense
MED20ENSG00000124641ENST00000265350p.T20Ic.59C>TSubstitution - Missense
TFEBENSG00000112561ENST00000230323p.P419Pc.1257G>ASubstitution - coding silent
IHHENSG00000163501ENST00000295731p.R39Qc.116G>ASubstitution - Missense
STK36ENSG00000163482ENST00000295709p.V1055Vc.3165G>ASubstitution - coding silent
TTLL4ENSG00000135912ENST00000392102p.S1159Ic.3476G>TSubstitution - Missense
SLC4A3ENSG00000114923ENST00000273063p.C1187Yc.3560G>ASubstitution - Missense
DESENSG00000175084ENST00000373960p.E244Kc.730G>ASubstitution - Missense
COL4A4ENSG00000081052ENST00000396625p.S1673Nc.5018G>ASubstitution - Missense
IRS1ENSG00000169047ENST00000305123p.A1170Vc.3509C>TSubstitution - Missense
MRPL44ENSG00000135900ENST00000258383p.A37Tc.109G>ASubstitution - Missense
ALPIENSG00000163295ENST00000295463p.I205Ic.615C>TSubstitution - coding silent
CHRNGENSG00000196811ENST00000389494p.L87Lc.259C>TSubstitution - coding silent
CHRNGENSG00000196811ENST00000389494p.K240Kc.720G>ASubstitution - coding silent
ALPPENSG00000163283ENST00000392027p.N149Nc.447C>TSubstitution - coding silent
ALPPL2ENSG00000163286ENST00000295453p.E235Kc.703G>ASubstitution - Missense
SPP2ENSG00000072080ENST00000373368p.Y35Cc.104A>GSubstitution - Missense
UGT1A8ENSG00000241635ENST00000305208p.G96Rc.286G>ASubstitution - Missense
RBM44ENSG00000177483ENST00000316997p.S83fs*2c.241delTDeletion - Frameshift
RBM44ENSG00000177483ENST00000316997p.S83fs*2c.241delTDeletion - Frameshift
RAB17ENSG00000124839ENST00000264601p.P10Tc.28C>ASubstitution - Missense
EML6ENSG00000214595ENST00000356458p.N1060Nc.3180C>TSubstitution - coding silent
TSPYL6ENSG00000178021ENST00000317802p.L105Lc.313C>TSubstitution - coding silent
PSME4ENSG00000068878ENST00000404125p.A1768Vc.5303C>TSubstitution - Missense
NM_014614.1p.A1654Vc.4961C>TSubstitution - Missense
BCL11AENSG00000119866ENST00000335712p.A366Tc.1096G>ASubstitution - Missense
PUS10ENSG00000162927ENST00000316752p.T190Ic.569C>TSubstitution - Missense
B3GNT2ENSG00000170340ENST00000301998p.R229Kc.686G>ASubstitution - Missense
ENST00000430934p.?c.476-2A>TUnknown
PTPLBENSG00000206527ENST00000383657p.L136fs*22c.406delCDeletion - Frameshift
SEMA5BENSG00000082684ENST00000451055p.R1200Qc.3599G>ASubstitution - Missense
SEMA5BENSG00000082684ENST00000451055p.R930Hc.2789G>ASubstitution - Missense
SEMA5BENSG00000082684ENST00000195173p.R875Hc.2624G>ASubstitution - Missense
TIA1ENSG00000116001ENST00000433529p.L371Lc.1113G>ASubstitution - coding silent
RSAD2ENSG00000134321ENST00000382040p.F89Lc.267C>GSubstitution - Missense
PCBP1ENSG00000169564ENST00000303577p.R17Rc.49C>ASubstitution - coding silent
GKN2ENSG00000183607ENST00000328895p.C143Cc.429C>TSubstitution - coding silent
NM_053025p.G439Rc.1315G>ASubstitution - Missense
PDIA5ENSG00000065485ENST00000316218p.F227Fc.681C>TSubstitution - coding silent
RUVBL1ENSG00000175792ENST00000322623p.L240Lc.720G>ASubstitution - coding silent
TPRA1ENSG00000163870ENST00000355552p.C258Fc.773G>TSubstitution - Missense
MCM2ENSG00000073111ENST00000265056p.R218Cc.652C>TSubstitution - Missense
PLXNA1ENSG00000114554ENST00000393409p.R42Hc.125G>ASubstitution - Missense
UROC1ENSG00000159650ENST00000383579p.V199fs*7c.595delGDeletion - Frameshift
UROC1ENSG00000159650ENST00000290868p.V199fs*7c.595delGDeletion - Frameshift
PLXND1ENSG00000004399ENST00000324093p.A1684Ac.5052G>ASubstitution - coding silent
WBP2NLENSG00000183066ENST00000329620p.V58Vc.174G>ASubstitution - coding silent
CYP2D6ENSG00000100197ENST00000360608p.D67Dc.201C>TSubstitution - coding silent
CYP2D6ENSG00000100197ENST00000359033p.D67Dc.201C>TSubstitution - coding silent
NM_148674.1p.Q353Kc.1057C>ASubstitution - Missense
FAM118AENSG00000100376ENST00000216214p.R126Wc.376C>TSubstitution - Missense
NM_181334.1p.T211Kc.632C>ASubstitution - Missense
BRD1ENSG00000100425ENST00000342989p.R145Hc.434G>ASubstitution - Missense
ZBED4ENSG00000100426ENST00000216268p.L5Lc.15G>ASubstitution - coding silent
ZBED4ENSG00000100426ENST00000216268p.R859Wc.2575C>TSubstitution - Missense
ZBED4ENSG00000100426ENST00000216268p.T949Mc.2846C>TSubstitution - Missense
BRD1ENSG00000100425ENST00000216267p.S1026Fc.3077C>TSubstitution - Missense
BRD1ENSG00000100425ENST00000342989p.S752Fc.2255C>TSubstitution - Missense
CELSR1ENSG00000075275ENST00000262738p.G1145Sc.3433G>ASubstitution - Missense
TTC38ENSG00000075234ENST00000381031p.?c.616-8C>AUnknown
ENST00000160874p.L631Lc.1891C>TSubstitution - coding silent
SBF1ENSG00000100241ENST00000390679p.N1225Nc.3675C>TSubstitution - coding silent
SBF1ENSG00000100241ENST00000390679p.S968Tc.2903G>CSubstitution - Missense
XM_371474.2p.A1692Vc.5075C>TSubstitution - Missense
XM_371474.2p.R1223Rc.3669C>TSubstitution - coding silent
XM_371474.2p.D1208Nc.3622G>ASubstitution - Missense
HDAC10ENSG00000100429ENST00000216271p.Q358Qc.1074G>ASubstitution - coding silent
NMBRENSG00000135577ENST00000258042p.V131Mc.391G>ASubstitution - Missense
GPR126ENSG00000112414ENST00000296932p.L705Lc.2115A>GSubstitution - coding silent
CCDC170ENSG00000120262ENST00000239374p.T31Tc.93G>ASubstitution - coding silent
PLEKHG1ENSG00000120278ENST00000358517p.P1361Tc.4081C>ASubstitution - Missense
LRP11ENSG00000120256ENST00000239367p.A470Vc.1409C>TSubstitution - Missense
STXBP5ENSG00000164506ENST00000321680p.G835fs*9c.2500delGDeletion - Frameshift
CLDN20ENSG00000171217ENST00000367165p.G161Rc.481G>ASubstitution - Missense
JARID2ENSG00000008083ENST00000341776p.A1032Tc.3094G>ASubstitution - Missense
JARID2ENSG00000008083ENST00000341776p.P750Lc.2249C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.S1864Ic.5591G>TSubstitution - Missense
FNDC1ENSG00000164694ENST00000297267p.R302Qc.905G>ASubstitution - Missense
FNDC1ENSG00000164694ENST00000297267p.G725fs*12c.2170delGDeletion - Frameshift
SYTL3ENSG00000164674ENST00000360448p.A490Ac.1470C>ASubstitution - coding silent
SYNJ2ENSG00000078269ENST00000449859p.?c.994-3C>TUnknown
ARID1BENSG00000049618ENST00000346085p.V2096Mc.6286G>ASubstitution - Missense
ZDHHC14ENSG00000175048ENST00000359775p.Y146fs*17c.430delGDeletion - Frameshift
ARID1BENSG00000049618ENST00000275248p.S439Nc.1316G>ASubstitution - Missense
TIAM2ENSG00000146426ENST00000318981p.A908Tc.2722G>ASubstitution - Missense
TCP1ENSG00000120438ENST00000321394p.G291fs*7c.872delGDeletion - Frameshift
PDE10AENSG00000112541ENST00000366882p.P144Sc.430C>TSubstitution - Missense
ATXN1ENSG00000124788ENST00000244769p.P555Pc.1665T>CSubstitution - coding silent
MAP3K4ENSG00000085511ENST00000392142p.?c.4049-5C>TUnknown
MAP3K4ENSG00000085511ENST00000392142p.?c.4049-5C>TUnknown
IQCEENSG00000106012ENST00000402050p.A521Tc.1561G>ASubstitution - Missense
NOD1ENSG00000106100ENST00000222823p.L154Lc.462G>ASubstitution - coding silent
NOD1ENSG00000106100ENST00000222823p.A55Tc.163G>ASubstitution - Missense
CARD11ENSG00000198286ENST00000396946p.P568fs*32c.1703delCDeletion - Frameshift
CHN2ENSG00000106069ENST00000409041p.R26Cc.76C>TSubstitution - Missense
AMZ1ENSG00000174945ENST00000312371p.A423Vc.1268C>TSubstitution - Missense
HOXA4ENSG00000197576ENST00000360046p.R243Rc.729G>CSubstitution - coding silent
POMZP3ENSG00000146707ENST00000310842p.C159Cc.477C>TSubstitution - coding silent
ZP3ENSG00000188372ENST00000336517p.C270Cc.810C>TSubstitution - coding silent
CD36ENSG00000135218ENST00000435819p.V263fs*16c.786_807del22Deletion - Frameshift
CD36ENSG00000135218ENST00000447544p.V263fs*16c.786_807del22Deletion - Frameshift
GNAI1ENSG00000127955ENST00000351004p.K51Nc.153G>TSubstitution - Missense
HGFENSG00000019991ENST00000222390p.T239Sc.715A>TSubstitution - Missense
CACNA2D1ENSG00000153956ENST00000356860p.D653Yc.1957G>TSubstitution - Missense
ABCB4ENSG00000005471ENST00000359206p.?c.286+1G>TUnknown
DMTF1ENSG00000135164ENST00000394703p.K236fs*5c.706delADeletion - Frameshift
PCLOENSG00000186472ENST00000333891p.S134Ic.401G>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.S134Ic.401G>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.S134Ic.401G>TSubstitution - Missense
FLNAENSG00000196924ENST00000369850p.C478Yc.1433G>ASubstitution - Missense
FLNAENSG00000196924ENST00000369850p.C478Yc.1433G>ASubstitution - Missense
FLNAENSG00000196924ENST00000369850p.S262Sc.786C>TSubstitution - coding silent
FLNAENSG00000196924ENST00000369850p.R1633Pc.4898G>CSubstitution - Missense
FLNAENSG00000196924ENST00000369850p.K1538Nc.4614G>TSubstitution - Missense
SYAP1ENSG00000169895ENST00000380155p.?c.575+6C>GUnknown
RPS6KA3ENSG00000177189ENST00000379565p.T115Ic.344C>TSubstitution - Missense
STEAP3ENSG00000115107ENST00000409811p.?c.1186-4G>AUnknown
MYO7BENSG00000169994ENST00000428314p.?c.5636-10C>TUnknown
ENST00000272666p.?c.6368-10C>TUnknown
MYO7BENSG00000169994ENST00000428314p.D907Ec.2721C>GSubstitution - Missense
ERCC3ENSG00000163161ENST00000285398p.Q388*c.1162C>TSubstitution - Nonsense
GLI2ENSG00000074047ENST00000361492p.H134Hc.402C>TSubstitution - coding silent
RNF25ENSG00000163481ENST00000295704p.?c.429+5G>AUnknown
SLC11A1ENSG00000018280ENST00000233202p.E287Dc.861G>TSubstitution - Missense
AAMPENSG00000127837ENST00000248450p.L365Lc.1095G>ASubstitution - coding silent
SAP130ENSG00000136715ENST00000357702p.K167fs*39c.498delCDeletion - Frameshift
ZFAND2BENSG00000158552ENST00000289528p.?c.589-4G>AUnknown
ZFAND2BENSG00000158552ENST00000444522p.V224Ic.670G>ASubstitution - Missense
NM_005689.1p.A164Vc.491C>TSubstitution - Missense
IHHENSG00000163501ENST00000295731p.R228Hc.683G>ASubstitution - Missense
IHHENSG00000163501ENST00000295731p.P46Pc.138G>ASubstitution - coding silent
ACDENSG00000102977ENST00000219251p.D183Nc.547G>ASubstitution - Missense
ACDENSG00000102977ENST00000219251p.R55Rc.165C>ASubstitution - coding silent
ENKD1ENSG00000124074ENST00000243878p.A271Ac.813C>TSubstitution - coding silent
ENKD1ENSG00000124074ENST00000243878p.V146Vc.438C>TSubstitution - coding silent
RLTPRENSG00000159753ENST00000334583p.?c.688-3C>TUnknown
FAM65AENSG00000039523ENST00000042381p.S882*c.2645C>ASubstitution - Nonsense
ATP6V1B1ENSG00000116039ENST00000234396p.R394Wc.1180C>TSubstitution - Missense
CDH3ENSG00000062038ENST00000264012p.A790Vc.2369C>TSubstitution - Missense
ESRP2ENSG00000103067ENST00000473183p.P9fs*44c.26delCDeletion - Frameshift
ESRP2ENSG00000103067ENST00000473183p.P9fs*44c.26delCDeletion - Frameshift
PLA2G15ENSG00000103066ENST00000219345p.F223Fc.669C>TSubstitution - coding silent
SLC7A6ENSG00000103064ENST00000219343p.L370Sc.1109T>CSubstitution - Missense
SLC7A6ENSG00000103064ENST00000219343p.C497Yc.1490G>ASubstitution - Missense
NAGKENSG00000124357ENST00000244204p.C131Fc.392G>TSubstitution - Missense
INO80BENSG00000115274ENST00000233331p.C334Cc.1002C>TSubstitution - coding silent
MRPL53ENSG00000204822ENST00000258105p.C63Yc.188G>ASubstitution - Missense
CCDC142ENSG00000135637ENST00000290418p.Y519Yc.1557C>TSubstitution - coding silent
CCDC142ENSG00000135637ENST00000290418p.W57*c.170G>ASubstitution - Nonsense
WDR54ENSG00000005448ENST00000348227p.V246Ic.736G>ASubstitution - Missense
SLC4A5ENSG00000188687ENST00000394019p.I947Ic.2841C>TSubstitution - coding silent
ALMS1ENSG00000116127ENST00000264448p.N3921Dc.11761A>GSubstitution - Missense
LBX2ENSG00000179528ENST00000460508p.I190Kc.569T>ASubstitution - Missense
ZIC4ENSG00000174963ENST00000525172p.R114Cc.340C>TSubstitution - Missense
PLSCR4ENSG00000114698ENST00000354952p.D150Ec.450C>ASubstitution - Missense
ENST00000273083p.V284Vc.852G>TSubstitution - coding silent
SH2D6ENSG00000152292ENST00000340326p.A54Tc.160G>ASubstitution - Missense
DNAH6ENSG00000115423ENST00000237449p.P2608Lc.7823C>TSubstitution - Missense
FAM194AENSG00000163645ENST00000295910p.T654Ic.1961C>TSubstitution - Missense
BTDENSG00000169814ENST00000303498p.V138Vc.414C>TSubstitution - coding silent
PTX3ENSG00000163661ENST00000295927p.N32Nc.96C>TSubstitution - coding silent
PLCH1ENSG00000114805ENST00000334686p.R32Rc.96C>TSubstitution - coding silent
GPR149ENSG00000174948ENST00000389740p.S673Pc.2017T>CSubstitution - Missense
NM_005496.2p.Y642Yc.1926C>TSubstitution - coding silent
IQCJENSG00000214216ENST00000397832p.D108Nc.322G>ASubstitution - Missense
SYNPO2ENSG00000172403ENST00000307142p.K1137Ec.3409A>GSubstitution - Missense
ANK2ENSG00000145362ENST00000357077p.A1861Vc.5582C>TSubstitution - Missense
ENST00000330166p.G195Gc.585C>TSubstitution - coding silent
NUDT6ENSG00000170917ENST00000339154p.L103Lc.307C>TSubstitution - coding silent
KIAA1109ENSG00000138688ENST00000264501p.R4744Hc.14231G>ASubstitution - Missense
TRPC3ENSG00000138741ENST00000264811p.L351Fc.1051C>TSubstitution - Missense
TRPC3ENSG00000138741ENST00000379645p.F230Fc.690C>TSubstitution - coding silent
JADE1ENSG00000077684ENST00000413543p.C318Yc.953G>ASubstitution - Missense
SLC25A31ENSG00000151475ENST00000281154p.S254Rc.760A>CSubstitution - Missense
MFSD8ENSG00000164073ENST00000296468p.P356Pc.1068T>CSubstitution - coding silent
HNRNPH1ENSG00000169045ENST00000393432p.G421Rc.1261G>ASubstitution - Missense
HNRNPH1ENSG00000169045ENST00000356731p.G421Rc.1261G>ASubstitution - Missense
ZNF354CENSG00000177932ENST00000315475p.P467Lc.1400C>TSubstitution - Missense
ENST00000529122_v68p.S287Sc.861C>ASubstitution - coding silent
MGAT4BENSG00000161013ENST00000337755p.?c.651-1G>TUnknown
ENST00000356731_v68p.G421Rc.1261G>ASubstitution - Missense
PRDM9ENSG00000164256ENST00000296682p.G433Vc.1298G>TSubstitution - Missense
CDH12ENSG00000154162ENST00000382254p.P398Lc.1193C>TSubstitution - Missense
NDUFS6ENSG00000145494ENST00000274137p.Y114Sc.341A>CSubstitution - Missense
PLEKHG4BENSG00000153404ENST00000283426p.P1246Pc.3738A>GSubstitution - coding silent
PLEKHG4BENSG00000153404ENST00000283426p.L1264Lc.3792G>ASubstitution - coding silent
C1QTNF3ENSG00000082196ENST00000382065p.P129fs*96c.386delCDeletion - Frameshift
MAP7ENSG00000135525ENST00000354570p.T416Ic.1247C>TSubstitution - Missense
ZFRENSG00000056097ENST00000265069p.A825Tc.2473G>ASubstitution - Missense
TXLNBENSG00000164440ENST00000358430p.S377Nc.1130G>ASubstitution - Missense
ECT2LENSG00000203734ENST00000367682p.V314Ac.941T>CSubstitution - Missense
ADAT2ENSG00000189007ENST00000237283p.?c.96+9C>GUnknown
ENST00000367593p.?c.96+9C>GUnknown
HIVEP2ENSG00000010818ENST00000012134p.H752Rc.2255A>GSubstitution - Missense
HIVEP2ENSG00000010818ENST00000012134p.P326Lc.977C>TSubstitution - Missense
RGPD4ENSG00000196862ENST00000408999p.P517Tc.1549C>ASubstitution - Missense
SLC9A4ENSG00000180251ENST00000295269p.G784Dc.2351G>ASubstitution - Missense
HPCAL1ENSG00000115756ENST00000381765p.W30Lc.89G>TSubstitution - Missense
C2orf50ENSG00000150873ENST00000381585p.G8Rc.22G>ASubstitution - Missense
NM_006343p.Q530Hc.1590G>TSubstitution - Missense
CLASP2ENSG00000163539ENST00000333778p.E322Kc.964G>ASubstitution - Missense
CLASP2ENSG00000163539ENST00000539981p.E74Kc.220G>ASubstitution - Missense
CLASP2ENSG00000163539ENST00000333778p.V803Vc.2409C>TSubstitution - coding silent
TRIM71ENSG00000206557ENST00000383763p.V622Vc.1866C>TSubstitution - coding silent
TRNT1ENSG00000072756ENST00000251607p.?c.609-9G>AUnknown
XYLBENSG00000093217ENST00000207870p.?c.646+10G>AUnknown
C3orf35ENSG00000198590ENST00000426078p.E18Ec.54A>GSubstitution - coding silent
LRRFIP2ENSG00000093167ENST00000336686p.R571Qc.1712G>ASubstitution - Missense
TRANK1ENSG00000168016ENST00000429976p.Y918Hc.2752T>CSubstitution - Missense
TRANK1ENSG00000168016ENST00000301807p.Y368Hc.1102T>CSubstitution - Missense
SCN5AENSG00000183873ENST00000413689p.V294Mc.880G>ASubstitution - Missense
ENST00000333535_v68p.V294Mc.880G>ASubstitution - Missense
NKTRENSG00000114857ENST00000232978p.S1203Nc.3608G>ASubstitution - Missense
XIRP1ENSG00000168334ENST00000340369p.L895Lc.2683C>TSubstitution - coding silent
XIRP1ENSG00000168334ENST00000340369p.L751Pc.2252T>CSubstitution - Missense
XIRP1ENSG00000168334ENST00000340369p.A717Tc.2149G>ASubstitution - Missense
WDR48ENSG00000114742ENST00000302313p.A257Ac.771G>ASubstitution - coding silent
SCN10AENSG00000185313ENST00000449082p.P771Tc.2311C>ASubstitution - Missense
PDHA2ENSG00000163114ENST00000295266p.A338Gc.1013C>GSubstitution - Missense
DGKQENSG00000145214ENST00000273814p.R762Wc.2284C>TSubstitution - Missense
TMEM175ENSG00000127419ENST00000264771p.S241Lc.722C>TSubstitution - Missense
KLHL40ENSG00000157119ENST00000287777p.R474Rc.1422G>ASubstitution - coding silent
SLC12A7ENSG00000113504ENST00000264930p.A246Vc.737C>TSubstitution - Missense
SLC12A7ENSG00000113504ENST00000264930p.T715Mc.2144C>TSubstitution - Missense
GPR56ENSG00000205336ENST00000379696p.A98Tc.292G>ASubstitution - Missense
GPR56ENSG00000205336ENST00000379696p.A196Vc.587C>TSubstitution - Missense
CCDC135ENSG00000159625ENST00000360716p.K167Kc.501G>ASubstitution - coding silent
KCNN2ENSG00000080709ENST00000264773p.R559Qc.1676G>ASubstitution - Missense
KCNN2ENSG00000080709ENST00000503706p.R211Qc.632G>ASubstitution - Missense
CKLFENSG00000217555ENST00000264001p.A39Tc.115G>ASubstitution - Missense
CMTM1ENSG00000089505ENST00000336328p.T78Ic.233C>TSubstitution - Missense
NHLRC4ENSG00000257108ENST00000424439p.C83Yc.248G>ASubstitution - Missense
CDH11ENSG00000140937ENST00000394156p.L655Mc.1963C>ASubstitution - Missense
CAPN15ENSG00000103326ENST00000219611p.P503Pc.1509C>ASubstitution - coding silent
C16orf11ENSG00000161992ENST00000409413p.H25Hc.75C>TSubstitution - coding silent
KATNB1ENSG00000140854ENST00000379661p.A450fs*16c.1347delGDeletion - Frameshift
FAM65AENSG00000039523ENST00000379312p.H188fs*26c.557delGDeletion - Frameshift
FHOD1ENSG00000135723ENST00000258201p.A1089Gc.3266C>GSubstitution - Missense
EXOC3L1ENSG00000179044ENST00000314586p.R476Kc.1427G>ASubstitution - Missense
EXOC3L1ENSG00000179044ENST00000314586p.R476Kc.1427G>ASubstitution - Missense
ELMO3ENSG00000102890ENST00000393997p.R119Lc.356G>TSubstitution - Missense
CES4AENSG00000172824ENST00000398354p.F252Lc.756C>GSubstitution - Missense
CES4AENSG00000172824ENST00000398354p.V349Vc.1047C>TSubstitution - coding silent
FBXL8ENSG00000135722ENST00000258200p.L174Lc.522A>GSubstitution - coding silent
SLC12A4ENSG00000124067ENST00000316341p.A148Ec.443C>ASubstitution - Missense
NFATC3ENSG00000072736ENST00000346183p.S177Fc.530C>TSubstitution - Missense
NFATC3ENSG00000072736ENST00000329524p.S177Fc.530C>TSubstitution - Missense
SLC12A4ENSG00000124067ENST00000316341p.S468Sc.1404C>TSubstitution - coding silent
CENPTENSG00000102901ENST00000219172p.S68Fc.203C>TSubstitution - Missense
EDC4ENSG00000038358ENST00000358933p.A876Vc.2627C>TSubstitution - Missense
NRN1LENSG00000188038ENST00000339176p.A139Vc.416C>TSubstitution - Missense
ENST00000291011p.W97*c.291G>ASubstitution - Nonsense
ENST00000403458_v68p.S114Cc.340A>TSubstitution - Missense
C16orf86ENSG00000159761ENST00000403458p.S114Cc.340A>TSubstitution - Missense
ENST00000291011p.S129Cc.385A>TSubstitution - Missense
ENST00000291011p.S176Nc.527G>ASubstitution - Missense
GFOD2ENSG00000141098ENST00000268797p.D371Nc.1111G>ASubstitution - Missense
RAB40CENSG00000197562ENST00000535977p.N232Nc.696C>TSubstitution - coding silent
RLTPRENSG00000159753ENST00000334583p.D1154fs*6c.3455_3456insGInsertion - Frameshift
GPR124ENSG00000020181ENST00000412232p.S338Nc.1013G>ASubstitution - Missense
RAB11FIP1ENSG00000156675ENST00000330843p.S1156Sc.3468G>ASubstitution - coding silent
KCNU1ENSG00000215262ENST00000399881p.M271Vc.811A>GSubstitution - Missense
WRNENSG00000165392ENST00000298139p.D163Ac.488A>CSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.G1252Dc.3755G>ASubstitution - Missense
ENST00000318252p.G981Dc.2942G>ASubstitution - Missense
WHSC1L1ENSG00000147548ENST00000317025p.A1027Vc.3080C>TSubstitution - Missense
HGSNATENSG00000165102ENST00000297798p.W365fs*>3c.1088delTDeletion - Frameshift
THAP1ENSG00000131931ENST00000254250p.?c.267+8G>AUnknown
AP3M2ENSG00000070718ENST00000396926p.T142Mc.425C>TSubstitution - Missense
LANCL3ENSG00000147036ENST00000378621p.E230Kc.688G>ASubstitution - Missense
DMDENSG00000198947ENST00000357033p.H493Rc.1478A>GSubstitution - Missense
USP9XENSG00000124486ENST00000324545p.A944Vc.2831C>TSubstitution - Missense
OTTHUMT00000056248.1p.A937Vc.2810C>TSubstitution - Missense
MID1IP1ENSG00000165175ENST00000457894p.E102*c.304G>TSubstitution - Nonsense
XM_372202.2p.R432Qc.1295G>ASubstitution - Missense
NM_021140.1p.S1274Sc.3822C>TSubstitution - coding silent
GSPT2ENSG00000189369ENST00000340438p.K564fs*13c.1687delADeletion - Frameshift
EPN1ENSG00000063245ENST00000411543p.R98Cc.292C>TSubstitution - Missense
EPN1ENSG00000063245ENST00000270460p.P203Lc.608C>TSubstitution - Missense
ZNF579ENSG00000218891ENST00000325421p.P349Pc.1047G>ASubstitution - coding silent
ZNF580ENSG00000213015ENST00000325333p.P39Lc.116C>TSubstitution - Missense
SSC5DENSG00000179954ENST00000389623p.R499Wc.1495C>TSubstitution - Missense
SSC5DENSG00000179954ENST00000389623p.A636Tc.1906G>ASubstitution - Missense
NM_014501.1p.D214Dc.642C>TSubstitution - coding silent
SHISA7ENSG00000187902ENST00000376325p.R215Wc.643C>TSubstitution - Missense
HUWE1ENSG00000086758ENST00000342160p.F1537fs*4c.4611delTDeletion - Frameshift
ENST00000342088p.P163Pc.489C>TSubstitution - coding silent
ENST00000342088p.S72Rc.214A>CSubstitution - Missense
ZNF543ENSG00000178229ENST00000321545p.?c.242-1G>TUnknown
PEG3ENSG00000198300ENST00000326441p.P77Pc.231G>ASubstitution - coding silent
PEG3ENSG00000198300ENST00000423103p.P77Pc.231G>ASubstitution - coding silent
ZNF606ENSG00000166704ENST00000341164p.C691Yc.2072G>ASubstitution - Missense
ZNF530ENSG00000183647ENST00000332854p.S270Nc.809G>ASubstitution - Missense
ZNF549ENSG00000121406ENST00000376233p.T552Ic.1655C>TSubstitution - Missense
ZNF549ENSG00000121406ENST00000240719p.T539Ic.1616C>TSubstitution - Missense
ZNF530ENSG00000183647ENST00000332854p.Y39Hc.115T>CSubstitution - Missense
ZNF446ENSG00000083838ENST00000335841p.Q243Qc.729G>ASubstitution - coding silent
SLC27A5ENSG00000083807ENST00000263093p.V570Vc.1710G>TSubstitution - coding silent
ZBTB45ENSG00000119574ENST00000354590p.P161Hc.482C>ASubstitution - Missense
BCL6BENSG00000161940ENST00000293805p.S375Sc.1125C>TSubstitution - coding silent
BCL6BENSG00000161940ENST00000293805p.S375Sc.1125C>TSubstitution - coding silent
SLC16A11ENSG00000174326ENST00000308009p.A357Ac.1071C>TSubstitution - coding silent
C17orf49ENSG00000258315ENST00000546495p.S36fs*27c.106_107insTInsertion - Frameshift
C17orf49ENSG00000258315ENST00000439424p.S36fs*27c.106_107insTInsertion - Frameshift
RNASEK-C17orf49ENSG00000161939ENST00000547302p.S77fs*27c.228_229insTInsertion - Frameshift
GLOD4ENSG00000167699ENST00000301329p.P137Lc.410C>TSubstitution - Missense
MAP2K6ENSG00000108984ENST00000359094p.Y64Yc.192C>TSubstitution - coding silent
ABCA6ENSG00000154262ENST00000284425p.T510Tc.1530G>TSubstitution - coding silent
WIPI1ENSG00000070540ENST00000262139p.G36Gc.108G>ASubstitution - coding silent
TRIM28ENSG00000130726ENST00000253024p.R744Hc.2231G>ASubstitution - Missense
ACAP1ENSG00000072818ENST00000158762p.Y514Yc.1542C>TSubstitution - coding silent
NEURL4ENSG00000215041ENST00000399464p.R355Hc.1064G>ASubstitution - Missense
ASGR1ENSG00000141505ENST00000380920p.W108Gc.322T>GSubstitution - Missense
ARSAENSG00000100299ENST00000395619p.W195fs*5c.582delCDeletion - Frameshift
SHANK3ENSG00000251322ENST00000262795p.V334Dc.1001T>ASubstitution - Missense
LLGL2ENSG00000073350ENST00000167462p.P137Tc.409C>ASubstitution - Missense
LLGL2ENSG00000073350ENST00000578363p.P137Tc.409C>ASubstitution - Missense
KIAA0195ENSG00000177728ENST00000314256p.A160Vc.479C>TSubstitution - Missense
C17orf74ENSG00000184560ENST00000333870p.P194Pc.582G>ASubstitution - coding silent
C17orf74ENSG00000184560ENST00000333870p.G454Gc.1362C>TSubstitution - coding silent
ATP5HENSG00000167863ENST00000301587p.A76Tc.226G>ASubstitution - Missense
NM_003985p.P521fs*80c.1557delCDeletion - Frameshift
AFF3ENSG00000144218ENST00000356421p.R57*c.169C>TSubstitution - Nonsense
CCDC157ENSG00000187860ENST00000338306p.T620Ic.1859C>TSubstitution - Missense
SEC14L4ENSG00000133488ENST00000255858p.L131Lc.391C>TSubstitution - coding silent
ZNF513ENSG00000163795ENST00000323703p.A478Vc.1433C>TSubstitution - Missense
BPIFCENSG00000184459ENST00000397452p.G129*c.385G>TSubstitution - Nonsense
PLB1ENSG00000163803ENST00000327757p.?c.2248-4A>CUnknown
PLB1ENSG00000163803ENST00000422425p.?c.2215-4A>CUnknown
GCKRENSG00000084734ENST00000264717p.A287Vc.860C>TSubstitution - Missense
SPASTENSG00000021574ENST00000315285p.L354Lc.1062G>ASubstitution - coding silent
EHD3ENSG00000013016ENST00000322054p.R231Wc.691C>TSubstitution - Missense
RASGRP3ENSG00000152689ENST00000403687p.A550Vc.1649C>TSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.K4762Tc.14285A>CSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.R1291Qc.3872G>ASubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.R1291Qc.3872G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P4383Lc.13148C>TSubstitution - Missense
ENST00000405167p.P4255Lc.12764C>TSubstitution - Missense
ENST00000405167p.S5185Nc.15554G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T5289Ic.15866C>TSubstitution - Missense
STRNENSG00000115808ENST00000263918p.N549Dc.1645A>GSubstitution - Missense
HEATR5BENSG00000008869ENST00000233099p.L854Lc.2560C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.Q3389*c.10165C>TSubstitution - Nonsense
ENST00000405167p.H3389Yc.10165C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.H3837Dc.11509C>GSubstitution - Missense
ENST00000405167p.H3837Dc.11509C>GSubstitution - Missense
ENST00000405167p.S2135Sc.6405C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.S2135Sc.6405C>TSubstitution - coding silent
WDR53ENSG00000185798ENST00000332629p.G239Gc.717C>TSubstitution - coding silent
KAT2BENSG00000114166ENST00000263754p.A679Ac.2037A>GSubstitution - coding silent
LRCH3ENSG00000186001ENST00000438796p.Q499Hc.1497G>TSubstitution - Missense
BDH1ENSG00000161267ENST00000392378p.L182fs*34c.544delCDeletion - Frameshift
PIGZENSG00000119227ENST00000412723p.P149Lc.446C>TSubstitution - Missense
NRROSENSG00000174004ENST00000328557p.R44Rc.130C>ASubstitution - coding silent
PCYT1AENSG00000161217ENST00000292823p.C139Yc.416G>ASubstitution - Missense
EPHA6ENSG00000080224ENST00000389672p.A190Vc.569C>TSubstitution - Missense
SU_EPHA6p.A96Vc.287C>TSubstitution - Missense
OXSMENSG00000151093ENST00000280701p.L76Lc.226C>TSubstitution - coding silent
CNTN4ENSG00000144619ENST00000418658p.M1Ic.3G>TSubstitution - Missense
THRBENSG00000151090ENST00000396671p.R23Qc.68G>ASubstitution - Missense
MINAENSG00000170854ENST00000360258p.G15Gc.45G>ASubstitution - coding silent
PRRT3ENSG00000163704ENST00000295984p.P433fs*35c.1298delCDeletion - Frameshift
PRRT3ENSG00000163704ENST00000295984p.K48Kc.144G>ASubstitution - coding silent
IL17REENSG00000163701ENST00000454190p.V404fs*15c.1204delCDeletion - Frameshift
CPOXENSG00000080819ENST00000264193p.K151Kc.453G>ASubstitution - coding silent
OGG1ENSG00000114026ENST00000302008p.A85Dc.254C>ASubstitution - Missense
OGG1ENSG00000114026ENST00000344629p.A85Dc.254C>ASubstitution - Missense
OGG1ENSG00000114026ENST00000339511p.A85Dc.254C>ASubstitution - Missense
OGG1ENSG00000114026ENST00000302008p.?c.566-1G>TUnknown
OGG1ENSG00000114026ENST00000344629p.?c.566-1G>TUnknown
OGG1ENSG00000114026ENST00000339511p.?c.566-1G>TUnknown
PPP3CAENSG00000138814ENST00000394854p.?c.783-3C>AUnknown
WDR1ENSG00000071127ENST00000499869p.?c.17-4G>AUnknown
ENST00000400001p.?c.17-4G>AUnknown
MTTPENSG00000138823ENST00000265517p.?c.1344+8C>TUnknown
MTTPENSG00000138823ENST00000265517p.E468fs*10c.1396delADeletion - Frameshift
SLC2A9ENSG00000109667ENST00000264784p.P29fs*11c.84delGDeletion - Frameshift
HADHENSG00000138796ENST00000403312p.T113Ic.338C>TSubstitution - Missense
TET2ENSG00000168769ENST00000305737p.R881Rc.2643G>ASubstitution - coding silent
AFAP1ENSG00000196526ENST00000420658p.?c.905-5G>TUnknown
AFAP1ENSG00000196526ENST00000360265p.?c.905-5G>TUnknown
SEC31AENSG00000138674ENST00000395310p.P367Lc.1100C>TSubstitution - Missense
MEPEENSG00000152595ENST00000361056p.N41fs*21c.115_116insAInsertion - Frameshift
PTPN13ENSG00000163629ENST00000436978p.K285fs*45c.848delADeletion - Frameshift
PTPN13ENSG00000163629ENST00000436978p.Q430*c.1288C>TSubstitution - Nonsense
CCSER1ENSG00000184305ENST00000509176p.T313Ac.937A>GSubstitution - Missense
CCSER1ENSG00000184305ENST00000432775p.T313Ac.937A>GSubstitution - Missense
VPS9D1ENSG00000075399ENST00000389386p.Q48Rc.143A>GSubstitution - Missense
SPG7ENSG00000197912ENST00000268704p.L616Lc.1848C>ASubstitution - coding silent
SPG7ENSG00000197912ENST00000341316p.G352fs*44c.1053_1054insCInsertion - Frameshift
SPG7ENSG00000197912ENST00000341316p.F378Fc.1134C>TSubstitution - coding silent
SPG7ENSG00000197912ENST00000268704p.V475Ic.1423G>ASubstitution - Missense
ANKRD11ENSG00000167522ENST00000301030p.G1316Wc.3946G>TSubstitution - Missense
GALNSENSG00000141012ENST00000268695p.H398Qc.1194C>ASubstitution - Missense
PIEZO1ENSG00000103335ENST00000301015p.R947Wc.2839C>TSubstitution - Missense
PIEZO1ENSG00000103335ENST00000301015p.K578Nc.1734G>CSubstitution - Missense
HAS1ENSG00000105509ENST00000222115p.A430Ac.1290G>ASubstitution - coding silent
ENSG00000268500ENST00000429354p.S306Yc.917C>ASubstitution - Missense
ZNF175ENSG00000105497ENST00000262259p.?c.199+8C>TUnknown
DNAH9ENSG00000007174ENST00000262442p.I1078Sc.3233T>GSubstitution - Missense
TMEM220ENSG00000187824ENST00000341871p.V72Mc.214G>ASubstitution - Missense
MYH3ENSG00000109063ENST00000226209p.G760Vc.2279G>TSubstitution - Missense
ZNF83ENSG00000167766ENST00000301096p.I129Fc.385A>TSubstitution - Missense
ZNF83ENSG00000167766ENST00000301096p.K122Nc.366A>TSubstitution - Missense
ZNF534ENSG00000198633ENST00000332323p.N622Sc.1865A>GSubstitution - Missense
FPR3ENSG00000187474ENST00000339223p.A265Tc.793G>ASubstitution - Missense
CDC34ENSG00000099804ENST00000215574p.D227Nc.679G>ASubstitution - Missense
ZNF845ENSG00000213799ENST00000458035p.L151Vc.451C>GSubstitution - Missense
LAMA5ENSG00000130702ENST00000252999p.T257Ic.770C>TSubstitution - Missense
LAMA5ENSG00000130702ENST00000252999p.S3591Sc.10773C>TSubstitution - coding silent
LILRA5ENSG00000187116ENST00000432233p.V243Ic.727G>ASubstitution - Missense
LENG1ENSG00000105617ENST00000222224p.D197Dc.591C>TSubstitution - coding silent
STMN3ENSG00000197457ENST00000370053p.E177Ec.531G>ASubstitution - coding silent
HELZ2ENSG00000130589ENST00000467148p.C2616Sc.7846T>ASubstitution - Missense
KCNQ2ENSG00000075043ENST00000359125p.R489Cc.1465C>TSubstitution - Missense
DIDO1ENSG00000101191ENST00000395343p.A521Tc.1561G>ASubstitution - Missense
DIDO1ENSG00000101191ENST00000370371p.A521Tc.1561G>ASubstitution - Missense
DIDO1ENSG00000101191ENST00000370366p.A521Tc.1561G>ASubstitution - Missense
DIDO1ENSG00000101191ENST00000370366p.V388Mc.1162G>ASubstitution - Missense
DIDO1ENSG00000101191ENST00000370371p.R83Hc.248G>ASubstitution - Missense
DIDO1ENSG00000101191ENST00000370371p.A81Vc.242C>TSubstitution - Missense
DIDO1ENSG00000101191ENST00000370366p.A81Vc.242C>TSubstitution - Missense
DIDO1ENSG00000101191ENST00000395343p.P1780Lc.5339C>TSubstitution - Missense
DIDO1ENSG00000101191ENST00000395343p.T927Tc.2781G>ASubstitution - coding silent
TCFL5ENSG00000101190ENST00000217162p.E340fs*36c.1018delGDeletion - Frameshift
MRGBPENSG00000101189ENST00000370487p.R177Qc.530G>ASubstitution - Missense
SCRT2ENSG00000215397ENST00000246104p.D181Hc.541G>CSubstitution - Missense
ENST00000358393p.L76Lc.228G>ASubstitution - coding silent
RGS19ENSG00000171700ENST00000395042p.A7Tc.19G>ASubstitution - Missense
RTEL1ENSG00000258366ENST00000508582p.P82Pc.246G>ASubstitution - coding silent
RTEL1ENSG00000258366ENST00000508582p.G225Rc.673G>ASubstitution - Missense
ANGPT4ENSG00000101280ENST00000381922p.S20Yc.59C>ASubstitution - Missense
NM_000933.2p.?c.1414+6T>CUnknown
ANGPT4ENSG00000101280ENST00000381922p.Q180Kc.538C>ASubstitution - Missense
TTC28ENSG00000100154ENST00000397906p.A1671Tc.5011G>ASubstitution - Missense
TPST2ENSG00000128294ENST00000398110p.N175Kc.525C>ASubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.P2368Sc.7102C>TSubstitution - Missense
CCDC157ENSG00000187860ENST00000405659p.L86Lc.258G>CSubstitution - coding silent
CCDC157ENSG00000187860ENST00000338306p.L35Lc.105G>CSubstitution - coding silent
AP1B1ENSG00000100280ENST00000357586p.R520Wc.1558C>TSubstitution - Missense
EWSR1ENSG00000182944ENST00000397938p.Q15*c.43C>TSubstitution - Nonsense
EWSR1ENSG00000182944ENST00000397938p.Q256*c.766C>TSubstitution - Nonsense
EWSR1ENSG00000182944ENST00000414183p.N339Sc.1016A>GSubstitution - Missense
EWSR1ENSG00000182944ENST00000397938p.N334Sc.1001A>GSubstitution - Missense
PRR14LENSG00000183530ENST00000327423p.S181Sc.543C>TSubstitution - coding silent
DEPDC5ENSG00000100150ENST00000400248p.L23Lc.67C>TSubstitution - coding silent
DEPDC5ENSG00000100150ENST00000535622p.L23Lc.67C>TSubstitution - coding silent
INPP5JENSG00000185133ENST00000331075p.G433Gc.1299C>TSubstitution - coding silent
OSBP2ENSG00000184792ENST00000332585p.H910Yc.2728C>TSubstitution - Missense
OSBP2ENSG00000184792ENST00000403222p.H744Yc.2230C>TSubstitution - Missense
CCDC157ENSG00000187860ENST00000405659p.T671Ic.2012C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.V9344fs*11c.28029_28030insAInsertion - Frameshift
ENST00000356127p.V9344fs*11c.28029_28030insAInsertion - Frameshift
ENST00000541862p.D340Ec.1020T>GSubstitution - Missense
ENST00000541862p.R307fs*7c.912_913insAInsertion - Frameshift
BOLLENSG00000152430ENST00000321801p.?c.21+9G>AUnknown
SF3B1ENSG00000115524ENST00000335508p.D114Nc.340G>ASubstitution - Missense
BZW1ENSG00000082153ENST00000452790p.L72Lc.214T>CSubstitution - coding silent
CDK15ENSG00000138395ENST00000374598p.P326Lc.977C>TSubstitution - Missense
ENSG00000182329ENST00000295844p.D164Vc.491A>TSubstitution - Missense
NDUFB3ENSG00000119013ENST00000237889p.S90Sc.270C>TSubstitution - coding silent
TWIST2ENSG00000233608ENST00000448943p.L121Mc.361C>ASubstitution - Missense
C2orf44ENSG00000163026ENST00000295148p.V601Lc.1801G>CSubstitution - Missense
DNMT3AENSG00000119772ENST00000321117p.E442*c.1324G>TSubstitution - Nonsense
EFR3BENSG00000084710ENST00000264719p.R310Hc.929G>ASubstitution - Missense
EFR3BENSG00000084710ENST00000403714p.T683Ic.2048C>TSubstitution - Missense
NCOA1ENSG00000084676ENST00000405141p.T1020Tc.3060G>ASubstitution - coding silent
SH3YL1ENSG00000035115ENST00000405430p.A70Ac.210G>ASubstitution - coding silent
KHKENSG00000138030ENST00000260599p.K197Nc.591G>CSubstitution - Missense
OTOFENSG00000115155ENST00000272371p.R1205Hc.3614G>ASubstitution - Missense
OTOFENSG00000115155ENST00000339598p.R458Hc.1373G>ASubstitution - Missense
DRC1ENSG00000157856ENST00000288710p.K340Rc.1019A>GSubstitution - Missense
VWA3BENSG00000168658ENST00000477737p.A1157Vc.3470C>TSubstitution - Missense
VWA3BENSG00000168658ENST00000477737p.A1254Ac.3762C>TSubstitution - coding silent
CADENSG00000084774ENST00000264705p.K46Kc.138G>ASubstitution - coding silent
EMILIN1ENSG00000138080ENST00000380320p.A524Vc.1571C>TSubstitution - Missense
EMILIN1ENSG00000138080ENST00000380320p.G966Sc.2896G>ASubstitution - Missense
KHKENSG00000138030ENST00000260598p.K197Nc.591G>CSubstitution - Missense
ZBTB11ENSG00000066422ENST00000312938p.*1054Gc.3160T>GNonstop extension
NM_020654.2p.K393Nc.1179G>CSubstitution - Missense
ABI3BPENSG00000154175ENST00000383691p.?c.2975-4T>CUnknown
EIF5BENSG00000158417ENST00000289371p.Q195Kc.583C>ASubstitution - Missense
KIAA1211LENSG00000196872ENST00000397899p.S710Ic.2129G>TSubstitution - Missense
KIAA1211LENSG00000196872ENST00000397899p.R197Rc.591G>TSubstitution - coding silent
BBXENSG00000114439ENST00000415149p.P889Tc.2665C>ASubstitution - Missense
ATP2B2ENSG00000157087ENST00000360273p.D253Ec.759C>GSubstitution - Missense
ATP2B2ENSG00000157087ENST00000383800p.D253Ec.759C>GSubstitution - Missense
IRAK2ENSG00000134070ENST00000256458p.R364fs*6c.1087delADeletion - Frameshift
IRAK2ENSG00000134070ENST00000256458p.R364fs*6c.1087delADeletion - Frameshift
ITGAMENSG00000169896ENST00000287497p.S1142Nc.3425G>ASubstitution - Missense
MMP25ENSG00000008516ENST00000336577p.E415Kc.1243G>ASubstitution - Missense
MMP25ENSG00000008516ENST00000336577p.P518Lc.1553C>TSubstitution - Missense
SLX4ENSG00000188827ENST00000294008p.V197Vc.591G>ASubstitution - coding silent
SLX4ENSG00000188827ENST00000294008p.?c.2014-1G>AUnknown
ENST00000407030p.S146Yc.437C>ASubstitution - Missense
MEFVENSG00000103313ENST00000219596p.V302Ic.904G>ASubstitution - Missense
ARHGDIGENSG00000242173ENST00000219409p.S87Nc.260G>ASubstitution - Missense
RGS11ENSG00000076344ENST00000397770p.S68Wc.203C>GSubstitution - Missense
DNAJA3ENSG00000103423ENST00000262375p.A160Tc.478G>ASubstitution - Missense
NME4ENSG00000103202ENST00000219479p.L172Lc.514C>TSubstitution - coding silent
CTU2ENSG00000174177ENST00000453996p.P358Sc.1072C>TSubstitution - Missense
CTU2ENSG00000174177ENST00000312060p.P358Sc.1072C>TSubstitution - Missense
CTU2ENSG00000174177ENST00000312060p.K373Nc.1119G>TSubstitution - Missense
CTU2ENSG00000174177ENST00000312060p.R427Rc.1279C>ASubstitution - coding silent
PIEZO1ENSG00000103335ENST00000301015p.R2290Wc.6868C>TSubstitution - Missense
CYBAENSG00000051523ENST00000261623p.G25fs*49c.74delGDeletion - Frameshift
CYBAENSG00000051523ENST00000261623p.N11Nc.33C>TSubstitution - coding silent
MVDENSG00000167508ENST00000301012p.G157Dc.470G>ASubstitution - Missense
FBXO31ENSG00000103264ENST00000311635p.Q395Qc.1185G>ASubstitution - coding silent
NM_024735.2p.Q223Qc.669G>ASubstitution - coding silent
ENSG00000258947ENST00000315491p.R309Rc.927C>ASubstitution - coding silent
GAS8ENSG00000141013ENST00000268699p.K74delKc.215_217delAGADeletion - In frame
TCF25ENSG00000141002ENST00000263346p.S137Sc.411C>TSubstitution - coding silent
ZNF276ENSG00000158805ENST00000443381p.R410Qc.1229G>ASubstitution - Missense
VPS9D1ENSG00000075399ENST00000389386p.E80*c.238G>TSubstitution - Nonsense
LOXHD1ENSG00000167210ENST00000536736p.H1531Yc.4591C>TSubstitution - Missense
SMAD4ENSG00000141646ENST00000342988p.P303Pc.909T>GSubstitution - coding silent
WDR7ENSG00000091157ENST00000254442p.M904Ic.2712G>ASubstitution - Missense
ZBTB14ENSG00000198081ENST00000357006p.A437Vc.1310C>TSubstitution - Missense
TCF4ENSG00000196628ENST00000398339p.P328Lc.983C>TSubstitution - Missense
CTC1ENSG00000178971ENST00000315684p.?c.1078-3C>TUnknown
PFASENSG00000178921ENST00000314666p.H908Nc.2722C>ASubstitution - Missense
SERPINB4ENSG00000206073ENST00000341074p.F371Fc.1113C>TSubstitution - coding silent
SERPINB4ENSG00000206073ENST00000341074p.P357Tc.1069C>ASubstitution - Missense
AURKBENSG00000178999ENST00000585124p.A276Tc.826G>ASubstitution - Missense
AURKBENSG00000178999ENST00000585124p.A276Tc.826G>ASubstitution - Missense
AURKBENSG00000178999ENST00000585124p.D255Nc.763G>ASubstitution - Missense
AURKBENSG00000178999ENST00000585124p.D255Nc.763G>ASubstitution - Missense
BCL2ENSG00000171791ENST00000398117p.G5Wc.13G>TSubstitution - Missense
BCL2ENSG00000171791ENST00000398117p.G5Wc.13G>TSubstitution - Missense
ENST00000342845p.G139fs*42c.414_415insAInsertion - Frameshift
TUBB6ENSG00000176014ENST00000317702p.A254Vc.761C>TSubstitution - Missense
PIEZO2ENSG00000154864ENST00000302079p.T783Ic.2348C>TSubstitution - Missense
CTAGE1ENSG00000212710ENST00000391403p.R683Kc.2048G>ASubstitution - Missense
ZNF337ENSG00000130684ENST00000376436p.R63Wc.187C>TSubstitution - Missense
PYGBENSG00000100994ENST00000216962p.N285Nc.855C>TSubstitution - coding silent
TGM6ENSG00000166948ENST00000202625p.?c.1093+10A>GUnknown
TPX2ENSG00000088325ENST00000300403p.Q67Qc.201G>ASubstitution - coding silent
ID1ENSG00000125968ENST00000376112p.Q61*c.181C>TSubstitution - Nonsense
VPS16ENSG00000215305ENST00000380445p.L485Lc.1455G>ASubstitution - coding silent
ENSG00000204393ENST00000375670p.?c.31-1G>TUnknown
DNMT3BENSG00000088305ENST00000328111p.?c.922-4G>AUnknown
POFUT1ENSG00000101346ENST00000375749p.A293Vc.878C>TSubstitution - Missense
TTLL9ENSG00000131044ENST00000375938p.K110Kc.330G>ASubstitution - coding silent
DIP2AENSG00000160305ENST00000457905p.L220Lc.660G>ASubstitution - coding silent
DIP2AENSG00000160305ENST00000417564p.L220Lc.660G>ASubstitution - coding silent
MCM3APENSG00000160294ENST00000397708p.S802Sc.2406C>TSubstitution - coding silent
MCM3APENSG00000160294ENST00000397708p.S698Nc.2093G>ASubstitution - Missense
BPIFB6ENSG00000167104ENST00000349552p.G128Gc.384C>TSubstitution - coding silent
DNMT3BENSG00000088305ENST00000328111p.W542*c.1626G>ASubstitution - Nonsense
MICAL3ENSG00000243156ENST00000441493p.T1454Kc.4361C>ASubstitution - Missense
CECR5ENSG00000069998ENST00000336737p.S204Nc.611G>ASubstitution - Missense
ENSG00000091436ENST00000338983p.A111Dc.332C>ASubstitution - Missense
ENSG00000091436ENST00000409176p.A111Dc.332C>ASubstitution - Missense
DLX2ENSG00000115844ENST00000234198p.Q163Qc.489G>ASubstitution - coding silent
RANBP1ENSG00000099901ENST00000331821p.P112Ac.334C>GSubstitution - Missense
TANGO2ENSG00000183597ENST00000434570p.V31Mc.91G>ASubstitution - Missense
KIAA1715ENSG00000144320ENST00000272748p.A427Tc.1279G>ASubstitution - Missense
PDE11AENSG00000128655ENST00000286063p.G90Gc.270C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.A29975Vc.89924C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.A23670Vc.71009C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.G25265Dc.75794G>ASubstitution - Missense
ENST00000356127p.G31635Dc.94904G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.A19601Vc.58802C>TSubstitution - Missense
ENST00000356127p.A25971Vc.77912C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.V27236Vc.81708C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.V20931Vc.62793C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.T20953Ic.62858C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.T14581Ic.43742C>TSubstitution - Missense
ENST00000356127p.T20951Ic.62852C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.T14648Ic.43943C>TSubstitution - Missense
NM_003319p.T14456Ic.43367C>TSubstitution - Missense
ENST00000356127p.G17975Dc.53924G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.G11672Dc.35015G>ASubstitution - Missense
NM_003319p.G11480Dc.34439G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.A19576Tc.58726G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.A13204Tc.39610G>ASubstitution - Missense
ENST00000356127p.A19574Tc.58720G>ASubstitution - Missense
NM_003319p.A13079Tc.39235G>ASubstitution - Missense
PBRM1ENSG00000163939ENST00000337303p.E226Gc.677A>GSubstitution - Missense
STAB1ENSG00000010327ENST00000321725p.P1913Lc.5738C>TSubstitution - Missense
STAB1ENSG00000010327ENST00000321725p.C2021Yc.6062G>ASubstitution - Missense
NT5DC2ENSG00000168268ENST00000307076p.?c.1237-1G>TUnknown
NT5DC2ENSG00000168268ENST00000307076p.Q149Qc.447G>ASubstitution - coding silent
STAB1ENSG00000010327ENST00000321725p.H788Yc.2362C>TSubstitution - Missense
NUP153ENSG00000124789ENST00000262077p.K812Kc.2436G>ASubstitution - coding silent
TBPENSG00000112592ENST00000230354p.T339Mc.1016C>TSubstitution - Missense
GMDSENSG00000112699ENST00000380815p.S288Tc.862T>ASubstitution - Missense
CDKAL1ENSG00000145996ENST00000378610p.T95Ac.283A>GSubstitution - Missense
WDR91ENSG00000105875ENST00000354475p.N121Yc.361A>TSubstitution - Missense
TMEM140ENSG00000146859ENST00000275767p.A112Vc.335C>TSubstitution - Missense
BTN1A1ENSG00000124557ENST00000244513p.A58Dc.173C>ASubstitution - Missense
HIPK2ENSG00000064393ENST00000406875p.I227Tc.680T>CSubstitution - Missense
ZC3HAV1ENSG00000105939ENST00000242351p.V397Vc.1191G>ASubstitution - coding silent
MGAMENSG00000257335ENST00000475668p.P2368Sc.7102C>TSubstitution - Missense
AGKENSG00000006530ENST00000492693p.*66Lc.197A>TNonstop extension
RAB19ENSG00000146955ENST00000275874p.V250fs*>15c.744delCDeletion - Frameshift
MKRN1ENSG00000133606ENST00000255977p.C284Cc.852C>TSubstitution - coding silent
COL1A2ENSG00000164692ENST00000297268p.A521Dc.1562C>ASubstitution - Missense
SGCEENSG00000127990ENST00000265735p.R24Mc.71G>TSubstitution - Missense
COL1A2ENSG00000164692ENST00000297268p.G490Gc.1470C>TSubstitution - coding silent
RBM48ENSG00000127993ENST00000265732p.A35Gc.104C>GSubstitution - Missense
PEX1ENSG00000127980ENST00000248633p.P991Tc.2971C>ASubstitution - Missense
TRRAPENSG00000196367ENST00000355540p.H3337fs*6c.10004delCDeletion - Frameshift
DYNC1I1ENSG00000158560ENST00000324972p.?c.223+5T>CUnknown
ZNF789ENSG00000198556ENST00000331410p.S83Sc.249C>GSubstitution - coding silent
ARPC1AENSG00000241685ENST00000262942p.R295Cc.883C>TSubstitution - Missense
ARPC1AENSG00000241685ENST00000432884p.R248Cc.742C>TSubstitution - Missense
PLECENSG00000178209ENST00000322810p.C3493Cc.10479C>TSubstitution - coding silent
PLECENSG00000178209ENST00000436759p.C3383Cc.10149C>TSubstitution - coding silent
PLECENSG00000178209ENST00000345136p.C3356Cc.10068C>TSubstitution - coding silent
PLECENSG00000178209ENST00000354958p.C3334Cc.10002C>TSubstitution - coding silent
EPPK1ENSG00000227184ENST00000525985p.S1540Nc.4619G>ASubstitution - Missense
EPPK1ENSG00000227184ENST00000525985p.F842Sc.2525T>CSubstitution - Missense
SU_NRBP2p.W444Rc.1330T>ASubstitution - Missense
FAM83HENSG00000180921ENST00000388913p.?c.737+4C>TUnknown
SLC39A4ENSG00000147804ENST00000276833p.L610Lc.1830G>CSubstitution - coding silent
VPS28ENSG00000160948ENST00000292510p.S64Sc.192C>TSubstitution - coding silent
SLC52A2ENSG00000185803ENST00000329994p.A26Vc.77C>TSubstitution - Missense
SLC52A2ENSG00000185803ENST00000329994p.G281Vc.842G>TSubstitution - Missense
CPSF1ENSG00000071894ENST00000349769p.R789Wc.2365C>TSubstitution - Missense
CPSF1ENSG00000071894ENST00000349769p.T606Tc.1818G>ASubstitution - coding silent
HSF1ENSG00000185122ENST00000528838p.T31Tc.93C>TSubstitution - coding silent
GPAA1ENSG00000197858ENST00000355091p.L339Lc.1017G>ASubstitution - coding silent
NM_004260.1p.L885Lc.2655T>ASubstitution - coding silent
ENST00000292520p.H59Yc.175C>TSubstitution - Missense
TONSLENSG00000160949ENST00000409379p.L1219Lc.3655C>TSubstitution - coding silent
ENST00000292520p.L1060Lc.3178C>TSubstitution - coding silent
TONSLENSG00000160949ENST00000409379p.A1155Ac.3465C>GSubstitution - coding silent
ENST00000292520p.A996Ac.2988C>GSubstitution - coding silent
TONSLENSG00000160949ENST00000409379p.D991Ec.2973C>ASubstitution - Missense
PSD3ENSG00000156011ENST00000286485p.C132Yc.395G>ASubstitution - Missense
PSD3ENSG00000156011ENST00000327040p.E418*c.1252G>TSubstitution - Nonsense
ZDHHC2ENSG00000104219ENST00000262096p.C163Fc.488G>TSubstitution - Missense
NCOA2ENSG00000140396ENST00000452400p.?c.86+7T>GUnknown
SU_SgK223p.P1239Pc.3717C>TSubstitution - coding silent
ZFHX4ENSG00000091656ENST00000521891p.S2805Sc.8415G>ASubstitution - coding silent
EPG5ENSG00000152223ENST00000282041p.C2038Rc.6112T>CSubstitution - Missense
SLC14A2ENSG00000132874ENST00000255226p.Q367*c.1099C>TSubstitution - Nonsense
ENSG00000182319ENST00000330777p.S784Nc.2351G>ASubstitution - Missense
ACAA2ENSG00000167315ENST00000285093p.G213fs*43c.636_637insAInsertion - Frameshift
ZBTB7CENSG00000184828ENST00000332053p.K428Kc.1284G>ASubstitution - coding silent
CTIFENSG00000134030ENST00000256413p.?c.1581+6C>GUnknown
ATP2A3ENSG00000074370ENST00000359983p.R620Rc.1860C>TSubstitution - coding silent
ATP2A3ENSG00000074370ENST00000352011p.R620Rc.1860C>TSubstitution - coding silent
ATP2A3ENSG00000074370ENST00000359983p.G702Gc.2106C>TSubstitution - coding silent
NM_014815.2p.D91fs*18c.271delGDeletion - Frameshift
GSDMBENSG00000073605ENST00000418519p.T169Ic.506C>TSubstitution - Missense
CAMKK1ENSG00000004660ENST00000158166p.Q167*c.499C>TSubstitution - Nonsense
ERBB2ENSG00000141736ENST00000269571p.E936Kc.2806G>ASubstitution - Missense
KRTAP1-1ENSG00000188581ENST00000306271p.R115Cc.343C>TSubstitution - Missense
KRT39ENSG00000196859ENST00000355612p.E135Dc.405G>TSubstitution - Missense
KRT23ENSG00000108244ENST00000209718p.G69Gc.207C>TSubstitution - coding silent
KRT24ENSG00000167916ENST00000264651p.G131Gc.393C>TSubstitution - coding silent
TNS4ENSG00000131746ENST00000254051p.P392Sc.1174C>TSubstitution - Missense
TNS4ENSG00000131746ENST00000254051p.L307Lc.921G>ASubstitution - coding silent
GRIK1ENSG00000171189ENST00000535441p.S906Rc.2716A>CSubstitution - Missense
KRT33BENSG00000131738ENST00000251646p.?c.1098-9G>AUnknown
KRTAP13-2ENSG00000182816ENST00000399889p.A23Ac.69A>TSubstitution - coding silent
SONENSG00000159140ENST00000356577p.G1319Rc.3955G>ASubstitution - Missense
IFNAR2ENSG00000159110ENST00000382241p.G418Gc.1254G>ASubstitution - coding silent
URB1ENSG00000142207ENST00000382751p.A197Ac.591C>ASubstitution - coding silent
RHOHENSG00000168421ENST00000505618p.A145Ac.435C>TSubstitution - coding silent
RHOHENSG00000168421ENST00000505618p.T41Ic.122C>TSubstitution - Missense
PDS5AENSG00000121892ENST00000303538p.T748Ic.2243C>TSubstitution - Missense
FAM114A1ENSG00000197712ENST00000358869p.G235Sc.703G>ASubstitution - Missense
SLC10A4ENSG00000145248ENST00000273861p.A433Tc.1297G>ASubstitution - Missense
FRYLENSG00000075539ENST00000503238p.A2315Vc.6944C>TSubstitution - Missense
CORINENSG00000145244ENST00000273857p.F845Fc.2535C>TSubstitution - coding silent
ATP8A1ENSG00000124406ENST00000381668p.Q43Qc.129G>ASubstitution - coding silent
ATP8A1ENSG00000124406ENST00000264449p.Q43Qc.129G>ASubstitution - coding silent
BEND4ENSG00000188848ENST00000502486p.Q529Rc.1586A>GSubstitution - Missense
BSNENSG00000164061ENST00000296452p.E1061Kc.3181G>ASubstitution - Missense
AMTENSG00000145020ENST00000273588p.C148Cc.444C>TSubstitution - coding silent
USP4ENSG00000114316ENST00000265560p.S189Nc.566G>ASubstitution - Missense
LAMB2ENSG00000172037ENST00000305544p.A1020Tc.3058G>ASubstitution - Missense
HYAL1ENSG00000114378ENST00000395144p.G395Sc.1183G>ASubstitution - Missense
HYAL1ENSG00000114378ENST00000395144p.V351Lc.1051G>TSubstitution - Missense
GNAI2ENSG00000114353ENST00000266027p.A9Tc.25G>ASubstitution - Missense
ENST00000316347p.Q55Qc.165G>ASubstitution - coding silent
ENST00000316347p.T284Mc.851C>TSubstitution - Missense
LSMEM2ENSG00000179564ENST00000316436p.L79Lc.237G>ASubstitution - coding silent
IFRD2ENSG00000214706ENST00000336089p.S97Ic.290G>TSubstitution - Missense
HYAL3ENSG00000186792ENST00000336307p.W135*c.405G>ASubstitution - Nonsense
CAMKVENSG00000164076ENST00000477224p.D228Yc.682G>TSubstitution - Missense
TRAIPENSG00000183763ENST00000331456p.G422Gc.1266C>TSubstitution - coding silent
APEHENSG00000164062ENST00000296456p.Y43Cc.128A>GSubstitution - Missense
MST1ENSG00000173531ENST00000449682p.L489Lc.1467G>ASubstitution - coding silent
MST1ENSG00000173531ENST00000449682p.T159Tc.477G>ASubstitution - coding silent
PARP3ENSG00000041880ENST00000398755p.T196Tc.588G>ASubstitution - coding silent
PARP3ENSG00000041880ENST00000417220p.T189Tc.567G>ASubstitution - coding silent
DOCK3ENSG00000088538ENST00000266037p.P1852fs*45c.5549delCDeletion - Frameshift
NAT6ENSG00000243477ENST00000354862p.I308Ic.924C>ASubstitution - coding silent
ENST00000273600p.?c.2527-9C>AUnknown
DNAH1ENSG00000114841ENST00000420323p.L1794Lc.5382G>ASubstitution - coding silent
ENST00000273600p.L1794Lc.5382G>ASubstitution - coding silent
ENST00000273600p.?c.1657-10G>AUnknown
DNAH1ENSG00000114841ENST00000420323p.?c.2527-9C>AUnknown
ALAS1ENSG00000023330ENST00000394965p.T383Tc.1149T>CSubstitution - coding silent
TLR9ENSG00000239732ENST00000360658p.L422Lc.1266G>ASubstitution - coding silent
TWF2ENSG00000247596ENST00000305533p.G331fs*>19c.992delGDeletion - Frameshift
TWF2ENSG00000247596ENST00000305533p.V25Mc.73G>ASubstitution - Missense
PPM1MENSG00000164088ENST00000409502p.L154Lc.460C>TSubstitution - coding silent
ABHD14AENSG00000248487ENST00000273596p.R158Rc.474G>TSubstitution - coding silent
ACY1ENSG00000243989ENST00000404366p.?c.1062+3G>TUnknown
ACY1ENSG00000243989ENST00000458031p.?c.1332+3G>TUnknown
NM_020418.2p.S286Nc.857G>ASubstitution - Missense
ATOH8ENSG00000168874ENST00000306279p.R66Qc.197G>ASubstitution - Missense
TMEM150AENSG00000168890ENST00000334462p.A150Vc.449C>TSubstitution - Missense
COL6A2ENSG00000142173ENST00000300527p.G953Gc.2859C>TSubstitution - coding silent
COL18A1ENSG00000182871ENST00000359759p.E1176Ec.3528G>ASubstitution - coding silent
SLC19A1ENSG00000173638ENST00000311124p.W273*c.818G>ASubstitution - Nonsense
ENST00000380014p.W20*c.59G>ASubstitution - Nonsense
ADARB1ENSG00000197381ENST00000360697p.L724Lc.2170C>TSubstitution - coding silent
EIF2AK3ENSG00000172071ENST00000303236p.E994Ac.2981A>CSubstitution - Missense
ANKRD36CENSG00000174501ENST00000420871p.E772Kc.2314G>ASubstitution - Missense
KIDINS220ENSG00000134313ENST00000256707p.Q490Qc.1470G>ASubstitution - coding silent
CNNM4ENSG00000158158ENST00000377075p.R599Rc.1797C>TSubstitution - coding silent
ITPRIPL1ENSG00000198885ENST00000361124p.A230Tc.688G>ASubstitution - Missense
SNRNP200ENSG00000144028ENST00000323853p.?c.2742+2_2742+14>CTAUnknown
SNRNP200ENSG00000144028ENST00000323853p.Y861Cc.2582A>GSubstitution - Missense
ADRA2BENSG00000222040ENST00000409345p.C185Yc.554G>ASubstitution - Missense
ADRA2BENSG00000222040ENST00000409345p.C185Yc.554G>ASubstitution - Missense
EBLN2ENSG00000255423ENST00000533473p.R23Kc.68G>ASubstitution - Missense
ANKRD39ENSG00000213337ENST00000393537p.Q24Qc.72G>ASubstitution - coding silent
DHFRL1ENSG00000178700ENST00000394221p.R103*c.307C>TSubstitution - Nonsense
SRGAP3ENSG00000196220ENST00000383836p.G1075Gc.3225C>TSubstitution - coding silent
ROBO1ENSG00000169855ENST00000495273p.G1193Gc.3579C>TSubstitution - coding silent
ROBO1ENSG00000169855ENST00000464233p.G1238Gc.3714C>TSubstitution - coding silent
YTHDC1ENSG00000083896ENST00000344157p.Q60Pc.179A>CSubstitution - Missense
TBC1D14ENSG00000132405ENST00000409757p.E98Kc.292G>ASubstitution - Missense
PARM1ENSG00000169116ENST00000307428p.P151Hc.452C>ASubstitution - Missense
PARM1ENSG00000169116ENST00000307428p.P210Hc.629C>ASubstitution - Missense
AFAP1ENSG00000196526ENST00000420658p.?c.1055-4G>AUnknown
CPLX1ENSG00000168993ENST00000304062p.P127fs*>8c.378delGDeletion - Frameshift
CXCL11ENSG00000169248ENST00000306621p.K4Nc.12G>TSubstitution - Missense
PPLENSG00000118898ENST00000345988p.?c.63-8G>AUnknown
UBN1ENSG00000118900ENST00000396658p.N974Nc.2922C>TSubstitution - coding silent
SEPT12ENSG00000140623ENST00000268231p.N134Dc.400A>GSubstitution - Missense
ROGDIENSG00000067836ENST00000322048p.N191Nc.573C>TSubstitution - coding silent
ABCC12ENSG00000140798ENST00000311303p.T649Tc.1947G>ASubstitution - coding silent
SALL1ENSG00000103449ENST00000251020p.L1297Rc.3890T>GSubstitution - Missense
SEC14L5ENSG00000103184ENST00000251170p.D575Nc.1723G>ASubstitution - Missense
SNX20ENSG00000167208ENST00000330943p.?c.283-7G>AUnknown
SNX20ENSG00000167208ENST00000300590p.C12*c.36C>ASubstitution - Nonsense
SLC6A2ENSG00000103546ENST00000219833p.R607Kc.1820G>ASubstitution - Missense
SLC6A2ENSG00000103546ENST00000379906p.R607Kc.1820G>ASubstitution - Missense
IRX5ENSG00000176842ENST00000394636p.D113Nc.337G>ASubstitution - Missense
NM_025134.3p.A1240Vc.3719C>TSubstitution - Missense
RPGRIP1LENSG00000103494ENST00000379925p.E689*c.2065G>TSubstitution - Nonsense
SALL1ENSG00000103449ENST00000251020p.P855Pc.2565T>GSubstitution - coding silent
HNF1BENSG00000108753ENST00000225893p.P553Hc.1658C>ASubstitution - Missense
CX3CL1ENSG00000006210ENST00000006053p.P171fs*>227c.507delCDeletion - Frameshift
CCL17ENSG00000102970ENST00000219244p.S74Sc.222G>TSubstitution - coding silent
DOK4ENSG00000125170ENST00000340099p.R185Cc.553C>TSubstitution - Missense
NLRC5ENSG00000140853ENST00000262510p.H1520Hc.4560C>TSubstitution - coding silent
CPNE2ENSG00000140848ENST00000290776p.G32Sc.94G>ASubstitution - Missense
SLC12A3ENSG00000070915ENST00000438926p.D848Nc.2542G>ASubstitution - Missense
STARD3ENSG00000131748ENST00000336308p.A293Vc.878C>TSubstitution - Missense
MED1ENSG00000125686ENST00000300651p.A845Tc.2533G>ASubstitution - Missense
NM_016507p.T460Tc.1380T>CSubstitution - coding silent
PLXDC1ENSG00000161381ENST00000315392p.A443Vc.1328C>TSubstitution - Missense
MLLT6ENSG00000108292ENST00000325718p.G533Wc.1597G>TSubstitution - Missense
ITGAEENSG00000083457ENST00000263087p.R576Hc.1727G>ASubstitution - Missense
ITGAEENSG00000083457ENST00000263087p.T279Tc.837C>ASubstitution - coding silent
XM_290799.5p.E1425Kc.4273G>ASubstitution - Missense
ATP2A3ENSG00000074370ENST00000352011p.A240Ac.720G>TSubstitution - coding silent
ATP2A3ENSG00000074370ENST00000359983p.M239Ic.717G>TSubstitution - Missense
ATP2A3ENSG00000074370ENST00000352011p.M239Ic.717G>TSubstitution - Missense
RARAENSG00000131759ENST00000254066p.D421Dc.1263C>TSubstitution - coding silent
RARAENSG00000131759ENST00000394081p.D416Dc.1248C>TSubstitution - coding silent
C17orf62ENSG00000178927ENST00000342572p.S43Sc.129G>ASubstitution - coding silent
DSG4ENSG00000175065ENST00000359747p.T1002Sc.3005C>GSubstitution - Missense
DSG4ENSG00000175065ENST00000308128p.T983Sc.2948C>GSubstitution - Missense
EMILIN2ENSG00000132205ENST00000254528p.?c.257+1G>TUnknown
SMCHD1ENSG00000101596ENST00000320876p.R719Kc.2156G>ASubstitution - Missense
ASXL3ENSG00000141431ENST00000269197p.Q931*c.2791C>TSubstitution - Nonsense
B4GALT6ENSG00000118276ENST00000306851p.H177fs*19c.517_518insTInsertion - Frameshift
ENST00000269205_v65p.I267fs*9c.799delADeletion - Frameshift
LPIN2ENSG00000101577ENST00000261596p.A367Tc.1099G>ASubstitution - Missense
ASXL3ENSG00000141431ENST00000269197p.S1386Fc.4157C>TSubstitution - Missense
SLC14A2ENSG00000132874ENST00000255226p.S137Rc.411C>ASubstitution - Missense
ABCA7ENSG00000064687ENST00000263094p.I867Ic.2601C>ASubstitution - coding silent
PDE4AENSG00000065989ENST00000352831p.R20Pc.59G>CSubstitution - Missense
PDE4AENSG00000065989ENST00000293683p.P55Pc.165G>ASubstitution - coding silent
ABCA7ENSG00000064687ENST00000263094p.L1216Lc.3646C>TSubstitution - coding silent
CELF4ENSG00000101489ENST00000361795p.A455Sc.1363G>TSubstitution - Missense
LDLRENSG00000130164ENST00000558518p.F530Fc.1590C>TSubstitution - coding silent
LDLRENSG00000130164ENST00000558518p.W165*c.494G>ASubstitution - Nonsense
SBNO2ENSG00000064932ENST00000361757p.S804Lc.2411C>TSubstitution - Missense
ENST00000250872p.?c.2400+4C>TUnknown
SMARCA4ENSG00000127616ENST00000358026p.?c.355+6G>AUnknown
SMARCA4ENSG00000127616ENST00000429416p.?c.355+6G>AUnknown
SMARCA4ENSG00000127616ENST00000429416p.A321Tc.961G>ASubstitution - Missense
POLR2EENSG00000099817ENST00000215587p.T140Tc.420G>ASubstitution - coding silent
POLR2EENSG00000099817ENST00000215587p.E4Dc.12G>TSubstitution - Missense
HMHA1ENSG00000180448ENST00000313093p.?c.1512+1G>TUnknown
S1PR5ENSG00000180739ENST00000333430p.A38Vc.113C>TSubstitution - Missense
KEAP1ENSG00000079999ENST00000393623p.V253Vc.759C>ASubstitution - coding silent
KEAP1ENSG00000079999ENST00000393623p.Q22Hc.66G>CSubstitution - Missense
PDE4AENSG00000065989ENST00000293683p.L379Vc.1135C>GSubstitution - Missense
PDE4AENSG00000065989ENST00000440014p.L344Vc.1030C>GSubstitution - Missense
C19orf26ENSG00000099625ENST00000382477p.A371Sc.1111G>TSubstitution - Missense
ECSITENSG00000130159ENST00000270517p.?c.796+8C>TUnknown
GCDHENSG00000105607ENST00000222214p.M339Ic.1017G>ASubstitution - Missense
GCDHENSG00000105607ENST00000457854p.M339Ic.1017G>ASubstitution - Missense
GCDHENSG00000105607ENST00000222214p.N392fs*9c.1167delGDeletion - Frameshift
MAST1ENSG00000105613ENST00000251472p.T991Mc.2972C>TSubstitution - Missense
MAST1ENSG00000105613ENST00000251472p.T991Mc.2972C>TSubstitution - Missense
HOOK2ENSG00000095066ENST00000397668p.C125*c.375C>ASubstitution - Nonsense
MAST1ENSG00000105613ENST00000251472p.Y564*c.1692C>ASubstitution - Nonsense
HOOK2ENSG00000095066ENST00000397668p.A678Vc.2033C>TSubstitution - Missense
HOOK2ENSG00000095066ENST00000397668p.R577Qc.1730G>ASubstitution - Missense
TNPO2ENSG00000105576ENST00000425528p.A847Tc.2539G>ASubstitution - Missense
TNPO2ENSG00000105576ENST00000441499p.A837Tc.2509G>ASubstitution - Missense
MAN2B1ENSG00000104774ENST00000221363p.V513Ic.1537G>ASubstitution - Missense
ATP5DENSG00000099624ENST00000395633p.A130Tc.388G>ASubstitution - Missense
CACNA1AENSG00000141837ENST00000360228p.G850Sc.2548G>ASubstitution - Missense
ENST00000325084p.M1618Ic.4854G>TSubstitution - Missense
CACNA1AENSG00000141837ENST00000360228p.M1617Ic.4851G>TSubstitution - Missense
STX10ENSG00000104915ENST00000242770p.A141Vc.422C>TSubstitution - Missense
ENST00000357018p.?c.5252+8G>CUnknown
GADD45GIP1ENSG00000179271ENST00000316939p.G65Rc.193G>CSubstitution - Missense
RIPK4ENSG00000183421ENST00000352483p.A502Tc.1504G>ASubstitution - Missense
RIPK4ENSG00000183421ENST00000332512p.D404Ec.1212C>ASubstitution - Missense
DSCAMENSG00000171587ENST00000400454p.T1004Ic.3011C>TSubstitution - Missense
LCA5LENSG00000157578ENST00000380671p.I278fs*8c.832delADeletion - Frameshift
UBASH3AENSG00000160185ENST00000319294p.L552Lc.1656C>ASubstitution - coding silent
ABCG1ENSG00000160179ENST00000361802p.C302Yc.905G>ASubstitution - Missense
ABCG1ENSG00000160179ENST00000398457p.C304Yc.911G>ASubstitution - Missense
ABCG1ENSG00000160179ENST00000398457p.A345Vc.1034C>TSubstitution - Missense
PRDM15ENSG00000141956ENST00000269844p.D1476Nc.4426G>ASubstitution - Missense
POFUT2ENSG00000186866ENST00000331343p.T383Mc.1148C>TSubstitution - Missense
ITGB2ENSG00000160255ENST00000397852p.?c.1084-3C>TUnknown
KRTAP10-1ENSG00000215455ENST00000400375p.C57Yc.170G>ASubstitution - Missense
ICAM2ENSG00000108622ENST00000449662p.L117Pc.350T>CSubstitution - Missense
CACNG1ENSG00000108878ENST00000226021p.?c.229+8A>GUnknown
RGS9ENSG00000108370ENST00000262406p.T105Ac.313A>GSubstitution - Missense
HIC1ENSG00000177374ENST00000399849p.L27Lc.81G>ASubstitution - coding silent
BPTFENSG00000171634ENST00000306378p.L687Lc.2061G>ASubstitution - coding silent
NOL11ENSG00000130935ENST00000253247p.C560Yc.1679G>ASubstitution - Missense
TSR1ENSG00000167721ENST00000301364p.?c.2237-8C>AUnknown
SUPT6HENSG00000109111ENST00000314616p.A1106Tc.3316G>ASubstitution - Missense
FOXN1ENSG00000109101ENST00000579795p.P583fs*5c.1743delCDeletion - Frameshift
SARM1ENSG00000004139ENST00000457710p.R510Hc.1529G>ASubstitution - Missense
SU_KSR1p.R563Hc.1688G>ASubstitution - Missense
DHRS13ENSG00000167536ENST00000378895p.V18fs*71c.49_50insTInsertion - Frameshift
RAB34ENSG00000109113ENST00000453384p.R92Hc.275G>ASubstitution - Missense
RAB34ENSG00000109113ENST00000301043p.R35Hc.104G>ASubstitution - Missense
XM_043272.9p.R1126Qc.3377G>ASubstitution - Missense
GOSR1ENSG00000108587ENST00000225724p.T125fs*23c.369_370insAInsertion - Frameshift
ANKRD13BENSG00000198720ENST00000394859p.?c.1258+1G>AUnknown
ANKRD13BENSG00000198720ENST00000394859p.?c.1576-4G>AUnknown
GIT1ENSG00000108262ENST00000225394p.L367Pc.1100T>CSubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.T851fs*88c.2550delGDeletion - Frameshift
MYO18AENSG00000196535ENST00000527372p.T851fs*88c.2550delGDeletion - Frameshift
MYO18AENSG00000196535ENST00000527372p.G108Gc.324T>CSubstitution - coding silent
KCNAB3ENSG00000170049ENST00000303790p.E169Kc.505G>ASubstitution - Missense
ENST00000411702p.L2624Lc.7872G>ASubstitution - coding silent
SGSHENSG00000181523ENST00000326317p.L343fs*159c.1027_1028insCInsertion - Frameshift
CHD3ENSG00000170004ENST00000330494p.P1967Lc.5900C>TSubstitution - Missense
CCDC40ENSG00000141519ENST00000269318p.D573Yc.1717G>TSubstitution - Missense
TMEM88ENSG00000167874ENST00000301599p.V100Mc.298G>ASubstitution - Missense
DNAH2ENSG00000183914ENST00000389173p.P4108fs*54c.12318delCDeletion - Frameshift
XM_043272.9p.G280Gc.840G>ASubstitution - coding silent
C17orf70ENSG00000185504ENST00000327787p.Q484Kc.1450C>ASubstitution - Missense
ENST00000436173p.V1899Ic.5695G>ASubstitution - Missense
AATKENSG00000181409ENST00000326724p.S307Sc.921C>TSubstitution - coding silent
AATKENSG00000181409ENST00000326724p.S307Sc.921C>TSubstitution - coding silent
CHMP6ENSG00000176108ENST00000325167p.E85Kc.253G>ASubstitution - Missense
NM_021628.1p.G359Wc.1075G>TSubstitution - Missense
ENST00000445854p.E33Dc.99G>TSubstitution - Missense
ENST00000445854p.M1Ic.3G>ASubstitution - Missense
FASNENSG00000169710ENST00000306749p.L1633Lc.4899C>GSubstitution - coding silent
FASNENSG00000169710ENST00000306749p.A1554Pc.4660G>CSubstitution - Missense
FASNENSG00000169710ENST00000306749p.R1131Sc.3391C>ASubstitution - Missense
FASNENSG00000169710ENST00000306749p.?c.2786-3C>TUnknown
FASNENSG00000169710ENST00000306749p.L83Lc.247C>TSubstitution - coding silent
ENST00000324808p.T291Sc.872C>GSubstitution - Missense
DUS1LENSG00000169718ENST00000306796p.?c.698-3_698-2delcaUnknown
FASNENSG00000169710ENST00000306749p.Q2409*c.7225C>TSubstitution - Nonsense
FASNENSG00000169710ENST00000306749p.H2103Qc.6309C>GSubstitution - Missense
FASNENSG00000169710ENST00000306749p.R1921Rc.5763G>TSubstitution - coding silent
ENST00000330917p.V159Vc.477G>ASubstitution - coding silent
LRRC45ENSG00000169683ENST00000306688p.G95Dc.284G>ASubstitution - Missense
DCXRENSG00000169738ENST00000306869p.?c.632-8G>AUnknown
MAFGENSG00000197063ENST00000357736p.A84Vc.251C>TSubstitution - Missense
MYADML2ENSG00000185105ENST00000330655p.G154fs*3c.459delCDeletion - Frameshift
HGSENSG00000185359ENST00000329138p.A568Ac.1704C>TSubstitution - coding silent
ARHGDIAENSG00000141522ENST00000269321p.Q13Qc.39G>ASubstitution - coding silent
PSMA8ENSG00000154611ENST00000308268p.?c.616-6C>TUnknown
OSBPL1AENSG00000141447ENST00000319481p.?c.1092+7A>TUnknown
TBCDENSG00000141556ENST00000355528p.R454Qc.1361G>ASubstitution - Missense
TBCDENSG00000141556ENST00000355528p.C899Yc.2696G>ASubstitution - Missense
VAMP2ENSG00000220205ENST00000316509p.T7Rc.20C>GSubstitution - Missense
FN3KENSG00000167363ENST00000300784p.P71Rc.212C>GSubstitution - Missense
FOXK2ENSG00000141568ENST00000335255p.E97Ec.291G>ASubstitution - coding silent
HEXDCENSG00000169660ENST00000337014p.Y301Yc.903C>TSubstitution - coding silent
HEXDCENSG00000169660ENST00000337014p.S486Rc.1458C>ASubstitution - Missense
RECKENSG00000122707ENST00000377966p.V760Vc.2280A>GSubstitution - coding silent
ENST00000423537_v68p.A240Vc.719C>TSubstitution - Missense
ANKRD18AENSG00000180071ENST00000399703p.R578Ic.1733G>TSubstitution - Missense
PRKACGENSG00000165059ENST00000377276p.D113Nc.337G>ASubstitution - Missense
GLDCENSG00000178445ENST00000321612p.A833Vc.2498C>TSubstitution - Missense
KANK1ENSG00000107104ENST00000382303p.?c.3897+1G>AUnknown
KANK1ENSG00000107104ENST00000382286p.?c.633+1G>AUnknown
CACNA1DENSG00000157388ENST00000350061p.D1901Nc.5701G>ASubstitution - Missense
CACNA1DENSG00000157388ENST00000350061p.V397Ic.1189G>ASubstitution - Missense
ITIH4ENSG00000055955ENST00000266041p.E255Ec.765G>ASubstitution - coding silent
SFMBT1ENSG00000163935ENST00000394750p.?c.365-10C>TUnknown
PRKCDENSG00000163932ENST00000394729p.A8Tc.22G>ASubstitution - Missense
PRKCDENSG00000163932ENST00000394729p.A195Vc.584C>TSubstitution - Missense
PRKCDENSG00000163932ENST00000394729p.I196Ic.588C>TSubstitution - coding silent
PRKCDENSG00000163932ENST00000394729p.I196Ic.588C>TSubstitution - coding silent
ITIH1ENSG00000055957ENST00000273283p.G774Rc.2320G>ASubstitution - Missense
FLNBENSG00000136068ENST00000295956p.?c.7417+5C>GUnknown
DNAH12ENSG00000174844ENST00000351747p.R1097fs*27c.3290delGDeletion - Frameshift
ARHGEF3ENSG00000163947ENST00000413728p.E131*c.391G>TSubstitution - Nonsense
ARHGEF3ENSG00000163947ENST00000338458p.S11Sc.33C>TSubstitution - coding silent
ARHGEF3ENSG00000163947ENST00000413728p.L392Lc.1174C>TSubstitution - coding silent
ARHGEF3ENSG00000163947ENST00000296315p.L386Lc.1156C>TSubstitution - coding silent
ARHGEF3ENSG00000163947ENST00000296315p.L386Lc.1156C>TSubstitution - coding silent
CCDC66ENSG00000180376ENST00000394672p.D589Nc.1765G>ASubstitution - Missense
PTPRGENSG00000144724ENST00000474889p.P1346Pc.4038C>TSubstitution - coding silent
ABHD6ENSG00000163686ENST00000295962p.?c.737-4C>TUnknown
AF381545.1p.I659Ic.1977C>ASubstitution - coding silent
ZNF596ENSG00000172748ENST00000308811p.C253Cc.759T>CSubstitution - coding silent
FRMD4BENSG00000114541ENST00000398540p.A893Ac.2679C>ASubstitution - coding silent
PPP3CCENSG00000120910ENST00000240139p.E33fs*1c.93_94insTInsertion - Frameshift
SORBS3ENSG00000120896ENST00000240123p.?c.584+10G>AUnknown
SORBS3ENSG00000120896ENST00000240123p.A375Tc.1123G>ASubstitution - Missense
CCAR2ENSG00000158941ENST00000389279p.K112Nc.336G>TSubstitution - Missense
BMP1ENSG00000168487ENST00000354870p.S285fs*>18c.850delCDeletion - Frameshift
HRENSG00000168453ENST00000381418p.D703fs*199c.2103delCDeletion - Frameshift
DMTNENSG00000158856ENST00000265800p.P344Pc.1032C>GSubstitution - coding silent
CHRNA2ENSG00000120903ENST00000407991p.V171Mc.511G>ASubstitution - Missense
PPP2R2AENSG00000221914ENST00000380737p.M315Ic.945G>CSubstitution - Missense
SLC25A37ENSG00000147454ENST00000519973p.V107Ic.319G>ASubstitution - Missense
KIF13BENSG00000197892ENST00000524189p.S858Sc.2574C>ASubstitution - coding silent
SLC26A7ENSG00000147606ENST00000309536p.K418Kc.1254G>ASubstitution - coding silent
SLC26A7ENSG00000147606ENST00000276609p.K418Kc.1254G>ASubstitution - coding silent
CNGB3ENSG00000170289ENST00000320005p.A368Vc.1103C>TSubstitution - Missense
GEMENSG00000164949ENST00000396194p.R176Hc.527G>ASubstitution - Missense
PDP1ENSG00000164951ENST00000396200p.S43Sc.129C>TSubstitution - coding silent
RUNX1T1ENSG00000079102ENST00000436581p.P303Hc.908C>ASubstitution - Missense
RUNX1T1ENSG00000079102ENST00000265814p.P292Hc.875C>ASubstitution - Missense
RUNX1T1ENSG00000079102ENST00000360348p.P255Hc.764C>ASubstitution - Missense
TNKSENSG00000173273ENST00000310430p.Y1243Yc.3729T>CSubstitution - coding silent
INTS8ENSG00000164941ENST00000523731p.L993Lc.2979T>CSubstitution - coding silent
KIAA1429ENSG00000164944ENST00000421249p.E21Gc.62A>GSubstitution - Missense
CCDC180ENSG00000197816ENST00000375202p.Q1683Rc.5048A>GSubstitution - Missense
TSTD2ENSG00000136925ENST00000341170p.C310Yc.929G>ASubstitution - Missense
MED13ENSG00000108510ENST00000397786p.E463delEc.1387_1389delGAADeletion - In frame
MED13ENSG00000108510ENST00000397786p.A1632Tc.4894G>ASubstitution - Missense
BRIP1ENSG00000136492ENST00000259008p.S38Nc.113G>ASubstitution - Missense
BRIP1ENSG00000136492ENST00000259008p.S38Nc.113G>ASubstitution - Missense
ACEENSG00000159640ENST00000290866p.H1031Yc.3091C>TSubstitution - Missense
ACEENSG00000159640ENST00000290863p.H457Yc.1369C>TSubstitution - Missense
ACEENSG00000159640ENST00000290866p.H435Hc.1305C>TSubstitution - coding silent
ACEENSG00000159640ENST00000290863p.M1Ic.3G>ASubstitution - Missense
ACEENSG00000159640ENST00000490216p.M1Ic.3G>ASubstitution - Missense
ENST00000389520_v65p.P59Lc.176C>TSubstitution - Missense
MRC2ENSG00000011028ENST00000303375p.S1086Lc.3257C>TSubstitution - Missense
RPS11ENSG00000142534ENST00000270625p.?c.353+8C>TUnknown
CD37ENSG00000104894ENST00000323906p.E136Kc.406G>ASubstitution - Missense
TEAD2ENSG00000074219ENST00000311227p.G292Ac.875G>CSubstitution - Missense
KCNA7ENSG00000104848ENST00000221444p.T304Tc.912G>ASubstitution - coding silent
ENST00000253720p.H119Nc.355C>ASubstitution - Missense
IL4I1ENSG00000104951ENST00000341114p.S588Sc.1764G>ASubstitution - coding silent
IL4I1ENSG00000104951ENST00000341114p.P327Hc.980C>ASubstitution - Missense
MED25ENSG00000104973ENST00000312865p.S348Fc.1043C>TSubstitution - Missense
SIGLEC10ENSG00000142512ENST00000439889p.L612Fc.1834C>TSubstitution - Missense
SNTA1ENSG00000101400ENST00000217381p.?c.702-10G>AUnknown
LILRA2ENSG00000239998ENST00000251376p.S456Nc.1367G>ASubstitution - Missense
SIGLEC8ENSG00000105366ENST00000321424p.S195Sc.585C>TSubstitution - coding silent
LILRA5ENSG00000187116ENST00000301219p.R115Hc.344G>ASubstitution - Missense
PIGUENSG00000101464ENST00000217446p.?c.627+10T>CUnknown
DSN1ENSG00000149636ENST00000373750p.L220*c.659T>ASubstitution - Nonsense
C20orf173ENSG00000125975ENST00000444723p.C44Cc.132C>TSubstitution - coding silent
SLC9A8ENSG00000197818ENST00000417961p.P390Sc.1168C>TSubstitution - Missense
SLC9A8ENSG00000197818ENST00000361573p.P374Sc.1120C>TSubstitution - Missense
STAU1ENSG00000124214ENST00000371856p.P446Lc.1337C>TSubstitution - Missense
SIGLEC1ENSG00000088827ENST00000344754p.Y164Yc.492C>TSubstitution - coding silent
SIGLEC1ENSG00000088827ENST00000202578p.Y164Yc.492C>TSubstitution - coding silent
ZFP64ENSG00000020256ENST00000216923p.V482Mc.1444G>ASubstitution - Missense
ZFP64ENSG00000020256ENST00000216923p.V482Mc.1444G>ASubstitution - Missense
ADNPENSG00000101126ENST00000349014p.A528Vc.1583C>TSubstitution - Missense
C20orf85ENSG00000124237ENST00000371168p.M14Vc.40A>GSubstitution - Missense
ZNF217ENSG00000171940ENST00000371471p.L557Lc.1671G>ASubstitution - coding silent
ZNF217ENSG00000171940ENST00000371471p.L557Lc.1671G>ASubstitution - coding silent
CDH4ENSG00000179242ENST00000360469p.G843Sc.2527G>ASubstitution - Missense
LSM14BENSG00000149657ENST00000279068p.P113Sc.337C>TSubstitution - Missense
LSM14BENSG00000149657ENST00000279068p.P113Sc.337C>TSubstitution - Missense
CDH26ENSG00000124215ENST00000348616p.G6Rc.16G>ASubstitution - Missense
CDH26ENSG00000124215ENST00000244047p.G6Rc.16G>ASubstitution - Missense
HYAL4ENSG00000106302ENST00000223026p.A51Sc.151G>TSubstitution - Missense
SLC13A1ENSG00000081800ENST00000194130p.T408Tc.1224A>GSubstitution - coding silent
CADPS2ENSG00000081803ENST00000449022p.R125Wc.373C>TSubstitution - Missense
AASSENSG00000008311ENST00000393376p.?c.1655+4A>GUnknown
FAM3CENSG00000196937ENST00000359943p.V106Ic.316G>ASubstitution - Missense
FLNCENSG00000128591ENST00000325888p.V1862Ic.5584G>ASubstitution - Missense
FLNCENSG00000128591ENST00000325888p.R2364Rc.7092C>TSubstitution - coding silent
PLXNA4ENSG00000221866ENST00000321063p.A1549Vc.4646C>TSubstitution - Missense
KCNV2ENSG00000168263ENST00000382082p.P178Pc.534G>ASubstitution - coding silent
EXOC4ENSG00000131558ENST00000545148p.T228Tc.684C>ASubstitution - coding silent
PLXNA4ENSG00000221866ENST00000321063p.R99Hc.296G>ASubstitution - Missense
SPINK4ENSG00000122711ENST00000379725p.G4Gc.12C>TSubstitution - coding silent
NFX1ENSG00000086102ENST00000379540p.C469Yc.1406G>ASubstitution - Missense
ACO1ENSG00000122729ENST00000309951p.A432Vc.1295C>TSubstitution - Missense
ACO1ENSG00000122729ENST00000379923p.C437Yc.1310G>ASubstitution - Missense
RFX3ENSG00000080298ENST00000382004p.G673Cc.2017G>TSubstitution - Missense
C9orf131ENSG00000174038ENST00000312292p.G16Rc.46G>ASubstitution - Missense
DCTN3ENSG00000137100ENST00000341694p.P139Ac.415C>GSubstitution - Missense
IL11RAENSG00000137070ENST00000555003p.A18Tc.52G>ASubstitution - Missense
C9orf24ENSG00000164972ENST00000297623p.L239Lc.715C>TSubstitution - coding silent
C9orf24ENSG00000164972ENST00000379126p.P52Pc.156C>TSubstitution - coding silent
SPAG8ENSG00000137098ENST00000340291p.E2Ec.6G>ASubstitution - coding silent
SPAG8ENSG00000137098ENST00000396638p.E2Ec.6G>ASubstitution - coding silent
CCDC107ENSG00000159884ENST00000426546p.L66Mc.196C>ASubstitution - Missense
CCDC107ENSG00000159884ENST00000421582p.L66Mc.196C>ASubstitution - Missense
TPM2ENSG00000198467ENST00000360958p.D212Dc.636C>TSubstitution - coding silent
TPM2ENSG00000198467ENST00000378292p.L110Lc.330G>ASubstitution - coding silent
VCPENSG00000165280ENST00000358901p.D431Gc.1292A>GSubstitution - Missense
FANCGENSG00000221829ENST00000378643p.S387fs*16c.1158delCDeletion - Frameshift
FANCGENSG00000221829ENST00000378643p.T357Tc.1071G>ASubstitution - coding silent
ENST00000291050p.S105Cc.314C>GSubstitution - Missense
XM_291314.4p.R854Wc.2560C>TSubstitution - Missense
LLGL1ENSG00000131899ENST00000316843p.A466Vc.1397C>TSubstitution - Missense
FLIIENSG00000177731ENST00000327031p.?c.1935-6G>AUnknown
FLIIENSG00000177731ENST00000327031p.S450Lc.1349C>TSubstitution - Missense
POLR2AENSG00000181222ENST00000322644p.A1588Ac.4764C>ASubstitution - coding silent
XM_290732.4p.Q345Kc.1033C>ASubstitution - Missense
EXOC7ENSG00000182473ENST00000357231p.H527Qc.1581C>ASubstitution - Missense
EXOC7ENSG00000182473ENST00000357231p.V448Ic.1342G>ASubstitution - Missense
SRP68ENSG00000167881ENST00000307877p.R311Cc.931C>TSubstitution - Missense
POLR2AENSG00000181222ENST00000322644p.V901Ic.2701G>ASubstitution - Missense
EVPLENSG00000167880ENST00000301607p.Q1676fs*105c.5026delCDeletion - Frameshift
EVPLENSG00000167880ENST00000301607p.L1149Lc.3447C>TSubstitution - coding silent
EVPLENSG00000167880ENST00000301607p.A1104Ac.3312G>ASubstitution - coding silent
FBF1ENSG00000188878ENST00000319129p.F889Fc.2667C>TSubstitution - coding silent
FBF1ENSG00000188878ENST00000319129p.?c.126-4G>AUnknown
ACOX1ENSG00000161533ENST00000293217p.P168Pc.504T>GSubstitution - coding silent
ACOX1ENSG00000161533ENST00000301608p.P168Pc.504T>GSubstitution - coding silent
UNC13DENSG00000092929ENST00000207549p.L113Qc.338T>ASubstitution - Missense
SLC35G6ENSG00000259224ENST00000412468p.G91Dc.272G>ASubstitution - Missense
SLC35G6ENSG00000259224ENST00000412468p.R101Qc.302G>ASubstitution - Missense
TRIM65ENSG00000141569ENST00000269383p.Q151Hc.453G>TSubstitution - Missense
MRPL38ENSG00000204316ENST00000309352p.R299Hc.896G>ASubstitution - Missense
ENST00000326348p.Q179*c.535C>TSubstitution - Nonsense
UNC13DENSG00000092929ENST00000207549p.P265Pc.795C>TSubstitution - coding silent
ITGB4ENSG00000132470ENST00000200181p.G1569Gc.4707C>TSubstitution - coding silent
ITGB4ENSG00000132470ENST00000339591p.G1552Gc.4656C>TSubstitution - coding silent
FXR2ENSG00000129245ENST00000250113p.D9fs*22c.25delGDeletion - Frameshift
SAT2ENSG00000141504ENST00000269298p.A25Ac.75C>TSubstitution - coding silent
EIF4A1ENSG00000161960ENST00000293831p.T138fs*6c.410_411insGInsertion - Frameshift
ST6GALNAC1ENSG00000070526ENST00000156626p.R428Wc.1282C>TSubstitution - Missense
UBE2OENSG00000175931ENST00000319380p.R1107Rc.3321C>ASubstitution - coding silent
USP36ENSG00000055483ENST00000312010p.G818Vc.2453G>TSubstitution - Missense
USP36ENSG00000055483ENST00000312010p.F755fs*142c.2262delCDeletion - Frameshift
ENST00000300671p.E726Gc.2177A>GSubstitution - Missense
ENST00000300671p.?c.12573+4G>TUnknown
ENST00000300671p.R3369Qc.10106G>ASubstitution - Missense
PGS1ENSG00000087157ENST00000262764p.T197Tc.591G>ASubstitution - coding silent
TK1ENSG00000167900ENST00000301634p.C109Cc.327C>TSubstitution - coding silent
ZNF729ENSG00000196350ENST00000357491p.?c.3484+1G>TUnknown
AMHENSG00000104899ENST00000221496p.P443Lc.1328C>TSubstitution - Missense
SF3A2ENSG00000104897ENST00000221494p.D39Dc.117C>TSubstitution - coding silent
ENST00000221482p.D1333Dc.3999T>CSubstitution - coding silent
DOT1LENSG00000104885ENST00000398665p.A1335Tc.4003G>ASubstitution - Missense
ENST00000221482p.A1335Tc.4003G>ASubstitution - Missense
DOT1LENSG00000104885ENST00000398665p.D1333Dc.3999T>CSubstitution - coding silent
ZNF726ENSG00000213967ENST00000322487p.?c.1919+1A>GUnknown
TMPRSS9ENSG00000178297ENST00000332578p.D804Nc.2410G>ASubstitution - Missense
ENST00000452401p.Q470Qc.1410G>ASubstitution - coding silent
C19orf35ENSG00000188305ENST00000342063p.R189Rc.567C>TSubstitution - coding silent
CELF5ENSG00000161082ENST00000292672p.G114Rc.340G>ASubstitution - Missense
MIER2ENSG00000105556ENST00000264819p.S231Nc.692G>ASubstitution - Missense
C19orf12ENSG00000131943ENST00000392278p.?c.194-2_194-1insGGUnknown
GPIENSG00000105220ENST00000356487p.?c.751-5_766>19Unknown
GPIENSG00000105220ENST00000356487p.R370Hc.1109G>ASubstitution - Missense
GPIENSG00000105220ENST00000356487p.I546Ic.1638C>TSubstitution - coding silent
C19orf77ENSG00000095932ENST00000215531p.T128fs*>3c.383delCDeletion - Frameshift
LRP3ENSG00000130881ENST00000253193p.T216fs*119c.640delGDeletion - Frameshift
RHPN2ENSG00000131941ENST00000254260p.N44Tc.131A>CSubstitution - Missense
WDR88ENSG00000166359ENST00000355868p.S157Nc.470G>ASubstitution - Missense
PNKPENSG00000039650ENST00000322344p.?c.1189-10G>AUnknown
ENST00000391849p.?c.687+5delgUnknown
PRR12ENSG00000126464ENST00000418929p.Y1967Yc.5901C>TSubstitution - coding silent
FCGRTENSG00000104870ENST00000221466p.S217Sc.651C>TSubstitution - coding silent
SLC17A7ENSG00000104888ENST00000221485p.N92Dc.274A>GSubstitution - Missense
ALDH16A1ENSG00000161618ENST00000293350p.E318Qc.952G>CSubstitution - Missense
ADAM23ENSG00000114948ENST00000374416p.D702Nc.2104G>ASubstitution - Missense
ERBB4ENSG00000178568ENST00000342788p.G863Ec.2588G>ASubstitution - Missense
ERBB4ENSG00000178568ENST00000402597p.G853Ec.2558G>ASubstitution - Missense
BARD1ENSG00000138376ENST00000260947p.Q177*c.529C>TSubstitution - Nonsense
SNAI2ENSG00000019549ENST00000020945p.Q154Qc.462G>ASubstitution - coding silent
CHD7ENSG00000171316ENST00000423902p.R195Hc.584G>ASubstitution - Missense
RP1ENSG00000104237ENST00000220676p.S1614Nc.4841G>ASubstitution - Missense
RP1ENSG00000104237ENST00000220676p.Q1697Qc.5091G>ASubstitution - coding silent
RP1ENSG00000104237ENST00000220676p.R154fs*75c.452_453insCInsertion - Frameshift
CHD7ENSG00000171316ENST00000423902p.K2244fs*33c.6728delADeletion - Frameshift
CHD7ENSG00000171316ENST00000423902p.L1815Lc.5443C>TSubstitution - coding silent
CSPP1ENSG00000104218ENST00000262210p.R658Gc.1972A>GSubstitution - Missense
ARFGEF1ENSG00000066777ENST00000262215p.P1717Hc.5150C>ASubstitution - Missense
AMOTENSG00000126016ENST00000371959p.G26Gc.78C>TSubstitution - coding silent
HTR2CENSG00000147246ENST00000371951p.Y358fs*30c.1072_1073delTADeletion - Frameshift
TENM1ENSG00000009694ENST00000371130p.S2610Fc.7829C>TSubstitution - Missense
HPRT1ENSG00000165704ENST00000298556p.A214fs*>6c.635_636insAInsertion - Frameshift
IGSF1ENSG00000147255ENST00000361420p.R342Wc.1024C>TSubstitution - Missense
DENND1CENSG00000205744ENST00000381480p.H375Hc.1125C>TSubstitution - coding silent
DENND1CENSG00000205744ENST00000381480p.D75Nc.223G>ASubstitution - Missense
TUBB4AENSG00000104833ENST00000264071p.P160Sc.478C>TSubstitution - Missense
NM_003685.1p.A676Ac.2028C>ASubstitution - coding silent
ENST00000215591p.P46Pc.138C>TSubstitution - coding silent
POLRMTENSG00000099821ENST00000588649p.P61Pc.183C>TSubstitution - coding silent
ENST00000215591p.R860Hc.2579G>ASubstitution - Missense
HCN2ENSG00000099822ENST00000251287p.A363Vc.1088C>TSubstitution - Missense
HCN2ENSG00000099822ENST00000251287p.E644Dc.1932G>TSubstitution - Missense
FCER2ENSG00000104921ENST00000346664p.G256Sc.766G>ASubstitution - Missense
ENST00000446248_v68p.A1213Vc.3638C>TSubstitution - Missense
ENST00000359590p.?c.362-3C>TUnknown
ZNF414ENSG00000133250ENST00000255616p.C198Cc.594C>TSubstitution - coding silent
ZNF414ENSG00000133250ENST00000393927p.C198Cc.594C>TSubstitution - coding silent
ELANEENSG00000197561ENST00000263621p.V77Ic.229G>ASubstitution - Missense
ZNF484ENSG00000127081ENST00000375495p.K375*c.1123A>TSubstitution - Nonsense
SUSD3ENSG00000157303ENST00000375472p.C127Cc.381C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.C13395Cc.40185C>TSubstitution - coding silent
NUTM2FENSG00000130950ENST00000341207p.P294Pc.882G>ASubstitution - coding silent
CDC14BENSG00000081377ENST00000375241p.A306Tc.916G>ASubstitution - Missense
ARMCX6ENSG00000198960ENST00000361910p.P104Sc.310C>TSubstitution - Missense
GLAENSG00000102393ENST00000218516p.Q327*c.979C>TSubstitution - Nonsense
VSIG1ENSG00000101842ENST00000217957p.?c.213+1G>AUnknown
PRPS1ENSG00000147224ENST00000372435p.D183Nc.547G>ASubstitution - Missense
TMEM164ENSG00000157600ENST00000372073p.G86Gc.258C>TSubstitution - coding silent
MYO1CENSG00000197879ENST00000361007p.I272Ic.816C>TSubstitution - coding silent
MYOCDENSG00000141052ENST00000425538p.K124Tc.371A>CSubstitution - Missense
TUSC5ENSG00000184811ENST00000333813p.G68Ec.203G>ASubstitution - Missense
WDR81ENSG00000167716ENST00000437219p.V489Ic.1465G>ASubstitution - Missense
ENST00000470794_v68p.L185Lc.555G>TSubstitution - coding silent
FAM211AENSG00000181350ENST00000470794p.L185Lc.555G>TSubstitution - coding silent
PRPF8ENSG00000174231ENST00000304992p.T2226Kc.6677C>ASubstitution - Missense
INPP5KENSG00000132376ENST00000421807p.L232Lc.694C>TSubstitution - coding silent
INPP5KENSG00000132376ENST00000320345p.L156Lc.466C>TSubstitution - coding silent
RAI1ENSG00000108557ENST00000353383p.L602Lc.1806G>ASubstitution - coding silent
MPRIPENSG00000133030ENST00000341712p.L364fs*19c.1085delCDeletion - Frameshift
WDR81ENSG00000167716ENST00000409644p.V1692Ic.5074G>ASubstitution - Missense
GALK1ENSG00000108479ENST00000225614p.R256Wc.766C>TSubstitution - Missense
H3F3BENSG00000132475ENST00000254810p.?c.283-3C>TUnknown
ITGB4ENSG00000132470ENST00000339591p.S1221Nc.3662G>ASubstitution - Missense
FAM83GENSG00000188522ENST00000345041p.T339Nc.1016C>ASubstitution - Missense
FAM83GENSG00000188522ENST00000345041p.D97Nc.289G>ASubstitution - Missense
FBXW10ENSG00000171931ENST00000395667p.V509Ic.1525G>ASubstitution - Missense
SMCR8ENSG00000176994ENST00000406438p.V81Fc.241G>TSubstitution - Missense
SMCR8ENSG00000176994ENST00000406438p.R346Tc.1037G>CSubstitution - Missense
LGALS9CENSG00000171916ENST00000328114p.P163Pc.489G>ASubstitution - coding silent
WDR59ENSG00000103091ENST00000262144p.G541Rc.1621G>ASubstitution - Missense
ENST00000299644p.V281Fc.841G>TSubstitution - Missense
ENST00000299564p.G403Dc.1208G>ASubstitution - Missense
ENST00000299564p.Y313Yc.939T>CSubstitution - coding silent
NUDT7ENSG00000140876ENST00000268533p.R24*c.70A>TSubstitution - Nonsense
KCNG4ENSG00000168418ENST00000308251p.V265Mc.793G>ASubstitution - Missense
WFDC1ENSG00000103175ENST00000219454p.V138Gc.413T>GSubstitution - Missense
CHTF18ENSG00000127586ENST00000317063p.R390Cc.1168C>TSubstitution - Missense
MSLNLENSG00000162006ENST00000293892p.R69Hc.206G>ASubstitution - Missense
HSD17B2ENSG00000086696ENST00000199936p.P119Tc.355C>ASubstitution - Missense
ENST00000446427p.R469Rc.1407G>ASubstitution - coding silent
SPNS3ENSG00000182557ENST00000355530p.L191Lc.573G>ASubstitution - coding silent
FMNL1ENSG00000184922ENST00000331495p.?c.327+4C>TUnknown
KLHL36ENSG00000135686ENST00000564996p.T31Mc.92C>TSubstitution - Missense
KLHL36ENSG00000135686ENST00000564996p.S539Lc.1616C>TSubstitution - Missense
ADAD2ENSG00000140955ENST00000268624p.T346Tc.1038C>TSubstitution - coding silent
ALOX15ENSG00000161905ENST00000570836p.P617Hc.1850C>ASubstitution - Missense
ALOX15ENSG00000161905ENST00000545513p.P639Hc.1916C>ASubstitution - Missense
MYBBP1AENSG00000132382ENST00000254718p.S957Nc.2870G>ASubstitution - Missense
LRRC37A2ENSG00000238083ENST00000333412p.N1416fs*19c.4244delADeletion - Frameshift
GGT6ENSG00000167741ENST00000574154p.A133Tc.397G>ASubstitution - Missense
GGT6ENSG00000167741ENST00000574154p.V130Fc.388G>TSubstitution - Missense
ENST00000393466p.N1416fs*19c.4244delADeletion - Frameshift
CDK5RAP3ENSG00000108465ENST00000338399p.?c.988+7G>AUnknown
CBX1ENSG00000108468ENST00000393408p.S46Lc.137C>TSubstitution - Missense
SCRN2ENSG00000141295ENST00000290216p.Q58*c.172C>TSubstitution - Nonsense
KPNB1ENSG00000108424ENST00000290158p.I72Fc.214A>TSubstitution - Missense
HOXB8ENSG00000120068ENST00000239144p.S212fs*>33c.627_628insTInsertion - Frameshift
HOXB1ENSG00000120094ENST00000239174p.A118fs*3c.352delGDeletion - Frameshift
HOXB5ENSG00000120075ENST00000239151p.E235Dc.705G>TSubstitution - Missense
HOXB5ENSG00000120075ENST00000239151p.E235*c.703G>TSubstitution - Nonsense
CXCL16ENSG00000161921ENST00000293778p.?c.137-8C>TUnknown
RNF167ENSG00000108523ENST00000571816p.?c.380-4G>AUnknown
GP1BAENSG00000185245ENST00000329125p.L598Lc.1794T>ASubstitution - coding silent
SLC25A11ENSG00000108528ENST00000225665p.W181Lc.542G>TSubstitution - Missense
XYLT2ENSG00000015532ENST00000017003p.A169Tc.505G>ASubstitution - Missense
NGFRENSG00000064300ENST00000172229p.A158Vc.473C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.I7903Mc.23709A>GSubstitution - Missense
ENST00000331986p.I3536Mc.10608A>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.Q108Qc.324G>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.Q108Qc.324G>ASubstitution - coding silent
KISS1RENSG00000116014ENST00000234371p.A317Tc.949G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T424Tc.1272G>CSubstitution - coding silent
WDR18ENSG00000065268ENST00000251289p.L96Lc.286C>TSubstitution - coding silent
ZNF846ENSG00000196605ENST00000397902p.A430Sc.1288G>TSubstitution - Missense
ZNF266ENSG00000174652ENST00000361151p.L227Vc.679C>GSubstitution - Missense
RALGAPA2ENSG00000188559ENST00000202677p.A298Vc.893C>TSubstitution - Missense
CRNKL1ENSG00000101343ENST00000377340p.M319Ic.957G>ASubstitution - Missense
RIN2ENSG00000132669ENST00000255006p.D667Nc.1999G>ASubstitution - Missense
PAX1ENSG00000125813ENST00000398485p.L228Pc.683T>CSubstitution - Missense
NM_006192.1p.L134Pc.401T>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.G1345Gc.4035C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.G1299Gc.3897C>TSubstitution - coding silent
NM_003319p.G1299Gc.3897C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.E1902Dc.5706G>CSubstitution - Missense
NM_003319p.E1902Dc.5706G>CSubstitution - Missense
TTNENSG00000155657ENST00000360870p.E1948Dc.5844G>CSubstitution - Missense
DNAJC10ENSG00000077232ENST00000264065p.T32Ic.95C>TSubstitution - Missense
PARD3BENSG00000116117ENST00000358768p.R1040Qc.3119G>ASubstitution - Missense
PARD3BENSG00000116117ENST00000358768p.R1040Qc.3119G>ASubstitution - Missense
EEF1B2ENSG00000114942ENST00000236957p.I25Ic.75C>TSubstitution - coding silent
PIKFYVEENSG00000115020ENST00000264380p.?c.1637-8G>AUnknown
PIKFYVEENSG00000115020ENST00000264380p.A1827Tc.5479G>ASubstitution - Missense
ADAM23ENSG00000114948ENST00000264377p.D702Nc.2104G>ASubstitution - Missense
VPS13CENSG00000129003ENST00000261517p.V939Ac.2816T>CSubstitution - Missense
VPS13CENSG00000129003ENST00000395896p.A3074Tc.9220G>ASubstitution - Missense
BDKRB1ENSG00000100739ENST00000216629p.T303fs*2c.903_904insTInsertion - Frameshift
ZNF609ENSG00000180357ENST00000326648p.Y983fs*13c.2941delCDeletion - Frameshift
SMAD3ENSG00000166949ENST00000327367p.L153Lc.459G>ASubstitution - coding silent
SMAD3ENSG00000166949ENST00000439724p.L109Lc.327G>ASubstitution - coding silent
DIS3LENSG00000166938ENST00000319194p.I613Ic.1839C>TSubstitution - coding silent
IGDCC4ENSG00000103742ENST00000352385p.K74Kc.222G>ASubstitution - coding silent
CILPENSG00000138615ENST00000261883p.S359Nc.1076G>ASubstitution - Missense
SKOR1ENSG00000188779ENST00000341418p.C396Cc.1188C>TSubstitution - coding silent
IQCHENSG00000103599ENST00000335894p.E944Kc.2830G>ASubstitution - Missense
ZNF326ENSG00000162664ENST00000340281p.N455Kc.1365T>ASubstitution - Missense
THAP10ENSG00000129028ENST00000249861p.I182Vc.544A>GSubstitution - Missense
BCAR3ENSG00000137936ENST00000260502p.L532fs*6c.1594delCDeletion - Frameshift
MTF2ENSG00000143033ENST00000370298p.V516Ic.1546G>ASubstitution - Missense
RPL5ENSG00000122406ENST00000370321p.R68Cc.202C>TSubstitution - Missense
BRDTENSG00000137948ENST00000362005p.R700Ic.2099G>TSubstitution - Missense
HHIPL1ENSG00000182218ENST00000330710p.L171Lc.513G>ASubstitution - coding silent
AGRNENSG00000188157ENST00000379370p.H1645Qc.4935C>ASubstitution - Missense
PIK3CDENSG00000171608ENST00000377346p.A742Vc.2225C>TSubstitution - Missense
AGRNENSG00000188157ENST00000379370p.G890Dc.2669G>ASubstitution - Missense
AGRNENSG00000188157ENST00000379370p.?c.1178-8C>TUnknown
SLC44A3ENSG00000143036ENST00000467909p.L199Fc.597G>TSubstitution - Missense
ABCA4ENSG00000198691ENST00000370225p.E902Ac.2705A>CSubstitution - Missense
ABCA4ENSG00000198691ENST00000370225p.I619Ic.1857C>TSubstitution - coding silent
GCLMENSG00000023909ENST00000370238p.?c.278-4C>TUnknown
MYO16ENSG00000041515ENST00000357550p.L1788Lc.5362C>TSubstitution - coding silent
FAM155AENSG00000204442ENST00000375915p.D203fs*5c.607delGDeletion - Frameshift
DYNC1H1ENSG00000197102ENST00000360184p.A3752Tc.11254G>ASubstitution - Missense
DYNC1H1ENSG00000197102ENST00000360184p.A3934Vc.11801C>TSubstitution - Missense
DEGS2ENSG00000168350ENST00000305631p.R314Wc.940C>TSubstitution - Missense
F7ENSG00000057593ENST00000375581p.?c.316+1G>AUnknown
COL4A1ENSG00000187498ENST00000375820p.P150fs*6c.449delCDeletion - Frameshift
MYO16ENSG00000041515ENST00000357550p.G519Gc.1557C>TSubstitution - coding silent
PSPC1ENSG00000121390ENST00000338910p.T94Tc.282G>ASubstitution - coding silent
ZMYM5ENSG00000132950ENST00000337963p.P542Pc.1626G>ASubstitution - coding silent
TUBA3CENSG00000198033ENST00000400113p.E22Kc.64G>ASubstitution - Missense
C1QTNF9BENSG00000205863ENST00000382140p.T22Tc.66C>ASubstitution - coding silent
SLC12A6ENSG00000140199ENST00000558589p.V318Vc.954C>TSubstitution - coding silent
SLC12A6ENSG00000140199ENST00000290209p.V276Vc.828C>TSubstitution - coding silent
RYR3ENSG00000198838ENST00000389232p.R1384Hc.4151G>ASubstitution - Missense
ACTC1ENSG00000159251ENST00000290378p.A31Tc.91G>ASubstitution - Missense
ZFYVE19ENSG00000166140ENST00000355341p.Q323*c.967C>TSubstitution - Nonsense
ZFYVE19ENSG00000166140ENST00000336455p.Q313*c.937C>TSubstitution - Nonsense
ZFYVE19ENSG00000166140ENST00000355341p.R325Wc.973C>TSubstitution - Missense
DISP2ENSG00000140323ENST00000267889p.L1377Lc.4131G>ASubstitution - coding silent
IVDENSG00000128928ENST00000487418p.?c.1075-4G>AUnknown
PLCB2ENSG00000137841ENST00000260402p.G363Gc.1089G>ASubstitution - coding silent
PLCB2ENSG00000137841ENST00000260402p.G363Gc.1089G>ASubstitution - coding silent
DISP2ENSG00000140323ENST00000267889p.D450Nc.1348G>ASubstitution - Missense
PAK6ENSG00000137843ENST00000441369p.G419Sc.1255G>ASubstitution - Missense
EIF2AK4ENSG00000128829ENST00000263791p.L1610Lc.4830G>ASubstitution - coding silent
GPR176ENSG00000166073ENST00000561100p.V287Ic.859G>ASubstitution - Missense
XM_031689.7p.T1803Rc.5408C>GSubstitution - Missense
XM_031689.7p.P1400Sc.4198C>TSubstitution - Missense
ITPKAENSG00000137825ENST00000260386p.L374Lc.1120C>TSubstitution - coding silent
SKP2ENSG00000145604ENST00000274255p.L416Lc.1246C>TSubstitution - coding silent
LIFRENSG00000113594ENST00000263409p.F323Lc.967T>CSubstitution - Missense
EGFLAMENSG00000164318ENST00000354891p.?c.546-1G>AUnknown
PSMD7ENSG00000103035ENST00000219313p.E110Kc.328G>ASubstitution - Missense
RICTORENSG00000164327ENST00000357387p.?c.50-2_50-1insGUnknown
RICTORENSG00000164327ENST00000296782p.?c.50-2_50-1insGUnknown
GABARAPL2ENSG00000034713ENST00000037243p.A23Ac.69G>ASubstitution - coding silent
LDHDENSG00000166816ENST00000300051p.R233Rc.699G>ASubstitution - coding silent
PRDM2ENSG00000116731ENST00000235372p.G133Sc.397G>ASubstitution - Missense
OR14A16ENSG00000196772ENST00000357627p.V96fs*23c.286_287delGTDeletion - Frameshift
PDE4DIPENSG00000178104ENST00000369351p.Q973Rc.2918A>GSubstitution - Missense
SRRM1ENSG00000133226ENST00000323848p.R195Cc.583C>TSubstitution - Missense
OR2T4ENSG00000196944ENST00000366475p.H170Lc.509A>TSubstitution - Missense
RPS6KA1ENSG00000117676ENST00000531382p.A126Vc.377C>TSubstitution - Missense
ZNF683ENSG00000176083ENST00000374204p.P194Lc.581C>TSubstitution - Missense
MAN1C1ENSG00000117643ENST00000374332p.K303Kc.909G>ASubstitution - coding silent
AUNIPENSG00000127423ENST00000538789p.T124Nc.371C>ASubstitution - Missense
AHDC1ENSG00000126705ENST00000247087p.R528Wc.1582C>TSubstitution - Missense
FGRENSG00000000938ENST00000374005p.C483Cc.1449C>TSubstitution - coding silent
FGRENSG00000000938ENST00000374005p.R201Hc.602G>ASubstitution - Missense
CD164L2ENSG00000174950ENST00000374025p.?c.257-9T>AUnknown
MAP3K6ENSG00000142733ENST00000493901p.F849fs*40c.2537_2538insCInsertion - Frameshift
ENST00000485269p.T3Rc.8C>GSubstitution - Missense
SYTL1ENSG00000142765ENST00000543823p.P328Pc.984G>ASubstitution - coding silent
SYTL1ENSG00000142765ENST00000543823p.V478Mc.1432G>ASubstitution - Missense
SFNENSG00000175793ENST00000339276p.A111Ac.333C>TSubstitution - coding silent
ARID1AENSG00000117713ENST00000324856p.W2091Cc.6273G>TSubstitution - Missense
MYSM1ENSG00000162601ENST00000472487p.A488Tc.1462G>ASubstitution - Missense
C8BENSG00000021852ENST00000371237p.K81Rc.242A>GSubstitution - Missense
RCC1ENSG00000180198ENST00000398958p.S236Sc.708C>TSubstitution - coding silent
NPHP4ENSG00000131697ENST00000378156p.S1366Nc.4097G>ASubstitution - Missense
LEPRENSG00000116678ENST00000344610p.S343Rc.1029T>ASubstitution - Missense
PLEKHG5ENSG00000171680ENST00000377748p.R705Kc.2114G>ASubstitution - Missense
GADD45AENSG00000116717ENST00000370986p.E105Ac.314A>CSubstitution - Missense
SRSF11ENSG00000116754ENST00000370950p.V34Vc.102A>GS