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DG-75 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

3634 mutations reported
1117 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
RAB28ENSG00000157869ENST00000288723p.I45Mc.135A>GSubstitution - Missense
ENST00000427986p.D772Gc.2315A>GSubstitution - Missense
CCDC37ENSG00000163885ENST00000352312p.R70Qc.209G>ASubstitution - Missense
FBXO48ENSG00000204923ENST00000377957p.N28fs*33c.83delADeletion - Frameshift
ENTPD8ENSG00000188833ENST00000371506p.A77Tc.229G>ASubstitution - Missense
ENST00000274361_v65p.V182Ac.545T>CSubstitution - Missense
SBF1ENSG00000100241ENST00000390679p.L1452Rc.4355T>GSubstitution - Missense
HEXBENSG00000049860ENST00000261416p.?c.511+8C>TUnknown
SREK1ENSG00000153914ENST00000334121p.R433Tc.1298G>CSubstitution - Missense
SEMA5AENSG00000112902ENST00000382496p.C650Cc.1950T>CSubstitution - coding silent
TRIOBPENSG00000100106ENST00000406386p.?c.5687+6T>CUnknown
ABCA7ENSG00000064687ENST00000263094p.S423Lc.1268C>TSubstitution - Missense
PHF3ENSG00000118482ENST00000262043p.V478Ic.1432G>ASubstitution - Missense
ZNF827ENSG00000151612ENST00000379448p.S837Lc.2510C>TSubstitution - Missense
PPP2R2BENSG00000156475ENST00000508545p.R129Wc.385C>TSubstitution - Missense
MDN1ENSG00000112159ENST00000369393p.D2672Yc.8014G>TSubstitution - Missense
PCDHGB2ENSG00000253910ENST00000522605p.E204Dc.612G>TSubstitution - Missense
ATP11BENSG00000058063ENST00000323116p.D825Dc.2475C>TSubstitution - coding silent
INTS1ENSG00000164880ENST00000389470p.E1948Kc.5842G>ASubstitution - Missense
ENST00000274705p.S272Rc.816C>GSubstitution - Missense
CYFIP2ENSG00000055163ENST00000442283p.R142Wc.424C>TSubstitution - Missense
PCDHA12ENSG00000251664ENST00000398631p.A479Tc.1435G>ASubstitution - Missense
SLC18B1ENSG00000146409ENST00000275227p.F58fs*17c.173delTDeletion - Frameshift
HLA-CENSG00000204525ENST00000376228p.T187Kc.560C>ASubstitution - Missense
RIMS2ENSG00000176406ENST00000507740p.?c.2304-9T>CUnknown
TMUB1ENSG00000164897ENST00000392818p.E101Vc.302A>TSubstitution - Missense
PCDHA10ENSG00000250120ENST00000307360p.K931Rc.2792A>GSubstitution - Missense
TRIM27ENSG00000204713ENST00000377199p.V318Mc.952G>ASubstitution - Missense
ACTN4ENSG00000130402ENST00000252699p.V124Ic.370G>ASubstitution - Missense
L3MBTL1ENSG00000185513ENST00000373134p.S535Gc.1603A>GSubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.A585Dc.1754C>ASubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.P605Tc.1813C>ASubstitution - Missense
PROM1ENSG00000007062ENST00000447510p.I61Vc.181A>GSubstitution - Missense
CFBENSG00000243649ENST00000425368p.R503Cc.1507C>TSubstitution - Missense
VWA7ENSG00000204396ENST00000375688p.?c.1200+8C>TUnknown
MYCENSG00000136997ENST00000377970p.K158Kc.474G>ASubstitution - coding silent
CELF1ENSG00000149187ENST00000395292p.C137Yc.410G>ASubstitution - Missense
ABLIM1ENSG00000099204ENST00000392955p.?c.708+7T>CUnknown
FAM186BENSG00000135436ENST00000544141p.H6Rc.17A>GSubstitution - Missense
CAMKK2ENSG00000110931ENST00000392474p.T350Tc.1050G>ASubstitution - coding silent
UBR4ENSG00000127481ENST00000375267p.T2019Tc.6057C>TSubstitution - coding silent
SIPA1L2ENSG00000116991ENST00000308942p.Y548Hc.1642T>CSubstitution - Missense
L3MBTL1ENSG00000185513ENST00000422861p.S321Gc.961A>GSubstitution - Missense
XRN1ENSG00000114127ENST00000544157p.T25fs*19c.73delADeletion - Frameshift
SNX21ENSG00000124104ENST00000342644p.E75_D76delEDc.214_219delGACGAGDeletion - In frame
MYH10ENSG00000133026ENST00000396239p.L1822Lc.5466G>TSubstitution - coding silent
TPOENSG00000115705ENST00000337415p.D633Dc.1899T>CSubstitution - coding silent
SCUBE3ENSG00000146197ENST00000394681p.T150Ac.448A>GSubstitution - Missense
ENST00000378024_v70p.G5616Dc.16847G>ASubstitution - Missense
EXOC4ENSG00000131558ENST00000393161p.N439Kc.1317T>ASubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.A1962Vc.5885C>TSubstitution - Missense
AGAP1ENSG00000157985ENST00000304032p.P129fs*22c.381delCDeletion - Frameshift
ZNF124ENSG00000196418ENST00000340684p.T277fs*>13c.829delADeletion - Frameshift
RBM3ENSG00000102317ENST00000376759p.R99Cc.295C>TSubstitution - Missense
DTX1ENSG00000135144ENST00000257600p.R443Cc.1327C>TSubstitution - Missense
CDC42BPAENSG00000143776ENST00000366766p.P1148Pc.3444C>TSubstitution - coding silent
CDC42BPAENSG00000143776ENST00000366766p.Q1147Lc.3440A>TSubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.?c.2079+3A>GUnknown
CSGALNACT2ENSG00000169826ENST00000374466p.R77Cc.229C>TSubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.L734Rc.2201T>GSubstitution - Missense
BTAF1ENSG00000095564ENST00000265990p.Q1270Qc.3810G>ASubstitution - coding silent
LRP1ENSG00000123384ENST00000243077p.R767Hc.2300G>ASubstitution - Missense
ARHGEF11ENSG00000132694ENST00000368194p.D951Nc.2851G>ASubstitution - Missense
CDONENSG00000064309ENST00000263577p.G621Rc.1861G>ASubstitution - Missense
ABCC9ENSG00000069431ENST00000261200p.?c.3096+2T>CUnknown
FOLR3ENSG00000110203ENST00000456237p.H42Yc.124C>TSubstitution - Missense
ENST00000379256p.A59Tc.175G>ASubstitution - Missense
GBF1ENSG00000107862ENST00000369983p.G1202Wc.3604G>TSubstitution - Missense
ENST00000304751p.K60Kc.180G>ASubstitution - coding silent
MS4A2ENSG00000149534ENST00000278888p.W50Gc.148T>GSubstitution - Missense
FMO2ENSG00000094963ENST00000209929p.E45Ec.135G>ASubstitution - coding silent
BRCA2ENSG00000139618ENST00000380152p.N863fs*11c.2582delADeletion - Frameshift
PUM1ENSG00000134644ENST00000257075p.G507*c.1519G>TSubstitution - Nonsense
RPRD2ENSG00000163125ENST00000369068p.L1399fs*14c.4188delCDeletion - Frameshift
ENST00000398860p.V2157Ic.6469G>ASubstitution - Missense
MESP2ENSG00000188095ENST00000341735p.A305Tc.913G>ASubstitution - Missense
PLA2G1BENSG00000170890ENST00000308366p.S56fs*>93c.165delCDeletion - Frameshift
ELMSAN1ENSG00000156030ENST00000286523p.Q36fs*33c.99_100insCInsertion - Frameshift
CASZ1ENSG00000130940ENST00000377022p.P531Lc.1592C>TSubstitution - Missense
PRDM2ENSG00000116731ENST00000235372p.K1367Rc.4100A>GSubstitution - Missense
CD163ENSG00000177575ENST00000359156p.S939Yc.2816C>ASubstitution - Missense
SLC26A9ENSG00000174502ENST00000367135p.N153fs*5c.458_459insAInsertion - Frameshift
SU_LRRK1p.G1109Cc.3325G>TSubstitution - Missense
SLC6A12ENSG00000111181ENST00000397296p.Y132Sc.395A>CSubstitution - Missense
FLG2ENSG00000143520ENST00000388718p.S1036Sc.3108A>TSubstitution - coding silent
C6ENSG00000039537ENST00000263413p.R849fs*61c.2545delADeletion - Frameshift
MTFMTENSG00000103707ENST00000220058p.Q304Hc.912G>TSubstitution - Missense
ARID1AENSG00000117713ENST00000324856p.Y930Cc.2789A>GSubstitution - Missense
H6PDENSG00000049239ENST00000377403p.E630Vc.1889A>TSubstitution - Missense
ADAMTS18ENSG00000140873ENST00000282849p.V67Ac.200T>CSubstitution - Missense
COTL1ENSG00000103187ENST00000262428p.T94Ac.280A>GSubstitution - Missense
UTS2ENSG00000049247ENST00000054668p.?c.148+2T>CUnknown
CAMTA1ENSG00000171735ENST00000303635p.A397Gc.1190C>GSubstitution - Missense
PNPLA6ENSG00000032444ENST00000414982p.?c.1973+8T>AUnknown
FBN3ENSG00000142449ENST00000270509p.S2760Fc.8279C>TSubstitution - Missense
PRR12ENSG00000126464ENST00000418929p.L2025Lc.6075G>ASubstitution - coding silent
GDF6ENSG00000156466ENST00000287020p.R332Rc.996G>CSubstitution - coding silent
CDCA2ENSG00000184661ENST00000330560p.I204Vc.610A>GSubstitution - Missense
ETS2ENSG00000157557ENST00000360214p.A283Vc.848C>TSubstitution - Missense
WDR83ENSG00000123154ENST00000418543p.A90Tc.268G>ASubstitution - Missense
RGL3ENSG00000205517ENST00000380456p.?c.1650-4C>AUnknown
BTN3A2ENSG00000186470ENST00000396948p.L261Lc.781C>TSubstitution - coding silent
GET4ENSG00000239857ENST00000265857p.E312Dc.936G>TSubstitution - Missense
LOXHD1ENSG00000167210ENST00000536736p.R1562Cc.4684C>TSubstitution - Missense
ENST00000541862p.P315Pc.945T>CSubstitution - coding silent
CNOT3ENSG00000088038ENST00000221232p.T129Ac.385A>GSubstitution - Missense
PRR14LENSG00000183530ENST00000330495p.A23Tc.67G>ASubstitution - Missense
TGFB1I1ENSG00000140682ENST00000394863p.C405Cc.1215C>TSubstitution - coding silent
SGOL1ENSG00000129810ENST00000263753p.A42Tc.124G>ASubstitution - Missense
SSTR2ENSG00000180616ENST00000357585p.Q33*c.97C>TSubstitution - Nonsense
ANK1ENSG00000029534ENST00000314214p.D134Gc.401A>GSubstitution - Missense
ZIC1ENSG00000152977ENST00000282928p.H296Hc.888C>TSubstitution - coding silent
MPC1ENSG00000060762ENST00000360961p.?c.305+7A>GUnknown
NUP43ENSG00000120253ENST00000367403p.L248Lc.744G>ASubstitution - coding silent
PTCH1ENSG00000185920ENST00000375274p.A520Vc.1559C>TSubstitution - Missense
MCMDC2ENSG00000178460ENST00000422365p.?c.1074-7T>CUnknown
PPAP2CENSG00000141934ENST00000269812p.V108Mc.322G>ASubstitution - Missense
TP53ENSG00000141510ENST00000455263p.R283Hc.848G>ASubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.G873fs*32c.2618delGDeletion - Frameshift
GABBR2ENSG00000136928ENST00000259455p.S776Sc.2328G>ASubstitution - coding silent
SCARA3ENSG00000168077ENST00000337221p.R56Rc.168G>ASubstitution - coding silent
MITFENSG00000187098ENST00000352241p.?c.762+6G>CUnknown
SRGAP3ENSG00000196220ENST00000383836p.P493Pc.1479T>CSubstitution - coding silent
ROBO1ENSG00000169855ENST00000464233p.?c.3482-3T>AUnknown
CNTN3ENSG00000113805ENST00000263665p.R841Wc.2521C>TSubstitution - Missense
TERF1ENSG00000147601ENST00000276602p.E164Ec.492A>GSubstitution - coding silent
TIMM22ENSG00000177370ENST00000327158p.T15Rc.44C>GSubstitution - Missense
PHLPP1ENSG00000081913ENST00000262719p.R839*c.2515C>TSubstitution - Nonsense
NM_014422.1p.?c.170+5delgUnknown
IRF8ENSG00000140968ENST00000268638p.R419fs*>9c.1253_1254insTInsertion - Frameshift
SPIDRENSG00000164808ENST00000297423p.S896Tc.2687G>CSubstitution - Missense
NM_006904p.L760Pc.2279T>CSubstitution - Missense
CMTM4ENSG00000183723ENST00000330687p.I67Tc.200T>CSubstitution - Missense
CDH10ENSG00000040731ENST00000264463p.T426Tc.1278T>CSubstitution - coding silent
CUX1ENSG00000257923ENST00000292538p.D316Gc.947A>GSubstitution - Missense
ENST00000319822p.?c.853-6T>AUnknown
ALG12ENSG00000182858ENST00000330817p.V395Mc.1183G>ASubstitution - Missense
COX6A1P2ENSG00000226976ENST00000423336p.H76fs*15c.221_222insCInsertion - Frameshift
CPT1BENSG00000205560ENST00000395650p.L166Fc.496C>TSubstitution - Missense
MICAL1ENSG00000135596ENST00000358807p.V167Vc.501A>GSubstitution - coding silent
DSTENSG00000151914ENST00000370769p.G146Gc.438A>GSubstitution - coding silent
NCF4ENSG00000100365ENST00000248899p.G74Rc.220G>ASubstitution - Missense
ETV7ENSG00000010030ENST00000340181p.A16Ac.48C>ASubstitution - coding silent
FBXW7ENSG00000109670ENST00000281708p.V8Vc.24G>ASubstitution - coding silent
MYNNENSG00000085274ENST00000349841p.R148*c.442C>TSubstitution - Nonsense
TLE4ENSG00000106829ENST00000376552p.N608Sc.1823A>GSubstitution - Missense
PGM3ENSG00000013375ENST00000513973p.I429Ic.1287C>TSubstitution - coding silent
ZMIZ2ENSG00000122515ENST00000309315p.I781fs*6c.2334_2335insCInsertion - Frameshift
RIMS2ENSG00000176406ENST00000436393p.?c.2262-9T>CUnknown
RNF19AENSG00000034677ENST00000519449p.?c.1826+6G>AUnknown
ENST00000319379p.?c.1840+9G>AUnknown
PCDHA8ENSG00000204962ENST00000531613p.K933Rc.2798A>GSubstitution - Missense
PCDHA11ENSG00000249158ENST00000398640p.K932Rc.2795A>GSubstitution - Missense
SLC26A3ENSG00000091138ENST00000340010p.D525fs*11c.1572delADeletion - Frameshift
NT5C3AENSG00000122643ENST00000242210p.T87Mc.260C>TSubstitution - Missense
PSMG3ENSG00000157778ENST00000288607p.V61Vc.183G>ASubstitution - coding silent
SLC35E1ENSG00000127526ENST00000409648p.Y254Yc.762C>TSubstitution - coding silent
NEBENSG00000183091ENST00000427231p.A6291Tc.18871G>ASubstitution - Missense
TPOENSG00000115705ENST00000345913p.?c.94+8G>AUnknown
MUTENSG00000146085ENST00000274813p.A393Vc.1178C>TSubstitution - Missense
PDE4DENSG00000113448ENST00000507116p.Y135Cc.404A>GSubstitution - Missense
TMEM129ENSG00000168936ENST00000303277p.I152Ic.456T>CSubstitution - coding silent
NEU1ENSG00000204386ENST00000375631p.E312Ec.936G>ASubstitution - coding silent
PSMD5ENSG00000095261ENST00000210313p.R85Sc.255G>CSubstitution - Missense
PPIGENSG00000138398ENST00000260970p.P416fs*5c.1240_1241delGADeletion - Frameshift
MAP3K13ENSG00000073803ENST00000424227p.M267Ic.801G>CSubstitution - Missense
CLCNKBENSG00000184908ENST00000375667p.L218Lc.654G>TSubstitution - coding silent
PRKCZENSG00000067606ENST00000378567p.?c.688-5C>AUnknown
FLNBENSG00000136068ENST00000357272p.H532fs*9c.1592_1593insGInsertion - Frameshift
ARHGAP6ENSG00000047648ENST00000380718p.R89fs*123c.264delCDeletion - Frameshift
DDX60LENSG00000181381ENST00000505890p.N1169fs*25c.3506delADeletion - Frameshift
SLC8A1ENSG00000183023ENST00000542024p.I220Ic.660T>CSubstitution - coding silent
ECT2ENSG00000114346ENST00000540509p.K327Kc.981G>ASubstitution - coding silent
DIAPH2ENSG00000147202ENST00000373049p.Q376Rc.1127A>GSubstitution - Missense
EFCAB5ENSG00000176927ENST00000394835p.N1417Dc.4249A>GSubstitution - Missense
ITGALENSG00000005844ENST00000356798p.R681Qc.2042G>ASubstitution - Missense
PHKBENSG00000102893ENST00000323584p.G644fs*2c.1924delADeletion - Frameshift
PHKBENSG00000102893ENST00000323584p.G644fs*2c.1924delADeletion - Frameshift
PCDHGA5ENSG00000253485ENST00000518069p.N539Sc.1616A>GSubstitution - Missense
TBL1XR1ENSG00000177565ENST00000430069p.A458Tc.1372G>ASubstitution - Missense
PCDHGC3ENSG00000240184ENST00000308177p.V69Vc.207G>ASubstitution - coding silent
C19orf55ENSG00000167595ENST00000396908p.?c.311+6T>CUnknown
HKR1ENSG00000181666ENST00000324411p.V466Gc.1397T>GSubstitution - Missense
ARAP3ENSG00000120318ENST00000239440p.R763fs*27c.2286delGDeletion - Frameshift
SOHLH1ENSG00000165643ENST00000298466p.G319Gc.957C>TSubstitution - coding silent
PCDHB11ENSG00000197479ENST00000354757p.D425Dc.1275C>TSubstitution - coding silent
PIGGENSG00000174227ENST00000310340p.G558Gc.1674C>TSubstitution - coding silent
PALB2ENSG00000083093ENST00000261584p.V248Vc.744T>ASubstitution - coding silent
PREX1ENSG00000124126ENST00000396220p.N1174Yc.3520A>TSubstitution - Missense
INTS1ENSG00000164880ENST00000389470p.S705Pc.2113T>CSubstitution - Missense
NCAPGENSG00000109805ENST00000251496p.?c.1118+3delaUnknown
PHYKPLENSG00000175309ENST00000308158p.A58Vc.173C>TSubstitution - Missense
PHYKPLENSG00000175309ENST00000308158p.A58Vc.173C>TSubstitution - Missense
HYDINENSG00000157423ENST00000321489p.K148Qc.442A>CSubstitution - Missense
CLEC17AENSG00000187912ENST00000417570p.C254Rc.760T>CSubstitution - Missense
ECE2ENSG00000145194ENST00000402825p.F622fs*9c.1864_1865delTTDeletion - Frameshift
GZMAENSG00000145649ENST00000274306p.N3Sc.8A>GSubstitution - Missense
CORO1BENSG00000172725ENST00000453768p.A49Vc.146C>TSubstitution - Missense
MYO16ENSG00000041515ENST00000457511p.F354fs*17c.1054delTDeletion - Frameshift
KIAA0226LENSG00000102445ENST00000378797p.V605Ac.1814T>CSubstitution - Missense
SLC11A2ENSG00000110911ENST00000262051p.?c.1347+2T>GUnknown
PIF1ENSG00000140451ENST00000333425p.P130Pc.390C>TSubstitution - coding silent
MPRIPENSG00000133030ENST00000395811p.P353fs*30c.1052delCDeletion - Frameshift
KLF7ENSG00000118263ENST00000412414p.R20fs*30c.58delCDeletion - Frameshift
TPOENSG00000115705ENST00000337415p.?c.94+8G>AUnknown
ENST00000335507p.L11Lc.33T>CSubstitution - coding silent
KIAA0100ENSG00000007202ENST00000528896p.A808Vc.2423C>TSubstitution - Missense
RBM3ENSG00000102317ENST00000430348p.G71Gc.213C>TSubstitution - coding silent
CDH10ENSG00000040731ENST00000264463p.E641fs*3c.1920delADeletion - Frameshift
CHD3ENSG00000170004ENST00000330494p.K111fs*30c.326delADeletion - Frameshift
MICALL2ENSG00000164877ENST00000297508p.A490Ac.1470A>GSubstitution - coding silent
SLC4A8ENSG00000050438ENST00000453097p.I294fs*26c.874delADeletion - Frameshift
ABCC4ENSG00000125257ENST00000376887p.A134Ac.402G>ASubstitution - coding silent
ENST00000314855p.L64Lc.192G>ASubstitution - coding silent
WBP4ENSG00000120688ENST00000379487p.?c.262+3_262+7delaaaaaUnknown
TEX2ENSG00000136478ENST00000258991p.E51delEc.138_140delGGADeletion - In frame
LRP1ENSG00000123384ENST00000243077p.K4527Nc.13581G>TSubstitution - Missense
ABCC9ENSG00000069431ENST00000261201p.?c.3096+2T>CUnknown
PCNXL2ENSG00000135749ENST00000258229p.S2040Sc.6120C>TSubstitution - coding silent
TTC40ENSG00000171811ENST00000368582p.Q631Kc.1891C>ASubstitution - Missense
KCNK18ENSG00000186795ENST00000334549p.K189fs*46c.562delADeletion - Frameshift
CPSF7ENSG00000149532ENST00000394888p.R192*c.574C>TSubstitution - Nonsense
KDELC1ENSG00000134901ENST00000376004p.G449Gc.1347C>TSubstitution - coding silent
SLC25A28ENSG00000155287ENST00000370495p.A141Tc.421G>ASubstitution - Missense
GOLGA8JENSG00000179938ENST00000567927p.?c.1131+8G>AUnknown
GORABENSG00000120370ENST00000367763p.K102fs*79c.302delADeletion - Frameshift
LCKENSG00000182866ENST00000336890p.T337Tc.1011C>TSubstitution - coding silent
CCDC176ENSG00000119636ENST00000394009p.T303Sc.907A>TSubstitution - Missense
FBXO6ENSG00000116663ENST00000376753p.R90Hc.269G>ASubstitution - Missense
NTHL1ENSG00000065057ENST00000219066p.R59Qc.176G>ASubstitution - Missense
DCAF4ENSG00000119599ENST00000358377p.S171Rc.513C>GSubstitution - Missense
FAM72AENSG00000196550ENST00000367128p.I131Tc.392T>CSubstitution - Missense
EIF3FENSG00000175390ENST00000309828p.V92Gc.275T>GSubstitution - Missense
PAX9ENSG00000198807ENST00000402703p.V84Ac.251T>CSubstitution - Missense
AJAP1ENSG00000196581ENST00000378190p.L303*c.908T>ASubstitution - Nonsense
PKP1ENSG00000081277ENST00000263946p.L367Pc.1100T>CSubstitution - Missense
RHOVENSG00000104140ENST00000220507p.Q114Qc.342G>ASubstitution - coding silent
FAM173AENSG00000103254ENST00000569529p.G188Gc.564C>TSubstitution - coding silent
GSE1ENSG00000131149ENST00000253458p.P237Sc.709C>TSubstitution - Missense
RP1ENSG00000104237ENST00000220676p.Y232Hc.694T>CSubstitution - Missense
NRP2ENSG00000118257ENST00000360409p.D788Gc.2363A>GSubstitution - Missense
POLRMTENSG00000099821ENST00000588649p.E1209Ec.3627G>ASubstitution - coding silent
UTS2ENSG00000049247ENST00000361696p.?c.103+2T>CUnknown
ITGA4ENSG00000115232ENST00000397033p.V568Mc.1702G>ASubstitution - Missense
CCDC141ENSG00000163492ENST00000420890p.H331Yc.991C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.S6981Pc.20941T>CSubstitution - Missense
ENST00000399211_v68p.?c.436-4G>AUnknown
DNAH9ENSG00000007174ENST00000262442p.Q3936fs*55c.11802delGDeletion - Frameshift
WNK2ENSG00000165238ENST00000297954p.T1087Tc.3261T>CSubstitution - coding silent
ENST00000403891p.T522Tc.1566G>TSubstitution - coding silent
PTPRZ1ENSG00000106278ENST00000393386p.A595Vc.1784C>TSubstitution - Missense
SLC9A8ENSG00000197818ENST00000361573p.H77Rc.230A>GSubstitution - Missense
GPR27ENSG00000170837ENST00000304411p.P90Pc.270G>ASubstitution - coding silent
CSMD1ENSG00000183117ENST00000537824p.P2923Pc.8769G>ASubstitution - coding silent
ZNF596ENSG00000172748ENST00000308811p.R198Cc.592C>TSubstitution - Missense
EFCAB5ENSG00000176927ENST00000394835p.S681Rc.2043T>ASubstitution - Missense
BPTFENSG00000171634ENST00000335221p.K2575fs*36c.7719delADeletion - Frameshift
SMURF2ENSG00000108854ENST00000262435p.G502Gc.1506T>CSubstitution - coding silent
ADAMTS9ENSG00000163638ENST00000498707p.V1899fs*2c.5695_5696delGTDeletion - Frameshift
SMARCA4ENSG00000127616ENST00000429416p.R1429Hc.4286G>ASubstitution - Missense
WDR45BENSG00000141580ENST00000392325p.G55Gc.165C>TSubstitution - coding silent
NM_020777.1p.H3Yc.7C>TSubstitution - Missense
PPLENSG00000118898ENST00000345988p.R362Lc.1085G>TSubstitution - Missense
DGAT1ENSG00000185000ENST00000332324p.I320Ic.960C>TSubstitution - coding silent
DLL1ENSG00000198719ENST00000366756p.L283fs*14c.838_839insGInsertion - Frameshift
ATP8A1ENSG00000124406ENST00000264449p.L414Lc.1242G>ASubstitution - coding silent
KCNJ15ENSG00000157551ENST00000398930p.A292Tc.874G>ASubstitution - Missense
SCRIBENSG00000180900ENST00000356994p.T553Ac.1657A>GSubstitution - Missense
ZNF16ENSG00000170631ENST00000394909p.E598Gc.1793A>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.I9906Fc.29716A>TSubstitution - Missense
MC1RENSG00000258839ENST00000555147p.A240Tc.718G>ASubstitution - Missense
ZFPM1ENSG00000179588ENST00000319555p.P273Lc.818C>TSubstitution - Missense
ICA1LENSG00000163596ENST00000358299p.E38fs*30c.111delADeletion - Frameshift
HADHENSG00000138796ENST00000309522p.K301Rc.902A>GSubstitution - Missense
ZNF665ENSG00000197497ENST00000396424p.K540Nc.1620A>CSubstitution - Missense
PISDENSG00000241878ENST00000439502p.A386Tc.1156G>ASubstitution - Missense
STRNENSG00000115808ENST00000263918p.K500fs*7c.1499delADeletion - Frameshift
MUC4ENSG00000145113ENST00000463781p.G3365Dc.10094G>ASubstitution - Missense
LEF1ENSG00000138795ENST00000265165p.Y363Yc.1089T>CSubstitution - coding silent
PTPN13ENSG00000163629ENST00000436978p.?c.2488-6T>AUnknown
KDM6AENSG00000147050ENST00000377967p.V1268Vc.3804A>GSubstitution - coding silent
HELQENSG00000163312ENST00000295488p.A905Tc.2713G>ASubstitution - Missense
CCR8ENSG00000179934ENST00000326306p.A27Vc.80C>TSubstitution - Missense
GORASP1ENSG00000114745ENST00000319283p.S208Rc.624C>ASubstitution - Missense
HID1ENSG00000167861ENST00000425042p.?c.612-9T>CUnknown
RPS5ENSG00000083845ENST00000196551p.H101Hc.303C>TSubstitution - coding silent
CPENSG00000047457ENST00000264613p.K201Qc.601A>CSubstitution - Missense
PLEKHG4ENSG00000196155ENST00000360461p.S646Sc.1938A>GSubstitution - coding silent
TCF7L1ENSG00000152284ENST00000282111p.?c.1333+4C>TUnknown
CRHR2ENSG00000106113ENST00000348438p.A417Vc.1250C>TSubstitution - Missense
FTHL17ENSG00000132446ENST00000359202p.R10Cc.28C>TSubstitution - Missense
NCKAP5ENSG00000176771ENST00000409261p.P930Pc.2790G>ASubstitution - coding silent
PTPN18ENSG00000072135ENST00000175756p.E169Kc.505G>ASubstitution - Missense
CRTC1ENSG00000105662ENST00000338797p.S588fs*4c.1753_1754insCInsertion - Frameshift
PHLDB2ENSG00000144824ENST00000412622p.R539Gc.1615A>GSubstitution - Missense
NEK11ENSG00000114670ENST00000429253p.L282Fc.846A>TSubstitution - Missense
PIK3CBENSG00000051382ENST00000477593p.A906Vc.2717C>TSubstitution - Missense
AP3B1ENSG00000132842ENST00000255194p.E107Kc.319G>ASubstitution - Missense
SVEP1ENSG00000165124ENST00000401783p.R496Cc.1486C>TSubstitution - Missense
ENST00000368597_v68p.E73Kc.217G>ASubstitution - Missense
NEDD9ENSG00000111859ENST00000504387p.V431Fc.1291G>TSubstitution - Missense
NM_002912.1p.G1207Gc.3621A>GSubstitution - coding silent
KLKB1ENSG00000164344ENST00000264690p.P581Lc.1742C>TSubstitution - Missense
AK8ENSG00000165695ENST00000298545p.A326Tc.976G>ASubstitution - Missense
PIK3CAENSG00000121879ENST00000263967p.Y904Yc.2712C>TSubstitution - coding silent
NM_006218.1p.Y904Yc.2712C>TSubstitution - coding silent
ZNF576ENSG00000124444ENST00000336564p.P34fs*20c.98delCDeletion - Frameshift
TNXBENSG00000168477ENST00000375247p.V2906Vc.8718G>ASubstitution - coding silent
ECE2ENSG00000145194ENST00000357474p.F550fs*9c.1648_1649delTTDeletion - Frameshift
C6orf25ENSG00000204420ENST00000375809p.R168Cc.502C>TSubstitution - Missense
TMEM44ENSG00000145014ENST00000392432p.N352Dc.1054A>GSubstitution - Missense
DIP2CENSG00000151240ENST00000540204p.N314Sc.941A>GSubstitution - Missense
ATF7IPENSG00000171681ENST00000543189p.R570Qc.1709G>ASubstitution - Missense
COBLL1ENSG00000082438ENST00000194871p.I542Tc.1625T>CSubstitution - Missense
MMEL1ENSG00000142606ENST00000378412p.D327Dc.981C>TSubstitution - coding silent
GPR125ENSG00000152990ENST00000508133p.T151Mc.452C>TSubstitution - Missense
SUN2ENSG00000100242ENST00000411587p.A252Dc.755C>ASubstitution - Missense
CACNA1IENSG00000100346ENST00000336649p.V1150Ac.3449T>CSubstitution - Missense
SYNE2ENSG00000054654ENST00000357395p.K776fs*12c.2325delADeletion - Frameshift
GAS7ENSG00000007237ENST00000396115p.T344Ac.1030A>GSubstitution - Missense
CNTNAP3ENSG00000106714ENST00000358144p.I643Tc.1928T>CSubstitution - Missense
TRERF1ENSG00000124496ENST00000541110p.R889Wc.2665C>TSubstitution - Missense
SHPRHENSG00000146414ENST00000438092p.R1369Cc.4105C>TSubstitution - Missense
ZNF816ENSG00000180257ENST00000357666p.A571Vc.1712C>TSubstitution - Missense
ADCY7ENSG00000121281ENST00000394697p.A152Ac.456C>TSubstitution - coding silent
NCAPG2ENSG00000146918ENST00000409423p.L1032Ic.3094C>ASubstitution - Missense
PHYHIPLENSG00000165443ENST00000373880p.R79Hc.236G>ASubstitution - Missense
UGT1A10ENSG00000242515ENST00000344644p.G467Gc.1401C>TSubstitution - coding silent
VEGFBENSG00000173511ENST00000309422p.K129fs*5c.379delADeletion - Frameshift
ADAMTS18ENSG00000140873ENST00000282849p.N83Nc.249C>TSubstitution - coding silent
BEND3ENSG00000178409ENST00000369042p.D265fs*54c.793delGDeletion - Frameshift
PCDHGA12ENSG00000253159ENST00000252085p.A60Vc.179C>TSubstitution - Missense
ABCB11ENSG00000073734ENST00000263817p.F83fs*4c.249delTDeletion - Frameshift
ENST00000330166p.K4136fs*17c.12401delADeletion - Frameshift
ENST00000319957p.I294fs*26c.874delADeletion - Frameshift
ALOX5ENSG00000012779ENST00000374391p.P91Pc.273C>ASubstitution - coding silent
CDC42BPAENSG00000143776ENST00000366769p.P1113Pc.3339C>TSubstitution - coding silent
HSPG2ENSG00000142798ENST00000374695p.A711Tc.2131G>ASubstitution - Missense
TBC1D4ENSG00000136111ENST00000377636p.C1008Cc.3024T>CSubstitution - coding silent
CSPG4ENSG00000173546ENST00000308508p.M530Vc.1588A>GSubstitution - Missense
DTLENSG00000143476ENST00000366991p.V50Ic.148G>ASubstitution - Missense
CD163ENSG00000177575ENST00000359156p.I430Ic.1290C>TSubstitution - coding silent
NANOGNBENSG00000205857ENST00000382119p.D140Gc.419A>GSubstitution - Missense
LDLRAD3ENSG00000179241ENST00000315571p.P98Pc.294C>TSubstitution - coding silent
BTBD6ENSG00000184887ENST00000392554p.A138Tc.412G>ASubstitution - Missense
PATL1ENSG00000166889ENST00000300146p.K398Rc.1193A>GSubstitution - Missense
SMC3ENSG00000108055ENST00000361804p.Q296Qc.888A>GSubstitution - coding silent
TECTBENSG00000119913ENST00000369422p.I73Tc.218T>CSubstitution - Missense
BAG3ENSG00000151929ENST00000369085p.Y205Hc.613T>CSubstitution - Missense
FAM178AENSG00000119906ENST00000238961p.N749Yc.2245A>TSubstitution - Missense
KDM4DENSG00000186280ENST00000335080p.Y199Hc.595T>CSubstitution - Missense
PEX19ENSG00000162735ENST00000368072p.L182Ic.544C>ASubstitution - Missense
SCN2BENSG00000149575ENST00000278947p.R98Hc.293G>ASubstitution - Missense
IGF2ENSG00000167244ENST00000434045p.I9Ic.27C>TSubstitution - coding silent
ZC3H7AENSG00000122299ENST00000355758p.S324Lc.971C>TSubstitution - Missense
IFNGENSG00000111537ENST00000229135p.D25Gc.74A>GSubstitution - Missense
CACNA1EENSG00000198216ENST00000367573p.L146Pc.437T>CSubstitution - Missense
NAV1ENSG00000134369ENST00000367296p.D1629Dc.4887C>TSubstitution - coding silent
TUBENSG00000166402ENST00000305253p.G19Rc.55G>ASubstitution - Missense
NM_016155.3p.G433Sc.1297G>ASubstitution - Missense
AP4S1ENSG00000100478ENST00000542754p.N127Nc.381C>TSubstitution - coding silent
KLHL28ENSG00000179454ENST00000396128p.V52Vc.156A>GSubstitution - coding silent
ALG10BENSG00000175548ENST00000308742p.P304Hc.911C>ASubstitution - Missense
DMXL2ENSG00000104093ENST00000251076p.S1004delSc.3009_3011delTTCDeletion - In frame
VPS13CENSG00000129003ENST00000395896p.N2019Nc.6057T>CSubstitution - coding silent
CTAGE5ENSG00000150527ENST00000280083p.G653Ec.1958G>ASubstitution - Missense
ENST00000389961_v65p.?c.5601+10T>CUnknown
GLG1ENSG00000090863ENST00000205061p.?c.2436+3A>GUnknown
PIF1ENSG00000140451ENST00000268043p.P130Pc.390C>TSubstitution - coding silent
LEPRENSG00000116678ENST00000371060p.S54Sc.162A>GSubstitution - coding silent
LDLRENSG00000130164ENST00000558518p.?c.313+6T>CUnknown
ASPSCR1ENSG00000169696ENST00000306729p.A198Tc.592G>ASubstitution - Missense
CHD3ENSG00000170004ENST00000330494p.W800Gc.2398T>GSubstitution - Missense
ERAL1ENSG00000132591ENST00000254928p.T168Tc.504A>GSubstitution - coding silent
RUFY3ENSG00000018189ENST00000381006p.H545fs*27c.1630delCDeletion - Frameshift
SLC12A3ENSG00000070915ENST00000438926p.Y843Cc.2528A>GSubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.?c.3482-3T>AUnknown
ROBO1ENSG00000169855ENST00000464233p.?c.3482-3T>AUnknown
CPSF3ENSG00000119203ENST00000238112p.?c.212+10T>CUnknown
ZZEF1ENSG00000074755ENST00000381638p.L2276Sc.6827T>CSubstitution - Missense
PSD3ENSG00000156011ENST00000286485p.K425Rc.1274A>GSubstitution - Missense
GET4ENSG00000239857ENST00000265857p.G249Sc.745G>ASubstitution - Missense
TRIM24ENSG00000122779ENST00000343526p.K552Tc.1655A>CSubstitution - Missense
BTN3A1ENSG00000026950ENST00000476549p.N77Nc.231C>TSubstitution - coding silent
GAS7ENSG00000007237ENST00000432992p.T404Ac.1210A>GSubstitution - Missense
ENST00000375935p.N104fs*8c.307delADeletion - Frameshift
NEDD4LENSG00000049759ENST00000382850p.N216Nc.648C>TSubstitution - coding silent
ST8SIA3ENSG00000177511ENST00000324000p.C313Yc.938G>ASubstitution - Missense
VSNL1ENSG00000163032ENST00000295156p.D15Gc.44A>GSubstitution - Missense
LILRB2ENSG00000131042ENST00000314446p.Y290Cc.869A>GSubstitution - Missense
MYH4ENSG00000264424ENST00000255381p.Q911Rc.2732A>GSubstitution - Missense
PTPN13ENSG00000163629ENST00000436978p.I140Vc.418A>GSubstitution - Missense
NOL10ENSG00000115761ENST00000381685p.V3Fc.7G>TSubstitution - Missense
PEG3ENSG00000198300ENST00000326441p.S846Sc.2538T>CSubstitution - coding silent
ESRP2ENSG00000103067ENST00000473183p.G253Gc.759G>TSubstitution - coding silent
SEMA6AENSG00000092421ENST00000343348p.N65Nc.195C>TSubstitution - coding silent
MED12LENSG00000144893ENST00000474524p.R703Hc.2108G>ASubstitution - Missense
GPR97ENSG00000182885ENST00000333493p.?c.206+5delgUnknown
NFE2L3ENSG00000050344ENST00000056233p.V680Ac.2039T>CSubstitution - Missense
FLT4ENSG00000037280ENST00000261937p.?c.3807+2T>CUnknown
DROSHAENSG00000113360ENST00000511367p.G569Dc.1706G>ASubstitution - Missense
MLF1ENSG00000178053ENST00000355893p.E119Ec.357A>GSubstitution - coding silent
SLC45A2ENSG00000164175ENST00000296589p.C48Wc.144C>GSubstitution - Missense
SU_SK681p.S449Sc.1347G>TSubstitution - coding silent
EPB41L5ENSG00000115109ENST00000263713p.T476Tc.1428A>TSubstitution - coding silent
UGT1A5ENSG00000240224ENST00000373414p.E72delEc.209_211delAAGDeletion - In frame
PTPLBENSG00000206527ENST00000383657p.L93fs*5c.278delTDeletion - Frameshift
ZNF493ENSG00000196268ENST00000355504p.K163Nc.489A>CSubstitution - Missense
FUT7ENSG00000180549ENST00000314412p.S125Nc.374G>ASubstitution - Missense
NM_001371.1p.A3115Ac.9345T>GSubstitution - coding silent
MRPS22ENSG00000175110ENST00000310776p.T115Ac.343A>GSubstitution - Missense
SUN2ENSG00000100242ENST00000405510p.A263Dc.788C>ASubstitution - Missense
EYSENSG00000188107ENST00000342421p.I90Fc.268A>TSubstitution - Missense
RTTNENSG00000176225ENST00000255674p.M413Ic.1239G>ASubstitution - Missense
KLHL4ENSG00000102271ENST00000373119p.W21Rc.61T>CSubstitution - Missense
ZNF462ENSG00000148143ENST00000457913p.P1102fs*39c.3298delCDeletion - Frameshift
ABCA1ENSG00000165029ENST00000374736p.I1247Tc.3740T>CSubstitution - Missense
TRIOBPENSG00000100106ENST00000406386p.P276Hc.827C>ASubstitution - Missense
ACO2ENSG00000100412ENST00000216254p.G311Gc.933C>TSubstitution - coding silent
KRT13ENSG00000171401ENST00000246635p.E179Dc.537G>TSubstitution - Missense
NM_032457.1p.T393Pc.1177A>CSubstitution - Missense
ACSL6ENSG00000164398ENST00000379264p.C192*c.576C>ASubstitution - Nonsense
DDX31ENSG00000125485ENST00000372159p.G812Dc.2435G>ASubstitution - Missense
NR3C1ENSG00000113580ENST00000231509p.T520Ac.1558A>GSubstitution - Missense
MCF2L2ENSG00000053524ENST00000328913p.N745Sc.2234A>GSubstitution - Missense
NDST1ENSG00000070614ENST00000261797p.V436Mc.1306G>ASubstitution - Missense
PILRAENSG00000085514ENST00000198536p.A273Vc.818C>TSubstitution - Missense
CLINT1ENSG00000113282ENST00000523094p.S411Lc.1232C>TSubstitution - Missense
OR6V1ENSG00000225781ENST00000418316p.S252Nc.755G>ASubstitution - Missense
HIST1H2AIENSG00000196747ENST00000358739p.D91Dc.273T>CSubstitution - coding silent
JAKMIP1ENSG00000152969ENST00000409021p.A503Tc.1507G>ASubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.V777Ac.2330T>CSubstitution - Missense
SDK1ENSG00000146555ENST00000404826p.I1509Tc.4526T>CSubstitution - Missense
ZMYND8ENSG00000101040ENST00000536340p.T813Tc.2439C>TSubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.S543Sc.1629G>ASubstitution - coding silent
NT5C3AENSG00000122643ENST00000242210p.M180Ic.540G>TSubstitution - Missense
SLC45A4ENSG00000022567ENST00000517878p.G133Gc.399C>TSubstitution - coding silent
SLC39A5ENSG00000139540ENST00000266980p.R74Cc.220C>TSubstitution - Missense
MARCKSL1ENSG00000175130ENST00000329421p.K83fs*18c.246delCDeletion - Frameshift
ZMYM6ENSG00000163867ENST00000357182p.M98fs*49c.292delADeletion - Frameshift
PCDHGA12ENSG00000253159ENST00000252085p.A60Vc.179C>TSubstitution - Missense
CENPHENSG00000153044ENST00000283006p.N115fs*16c.337delADeletion - Frameshift
DAZAP1ENSG00000071626ENST00000233078p.M90fs*53c.263delGDeletion - Frameshift
ISLR2ENSG00000167178ENST00000361742p.T54Mc.161C>TSubstitution - Missense
ATP2B2ENSG00000157087ENST00000360273p.T1220Mc.3659C>TSubstitution - Missense
BMPR2ENSG00000204217ENST00000374580p.N583fs*44c.1742delADeletion - Frameshift
NM_006312.2p.R1067fs*3c.3199delCDeletion - Frameshift
CD163L1ENSG00000177675ENST00000313599p.A778Vc.2333C>TSubstitution - Missense
B4GALNT4ENSG00000182272ENST00000329962p.G991fs*>49c.2966delGDeletion - Frameshift
ABCC4ENSG00000125257ENST00000376887p.A134Ac.402G>ASubstitution - coding silent
PFKPENSG00000067057ENST00000381125p.?c.455-7C>TUnknown
FNDC3AENSG00000102531ENST00000492622p.I401Tc.1202T>CSubstitution - Missense
ENST00000542178p.S5Pc.13T>CSubstitution - Missense
SNX33ENSG00000173548ENST00000308527p.E32Ec.96G>ASubstitution - coding silent
TECTAENSG00000109927ENST00000392793p.G1431Cc.4291G>TSubstitution - Missense
NOC3LENSG00000173145ENST00000371361p.K446fs*3c.1338delADeletion - Frameshift
SMG5ENSG00000198952ENST00000361813p.L333Pc.998T>CSubstitution - Missense
ENST00000438638p.S77*c.230C>GSubstitution - Nonsense
AMHR2ENSG00000135409ENST00000257863p.Y247*c.741C>ASubstitution - Nonsense
ENST00000458043_v65p.?c.2655-7T>AUnknown
UBTD1ENSG00000165886ENST00000370664p.Q216Hc.648G>CSubstitution - Missense
GDPD5ENSG00000158555ENST00000336898p.N119Sc.356A>GSubstitution - Missense
LRP10ENSG00000197324ENST00000359591p.C411Cc.1233C>TSubstitution - coding silent
OR4E2ENSG00000221977ENST00000408935p.G152fs*6c.450delGDeletion - Frameshift
CASQ1ENSG00000143318ENST00000368078p.D44Vc.131A>TSubstitution - Missense
CALHM1ENSG00000185933ENST00000329905p.R97Cc.289C>TSubstitution - Missense
CCDC85BENSG00000175602ENST00000312579p.V188Mc.562G>ASubstitution - Missense
NR1I3ENSG00000143257ENST00000367981p.A123Tc.367G>ASubstitution - Missense
ATP10AENSG00000206190ENST00000356865p.?c.3679-9C>TUnknown
GPA33ENSG00000143167ENST00000367868p.C117Yc.350G>ASubstitution - Missense
SNX27ENSG00000143376ENST00000368843p.N268fs*24c.799_800delGADeletion - Frameshift
DYNC2H1ENSG00000187240ENST00000398093p.K390Kc.1170G>ASubstitution - coding silent
GPR158ENSG00000151025ENST00000376351p.Q1026*c.3076C>TSubstitution - Nonsense
ENST00000298047_v61p.R3940Qc.11819G>ASubstitution - Missense
ENST00000355015p.A71Ac.213C>TSubstitution - coding silent
CD163ENSG00000177575ENST00000396620p.S972Yc.2915C>ASubstitution - Missense
RCC2ENSG00000179051ENST00000375433p.Y303Yc.909C>TSubstitution - coding silent
SLC26A9ENSG00000174502ENST00000367134p.N153fs*5c.456_457insAInsertion - Frameshift
ATP2B4ENSG00000058668ENST00000367218p.I996Vc.2986A>GSubstitution - Missense
MYO1EENSG00000157483ENST00000288235p.F156Sc.467T>CSubstitution - Missense
BCL11BENSG00000127152ENST00000357195p.G714Cc.2140G>TSubstitution - Missense
LCE2BENSG00000159455ENST00000368780p.P22Ac.64C>GSubstitution - Missense
CAPRIN2ENSG00000110888ENST00000251071p.Q700Qc.2100G>ASubstitution - coding silent
NUP155ENSG00000113569ENST00000231498p.V57Ic.169G>ASubstitution - Missense
ARID4AENSG00000032219ENST00000355431p.G337Cc.1009G>TSubstitution - Missense
ENST00000456228p.L674Lc.2022G>ASubstitution - coding silent
DNAJC21ENSG00000168724ENST00000303525p.K330Nc.990G>TSubstitution - Missense
FOXA2ENSG00000125798ENST00000377115p.?c.69+7G>AUnknown
NRP2ENSG00000118257ENST00000272849p.D788Gc.2363A>GSubstitution - Missense
MED16ENSG00000175221ENST00000325464p.V429Dc.1286T>ASubstitution - Missense
WDR44ENSG00000131725ENST00000254029p.T844Ac.2530A>GSubstitution - Missense
TNFRSF13BENSG00000240505ENST00000261652p.G292Cc.874G>TSubstitution - Missense
XM_210048.3p.T51Tc.153A>GSubstitution - coding silent
TOP3AENSG00000177302ENST00000321105p.I618Ic.1854T>CSubstitution - coding silent
ASB15ENSG00000146809ENST00000451558p.A244Vc.731C>TSubstitution - Missense
KIF24ENSG00000186638ENST00000402558p.T1040Tc.3120G>TSubstitution - coding silent
EPB41L1ENSG00000088367ENST00000338074p.?c.2185-1G>TUnknown
CSHL1ENSG00000204414ENST00000392824p.A114Dc.341C>ASubstitution - Missense
CHMP3ENSG00000115561ENST00000263856p.A125Tc.373G>ASubstitution - Missense
ALBENSG00000163631ENST00000295897p.H27Yc.79C>TSubstitution - Missense
SULF1ENSG00000137573ENST00000260128p.H221Lc.662A>TSubstitution - Missense
RAXENSG00000134438ENST00000334889p.E168Ec.504G>ASubstitution - coding silent
SATB2ENSG00000119042ENST00000417098p.P353Qc.1058C>ASubstitution - Missense
PLCL1ENSG00000115896ENST00000428675p.A397Sc.1189G>TSubstitution - Missense
PRSS36ENSG00000178226ENST00000268281p.R649Lc.1946G>TSubstitution - Missense
PRPF6ENSG00000101161ENST00000266079p.D72Ec.216T>GSubstitution - Missense
DSPPENSG00000152591ENST00000399271p.P426Lc.1277C>TSubstitution - Missense
LIN54ENSG00000189308ENST00000340417p.L669Lc.2005T>CSubstitution - coding silent
PLEKHG4ENSG00000196155ENST00000360461p.E706Vc.2117A>TSubstitution - Missense
SYNJ2ENSG00000078269ENST00000355585p.A788Vc.2363C>TSubstitution - Missense
EVX1ENSG00000106038ENST00000496902p.C127Rc.379T>CSubstitution - Missense
FBXL8ENSG00000135722ENST00000258200p.A295Sc.883G>TSubstitution - Missense
DMTF1ENSG00000135164ENST00000394703p.?c.677+9A>GUnknown
ADGBENSG00000118492ENST00000367488p.K175Rc.524A>GSubstitution - Missense
NUP43ENSG00000120253ENST00000340413p.V233Ic.697G>ASubstitution - Missense
C2orf74ENSG00000237651ENST00000432605p.R111Tc.332G>CSubstitution - Missense
GMCL1ENSG00000087338ENST00000282570p.L334Ic.1000T>ASubstitution - Missense
THSD7BENSG00000144229ENST00000413152p.R1180Cc.3538C>TSubstitution - Missense
GRWD1ENSG00000105447ENST00000253237p.A391Vc.1172C>TSubstitution - Missense
ATRXENSG00000085224ENST00000373344p.?c.4810-9T>AUnknown
LHFPL2ENSG00000145685ENST00000380345p.G95Dc.284G>ASubstitution - Missense
FAM26DENSG00000164451ENST00000368596p.E259Kc.775G>ASubstitution - Missense
ROS1ENSG00000047936ENST00000368508p.D311Nc.931G>ASubstitution - Missense
ROS1ENSG00000047936ENST00000368508p.S1707Nc.5120G>ASubstitution - Missense
SEMA5AENSG00000112902ENST00000382496p.R677Hc.2030G>ASubstitution - Missense
CTSOENSG00000256043ENST00000433477p.L241Lc.723G>ASubstitution - coding silent
NUP88ENSG00000108559ENST00000573584p.K599fs*4c.1796delADeletion - Frameshift
PCDHGA10ENSG00000253846ENST00000398610p.A367Tc.1099G>ASubstitution - Missense
KIF27ENSG00000165115ENST00000297814p.K554Nc.1662A>CSubstitution - Missense
SPACA1ENSG00000118434ENST00000237201p.A246Tc.736G>ASubstitution - Missense
GIMAP4ENSG00000133574ENST00000255945p.T154Tc.462C>ASubstitution - coding silent
TIMD4ENSG00000145850ENST00000274532p.?c.679+4C>TUnknown
ABCF1ENSG00000204574ENST00000326195p.R611Cc.1831C>TSubstitution - Missense
ABCF1ENSG00000204574ENST00000326195p.S816Sc.2448T>CSubstitution - coding silent
CLINT1ENSG00000113282ENST00000523094p.S411Lc.1232C>TSubstitution - Missense
C7orf34ENSG00000165131ENST00000409607p.G53Rc.157G>ASubstitution - Missense
LZTR1ENSG00000099949ENST00000215739p.Q246Rc.737A>GSubstitution - Missense
NM_017760.4p.L1032Ic.3094C>ASubstitution - Missense
PDE6BENSG00000133256ENST00000255622p.R560Cc.1678C>TSubstitution - Missense
UBE3CENSG00000009335ENST00000348165p.Y105fs*10c.307delTDeletion - Frameshift
GGT1ENSG00000100031ENST00000400380p.E137Gc.410A>GSubstitution - Missense
ARHGAP17ENSG00000140750ENST00000289968p.D875Nc.2623G>ASubstitution - Missense
UPP2ENSG00000007001ENST00000409859p.A64Tc.190G>ASubstitution - Missense
RANBP17ENSG00000204764ENST00000523189p.T244Mc.731C>TSubstitution - Missense
HYDINENSG00000157423ENST00000538248p.K175Qc.523A>CSubstitution - Missense
PROM1ENSG00000007062ENST00000447510p.G459Gc.1377C>TSubstitution - coding silent
TMEM129ENSG00000168936ENST00000382936p.I152Ic.456T>CSubstitution - coding silent
DLC1ENSG00000164741ENST00000276297p.A1057Dc.3170C>ASubstitution - Missense
MYCENSG00000136997ENST00000377970p.Q52Ec.154C>GSubstitution - Missense
BICC1ENSG00000122870ENST00000263103p.?c.1099+10A>GUnknown
NOSTRINENSG00000163072ENST00000444448p.D520Nc.1558G>ASubstitution - Missense
STK40ENSG00000196182ENST00000373130p.I36Tc.107T>CSubstitution - Missense
EP400ENSG00000183495ENST00000333577p.A538Tc.1612G>ASubstitution - Missense
ITFG3ENSG00000167930ENST00000450082p.R329Hc.986G>ASubstitution - Missense
CDC42BPAENSG00000143776ENST00000366765p.P1126Pc.3378C>TSubstitution - coding silent
TNNT2ENSG00000118194ENST00000360372p.?c.675-6G>AUnknown
ENST00000263187_v70p.C545Cc.1635T>CSubstitution - coding silent
ANK2ENSG00000145362ENST00000506722p.P370Sc.1108C>TSubstitution - Missense
ZNF181ENSG00000197841ENST00000392232p.A578Vc.1733C>TSubstitution - Missense
ZNF226ENSG00000167380ENST00000300823p.M68Tc.203T>CSubstitution - Missense
TPOENSG00000115705ENST00000539820p.?c.94+8G>AUnknown
DHX36ENSG00000174953ENST00000544526p.R429Gc.1285A>GSubstitution - Missense
ASTN1ENSG00000152092ENST00000367654p.L208Lc.622C>TSubstitution - coding silent
SPTBN4ENSG00000160460ENST00000392025p.L1192Fc.3574C>TSubstitution - Missense
ENST00000356853_v70p.D250Nc.748G>ASubstitution - Missense
NR2F2ENSG00000185551ENST00000421109p.Y48Nc.142T>ASubstitution - Missense
C1orf177ENSG00000162398ENST00000371273p.R287fs*117c.855_856insCInsertion - Frameshift
ASPSCR1ENSG00000169696ENST00000580534p.Q155Rc.464A>GSubstitution - Missense
TENM2ENSG00000145934ENST00000545108p.C633Cc.1899C>TSubstitution - coding silent
DNAH8ENSG00000124721ENST00000449981p.A3332Ac.9996T>GSubstitution - coding silent
OPRM1ENSG00000112038ENST00000435918p.W228*c.684G>ASubstitution - Nonsense
NT5C3AENSG00000122643ENST00000396152p.M141Ic.423G>TSubstitution - Missense
MCMDC2ENSG00000178460ENST00000313616p.?c.1074-7T>CUnknown
UGT1A4ENSG00000244474ENST00000373409p.G471Gc.1413C>TSubstitution - coding silent
UGT1A7ENSG00000244122ENST00000373426p.G467Gc.1401C>TSubstitution - coding silent
TSPEARENSG00000175894ENST00000323084p.A238Vc.713C>TSubstitution - Missense
THSD7BENSG00000144229ENST00000272643p.H709Hc.2127C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.G245Sc.733G>ASubstitution - Missense
NFE2L1ENSG00000082641ENST00000362042p.G370fs*44c.1104delGDeletion - Frameshift
LRP2ENSG00000081479ENST00000263816p.P4380fs*46c.13139delCDeletion - Frameshift
STYK1ENSG00000060140ENST00000075503p.R370Hc.1109G>ASubstitution - Missense
ACTG2ENSG00000163017ENST00000345517p.P131Sc.391C>TSubstitution - Missense
CDC42BPAENSG00000143776ENST00000366767p.P1032Lc.3095C>TSubstitution - Missense
EPRSENSG00000136628ENST00000366923p.S330fs*15c.984delADeletion - Frameshift
DISP1ENSG00000154309ENST00000284476p.A1123Tc.3367G>ASubstitution - Missense
KAT6BENSG00000156650ENST00000287239p.L873fs*75c.2614delTDeletion - Frameshift
TLL2ENSG00000095587ENST00000357947p.?c.2194+10T>CUnknown
ZNF503ENSG00000165655ENST00000372524p.D64Hc.190G>CSubstitution - Missense
MUCL1ENSG00000172551ENST00000308796p.C89Cc.267T>CSubstitution - coding silent
MUC5BENSG00000117983ENST00000529681p.A702Tc.2104G>ASubstitution - Missense
ZNF641ENSG00000167528ENST00000448928p.P218fs*21c.648delGDeletion - Frameshift
NID1ENSG00000116962ENST00000264187p.S474Gc.1420A>GSubstitution - Missense
LMBR1LENSG00000139636ENST00000267102p.?c.769+6T>AUnknown
ENST00000432996p.R964Mc.2891G>TSubstitution - Missense
C14orf79ENSG00000140104ENST00000547315p.P251Sc.751C>TSubstitution - Missense
ENST00000334643p.T207Tc.621G>ASubstitution - coding silent
KIAA1598ENSG00000187164ENST00000260777p.P358Pc.1074T>ASubstitution - coding silent
F5ENSG00000198734ENST00000367797p.T1302Tc.3906T>ASubstitution - coding silent
PRRC2CENSG00000117523ENST00000392078p.R295Hc.884G>ASubstitution - Missense
KDM5AENSG00000073614ENST00000399788p.T269Nc.806C>ASubstitution - Missense
NM_005056.1p.T269Nc.806C>ASubstitution - Missense
SFR1ENSG00000156384ENST00000369729p.Q16Rc.47A>GSubstitution - Missense
NR1H4ENSG00000012504ENST00000551379p.S92Pc.274T>CSubstitution - Missense
POLA2ENSG00000014138ENST00000265465p.P250Pc.750T>CSubstitution - coding silent
KIAA1279ENSG00000198954ENST00000361983p.I358Lc.1072A>CSubstitution - Missense
ARNTLENSG00000133794ENST00000396441p.H460fs*35c.1373delCDeletion - Frameshift
SRRM4ENSG00000139767ENST00000267260p.L349Pc.1046T>CSubstitution - Missense
PUSL1ENSG00000169972ENST00000379031p.L283Lc.849G>CSubstitution - coding silent
PAMR1ENSG00000149090ENST00000278360p.T102fs*7c.303delTDeletion - Frameshift
PROX2ENSG00000119608ENST00000445876p.G190Sc.568G>ASubstitution - Missense
RFC5ENSG00000111445ENST00000454402p.W22*c.65G>ASubstitution - Nonsense
EP400ENSG00000183495ENST00000389561p.R1929Wc.5785C>TSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.R3940Qc.11819G>ASubstitution - Missense
DUOXA2ENSG00000140274ENST00000323030p.S199Sc.597C>TSubstitution - coding silent
HERC1ENSG00000103657ENST00000443617p.S1322Ac.3964T>GSubstitution - Missense
GOLGA5ENSG00000066455ENST00000163416p.Y431Hc.1291T>CSubstitution - Missense
ENST00000427058p.Y42Hc.124T>CSubstitution - Missense
RGAG1ENSG00000243978ENST00000465301p.S373Pc.1117T>CSubstitution - Missense
ENST00000435384p.T844Ac.2530A>GSubstitution - Missense
SHANK1ENSG00000161681ENST00000391813p.I45Nc.134T>ASubstitution - Missense
SPAG5ENSG00000076382ENST00000321765p.R1037Cc.3109C>TSubstitution - Missense
PRKCDENSG00000163932ENST00000394729p.L380Pc.1139T>CSubstitution - Missense
SCARA3ENSG00000168077ENST00000301904p.R56Rc.168G>ASubstitution - coding silent
CHMP6ENSG00000176108ENST00000325167p.?c.262-7T>CUnknown
DDX42ENSG00000198231ENST00000578681p.N180Nc.540T>CSubstitution - coding silent
PARM1ENSG00000169116ENST00000307428p.T82Ac.244A>GSubstitution - Missense
SRRM4ENSG00000139767ENST00000267260p.L252Pc.755T>CSubstitution - Missense
MED13LENSG00000123066ENST00000281928p.P331Sc.991C>TSubstitution - Missense
PHGDHENSG00000092621ENST00000369409p.R119Rc.357G>ASubstitution - coding silent
RNF26ENSG00000173456ENST00000311413p.H190Nc.568C>ASubstitution - Missense
KCNA4ENSG00000182255ENST00000328224p.F483Vc.1447T>GSubstitution - Missense
TMEM132CENSG00000181234ENST00000435159p.G162Gc.486C>TSubstitution - coding silent
WDR77ENSG00000116455ENST00000235090p.S161Rc.483T>ASubstitution - Missense
APITD1ENSG00000175279ENST00000309048p.L92Mc.274C>ASubstitution - Missense
MMP17ENSG00000198598ENST00000360564p.A433Tc.1297G>ASubstitution - Missense
HEATR5AENSG00000129493ENST00000389961p.R1758Kc.5273G>ASubstitution - Missense
PARP11ENSG00000111224ENST00000228820p.A222Dc.665C>ASubstitution - Missense
LCE5AENSG00000186207ENST00000334269p.G97Ec.290G>ASubstitution - Missense
VPS13CENSG00000129003ENST00000261517p.N2019Nc.6057T>CSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.N2936fs*25c.8807_8808insAInsertion - Frameshift
CCDC141ENSG00000163492ENST00000409284p.H331Yc.991C>TSubstitution - Missense
EXTL1ENSG00000158008ENST00000374280p.T186Mc.557C>TSubstitution - Missense
MYOCDENSG00000141052ENST00000425538p.?c.55+6G>AUnknown
MYO1CENSG00000197879ENST00000361007p.?c.2505+4C>TUnknown
PRICKLE2ENSG00000163637ENST00000295902p.L250Fc.750G>CSubstitution - Missense
MLANAENSG00000120215ENST00000381471p.G18Dc.53G>ASubstitution - Missense
GPLD1ENSG00000112293ENST00000230036p.Q702Qc.2106G>ASubstitution - coding silent
SMTNENSG00000183963ENST00000333137p.Q402Rc.1205A>GSubstitution - Missense
ENST00000407030p.G18Gc.54C>TSubstitution - coding silent
TRMT10AENSG00000145331ENST00000394876p.R102Hc.305G>ASubstitution - Missense
LAMA5ENSG00000130702ENST00000252999p.M2472Tc.7415T>CSubstitution - Missense
PPDPFENSG00000125534ENST00000370179p.Q82Hc.246G>TSubstitution - Missense
SLC35A2ENSG00000102100ENST00000445167p.?c.274+2T>CUnknown
TEX15ENSG00000133863ENST00000256246p.T1193Tc.3579A>GSubstitution - coding silent
RANBP2ENSG00000153201ENST00000283195p.H651Rc.1952A>GSubstitution - Missense
ENST00000269290p.P2Sc.4C>TSubstitution - Missense
CDH5ENSG00000179776ENST00000341529p.I171Ic.513C>TSubstitution - coding silent
TRADDENSG00000102871ENST00000345057p.S29Lc.86C>TSubstitution - Missense
TM4SF1ENSG00000169908ENST00000305366p.G187Gc.561A>GSubstitution - coding silent
CDH9ENSG00000113100ENST00000231021p.R49Rc.147T>CSubstitution - coding silent
CD36ENSG00000135218ENST00000447544p.F135Lc.403T>CSubstitution - Missense
PHTF2ENSG00000006576ENST00000416283p.D738Gc.2213A>GSubstitution - Missense
OPRM1ENSG00000112038ENST00000229768p.W228*c.684G>ASubstitution - Nonsense
INPP5DENSG00000168918ENST00000359570p.P952Pc.2856G>ASubstitution - coding silent
BYSLENSG00000112578ENST00000230340p.S193Pc.577T>CSubstitution - Missense
CCND3ENSG00000112576ENST00000372991p.S273fs*>21c.815_816insGInsertion - Frameshift
ENST00000428290p.C10fs*4c.26delTDeletion - Frameshift
STAG1ENSG00000118007ENST00000383202p.R1081*c.3241C>TSubstitution - Nonsense
USP9YENSG00000114374ENST00000338981p.N895Hc.2683A>CSubstitution - Missense
ANKRD12ENSG00000101745ENST00000262126p.S1614Fc.4841C>TSubstitution - Missense
DEF6ENSG00000023892ENST00000316637p.C253Sc.757T>ASubstitution - Missense
KIAA0368ENSG00000136813ENST00000259335p.L1937Lc.5811T>GSubstitution - coding silent
FBXW7ENSG00000109670ENST00000281708p.V8Vc.24G>ASubstitution - coding silent
SPATA31E1ENSG00000177992ENST00000325643p.W1335Rc.4003T>CSubstitution - Missense
SLC8A1ENSG00000183023ENST00000403092p.I220Ic.660T>CSubstitution - coding silent
ZNF585AENSG00000196967ENST00000392157p.Q89*c.265C>TSubstitution - Nonsense
PCDHGA1ENSG00000204956ENST00000378105p.V333Ac.998T>CSubstitution - Missense
PCDHGA1ENSG00000204956ENST00000517417p.V333Ac.998T>CSubstitution - Missense
MDN1ENSG00000112159ENST00000369393p.D549Vc.1646A>TSubstitution - Missense
FAPENSG00000078098ENST00000188790p.L584Hc.1751T>ASubstitution - Missense
IFIH1ENSG00000115267ENST00000263642p.D673fs*5c.2016delADeletion - Frameshift
CREB3L3ENSG00000060566ENST00000078445p.R175*c.523C>TSubstitution - Nonsense
EPC2ENSG00000135999ENST00000258484p.T699Tc.2097A>GSubstitution - coding silent
TPOENSG00000115705ENST00000345913p.D633Dc.1899T>CSubstitution - coding silent
LPHN3ENSG00000150471ENST00000514591p.V777Ac.2330T>CSubstitution - Missense
ABCA3ENSG00000167972ENST00000301732p.D953Nc.2857G>ASubstitution - Missense
SFXN1ENSG00000164466ENST00000321442p.R314*c.940C>TSubstitution - Nonsense
HNRNPABENSG00000197451ENST00000358344p.Y301Yc.903C>TSubstitution - coding silent
ABLIM1ENSG00000099204ENST00000277895p.?c.982+7T>CUnknown
OR1S2ENSG00000197887ENST00000302592p.V121Ac.362T>CSubstitution - Missense
UPP2ENSG00000007001ENST00000005756p.A7Tc.19G>ASubstitution - Missense
HK3ENSG00000160883ENST00000292432p.D786Gc.2357A>GSubstitution - Missense
TNXBENSG00000168477ENST00000375244p.Y2591Cc.7772A>GSubstitution - Missense
GPR110ENSG00000153292ENST00000371253p.V493Ic.1477G>ASubstitution - Missense
FAM83BENSG00000168143ENST00000306858p.D898Ec.2694T>GSubstitution - Missense
NAF1ENSG00000145414ENST00000422287p.A323Vc.968C>TSubstitution - Missense
PDE4DENSG00000113448ENST00000405755p.Y77Cc.230A>GSubstitution - Missense
STK19ENSG00000204344ENST00000375333p.R61Hc.182G>ASubstitution - Missense
HTR3EENSG00000186038ENST00000335304p.R293Cc.877C>TSubstitution - Missense
NOSTRINENSG00000163072ENST00000317647p.D463Nc.1387G>ASubstitution - Missense
KIAA0196ENSG00000164961ENST00000318410p.L318Pc.953T>CSubstitution - Missense
SLC9A1ENSG00000090020ENST00000374086p.P331Pc.993G>ASubstitution - coding silent
CHD1LENSG00000131778ENST00000369258p.G330Gc.990T>ASubstitution - coding silent
MYO5AENSG00000197535ENST00000358212p.K405Kc.1215G>ASubstitution - coding silent
RGS12ENSG00000159788ENST00000306648p.A524Gc.1571C>GSubstitution - Missense
DZANK1ENSG00000089091ENST00000329494p.K451fs*5c.1352delADeletion - Frameshift
C19orf55ENSG00000167595ENST00000537459p.?c.311+6T>CUnknown
TMPRSS6ENSG00000187045ENST00000381792p.R404Hc.1211G>ASubstitution - Missense
DOCK10ENSG00000135905ENST00000409592p.A1129Vc.3386C>TSubstitution - Missense
C2orf54ENSG00000172478ENST00000307486p.A171Ac.513C>TSubstitution - coding silent
COL6A5ENSG00000172752ENST00000373157p.R46Sc.138G>TSubstitution - Missense
MAP3K15ENSG00000180815ENST00000338883p.S402Sc.1206G>TSubstitution - coding silent
MYO10ENSG00000145555ENST00000513610p.?c.4666+6T>CUnknown
WNK2ENSG00000165238ENST00000427277p.T699Tc.2097T>CSubstitution - coding silent
TP53ENSG00000141510ENST00000413465p.G245Sc.733G>ASubstitution - Missense
RPL22ENSG00000116251ENST00000234875p.K15fs*5c.44delADeletion - Frameshift
NEBENSG00000183091ENST00000397345p.T1139Tc.3417G>ASubstitution - coding silent
AGPAT3ENSG00000160216ENST00000398058p.T71Mc.212C>TSubstitution - Missense
XM_051221.5p.V452Ic.1354G>ASubstitution - Missense
TGM6ENSG00000166948ENST00000202625p.V295Mc.883G>ASubstitution - Missense
UGT1A8ENSG00000241635ENST00000305208p.G470Gc.1410C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.V6772Ac.20315T>CSubstitution - Missense
NM_003319p.R1304Cc.3910C>TSubstitution - Missense
MPRIPENSG00000133030ENST00000341712p.P353fs*30c.1052delCDeletion - Frameshift
SLC24A4ENSG00000140090ENST00000298877p.F238fs*40c.709delTDeletion - Frameshift
NM_002467.2p.E39Dc.117G>CSubstitution - Missense
STAMBPL1ENSG00000138134ENST00000371927p.K405fs*22c.1207delADeletion - Frameshift
CAPN2ENSG00000162909ENST00000295006p.Y264Cc.791A>GSubstitution - Missense
CDC42BPAENSG00000143776ENST00000366767p.P1032Pc.3096C>TSubstitution - coding silent
DIP2CENSG00000151240ENST00000280886p.N993Sc.2978A>GSubstitution - Missense
TAS2R14ENSG00000212127ENST00000537503p.K128fs*9c.383delADeletion - Frameshift
PCDH17ENSG00000118946ENST00000377918p.L648Lc.1944G>ASubstitution - coding silent
KIAA0226LENSG00000102445ENST00000378784p.S589Sc.1767T>CSubstitution - coding silent
B4GALNT3ENSG00000139044ENST00000266383p.G707fs*59c.2116delGDeletion - Frameshift
AF274025.1p.A148Tc.442G>ASubstitution - Missense
DPY19L2ENSG00000177990ENST00000324472p.T632Tc.1896A>GSubstitution - coding silent
KIF7ENSG00000166813ENST00000394412p.E84Kc.250G>ASubstitution - Missense
AQP5ENSG00000161798ENST00000293599p.R235Hc.704G>ASubstitution - Missense
LRP10ENSG00000197324ENST00000359591p.H221Hc.663T>CSubstitution - coding silent
TTC40ENSG00000171811ENST00000368586p.Q631Kc.1891C>ASubstitution - Missense
GPAMENSG00000119927ENST00000348367p.V708Gc.2123T>GSubstitution - Missense
INTS5ENSG00000185085ENST00000330574p.V338Ac.1013T>CSubstitution - Missense
SLC19A2ENSG00000117479ENST00000236137p.A134Tc.400G>ASubstitution - Missense
SH3PXD2AENSG00000107957ENST00000355946p.G377Cc.1129G>TSubstitution - Missense
KIAA1033ENSG00000136051ENST00000332180p.N1039fs*20c.3109delADeletion - Frameshift
ATP10AENSG00000206190ENST00000356865p.V355Vc.1065C>TSubstitution - coding silent
NR1I3ENSG00000143257ENST00000428574p.A152Tc.454G>ASubstitution - Missense
ENST00000338191p.R43Wc.127C>TSubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.V474Ic.1420G>ASubstitution - Missense
PLA2G4FENSG00000168907ENST00000382396p.A87Tc.259G>ASubstitution - Missense
CDC42SE1ENSG00000197622ENST00000357235p.H38Qc.114C>ASubstitution - Missense
SYNMENSG00000182253ENST00000336292p.E1411Kc.4231G>ASubstitution - Missense
ZNF697ENSG00000143067ENST00000421812p.R448Rc.1344T>CSubstitution - coding silent
ENST00000271263p.R39Rc.117T>CSubstitution - coding silent
SPTBN5ENSG00000137877ENST00000320955p.V2864Vc.8592G>ASubstitution - coding silent
CDAN1ENSG00000140326ENST00000356231p.S362Nc.1085G>ASubstitution - Missense
ARFIP2ENSG00000132254ENST00000396777p.L31Lc.91C>TSubstitution - coding silent
SNX32ENSG00000172803ENST00000308342p.A129Tc.385G>ASubstitution - Missense
CDCA5ENSG00000146670ENST00000275517p.A235Vc.704C>TSubstitution - Missense
EFEMP2ENSG00000172638ENST00000307998p.P318Hc.953C>ASubstitution - Missense
ENST00000372570p.S227Fc.680C>TSubstitution - Missense
STAMENSG00000136738ENST00000377524p.Q189Qc.567G>ASubstitution - coding silent
KIAA1217ENSG00000120549ENST00000376454p.D1667Dc.5001T>CSubstitution - coding silent
GLULENSG00000135821ENST00000339526p.R341Hc.1022G>ASubstitution - Missense
CCDC62ENSG00000130783ENST00000253079p.P526fs*10c.1574delCDeletion - Frameshift
NBPF10ENSG00000163386ENST00000342960p.G49Dc.146G>ASubstitution - Missense
RHPN2ENSG00000131941ENST00000400226p.I280Mc.840T>GSubstitution - Missense
CACNA1CENSG00000151067ENST00000399634p.P1876Tc.5626C>ASubstitution - Missense
CNN3ENSG00000117519ENST00000370206p.E30delEc.90_92delAGADeletion - In frame
ATP2C2ENSG00000064270ENST00000262429p.G635Gc.1905C>TSubstitution - coding silent
DZANK1ENSG00000089091ENST00000262547p.K449fs*5c.1346delADeletion - Frameshift
SPAG8ENSG00000137098ENST00000340291p.L93Pc.278T>CSubstitution - Missense
CNGB3ENSG00000170289ENST00000320005p.G555Rc.1663G>ASubstitution - Missense
ABCA7ENSG00000064687ENST00000263094p.L1465Mc.4393C>ASubstitution - Missense
CHD3ENSG00000170004ENST00000330494p.H648Lc.1943A>TSubstitution - Missense
ENST00000290422p.R395Gc.1183A>GSubstitution - Missense
WDR19ENSG00000157796ENST00000399820p.T1313Tc.3939A>GSubstitution - coding silent
SAMD9LENSG00000177409ENST00000318238p.A1195Gc.3584C>GSubstitution - Missense
SCRIBENSG00000180900ENST00000356994p.T400Pc.1198A>CSubstitution - Missense
MGAMENSG00000257335ENST00000549489p.A402Tc.1204G>ASubstitution - Missense
NM_006226.1p.A299Sc.895G>TSubstitution - Missense
FARP2ENSG00000006607ENST00000264042p.R110*c.328C>TSubstitution - Nonsense
ANK1ENSG00000029534ENST00000265709p.A223Ac.669G>ASubstitution - coding silent
RPGRENSG00000156313ENST00000378505p.S47Sc.141T>GSubstitution - coding silent
ADAM32ENSG00000197140ENST00000379907p.S389fs*15c.1164_1165insAInsertion - Frameshift
MUC4ENSG00000145113ENST00000463781p.A2262Tc.6784G>ASubstitution - Missense
ENST00000405167p.A2262Tc.6784G>ASubstitution - Missense
MLH1ENSG00000076242ENST00000231790p.Q398Qc.1194G>ASubstitution - coding silent
ABCA5ENSG00000154265ENST00000392676p.D1388Dc.4164T>CSubstitution - coding silent
ENSG00000183154ENST00000330539p.S87Ac.259T>GSubstitution - Missense
NM_152536.2p.G214Gc.642T>CSubstitution - coding silent
ANK2ENSG00000145362ENST00000357077p.P391Sc.1171C>TSubstitution - Missense
NYAP2ENSG00000144460ENST00000272907p.D255Dc.765C>TSubstitution - coding silent
PLXNA3ENSG00000130827ENST00000369682p.L342Pc.1025T>CSubstitution - Missense
COPG1ENSG00000181789ENST00000314797p.R474Hc.1421G>ASubstitution - Missense
CERS1ENSG00000223802ENST00000427170p.T274Tc.822G>ASubstitution - coding silent
CD200R1ENSG00000163606ENST00000308611p.T58Ac.172A>GSubstitution - Missense
PHLDB2ENSG00000144824ENST00000393923p.R566Gc.1696A>GSubstitution - Missense
THSD7BENSG00000144229ENST00000272643p.R964Hc.2891G>ASubstitution - Missense
TEAD3ENSG00000007866ENST00000338863p.?c.530+2T>CUnknown
CACNA1IENSG00000100346ENST00000404898p.V1109Ac.3326T>CSubstitution - Missense
ACOT12ENSG00000172497ENST00000307624p.F268_E272delFDCQEc.801_815del15Deletion - In frame
ATG5ENSG00000057663ENST00000343245p.T21Tc.63G>ASubstitution - coding silent
RPL3ENSG00000100316ENST00000216146p.?c.501+5G>AUnknown
NM_002912.1p.N1789fs*12c.5366delADeletion - Frameshift
SARDHENSG00000123453ENST00000371872p.S658Pc.1972T>CSubstitution - Missense
COILENSG00000121058ENST00000240316p.Q546Hc.1638G>TSubstitution - Missense
ECT2ENSG00000114346ENST00000232458p.K296Kc.888G>ASubstitution - coding silent
CAMSAP1ENSG00000130559ENST00000389532p.R714Mc.2141G>TSubstitution - Missense
JAKMIP2ENSG00000176049ENST00000265272p.Q20Kc.58C>ASubstitution - Missense
BMP6ENSG00000153162ENST00000283147p.E303Kc.907G>ASubstitution - Missense
PCDHGA5ENSG00000253485ENST00000518069p.N539Sc.1616A>GSubstitution - Missense
NR3C1ENSG00000113580ENST00000415690p.T519Ac.1555A>GSubstitution - Missense
PCDHGC3ENSG00000240184ENST00000308177p.V69Vc.207G>ASubstitution - coding silent
LAMB1ENSG00000091136ENST00000222399p.H86Nc.256C>ASubstitution - Missense
RIMS2ENSG00000176406ENST00000406091p.?c.2928-9T>CUnknown
DHX16ENSG00000204560ENST00000376442p.L789Lc.2367G>TSubstitution - coding silent
MED26ENSG00000105085ENST00000263390p.A466Dc.1397C>ASubstitution - Missense
SLC4A3ENSG00000114923ENST00000273063p.R1079Cc.3235C>TSubstitution - Missense
RTN2ENSG00000125744ENST00000245923p.S538Sc.1614C>TSubstitution - coding silent
DRD3ENSG00000151577ENST00000383673p.C181Rc.541T>CSubstitution - Missense
MAGEE1ENSG00000198934ENST00000361470p.P297Ac.889C>GSubstitution - Missense
ICAM1ENSG00000090339ENST00000264832p.R478fs*10c.1427delCDeletion - Frameshift
TGFBIENSG00000120708ENST00000442011p.A99Ac.297A>CSubstitution - coding silent
STIM2ENSG00000109689ENST00000237364p.S748Ic.2243G>TSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.A241Tc.721G>ASubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.A241Tc.721G>ASubstitution - Missense
SEMA4DENSG00000187764ENST00000450295p.D225Nc.673G>ASubstitution - Missense
SPIN1ENSG00000106723ENST00000375859p.G67Dc.200G>ASubstitution - Missense
TSC1ENSG00000165699ENST00000298552p.A616Tc.1846G>ASubstitution - Missense
PCDHA9ENSG00000204961ENST00000532602p.K933Rc.2798A>GSubstitution - Missense
PCDHA8ENSG00000204962ENST00000531613p.V126Ac.377T>CSubstitution - Missense
PCDHB2ENSG00000112852ENST00000194155p.P653Pc.1959G>ASubstitution - coding silent
ZSCAN12ENSG00000158691ENST00000361028p.G270Ec.809G>ASubstitution - Missense
OR10C1ENSG00000206474ENST00000444197p.N293Nc.879C>TSubstitution - coding silent
MDC1ENSG00000137337ENST00000376406p.A413Vc.1238C>TSubstitution - Missense
SPTBN4ENSG00000160460ENST00000352632p.A1711Ac.5133G>ASubstitution - coding silent
HLA-GENSG00000204632ENST00000360323p.A73Sc.217G>TSubstitution - Missense
MBD5ENSG00000204406ENST00000407073p.M1462Tc.4385T>CSubstitution - Missense
CYP4F22ENSG00000171954ENST00000269703p.W294*c.881G>ASubstitution - Nonsense
NTN3ENSG00000162068ENST00000293973p.R263Wc.787C>TSubstitution - Missense
ARHGAP17ENSG00000140750ENST00000303665p.D797Nc.2389G>ASubstitution - Missense
LYPD5ENSG00000159871ENST00000414615p.G22Rc.64G>ASubstitution - Missense
C4orf45ENSG00000164123ENST00000434826p.L92Lc.276G>ASubstitution - coding silent
CENPKENSG00000123219ENST00000396679p.T78fs*7c.232delADeletion - Frameshift
SLIT3ENSG00000184347ENST00000519560p.P205Pc.615G>ASubstitution - coding silent
NM_002467.2p.Q37Ec.109C>GSubstitution - Missense
MYCENSG00000136997ENST00000377970p.N127Nc.381C>TSubstitution - coding silent
MAP3K13ENSG00000073803ENST00000424227p.M267Ic.801G>CSubstitution - Missense
C9orf114ENSG00000198917ENST00000361256p.D324Yc.970G>TSubstitution - Missense
OR4A15ENSG00000181958ENST00000314706p.F190Sc.569T>CSubstitution - Missense
CSMD2ENSG00000121904ENST00000338325p.V122Ic.364G>ASubstitution - Missense
PLA2G4CENSG00000105499ENST00000599111p.F291fs*5c.873delTDeletion - Frameshift
NLRP7ENSG00000167634ENST00000446217p.G995Sc.2983G>ASubstitution - Missense
ITFG3ENSG00000167930ENST00000442458p.R329Hc.986G>ASubstitution - Missense
LPIN1ENSG00000134324ENST00000449576p.A583Tc.1747G>ASubstitution - Missense
POLHENSG00000170734ENST00000372236p.?c.661-4C>GUnknown
SLC35A2ENSG00000102100ENST00000376512p.?c.274+2T>CUnknown
RECKENSG00000122707ENST00000377966p.E106Kc.316G>ASubstitution - Missense
GABBR2ENSG00000136928ENST00000259455p.A685Tc.2053G>ASubstitution - Missense
AGBL5ENSG00000084693ENST00000323064p.G426Gc.1278C>TSubstitution - coding silent
YME1L1ENSG00000136758ENST00000326799p.R177Cc.529C>TSubstitution - Missense
ARHGEF37ENSG00000183111ENST00000333677p.P194Hc.581C>ASubstitution - Missense
ENST00000282251_v68p.K96fs*41c.287delADeletion - Frameshift
RLN2ENSG00000107014ENST00000381627p.F7fs*4c.20delTDeletion - Frameshift
PFKPENSG00000067057ENST00000381075p.?c.431-7C>TUnknown
SKIENSG00000157933ENST00000378536p.A345Ac.1035G>ASubstitution - coding silent
BAZ2AENSG00000076108ENST00000551812p.R959Hc.2876G>ASubstitution - Missense
CDPF1ENSG00000205643ENST00000314567p.N33fs*14c.96delCDeletion - Frameshift
ETV3ENSG00000117036ENST00000326786p.R51Cc.151C>TSubstitution - Missense
GRIK4ENSG00000149403ENST00000527524p.N585Sc.1754A>GSubstitution - Missense
KAT6BENSG00000156650ENST00000287239p.D1227Ec.3681T>ASubstitution - Missense
XPOTENSG00000184575ENST00000332707p.R541Rc.1623G>CSubstitution - coding silent
EPHA8ENSG00000070886ENST00000166244p.V75Ic.223G>ASubstitution - Missense
ENST00000344698_v71p.N767Sc.2300A>GSubstitution - Missense
PATL1ENSG00000166889ENST00000300146p.K398Rc.1193A>GSubstitution - Missense
ENST00000300149p.I30Tc.89T>CSubstitution - Missense
RGS7ENSG00000182901ENST00000366565p.?c.1269+9A>GUnknown
EEA1ENSG00000102189ENST00000322349p.N570Tc.1709A>CSubstitution - Missense
AHNAKENSG00000124942ENST00000378024p.G5616Dc.16847G>ASubstitution - Missense
ATE1ENSG00000107669ENST00000369043p.G231Gc.693T>GSubstitution - coding silent
DNM3ENSG00000197959ENST00000358155p.A497Tc.1489G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.R1304Cc.3910C>TSubstitution - Missense
FSIP2ENSG00000188738ENST00000343098p.V432fs*24c.1287delADeletion - Frameshift
ZNF462ENSG00000148143ENST00000277225p.P1102fs*39c.3298delCDeletion - Frameshift
SENP3ENSG00000161956ENST00000429205p.R190fs*11c.563delCDeletion - Frameshift
NIFKENSG00000155438ENST00000285814p.G180fs*9c.537delADeletion - Frameshift
GRK7ENSG00000114124ENST00000264952p.A129Ac.387C>TSubstitution - coding silent
PCDHGA1ENSG00000204956ENST00000517417p.A696Vc.2087C>TSubstitution - Missense
SLC4A8ENSG00000050438ENST00000394856p.I241fs*26c.715delADeletion - Frameshift
CASD1ENSG00000127995ENST00000297273p.A543fs*13c.1619delADeletion - Frameshift
ACACBENSG00000076555ENST00000377848p.V318Ac.953T>CSubstitution - Missense
ETS1ENSG00000134954ENST00000392668p.V78Ac.233T>CSubstitution - Missense
SLC16A7ENSG00000118596ENST00000261187p.V40Vc.120C>TSubstitution - coding silent
ENST00000333815p.P944Pc.2832T>GSubstitution - coding silent
SLC11A2ENSG00000110911ENST00000262052p.?c.1347+2T>GUnknown
FAM160A2ENSG00000051009ENST00000265978p.G224Gc.672C>TSubstitution - coding silent
BEST1ENSG00000167995ENST00000449131p.A135Ac.405G>ASubstitution - coding silent
TDRD1ENSG00000095627ENST00000251864p.G498Gc.1494T>GSubstitution - coding silent
ENST00000326544p.R730*c.2188C>TSubstitution - Nonsense
ADCENSG00000142920ENST00000373443p.L341Rc.1022T>GSubstitution - Missense
PRRC2CENSG00000117523ENST00000392078p.R295Hc.884G>ASubstitution - Missense
PARNENSG00000140694ENST00000437198p.R249Cc.745C>TSubstitution - Missense
TRIM33ENSG00000197323ENST00000358465p.E1103Kc.3307G>ASubstitution - Missense
NGFENSG00000134259ENST00000369512p.T212Pc.634A>CSubstitution - Missense
RHBDF1ENSG00000007384ENST00000262316p.?c.2148+1G>AUnknown
GPR61ENSG00000156097ENST00000404129p.Q273fs*40c.812delCDeletion - Frameshift
HMCN1ENSG00000143341ENST00000271588p.V2364Ic.7090G>ASubstitution - Missense
CUBNENSG00000107611ENST00000377833p.R3498Cc.10492C>TSubstitution - Missense
OTUD1ENSG00000165312ENST00000376495p.H345Yc.1033C>TSubstitution - Missense
TNNT2ENSG00000118194ENST00000458432p.?c.717-6G>AUnknown
RASAL2ENSG00000075391ENST00000462775p.R1038Wc.3112C>TSubstitution - Missense
SOAT1ENSG00000057252ENST00000367619p.G70Dc.209G>ASubstitution - Missense
CHRNB2ENSG00000160716ENST00000368476p.A345Vc.1034C>TSubstitution - Missense
ENST00000228245p.R24*c.70C>TSubstitution - Nonsense
ARL8AENSG00000143862ENST00000272217p.S90Sc.270C>TSubstitution - coding silent
KTN1ENSG00000126777ENST00000416613p.?c.3531+6T>CUnknown
MTFMTENSG00000103707ENST00000220058p.Q304Hc.912G>TSubstitution - Missense
UNC79ENSG00000133958ENST00000553484p.L2068Vc.6202C>GSubstitution - Missense
CEP128ENSG00000100629ENST00000216517p.R94Hc.281G>ASubstitution - Missense
ZMYM2ENSG00000121741ENST00000382869p.L674Lc.2022G>ASubstitution - coding silent
ATP11AENSG00000068650ENST00000375630p.S1072Rc.3214A>CSubstitution - Missense
ATP2C2ENSG00000064270ENST00000262429p.?c.2722+8G>AUnknown
XRN2ENSG00000088930ENST00000377191p.L649Pc.1946T>CSubstitution - Missense
KLK15ENSG00000174562ENST00000326856p.D227Dc.681C>TSubstitution - coding silent
ENST00000399211p.?c.436-4G>AUnknown
DNAH2ENSG00000183914ENST00000570791p.G165fs*44c.491delGDeletion - Frameshift
TMC6ENSG00000141524ENST00000322914p.?c.57-8C>TUnknown
SU_WNK2p.T1073Tc.3219T>CSubstitution - coding silent
TEKT3ENSG00000125409ENST00000395930p.?c.878+4A>GUnknown
CLUHENSG00000132361ENST00000435359p.H1115Hc.3345C>TSubstitution - coding silent
DHRS13ENSG00000167536ENST00000378895p.A93fs*17c.278_288del11Deletion - Frameshift
USP25ENSG00000155313ENST00000400183p.Y814fs*6c.2433delGDeletion - Frameshift
ENST00000356127p.I16276Fc.48826A>TSubstitution - Missense
TRMT2AENSG00000099899ENST00000404751p.P555fs*>8c.1664delCDeletion - Frameshift
WDR35ENSG00000118965ENST00000345530p.D1057Hc.3169G>CSubstitution - Missense
PRR14LENSG00000183530ENST00000327423p.A1870Tc.5608G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000346145p.P1103Pc.3309C>TSubstitution - coding silent
IFT172ENSG00000138002ENST00000260570p.W392*c.1175G>ASubstitution - Nonsense
GRIPAP1ENSG00000068400ENST00000376423p.R522Rc.1566G>ASubstitution - coding silent
ITGA9ENSG00000144668ENST00000264741p.G254Sc.760G>ASubstitution - Missense
SCN10AENSG00000185313ENST00000449082p.?c.270+2T>CUnknown
MAP3K4ENSG00000085511ENST00000392142p.K535Kc.1605G>ASubstitution - coding silent
LATS1ENSG00000131023ENST00000543571p.P373Qc.1118C>ASubstitution - Missense
CCDC108ENSG00000181378ENST00000341552p.V1165fs*5c.3492delCDeletion - Frameshift
PLEKENSG00000115956ENST00000234313p.E34Ec.102A>GSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.V935Ic.2803G>ASubstitution - Missense
HADHENSG00000138796ENST00000403312p.K318Rc.953A>GSubstitution - Missense
NDUFA3ENSG00000170906ENST00000391764p.T49Tc.147G>ASubstitution - coding silent
ZNF160ENSG00000170949ENST00000429604p.D35Gc.104A>GSubstitution - Missense
C2orf49ENSG00000135974ENST00000437250p.N170Tc.509A>CSubstitution - Missense
XYLBENSG00000093217ENST00000207870p.?c.58-5T>CUnknown
RLTPRENSG00000159753ENST00000334583p.G1099Gc.3297C>TSubstitution - coding silent
SETD6ENSG00000103037ENST00000310682p.P252Sc.754C>TSubstitution - Missense
AADACL2ENSG00000197953ENST00000356517p.?c.537+10A>GUnknown
ANK2ENSG00000145362ENST00000357077p.P864Pc.2592T>CSubstitution - coding silent
SEMA3CENSG00000075223ENST00000265361p.V240Vc.720G>ASubstitution - coding silent
PTCHD1ENSG00000165186ENST00000379361p.K635fs*8c.1900delADeletion - Frameshift
ABCB1ENSG00000085563ENST00000265724p.F17fs*3c.51delTDeletion - Frameshift
RELNENSG00000189056ENST00000343529p.?c.226+10G>AUnknown
CYP2D6ENSG00000100197ENST00000359033p.R218fs*5c.652_653insCInsertion - Frameshift
MRASENSG00000158186ENST00000289104p.?c.447+4G>CUnknown
MARK4ENSG00000007047ENST00000262891p.R678Cc.2032C>TSubstitution - Missense
UGGT1ENSG00000136731ENST00000259253p.E806*c.2416G>TSubstitution - Nonsense
SREK1ENSG00000153914ENST00000380918p.R317Tc.950G>CSubstitution - Missense
ZXDBENSG00000198455ENST00000374888p.T566Tc.1698G>ASubstitution - coding silent
ZCCHC13ENSG00000187969ENST00000339534p.R88Hc.263G>ASubstitution - Missense
TIMM21ENSG00000075336ENST00000169551p.R73*c.217C>TSubstitution - Nonsense
KLHL18ENSG00000114648ENST00000232766p.G393Gc.1179C>TSubstitution - coding silent
PPP6R2ENSG00000100239ENST00000359139p.S125fs*64c.371_372insTInsertion - Frameshift
REV3LENSG00000009413ENST00000358835p.G1285Gc.3855A>GSubstitution - coding silent
EXOC2ENSG00000112685ENST00000230449p.C541Cc.1623C>TSubstitution - coding silent
TMPRSS6ENSG00000187045ENST00000346753p.R413Hc.1238G>ASubstitution - Missense
PRMT10ENSG00000164169ENST00000322396p.G363Gc.1089A>TSubstitution - coding silent
OR13C3ENSG00000204246ENST00000374781p.V172Ac.515T>CSubstitution - Missense
CCDC149ENSG00000181982ENST00000504487p.S260Yc.779C>ASubstitution - Missense
GRIN3AENSG00000198785ENST00000361820p.?c.699+9A>GUnknown
WDR31ENSG00000148225ENST00000374193p.D157Ec.471C>GSubstitution - Missense
COL5A1ENSG00000130635ENST00000371817p.?c.1390-10G>AUnknown
TLE4ENSG00000106829ENST00000376520p.N640Sc.1919A>GSubstitution - Missense
ZNF527ENSG00000189164ENST00000356178p.Q188*c.562C>TSubstitution - Nonsense
CACTINENSG00000105298ENST00000429344p.G510Gc.1530C>TSubstitution - coding silent
GALNT10ENSG00000164574ENST00000425427p.E102Kc.304G>ASubstitution - Missense
SLFN12LENSG00000205045ENST00000449046p.M544Tc.1631T>CSubstitution - Missense
VNN2ENSG00000112303ENST00000326499p.Y288Hc.862T>CSubstitution - Missense
KIAA1009ENSG00000135315ENST00000403245p.E411Ec.1233G>ASubstitution - coding silent
CLCN1ENSG00000188037ENST00000343257p.S312Sc.936C>TSubstitution - coding silent
CDK13ENSG00000065883ENST00000181839p.G905Rc.2713G>CSubstitution - Missense
RIF1ENSG00000080345ENST00000444746p.L615Pc.1844T>CSubstitution - Missense
EPHA5ENSG00000145242ENST00000273854p.?c.2658+6T>CUnknown
ITGB8ENSG00000105855ENST00000222573p.W711Rc.2131T>CSubstitution - Missense
CHD6ENSG00000124177ENST00000373233p.T1972Ac.5914A>GSubstitution - Missense
MCM3ENSG00000112118ENST00000229854p.P205Pc.615G>ASubstitution - coding silent
TNXBENSG00000168477ENST00000375244p.A3316Tc.9946G>ASubstitution - Missense
PRKCBENSG00000166501ENST00000303531p.P188Pc.564C>ASubstitution - coding silent
OR1K1ENSG00000165204ENST00000277309p.R266Qc.797G>ASubstitution - Missense
STK39ENSG00000198648ENST00000355999p.?c.573-10T>CUnknown
MYCENSG00000136997ENST00000377970p.Y47Yc.141C>TSubstitution - coding silent
PHGDHENSG00000092621ENST00000369407p.R85Rc.255G>ASubstitution - coding silent
MYO16ENSG00000041515ENST00000251041p.F842fs*17c.2518delTDeletion - Frameshift
UBN2ENSG00000157741ENST00000473989p.N582fs*16c.1739delADeletion - Frameshift
HKR1ENSG00000181666ENST00000392153p.V447Gc.1340T>GSubstitution - Missense
SLC8A1ENSG00000183023ENST00000406785p.I220Ic.660T>CSubstitution - coding silent
PHLPP2ENSG00000040199ENST00000360429p.I383Nc.1148T>ASubstitution - Missense
CHD5ENSG00000116254ENST00000378021p.P744fs*14c.2231delCDeletion - Frameshift
ASPSCR1ENSG00000169696ENST00000580534p.A121Tc.361G>ASubstitution - Missense
KIF1AENSG00000130294ENST00000498729p.T1690Mc.5069C>TSubstitution - Missense
RPGRENSG00000156313ENST00000342811p.S47Sc.141T>GSubstitution - coding silent
PTENENSG00000171862ENST00000371953p.?c.253+5G>TUnknown
FLCNENSG00000154803ENST00000285071p.R57Qc.170G>ASubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.G2183Gc.6549C>TSubstitution - coding silent
CLIC5ENSG00000112782ENST00000544153p.T182Tc.546C>ASubstitution - coding silent
OPRM1ENSG00000112038ENST00000414028p.W228*c.684G>ASubstitution - Nonsense
PPP1R3AENSG00000154415ENST00000284601p.P404Pc.1212T>GSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.G245Sc.733G>ASubstitution - Missense
WDR45ENSG00000196998ENST00000356463p.F313Fc.939C>TSubstitution - coding silent
DCLK2ENSG00000170390ENST00000296550p.S688Sc.2064C>TSubstitution - coding silent
SYT9ENSG00000170743ENST00000318881p.A249Tc.745G>ASubstitution - Missense
XRN1ENSG00000114127ENST00000264951p.T235fs*19c.703delADeletion - Frameshift
BTAF1ENSG00000095564ENST00000265990p.L1146fs*27c.3431delTDeletion - Frameshift
PLXNB1ENSG00000164050ENST00000296440p.F1997Fc.5991C>TSubstitution - coding silent
ESR2ENSG00000140009ENST00000341099p.R93Cc.277C>TSubstitution - Missense
CRYGAENSG00000168582ENST00000304502p.R142Wc.424C>TSubstitution - Missense
OR1J1ENSG00000136834ENST00000259357p.T160Tc.480C>TSubstitution - coding silent
TENM3ENSG00000218336ENST00000511685p.G429Vc.1286G>TSubstitution - Missense
CDC42BPAENSG00000143776ENST00000366769p.P1113Lc.3338C>TSubstitution - Missense
BAZ2AENSG00000076108ENST00000379441p.R995Hc.2984G>ASubstitution - Missense
C1orf86ENSG00000162585ENST00000378546p.A129Tc.385G>ASubstitution - Missense
LARP4BENSG00000107929ENST00000316157p.T367Tc.1101G>ASubstitution - coding silent
CADM3ENSG00000162706ENST00000368124p.G290Gc.870T>CSubstitution - coding silent
FCHSD2ENSG00000137478ENST00000409418p.D671Nc.2011G>ASubstitution - Missense
EIF5ENSG00000100664ENST00000392715p.T416Ac.1246A>GSubstitution - Missense
PRKD1ENSG00000184304ENST00000331968p.K826Ec.2476A>GSubstitution - Missense
STK40ENSG00000196182ENST00000373129p.I36Tc.107T>CSubstitution - Missense
PPRC1ENSG00000148840ENST00000278070p.D99Dc.297T>CSubstitution - coding silent
STAB2ENSG00000136011ENST00000388887p.C2020Cc.6060C>TSubstitution - coding silent
PNLIPENSG00000175535ENST00000369221p.D222Gc.665A>GSubstitution - Missense
TET1ENSG00000138336ENST00000373644p.P581Lc.1742C>TSubstitution - Missense
NCR3LG1ENSG00000188211ENST00000338965p.K404Kc.1212G>ASubstitution - coding silent
SUPT20HENSG00000102710ENST00000350612p.T482Tc.1446A>GSubstitution - coding silent
SETDB1ENSG00000143379ENST00000271640p.Y340Nc.1018T>ASubstitution - Missense
SYVN1ENSG00000162298ENST00000377190p.A179Vc.536C>TSubstitution - Missense
GPATCH2LENSG00000089916ENST00000261530p.I332Vc.994A>GSubstitution - Missense
ENST00000238583p.G190Sc.568G>ASubstitution - Missense
COX16ENSG00000133983ENST00000389912p.P90Ac.268C>GSubstitution - Missense
CATENSG00000121691ENST00000241052p.?c.903+6T>GUnknown
DYNC2H1ENSG00000187240ENST00000398093p.R1448Hc.4343G>ASubstitution - Missense
NAT10ENSG00000135372ENST00000257829p.D707Nc.2119G>ASubstitution - Missense
ATP6V0A2ENSG00000185344ENST00000330342p.L273Fc.817C>TSubstitution - Missense
GPX7ENSG00000116157ENST00000361314p.L181Lc.543A>GSubstitution - coding silent
HECTD1ENSG00000092148ENST00000399332p.?c.6150+10T>CUnknown
ENSG00000214325ENST00000398113p.P149Lc.446C>TSubstitution - Missense
ARID4AENSG00000032219ENST00000355431p.G337Cc.1009G>TSubstitution - Missense
ZC3H14ENSG00000100722ENST00000251038p.V299Ic.895G>ASubstitution - Missense
EXOC5ENSG00000070367ENST00000413566p.L42Fc.126A>CSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.K4391fs*12c.13170delADeletion - Frameshift
ENST00000414268p.S235fs*19c.703_704delAGDeletion - Frameshift
ABCD3ENSG00000117528ENST00000370214p.?c.1322+3A>TUnknown
SLC6A14ENSG00000087916ENST00000371900p.S43fs*59c.126_127insAInsertion - Frameshift
RALGAPA2ENSG00000188559ENST00000202677p.I270Tc.809T>CSubstitution - Missense
MIER2ENSG00000105556ENST00000264819p.D144Dc.432C>TSubstitution - coding silent
DNAH2ENSG00000183914ENST00000389173p.G165fs*44c.491delGDeletion - Frameshift
FLNCENSG00000128591ENST00000325888p.A479Tc.1435G>ASubstitution - Missense
MROH8ENSG00000101353ENST00000400441p.V855Mc.2563G>ASubstitution - Missense
ARHGAP40ENSG00000124143ENST00000373345p.V212Ic.634G>ASubstitution - Missense
MITFENSG00000187098ENST00000328528p.?c.759+6G>CUnknown
MT1EENSG00000169715ENST00000306061p.?c.94+8C>TUnknown
BTG3ENSG00000154640ENST00000348354p.H242Pc.725A>CSubstitution - Missense
KIAA1147ENSG00000257093ENST00000536163p.L391Mc.1171C>ASubstitution - Missense
TRIM24ENSG00000122779ENST00000415680p.K518Tc.1553A>CSubstitution - Missense
SLC5A6ENSG00000138074ENST00000310574p.?c.734+9A>GUnknown
PTPRAENSG00000132670ENST00000380393p.N269fs*4c.800delADeletion - Frameshift
INPP5JENSG00000185133ENST00000331075p.?c.1271+5delgUnknown
ZNF613ENSG00000176024ENST00000293471p.T332Sc.995C>GSubstitution - Missense
ITGAEENSG00000083457ENST00000263087p.V785Gc.2354T>GSubstitution - Missense
GLT8D1ENSG00000016864ENST00000394783p.R110Wc.328C>TSubstitution - Missense
KIF25ENSG00000125337ENST00000354419p.G180Gc.540T>CSubstitution - coding silent
BTN2A2ENSG00000124508ENST00000356709p.G352fs*40c.1052delGDeletion - Frameshift
ZNF696ENSG00000185730ENST00000330143p.G324Dc.971G>ASubstitution - Missense
SCRIBENSG00000180900ENST00000356994p.T400Pc.1198A>CSubstitution - Missense
LMTK2ENSG00000164715ENST00000297293p.D933Gc.2798A>GSubstitution - Missense
UBN2ENSG00000157741ENST00000288561p.N499fs*16c.1490delADeletion - Frameshift
PTPRAENSG00000132670ENST00000358719p.N125fs*4c.368delADeletion - Frameshift
MIB1ENSG00000101752ENST00000261537p.G510Gc.1530C>TSubstitution - coding silent
TTC30AENSG00000197557ENST00000355689p.Q187Rc.560A>GSubstitution - Missense
UBALD1ENSG00000153443ENST00000283474p.P141Pc.423G>ASubstitution - coding silent
PTPN13ENSG00000163629ENST00000436978p.S1697Rc.5091T>ASubstitution - Missense
CNTN4ENSG00000144619ENST00000418658p.K53Rc.158A>GSubstitution - Missense
RBM3ENSG00000102317ENST00000354480p.G71Gc.213C>TSubstitution - coding silent
ZNF628ENSG00000197483ENST00000391718p.R160Wc.478C>TSubstitution - Missense
ZNF586ENSG00000083828ENST00000396154p.T396Sc.1187C>GSubstitution - Missense
DCTN1ENSG00000204843ENST00000361874p.E476Dc.1428G>CSubstitution - Missense
METAP1ENSG00000164024ENST00000296411p.A154Vc.461C>TSubstitution - Missense
ADAD1ENSG00000164113ENST00000296513p.N353Nc.1059T>CSubstitution - coding silent
NM_020340.2p.A851Vc.2552C>TSubstitution - Missense
LRRFIP1ENSG00000124831ENST00000308482p.I590fs*1c.1763delADeletion - Frameshift
EPHA4ENSG00000116106ENST00000281821p.Y298Yc.894C>TSubstitution - coding silent
KIF6ENSG00000164627ENST00000287152p.?c.1755-10T>CUnknown
PNPLA3ENSG00000100344ENST00000216180p.V184Mc.550G>ASubstitution - Missense
LMTK3ENSG00000142235ENST00000270238p.S183Sc.549C>TSubstitution - coding silent
SU_LMR3p.S169Sc.507C>TSubstitution - coding silent
XPO6ENSG00000169180ENST00000304658p.I42Tc.125T>CSubstitution - Missense
ARR3ENSG00000120500ENST00000307959p.P90Hc.269C>ASubstitution - Missense
PPP2R3AENSG00000073711ENST00000264977p.R178Wc.532C>TSubstitution - Missense
IL20RBENSG00000174564ENST00000329582p.V209Mc.625G>ASubstitution - Missense
MTRRENSG00000124275ENST00000264668p.S539Rc.1617C>ASubstitution - Missense
BAIAP2L2ENSG00000128298ENST00000381669p.V396fs*1c.1185delCDeletion - Frameshift
ADSLENSG00000239900ENST00000216194p.?c.357+7G>AUnknown
ASIC5ENSG00000256394ENST00000537611p.I482Mc.1446A>GSubstitution - Missense
ATG5ENSG00000057663ENST00000343245p.S268Ic.803G>TSubstitution - Missense
SORBS2ENSG00000154556ENST00000284776p.R435Ic.1304G>TSubstitution - Missense
PDGFRBENSG00000113721ENST00000261799p.D166Dc.498C>TSubstitution - coding silent
RBM27ENSG00000091009ENST00000265271p.F983Lc.2947T>CSubstitution - Missense
JAKMIP2ENSG00000176049ENST00000265272p.E566Dc.1698A>TSubstitution - Missense
ECT2ENSG00000114346ENST00000427830p.K296Kc.888G>ASubstitution - coding silent
ZSCAN16ENSG00000196812ENST00000340487p.S29Sc.87A>GSubstitution - coding silent
MAS1LENSG00000204687ENST00000377127p.R330fs*10c.987_988delCADeletion - Frameshift
RADILENSG00000157927ENST00000399583p.C588*c.1764C>ASubstitution - Nonsense
NT5C3AENSG00000122643ENST00000396152p.T48Mc.143C>TSubstitution - Missense
MOGENSG00000204655ENST00000376917p.F73fs*3c.216_217insCInsertion - Frameshift
COBLL1ENSG00000082438ENST00000342193p.I476Tc.1427T>CSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
ZNF226ENSG00000167380ENST00000454662p.M68Tc.203T>CSubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.?c.3662+5deltUnknown
TCF3ENSG00000071564ENST00000344749p.D561Vc.1682A>TSubstitution - Missense
ENST00000319396p.R2015Wc.6043C>TSubstitution - Missense
PDE4DENSG00000113448ENST00000360047p.Y63Cc.188A>GSubstitution - Missense
C6orf25ENSG00000204420ENST00000375806p.R168Cc.502C>TSubstitution - Missense
ITGA1ENSG00000213949ENST00000282588p.T548Ac.1642A>GSubstitution - Missense
TAP1ENSG00000168394ENST00000354258p.M313Tc.938T>CSubstitution - Missense
PDE4DENSG00000113448ENST00000340635p.Y199Cc.596A>GSubstitution - Missense
ENST00000316258p.D71Dc.213T>CSubstitution - coding silent
SLC45A4ENSG00000022567ENST00000024061p.G82Gc.246C>TSubstitution - coding silent
SETDB1ENSG00000143379ENST00000498193p.Y340Nc.1018T>ASubstitution - Missense
SLC11A2ENSG00000110911ENST00000394904p.?c.1434+2T>GUnknown
SIDT2ENSG00000149577ENST00000278951p.A665Tc.1993G>ASubstitution - Missense
CDC42BPAENSG00000143776ENST00000366765p.Q1125Lc.3374A>TSubstitution - Missense
RBMS3ENSG00000144642ENST00000456853p.P282Pc.846G>ASubstitution - coding silent
FNBP1ENSG00000187239ENST00000446176p.?c.1170+6T>CUnknown
CPSF6ENSG00000111605ENST00000266679p.R544*c.1630C>TSubstitution - Nonsense
CPNE6ENSG00000100884ENST00000537691p.L494Lc.1480C>TSubstitution - coding silent
USH2AENSG00000042781ENST00000366943p.A1466Ac.4398A>CSubstitution - coding silent
PPP6R2ENSG00000100239ENST00000216061p.S125fs*64c.371_372insTInsertion - Frameshift
ENST00000263817_v70p.F83fs*4c.249delTDeletion - Frameshift
TOM1ENSG00000100284ENST00000436462p.E232Gc.695A>GSubstitution - Missense
ENTPD6ENSG00000197586ENST00000433259p.R264Hc.791G>ASubstitution - Missense
COL21A1ENSG00000124749ENST00000535941p.R220Rc.658C>ASubstitution - coding silent
UNC5AENSG00000113763ENST00000261961p.R613Cc.1837C>TSubstitution - Missense
WNK2ENSG00000165238ENST00000395477p.T1087Tc.3261T>CSubstitution - coding silent
LARP7ENSG00000174720ENST00000324052p.T405fs*5c.1206delADeletion - Frameshift
WFDC6ENSG00000243543ENST00000372670p.C40Cc.120C>TSubstitution - coding silent
UNC5AENSG00000113763ENST00000329542p.R407Hc.1220G>ASubstitution - Missense
ENST00000541988p.R220Wc.658C>TSubstitution - Missense
HNRNPCENSG00000092199ENST00000320084p.R142Hc.425G>ASubstitution - Missense
CADPSENSG00000163618ENST00000283269p.A436Ac.1308C>TSubstitution - coding silent
IGSF9BENSG00000080854ENST00000321016p.T760Tc.2280G>ASubstitution - coding silent
GCNT2ENSG00000111846ENST00000316170p.H254fs*47c.754delCDeletion - Frameshift
ZNF311ENSG00000197935ENST00000377179p.T324fs*83c.970delADeletion - Frameshift
TTNENSG00000155657ENST00000359218p.R1304Cc.3910C>TSubstitution - Missense
XYLT2ENSG00000015532ENST00000017003p.G529fs*78c.1578delCDeletion - Frameshift
KMT2DENSG00000167548ENST00000301067p.R2410*c.7228C>TSubstitution - Nonsense
CREMENSG00000095794ENST00000395887p.?c.78+7G>AUnknown
COL17A1ENSG00000065618ENST00000353479p.A227Tc.679G>ASubstitution - Missense
RAG2ENSG00000175097ENST00000311485p.K119Rc.356A>GSubstitution - Missense
KIF20BENSG00000138182ENST00000416354p.S1105fs*18c.3307delADeletion - Frameshift
TAF3ENSG00000165632ENST00000344293p.V757Dc.2270T>ASubstitution - Missense
USH2AENSG00000042781ENST00000307340p.A1466Ac.4398A>CSubstitution - coding silent
SPERTENSG00000174015ENST00000310521p.P145Pc.435C>TSubstitution - coding silent
ARHGAP32ENSG00000134909ENST00000310343p.P234Pc.702C>TSubstitution - coding silent
FAM186BENSG00000135436ENST00000257894p.H96Rc.287A>GSubstitution - Missense
SLC4A8ENSG00000050438ENST00000358657p.I321fs*26c.955delADeletion - Frameshift
WNK1ENSG00000060237ENST00000537687p.R66Sc.196C>ASubstitution - Missense
E2F7ENSG00000165891ENST00000322886p.D575Yc.1723G>TSubstitution - Missense
OR56A1ENSG00000180934ENST00000316650p.F154Lc.460T>CSubstitution - Missense
ATP13A2ENSG00000159363ENST00000326735p.A761Vc.2282C>TSubstitution - Missense
EIF2B3ENSG00000070785ENST00000360403p.G144Sc.430G>ASubstitution - Missense
HIVEP3ENSG00000127124ENST00000372583p.R967Hc.2900G>ASubstitution - Missense
KIF14ENSG00000118193ENST00000367350p.N929fs*2c.2780_2781insAInsertion - Frameshift
RGS6ENSG00000182732ENST00000553525p.L377Lc.1131A>GSubstitution - coding silent
EIF3FENSG00000175390ENST00000537635p.V107Gc.320T>GSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.Y868Yc.2604C>TSubstitution - coding silent
NM_006312.2p.A1099Tc.3295G>ASubstitution - Missense
ABCB9ENSG00000150967ENST00000392439p.T290Tc.870C>ASubstitution - coding silent
ENSG00000268091ENST00000601092p.N131Nc.393C>TSubstitution - coding silent
CCDC62ENSG00000130783ENST00000341952p.P526fs*10c.1574delCDeletion - Frameshift
MYO5AENSG00000197535ENST00000399231p.W1729Cc.5187G>TSubstitution - Missense
TLN2ENSG00000171914ENST00000306829p.Q967Rc.2900A>GSubstitution - Missense
MYSM1ENSG00000162601ENST00000472487p.R401Cc.1201C>TSubstitution - Missense
MAP3K6ENSG00000142733ENST00000493901p.A629Tc.1885G>ASubstitution - Missense
FAM69AENSG00000154511ENST00000370310p.F30Lc.88T>CSubstitution - Missense
TGM3ENSG00000125780ENST00000381458p.E604Kc.1810G>ASubstitution - Missense
BARD1ENSG00000138376ENST00000260947p.P353Hc.1058C>ASubstitution - Missense
ZC3H15ENSG00000065548ENST00000337859p.G36*c.106G>TSubstitution - Nonsense
PTCH1ENSG00000185920ENST00000331920p.A521Vc.1562C>TSubstitution - Missense
CAMSAP3ENSG00000076826ENST00000160298p.R1040Qc.3119G>ASubstitution - Missense
POLD1ENSG00000062822ENST00000440232p.R443Wc.1327C>TSubstitution - Missense
ENST00000327867p.R407Hc.1220G>ASubstitution - Missense
SHANK1ENSG00000161681ENST00000293441p.I658Nc.1973T>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R283Hc.848G>ASubstitution - Missense
ZNF831ENSG00000124203ENST00000371030p.S206Fc.617C>TSubstitution - Missense
XM_290867.2p.?c.942-4C>AUnknown
ADAMTS5ENSG00000154736ENST00000284987p.G94Gc.282C>TSubstitution - coding silent
GBP1ENSG00000117228ENST00000370473p.V127Mc.379G>ASubstitution - Missense
MFSD6ENSG00000151690ENST00000392328p.R164Hc.491G>ASubstitution - Missense
MINK1ENSG00000141503ENST00000355280p.R1242Rc.3726C>TSubstitution - coding silent
OMA1ENSG00000162600ENST00000371226p.G399Gc.1197A>GSubstitution - coding silent
BHLHE22ENSG00000180828ENST00000321870p.T378Tc.1134G>TSubstitution - coding silent
MYO1BENSG00000128641ENST00000392318p.P288Sc.862C>TSubstitution - Missense
ENST00000246798p.L1205Lc.3615G>ASubstitution - coding silent
ENST00000221482p.A528Vc.1583C>TSubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.D436Nc.1306G>ASubstitution - Missense
APPL1ENSG00000157500ENST00000288266p.A531Tc.1591G>ASubstitution - Missense
MITFENSG00000187098ENST00000314589p.?c.714+6G>CUnknown
SMC5ENSG00000198887ENST00000361138p.T63Tc.189A>GSubstitution - coding silent
ENST00000250872p.I33Vc.97A>GSubstitution - Missense
BLMHENSG00000108578ENST00000261714p.V25Vc.75A>GSubstitution - coding silent
ICAM2ENSG00000108622ENST00000449662p.?c.650-10C>TUnknown
ENST00000005905p.A808Vc.2423C>TSubstitution - Missense
PKNOX1ENSG00000160199ENST00000291547p.Q294fs*55c.873_874insAInsertion - Frameshift
SCAF4ENSG00000156304ENST00000286835p.S448Cc.1343C>GSubstitution - Missense
WDR27ENSG00000184465ENST00000448612p.P196Lc.587C>TSubstitution - Missense
KRT20ENSG00000171431ENST00000167588p.L310Vc.928T>GSubstitution - Missense
SEC14L6ENSG00000214491ENST00000402034p.N84Nc.252C>TSubstitution - coding silent
ZNRF4ENSG00000105428ENST00000222033p.R391Hc.1172G>ASubstitution - Missense
POMKENSG00000185900ENST00000331373p.C244Yc.731G>ASubstitution - Missense
KIAA0195ENSG00000177728ENST00000314256p.S1296Rc.3886A>CSubstitution - Missense
CMTM3ENSG00000140931ENST00000424011p.A64Ac.192A>GSubstitution - coding silent
ELMO3ENSG00000102890ENST00000393997p.G629Rc.1885G>ASubstitution - Missense
TBC1D9BENSG00000197226ENST00000355235p.E765Ec.2295G>ASubstitution - coding silent
ULBP2ENSG00000131015ENST00000367351p.L105Lc.315G>ASubstitution - coding silent
MAP3K4ENSG00000085511ENST00000392142p.K535Kc.1605G>ASubstitution - coding silent
GIGYF2ENSG00000204120ENST00000373563p.T5Tc.15G>ASubstitution - coding silent
DMTF1ENSG00000135164ENST00000394703p.V753fs*5c.2257delGDeletion - Frameshift
ZNF92ENSG00000146757ENST00000328747p.K311Nc.933A>CSubstitution - Missense
EFEMP1ENSG00000115380ENST00000394554p.C365Yc.1094G>ASubstitution - Missense
ZNF431ENSG00000196705ENST00000311048p.R98Rc.294A>GSubstitution - coding silent
CYLC1ENSG00000183035ENST00000329312p.K361fs*27c.1078delADeletion - Frameshift
CCDC80ENSG00000091986ENST00000206423p.M11Vc.31A>GSubstitution - Missense
SBF1ENSG00000100241ENST00000380817p.T1845Tc.5535G>ASubstitution - coding silent
ENST00000357281p.?c.641+2T>CUnknown
ZNF14ENSG00000105708ENST00000344099p.G509Sc.1525G>ASubstitution - Missense
NEIL2ENSG00000154328ENST00000455213p.P326_E327insPc.977_978insGCCInsertion - In frame
DSTENSG00000151914ENST00000370754p.G324Gc.972A>GSubstitution - coding silent
DDX17ENSG00000100201ENST00000381633p.G84fs*20c.251delGDeletion - Frameshift
SHROOM2ENSG00000146950ENST00000380913p.D1520Gc.4559A>GSubstitution - Missense
DNMT1ENSG00000130816ENST00000340748p.R1261fs*20c.3781delCDeletion - Frameshift
STOX2ENSG00000173320ENST00000308497p.H353Rc.1058A>GSubstitution - Missense
ECHDC1ENSG00000093144ENST00000368289p.K39Kc.117A>GSubstitution - coding silent
SARDHENSG00000123453ENST00000371868p.S86Pc.256T>CSubstitution - Missense
GHDCENSG00000167925ENST00000414034p.P316fs*38c.947delCDeletion - Frameshift
CATSPERGENSG00000099338ENST00000409235p.S840Gc.2518A>GSubstitution - Missense
WDR87ENSG00000171804ENST00000447313p.E2227_V2228insEc.6680_6681insAGAInsertion - In frame
ENST00000378129p.P470Tc.1408C>ASubstitution - Missense
PCDHA1ENSG00000204970ENST00000504120p.L739Mc.2215C>ASubstitution - Missense
ENST00000402998p.E619*c.1855G>TSubstitution - Nonsense
ENST00000316490p.R4645Hc.13934G>ASubstitution - Missense
PDPRENSG00000090857ENST00000288050p.P556Lc.1667C>TSubstitution - Missense
PCDHAC1ENSG00000248383ENST00000253807p.K946Rc.2837A>GSubstitution - Missense
ZMYND8ENSG00000101040ENST00000536340p.N1191fs*>51c.3570delCDeletion - Frameshift
ZNF229ENSG00000167383ENST00000291187p.I336Tc.1007T>CSubstitution - Missense
TNXBENSG00000168477ENST00000375247p.Y2678Cc.8033A>GSubstitution - Missense
ENST00000318560_v70p.A137Tc.409G>ASubstitution - Missense
C9orf117ENSG00000160401ENST00000373295p.A121Vc.362C>TSubstitution - Missense
DOCK2ENSG00000134516ENST00000256935p.T220fs*8c.653delCDeletion - Frameshift
SCN1AENSG00000144285ENST00000303395p.K756Kc.2268A>GSubstitution - coding silent
SCN1AENSG00000144285ENST00000375405p.K745Kc.2235A>GSubstitution - coding silent
PCDHGB2ENSG00000253910ENST00000522605p.R518Cc.1552C>TSubstitution - Missense
PCDHGA12ENSG00000253159ENST00000252085p.D237Gc.710A>GSubstitution - Missense
KCNT1ENSG00000107147ENST00000298480p.R928Hc.2783G>ASubstitution - Missense
PCDHA8ENSG00000204962ENST00000378123p.V126Ac.377T>CSubstitution - Missense
NOS3ENSG00000164867ENST00000297494p.A252Vc.755C>TSubstitution - Missense
ENST00000449046_v65p.M544Tc.1631T>CSubstitution - Missense
MDN1ENSG00000112159ENST00000369393p.V4283Ac.12848T>CSubstitution - Missense
ZNF777ENSG00000196453ENST00000247930p.Q537Qc.1611G>ASubstitution - coding silent
DNAH5ENSG00000039139ENST00000265104p.G2754Gc.8262T>GSubstitution - coding silent
ZNF234ENSG00000263002ENST00000426739p.G284Vc.851G>TSubstitution - Missense
JAKMIP1ENSG00000152969ENST00000282924p.A503Tc.1507G>ASubstitution - Missense
KDRENSG00000128052ENST00000263923p.E979Gc.2936A>GSubstitution - Missense
RTDR1ENSG00000100218ENST00000216036p.K130Tc.389A>CSubstitution - Missense
ENST00000248069p.Y110Yc.330C>TSubstitution - coding silent
ABCA3ENSG00000167972ENST00000301732p.Y492fs*18c.1473_1474insTInsertion - Frameshift
NM_006622p.D594Gc.1781A>GSubstitution - Missense
PLEKHG4BENSG00000153404ENST00000283426p.A989Tc.2965G>ASubstitution - Missense
BAK1ENSG00000030110ENST00000374467p.Y38Hc.112T>CSubstitution - Missense
SCUBE3ENSG00000146197ENST00000274938p.T150Ac.448A>GSubstitution - Missense
HSP90AB1ENSG00000096384ENST00000371646p.S383Yc.1148C>ASubstitution - Missense
HYDINENSG00000157423ENST00000288168p.K165Qc.493A>CSubstitution - Missense
RPL12ENSG00000197958ENST00000361436p.R57Rc.169A>CSubstitution - coding silent
ACAP2ENSG00000114331ENST00000326793p.R442Qc.1325G>ASubstitution - Missense
SFR1ENSG00000156384ENST00000336358p.Q91Rc.272A>GSubstitution - Missense
MYO10ENSG00000145555ENST00000513610p.S1226fs*25c.3674_3675insGInsertion - Frameshift
FBXO32ENSG00000156804ENST00000517956p.?c.978+2T>CUnknown
ADAMTS20ENSG00000173157ENST00000553158p.A4Tc.10G>ASubstitution - Missense
SUPT20HENSG00000102710ENST00000360252p.T483Tc.1449A>GSubstitution - coding silent
ESR2ENSG00000140009ENST00000357782p.R93Cc.277C>TSubstitution - Missense
C14orf80ENSG00000185347ENST00000329886p.T313Tc.939G>ASubstitution - coding silent
ZNF687ENSG00000143373ENST00000368879p.P698fs*15c.2088delCDeletion - Frameshift
C19orf55ENSG00000167595ENST00000535581p.?c.311+6T>CUnknown
NRP2ENSG00000118257ENST00000540841p.D788Gc.2363A>GSubstitution - Missense
UBALD1ENSG00000153443ENST00000590891p.P176Pc.528G>ASubstitution - coding silent
JAKMIP2ENSG00000176049ENST00000507386p.Q20Kc.58C>ASubstitution - Missense
MICAL1ENSG00000135596ENST00000368952p.V186Vc.558A>GSubstitution - coding silent
SLC9B1P1ENSG00000183704ENST00000331172p.V239Ic.715G>ASubstitution - Missense
OR5P2ENSG00000183303ENST00000329434p.E107Kc.319G>ASubstitution - Missense
B3GNT2ENSG00000170340ENST00000301998p.A171Tc.511G>ASubstitution - Missense
MAP2K4ENSG00000065559ENST00000353533p.A279Tc.835G>ASubstitution - Missense
BAATENSG00000136881ENST00000259407p.R297Hc.890G>ASubstitution - Missense
RBM47ENSG00000163694ENST00000381795p.H296Yc.886C>TSubstitution - Missense
CLCNKBENSG00000184908ENST00000375679p.L387Lc.1161G>TSubstitution - coding silent
CCKBRENSG00000110148ENST00000334619p.L344fs*35c.1022delTDeletion - Frameshift
CENPCENSG00000145241ENST00000273853p.R206fs*2c.616delADeletion - Frameshift
ENST00000356127p.R1350Cc.4048C>TSubstitution - Missense
TTNENSG00000155657ENST00000360870p.R1350Cc.4048C>TSubstitution - Missense
RBP4ENSG00000138207ENST00000371467p.L81Lc.243T>CSubstitution - coding silent
SNX33ENSG00000173548ENST00000308527p.Q552Qc.1656G>ASubstitution - coding silent
CELF1ENSG00000149187ENST00000358597p.C137Yc.410G>ASubstitution - Missense
TECTAENSG00000109927ENST00000392793p.C1425Cc.4275C>TSubstitution - coding silent
NM_018113.1p.?c.754+6T>AUnknown
ATP2B1ENSG00000070961ENST00000261173p.P1180Tc.3538C>ASubstitution - Missense
C15orf40ENSG00000169609ENST00000451195p.A66Vc.197C>TSubstitution - Missense
ENSG00000166503ENST00000299633p.K145fs*>59c.435delADeletion - Frameshift
OR10V1ENSG00000172289ENST00000307552p.V93Ic.277G>ASubstitution - Missense
BRCA2ENSG00000139618ENST00000380152p.V295Lc.883G>TSubstitution - Missense
NM_015133.2p.L431Qc.1292T>ASubstitution - Missense
SIDT2ENSG00000149577ENST00000324225p.A644Tc.1930G>ASubstitution - Missense
ENST00000299218p.L428Pc.1283T>CSubstitution - Missense
PRG4ENSG00000116690ENST00000445192p.S1174Sc.3522T>CSubstitution - coding silent
KPRPENSG00000203786ENST00000368773p.S239Sc.717C>ASubstitution - coding silent
BCL11BENSG00000127152ENST00000357195p.G451Gc.1353C>TSubstitution - coding silent
MAP3K6ENSG00000142733ENST00000374040p.A621Tc.1861G>ASubstitution - Missense
SLC17A8ENSG00000179520ENST00000323346p.H181Rc.542A>GSubstitution - Missense
TCF7L2ENSG00000148737ENST00000355717p.S180fs*13c.531delCDeletion - Frameshift
AADACL3ENSG00000188984ENST00000332530p.G68Gc.204A>GSubstitution - coding silent
LGALS12ENSG00000133317ENST00000394618p.E178Dc.534G>TSubstitution - Missense
RPP38ENSG00000152464ENST00000378203p.V20Ac.59T>CSubstitution - Missense
BACE1ENSG00000186318ENST00000313005p.A374Vc.1121C>TSubstitution - Missense
ZNF710ENSG00000140548ENST00000268154p.P326Pc.978A>GSubstitution - coding silent
IRF2BPLENSG00000119669ENST00000238647p.A44Ac.132T>CSubstitution - coding silent
BCL9ENSG00000116128ENST00000234739p.A1028Ac.3084T>CSubstitution - coding silent
MAGI3ENSG00000081026ENST00000307546p.V1336Gc.4007T>GSubstitution - Missense
CFHR5ENSG00000134389ENST00000367414p.T515Tc.1545A>GSubstitution - coding silent
DDX59ENSG00000118197ENST00000331314p.Q574Qc.1722G>ASubstitution - coding silent
TMC7ENSG00000170537ENST00000304381p.R357Hc.1070G>ASubstitution - Missense
RASAL2ENSG00000075391ENST00000367649p.R1179Wc.3535C>TSubstitution - Missense
TYRENSG00000077498ENST00000263321p.P152Sc.454C>TSubstitution - Missense
SFSWAPENSG00000061936ENST00000261674p.K171Ec.511A>GSubstitution - Missense
AP4S1ENSG00000100478ENST00000216366p.?c.367-3T>AUnknown
GBAENSG00000177628ENST00000368373p.K512Kc.1536G>ASubstitution - coding silent
GATAD2BENSG00000143614ENST00000368655p.S404Nc.1211G>ASubstitution - Missense
PCNXL4ENSG00000126773ENST00000406854p.?c.1357+1G>AUnknown
CEP128ENSG00000100629ENST00000281129p.R94Hc.281G>ASubstitution - Missense
DOCK7ENSG00000116641ENST00000340370p.E1425Ec.4275G>ASubstitution - coding silent
INO80DENSG00000114933ENST00000403263p.N743Tc.2228A>CSubstitution - Missense
CHD7ENSG00000171316ENST00000423902p.Q2431Hc.7293G>TSubstitution - Missense
SLC9A8ENSG00000197818ENST00000417961p.H77Rc.230A>GSubstitution - Missense
KIAA0355ENSG00000166398ENST00000299505p.A767Dc.2300C>ASubstitution - Missense
TP53ENSG00000141510ENST00000420246p.?c.994-9A>CUnknown
ERCC6L2ENSG00000182150ENST00000407474p.R273Hc.818G>ASubstitution - Missense
OSGIN2ENSG00000164823ENST00000451899p.A522Vc.1565C>TSubstitution - Missense
CRLS1ENSG00000088766ENST00000378863p.Y264Yc.792T>CSubstitution - coding silent
BPTFENSG00000171634ENST00000306378p.K2592fs*36c.7770delADeletion - Frameshift
PRKCDENSG00000163932ENST00000394729p.L380Pc.1139T>CSubstitution - Missense
DSC1ENSG00000134765ENST00000257197p.G401Gc.1203A>GSubstitution - coding silent
ODAMENSG00000109205ENST00000396094p.L77Fc.231A>CSubstitution - Missense
PARP12ENSG00000059378ENST00000263549p.C323Yc.968G>ASubstitution - Missense
TOX3ENSG00000103460ENST00000219746p.G425Dc.1274G>ASubstitution - Missense
FAM83HENSG00000180921ENST00000388913p.S1085Fc.3254C>TSubstitution - Missense
NOP58ENSG00000055044ENST00000264279p.K442fs*4c.1321delADeletion - Frameshift
WIPF1ENSG00000115935ENST00000392546p.A394Vc.1181C>TSubstitution - Missense
EWSR1ENSG00000182944ENST00000397938p.S326Gc.976A>GSubstitution - Missense
LILRB2ENSG00000131042ENST00000314446p.G51Vc.152G>TSubstitution - Missense
LMF1ENSG00000103227ENST00000262301p.?c.1233-7C>TUnknown
PPP3CAENSG00000138814ENST00000394854p.F334Lc.1000T>CSubstitution - Missense
FNDC4ENSG00000115226ENST00000264703p.S11fs*28c.22_23insCInsertion - Frameshift
IBSPENSG00000029559ENST00000226284p.L107Vc.319C>GSubstitution - Missense
ZNF446ENSG00000083838ENST00000335841p.L214Lc.640C>TSubstitution - coding silent
ERASENSG00000187682ENST00000338270p.A175fs*>59c.518delGDeletion - Frameshift
GGA3ENSG00000125447ENST00000245541p.E331Dc.993G>CSubstitution - Missense
NM_152536.2p.S9Nc.26G>ASubstitution - Missense
SH3BP5ENSG00000131370ENST00000383791p.S279Nc.836G>ASubstitution - Missense
CD36ENSG00000135218ENST00000435819p.F135Lc.403T>CSubstitution - Missense
DNAH8ENSG00000124721ENST00000359357p.V722Vc.2166T>CSubstitution - coding silent
CCDC114ENSG00000105479ENST00000315396p.A510_K511insAc.1515_1516insGCCInsertion - In frame
CCDC114ENSG00000105479ENST00000315396p.A303_K304insAc.894_895insGCCInsertion - In frame
EPHB1ENSG00000154928ENST00000398015p.R663Wc.1987C>TSubstitution - Missense
ATRXENSG00000085224ENST00000373344p.?c.4810-9T>AUnknown
FAM69CENSG00000187773ENST00000343998p.A378Ac.1134G>ASubstitution - coding silent
ROS1ENSG00000047936ENST00000368507p.D320Nc.958G>ASubstitution - Missense
TLR3ENSG00000164342ENST00000296795p.A69Tc.205G>ASubstitution - Missense
COL15A1ENSG00000204291ENST00000375001p.G838Sc.2512G>ASubstitution - Missense
PPP2R2BENSG00000156475ENST00000394413p.R140Wc.418C>TSubstitution - Missense
CACNA1GENSG00000006283ENST00000354983p.G1159Vc.3476G>TSubstitution - Missense
KRT13ENSG00000171401ENST00000246635p.Y281Yc.843C>TSubstitution - coding silent
ZNF181ENSG00000197841ENST00000492450p.A534Vc.1601C>TSubstitution - Missense
MPP3ENSG00000161647ENST00000398389p.?c.26-4C>AUnknown
LUC7L3ENSG00000108848ENST00000505658p.R246Cc.736C>TSubstitution - Missense
PPP1R26ENSG00000196422ENST00000356818p.R673Hc.2018G>ASubstitution - Missense
SPATA31E1ENSG00000177992ENST00000325643p.G980Gc.2940G>ASubstitution - coding silent
FZD6ENSG00000164930ENST00000522566p.E599Gc.1796A>GSubstitution - Missense
PCDHA12ENSG00000251664ENST00000398631p.K924Rc.2771A>GSubstitution - Missense
TBRG4ENSG00000136270ENST00000258770p.A459Tc.1375G>ASubstitution - Missense
SPTBN4ENSG00000160460ENST00000392023p.A387Ac.1161G>ASubstitution - coding silent
DHX16ENSG00000204560ENST00000376442p.L789Lc.2367G>TSubstitution - coding silent
NM_002711.2p.P404Pc.1212T>GSubstitution - coding silent
SPDYE1ENSG00000136206ENST00000258704p.F170Lc.508T>CSubstitution - Missense
ANO8ENSG00000074855ENST00000159087p.R215Cc.643C>TSubstitution - Missense
USHBP1ENSG00000130307ENST00000252597p.L185Lc.553C>TSubstitution - coding silent
LYPD3ENSG00000124466ENST00000244333p.G206Vc.617G>TSubstitution - Missense
NEBENSG00000183091ENST00000427231p.R1229Gc.3685A>GSubstitution - Missense
NEBENSG00000183091ENST00000427231p.T1139Tc.3417G>ASubstitution - coding silent
ESM1ENSG00000164283ENST00000381405p.C51fs*25c.152delGDeletion - Frameshift
B3GALT4ENSG00000235863ENST00000451237p.P54Sc.160C>TSubstitution - Missense
LRSAM1ENSG00000148356ENST00000373322p.F203Sc.608T>CSubstitution - Missense
TPRG1ENSG00000188001ENST00000345063p.S172Gc.514A>GSubstitution - Missense
ABL1ENSG00000097007ENST00000318560p.A137Tc.409G>ASubstitution - Missense
SENP2ENSG00000163904ENST00000296257p.L574Fc.1720C>TSubstitution - Missense
CDK5RAP2ENSG00000136861ENST00000349780p.D881Nc.2641G>ASubstitution - Missense
FOXJ2ENSG00000065970ENST00000428177p.G513Gc.1539T>CSubstitution - coding silent
PPFIA2ENSG00000139220ENST00000333447p.L1079Lc.3235C>TSubstitution - coding silent
LRRC56ENSG00000161328ENST00000270115p.?c.1315+9C>AUnknown
TMCC2ENSG00000133069ENST00000367159p.D115Dc.345C>TSubstitution - coding silent
USH2AENSG00000042781ENST00000366942p.A1466Ac.4398A>CSubstitution - coding silent
CDC42BPAENSG00000143776ENST00000366765p.P1126Lc.3377C>TSubstitution - Missense
FLG2ENSG00000143520ENST00000388718p.S1019Sc.3057A>GSubstitution - coding silent
RGS6ENSG00000182732ENST00000554782p.L238Lc.714A>GSubstitution - coding silent
ESR2ENSG00000140009ENST00000557772p.R93Cc.277C>TSubstitution - Missense
NEK11ENSG00000114670ENST00000511262p.L282Fc.846A>TSubstitution - Missense
MAP3K3ENSG00000198909ENST00000361357p.R24Wc.70C>TSubstitution - Missense
ENST00000586406p.Y144Yc.432T>CSubstitution - coding silent
GLOD4ENSG00000167699ENST00000301328p.G91Gc.273C>TSubstitution - coding silent
SH3BP1ENSG00000100092ENST00000336738p.R408Wc.1222C>TSubstitution - Missense
ENST00000258062_v70p.R183Hc.548G>ASubstitution - Missense
SLC45A2ENSG00000164175ENST00000345083p.C48Wc.144C>GSubstitution - Missense
UGT1A3ENSG00000243135ENST00000482026p.G471Gc.1413C>TSubstitution - coding silent
UGT1A9ENSG00000241119ENST00000354728p.G467Gc.1401C>TSubstitution - coding silent
PIAS3ENSG00000131788ENST00000393045p.A602fs*2c.1798delGDeletion - Frameshift
FNDC1ENSG00000164694ENST00000297267p.F1770Fc.5310C>TSubstitution - coding silent
SLC24A4ENSG00000140090ENST00000532405p.F255fs*40c.760delTDeletion - Frameshift
SCN10AENSG00000185313ENST00000449082p.L1428fs*44c.4280_4281insAInsertion - Frameshift
COL11A1ENSG00000060718ENST00000370096p.?c.2043+3A>GUnknown
TDRD3ENSG00000083544ENST00000535286p.R499fs*28c.1489delADeletion - Frameshift
PEAK1ENSG00000173517ENST00000312493p.P1467Pc.4401A>GSubstitution - coding silent
KCNK2ENSG00000082482ENST00000391894p.D8Dc.24T>CSubstitution - coding silent
NRP1ENSG00000099250ENST00000374816p.S170Nc.509G>ASubstitution - Missense
TMBIM4ENSG00000155957ENST00000358230p.T139Tc.417T>GSubstitution - coding silent
INHBCENSG00000175189ENST00000309668p.A86fs*12c.256_257insGInsertion - Frameshift
FOXJ2ENSG00000065970ENST00000162391p.?c.1537+2T>CUnknown
ENST00000344698_v71p.S692Sc.2076C>TSubstitution - coding silent
SLCO1C1ENSG00000139155ENST00000381552p.W275Cc.825G>TSubstitution - Missense
IPO4ENSG00000196497ENST00000354464p.S143Tc.428G>CSubstitution - Missense
JPH4ENSG00000092051ENST00000356300p.A475Ac.1425C>TSubstitution - coding silent
RIPK3ENSG00000129465ENST00000216274p.P493fs*9c.1469_1470insCInsertion - Frameshift
ADCY4ENSG00000129467ENST00000310677p.R825Rc.2473A>CSubstitution - coding silent
DUSP5ENSG00000138166ENST00000369583p.L223Ic.667C>ASubstitution - Missense
HNRNPUENSG00000153187ENST00000283179p.F283Lc.847T>CSubstitution - Missense
BSCL2ENSG00000168000ENST00000433053p.P25Rc.74C>GSubstitution - Missense
OR52B1PENSG00000180909ENST00000316506p.A128Ac.384C>GSubstitution - coding silent
SORCS1ENSG00000108018ENST00000344440p.N357Ic.1070A>TSubstitution - Missense
ISL2ENSG00000159556ENST00000290759p.C117Rc.349T>CSubstitution - Missense
NPTNENSG00000156642ENST00000345330p.G3Rc.7G>CSubstitution - Missense
ACSBG1ENSG00000103740ENST00000258873p.A266Tc.796G>ASubstitution - Missense
EPS8ENSG00000151491ENST00000281172p.H337Rc.1010A>GSubstitution - Missense
ENST00000268134p.E1333Gc.3998A>GSubstitution - Missense
ATE1ENSG00000107669ENST00000224652p.V93Gc.278T>GSubstitution - Missense
CHD8ENSG00000100888ENST00000430710p.P1922Sc.5764C>TSubstitution - Missense
SLC41A2ENSG00000136052ENST00000258538p.M490Tc.1469T>CSubstitution - Missense
STAB2ENSG00000136011ENST00000388887p.D1870Gc.5609A>GSubstitution - Missense
DNM3ENSG00000197959ENST00000358155p.I479Vc.1435A>GSubstitution - Missense
BRCA2ENSG00000139618ENST00000544455p.N863fs*11c.2582delADeletion - Frameshift
SU_KSR2p.L124Lc.372A>GSubstitution - coding silent
CD101ENSG00000134256ENST00000369470p.R311Hc.932G>ASubstitution - Missense
ZNF195ENSG00000005801ENST00000354599p.I493Ic.1479T>CSubstitution - coding silent
CPSF6ENSG00000111605ENST00000435070p.R507*c.1519C>TSubstitution - Nonsense
KCNC2ENSG00000166006ENST00000298972p.C125Rc.373T>CSubstitution - Missense
ENST00000339192p.?c.1389+4C>TUnknown
CERS3ENSG00000154227ENST00000284382p.Y189fs*18c.565delTDeletion - Frameshift
FOXN3ENSG00000053254ENST00000557258p.S410Sc.1230C>TSubstitution - coding silent
ARHGAP11AENSG00000198826ENST00000361627p.I249Tc.746T>CSubstitution - Missense
WFDC1ENSG00000103175ENST00000219454p.?c.562+8T>GUnknown
CDC27ENSG00000004897ENST00000066544p.S51Tc.151T>ASubstitution - Missense
APOBENSG00000084674ENST00000233242p.A984Tc.2950G>ASubstitution - Missense
CHD7ENSG00000171316ENST00000423902p.D1765Gc.5294A>GSubstitution - Missense
TGS1ENSG00000137574ENST00000260129p.G559fs*2c.1674_1675insAInsertion - Frameshift
XM_290732.4p.S267Sc.801C>TSubstitution - coding silent
RPN2ENSG00000118705ENST00000237530p.L194Lc.582C>TSubstitution - coding silent
PTPRGENSG00000144724ENST00000474889p.?c.2375+9C>TUnknown
FAM222BENSG00000173065ENST00000341217p.P240Pc.720G>ASubstitution - coding silent
FLNBENSG00000136068ENST00000490882p.H532fs*9c.1592_1593insGInsertion - Frameshift
DSC1ENSG00000134765ENST00000257198p.G401Gc.1203A>GSubstitution - coding silent
RIPK4ENSG00000183421ENST00000332512p.A462Ac.1386C>TSubstitution - coding silent
RIPK4ENSG00000183421ENST00000332512p.G449Rc.1345G>ASubstitution - Missense
RIPK4ENSG00000183421ENST00000352483p.G497Rc.1489G>ASubstitution - Missense
PRDM15ENSG00000141956ENST00000269844p.Q1228Qc.3684G>ASubstitution - coding silent
KRTAP10-11ENSG00000243489ENST00000334670p.C249Fc.746G>TSubstitution - Missense
ZNF44ENSG00000197857ENST00000426973p.A250Ac.750T>CSubstitution - coding silent
DOK7ENSG00000175920ENST00000340083p.Q460fs*41c.1373delCDeletion - Frameshift
ZBTB49ENSG00000168826ENST00000337872p.A576Vc.1727C>TSubstitution - Missense
ATP10DENSG00000145246ENST00000273859p.C719Cc.2157C>TSubstitution - coding silent
RBM5ENSG00000003756ENST00000347869p.A661Tc.1981G>ASubstitution - Missense
BTN3A2ENSG00000186470ENST00000527422p.L261Lc.781C>TSubstitution - coding silent
ANKRD30BENSG00000180777ENST00000358984p.V89Vc.267A>TSubstitution - coding silent
MYH10ENSG00000133026ENST00000269243p.L1801Lc.5403G>TSubstitution - coding silent
EPG5ENSG00000152223ENST00000282041p.?c.1943+7C>TUnknown
ASXL2ENSG00000143970ENST00000435504p.S1392Sc.4176C>TSubstitution - coding silent
NDUFA3ENSG00000170906ENST00000419113p.T49Tc.147G>ASubstitution - coding silent
SEZ6LENSG00000100095ENST00000248933p.N126Kc.378C>GSubstitution - Missense
SCN11AENSG00000168356ENST00000302328p.V556Mc.1666G>ASubstitution - Missense
GLOD4ENSG00000167699ENST00000301329p.G76Gc.228C>TSubstitution - coding silent
KIAA0195ENSG00000177728ENST00000314256p.?c.613-5G>AUnknown
EVX1ENSG00000106038ENST00000496902p.W230*c.690G>ASubstitution - Nonsense
CRHR2ENSG00000106113ENST00000341843p.A376Vc.1127C>TSubstitution - Missense
ENST00000328380p.P1103Tc.3307C>ASubstitution - Missense
IQCA1ENSG00000132321ENST00000409907p.Y402Hc.1204T>CSubstitution - Missense
WDR33ENSG00000136709ENST00000322313p.P1056fs*225c.3167delCDeletion - Frameshift
GLP1RENSG00000112164ENST00000373256p.A238Vc.713C>TSubstitution - Missense
PARVGENSG00000138964ENST00000422871p.L136Pc.407T>CSubstitution - Missense
ACRCENSG00000147174ENST00000373695p.D246Nc.736G>ASubstitution - Missense
CYLC1ENSG00000183035ENST00000329312p.K361fs*27c.1078delADeletion - Frameshift
PIK3R1ENSG00000145675ENST00000336483p.Y2Fc.5A>TSubstitution - Missense
ADCY2ENSG00000078295ENST00000537121p.F520Sc.1559T>CSubstitution - Missense
MTMR8ENSG00000102043ENST00000374852p.A319Ac.957T>CSubstitution - coding silent
PKHD1L1ENSG00000205038ENST00000378402p.C3475Rc.10423T>CSubstitution - Missense
EPHA4ENSG00000116106ENST00000281821p.Y298Yc.894C>TSubstitution - coding silent
KIF6ENSG00000164627ENST00000287152p.?c.1755-10T>CUnknown
TFR2ENSG00000106327ENST00000223051p.H518Rc.1553A>GSubstitution - Missense
SPDYE2BENSG00000173678ENST00000436228p.D222Ec.666C>GSubstitution - Missense
CLDN15ENSG00000106404ENST00000308344p.G131Rc.391G>ASubstitution - Missense
NM_001371.1p.V722Vc.2166T>CSubstitution - coding silent
CD200R1ENSG00000163606ENST00000440122p.T58Ac.172A>GSubstitution - Missense
DPP7ENSG00000176978ENST00000371579p.R489fs*>4c.1461delGDeletion - Frameshift
ERAP2ENSG00000164308ENST00000437043p.Y631Yc.1893C>TSubstitution - coding silent
ZDHHC11ENSG00000188818ENST00000283441p.T230Ic.689C>TSubstitution - Missense
TRIOBPENSG00000100106ENST00000406386p.R1179Cc.3535C>TSubstitution - Missense
TRIOBPENSG00000100106ENST00000406386p.I1218Ic.3654C>TSubstitution - coding silent
PDGFCENSG00000145431ENST00000502773p.G19Wc.55G>TSubstitution - Missense
TEX14ENSG00000121101ENST00000349033p.L556Pc.1667T>CSubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.L1609Lc.4825C>TSubstitution - coding silent
NBR1ENSG00000188554ENST00000422280p.R223Rc.669G>ASubstitution - coding silent
PCDHA3ENSG00000255408ENST00000522353p.K933Rc.2798A>GSubstitution - Missense
SLFN12ENSG00000172123ENST00000394562p.G74Rc.220G>ASubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.A1227Vc.3680C>TSubstitution - Missense
VPS4AENSG00000132612ENST00000254950p.P311Sc.931C>TSubstitution - Missense
ENST00000402998p.?c.3129-9T>CUnknown
ABCA13ENSG00000179869ENST00000435803p.?c.2005+9G>AUnknown
SPTBN4ENSG00000160460ENST00000352632p.L2449Fc.7345C>TSubstitution - Missense
INTS1ENSG00000164880ENST00000389470p.T614Nc.1841C>ASubstitution - Missense
SRP72ENSG00000174780ENST00000342756p.K457Kc.1371A>GSubstitution - coding silent
ERMNENSG00000136541ENST00000397283p.Q113Kc.337C>ASubstitution - Missense
CCDC152ENSG00000198865ENST00000361970p.?c.88-5T>CUnknown
SIN3BENSG00000127511ENST00000379803p.R1077Hc.3230G>ASubstitution - Missense
OR10H3ENSG00000171936ENST00000305892p.L131Lc.391C>TSubstitution - coding silent
HYDINENSG00000157423ENST00000321489p.A672Vc.2015C>TSubstitution - Missense
CD38ENSG00000004468ENST00000226279p.T148Tc.444G>ASubstitution - coding silent
NM_052909.1p.A180Tc.538G>ASubstitution - Missense
VARSENSG00000204394ENST00000375663p.V516Mc.1546G>ASubstitution - Missense
DHX36ENSG00000174953ENST00000544526p.D548Gc.1643A>GSubstitution - Missense
COL16A1ENSG00000084636ENST00000271069p.A713Vc.2138C>TSubstitution - Missense
ROS1ENSG00000047936ENST00000403284p.S14Nc.41G>ASubstitution - Missense
NM_002467.2p.L149Vc.445C>GSubstitution - Missense
OR5W2ENSG00000187612ENST00000344514p.S64Nc.191G>ASubstitution - Missense
ENST00000344371p.R39Qc.116G>ASubstitution - Missense
LSM14BENSG00000149657ENST00000400318p.Y9Nc.25T>ASubstitution - Missense
ABLIM3ENSG00000173210ENST00000504238p.Y24Cc.71A>GSubstitution - Missense
DHX16ENSG00000204560ENST00000376437p.L308Lc.924G>TSubstitution - coding silent
NRP1ENSG00000099250ENST00000265371p.S170Nc.509G>ASubstitution - Missense
EP300ENSG00000100393ENST00000263253p.R1599Hc.4796G>ASubstitution - Missense
MBNL1ENSG00000152601ENST00000282486p.R279Qc.836G>ASubstitution - Missense
RBM47ENSG00000163694ENST00000381793p.H296Yc.886C>TSubstitution - Missense
PCDHGA1ENSG00000204956ENST00000378105p.A696Vc.2087C>TSubstitution - Missense
UNC5AENSG00000113763ENST00000329542p.R653Cc.1957C>TSubstitution - Missense
TRHDEENSG00000072657ENST00000261180p.R707Wc.2119C>TSubstitution - Missense
ITIH6ENSG00000102313ENST00000218436p.R200Hc.599G>ASubstitution - Missense
TMEM246ENSG00000165152ENST00000374848p.R99fs*5c.295delCDeletion - Frameshift
WNK4ENSG00000126562ENST00000246914p.V608fs*53c.1816delGDeletion - Frameshift
PCDHB1ENSG00000171815ENST00000306549p.N496fs*12c.1482delADeletion - Frameshift
TEX11ENSG00000120498ENST00000374333p.S8fs*31c.22delTDeletion - Frameshift
FLG2ENSG00000143520ENST00000388718p.S1017Sc.3051T>ASubstitution - coding silent
AKAP13ENSG00000170776ENST00000394518p.K2787fs*>27c.8353delADeletion - Frameshift
ENST00000317013p.F74fs*15c.222delTDeletion - Frameshift
CRY1ENSG00000008405ENST00000008527p.L96Vc.286C>GSubstitution - Missense
FLG2ENSG00000143520ENST00000388718p.G1033Gc.3099C>TSubstitution - coding silent
NM_172373.2p.?c.253+5G>AUnknown
LAMB3ENSG00000196878ENST00000367030p.C401fs*10c.1201_1202delTGDeletion - Frameshift
CDC42BPAENSG00000143776ENST00000366769p.Q1112Lc.3335A>TSubstitution - Missense
ANKRD30AENSG00000148513ENST00000602533p.N1326fs*>16c.3972delADeletion - Frameshift
COL11A1ENSG00000060718ENST00000370096p.L722Rc.2165T>GSubstitution - Missense
SLCO1A2ENSG00000084453ENST00000390670p.C463Yc.1388G>ASubstitution - Missense
ENST00000327087_v68p.R155Wc.463C>TSubstitution - Missense
PTGES3ENSG00000110958ENST00000262033p.?c.463+8T>CUnknown
E2F7ENSG00000165891ENST00000322886p.D575Yc.1723G>TSubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.?c.12146-7T>CUnknown
CD163ENSG00000177575ENST00000396620p.I430Ic.1290C>TSubstitution - coding silent
NUP98ENSG00000110713ENST00000324932p.?c.2260+3A>GUnknown
KRT82ENSG00000161850ENST00000257974p.P8Rc.23C>GSubstitution - Missense
XPOTENSG00000184575ENST00000332707p.T598Ac.1792A>GSubstitution - Missense
CORO1BENSG00000172725ENST00000341356p.A49Vc.146C>TSubstitution - Missense
ZNF839ENSG00000022976ENST00000442396p.T106Ac.316A>GSubstitution - Missense
RGS7ENSG00000182901ENST00000366565p.?c.1269+9A>GUnknown
WDR74ENSG00000133316ENST00000525239p.H69Qc.207C>ASubstitution - Missense
SORCS1ENSG00000108018ENST00000263054p.N357Ic.1070A>TSubstitution - Missense
NT5DC3ENSG00000111696ENST00000392876p.?c.468+6T>CUnknown
OTUD7AENSG00000169918ENST00000307050p.R185Hc.554G>ASubstitution - Missense
IGSF9ENSG00000085552ENST00000361509p.D283Dc.849C>TSubstitution - coding silent
B4GALT3ENSG00000158850ENST00000367998p.H136Rc.407A>GSubstitution - Missense
NFYCENSG00000066136ENST00000308733p.S356fs*25c.1065_1066insCInsertion - Frameshift
CGP_EPHA10.1p.A633Pc.1897G>CSubstitution - Missense
CHATENSG00000070748ENST00000395562p.R104Pc.311G>CSubstitution - Missense
SSTR5ENSG00000162009ENST00000397547p.V45fs*27c.133delGDeletion - Frameshift
ENST00000238613p.T2Sc.4A>TSubstitution - Missense
C1orf167ENSG00000215910ENST00000433342p.T1063Ic.3188C>TSubstitution - Missense
RLFENSG00000117000ENST00000372771p.?c.392+9G>CUnknown
DDI1ENSG00000170967ENST00000302259p.G300Sc.898G>ASubstitution - Missense
TAS1R2ENSG00000179002ENST00000375371p.T163Tc.489C>ASubstitution - coding silent
DNAH10ENSG00000197653ENST00000409039p.?c.1935+4C>TUnknown
KRR1ENSG00000111615ENST00000229214p.Y266Yc.798T>CSubstitution - coding silent
ATP2B4ENSG00000058668ENST00000367218p.R599Hc.1796G>ASubstitution - Missense
FRMD6ENSG00000139926ENST00000395718p.A408Tc.1222G>ASubstitution - Missense
RFWD3ENSG00000168411ENST00000361070p.G637Gc.1911C>TSubstitution - coding silent
SGIP1ENSG00000118473ENST00000371037p.T421Ic.1262C>TSubstitution - Missense
DAOAENSG00000182346ENST00000375936p.E127Dc.381A>CSubstitution - Missense
ZNF133ENSG00000125846ENST00000377671p.V629Ac.1886T>CSubstitution - Missense
SIRPGENSG00000089012ENST00000303415p.K386Rc.1157A>GSubstitution - Missense
NM_018993.2p.L390Lc.1170G>ASubstitution - coding silent
SLX4IPENSG00000149346ENST00000334534p.P214Pc.642C>TSubstitution - coding silent
UNC80ENSG00000144406ENST00000439458p.?c.7608-5T>AUnknown
BARD1ENSG00000138376ENST00000260947p.P353Hc.1058C>ASubstitution - Missense
MCMDC2ENSG00000178460ENST00000396592p.?c.1074-7T>CUnknown
NCOA6ENSG00000198646ENST00000374796p.A1717Ac.5151C>ASubstitution - coding silent
GNASENSG00000087460ENST00000371100p.G341Rc.1021G>ASubstitution - Missense
OSGIN2ENSG00000164823ENST00000297438p.A478Vc.1433C>TSubstitution - Missense
ZNF443ENSG00000180855ENST00000301547p.S462Sc.1386T>CSubstitution - coding silent
BRIP1ENSG00000136492ENST00000259008p.S128Pc.382T>CSubstitution - Missense
PRKCSHENSG00000130175ENST00000252455p.D32Dc.96T>CSubstitution - coding silent
GABRA4ENSG00000109158ENST00000264318p.G112Dc.335G>ASubstitution - Missense
XM_374491.1p.R877Rc.2631C>ASubstitution - coding silent
RHPN1ENSG00000158106ENST00000289013p.R428Rc.1284C>TSubstitution - coding silent
SLC7A2ENSG00000003989ENST00000470360p.?c.953-4T>AUnknown
MGAMENSG00000257335ENST00000475668p.A402Tc.1204G>ASubstitution - Missense
SMTNENSG00000183963ENST00000358743p.Q402Rc.1205A>GSubstitution - Missense
PRR14LENSG00000183530ENST00000397493p.A1870Tc.5608G>ASubstitution - Missense
PIEZO1ENSG00000103335ENST00000301015p.K2520Ec.7558A>GSubstitution - Missense
ITFG3ENSG00000167930ENST00000301678p.R329Hc.986G>ASubstitution - Missense
NLRC4ENSG00000091106ENST00000404025p.H91fs*15c.270delTDeletion - Frameshift
LAMA5ENSG00000130702ENST00000252999p.Q2355*c.7063C>TSubstitution - Nonsense
C2orf49ENSG00000135974ENST00000258457p.N174Tc.521A>CSubstitution - Missense
ENST00000508324_v68p.C174Yc.521G>ASubstitution - Missense
BOD1L1ENSG00000038219ENST00000040738p.G2192Gc.6576G>ASubstitution - coding silent
DHX36ENSG00000174953ENST00000496811p.R429Gc.1285A>GSubstitution - Missense
FLT4ENSG00000037280ENST00000393347p.?c.3807+2T>CUnknown
IQCA1ENSG00000132321ENST00000409907p.V770Vc.2310T>CSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.I16278Fc.48832A>TSubstitution - Missense
ANKRD11ENSG00000167522ENST00000301030p.S983Gc.2947A>GSubstitution - Missense
ZNF267ENSG00000185947ENST00000300870p.K602Nc.1806A>CSubstitution - Missense
ZNF331ENSG00000130844ENST00000253144p.T414Ac.1240A>GSubstitution - Missense
TCN2ENSG00000185339ENST00000215838p.A261fs*28c.780delGDeletion - Frameshift
HERC3ENSG00000138641ENST00000402738p.V916Vc.2748G>ASubstitution - coding silent
PEG3ENSG00000198300ENST00000423103p.S846Sc.2538T>CSubstitution - coding silent
ZNF628ENSG00000197483ENST00000391718p.R160Wc.478C>TSubstitution - Missense
SH3BP5ENSG00000131370ENST00000383791p.P292Pc.876T>GSubstitution - coding silent
ENST00000380830p.R535Kc.1604G>ASubstitution - Missense
KIAA1244ENSG00000112379ENST00000251691p.A922Vc.2765C>TSubstitution - Missense
ARID1BENSG00000049618ENST00000346085p.Y1425Yc.4275T>CSubstitution - coding silent
EIF2S3ENSG00000130741ENST00000253039p.Y330Hc.988T>CSubstitution - Missense
EPB41L5ENSG00000115109ENST00000263713p.?c.1962+3A>CUnknown
ZNF90ENSG00000213988ENST00000418063p.L412Lc.1236T>CSubstitution - coding silent
NPHP3ENSG00000113971ENST00000337331p.L1030Hc.3089T>ASubstitution - Missense
KLHL4ENSG00000102271ENST00000373114p.W21Rc.61T>CSubstitution - Missense
CMYA5ENSG00000164309ENST00000446378p.P1166Pc.3498T>GSubstitution - coding silent
USP9YENSG00000114374ENST00000338981p.?c.6976-8A>GUnknown
NEDD9ENSG00000111859ENST00000379446p.V431Fc.1291G>TSubstitution - Missense
SSTR3ENSG00000183473ENST00000328544p.L28Lc.84G>TSubstitution - coding silent
IL4ENSG00000113520ENST00000231449p.?c.360+7T>GUnknown
SORBS2ENSG00000154556ENST00000418609p.R339Ic.1016G>TSubstitution - Missense
ZNF571ENSG00000180479ENST00000328550p.V244Dc.731T>ASubstitution - Missense
PCDHGB6ENSG00000253305ENST00000520790p.A70Vc.209C>TSubstitution - Missense
PCDHA1ENSG00000204970ENST00000504120p.K933Rc.2798A>GSubstitution - Missense
CYFIP2ENSG00000055163ENST00000318218p.R142Wc.424C>TSubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.A1227Vc.3680C>TSubstitution - Missense
FRYLENSG00000075539ENST00000503238p.E94Vc.281A>TSubstitution - Missense
KCNIP1ENSG00000182132ENST00000411494p.?c.62-9C>GUnknown
ISL1ENSG00000016082ENST00000230658p.G275Sc.823G>ASubstitution - Missense
EHMT2ENSG00000204371ENST00000375537p.N816Sc.2447A>GSubstitution - Missense
PBX2ENSG00000204304ENST00000375050p.R169Hc.506G>ASubstitution - Missense
RUNX2ENSG00000124813ENST00000352853p.?c.1063+10A>TUnknown
MYCENSG00000136997ENST00000377970p.L164Vc.490C>GSubstitution - Missense
PALLDENSG00000129116ENST00000261509p.Q586*c.1756C>TSubstitution - Nonsense
KDM6AENSG00000147050ENST00000382899p.V1275Vc.3825A>GSubstitution - coding silent
HMHA1ENSG00000180448ENST00000536472p.T346Tc.1038G>ASubstitution - coding silent
BIVMENSG00000134897ENST00000448849p.?c.434+3A>GUnknown
POLA2ENSG00000014138ENST00000541089p.P42Pc.126T>CSubstitution - coding silent
FAT3ENSG00000165323ENST00000541502p.I187Vc.559A>GSubstitution - Missense
PROM1ENSG00000007062ENST00000543373p.G450Gc.1350C>TSubstitution - coding silent
OR5F1ENSG00000149133ENST00000278409p.N5fs*7c.8_9insAInsertion - Frameshift
ENST00000378024_v70p.K933fs*7c.2796delCDeletion - Frameshift
TTLL9ENSG00000131044ENST00000375922p.N109fs*8c.322delADeletion - Frameshift
RGS12ENSG00000159788ENST00000338806p.A478Gc.1433C>GSubstitution - Missense
SNX27ENSG00000143376ENST00000368838p.N175fs*24c.520_521delGADeletion - Frameshift
UPF1ENSG00000005007ENST00000599848p.?c.3270+8C>TUnknown
MTMR3ENSG00000100330ENST00000333027p.V231Ac.692T>CSubstitution - Missense
KIF6ENSG00000164627ENST00000538893p.?c.1587-10T>CUnknown
FILIP1ENSG00000118407ENST00000393004p.R254Tc.761G>CSubstitution - Missense
PCDHB12ENSG00000120328ENST00000239450p.A475Tc.1423G>ASubstitution - Missense
RDH12ENSG00000139988ENST00000267502p.A126Vc.377C>TSubstitution - Missense
ENST00000545858p.G152Sc.454G>ASubstitution - Missense
AKAP13ENSG00000170776ENST00000361243p.A801Tc.2401G>ASubstitution - Missense
ATMENSG00000149311ENST00000278616p.K2811fs*46c.8426delADeletion - Frameshift
ZFP36L2ENSG00000152518ENST00000282388p.G107fs*80c.320delGDeletion - Frameshift
DDX60LENSG00000181381ENST00000260184p.N1168fs*25c.3503delADeletion - Frameshift
ROCK1ENSG00000067900ENST00000399799p.K1307fs*3c.3921delADeletion - Frameshift
PHKBENSG00000102893ENST00000566044p.G637fs*2c.1903delADeletion - Frameshift
MIA2ENSG00000150526ENST00000280082p.D364fs*8c.1082delADeletion - Frameshift
SECISBP2LENSG00000138593ENST00000261847p.R544Cc.1630C>TSubstitution - Missense
ZNF485ENSG00000198298ENST00000361807p.P157Qc.470C>ASubstitution - Missense
TBC1D2BENSG00000167202ENST00000300584p.E579Dc.1737G>CSubstitution - Missense
MYO1CENSG00000197879ENST00000359786p.?c.2610+4C>TUnknown
KIF6ENSG00000164627ENST00000541946p.?c.108-10T>CUnknown
CYFIP2ENSG00000055163ENST00000435847p.A79Tc.235G>ASubstitution - Missense
SLIT3ENSG00000184347ENST00000404867p.D1074Ec.3222C>ASubstitution - Missense
DENND2AENSG00000146966ENST00000492720p.?c.2038-9C>AUnknown
RAB13ENSG00000143545ENST00000368575p.R167Wc.499C>TSubstitution - Missense
DDX17ENSG00000100201ENST00000403230p.G163fs*20c.488delGDeletion - Frameshift
ATMENSG00000149311ENST00000278616p.K2811fs*46c.8426delADeletion - Frameshift
MYCENSG00000136997ENST00000377970p.E54Dc.162G>CSubstitution - Missense
ESR2ENSG00000140009ENST00000554572p.R93Cc.277C>TSubstitution - Missense
KIAA0226LENSG00000102445ENST00000322896p.E37Ec.111G>ASubstitution - coding silent
CDC42BPAENSG00000143776ENST00000366766p.P1148Lc.3443C>TSubstitution - Missense
NRP1ENSG00000099250ENST00000374823p.S170Nc.509G>ASubstitution - Missense
TDRD3ENSG00000083544ENST00000377894p.R406fs*28c.1210delADeletion - Frameshift
CDHR1ENSG00000148600ENST00000332904p.Q739Pc.2216A>CSubstitution - Missense
ATP2B1ENSG00000070961ENST00000359142p.F85Lc.253T>CSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.S543Sc.1629G>ASubstitution - coding silent
ZNF268ENSG00000090612ENST00000228289p.R56Hc.167G>ASubstitution - Missense
R3HDM2ENSG00000179912ENST00000347140p.R295Rc.885G>ASubstitution - coding silent
BIVMENSG00000134897ENST00000257336p.?c.1121+3A>GUnknown
CHD8ENSG00000100888ENST00000399982p.P2201Sc.6601C>TSubstitution - Missense
DUSP5ENSG00000138166ENST00000369583p.L223Ic.667C>ASubstitution - Missense
IDI1ENSG00000067064ENST00000381344p.T251Tc.753G>ASubstitution - coding silent
NR1H4ENSG00000012504ENST00000548884p.S82Pc.244T>CSubstitution - Missense
UNC5BENSG00000107731ENST00000335350p.D409Nc.1225G>ASubstitution - Missense
ENSG00000181908ENST00000316124p.M1Tc.2T>CSubstitution - Missense
TJP1ENSG00000104067ENST00000346128p.I346Ic.1038T>ASubstitution - coding silent
PDE3BENSG00000152270ENST00000282096p.K950Tc.2849A>CSubstitution - Missense
SPENENSG00000065526ENST00000375759p.Q3304Hc.9912A>TSubstitution - Missense
FBXO44ENSG00000132879ENST00000376770p.S202Sc.606C>TSubstitution - coding silent
STRCENSG00000242866ENST00000450892p.V1393Ac.4178T>CSubstitution - Missense
SLC6A5ENSG00000165970ENST00000525748p.A682Tc.2044G>ASubstitution - Missense
NM_005933.1p.K284Tc.851A>CSubstitution - Missense
TOR1AIP1ENSG00000143337ENST00000435319p.G487Cc.1459G>TSubstitution - Missense
UBR4ENSG00000127481ENST00000375254p.T2019Tc.6057C>TSubstitution - coding silent
RGS6ENSG00000182732ENST00000555571p.L377Lc.1131A>GSubstitution - coding silent
TDRD5ENSG00000162782ENST00000367614p.S83Pc.247T>CSubstitution - Missense
TNRENSG00000116147ENST00000367674p.E145Ec.435G>ASubstitution - coding silent
LRRK1ENSG00000154237ENST00000284395p.G1094Cc.3280G>TSubstitution - Missense
TARSL2ENSG00000185418ENST00000335968p.K136Ec.406A>GSubstitution - Missense
DNM1LENSG00000087470ENST00000553257p.?c.289+6C>TUnknown
PKLRENSG00000143627ENST00000342741p.H121Rc.362A>GSubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.S1322Ac.3964T>GSubstitution - Missense
NM_006255p.I566Tc.1697T>CSubstitution - Missense
GBP2ENSG00000162645ENST00000370466p.?c.625+1G>CUnknown
C5orf42ENSG00000197603ENST00000274258p.S462fs*20c.1384delTDeletion - Frameshift
SLC24A3ENSG00000185052ENST00000328041p.?c.423+3A>GUnknown
MCOLN2ENSG00000153898ENST00000370608p.E328Kc.982G>ASubstitution - Missense
KLF7ENSG00000118263ENST00000309446p.R48fs*30c.142delCDeletion - Frameshift
RIN2ENSG00000132669ENST00000255006p.L439Lc.1317G>ASubstitution - coding silent
GPC4ENSG00000076716ENST00000370828p.G282Gc.846G>TSubstitution - coding silent
ARHGAP44ENSG00000006740ENST00000379672p.S765Pc.2293T>CSubstitution - Missense
SIGLEC11ENSG00000161640ENST00000447370p.G376Cc.1126G>TSubstitution - Missense
RAB40BENSG00000141542ENST00000571995p.N269fs*>10c.801delCDeletion - Frameshift
XM_290867.2p.E17Kc.49G>ASubstitution - Missense
ASPSCR1ENSG00000169696ENST00000306729p.Q232Rc.695A>GSubstitution - Missense
LPIN2ENSG00000101577ENST00000261596p.G267Gc.801C>TSubstitution - coding silent
KSR1ENSG00000141068ENST00000319524p.R263Pc.788G>CSubstitution - Missense
SRCIN1ENSG00000017373ENST00000264659p.R719Rc.2157G>ASubstitution - coding silent
LMCD1ENSG00000071282ENST00000157600p.?c.940-9C>TUnknown
ETS2ENSG00000157557ENST00000360214p.A283Vc.848C>TSubstitution - Missense
ENST00000505256p.P1728Lc.5183C>TSubstitution - Missense
ATP8A1ENSG00000124406ENST00000264449p.T442fs*3c.1318_1319insAInsertion - Frameshift
CTC1ENSG00000178971ENST00000315684p.R162fs*30c.484delCDeletion - Frameshift
ENST00000314140_v61p.V22Ac.65T>CSubstitution - Missense
VPS13CENSG00000129003ENST00000261517p.L416Lc.1246T>CSubstitution - coding silent
ZC3H14ENSG00000100722ENST00000251038p.N720Nc.2160T>CSubstitution - coding silent
ZC3H14ENSG00000100722ENST00000318308p.N290Nc.870T>CSubstitution - coding silent
BAHD1ENSG00000140320ENST00000416165p.P284Sc.850C>TSubstitution - Missense
SPEF2ENSG00000152582ENST00000356031p.I1180fs*3c.3535delADeletion - Frameshift
RRBP1ENSG00000125844ENST00000360807p.G232Gc.696C>TSubstitution - coding silent
SH3BGRL3ENSG00000142669ENST00000319041p.G80fs*26c.233delGDeletion - Frameshift
CDC27ENSG00000004897ENST00000531206p.S51Tc.151T>ASubstitution - Missense
ENST00000446248_v68p.R1067Qc.3200G>ASubstitution - Missense
TLR7ENSG00000196664ENST00000380659p.N606Nc.1818T>CSubstitution - coding silent
ARFGEF1ENSG00000066777ENST00000262215p.L1562Lc.4686G>ASubstitution - coding silent
PNKPENSG00000039650ENST00000322344p.?c.578+3G>AUnknown
FRMPD3ENSG00000147234ENST00000276185p.P887Ac.2659C>GSubstitution - Missense
LRRN4ENSG00000125872ENST00000378858p.A653Vc.1958C>TSubstitution - Missense
ENST00000318252p.Y3209Sc.9626A>CSubstitution - Missense
PIWIL2ENSG00000197181ENST00000356766p.S186Pc.556T>CSubstitution - Missense
TNPO3ENSG00000064419ENST00000265388p.Y848fs*25c.2541delCDeletion - Frameshift
JAK2ENSG00000096968ENST00000381652p.S137Sc.411T>ASubstitution - coding silent
TMEM50BENSG00000142188ENST00000420455p.V63Vc.189A>GSubstitution - coding silent
ATP8A1ENSG00000124406ENST00000381668p.T457fs*3c.1363_1364insAInsertion - Frameshift
MSANTD1ENSG00000188981ENST00000438480p.P144Pc.432G>ASubstitution - coding silent
ENST00000378381p.K476Tc.1427A>CSubstitution - Missense
ENST00000273600p.R3610*c.10828C>TSubstitution - Nonsense
LOXHD1ENSG00000167210ENST00000398722p.E676Gc.2027A>GSubstitution - Missense
PFASENSG00000178921ENST00000314666p.?c.1336+8C>TUnknown
NM_003319p.R18276Qc.54827G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.I9973Fc.29917A>TSubstitution - Missense
LEF1ENSG00000138795ENST00000510624p.Y267Yc.801T>CSubstitution - coding silent
TACC1ENSG00000147526ENST00000317827p.T543Tc.1629C>TSubstitution - coding silent
RPGRENSG00000156313ENST00000339363p.S47Sc.141T>GSubstitution - coding silent
NLRP11ENSG00000179873ENST00000443188p.P57Pc.171A>GSubstitution - coding silent
TRIM71ENSG00000206557ENST00000383763p.T719Mc.2156C>TSubstitution - Missense
ODC1ENSG00000115758ENST00000234111p.D307Dc.921T>CSubstitution - coding silent
ESRP2ENSG00000103067ENST00000473183p.G253Gc.759G>TSubstitution - coding silent
HJURPENSG00000123485ENST00000411486p.P602Sc.1804C>TSubstitution - Missense
PLIN5ENSG00000214456ENST00000381848p.A379Sc.1135G>TSubstitution - Missense
GTF2IRD1ENSG00000006704ENST00000265755p.P91Pc.273C>ASubstitution - coding silent
MUC13ENSG00000173702ENST00000311075p.S470Sc.1410G>ASubstitution - coding silent
GLTSCR2ENSG00000105373ENST00000246802p.R471Wc.1411C>TSubstitution - Missense
RAB3AENSG00000105649ENST00000222256p.P196Hc.587C>ASubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.L1889Pc.5666T>CSubstitution - Missense
COL21A1ENSG00000124749ENST00000244728p.R220Rc.658C>ASubstitution - coding silent
NCF4ENSG00000100365ENST00000397147p.G74Rc.220G>ASubstitution - Missense
DIAPH2ENSG00000147202ENST00000324765p.Q376Rc.1127A>GSubstitution - Missense
LRBAENSG00000198589ENST00000357115p.L677Lc.2031A>GSubstitution - coding silent
GUCY1B3ENSG00000061918ENST00000264424p.S574Pc.1720T>CSubstitution - Missense
ENST00000324309p.S205Yc.614C>ASubstitution - Missense
LCA5ENSG00000135338ENST00000392959p.V189Ac.566T>CSubstitution - Missense
PCDHA3ENSG00000255408ENST00000522353p.Q753Qc.2259G>ASubstitution - coding silent
ENST00000378129p.Q753Qc.2259G>ASubstitution - coding silent
PCDHA1ENSG00000204970ENST00000504120p.V510Ac.1529T>CSubstitution - Missense
CNOT8ENSG00000155508ENST00000285896p.S155Pc.463T>CSubstitution - Missense
JAKMIP1ENSG00000152969ENST00000282924p.T309Tc.927G>ASubstitution - coding silent
NPM1ENSG00000181163ENST00000517671p.M65Lc.193A>CSubstitution - Missense
ENST00000373990p.R65Wc.193C>TSubstitution - Missense
ABCC10ENSG00000124574ENST00000244533p.R1411Gc.4231A>GSubstitution - Missense
CRATENSG00000095321ENST00000318080p.R464Hc.1391G>ASubstitution - Missense
ENST00000368854p.T32Tc.96G>ASubstitution - coding silent
OR1S2ENSG00000197887ENST00000302592p.L126*c.377T>ASubstitution - Nonsense
ZDHHC5ENSG00000156599ENST00000287169p.?c.557+1G>AUnknown
CEP128ENSG00000100629ENST00000327841p.R34Hc.101G>ASubstitution - Missense
FAM193AENSG00000125386ENST00000324666p.Y38Yc.114C>TSubstitution - coding silent
SCLYENSG00000132330ENST00000409736p.Y269Cc.806A>GSubstitution - Missense
POLHENSG00000170734ENST00000372236p.?c.661-7C>TUnknown
DGKIENSG00000157680ENST00000424189p.P508Pc.1524C>TSubstitution - coding silent
COBLENSG00000106078ENST00000395542p.A1238Ac.3714T>ASubstitution - coding silent
BRI3ENSG00000164713ENST00000539286p.V56Ic.166G>ASubstitution - Missense
DMTF1ENSG00000135164ENST00000394702p.?c.109+9A>GUnknown
DMTF1ENSG00000135164ENST00000394702p.?c.677+9A>GUnknown
PCLOENSG00000186472ENST00000423517p.P735Hc.2204C>ASubstitution - Missense
TACC1ENSG00000147526ENST00000379931p.T555Tc.1665C>TSubstitution - coding silent
ZFHX4ENSG00000091656ENST00000050961p.T467Tc.1401T>CSubstitution - coding silent
KIAA0368ENSG00000136813ENST00000338205p.L1759Lc.5277T>GSubstitution - coding silent
KCNT1ENSG00000107147ENST00000263604p.R909Hc.2726G>ASubstitution - Missense
GRIN1ENSG00000176884ENST00000315048p.H53Hc.159C>TSubstitution - coding silent
CAMSAP1ENSG00000130559ENST00000409386p.R725Mc.2174G>TSubstitution - Missense
CNTLNENSG00000044459ENST00000262360p.K951Nc.2853G>TSubstitution - Missense
C9orf131ENSG00000174038ENST00000421362p.T954Tc.2862T>CSubstitution - coding silent
FAM120AENSG00000048828ENST00000333936p.S773Pc.2317T>CSubstitution - Missense
PTPRDENSG00000153707ENST00000397617p.L1202Lc.3604C>TSubstitution - coding silent
COL4A5ENSG00000188153ENST00000328300p.P118Ac.352C>GSubstitution - Missense
SLC35A2ENSG00000102100ENST00000376515p.?c.202+2T>CUnknown
WDR45ENSG00000196998ENST00000322995p.F323Fc.969C>TSubstitution - coding silent
DIAPH2ENSG00000147202ENST00000373049p.L258Sc.773T>CSubstitution - Missense
UPF3BENSG00000125351ENST00000276201p.R373Cc.1117C>TSubstitution - Missense
FAM151AENSG00000162391ENST00000302250p.T118fs*43c.351delCDeletion - Frameshift
HTR1BENSG00000135312ENST00000369947p.P183Lc.548C>TSubstitution - Missense
TTNENSG00000155657ENST00000360870p.R3469Cc.10405C>TSubstitution - Missense
RAD51AP2ENSG00000214842ENST00000399080p.T316fs*2c.946delADeletion - Frameshift
RANBP2ENSG00000153201ENST00000283195p.H466Qc.1398T>GSubstitution - Missense
CFHR5ENSG00000134389ENST00000256785p.T491Tc.1473A>GSubstitution - coding silent
NCOR2ENSG00000196498ENST00000405201p.R1060fs*3c.3178delCDeletion - Frameshift
RNF103ENSG00000239305ENST00000237455p.K670fs*>16c.2009delADeletion - Frameshift
FBXO25ENSG00000147364ENST00000276326p.R67fs*44c.193delADeletion - Frameshift
RAD51AP2ENSG00000214842ENST00000399080p.K828fs*4c.2484delADeletion - Frameshift
PRDM4ENSG00000110851ENST00000228437p.S298Ac.892T>GSubstitution - Missense
PCDH17ENSG00000118946ENST00000377918p.D158Nc.472G>ASubstitution - Missense
C1orf86ENSG00000162585ENST00000378545p.A232Tc.694G>ASubstitution - Missense
HARBI1ENSG00000180423ENST00000326737p.K218Kc.654A>GSubstitution - coding silent
PLCE1ENSG00000138193ENST00000371375p.M784Vc.2350A>GSubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.M1092Vc.3274A>GSubstitution - Missense
LUZP1ENSG00000169641ENST00000374623p.S794Sc.2382T>CSubstitution - coding silent
DPY19L2ENSG00000177990ENST00000324472p.D482Ec.1446C>GSubstitution - Missense
NM_014903.3p.H2351Yc.7051C>TSubstitution - Missense
MRPS11ENSG00000181991ENST00000325844p.G168Gc.504C>TSubstitution - coding silent
NM_014824.1p.D615Nc.1843G>ASubstitution - Missense
KRT80ENSG00000167767ENST00000394815p.Q277Rc.830A>GSubstitution - Missense
KCNA6ENSG00000151079ENST00000280684p.A95Tc.283G>ASubstitution - Missense
PNRC2ENSG00000189266ENST00000334351p.R6Rc.18G>ASubstitution - coding silent
RAD52ENSG00000002016ENST00000358495p.H298Pc.893A>CSubstitution - Missense
GOT1ENSG00000120053ENST00000370508p.E98Gc.293A>GSubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.V514Ic.1540G>ASubstitution - Missense
SLC41A2ENSG00000136052ENST00000258538p.M407Tc.1220T>CSubstitution - Missense
NRXN2ENSG00000110076ENST00000377551p.R383Hc.1148G>ASubstitution - Missense
SRGNENSG00000122862ENST00000242465p.F98Fc.294C>TSubstitution - coding silent
ATP10AENSG00000206190ENST00000356865p.D190Dc.570C>TSubstitution - coding silent
ENST00000310358p.C156Cc.468C>TSubstitution - coding silent
ORAI1ENSG00000182500ENST00000330079p.R33_S34insRSRRRc.79_80ins15Insertion - In frame
PRB2ENSG00000121335ENST00000389362p.R171*c.511C>TSubstitution - Nonsense
GCN1L1ENSG00000089154ENST00000300648p.N1242Kc.3726C>GSubstitution - Missense
ENST00000428306_v65p.H479Hc.1437C>TSubstitution - coding silent
C14orf166BENSG00000100565ENST00000393774p.P388Lc.1163C>TSubstitution - Missense
MR1ENSG00000153029ENST00000367580p.R68Wc.202C>TSubstitution - Missense
PM20D1ENSG00000162877ENST00000367136p.A131Vc.392C>TSubstitution - Missense
KDM5BENSG00000117139ENST00000367265p.S218Fc.653C>TSubstitution - Missense
DUOX1ENSG00000137857ENST00000389037p.T17Ic.50C>TSubstitution - Missense
LRRK1ENSG00000154237ENST00000388948p.G1097Cc.3289G>TSubstitution - Missense
SCN1AENSG00000144285ENST00000423058p.K756Kc.2268A>GSubstitution - coding silent
WIPF1ENSG00000115935ENST00000272746p.A394Vc.1181C>TSubstitution - Missense
WIPF1ENSG00000115935ENST00000409891p.A394Vc.1181C>TSubstitution - Missense
HSPE1ENSG00000115541ENST00000233893p.V101Ic.301G>ASubstitution - Missense
MYT1LENSG00000186487ENST00000428368p.S595Tc.1783T>ASubstitution - Missense
OBSL1ENSG00000124006ENST00000373873p.V799Fc.2395G>TSubstitution - Missense
NHEJ1ENSG00000187736ENST00000409720p.D250Nc.748G>ASubstitution - Missense
ADAM23ENSG00000114948ENST00000374415p.E183Kc.547G>ASubstitution - Missense
IFT172ENSG00000138002ENST00000416524p.W371*c.1112G>ASubstitution - Nonsense
KIF1AENSG00000130294ENST00000498729p.G493Gc.1479C>TSubstitution - coding silent
ENST00000398800_v70p.R398Hc.1193G>ASubstitution - Missense
SPASTENSG00000021574ENST00000315285p.L86Rc.257T>GSubstitution - Missense
TMEM18ENSG00000151353ENST00000355654p.E12Ac.35A>CSubstitution - Missense
NEK11ENSG00000114670ENST00000507910p.L282Fc.846A>TSubstitution - Missense
MAP3K13ENSG00000073803ENST00000535426p.M123Ic.369G>CSubstitution - Missense
MED12LENSG00000144893ENST00000309237p.R738Hc.2213G>ASubstitution - Missense
RBMS3ENSG00000144642ENST00000456853p.R289Rc.867C>TSubstitution - coding silent
UBXN7ENSG00000163960ENST00000296328p.P226Pc.678C>ASubstitution - coding silent
ANK2ENSG00000145362ENST00000506722p.P843Pc.2529T>CSubstitution - coding silent
FRG1ENSG00000109536ENST00000226798p.?c.630-5T>AUnknown
PROM1ENSG00000007062ENST00000543373p.I61Vc.181A>GSubstitution - Missense
ARNTLENSG00000133794ENST00000389708p.T493fs*>34c.1471delCDeletion - Frameshift
RGS12ENSG00000159788ENST00000538395p.A468Gc.1403C>GSubstitution - Missense
KSR2ENSG00000171435ENST00000339824p.T290fs*9c.867delGDeletion - Frameshift
VEGFBENSG00000173511ENST00000426086p.K129fs*5c.379delADeletion - Frameshift
OR5D16ENSG00000205029ENST00000378396p.M61fs*22c.176delCDeletion - Frameshift
CCDC175ENSG00000151838ENST00000537690p.N632fs*8c.1895delADeletion - Frameshift
ZNF124ENSG00000196418ENST00000543802p.T339fs*>13c.1015delADeletion - Frameshift
ENST00000367531p.K618fs*25c.1847delADeletion - Frameshift
ENST00000560728p.Q294fs*55c.873_874insAInsertion - Frameshift
DZANK1ENSG00000089091ENST00000357236p.K335fs*5c.1004delADeletion - Frameshift
TTLL9ENSG00000131044ENST00000310998p.N109fs*8c.322delADeletion - Frameshift
HDLBPENSG00000115677ENST00000427183p.K532fs*89c.1596delADeletion - Frameshift
UNC50ENSG00000115446ENST00000409975p.F195fs*7c.578delTDeletion - Frameshift
CTAGE5ENSG00000150527ENST00000341502p.G653Ec.1958G>ASubstitution - Missense
CACNA1EENSG00000198216ENST00000357570p.L97Pc.290T>CSubstitution - Missense
LPHN3ENSG00000150471ENST00000507625p.V845Ac.2534T>CSubstitution - Missense
LPHN3ENSG00000150471ENST00000507625p.A653Dc.1958C>ASubstitution - Missense
MYNNENSG00000085274ENST00000392733p.S131Gc.391A>GSubstitution - Missense
MYNNENSG00000085274ENST00000392733p.R148*c.442C>TSubstitution - Nonsense
ENST00000402738_v70p.V916Vc.2748G>ASubstitution - coding silent
SORCS2ENSG00000184985ENST00000507866p.H153Yc.457C>TSubstitution - Missense
ENST00000448712p.D815Gc.2444A>GSubstitution - Missense
ACSL6ENSG00000164398ENST00000379249p.C167*c.501C>ASubstitution - Nonsense
ABLIM3ENSG00000173210ENST00000504238p.R81Hc.242G>ASubstitution - Missense
PPP2R2BENSG00000156475ENST00000504198p.R146Wc.436C>TSubstitution - Missense
JAKMIP2ENSG00000176049ENST00000507386p.E545Dc.1635A>TSubstitution - Missense
UNC5AENSG00000113763ENST00000261961p.R367Hc.1100G>ASubstitution - Missense
SLIT3ENSG00000184347ENST00000404867p.P205Pc.615G>ASubstitution - coding silent
CLINT1ENSG00000113282ENST00000411809p.S429Lc.1286C>TSubstitution - Missense
IPO11ENSG00000086200ENST00000409296p.C746Cc.2238C>TSubstitution - coding silent
FAM26DENSG00000164451ENST00000416171p.E115Kc.343G>ASubstitution - Missense
LATS1ENSG00000131023ENST00000392273p.P373Qc.1118C>ASubstitution - Missense
OPRM1ENSG00000112038ENST00000419506p.W228*c.684G>ASubstitution - Nonsense
EHMT2ENSG00000204371ENST00000395728p.N873Sc.2618A>GSubstitution - Missense
TRIM39ENSG00000204599ENST00000540416p.Y364*c.1092C>GSubstitution - Nonsense
TRERF1ENSG00000124496ENST00000372917p.R786Wc.2356C>TSubstitution - Missense
DNAH8ENSG00000124721ENST00000449981p.V939Vc.2817T>CSubstitution - coding silent
DNAH8ENSG00000124721ENST00000449981p.Y2612Hc.7834T>CSubstitution - Missense
SCUBE3ENSG00000146197ENST00000394681p.E957Kc.2869G>ASubstitution - Missense
MCM3ENSG00000112118ENST00000596288p.P250Pc.750G>ASubstitution - coding silent
SUPT3HENSG00000196284ENST00000371458p.P97Pc.291G>TSubstitution - coding silent
ABCC10ENSG00000124574ENST00000372530p.R1439Gc.4315A>GSubstitution - Missense
POLHENSG00000170734ENST00000372236p.?c.661-8G>CUnknown
KLRC3ENSG00000205810ENST00000381904p.N158Nc.474T>CSubstitution - coding silent
FAT3ENSG00000165323ENST00000541502p.Y868Yc.2604C>TSubstitution - coding silent
GDPD5ENSG00000158555ENST00000443276p.N119Sc.356A>GSubstitution - Missense
KSR2ENSG00000171435ENST00000339824p.L92Lc.276A>GSubstitution - coding silent
EP400ENSG00000183495ENST00000333577p.R1965Wc.5893C>TSubstitution - Missense
RIMBP2ENSG00000060709ENST00000536002p.R249Cc.745C>TSubstitution - Missense
KRT80ENSG00000167767ENST00000313234p.Q277Rc.830A>GSubstitution - Missense
NOP2ENSG00000111641ENST00000322166p.A645Vc.1934C>TSubstitution - Missense
VWFENSG00000110799ENST00000572068p.G181Sc.541G>ASubstitution - Missense
ELF1ENSG00000120690ENST00000239882p.?c.253+5G>AUnknown
CHD1LENSG00000131778ENST00000369258p.A554Ac.1662C>TSubstitution - coding silent
ARHGEF11ENSG00000132694ENST00000315174p.D327Nc.979G>ASubstitution - Missense
ATP13A2ENSG00000159363ENST00000341676p.A756Vc.2267C>TSubstitution - Missense
CLCNKBENSG00000184908ENST00000375667p.D352Gc.1055A>GSubstitution - Missense
CLCNKBENSG00000184908ENST00000431772p.D10Gc.29A>GSubstitution - Missense
IGSF9ENSG00000085552ENST00000368094p.D283Dc.849C>TSubstitution - coding silent
TDRD5ENSG00000162782ENST00000444136p.S83Pc.247T>CSubstitution - Missense
PRKCZENSG00000067606ENST00000378567p.?c.688-5C>AUnknown
FAM72AENSG00000196550ENST00000367129p.I131Tc.392T>CSubstitution - Missense
KCNK2ENSG00000082482ENST00000391895p.D19Dc.57T>CSubstitution - coding silent
CDC42BPAENSG00000143776ENST00000441725p.P338Sc.1012C>TSubstitution - Missense
ADCENSG00000142920ENST00000358680p.L183Rc.548T>GSubstitution - Missense
LCKENSG00000182866ENST00000333070p.T367Tc.1101C>TSubstitution - coding silent
KIF2CENSG00000142945ENST00000455186p.?c.412+1G>AUnknown
TESK2ENSG00000070759ENST00000372086p.D271Dc.813T>CSubstitution - coding silent
DOCK7ENSG00000116641ENST00000251157p.E1447Ec.4341G>ASubstitution - coding silent
OMA1ENSG00000162600ENST00000358603p.G399Gc.1197A>GSubstitution - coding silent
SGIP1ENSG00000118473ENST00000237247p.T425Ic.1274C>TSubstitution - Missense
LEPRENSG00000116678ENST00000371059p.S54Sc.162A>GSubstitution - coding silent
ENST00000535852p.N545Hc.1633A>CSubstitution - Missense
C14orf80ENSG00000185347ENST00000392523p.T454Tc.1362G>ASubstitution - coding silent
ENST00000392554_v70p.A213Tc.637G>ASubstitution - Missense
SYNE2ENSG00000054654ENST00000357395p.I280Lc.838A>CSubstitution - Missense
CTAGE5ENSG00000150527ENST00000341749p.G641Ec.1922G>ASubstitution - Missense
MYO5AENSG00000197535ENST00000358212p.W1754Cc.5262G>TSubstitution - Missense
PKMENSG00000067225ENST00000449901p.G186Gc.558C>GSubstitution - coding silent
DPP8ENSG00000074603ENST00000341861p.S516Sc.1548T>CSubstitution - coding silent
NR2F2ENSG00000185551ENST00000421109p.H173Rc.518A>GSubstitution - Missense
NBR1ENSG00000188554ENST00000389312p.R223Rc.669G>ASubstitution - coding silent
BECN1ENSG00000126581ENST00000361523p.G386Gc.1158C>TSubstitution - coding silent
LUC7L3ENSG00000108848ENST00000544170p.R170Cc.508C>TSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.R283Hc.848G>ASubstitution - Missense
GLOD4ENSG00000167699ENST00000301328p.G203Gc.609C>TSubstitution - coding silent
ENST00000319144_v70p.Y266Sc.797A>CSubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.T3303Tc.9909G>ASubstitution - coding silent
SMAD4ENSG00000141646ENST00000452201p.L54Fc.162G>TSubstitution - Missense
ENST00000397439_v70p.C237Rc.709T>CSubstitution - Missense
RGL3ENSG00000205517ENST00000393423p.P555Hc.1664C>ASubstitution - Missense
RGL3ENSG00000205517ENST00000393423p.E253Kc.757G>ASubstitution - Missense
SUGP2ENSG00000064607ENST00000452918p.Y63Cc.188A>GSubstitution - Missense
SPTBN4ENSG00000160460ENST00000392025p.A454Ac.1362G>ASubstitution - coding silent
MAP2K7ENSG00000076984ENST00000545011p.D303Dc.909C>TSubstitution - coding silent
MED16ENSG00000175221ENST00000312090p.V429Dc.1286T>ASubstitution - Missense
ZSCAN1ENSG00000152467ENST00000391700p.Q22Kc.64C>ASubstitution - Missense
ZNF628ENSG00000197483ENST00000598519p.K155Tc.464A>CSubstitution - Missense
ZNF628ENSG00000197483ENST00000598519p.R164Wc.490C>TSubstitution - Missense
SSC5DENSG00000179954ENST00000389623p.G249Gc.747C>TSubstitution - coding silent
NLRP7ENSG00000167634ENST00000446217p.A115Vc.344C>TSubstitution - Missense
LSM14BENSG00000149657ENST00000253001p.Y9Nc.25T>ASubstitution - Missense
ITSN1ENSG00000205726ENST00000381285p.R445Qc.1334G>ASubstitution - Missense
ITSN1ENSG00000205726ENST00000399338p.R445Qc.1334G>ASubstitution - Missense
BTG3ENSG00000154640ENST00000339775p.H286Pc.857A>CSubstitution - Missense
PPDPFENSG00000125534ENST00000370177p.Q108Hc.324G>TSubstitution - Missense
CACNA1IENSG00000100346ENST00000400164p.V1109Ac.3326T>CSubstitution - Missense
TENM3ENSG00000218336ENST00000511685p.C676Wc.2028C>GSubstitution - Missense
NCAPGENSG00000109805ENST00000251496p.Y738Hc.2212T>CSubstitution - Missense
NCAPGENSG00000109805ENST00000251496p.D745Dc.2235T>CSubstitution - coding silent
DOCK2ENSG00000134516ENST00000256935p.Y1220Nc.3658T>ASubstitution - Missense
SPDL1ENSG00000040275ENST00000265295p.E2*c.4G>TSubstitution - Nonsense
FBLL1ENSG00000188573ENST00000338333p.A201Tc.601G>ASubstitution - Missense
PANK3ENSG00000120137ENST00000239231p.L147Pc.440T>CSubstitution - Missense
SLIT3ENSG00000184347ENST00000519560p.D1074Ec.3222C>ASubstitution - Missense
WWC1ENSG00000113645ENST00000265293p.A124Vc.371C>TSubstitution - Missense
STK10ENSG00000072786ENST00000176763p.C487Gc.1459T>GSubstitution - Missense
NPM1ENSG00000181163ENST00000393820p.M65Lc.193A>CSubstitution - Missense
HK3ENSG00000160883ENST00000292432p.D786Gc.2357A>GSubstitution - Missense
GPRIN1ENSG00000169258ENST00000303991p.R58fs*78c.171delCDeletion - Frameshift
SEPP1ENSG00000250722ENST00000514985p.E267Kc.799G>ASubstitution - Missense
ITGA1ENSG00000213949ENST00000282588p.S1003Tc.3007T>ASubstitution - Missense
IPO11ENSG00000086200ENST00000325324p.C706Cc.2118C>TSubstitution - coding silent
PDE4DENSG00000113448ENST00000502484p.Y138Cc.413A>GSubstitution - Missense
PDE4DENSG00000113448ENST00000503258p.Y69Cc.206A>GSubstitution - Missense
PDE4DENSG00000113448ENST00000360047p.Y63Cc.188A>GSubstitution - Missense
VARSENSG00000204394ENST00000375663p.S471Sc.1413T>CSubstitution - coding silent
ATF6BENSG00000213676ENST00000375203p.G680Dc.2039G>ASubstitution - Missense
TNXBENSG00000168477ENST00000375244p.V2819Vc.8457G>ASubstitution - coding silent
TNXBENSG00000168477ENST00000375247p.A3381Tc.10141G>ASubstitution - Missense
STK19ENSG00000204344ENST00000375333p.V343Vc.1029G>ASubstitution - coding silent
CFBENSG00000243649ENST00000425368p.?c.1037-10C>GUnknown
SKIV2LENSG00000204351ENST00000375394p.G638Sc.1912G>ASubstitution - Missense
SKIV2LENSG00000204351ENST00000375394p.G638Sc.1912G>ASubstitution - Missense
SLC44A4ENSG00000204385ENST00000229729p.?c.937+9C>TUnknown
VPS52ENSG00000223501ENST00000445902p.G331Rc.991G>ASubstitution - Missense
HLA-DQB1ENSG00000179344ENST00000399084p.T53Tc.159G>CSubstitution - coding silent
NOTCH4ENSG00000204301ENST00000375023p.A1455Ac.4365C>TSubstitution - coding silent
NOTCH4ENSG00000204301ENST00000375023p.R807Cc.2419C>TSubstitution - Missense
SCUBE3ENSG00000146197ENST00000274938p.E941Kc.2821G>ASubstitution - Missense
ANKS1AENSG00000064999ENST00000360359p.R739Wc.2215C>TSubstitution - Missense
RUNX2ENSG00000124813ENST00000465038p.?c.859+10A>TUnknown
SUPT3HENSG00000196284ENST00000371460p.R319Lc.956G>TSubstitution - Missense
SUPT3HENSG00000196284ENST00000371459p.R308Lc.923G>TSubstitution - Missense
TDRD6ENSG00000180113ENST00000316081p.A666Tc.1996G>ASubstitution - Missense
TDRD6ENSG00000180113ENST00000316081p.L1189Wc.3566T>GSubstitution - Missense
CLIC5ENSG00000112782ENST00000185206p.T341Tc.1023C>ASubstitution - coding silent
CLIC5ENSG00000112782ENST00000339561p.T182Tc.546C>ASubstitution - coding silent
CLIC5ENSG00000112782ENST00000185206p.G104Gc.312C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.G245Sc.733G>ASubstitution - Missense
GCM1ENSG00000137270ENST00000259803p.?c.328+10G>AUnknown
PKHD1ENSG00000170927ENST00000371117p.?c.1694-3C>TUnknown
PKHD1ENSG00000170927ENST00000340994p.?c.1694-3C>TUnknown
ENST00000535226p.R5*c.13C>TSubstitution - Nonsense
HDAC8ENSG00000147099ENST00000373561p.G86Gc.258C>TSubstitution - coding silent
SVEP1ENSG00000165124ENST00000302728p.R496Cc.1486C>TSubstitution - Missense
SH3PXD2AENSG00000107957ENST00000427662p.G267Cc.799G>TSubstitution - Missense
FAM178AENSG00000119906ENST00000370269p.N749Yc.2245A>TSubstitution - Missense
KIAA1598ENSG00000187164ENST00000392903p.P358Pc.1074T>ASubstitution - coding silent
ENST00000378143p.T64Ac.190A>GSubstitution - Missense
KNDC1ENSG00000171798ENST00000368572p.L957Hc.2870T>ASubstitution - Missense
PHYHIPLENSG00000165443ENST00000373878p.R53Hc.158G>ASubstitution - Missense
PGRENSG00000082175ENST00000325455p.E851Ec.2553G>ASubstitution - coding silent
RBP4ENSG00000138207ENST00000371469p.L79Lc.237T>CSubstitution - coding silent
USP47ENSG00000170242ENST00000399455p.T1188Tc.3564T>CSubstitution - coding silent
NUP98ENSG00000110713ENST00000397007p.?c.2311+3A>GUnknown
NUP98ENSG00000110713ENST00000359171p.?c.2260+3A>GUnknown
RNH1ENSG00000023191ENST00000397604p.V422Ic.1264G>ASubstitution - Missense
OR1S2ENSG00000197887ENST00000302592p.T173Pc.517A>CSubstitution - Missense
OR1S1ENSG00000172774ENST00000309433p.A132Sc.394G>TSubstitution - Missense
CPSF7ENSG00000149532ENST00000340437p.R235*c.703C>TSubstitution - Nonsense
ZNF155ENSG00000204920ENST00000270014p.V208Vc.624G>CSubstitution - coding silent
LYPD5ENSG00000159871ENST00000377950p.G65Rc.193G>ASubstitution - Missense
SEMG1ENSG00000124233ENST00000372781p.S312Rc.934A>CSubstitution - Missense
L3MBTL1ENSG00000185513ENST00000427442p.S603Gc.1807A>GSubstitution - Missense
ENST00000373135_v70p.S535Gc.1603A>GSubstitution - Missense
SNX21ENSG00000124104ENST00000491381p.E75_D76delEDc.214_219delGACGAGDeletion - In frame
EPPINENSG00000101448ENST00000555685p.C140Cc.420C>TSubstitution - coding silent
WFDC6ENSG00000243543ENST00000600168p.C40Cc.120C>TSubstitution - coding silent
SYS1ENSG00000204070ENST00000372727p.T118Ac.352A>GSubstitution - Missense
PREX1ENSG00000124126ENST00000371941p.N1174Yc.3520A>TSubstitution - Missense
SULF2ENSG00000196562ENST00000359930p.R394Lc.1181G>TSubstitution - Missense
ZMYND8ENSG00000101040ENST00000461685p.T806Tc.2418C>TSubstitution - coding silent
ZMYND8ENSG00000101040ENST00000461685p.N1138fs*>51c.3411delCDeletion - Frameshift
NEBENSG00000183091ENST00000397345p.A6291Tc.18871G>ASubstitution - Missense
NEBENSG00000183091ENST00000409198p.A4590Tc.13768G>ASubstitution - Missense
RIF1ENSG00000080345ENST00000444746p.V687Vc.2061A>GSubstitution - coding silent
NEBENSG00000183091ENST00000397345p.R1229Gc.3685A>GSubstitution - Missense
NEBENSG00000183091ENST00000409198p.R1229Gc.3685A>GSubstitution - Missense
KITENSG00000157404ENST00000288135p.L644Lc.1932G>ASubstitution - coding silent
LNX1ENSG00000072201ENST00000263925p.H133Rc.398A>GSubstitution - Missense
LNX1ENSG00000072201ENST00000306888p.H37Rc.110A>GSubstitution - Missense
PLA2R1ENSG00000153246ENST00000283243p.G616Gc.1848C>ASubstitution - coding silent
BAZ2BENSG00000123636ENST00000392783p.H74Rc.221A>GSubstitution - Missense
LPHN3ENSG00000150471ENST00000514591p.A585Dc.1754C>ASubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.A585Dc.1754C>ASubstitution - Missense
JAKMIP1ENSG00000152969ENST00000409021p.T309Tc.927G>ASubstitution - coding silent
NOA1ENSG00000084092ENST00000264230p.L388Lc.1164G>ASubstitution - coding silent
POLR2BENSG00000047315ENST00000381227p.Y916Hc.2746T>CSubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.?c.3662+5deltUnknown
LPHN3ENSG00000150471ENST00000512091p.V777Ac.2330T>CSubstitution - Missense
ITGB8ENSG00000105855ENST00000222573p.W711Rc.2131T>CSubstitution - Missense
ENST00000412250p.T383Ac.1147A>GSubstitution - Missense
ENST00000400460p.S281Sc.843G>ASubstitution - coding silent
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
DPP4ENSG00000197635ENST00000360534p.I236Mc.708T>GSubstitution - Missense
STK39ENSG00000198648ENST00000355999p.?c.573-10T>CUnknown
XIRP2ENSG00000163092ENST00000295237p.S2382Sc.7146C>TSubstitution - coding silent
ADCY8ENSG00000155897ENST00000286355p.H752Yc.2254C>TSubstitution - Missense
ASAP1ENSG00000153317ENST00000357668p.K835Mc.2504A>TSubstitution - Missense
NM_002467.2p.Y32Yc.96C>TSubstitution - coding silent
NM_002467.2p.N112Nc.336C>TSubstitution - coding silent
NM_002467.2p.K143Kc.429G>ASubstitution - coding silent
AKNAENSG00000106948ENST00000307564p.W201*c.603G>ASubstitution - Nonsense
COL27A1ENSG00000196739ENST00000356083p.E1339Dc.4017G>TSubstitution - Missense
TNCENSG00000041982ENST00000350763p.I1144Vc.3430A>GSubstitution - Missense
C5ENSG00000106804ENST00000223642p.I545Ic.1635C>TSubstitution - coding silent
CDK5RAP2ENSG00000136861ENST00000349780p.S1643Pc.4927T>CSubstitution - Missense
CDK5RAP2ENSG00000136861ENST00000349780p.L1484Ic.4450C>ASubstitution - Missense
C5ENSG00000106804ENST00000223642p.?c.584+5G>AUnknown
NM_178001.1p.V158Ac.473T>CSubstitution - Missense
ABL1ENSG00000097007ENST00000372348p.A156Tc.466G>ASubstitution - Missense
FNBP1ENSG00000187239ENST00000420781p.?c.1140+6T>CUnknown
HTR3EENSG00000186038ENST00000335304p.T299Kc.896C>ASubstitution - Missense
DVL3ENSG00000161202ENST00000313143p.L694Lc.2082G>ASubstitution - coding silent
SENP2ENSG00000163904ENST00000296257p.L574Fc.1720C>TSubstitution - Missense
IGF2BP2ENSG00000073792ENST00000421047p.?c.152-2A>GUnknown
EPHB3ENSG00000182580ENST00000330394p.R173Hc.518G>ASubstitution - Missense
ECE2ENSG00000145194ENST00000359140p.F475fs*9c.1423_1424delTTDeletion - Frameshift
FGFBP1ENSG00000137440ENST00000382333p.K26fs*23c.77_78delAADeletion - Frameshift
TMEM44ENSG00000145014ENST00000473092p.N305Dc.913A>GSubstitution - Missense
PALLDENSG00000129116ENST00000335742p.Q204*c.610C>TSubstitution - Nonsense
MARCH1ENSG00000145416ENST00000503008p.D30Dc.90C>TSubstitution - coding silent
NAF1ENSG00000145414ENST00000274054p.A323Vc.968C>TSubstitution - Missense
FSTL5ENSG00000168843ENST00000306100p.?c.1842-4T>CUnknown
MDC1ENSG00000137337ENST00000376406p.A413Vc.1238C>TSubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.N1233Sc.3698A>GSubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.N1233Sc.3698A>GSubstitution - Missense
TRIM39ENSG00000204599ENST00000376656p.Y394*c.1182C>GSubstitution - Nonsense
TRIM39ENSG00000204599ENST00000376656p.Y394*c.1182C>GSubstitution - Nonsense
ENST00000539307p.T224Kc.671C>ASubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.T187Kc.560C>ASubstitution - Missense
DPCR1ENSG00000168631ENST00000462446p.A729Tc.2185G>ASubstitution - Missense
SLC26A3ENSG00000091138ENST00000340010p.Q495Qc.1485A>GSubstitution - coding silent
GPR22ENSG00000172209ENST00000304402p.N83Sc.248A>GSubstitution - Missense
IMMP2LENSG00000184903ENST00000331762p.A95Vc.284C>TSubstitution - Missense
IMMP2LENSG00000184903ENST00000437687p.A95Vc.284C>TSubstitution - Missense
GPR85ENSG00000164604ENST00000297146p.H6Nc.16C>ASubstitution - Missense
PPP1R3AENSG00000154415ENST00000284601p.N476fs*4c.1428delTDeletion - Frameshift
CLCN1ENSG00000188037ENST00000343257p.G355Rc.1063G>ASubstitution - Missense
OR6V1ENSG00000225781ENST00000418316p.S252Nc.755G>ASubstitution - Missense
ENST00000297830p.G28Rc.82G>ASubstitution - Missense
CRYGNENSG00000127377ENST00000337323p.R38*c.112C>TSubstitution - Nonsense
CHPF2ENSG00000033100ENST00000035307p.R209Qc.626G>ASubstitution - Missense
TMUB1ENSG00000164897ENST00000392818p.V104_L105insPLVc.313_314insCCCTCGTGCInsertion - In frame
AGAP3ENSG00000133612ENST00000397238p.T234Mc.701C>TSubstitution - Missense
AGAP3ENSG00000133612ENST00000473312p.T234Mc.701C>TSubstitution - Missense
ENST00000397266p.L635Vc.1903C>GSubstitution - Missense
MYO1GENSG00000136286ENST00000258787p.R500Rc.1500C>TSubstitution - coding silent
OGDHENSG00000105953ENST00000222673p.R364Mc.1091G>TSubstitution - Missense
OGDHENSG00000105953ENST00000443864p.R364Mc.1091G>TSubstitution - Missense
OGDHENSG00000105953ENST00000543843p.R315Mc.944G>TSubstitution - Missense
NPC1L1ENSG00000015520ENST00000289547p.R605Cc.1813C>TSubstitution - Missense
NPC1L1ENSG00000015520ENST00000289547p.R242Hc.725G>ASubstitution - Missense
CAMK2BENSG00000058404ENST00000395749p.E13Dc.39G>CSubstitution - Missense
C7orf72ENSG00000164500ENST00000297001p.R398Rc.1194C>TSubstitution - coding silent
LANCL2ENSG00000132434ENST00000254770p.A347Vc.1040C>TSubstitution - Missense
COBLENSG00000106078ENST00000265136p.A1156Ac.3468T>ASubstitution - coding silent
PVRIGENSG00000213413ENST00000317271p.Y233Hc.697T>CSubstitution - Missense
RNF216ENSG00000011275ENST00000389902p.S673Sc.2019T>CSubstitution - coding silent
RIMS2ENSG00000176406ENST00000507740p.?c.2304-9T>CUnknown
PKHD1L1ENSG00000205038ENST00000378402p.P873Tc.2617C>ASubstitution - Missense
ENST00000316490_v65p.R4693Hc.14078G>ASubstitution - Missense
WDR90ENSG00000161996ENST00000293879p.P252Sc.754C>TSubstitution - Missense
PDPRENSG00000090857ENST00000288050p.D190Gc.569A>GSubstitution - Missense
PHLPP2ENSG00000040199ENST00000356272p.I383Nc.1148T>ASubstitution - Missense
WDR90ENSG00000161996ENST00000293879p.S1286Rc.3856A>CSubstitution - Missense
ENST00000316490_v65p.K148Qc.442A>CSubstitution - Missense
ENST00000316490p.K148Qc.442A>CSubstitution - Missense
HYDINENSG00000157423ENST00000393550p.K148Qc.442A>CSubstitution - Missense
HYDINENSG00000157423ENST00000538248p.A699Vc.2096C>TSubstitution - Missense
ENST00000316490_v65p.A672Vc.2015C>TSubstitution - Missense
ENST00000316490p.A672Vc.2015C>TSubstitution - Missense
HYDINENSG00000157423ENST00000393550p.A687Vc.2060C>TSubstitution - Missense
HYDINENSG00000157423ENST00000288168p.A689Vc.2066C>TSubstitution - Missense
RHOT2ENSG00000140983ENST00000315082p.D392Dc.1176C>TSubstitution - coding silent
NPIPB5ENSG00000243716ENST00000424340p.P460fs*12c.1377_1563>17Unknown
NPIPB5ENSG00000243716ENST00000424340p.P460fs*12c.1377_1563>17Unknown
TRAF7ENSG00000131653ENST00000326181p.T601Tc.1803C>TSubstitution - coding silent
PRKCBENSG00000166501ENST00000303531p.P188Pc.564C>ASubstitution - coding silent
PRKCBENSG00000166501ENST00000321728p.P188Pc.564C>ASubstitution - coding silent
AKAP8LENSG00000011243ENST00000397410p.R199Hc.596G>ASubstitution - Missense
REEP6ENSG00000115255ENST00000395484p.C474Yc.1421G>ASubstitution - Missense
EMR3ENSG00000131355ENST00000253673p.V77Ic.229G>ASubstitution - Missense
APC2ENSG00000115266ENST00000233607p.R1249Hc.3746G>ASubstitution - Missense
CYP4F22ENSG00000171954ENST00000269703p.K298Rc.893A>GSubstitution - Missense
AKAP8LENSG00000011243ENST00000397410p.R199Hc.596G>ASubstitution - Missense
ENST00000319396p.R2015Wc.6043C>TSubstitution - Missense
USHBP1ENSG00000130307ENST00000252597p.R12Qc.35G>ASubstitution - Missense
CELENSG00000170835ENST00000372080p.R237Rc.711G>ASubstitution - coding silent
AK8ENSG00000165695ENST00000298545p.A326Tc.976G>ASubstitution - Missense
LCN1ENSG00000160349ENST00000263598p.V128Ac.383T>CSubstitution - Missense
BRD3ENSG00000169925ENST00000303407p.L550Lc.1648C>TSubstitution - coding silent
VAV2ENSG00000160293ENST00000371850p.V434Ic.1300G>ASubstitution - Missense
VAV2ENSG00000160293ENST00000406606p.V429Ic.1285G>ASubstitution - Missense
LHX3ENSG00000107187ENST00000371746p.F114Fc.342C>TSubstitution - coding silent
PTPRDENSG00000153707ENST00000355233p.L1203Lc.3607C>TSubstitution - coding silent
PTPRDENSG00000153707ENST00000381196p.L1609Lc.4825C>TSubstitution - coding silent
PTPRDENSG00000153707ENST00000537002p.L1199Lc.3595C>TSubstitution - coding silent
ENST00000346816p.L1080Lc.3238C>TSubstitution - coding silent
SPATA31E1ENSG00000177992ENST00000325643p.A1101Vc.3302C>TSubstitution - Missense
ROR2ENSG00000169071ENST00000375708p.Y268Hc.802T>CSubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.Q2300Rc.6899A>GSubstitution - Missense
AXLENSG00000167601ENST00000301178p.R48Lc.143G>TSubstitution - Missense
AXLENSG00000167601ENST00000359092p.R48Lc.143G>TSubstitution - Missense
PPP1R17ENSG00000106341ENST00000342032p.L109Mc.325C>ASubstitution - Missense
ADCYAP1R1ENSG00000078549ENST00000304166p.?c.52-6C>AUnknown
INHBAENSG00000122641ENST00000242208p.?c.389-1G>TUnknown
GPR112ENSG00000156920ENST00000394143p.?c.71-4A>GUnknown
PGAM2ENSG00000164708ENST00000297283p.R65Hc.194G>ASubstitution - Missense
HECW1ENSG00000002746ENST00000395891p.R991Qc.2972G>ASubstitution - Missense
HECW1ENSG00000002746ENST00000395891p.R991Qc.2972G>ASubstitution - Missense
PSMA2ENSG00000106588ENST00000223321p.?c.374+2T>CUnknown
MAGEC1ENSG00000155495ENST00000285879p.F817Lc.2449T>CSubstitution - Missense
CXorf66ENSG00000203933ENST00000370540p.D339Gc.1016A>GSubstitution - Missense
PNMA5ENSG00000198883ENST00000361887p.R392Hc.1175G>ASubstitution - Missense
APBB3ENSG00000113108ENST00000354402p.R85fs*43c.246delCDeletion - Frameshift
PCDHA3ENSG00000255408ENST00000522353p.P470Tc.1408C>ASubstitution - Missense
PCDHA2ENSG00000204969ENST00000526136p.A771Tc.2311G>ASubstitution - Missense
PCDHA2ENSG00000204969ENST00000378132p.A771Tc.2311G>ASubstitution - Missense
PCDHA1ENSG00000204970ENST00000378133p.L739Mc.2215C>ASubstitution - Missense
PCDHA1ENSG00000204970ENST00000378133p.V510Ac.1529T>CSubstitution - Missense
PCDHA13ENSG00000239389ENST00000289272p.A731Ac.2193G>ASubstitution - coding silent
PCDHA12ENSG00000251664ENST00000398631p.V86Vc.258G>ASubstitution - coding silent
PCDHA12ENSG00000251664ENST00000398631p.D481Gc.1442A>GSubstitution - Missense
PCDHB6ENSG00000113211ENST00000231136p.A406Tc.1216G>ASubstitution - Missense
PCDHAC2ENSG00000243232ENST00000289269p.K990Rc.2969A>GSubstitution - Missense
PCDHA6ENSG00000081842ENST00000529310p.K933Rc.2798A>GSubstitution - Missense
PCDHA13ENSG00000239389ENST00000289272p.K933Rc.2798A>GSubstitution - Missense
PCDHA2ENSG00000204969ENST00000526136p.K931Rc.2792A>GSubstitution - Missense
PCDHA4ENSG00000204967ENST00000530339p.K930Rc.2789A>GSubstitution - Missense
PCDHA7ENSG00000204963ENST00000525929p.K920Rc.2759A>GSubstitution - Missense
PCDHA5ENSG00000204965ENST00000529859p.K919Rc.2756A>GSubstitution - Missense
PCDHA10ENSG00000250120ENST00000506939p.K668Rc.2003A>GSubstitution - Missense
DCTN4ENSG00000132912ENST00000447998p.S53Gc.157A>GSubstitution - Missense
ENST00000274705p.R724Hc.2171G>ASubstitution - Missense
SLC36A2ENSG00000186335ENST00000335244p.G66Sc.196G>ASubstitution - Missense
ANXA6ENSG00000197043ENST00000354546p.G193Gc.579A>TSubstitution - coding silent
ANXA6ENSG00000197043ENST00000356496p.G245Gc.735A>TSubstitution - coding silent
CYFIP2ENSG00000055163ENST00000377576p.R142Wc.424C>TSubstitution - Missense
CYFIP2ENSG00000055163ENST00000318218p.A405Tc.1213G>ASubstitution - Missense
CYFIP2ENSG00000055163ENST00000442283p.A405Tc.1213G>ASubstitution - Missense
CYFIP2ENSG00000055163ENST00000377576p.A405Tc.1213G>ASubstitution - Missense
GALNT10ENSG00000164574ENST00000297107p.E102Kc.304G>ASubstitution - Missense
MYO10ENSG00000145555ENST00000274203p.?c.4666+6T>CUnknown
HIST1H1BENSG00000184357ENST00000331442p.S2Lc.5C>TSubstitution - Missense
HIST1H4KENSG00000197914ENST00000357549p.Y89Cc.266A>GSubstitution - Missense
TRIM10ENSG00000204613ENST00000449742p.E158Gc.473A>GSubstitution - Missense
TRIM10ENSG00000204613ENST00000449742p.E158Gc.473A>GSubstitution - Missense
TRIM10ENSG00000204613ENST00000376704p.E158Gc.473A>GSubstitution - Missense
MOGENSG00000204655ENST00000494692p.F73fs*3c.216_217insCInsertion - Frameshift
OR5V1ENSG00000243729ENST00000377154p.A255Vc.764C>TSubstitution - Missense
VARS2ENSG00000137411ENST00000321897p.L269Lc.805T>CSubstitution - coding silent
TRPS1ENSG00000104447ENST00000395715p.Q1020Rc.3059A>GSubstitution - Missense
EIF3HENSG00000147677ENST00000521861p.V149Ic.445G>ASubstitution - Missense
ATAD2ENSG00000156802ENST00000287394p.R195Cc.583C>TSubstitution - Missense
STX17ENSG00000136874ENST00000259400p.?c.531+6T>CUnknown
ACTL7BENSG00000148156ENST00000374667p.R31Qc.92G>ASubstitution - Missense
IKBKAPENSG00000070061ENST00000374647p.S348Pc.1042T>CSubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.G284Ec.851G>ASubstitution - Missense
ECHDC1ENSG00000093144ENST00000531967p.K45Kc.135A>GSubstitution - coding silent
SLC2A12ENSG00000146411ENST00000275230p.V326Ic.976G>ASubstitution - Missense
BCKDHBENSG00000083123ENST00000356489p.Y167Hc.499T>CSubstitution - Missense
FILIP1ENSG00000118407ENST00000237172p.R254Tc.761G>CSubstitution - Missense
SNAP91ENSG00000065609ENST00000369694p.K40Kc.120G>ASubstitution - coding silent
SNAP91ENSG00000065609ENST00000439399p.K40Kc.120G>ASubstitution - coding silent
SLC35A1ENSG00000164414ENST00000369552p.A279Vc.836C>TSubstitution - Missense
UFL1ENSG00000014123ENST00000369278p.I369Mc.1107A>GSubstitution - Missense
CRLF3ENSG00000176390ENST00000324238p.A373Tc.1117G>ASubstitution - Missense
OR1D2ENSG00000184166ENST00000331459p.I46Vc.136A>GSubstitution - Missense
SLFN12LENSG00000205045ENST00000361112p.M542Tc.1625T>CSubstitution - Missense
ARHGEF33ENSG00000214694ENST00000398800p.R398Hc.1193G>ASubstitution - Missense
LRPPRCENSG00000138095ENST00000260665p.R449Cc.1345C>TSubstitution - Missense
MSH2ENSG00000095002ENST00000233146p.?c.942+3_942+13delaaaaaaaaaaaUnknown
MSH2ENSG00000095002ENST00000233146p.?c.2005+3delaUnknown
GHDCENSG00000167925ENST00000301671p.P316fs*38c.947delCDeletion - Frameshift
JUPENSG00000173801ENST00000393930p.W495*c.1485G>ASubstitution - Nonsense
KRT19ENSG00000171345ENST00000361566p.R32Cc.94C>TSubstitution - Missense
AOC3ENSG00000131471ENST00000308423p.R216Cc.646C>TSubstitution - Missense
CNTNAP1ENSG00000108797ENST00000264638p.G606Dc.1817G>ASubstitution - Missense
PLEKHH3ENSG00000068137ENST00000293349p.R183Cc.547C>TSubstitution - Missense
SLC4A1ENSG00000004939ENST00000262418p.P97Pc.291G>ASubstitution - coding silent
HDAC5ENSG00000108840ENST00000393622p.L619Lc.1857G>ASubstitution - coding silent
DCAKDENSG00000172992ENST00000310604p.R108Hc.323G>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.G1182Vc.3545G>TSubstitution - Missense
CACNA1GENSG00000006283ENST00000416767p.G1182Vc.3545G>TSubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.G1182Vc.3545G>TSubstitution - Missense
NLRP1ENSG00000091592ENST00000572272p.N175Sc.524A>GSubstitution - Missense
NLRP1ENSG00000091592ENST00000262467p.N175Sc.524A>GSubstitution - Missense
NLRP1ENSG00000091592ENST00000572272p.N175Sc.524A>GSubstitution - Missense
USP32ENSG00000170832ENST00000300896p.?c.4548+10T>GUnknown
PRR11ENSG00000068489ENST00000262293p.K248delKc.741_743delGAADeletion - In frame
TEX14ENSG00000121101ENST00000240361p.L562Pc.1685T>CSubstitution - Missense
CACTINENSG00000105298ENST00000221899p.G442Gc.1326C>TSubstitution - coding silent
ENST00000328088p.A470Vc.1409C>TSubstitution - Missense
KIRREL2ENSG00000126259ENST00000360202p.A296Vc.887C>TSubstitution - Missense
KIRREL2ENSG00000126259ENST00000262625p.A296Vc.887C>TSubstitution - Missense
ZNF585AENSG00000196967ENST00000356958p.Q144*c.430C>TSubstitution - Nonsense
CATSPERGENSG00000099338ENST00000312265p.S480Gc.1438A>GSubstitution - Missense
WDR87ENSG00000171804ENST00000303868p.E2188_V2189insEc.6563_6564insAGAInsertion - In frame
SIENSG00000090402ENST00000264382p.Q307Qc.921G>ASubstitution - coding silent
MYNNENSG00000085274ENST00000349841p.S131Gc.391A>GSubstitution - Missense
SOX2ENSG00000181449ENST00000431565p.T222Ic.665C>TSubstitution - Missense
PCDHGA6ENSG00000253731ENST00000517434p.A367Tc.1099G>ASubstitution - Missense
PCDHGB2ENSG00000253910ENST00000522605p.E204Dc.612G>TSubstitution - Missense
PCDHGB2ENSG00000253910ENST00000522605p.R518Cc.1552C>TSubstitution - Missense
PCDHGB7ENSG00000254122ENST00000398594p.D576Nc.1726G>ASubstitution - Missense
PCDHGA12ENSG00000253159ENST00000252085p.D237Gc.710A>GSubstitution - Missense
PCDHGB6ENSG00000253305ENST00000520790p.P466Pc.1398G>ASubstitution - coding silent
PCDHGB4ENSG00000253953ENST00000519479p.D373Nc.1117G>ASubstitution - Missense
TCERG1ENSG00000113649ENST00000296702p.R889Lc.2666G>TSubstitution - Missense
ABLIM3ENSG00000173210ENST00000309868p.Y24Cc.71A>GSubstitution - Missense
ABLIM3ENSG00000173210ENST00000309868p.R81Hc.242G>ASubstitution - Missense
FBXO38ENSG00000145868ENST00000340253p.S635Pc.1903T>CSubstitution - Missense
PPP2R2BENSG00000156475ENST00000336640p.R143Wc.427C>TSubstitution - Missense
PPP2R2BENSG00000156475ENST00000394409p.R198Wc.592C>TSubstitution - Missense
GFI1BENSG00000165702ENST00000372122p.E67Gc.200A>GSubstitution - Missense
PAQR9ENSG00000188582ENST00000340634p.R365Kc.1094G>ASubstitution - Missense
PAQR9ENSG00000188582ENST00000340634p.A139Ac.417G>ASubstitution - coding silent
ZNF827ENSG00000151612ENST00000379448p.S837Lc.2510C>TSubstitution - Missense
STOX2ENSG00000173320ENST00000308497p.H377Rc.1130A>GSubstitution - Missense
GLRBENSG00000109738ENST00000264428p.A365fs*22c.1088delADeletion - Frameshift
KLKB1ENSG00000164344ENST00000264690p.P581Lc.1742C>TSubstitution - Missense
GPR125ENSG00000152990ENST00000334304p.T377Mc.1130C>TSubstitution - Missense
SLIT2ENSG00000145147ENST00000504154p.A412Sc.1234G>TSubstitution - Missense
PCDH7ENSG00000169851ENST00000361762p.T440Pc.1318A>CSubstitution - Missense
ZNF474ENSG00000164185ENST00000296600p.P197Pc.591A>GSubstitution - coding silent
FAM170AENSG00000164334ENST00000335286p.D184Nc.550G>ASubstitution - Missense
HSD17B4ENSG00000133835ENST00000256216p.G657Dc.1970G>ASubstitution - Missense
ACSL6ENSG00000164398ENST00000296869p.C192*c.576C>ASubstitution - Nonsense
JADE2ENSG00000043143ENST00000395003p.D755Gc.2264A>GSubstitution - Missense
VCANENSG00000038427ENST00000265077p.K2538fs*8c.7608delADeletion - Frameshift
ZDHHC11ENSG00000188818ENST00000283441p.?c.1147-5C>AUnknown
ZDHHC11ENSG00000188818ENST00000424784p.?c.1147-5C>AUnknown
GPR98ENSG00000164199ENST00000405460p.F710Fc.2130T>CSubstitution - coding silent
ZDHHC11ENSG00000188818ENST00000424784p.T230Ic.689C>TSubstitution - Missense
ELL2ENSG00000118985ENST00000237853p.E284Dc.852G>TSubstitution - Missense
FAM81BENSG00000153347ENST00000283357p.A191Vc.572C>TSubstitution - Missense
DIAPH2ENSG00000147202ENST00000324765p.L258Sc.773T>CSubstitution - Missense
ZFYENSG00000067646ENST00000383052p.S286Nc.857G>ASubstitution - Missense
FAM69CENSG00000187773ENST00000400291p.A79Ac.237G>ASubstitution - coding silent
NETO1ENSG00000166342ENST00000327305p.L395Lc.1185A>GSubstitution - coding silent
LAMA1ENSG00000101680ENST00000389658p.K1642Tc.4925A>CSubstitution - Missense
ANKRD12ENSG00000101745ENST00000262126p.A1605Ac.4815A>GSubstitution - coding silent
PPP4R1ENSG00000154845ENST00000400556p.E451Gc.1352A>GSubstitution - Missense
CTDP1ENSG00000060069ENST00000299543p.S776Fc.2327C>TSubstitution - Missense
CTDP1ENSG00000060069ENST00000299543p.V150Ac.449T>CSubstitution - Missense
SALL3ENSG00000256463ENST00000537592p.Q216Qc.648G>ASubstitution - coding silent
ICAM1ENSG00000090339ENST00000264832p.E333*c.997G>TSubstitution - Nonsense
SH3BP1ENSG00000100092ENST00000357436p.R408Wc.1222C>TSubstitution - Missense
MPSTENSG00000128309ENST00000401419p.D239Gc.716A>GSubstitution - Missense
APOL2ENSG00000128335ENST00000358502p.P234Pc.702T>CSubstitution - coding silent
APOBEC3GENSG00000239713ENST00000407997p.R238Hc.713G>ASubstitution - Missense
APOBEC3GENSG00000239713ENST00000407997p.R238Hc.713G>ASubstitution - Missense
CBX6ENSG00000183741ENST00000407418p.G248Sc.742G>ASubstitution - Missense
KCNJ4ENSG00000168135ENST00000303592p.L423Pc.1268T>CSubstitution - Missense
TRIOBPENSG00000100106ENST00000407319p.?c.548+6T>CUnknown
ADSLENSG00000239900ENST00000216194p.?c.357+7G>AUnknown
CACNA1IENSG00000100346ENST00000402142p.V1144Ac.3431T>CSubstitution - Missense
ZC3H7BENSG00000100403ENST00000352645p.Q954Qc.2862A>GSubstitution - coding silent
ARMC2ENSG00000118690ENST00000392644p.L807Pc.2420T>CSubstitution - Missense
OSTM1ENSG00000081087ENST00000193322p.R312Hc.935G>ASubstitution - Missense
BEND3ENSG00000178409ENST00000369042p.C817Yc.2450G>ASubstitution - Missense
SOBPENSG00000112320ENST00000317357p.H206Hc.618C>TSubstitution - coding silent
REV3LENSG00000009413ENST00000358835p.N1867fs*12c.5600delADeletion - Frameshift
FAM26DENSG00000164451ENST00000405399p.E116Kc.346G>ASubstitution - Missense
FAM26DENSG00000164451ENST00000368597p.E73Kc.217G>ASubstitution - Missense
NEDD9ENSG00000111859ENST00000379446p.V431Fc.1291G>TSubstitution - Missense
DSTENSG00000151914ENST00000370769p.A2444Vc.7331C>TSubstitution - Missense
COL21A1ENSG00000124749ENST00000244728p.R220Rc.658C>ASubstitution - coding silent
HMGCLL1ENSG00000146151ENST00000398661p.Y148Hc.442T>CSubstitution - Missense
ROS1ENSG00000047936ENST00000368507p.S1701Nc.5102G>ASubstitution - Missense
EYSENSG00000188107ENST00000342421p.N117Sc.350A>GSubstitution - Missense
EYSENSG00000188107ENST00000370621p.N117Sc.350A>GSubstitution - Missense
EYSENSG00000188107ENST00000370621p.I90Fc.268A>TSubstitution - Missense
NM_000947.2p.T264Ac.790A>GSubstitution - Missense
CD109ENSG00000156535ENST00000287097p.G1119Vc.3356G>TSubstitution - Missense
DDX43ENSG00000080007ENST00000370336p.L402*c.1205T>ASubstitution - Nonsense
CSMD3ENSG00000164796ENST00000297405p.L949Pc.2846T>CSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.L909Pc.2726T>CSubstitution - Missense
TRPS1ENSG00000104447ENST00000395715p.Q1020Rc.3059A>GSubstitution - Missense
XM_374396.2p.G453Sc.1357G>ASubstitution - Missense
PRKAR1BENSG00000188191ENST00000360274p.E196Ac.587A>CSubstitution - Missense
USP42ENSG00000106346ENST00000306177p.G325Sc.973G>ASubstitution - Missense
RELNENSG00000189056ENST00000343529p.M1668Ic.5004G>CSubstitution - Missense
SBDSENSG00000126524ENST00000246868p.T5Ac.13A>GSubstitution - Missense
VKORC1L1ENSG00000196715ENST00000360768p.N87Sc.260A>GSubstitution - Missense
ARRDC1ENSG00000197070ENST00000371421p.T395Ac.1183A>GSubstitution - Missense
ENTPD8ENSG00000188833ENST00000344119p.A77Tc.229G>ASubstitution - Missense
TOR4AENSG00000198113ENST00000357503p.L85Lc.253C>TSubstitution - coding silent
GRIN1ENSG00000176884ENST00000371561p.H53Hc.159C>TSubstitution - coding silent
NPDC1ENSG00000107281ENST00000371600p.G64Gc.192C>TSubstitution - coding silent
CNTLNENSG00000044459ENST00000380647p.K951Nc.2853G>TSubstitution - Missense
FOCADENSG00000188352ENST00000380249p.N43Hc.127A>CSubstitution - Missense
ZXDAENSG00000198205ENST00000358697p.C427Yc.1280G>ASubstitution - Missense
NM_001010888.1p.V695Fc.2083G>TSubstitution - Missense
ZC3H12BENSG00000102053ENST00000338957p.V609Fc.1825G>TSubstitution - Missense
MTMR8ENSG00000102043ENST00000453546p.A319Ac.957T>CSubstitution - coding silent
NLGN3ENSG00000196338ENST00000358741p.Q576*c.1726C>TSubstitution - Nonsense
NLGN3ENSG00000196338ENST00000374051p.Q556*c.1666C>TSubstitution - Nonsense
ATRXENSG00000085224ENST00000373344p.T1973Ac.5917A>GSubstitution - Missense
ATRXENSG00000085224ENST00000373344p.T1973Ac.5917A>GSubstitution - Missense
ABCB7ENSG00000131269ENST00000253577p.H7Lc.20A>TSubstitution - Missense
MAGEE1ENSG00000198934ENST00000361470p.P297Ac.889C>GSubstitution - Missense
ENST00000373468p.L671Lc.2011C>TSubstitution - coding silent
HDAC8ENSG00000147099ENST00000373573p.G86Gc.258C>TSubstitution - coding silent
COLGALT1ENSG00000130309ENST00000252599p.L622Lc.1866C>ASubstitution - coding silent
CRTC1ENSG00000105662ENST00000321949p.S572fs*4c.1705_1706insCInsertion - Frameshift
GMIPENSG00000089639ENST00000203556p.R410Hc.1229G>ASubstitution - Missense
SUGP2ENSG00000064607ENST00000337018p.Y63Cc.188A>GSubstitution - Missense
UPF1ENSG00000005007ENST00000262803p.?c.3237+8C>TUnknown
ENST00000427170_v68p.T274Tc.822G>ASubstitution - coding silent
PVRL2ENSG00000130202ENST00000252485p.S264Tc.790T>ASubstitution - Missense
ZNF100ENSG00000197020ENST00000358296p.P260Sc.778C>TSubstitution - Missense
ZNF493ENSG00000196268ENST00000392288p.I220Fc.658A>TSubstitution - Missense
ZNF493ENSG00000196268ENST00000355504p.I92Fc.274A>TSubstitution - Missense
ZNF493ENSG00000196268ENST00000392288p.K291Nc.873A>CSubstitution - Missense
FOSBENSG00000125740ENST00000353609p.R139Rc.415C>ASubstitution - coding silent
KLC3ENSG00000104892ENST00000391946p.A175Tc.523G>ASubstitution - Missense
PVRL2ENSG00000130202ENST00000252483p.S264Tc.790T>ASubstitution - Missense
NPAS1ENSG00000130751ENST00000449844p.V306Ic.916G>ASubstitution - Missense
ZNF114ENSG00000178150ENST00000315849p.T57Ac.169A>GSubstitution - Missense
PLA2G4CENSG00000105499ENST00000413144p.F281fs*5c.843delTDeletion - Frameshift
TULP2ENSG00000104804ENST00000221399p.S451Lc.1352C>TSubstitution - Missense
GRWD1ENSG00000105447ENST00000253237p.F210Fc.630C>TSubstitution - coding silent
PDPK1ENSG00000140992ENST00000342085p.Q66Qc.198G>ASubstitution - coding silent
ATP2A1ENSG00000196296ENST00000357084p.K328Nc.984G>TSubstitution - Missense
XPO6ENSG00000169180ENST00000304658p.I42Tc.125T>CSubstitution - Missense
CORO1AENSG00000102879ENST00000219150p.T279Ic.836C>TSubstitution - Missense
ZNF785ENSG00000197162ENST00000395216p.K226Nc.678G>TSubstitution - Missense
SETD1AENSG00000099381ENST00000262519p.R461fs*36c.1376delCDeletion - Frameshift
PTPN18ENSG00000072135ENST00000175756p.G137Vc.410G>TSubstitution - Missense
TUBA3EENSG00000152086ENST00000312988p.R215Hc.644G>ASubstitution - Missense
THSD7BENSG00000144229ENST00000413152p.H678Hc.2034C>TSubstitution - coding silent
THSD7BENSG00000144229ENST00000413152p.R933Hc.2798G>ASubstitution - Missense
THSD7BENSG00000144229ENST00000272643p.R1211Cc.3631C>TSubstitution - Missense
PHLDB2ENSG00000144824ENST00000431670p.R539Gc.1615A>GSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.T2119Mc.6356C>TSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.?c.9244-1G>TUnknown
LRP1BENSG00000168702ENST00000389484p.E4198Gc.12593A>GSubstitution - Missense
CCDC80ENSG00000091986ENST00000206423p.L772Ic.2314C>ASubstitution - Missense
UBA5ENSG00000081307ENST00000356232p.L397Ic.1189C>ASubstitution - Missense
EPHB1ENSG00000154928ENST00000398015p.R663Wc.1987C>TSubstitution - Missense
IL20RBENSG00000174564ENST00000329582p.V209Mc.625G>ASubstitution - Missense
CNTN6ENSG00000134115ENST00000446702p.K274Qc.820A>CSubstitution - Missense
FTHL17ENSG00000132446ENST00000359202p.R10Cc.28C>TSubstitution - Missense
LPIN1ENSG00000134324ENST00000256720p.A498Tc.1492G>ASubstitution - Missense
GLI2ENSG00000074047ENST00000361492p.S308fs*9c.918delGDeletion - Frameshift
GLI2ENSG00000074047ENST00000361492p.S713fs*11c.2132delCDeletion - Frameshift
SNTG2ENSG00000172554ENST00000308624p.M226Ic.678G>ASubstitution - Missense
CCDC108ENSG00000181378ENST00000341552p.P625Pc.1875G>ASubstitution - coding silent
NHEJ1ENSG00000187736ENST00000356853p.D250Nc.748G>ASubstitution - Missense
OBSL1ENSG00000124006ENST00000404537p.V799Fc.2395G>TSubstitution - Missense
COL4A3ENSG00000169031ENST00000396578p.P1103Tc.3307C>ASubstitution - Missense
DOCK10ENSG00000135905ENST00000258390p.A1133Vc.3398C>TSubstitution - Missense
DNERENSG00000187957ENST00000341772p.I661Vc.1981A>GSubstitution - Missense
CCL20ENSG00000115009ENST00000358813p.R39Hc.116G>ASubstitution - Missense
DAW1ENSG00000123977ENST00000309931p.V181Gc.542T>GSubstitution - Missense
DGKDENSG00000077044ENST00000264057p.L772Mc.2314C>ASubstitution - Missense
GIGYF2ENSG00000204120ENST00000409451p.T5Tc.15G>ASubstitution - coding silent
SAGENSG00000130561ENST00000409110p.L310Lc.930T>CSubstitution - coding silent
SAGENSG00000130561ENST00000409110p.L310Lc.930T>CSubstitution - coding silent
SCLYENSG00000132330ENST00000254663p.Y277Cc.830A>GSubstitution - Missense
ESPNLENSG00000144488ENST00000343063p.E238Ec.714G>ASubstitution - coding silent
IQCA1ENSG00000132321ENST00000409907p.V770Vc.2310T>CSubstitution - coding silent
IQCA1ENSG00000132321ENST00000409907p.Y402Hc.1204T>CSubstitution - Missense
ENST00000432605_v68p.R111Tc.332G>CSubstitution - Missense
TMEM18ENSG00000151353ENST00000281017p.E25Ac.74A>CSubstitution - Missense
CEP68ENSG00000011523ENST00000377990p.S13Cc.38C>GSubstitution - Missense
ADCY5ENSG00000173175ENST00000462833p.A609Sc.1825G>TSubstitution - Missense
BMP10ENSG00000163217ENST00000295379p.N247Nc.741T>CSubstitution - coding silent
ADCY5ENSG00000173175ENST00000462833p.P1259fs*>3c.3776delCDeletion - Frameshift
SEC61A1ENSG00000058262ENST00000243253p.V255Dc.764T>ASubstitution - Missense
TPRA1ENSG00000163870ENST00000355552p.A351Tc.1051G>ASubstitution - Missense
MCM2ENSG00000073111ENST00000265056p.L696Mc.2086C>ASubstitution - Missense
PLXNA1ENSG00000114554ENST00000393409p.E1056Gc.3167A>GSubstitution - Missense
OSBPL11ENSG00000144909ENST00000296220p.K692Nc.2076G>TSubstitution - Missense
COL6A5ENSG00000172752ENST00000265379p.R2103Sc.6309G>TSubstitution - Missense
COL6A5ENSG00000172752ENST00000312481p.R142Sc.426G>TSubstitution - Missense
COPG1ENSG00000181789ENST00000314797p.A858Vc.2573C>TSubstitution - Missense
SCUBE1ENSG00000159307ENST00000360835p.I828Vc.2482A>GSubstitution - Missense
SCUBE1ENSG00000159307ENST00000360835p.P777Pc.2331G>ASubstitution - coding silent
CYP2D6ENSG00000100197ENST00000360608p.R269fs*5c.805_806insCInsertion - Frameshift
SREBF2ENSG00000198911ENST00000361204p.M854Lc.2560A>TSubstitution - Missense
SULT4A1ENSG00000130540ENST00000330884p.E7Ec.21G>ASubstitution - coding silent
PNPLA3ENSG00000100344ENST00000216180p.L102Ic.304C>ASubstitution - Missense
ZBED4ENSG00000100426ENST00000216268p.S812Ic.2435G>TSubstitution - Missense
SBF1ENSG00000100241ENST00000390679p.T1819Tc.5457G>ASubstitution - coding silent
ENSG00000073169ENST00000380903p.P395Pc.1185G>ASubstitution - coding silent
ENSG00000073169ENST00000380903p.L428Pc.1283T>CSubstitution - Missense
SBF1ENSG00000100241ENST00000380817p.L1478Rc.4433T>GSubstitution - Missense
TMEM89ENSG00000183396ENST00000330862p.R89Wc.265C>TSubstitution - Missense
COL7A1ENSG00000114270ENST00000328333p.G2076Cc.6226G>TSubstitution - Missense
ANKRD31ENSG00000145700ENST00000274361p.V182Ac.545T>CSubstitution - Missense
ENC1ENSG00000171617ENST00000302351p.A372Vc.1115C>TSubstitution - Missense
ENC1ENSG00000171617ENST00000302351p.Y220Cc.659A>GSubstitution - Missense
ZNF76ENSG00000065029ENST00000373953p.Q432fs*4c.1289delCDeletion - Frameshift
ENST00000238522p.P1166Pc.3498T>GSubstitution - coding silent
ADCY2ENSG00000078295ENST00000338316p.F700Sc.2099T>CSubstitution - Missense
CMTR1ENSG00000137200ENST00000373451p.G806Gc.2418C>TSubstitution - coding silent
DAAM2ENSG00000146122ENST00000538976p.L362Lc.1084T>CSubstitution - coding silent
DNAH8ENSG00000124721ENST00000359357p.A3115Ac.9345T>GSubstitution - coding silent
DNAH8ENSG00000124721ENST00000359357p.Y2395Hc.7183T>CSubstitution - Missense
NM_001371.1p.Y2395Hc.7183T>CSubstitution - Missense
TRERF1ENSG00000124496ENST00000372922p.R869Wc.2605C>TSubstitution - Missense
ENST00000394167p.P648Pc.1944A>GSubstitution - coding silent
ACTL6BENSG00000077080ENST00000160382p.T348Tc.1044C>TSubstitution - coding silent
MEPCEENSG00000146834ENST00000310512p.R140Wc.418C>TSubstitution - Missense
CUX1ENSG00000257923ENST00000292535p.D305Gc.914A>GSubstitution - Missense
TCF7L1ENSG00000152284ENST00000282111p.?c.989+1_989+4delgtaaUnknown
MED12LENSG00000144893ENST00000474524p.R1027Gc.3079A>GSubstitution - Missense
FGD5ENSG00000154783ENST00000285046p.G455Gc.1365T>CSubstitution - coding silent
FGD5ENSG00000154783ENST00000285046p.S250Nc.749G>ASubstitution - Missense
DHX36ENSG00000174953ENST00000496811p.D562Gc.1685A>GSubstitution - Missense
ARHGEF26ENSG00000114790ENST00000356448p.A180Tc.538G>ASubstitution - Missense
ARHGEF26ENSG00000114790ENST00000356448p.A180Tc.538G>ASubstitution - Missense
ARHGEF26ENSG00000114790ENST00000356448p.A180Tc.538G>ASubstitution - Missense
ARHGEF26ENSG00000114790ENST00000465817p.A180Tc.538G>ASubstitution - Missense
ENST00000356517_v68p.?c.603+10A>GUnknown
KCNAB1ENSG00000169282ENST00000490337p.Y236Cc.707A>GSubstitution - Missense
KCNAB1ENSG00000169282ENST00000471742p.Y225Cc.674A>GSubstitution - Missense
KCNAB1ENSG00000169282ENST00000302490p.Y218Cc.653A>GSubstitution - Missense
MLF1ENSG00000178053ENST00000392822p.E150Ec.450A>GSubstitution - coding silent
GFM1ENSG00000168827ENST00000486715p.L591fs*1c.1768delTDeletion - Frameshift
ANKRD28ENSG00000206560ENST00000383777p.L860fs*19c.2579_2580delTCDeletion - Frameshift
ANKRD28ENSG00000206560ENST00000399451p.L294fs*19c.881_882delTCDeletion - Frameshift
SYNPO2ENSG00000172403ENST00000307142p.A380Tc.1138G>ASubstitution - Missense
SYNPO2ENSG00000172403ENST00000307142p.A380Tc.1138G>ASubstitution - Missense
SYNPO2ENSG00000172403ENST00000434046p.A380Tc.1138G>ASubstitution - Missense
CTBP1ENSG00000159692ENST00000290921p.A274Vc.821C>TSubstitution - Missense
PCDH10ENSG00000138650ENST00000264360p.S168Pc.502T>CSubstitution - Missense
RAB28ENSG00000157869ENST00000330852p.I45Mc.135A>GSubstitution - Missense
BOD1L1ENSG00000038219ENST00000040738p.?c.8884+2T>CUnknown
ZFP62ENSG00000196670ENST00000512132p.A387fs*158c.1159delGDeletion - Frameshift
TBC1D9BENSG00000197226ENST00000356834p.E765Ec.2295G>ASubstitution - coding silent
CDH9ENSG00000113100ENST00000231021p.I710Ic.2130T>ASubstitution - coding silent
CDH10ENSG00000040731ENST00000264463p.F384fs*23c.1152delTDeletion - Frameshift
CDH10ENSG00000040731ENST00000264463p.A296Vc.887C>TSubstitution - Missense
TARSENSG00000113407ENST00000265112p.R699Hc.2096G>ASubstitution - Missense
ECT2LENSG00000203734ENST00000367682p.I883Mc.2649A>GSubstitution - Missense
KIAA1244ENSG00000112379ENST00000251691p.T2154Ic.6461C>TSubstitution - Missense
NM_020340.2p.T2083Ic.6248C>TSubstitution - Missense
UTRNENSG00000152818ENST00000367545p.?c.3507+7C>TUnknown
LATS1ENSG00000131023ENST00000253339p.P373Qc.1118C>ASubstitution - Missense
SASH1ENSG00000111961ENST00000367467p.?c.1944+7C>TUnknown
ADGBENSG00000118492ENST00000397944p.K1452Rc.4355A>GSubstitution - Missense
ADGBENSG00000118492ENST00000367493p.K397Rc.1190A>GSubstitution - Missense
OPRM1ENSG00000112038ENST00000434900p.W321*c.963G>ASubstitution - Nonsense
OPRM1ENSG00000112038ENST00000360422p.W228*c.684G>ASubstitution - Nonsense
ARID1BENSG00000049618ENST00000275248p.Y1407Yc.4221T>CSubstitution - coding silent
TMEM242ENSG00000215712ENST00000400788p.N111Sc.332A>GSubstitution - Missense
MAP3K4ENSG00000085511ENST00000392142p.S178fs*9c.531_532insAInsertion - Frameshift
SLC22A1ENSG00000175003ENST00000366963p.F244Fc.732C>TSubstitution - coding silent
MAP3K4ENSG00000085511ENST00000392142p.S178fs*9c.531_532insAInsertion - Frameshift
GPNMBENSG00000136235ENST00000381990p.S442Rc.1326C>GSubstitution - Missense
HOXA3ENSG00000105997ENST00000396352p.A310fs*66c.927delCDeletion - Frameshift
CARD11ENSG00000198286ENST00000396946p.R818Gc.2452C>GSubstitution - Missense
CRHR2ENSG00000106113ENST00000471646p.A390Vc.1169C>TSubstitution - Missense
FAM188BENSG00000106125ENST00000265299p.N360fs*7c.1074_1075insAInsertion - Frameshift
CD36ENSG00000135218ENST00000435819p.F135Lc.403T>CSubstitution - Missense
SEMA3CENSG00000075223ENST00000544525p.V258Vc.774G>ASubstitution - coding silent
DMTF1ENSG00000135164ENST00000394703p.?c.109+9A>GUnknown
PCLOENSG00000186472ENST00000333891p.P735Hc.2204C>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.P735Hc.2204C>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.P681Hc.2042C>ASubstitution - Missense
ZNF804BENSG00000182348ENST00000333190p.A976Tc.2926G>ASubstitution - Missense
ABCB1ENSG00000085563ENST00000265724p.D26fs*43c.75delADeletion - Frameshift
F8ENSG00000185010ENST00000360256p.V1307Ac.3920T>CSubstitution - Missense
F8ENSG00000185010ENST00000360256p.V1307Ac.3920T>CSubstitution - Missense
CTPS2ENSG00000047230ENST00000443824p.A47Ac.141T>GSubstitution - coding silent
CTPS2ENSG00000047230ENST00000443824p.M1Tc.2T>CSubstitution - Missense
SCML2ENSG00000102098ENST00000251900p.T335Ac.1003A>GSubstitution - Missense
NM_173495.1p.K530fs*8c.1585delADeletion - Frameshift
ADH6ENSG00000172955ENST00000394899p.F181Vc.541T>GSubstitution - Missense
ADH6ENSG00000172955ENST00000237653p.F181Vc.541T>GSubstitution - Missense
NFKB1ENSG00000109320ENST00000226574p.?c.2749+3delaUnknown
WDR1ENSG00000071127ENST00000499869p.?c.17-4G>AUnknown
ENST00000400001p.?c.17-4G>AUnknown
LEF1ENSG00000138795ENST00000379951p.Y335Yc.1005T>CSubstitution - coding silent
FRAS1ENSG00000138759ENST00000264895p.R3839Rc.11517G>TSubstitution - coding silent
FRAS1ENSG00000138759ENST00000264895p.R3839Rc.11517G>TSubstitution - coding silent
GAKENSG00000178950ENST00000314167p.R497Qc.1490G>ASubstitution - Missense
WDFY3ENSG00000163625ENST00000295888p.N3206Nc.9618C>TSubstitution - coding silent
WDFY3ENSG00000163625ENST00000295888p.S1229Cc.3685A>TSubstitution - Missense
WDFY3ENSG00000163625ENST00000295888p.H1228Qc.3684C>ASubstitution - Missense
GPRIN3ENSG00000185477ENST00000333209p.A651Ac.1953A>GSubstitution - coding silent
TACC1ENSG00000147526ENST00000379931p.?c.1392-10G>AUnknown
PRKDCENSG00000253729ENST00000314191p.L760Pc.2279T>CSubstitution - Missense
POMKENSG00000185900ENST00000331373p.C244Yc.731G>ASubstitution - Missense
ANK1ENSG00000029534ENST00000347528p.A190Ac.570G>ASubstitution - coding silent
RPGRENSG00000156313ENST00000318842p.S47Sc.141T>GSubstitution - coding silent
DDX3XENSG00000215301ENST00000399959p.S492fs*4c.1470delADeletion - Frameshift
ZNF81ENSG00000197779ENST00000376954p.R375Gc.1123A>GSubstitution - Missense
NM_021140.1p.V1268Vc.3804A>GSubstitution - coding silent
GRIPAP1ENSG00000068400ENST00000376441p.R601Rc.1803G>ASubstitution - coding silent
NM_020137p.R244Rc.732G>ASubstitution - coding silent
SLC35A2ENSG00000102100ENST00000247138p.?c.274+2T>CUnknown
SLC35A2ENSG00000102100ENST00000376529p.?c.274+2T>CUnknown
ISOC2ENSG00000063241ENST00000085068p.R43Cc.127C>TSubstitution - Missense
ZNF628ENSG00000197483ENST00000391718p.K151Tc.452A>CSubstitution - Missense
ZNF628ENSG00000197483ENST00000391718p.K151Tc.452A>CSubstitution - Missense
ZFP28ENSG00000196867ENST00000301318p.C678Cc.2034C>TSubstitution - coding silent
BSGENSG00000172270ENST00000333511p.Y201Cc.602A>GSubstitution - Missense
BSGENSG00000172270ENST00000346916p.Y21Cc.62A>GSubstitution - Missense
ZNF749ENSG00000186230ENST00000334181p.R622Kc.1865G>ASubstitution - Missense
USP29ENSG00000131864ENST00000254181p.Y878Hc.2632T>CSubstitution - Missense
ZSCAN4ENSG00000180532ENST00000318203p.K310fs*19c.926delADeletion - Frameshift
ZSCAN1ENSG00000152467ENST00000282326p.Q22Kc.64C>ASubstitution - Missense
GLOD4ENSG00000167699ENST00000301329p.G188Gc.564C>TSubstitution - coding silent
MAP2K6ENSG00000108984ENST00000359094p.G76Rc.226G>ASubstitution - Missense
ABCA9ENSG00000154258ENST00000340001p.G276Gc.828C>ASubstitution - coding silent
CD300CENSG00000167850ENST00000330793p.A13Ac.39T>CSubstitution - coding silent
KIF19ENSG00000196169ENST00000389916p.A720Tc.2158G>ASubstitution - Missense
YBX2ENSG00000006047ENST00000007699p.?c.335+6C>TUnknown
NOL10ENSG00000115761ENST00000345985p.V3Fc.7G>TSubstitution - Missense
RGPD3ENSG00000153165ENST00000409886p.T1115Tc.3345G>ASubstitution - coding silent
RGPD3ENSG00000153165ENST00000409886p.T1115Tc.3345G>ASubstitution - coding silent
MRPS9ENSG00000135972ENST00000258455p.T33Ac.97A>GSubstitution - Missense
GPR45ENSG00000135973ENST00000258456p.A64Vc.191C>TSubstitution - Missense
RBMS3ENSG00000144642ENST00000383767p.P269Pc.807G>ASubstitution - coding silent
RBMS3ENSG00000144642ENST00000383767p.R276Rc.828C>TSubstitution - coding silent
SUMF1ENSG00000144455ENST00000534863p.C411Cc.1233T>CSubstitution - coding silent
SCN10AENSG00000185313ENST00000449082p.R1576Hc.4727G>ASubstitution - Missense
CTNNB1ENSG00000168036ENST00000349496p.P521Pc.1563C>TSubstitution - coding silent
TTC21AENSG00000168026ENST00000431162p.Q618Hc.1854G>TSubstitution - Missense
ZNF705AENSG00000196946ENST00000402465p.C246Yc.737G>ASubstitution - Missense
ENSG00000219492ENST00000508324p.C174Yc.521G>ASubstitution - Missense
SLCO4C1ENSG00000173930ENST00000310954p.?c.1812-4C>AUnknown
APCENSG00000134982ENST00000457016p.T1218Ac.3652A>GSubstitution - Missense
EPB41L4AENSG00000129595ENST00000261486p.?c.1933-9A>TUnknown
CES2ENSG00000172831ENST00000317091p.A321Sc.961G>TSubstitution - Missense
LCATENSG00000213398ENST00000264005p.R268Hc.803G>ASubstitution - Missense
RLTPRENSG00000159753ENST00000334583p.R866Wc.2596C>TSubstitution - Missense
RLTPRENSG00000159753ENST00000334583p.R906Wc.2716C>TSubstitution - Missense
RLTPRENSG00000159753ENST00000334583p.G1059Gc.3177C>TSubstitution - coding silent
PCYOX1ENSG00000116005ENST00000433351p.T346Tc.1038T>GSubstitution - coding silent
PLA2G15ENSG00000103066ENST00000219345p.Q378Hc.1134G>TSubstitution - Missense
DPYSL5ENSG00000157851ENST00000288699p.N4Ic.11A>TSubstitution - Missense
OTOFENSG00000115155ENST00000272371p.P659Lc.1976C>TSubstitution - Missense
ASXL2ENSG00000143970ENST00000272341p.S875Sc.2625C>TSubstitution - coding silent
UNC50ENSG00000115446ENST00000357765p.F178fs*7c.527delTDeletion - Frameshift
ZAP70ENSG00000115085ENST00000264972p.T300Mc.899C>TSubstitution - Missense
EMILIN1ENSG00000138080ENST00000380320p.G540Sc.1618G>ASubstitution - Missense
IMPG2ENSG00000081148ENST00000193391p.V880Vc.2640G>TSubstitution - coding silent
ABI3BPENSG00000154175ENST00000471714p.P686Pc.2058T>ASubstitution - coding silent
TOMM70AENSG00000154174ENST00000284320p.K536Nc.1608G>TSubstitution - Missense
TAF1BENSG00000115750ENST00000263663p.N123Dc.367A>GSubstitution - Missense
ZBTB11ENSG00000066422ENST00000312938p.K172fs*18c.515delADeletion - Frameshift
TGFB1I1ENSG00000140682ENST00000394858p.C388Cc.1164C>TSubstitution - coding silent
PRSS8ENSG00000052344ENST00000317508p.Q42fs*64c.124delCDeletion - Frameshift
DNASE1ENSG00000213918ENST00000246949p.Y119Yc.357C>TSubstitution - coding silent
CREBBPENSG00000005339ENST00000262367p.Q1896Qc.5688G>ASubstitution - coding silent
CLUAP1ENSG00000103351ENST00000576634p.A70Vc.209C>TSubstitution - Missense
NMRAL1ENSG00000153406ENST00000283429p.V78Mc.232G>ASubstitution - Missense
CREBBPENSG00000005339ENST00000262367p.I1084fs*3c.3250_3250+1insAUnknown
CREBBPENSG00000005339ENST00000262367p.I1084fs*3c.3243_3244insAInsertion - Frameshift
IRF8ENSG00000140968ENST00000268638p.R419fs*>9c.1248_1249insTInsertion - Frameshift
NETO2ENSG00000171208ENST00000562435p.K376fs*28c.1127delADeletion - Frameshift
TMEM186ENSG00000184857ENST00000333050p.L117Mc.349C>ASubstitution - Missense
PIEZO1ENSG00000103335ENST00000301015p.R1876Rc.5626A>CSubstitution - coding silent
ZNF534ENSG00000198633ENST00000332323p.G28Gc.84G>ASubstitution - coding silent
ZNF534ENSG00000198633ENST00000301085p.G28Gc.84G>ASubstitution - coding silent
ENSG00000268500ENST00000429354p.G106Rc.316G>ASubstitution - Missense
NLRP12ENSG00000142405ENST00000345770p.V731fs*1c.2191delGDeletion - Frameshift
ZNF331ENSG00000130844ENST00000253144p.N61fs*5c.176delADeletion - Frameshift
ZNF665ENSG00000197497ENST00000396424p.K475Nc.1425A>CSubstitution - Missense
ADRM1ENSG00000130706ENST00000253003p.?c.856+5C>TUnknown
DIDO1ENSG00000101191ENST00000395343p.P1908fs*111c.5723delCDeletion - Frameshift
SOX18ENSG00000203883ENST00000340356p.K160Kc.480G>ASubstitution - coding silent
UCKL1ENSG00000198276ENST00000354216p.V413Mc.1237G>ASubstitution - Missense
PRPF6ENSG00000101161ENST00000266079p.P51fs*10c.148delCDeletion - Frameshift
ZBTB46ENSG00000130584ENST00000245663p.P169Lc.506C>TSubstitution - Missense
NRIP1ENSG00000180530ENST00000400199p.S444Fc.1331C>TSubstitution - Missense
NRIP1ENSG00000180530ENST00000400199p.R250fs*17c.748delADeletion - Frameshift
MTMR3ENSG00000100330ENST00000401950p.V231Ac.692T>CSubstitution - Missense
EWSR1ENSG00000182944ENST00000414183p.?c.993-2A>GUnknown
PISDENSG00000241878ENST00000382151p.A352Tc.1054G>ASubstitution - Missense
EIF4ENIF1ENSG00000184708ENST00000397525p.P63Tc.187C>ASubstitution - Missense
ENST00000404496p.Q394Rc.1181A>GSubstitution - Missense
SEC14L6ENSG00000214491ENST00000402034p.N84Nc.252C>TSubstitution - coding silent
MCM5ENSG00000100297ENST00000216122p.M144Tc.431T>CSubstitution - Missense
RASD2ENSG00000100302ENST00000216127p.Q113Ec.337C>GSubstitution - Missense
TOM1ENSG00000100284ENST00000449058p.E270Gc.809A>GSubstitution - Missense
FOSL2ENSG00000075426ENST00000264716p.R243Hc.728G>ASubstitution - Missense
SLC4A1APENSG00000163798ENST00000326019p.A426Tc.1276G>ASubstitution - Missense
EIF2B4ENSG00000115211ENST00000451130p.R364Qc.1091G>ASubstitution - Missense
EIF2B4ENSG00000115211ENST00000347454p.R344Qc.1031G>ASubstitution - Missense
SLC30A6ENSG00000152683ENST00000282587p.S168Sc.504T>CSubstitution - coding silent
CAPN13ENSG00000162949ENST00000295055p.A280Vc.839C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P5339Pc.16017C>TSubstitution - coding silent
ENST00000405167p.P5211Pc.15633C>TSubstitution - coding silent
RNASEH1ENSG00000171865ENST00000315212p.A125Ac.375G>ASubstitution - coding silent
KCNH8ENSG00000183960ENST00000328405p.H1015Qc.3045T>GSubstitution - Missense
ENST00000405167p.V935Ic.2803G>ASubstitution - Missense
DLG1ENSG00000075711ENST00000346964p.R271Wc.811C>TSubstitution - Missense
DLG1ENSG00000075711ENST00000419354p.R271Wc.811C>TSubstitution - Missense
UBXN7ENSG00000163960ENST00000296328p.S326Gc.976A>GSubstitution - Missense
UBXN7ENSG00000163960ENST00000296328p.F20Lc.58T>CSubstitution - Missense
MINAENSG00000170854ENST00000360258p.G289Gc.867C>TSubstitution - coding silent
AZI2ENSG00000163512ENST00000479665p.N374Tc.1121A>CSubstitution - Missense
NM_000670.3p.N84Dc.250A>GSubstitution - Missense
SLC25A13ENSG00000004864ENST00000265631p.?c.328+7A>GUnknown
PPP1R9AENSG00000158528ENST00000433360p.R899Rc.2697C>ASubstitution - coding silent
RHPN1ENSG00000158106ENST00000289013p.S269Sc.807C>TSubstitution - coding silent
RHPN1ENSG00000158106ENST00000289013p.S269Sc.807C>TSubstitution - coding silent
RHPN1ENSG00000158106ENST00000289013p.R428Rc.1284C>TSubstitution - coding silent
EPPK1ENSG00000227184ENST00000525985p.V2359Mc.7075G>ASubstitution - Missense
SCRIBENSG00000180900ENST00000356994p.T553Ac.1657A>GSubstitution - Missense
GSDMDENSG00000104518ENST00000262580p.Q101Rc.302A>GSubstitution - Missense
MROH6ENSG00000204839ENST00000398882p.R377Cc.1129C>TSubstitution - Missense
MROH6ENSG00000204839ENST00000398882p.R377Cc.1129C>TSubstitution - Missense
ENST00000360660p.H870fs*92c.2601_2602insCInsertion - Frameshift
FOXH1ENSG00000160973ENST00000377317p.A186Sc.556G>TSubstitution - Missense
PSD3ENSG00000156011ENST00000327040p.R182fs*20c.546_547delAGDeletion - Frameshift
PSD3ENSG00000156011ENST00000327040p.K959Rc.2876A>GSubstitution - Missense
SLC7A2ENSG00000003989ENST00000494857p.?c.833-4T>AUnknown
JPH1ENSG00000104369ENST00000342232p.E85fs*28c.253_254insGInsertion - Frameshift
KCNB2ENSG00000182674ENST00000523207p.E813Gc.2438A>GSubstitution - Missense
TERF1ENSG00000147601ENST00000276603p.E164Ec.492A>GSubstitution - coding silent
ZFHX4ENSG00000091656ENST00000521891p.T467Tc.1401T>CSubstitution - coding silent
MYO5BENSG00000167306ENST00000285039p.?c.2572-7C>TUnknown
LOXHD1ENSG00000167210ENST00000536736p.K424fs*13c.1270delADeletion - Frameshift
LOXHD1ENSG00000167210ENST00000398722p.K146fs*13c.436delADeletion - Frameshift
LOXHD1ENSG00000167210ENST00000398722p.R1284Cc.3850C>TSubstitution - Missense
LOXHD1ENSG00000167210ENST00000536736p.E954Gc.2861A>GSubstitution - Missense
ME2ENSG00000082212ENST00000321341p.G446Gc.1338C>TSubstitution - coding silent
SMAD4ENSG00000141646ENST00000342988p.L54Fc.162G>TSubstitution - Missense
NEDD4LENSG00000049759ENST00000400345p.N216Nc.648C>TSubstitution - coding silent
ENST00000262719_v68p.R839*c.2515C>TSubstitution - Nonsense
PHLPP1ENSG00000081913ENST00000400316p.R326*c.976C>TSubstitution - Nonsense
KRBA2ENSG00000184619ENST00000331336p.R366Sc.1096C>ASubstitution - Missense
ANKRD62ENSG00000181626ENST00000314074p.Y130Yc.390T>CSubstitution - coding silent
GAS7ENSG00000007237ENST00000580865p.T264Ac.790A>GSubstitution - Missense
MFSD6LENSG00000185156ENST00000329805p.R26Wc.76C>TSubstitution - Missense
ANKRD30BENSG00000180777ENST00000447268p.V89Vc.267A>TSubstitution - coding silent
NLRP7ENSG00000167634ENST00000328092p.G967Sc.2899G>ASubstitution - Missense
NLRP7ENSG00000167634ENST00000448121p.G939Sc.2815G>ASubstitution - Missense
NINLENSG00000101004ENST00000278886p.Q1167Rc.3500A>GSubstitution - Missense
ENTPD6ENSG00000197586ENST00000376652p.R264Hc.791G>ASubstitution - Missense
NLRP7ENSG00000167634ENST00000328092p.A87Vc.260C>TSubstitution - Missense
NLRP7ENSG00000167634ENST00000448121p.A87Vc.260C>TSubstitution - Missense
TTLL9ENSG00000131044ENST00000375938p.N159fs*8c.472delADeletion - Frameshift
SEPT5ENSG00000184702ENST00000455784p.N183Sc.548A>GSubstitution - Missense
ENSG00000161103ENST00000342005p.E233Kc.697G>ASubstitution - Missense
MICAL3ENSG00000243156ENST00000441493p.S1586Sc.4758C>TSubstitution - coding silent
TRMT2AENSG00000099899ENST00000252136p.?c.1647-5delcUnknown
PDK1ENSG00000152256ENST00000282077p.A349Tc.1045G>ASubstitution - Missense
HOXD12ENSG00000170178ENST00000406506p.A197fs*43c.584delGDeletion - Frameshift
PLEKHA3ENSG00000116095ENST00000234453p.R121Hc.362G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.R24773Qc.74318G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.R18401Qc.55202G>ASubstitution - Missense
ENST00000356127p.R24771Qc.74312G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.R18468Qc.55403G>ASubstitution - Missense
NM_003319p.I9781Fc.29341A>TSubstitution - Missense
DNAH7ENSG00000118997ENST00000312428p.L491Pc.1472T>CSubstitution - Missense
BZW1ENSG00000082153ENST00000452790p.N317fs*54c.950_951insAInsertion - Frameshift
ENST00000353957p.N285fs*18c.854_855insAInsertion - Frameshift
ALS2ENSG00000003393ENST00000264276p.T994Ac.2980A>GSubstitution - Missense
ALS2CR11ENSG00000155754ENST00000439140p.K1431*c.4291A>TSubstitution - Nonsense
FAM126BENSG00000155744ENST00000418596p.?c.334-9T>CUnknown
HDLBPENSG00000115677ENST00000391975p.K565fs*89c.1695delADeletion - Frameshift
C2orf54ENSG00000172478ENST00000388934p.A320Ac.960C>TSubstitution - coding silent
KIF1AENSG00000130294ENST00000320389p.T1589Mc.4766C>TSubstitution - Missense
KIF1AENSG00000130294ENST00000320389p.G484Gc.1452C>TSubstitution - coding silent
KIF3CENSG00000084731ENST00000264712p.A452Pc.1354G>CSubstitution - Missense
PRKCSHENSG00000130175ENST00000252455p.T67Tc.201G>ASubstitution - coding silent
RGL3ENSG00000205517ENST00000380456p.E253Kc.757G>ASubstitution - Missense
ZNF563ENSG00000188868ENST00000293725p.Y253Hc.757T>CSubstitution - Missense
GADD45GIP1ENSG00000179271ENST00000316939p.V210Ac.629T>CSubstitution - Missense
RIPK4ENSG00000183421ENST00000352483p.A510Ac.1530C>TSubstitution - coding silent
DSCAMENSG00000171587ENST00000400454p.Q600Qc.1800A>GSubstitution - coding silent
DSCAMENSG00000171587ENST00000400454p.Q1481Qc.4443G>ASubstitution - coding silent
CCDC130ENSG00000104957ENST00000221554p.P257Pc.771C>TSubstitution - coding silent
C21orf128ENSG00000184385ENST00000329015p.G159Rc.475G>ASubstitution - Missense
ENST00000329015_v68p.G159Rc.475G>ASubstitution - Missense
C21orf67ENSG00000183250ENST00000397841p.A162Vc.485C>TSubstitution - Missense
RGPD1ENSG00000187627ENST00000398193p.Y11Hc.31T>CSubstitution - Missense
ENST00000398193_v68p.Y11Hc.31T>CSubstitution - Missense
PTCD3ENSG00000132300ENST00000254630p.Q233Hc.699G>CSubstitution - Missense
NCAPHENSG00000121152ENST00000240423p.T79Tc.237T>CSubstitution - coding silent
SEMA4CENSG00000168758ENST00000305476p.S453Gc.1357A>GSubstitution - Missense
ROBO1ENSG00000169855ENST00000495273p.?c.3347-3T>AUnknown
NM_032217.3p.A1456Tc.4366G>ASubstitution - Missense
PARM1ENSG00000169116ENST00000307428p.T23Ac.67A>GSubstitution - Missense
PARM1ENSG00000169116ENST00000307428p.T23Ac.67A>GSubstitution - Missense
PHKBENSG00000102893ENST00000323584p.A847Ac.2541G>ASubstitution - coding silent
PHKBENSG00000102893ENST00000323584p.A847Ac.2541G>ASubstitution - coding silent
PHKBENSG00000102893ENST00000566044p.A840Ac.2520G>ASubstitution - coding silent
CCDC158ENSG00000163749ENST00000388914p.R800Hc.2399G>ASubstitution - Missense
LONP2ENSG00000102910ENST00000285737p.D162Ec.486T>ASubstitution - Missense
IRX5ENSG00000176842ENST00000394636p.D471Gc.1412A>GSubstitution - Missense
RBL2ENSG00000103479ENST00000262133p.?c.3249+3G>AUnknown
TOX3ENSG00000103460ENST00000407228p.G420Dc.1259G>ASubstitution - Missense
MT1EENSG00000169715ENST00000330439p.C34Cc.102C>TSubstitution - coding silent
PLXDC1ENSG00000161381ENST00000315392p.T381Ac.1141A>GSubstitution - Missense
KRTAP4-6ENSG00000198090ENST00000345847p.R116Hc.347G>ASubstitution - Missense
KRT20ENSG00000171431ENST00000167588p.Q137*c.409C>TSubstitution - Nonsense
KRTAP23-1ENSG00000186980ENST00000334160p.R26Rc.78T>CSubstitution - coding silent
MAP3K7CLENSG00000156265ENST00000399935p.A16Tc.46G>ASubstitution - Missense
ITSN1ENSG00000205726ENST00000381318p.R445Qc.1334G>ASubstitution - Missense
HUNKENSG00000142149ENST00000270112p.R451Qc.1352G>ASubstitution - Missense
CHAF1BENSG00000159259ENST00000314103p.T531Mc.1592C>TSubstitution - Missense
DOK7ENSG00000175920ENST00000389653p.Q460fs*78c.1373delCDeletion - Frameshift
RGS12ENSG00000159788ENST00000344733p.A1126Gc.3377C>GSubstitution - Missense
ENST00000341755p.P144Pc.432G>ASubstitution - coding silent
PHOX2BENSG00000109132ENST00000226382p.A108Tc.322G>ASubstitution - Missense
N4BP2ENSG00000078177ENST00000261435p.D1621Gc.4862A>GSubstitution - Missense
KLBENSG00000134962ENST00000257408p.A367Tc.1099G>ASubstitution - Missense
ATP8A1ENSG00000124406ENST00000381668p.L414Lc.1242G>ASubstitution - coding silent
APEHENSG00000164062ENST00000296456p.?c.1523-1delgUnknown
DOCK3ENSG00000088538ENST00000266037p.P1852fs*45c.5549delCDeletion - Frameshift
ENST00000366809p.W1611Cc.4833G>TSubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.R3546*c.10636C>TSubstitution - Nonsense
WDR27ENSG00000184465ENST00000333572p.P196Lc.587C>TSubstitution - Missense
WDR27ENSG00000184465ENST00000333572p.P196Lc.587C>TSubstitution - Missense
ALDH5A1ENSG00000112294ENST00000348925p.G504Dc.1511G>ASubstitution - Missense
GMDSENSG00000112699ENST00000380815p.T62Mc.185C>TSubstitution - Missense
DEKENSG00000124795ENST00000397239p.S276fs*8c.819_820insAInsertion - Frameshift
BTN3A1ENSG00000026950ENST00000289361p.N77Nc.231C>TSubstitution - coding silent
HIST1H4GENSG00000124578ENST00000244537p.A77Tc.229G>ASubstitution - Missense
HIST1H1DENSG00000124575ENST00000244534p.K177fs*2c.530delADeletion - Frameshift
HIST1H2BCENSG00000180596ENST00000396984p.R100Rc.300C>TSubstitution - coding silent
PTNENSG00000105894ENST00000348225p.V56fs*19c.167_168delTGDeletion - Frameshift
PARP12ENSG00000059378ENST00000263549p.E270Kc.808G>ASubstitution - Missense
MGAMENSG00000257335ENST00000549489p.A402Tc.1204G>ASubstitution - Missense
DENND2AENSG00000146966ENST00000275884p.?c.2038-9C>AUnknown
ERVW-1ENSG00000242950ENST00000493463p.A429Ac.1287A>GSubstitution - coding silent
BRI3ENSG00000164713ENST00000297290p.V56Ic.166G>ASubstitution - Missense
NM_014916p.D933Gc.2798A>GSubstitution - Missense
DLGAP4ENSG00000080845ENST00000373913p.G216Sc.646G>ASubstitution - Missense
TTI1ENSG00000101407ENST00000373448p.L767*c.2300T>ASubstitution - Nonsense
TTI1ENSG00000101407ENST00000373448p.A523Dc.1568C>ASubstitution - Missense
RBL1ENSG00000080839ENST00000373664p.L144fs*1c.431delTDeletion - Frameshift
FAM65CENSG00000042062ENST00000327979p.S2Pc.4T>CSubstitution - Missense
TUBB1ENSG00000101162ENST00000217133p.Q279Qc.837G>ASubstitution - coding silent
PTPRZ1ENSG00000106278ENST00000393386p.D436Nc.1306G>ASubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.A595Vc.1784C>TSubstitution - Missense
LSM14BENSG00000149657ENST00000279068p.Y9Nc.25T>ASubstitution - Missense
LSM14BENSG00000149657ENST00000279068p.Y9Nc.25T>ASubstitution - Missense
CDH4ENSG00000179242ENST00000360469p.S125Wc.374C>GSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.G873fs*32c.2618delGDeletion - Frameshift
PLXNA4ENSG00000221866ENST00000321063p.Q1527Qc.4581G>ASubstitution - coding silent
PLXNA4ENSG00000221866ENST00000321063p.Q1527Qc.4581G>ASubstitution - coding silent
TNPO3ENSG00000064419ENST00000393245p.Y882fs*25c.2643delCDeletion - Frameshift
EXOC4ENSG00000131558ENST00000253861p.N439Kc.1317T>ASubstitution - Missense
ANKRD18BENSG00000230453ENST00000290943p.K330delKc.985_987delAAGDeletion - In frame
SPAG8ENSG00000137098ENST00000396638p.L93Pc.278T>CSubstitution - Missense
FAM214BENSG00000005238ENST00000378557p.S335fs*19c.995_996insCInsertion - Frameshift
C9orf131ENSG00000174038ENST00000312292p.T1002Tc.3006T>CSubstitution - coding silent
CNTNAP3ENSG00000106714ENST00000297668p.I731Tc.2192T>CSubstitution - Missense
ANKRD18AENSG00000180071ENST00000399703p.K409Kc.1227A>GSubstitution - coding silent
ITIH1ENSG00000055957ENST00000273283p.P7Hc.20C>ASubstitution - Missense
FLNBENSG00000136068ENST00000295956p.H532fs*9c.1592_1593insGInsertion - Frameshift
PRICKLE2ENSG00000163637ENST00000295902p.A38Dc.113C>ASubstitution - Missense
SH2D4AENSG00000104611ENST00000265807p.E217delEc.642_644delAGADeletion - In frame
MITFENSG00000187098ENST00000394351p.?c.441+6G>CUnknown
TMF1ENSG00000144747ENST00000398559p.S102Sc.306G>ASubstitution - coding silent
HRENSG00000168453ENST00000381418p.H557fs*129c.1667_1668insAInsertion - Frameshift
ENTPD4ENSG00000197217ENST00000358689p.G430Gc.1290C>ASubstitution - coding silent
ENST00000318252p.P2652Pc.7956G>ASubstitution - coding silent
CSMD1ENSG00000183117ENST00000537824p.Y3480Sc.10439A>CSubstitution - Missense
DCAF4L2ENSG00000176566ENST00000319675p.L238Fc.714G>TSubstitution - Missense
KCNS2ENSG00000156486ENST00000287042p.N111Dc.331A>GSubstitution - Missense
INTS8ENSG00000164941ENST00000523731p.I501Vc.1501A>GSubstitution - Missense
DPY19L4ENSG00000156162ENST00000414645p.T361Ic.1082C>TSubstitution - Missense
WSCD1ENSG00000179314ENST00000317744p.L33Lc.97C>TSubstitution - coding silent
BRIP1ENSG00000136492ENST00000259008p.S128Pc.382T>CSubstitution - Missense
RGS9ENSG00000108370ENST00000262406p.N271Kc.813C>ASubstitution - Missense
GNA13ENSG00000120063ENST00000439174p.I366Nc.1097T>ASubstitution - Missense
GNA13ENSG00000120063ENST00000439174p.I287Tc.860T>CSubstitution - Missense
MAP3K3ENSG00000198909ENST00000361733p.R24Wc.70C>TSubstitution - Missense
CACNG5ENSG00000075429ENST00000169565p.V150Gc.449T>GSubstitution - Missense
CACNG5ENSG00000075429ENST00000533854p.V150Gc.449T>GSubstitution - Missense
AKAP10ENSG00000108599ENST00000225737p.I306Mc.918A>GSubstitution - Missense
MAPK7ENSG00000166484ENST00000308406p.F365Fc.1095T>CSubstitution - coding silent
DPH1ENSG00000108963ENST00000263083p.?c.230-9G>AUnknown
CLUHENSG00000132361ENST00000435359p.H1115Hc.3345C>TSubstitution - coding silent
SU_KSR1p.R263Pc.788G>CSubstitution - Missense
KCNJ12ENSG00000184185ENST00000331718p.V265Vc.795G>ASubstitution - coding silent
FAM222BENSG00000173065ENST00000452648p.P240Pc.720G>ASubstitution - coding silent
XM_043272.9p.G694Gc.2082G>ASubstitution - coding silent
KCNAB3ENSG00000170049ENST00000303790p.R299*c.895C>TSubstitution - Nonsense
ALOX12BENSG00000179477ENST00000319144p.Y266Sc.797A>CSubstitution - Missense
TMEM105ENSG00000185332ENST00000332900p.R122Qc.365G>ASubstitution - Missense
P4HBENSG00000185624ENST00000331483p.R461Hc.1382G>ASubstitution - Missense
NPC1ENSG00000141458ENST00000269228p.A321Ac.963G>ASubstitution - coding silent
SLC16A3ENSG00000141526ENST00000392341p.A315Ac.945G>ASubstitution - coding silent
B4GALT6ENSG00000118276ENST00000306851p.V229Ac.686T>CSubstitution - Missense
CDC37ENSG00000105401ENST00000222005p.L190Pc.569T>CSubstitution - Missense
CELF4ENSG00000101489ENST00000361795p.A263Tc.787G>ASubstitution - Missense
SMARCA4ENSG00000127616ENST00000358026p.R1461Hc.4382G>ASubstitution - Missense
HMHA1ENSG00000180448ENST00000313093p.T506Tc.1518G>ASubstitution - coding silent
SLC44A2ENSG00000129353ENST00000335757p.N449Sc.1346A>GSubstitution - Missense
ADAM23ENSG00000114948ENST00000264377p.E183Kc.547G>ASubstitution - Missense
ADAM23ENSG00000114948ENST00000374416p.E183Kc.547G>ASubstitution - Missense
TDRD15ENSG00000218819ENST00000405799p.R840fs*5c.2512_2513insAInsertion - Frameshift
PXDNLENSG00000147485ENST00000356297p.A704Tc.2110G>ASubstitution - Missense
PXDNLENSG00000147485ENST00000356297p.V610Lc.1828G>CSubstitution - Missense
SDR16C5ENSG00000170786ENST00000303749p.S18Sc.54A>GSubstitution - coding silent
SOX17ENSG00000164736ENST00000297316p.A394Dc.1181C>ASubstitution - Missense
CYP7B1ENSG00000172817ENST00000310193p.N206fs*7c.617delADeletion - Frameshift
ENST00000422365_v68p.?c.1074-7T>CUnknown
ENST00000409172p.I231Vc.691A>GSubstitution - Missense
ARHGAP6ENSG00000047648ENST00000337414p.R89fs*123c.264delCDeletion - Frameshift
ARHGAP6ENSG00000047648ENST00000380732p.R89fs*117c.264delCDeletion - Frameshift
THOC2ENSG00000125676ENST00000245838p.A1244Ac.3732T>ASubstitution - coding silent
OTTHUMT00000058153.1p.A1165Ac.3495T>ASubstitution - coding silent
RANBP3ENSG00000031823ENST00000340578p.A432Vc.1295C>TSubstitution - Missense
ENST00000215591p.E1194Ec.3582G>ASubstitution - coding silent
MAP2K7ENSG00000076984ENST00000397979p.D261Dc.783C>TSubstitution - coding silent
TRAPPC5ENSG00000181029ENST00000317378p.G62Gc.186C>TSubstitution - coding silent
CLEC4GENSG00000182566ENST00000328853p.R261Cc.781C>TSubstitution - Missense
CAMSAP3ENSG00000076826ENST00000446248p.R1067Qc.3200G>ASubstitution - Missense
PNPLA6ENSG00000032444ENST00000221249p.?c.1829+8T>AUnknown
INSRENSG00000171105ENST00000302850p.V1245Ac.3734T>CSubstitution - Missense
INSRENSG00000171105ENST00000302850p.V1245Ac.3734T>CSubstitution - Missense
ADAMTS10ENSG00000142303ENST00000270328p.E615Kc.1843G>ASubstitution - Missense
ADAMTS10ENSG00000142303ENST00000270328p.S447Lc.1340C>TSubstitution - Missense
FBN3ENSG00000142449ENST00000270509p.I1865Ic.5595T>CSubstitution - coding silent
TIMM44ENSG00000104980ENST00000270538p.R314Rc.942G>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.P11036Pc.33108T>GSubstitution - coding silent
ENST00000331986p.P6669Pc.20007T>GSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.S12935fs*13c.38803delADeletion - Frameshift
ENST00000380947p.S87fs*13c.259delADeletion - Frameshift
FAM120AENSG00000048828ENST00000277165p.S745Pc.2233T>CSubstitution - Missense
PTCH1ENSG00000185920ENST00000331920p.A521Vc.1562C>TSubstitution - Missense
PTCH1ENSG00000185920ENST00000375274p.A520Vc.1559C>TSubstitution - Missense
IL1RAPL2ENSG00000189108ENST00000372582p.M187Tc.560T>CSubstitution - Missense
H2BFMENSG00000101812ENST00000243297p.T117Tc.351A>GSubstitution - coding silent
XM_042978.4p.P936Ac.2806C>GSubstitution - Missense
COL4A5ENSG00000188153ENST00000361603p.P118Ac.352C>GSubstitution - Missense
MYOCDENSG00000141052ENST00000343344p.?c.55+6G>AUnknown
MED9ENSG00000141026ENST00000268711p.T103Ac.307A>GSubstitution - Missense
SMYD4ENSG00000186532ENST00000305513p.G734Wc.2200G>TSubstitution - Missense
UBE2OENSG00000175931ENST00000319380p.I701Tc.2102T>CSubstitution - Missense
UBE2OENSG00000175931ENST00000319380p.I701Tc.2102T>CSubstitution - Missense
DNAH2ENSG00000183914ENST00000389173p.M1586Lc.4756A>TSubstitution - Missense
ENST00000300671p.G2192Gc.6576C>TSubstitution - coding silent
ENST00000300671p.T3312Tc.9936G>ASubstitution - coding silent
ZNF729ENSG00000196350ENST00000357491p.R87Hc.260G>ASubstitution - Missense
DOT1LENSG00000104885ENST00000398665p.A528Vc.1583C>TSubstitution - Missense
TSHZ3ENSG00000121297ENST00000240587p.R915Wc.2743C>TSubstitution - Missense
NM_020856.1p.R732Wc.2194C>TSubstitution - Missense
ZNF536ENSG00000198597ENST00000355537p.P988Rc.2963C>GSubstitution - Missense
GNA11ENSG00000088256ENST00000078429p.A168Tc.502G>ASubstitution - Missense
ZNF536ENSG00000198597ENST00000355537p.M32Tc.95T>CSubstitution - Missense
PPAP2CENSG00000141934ENST00000327790p.V129Mc.385G>ASubstitution - Missense
ANKRD27ENSG00000105186ENST00000306065p.D140Dc.420T>CSubstitution - coding silent
SLC6A16ENSG00000063127ENST00000335875p.F105Yc.314T>ASubstitution - Missense
TRPM4ENSG00000130529ENST00000252826p.T21Tc.63G>ASubstitution - coding silent
UBA2ENSG00000126261ENST00000246548p.E495Ec.1485G>ASubstitution - coding silent
POLD1ENSG00000062822ENST00000440232p.R443Wc.1327C>TSubstitution - Missense
PNKPENSG00000039650ENST00000322344p.?c.578+3G>AUnknown
KLK13ENSG00000167759ENST00000156476p.G235*c.703G>TSubstitution - Nonsense
GPR32ENSG00000142511ENST00000270590p.I97Ic.291T>CSubstitution - coding silent
ACPTENSG00000142513ENST00000270593p.G314Gc.942C>TSubstitution - coding silent
ZNF341ENSG00000131061ENST00000342427p.R598Qc.1793G>ASubstitution - Missense
CCDC175ENSG00000151838ENST00000281581p.N632fs*8c.1895delADeletion - Frameshift
KTN1ENSG00000126777ENST00000416613p.K1197Nc.3591G>TSubstitution - Missense
EXOC5ENSG00000070367ENST00000413566p.I544Ic.1632T>CSubstitution - coding silent
PCNXL4ENSG00000126773ENST00000404681p.?c.655+1G>AUnknown
SYNE2ENSG00000054654ENST00000358025p.I3895Lc.11683A>CSubstitution - Missense
GPHB5ENSG00000179600ENST00000314140p.V22Ac.65T>CSubstitution - Missense
NM_006255p.L609Lc.1825T>CSubstitution - coding silent
PLEK2ENSG00000100558ENST00000216446p.R89*c.265C>TSubstitution - Nonsense
PPP1R36ENSG00000165807ENST00000298705p.F296Lc.886T>CSubstitution - Missense
PLEKHG3ENSG00000126822ENST00000247226p.Y178Cc.533A>GSubstitution - Missense
FOXN3ENSG00000053254ENST00000345097p.S432Sc.1296C>TSubstitution - coding silent
PTPN21ENSG00000070778ENST00000328736p.S399Nc.1196G>ASubstitution - Missense
UNC79ENSG00000133958ENST00000256339p.L1869Vc.5605C>GSubstitution - Missense
VPS13CENSG00000129003ENST00000395896p.L416Lc.1246T>CSubstitution - coding silent
VPS13CENSG00000129003ENST00000261517p.I1306Ic.3918C>TSubstitution - coding silent
VPS13CENSG00000129003ENST00000395896p.I1306Ic.3918C>TSubstitution - coding silent
ZNF609ENSG00000180357ENST00000326648p.T1049Ac.3145A>GSubstitution - Missense
DPP8ENSG00000074603ENST00000300141p.S500Sc.1500T>CSubstitution - coding silent
CILPENSG00000138615ENST00000261883p.R665Ic.1994G>TSubstitution - Missense
AK026345.1p.P130Pc.390C>TSubstitution - coding silent
DR1ENSG00000117505ENST00000370267p.A164Vc.491C>TSubstitution - Missense
TGFBR3ENSG00000069702ENST00000212355p.R510Qc.1529G>ASubstitution - Missense
HFM1ENSG00000162669ENST00000370425p.Y678Hc.2032T>CSubstitution - Missense
AGRNENSG00000188157ENST00000379370p.C602Cc.1806T>CSubstitution - coding silent
DPYDENSG00000188641ENST00000370192p.S811Pc.2431T>CSubstitution - Missense
DPYDENSG00000188641ENST00000370192p.F805Lc.2413T>CSubstitution - Missense
ISG15ENSG00000187608ENST00000379389p.E80Kc.238G>ASubstitution - Missense
ALG14ENSG00000172339ENST00000370205p.A78Vc.233C>TSubstitution - Missense
DYNC1H1ENSG00000197102ENST00000360184p.D3361Dc.10083C>TSubstitution - coding silent
ATP11AENSG00000068650ENST00000375645p.S1072Rc.3214A>CSubstitution - Missense
COL4A2ENSG00000134871ENST00000360467p.?c.315+9C>TUnknown
COL4A1ENSG00000187498ENST00000375820p.G764Gc.2292C>TSubstitution - coding silent
ENST00000456228p.L674Lc.2022G>ASubstitution - coding silent
FMN1ENSG00000248905ENST00000320930p.S235fs*19c.703_704delAGDeletion - Frameshift
PARP4ENSG00000102699ENST00000381989p.S1713Pc.5137T>CSubstitution - Missense
SACSENSG00000151835ENST00000382298p.S178Nc.533G>ASubstitution - Missense
NM_014363.3p.S31Nc.92G>ASubstitution - Missense
PPP1R14DENSG00000166143ENST00000427255p.P200Hc.599C>ASubstitution - Missense
DNAJC21ENSG00000168724ENST00000382021p.K330Nc.990G>TSubstitution - Missense
C5orf42ENSG00000197603ENST00000274258p.L1412Lc.4236A>GSubstitution - coding silent
C5orf42ENSG00000197603ENST00000425232p.S1581fs*20c.4741delTDeletion - Frameshift
C5orf42ENSG00000197603ENST00000425232p.L2532Lc.7596A>GSubstitution - coding silent
FA2HENSG00000103089ENST00000219368p.V98Vc.294A>GSubstitution - coding silent
OSGIN1ENSG00000140961ENST00000343939p.G212fs*11c.631delGDeletion - Frameshift
EFCAB13ENSG00000178852ENST00000331493p.K635fs*5c.1899delADeletion - Frameshift
KAT7ENSG00000136504ENST00000259021p.P607Pc.1821T>CSubstitution - coding silent
MINK1ENSG00000141503ENST00000347992p.R1213Rc.3639C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.N2936fs*25c.8807_8808insAInsertion - Frameshift
FBXL12ENSG00000127452ENST00000247977p.Q144Qc.432G>ASubstitution - coding silent
DZANK1ENSG00000089091ENST00000377630p.K282fs*5c.845delADeletion - Frameshift
RRBP1ENSG00000125844ENST00000377813p.G665Gc.1995C>TSubstitution - coding silent
PCSK2ENSG00000125851ENST00000262545p.T340Pc.1018A>CSubstitution - Missense
RALGAPA2ENSG00000188559ENST00000202677p.I270Tc.809T>CSubstitution - Missense
C20orf26ENSG00000089101ENST00000245957p.T843Sc.2527A>TSubstitution - Missense
DZANK1ENSG00000089091ENST00000262547p.K449fs*5c.1346delADeletion - Frameshift
ENST00000356127p.S6981Pc.20941T>CSubstitution - Missense
ENST00000356127p.V6772Ac.20315T>CSubstitution - Missense
SSFA2ENSG00000138434ENST00000431877p.Q781*c.2341C>TSubstitution - Nonsense
SSFA2ENSG00000138434ENST00000320370p.Q781*c.2341C>TSubstitution - Nonsense
COL5A2ENSG00000204262ENST00000374866p.G1484Dc.4451G>ASubstitution - Missense
MYO1BENSG00000128641ENST00000339514p.P288Sc.862C>TSubstitution - Missense
MYT1LENSG00000186487ENST00000399161p.S597Tc.1789T>ASubstitution - Missense
INO80DENSG00000114933ENST00000403263p.N638Tc.1913A>CSubstitution - Missense
PIKFYVEENSG00000115020ENST00000264380p.Q833Qc.2499G>ASubstitution - coding silent
NM_007170p.D255Dc.765T>CSubstitution - coding silent
SLC1A7ENSG00000162383ENST00000371494p.L246fs*13c.736delCDeletion - Frameshift
HEATR5AENSG00000129493ENST00000389961p.?c.5601+10T>CUnknown
ENST00000389961_v65p.R1758Kc.5273G>ASubstitution - Missense
ENST00000389961_v65p.G1425Sc.4273G>ASubstitution - Missense
HEATR5AENSG00000129493ENST00000389961p.G1425Sc.4273G>ASubstitution - Missense
C1orf177ENSG00000162398ENST00000358193p.R287fs*>129c.855_856insCInsertion - Frameshift
INSM2ENSG00000168348ENST00000307169p.L64Lc.192G>ASubstitution - coding silent
PTGER2ENSG00000125384ENST00000245457p.W186Gc.556T>GSubstitution - Missense
FRMD6ENSG00000139926ENST00000344768p.A416Tc.1246G>ASubstitution - Missense
TUBGCP5ENSG00000153575ENST00000283645p.V840Ac.2519T>CSubstitution - Missense
CYFIP1ENSG00000068793ENST00000313077p.D15Gc.44A>GSubstitution - Missense
SLC6A12ENSG00000111181ENST00000397296p.L403Pc.1208T>CSubstitution - Missense
CAPRIN2ENSG00000110888ENST00000251071p.?c.2815+10A>GUnknown
IVLENSG00000163207ENST00000368764p.L129Fc.385C>TSubstitution - Missense
LCE1EENSG00000186226ENST00000368771p.S110Sc.330C>TSubstitution - coding silent
FLG2ENSG00000143520ENST00000388718p.Q1008Qc.3024G>ASubstitution - coding silent
CLK2ENSG00000176444ENST00000361168p.R137Wc.409C>TSubstitution - Missense
IL6RENSG00000160712ENST00000368485p.P415Pc.1245G>ASubstitution - coding silent
PKLRENSG00000143627ENST00000342741p.N133Sc.398A>GSubstitution - Missense
PKP1ENSG00000081277ENST00000367324p.L367Pc.1100T>CSubstitution - Missense
MYBPHENSG00000133055ENST00000255416p.L299Mc.895C>ASubstitution - Missense
OTUD3ENSG00000169914ENST00000375120p.P112Pc.336C>ASubstitution - coding silent
TIMM17AENSG00000134375ENST00000367287p.R38Hc.113G>ASubstitution - Missense
MDM4ENSG00000198625ENST00000367179p.C24*c.72T>ASubstitution - Nonsense
ATP2B4ENSG00000058668ENST00000357681p.I996Vc.2986A>GSubstitution - Missense
SOX13ENSG00000143842ENST00000367204p.P302Pc.906C>GSubstitution - coding silent
ATP2B4ENSG00000058668ENST00000357681p.R599Hc.1796G>ASubstitution - Missense
SLC26A9ENSG00000174502ENST00000367134p.N153fs*5c.458_459insAInsertion - Frameshift
SLC26A9ENSG00000174502ENST00000367135p.N153fs*5c.456_457insAInsertion - Frameshift
PM20D1ENSG00000162877ENST00000367136p.R438Qc.1313G>ASubstitution - Missense
TMCC2ENSG00000133069ENST00000358024p.D311Dc.933C>TSubstitution - coding silent
TMCC2ENSG00000133069ENST00000330675p.D86Dc.258C>TSubstitution - coding silent
RSL24D1ENSG00000137876ENST00000260443p.R47Hc.140G>ASubstitution - Missense
MYO5AENSG00000197535ENST00000399231p.K405Kc.1215G>ASubstitution - coding silent
CCDC83ENSG00000150676ENST00000280245p.R278Hc.833G>ASubstitution - Missense
ENST00000257034p.D71Dc.213C>TSubstitution - coding silent
FAT3ENSG00000165323ENST00000298047p.R515Qc.1544G>ASubstitution - Missense
ENST00000298047_v61p.Y868Yc.2604C>TSubstitution - coding silent
FAT3ENSG00000165323ENST00000409404p.I187Vc.559A>GSubstitution - Missense
ENST00000298047_v61p.I187Vc.559A>GSubstitution - Missense
DENRENSG00000139726ENST00000280557p.?c.413-10A>TUnknown
NCOR2ENSG00000196498ENST00000405201p.A1092Tc.3274G>ASubstitution - Missense
EP400ENSG00000183495ENST00000389561p.A502Tc.1504G>ASubstitution - Missense
SFSWAPENSG00000061936ENST00000261674p.S923Sc.2769C>TSubstitution - coding silent
RIMBP2ENSG00000060709ENST00000261655p.R341Cc.1021C>TSubstitution - Missense
TMEM132DENSG00000151952ENST00000422113p.S255Sc.765T>CSubstitution - coding silent
PRAMEF4ENSG00000243073ENST00000235349p.R195Hc.584G>ASubstitution - Missense
OR14K1ENSG00000153230ENST00000283225p.A123Tc.367G>ASubstitution - Missense
MMEL1ENSG00000142606ENST00000288709p.D318Dc.954C>TSubstitution - coding silent
AIM1LENSG00000176092ENST00000527815p.P65Lc.194C>TSubstitution - Missense
UBXN11ENSG00000158062ENST00000374222p.L467Pc.1400T>CSubstitution - Missense
FGRENSG00000000938ENST00000374005p.L487Mc.1459C>ASubstitution - Missense
SLC9A1ENSG00000090020ENST00000263980p.P331Pc.993G>ASubstitution - coding silent
KANK4ENSG00000132854ENST00000371153p.G521Cc.1561G>TSubstitution - Missense
LEPRENSG00000116678ENST00000349533p.S54Sc.162A>GSubstitution - coding silent
LEPRENSG00000116678ENST00000344610p.S54Sc.162A>GSubstitution - coding silent
IL23RENSG00000162594ENST00000347310p.N58Sc.173A>GSubstitution - Missense
IL23RENSG00000162594ENST00000347310p.Y136Yc.408T>CSubstitution - coding silent
LRRC7ENSG00000033122ENST00000035383p.Y1443Cc.4328A>GSubstitution - Missense
MSH4ENSG00000057468ENST00000263187p.C545Cc.1635T>CSubstitution - coding silent
RPF1ENSG00000117133ENST00000370654p.I167Kc.500T>ASubstitution - Missense
UTS2ENSG00000049247ENST00000377516p.?c.103+2T>CUnknown
COL24A1ENSG00000171502ENST00000370571p.E1042Gc.3125A>GSubstitution - Missense
ZFYVE1ENSG00000165861ENST00000556143p.G15Gc.45G>ASubstitution - coding silent
RBM25ENSG00000119707ENST00000261973p.G645Gc.1935T>CSubstitution - coding silent
GPATCH2LENSG00000089916ENST00000312858p.I332Vc.994A>GSubstitution - Missense
FLVCR2ENSG00000119686ENST00000238667p.R83Cc.247C>TSubstitution - Missense
NR2F2ENSG00000185551ENST00000394166p.Y181Nc.541T>ASubstitution - Missense
IGF1RENSG00000140443ENST00000268035p.G1229Sc.3685G>ASubstitution - Missense
NR2F2ENSG00000185551ENST00000394166p.H306Rc.917A>GSubstitution - Missense
PARNENSG00000140694ENST00000437198p.R249Cc.745C>TSubstitution - Missense
ENST00000426033p.I2057Tc.6170T>CSubstitution - Missense
C16orf91ENSG00000174109ENST00000310355p.M112Ic.336G>TSubstitution - Missense
CHATENSG00000070748ENST00000337653p.R186Pc.557G>CSubstitution - Missense
FPR3ENSG00000187474ENST00000339223p.R307Hc.920G>ASubstitution - Missense
BICC1ENSG00000122870ENST00000373886p.?c.2221+10A>GUnknown
PRR26ENSG00000180525ENST00000381489p.E32Dc.96G>TSubstitution - Missense
OIT3ENSG00000138315ENST00000334011p.L94fs*1c.276delCDeletion - Frameshift
POLA2ENSG00000014138ENST00000265465p.P250Pc.750T>CSubstitution - coding silent
ZFPL1ENSG00000162300ENST00000294258p.?c.482-5C>TUnknown
CDCA8ENSG00000134690ENST00000373055p.T204Ac.610A>GSubstitution - Missense
EFEMP2ENSG00000172638ENST00000307998p.C188Cc.564C>TSubstitution - coding silent
SIPA1ENSG00000213445ENST00000394224p.L974Rc.2921T>GSubstitution - Missense
RELAENSG00000173039ENST00000406246p.E211Vc.632A>TSubstitution - Missense
HIVEP3ENSG00000127124ENST00000372583p.P2246Lc.6737C>TSubstitution - Missense
MFSD2AENSG00000168389ENST00000372811p.L244Lc.730C>TSubstitution - coding silent
RLFENSG00000117000ENST00000372771p.T300Mc.899C>TSubstitution - Missense
HIVEP3ENSG00000127124ENST00000372583p.P154Pc.462C>TSubstitution - coding silent
FOXJ3ENSG00000198815ENST00000372573p.P567fs*24c.1700delCDeletion - Frameshift
SLFNL1ENSG00000171790ENST00000359345p.A216Vc.647C>TSubstitution - Missense
KIF2CENSG00000142945ENST00000372224p.?c.439+1G>AUnknown
RBM19ENSG00000122965ENST00000392561p.D800Dc.2400C>TSubstitution - coding silent
ZSWIM5ENSG00000162415ENST00000359600p.A759Vc.2276C>TSubstitution - Missense
C1orf228ENSG00000198520ENST00000458657p.L17fs*46c.45delTDeletion - Frameshift
SRRM4ENSG00000139767ENST00000267260p.L252Pc.755T>CSubstitution - Missense
SU_KSR2p.T322fs*9c.963delGDeletion - Frameshift
VSIG10ENSG00000176834ENST00000359236p.P339fs*7c.1016delCDeletion - Frameshift
NOS1ENSG00000089250ENST00000317775p.P39Rc.116C>GSubstitution - Missense
PRB2ENSG00000121335ENST00000389362p.R150*c.448C>TSubstitution - Nonsense
CAMKK2ENSG00000110931ENST00000324774p.T350Tc.1050G>ASubstitution - coding silent
CAMKK2ENSG00000110931ENST00000392473p.T350Tc.1050G>ASubstitution - coding silent
C12orf43ENSG00000157895ENST00000288757p.D95Vc.284A>TSubstitution - Missense
PXNENSG00000089159ENST00000228307p.L149Lc.445C>TSubstitution - coding silent
PXNENSG00000089159ENST00000424649p.L149Lc.445C>TSubstitution - coding silent
PLA2G1BENSG00000170890ENST00000308366p.G55fs*>94c.164delGDeletion - Frameshift
DIABLOENSG00000184047ENST00000443649p.A167Ac.501A>TSubstitution - coding silent
IL31ENSG00000204671ENST00000377035p.V62Mc.184G>ASubstitution - Missense
NM_015906p.E1103Kc.3307G>ASubstitution - Missense
FAM46CENSG00000183508ENST00000369448p.A103Pc.307G>CSubstitution - Missense
C1orf137ENSG00000203864ENST00000369482p.?c.68+5delaUnknown
FCGR1BENSG00000198019ENST00000369384p.A279fs*>2c.835delGDeletion - Frameshift
C1orf167ENSG00000215910ENST00000312793p.T250Ic.749C>TSubstitution - Missense
AADACL3ENSG00000188984ENST00000359318p.G138Gc.414A>GSubstitution - coding silent
RPRD2ENSG00000163125ENST00000369068p.L1399fs*14c.4188delCDeletion - Frameshift
CA14ENSG00000118298ENST00000369111p.L306delLc.913_915delCTCDeletion - In frame
ZNF687ENSG00000143373ENST00000324048p.P698fs*15c.2088delCDeletion - Frameshift
SETDB1ENSG00000143379ENST00000271640p.Y340Nc.1018T>ASubstitution - Missense
SETDB1ENSG00000143379ENST00000368962p.Y340Nc.1018T>ASubstitution - Missense
HRNRENSG00000197915ENST00000368801p.G879Gc.2637C>TSubstitution - coding silent
ILDR2ENSG00000143195ENST00000271417p.C231delCc.691_693delTGCDeletion - In frame
ILDR2ENSG00000143195ENST00000271417p.L166Lc.496T>CSubstitution - coding silent
FLGENSG00000143631ENST00000368799p.R2787Hc.8360G>ASubstitution - Missense
UBR1ENSG00000159459ENST00000290650p.A699Tc.2095G>ASubstitution - Missense
ZNF106ENSG00000103994ENST00000263805p.R560Mc.1679G>TSubstitution - Missense
TP53BP1ENSG00000067369ENST00000263801p.T1055fs*36c.3162delCDeletion - Frameshift
MAP1AENSG00000166963ENST00000300231p.V134Ac.401T>CSubstitution - Missense
TSPAN1ENSG00000117472ENST00000372003p.N239Ic.716A>TSubstitution - Missense
ENST00000290575p.G451Gc.1353C>TSubstitution - coding silent
ZFC3H1ENSG00000133858ENST00000378743p.W1563*c.4689G>ASubstitution - Nonsense
ENST00000290575p.S476Tc.1427G>CSubstitution - Missense
ZBTB16ENSG00000109906ENST00000335953p.D132Nc.394G>ASubstitution - Missense
KCNC2ENSG00000166006ENST00000549446p.C125Rc.373T>CSubstitution - Missense
KCNC2ENSG00000166006ENST00000341669p.C125Rc.373T>CSubstitution - Missense
KMT2AENSG00000118058ENST00000534358p.K284Tc.851A>CSubstitution - Missense
NM_000926.2p.E851Ec.2553G>ASubstitution - coding silent
USP47ENSG00000170242ENST00000339865p.T1100Tc.3300T>CSubstitution - coding silent
CARD16ENSG00000204397ENST00000375706p.N99Kc.297C>ASubstitution - Missense
DDI1ENSG00000170967ENST00000302259p.G300Sc.898G>ASubstitution - Missense
DCUN1D5ENSG00000137692ENST00000260247p.?c.555+2T>CUnknown
MMP10ENSG00000166670ENST00000279441p.Y171Cc.512A>GSubstitution - Missense
ALG9ENSG00000086848ENST00000531154p.H75Hc.225C>TSubstitution - coding silent
ENST00000428306p.H478Hc.1434C>TSubstitution - coding silent
PPP2R1BENSG00000137713ENST00000527614p.*602*c.1805A>GSubstitution - coding silent
TRPM5ENSG00000070985ENST00000155858p.?c.3252-4G>AUnknown
SLC17A6ENSG00000091664ENST00000263160p.T162Sc.484A>TSubstitution - Missense
METTL15ENSG00000169519ENST00000407364p.N297Dc.889A>GSubstitution - Missense
CSTF3ENSG00000176102ENST00000323959p.Y450Yc.1350T>CSubstitution - coding silent
CSTF3ENSG00000176102ENST00000323959p.Y378Yc.1134T>CSubstitution - coding silent
PRRG4ENSG00000135378ENST00000257836p.R159fs*37c.470delGDeletion - Frameshift
ENST00000556104p.L92Mc.274C>ASubstitution - Missense
PAMR1ENSG00000149090ENST00000278360p.D370Dc.1110C>TSubstitution - coding silent
SLC1A2ENSG00000110436ENST00000278379p.N533Sc.1598A>GSubstitution - Missense
NAT10ENSG00000135372ENST00000257829p.D475fs*7c.1420delGDeletion - Frameshift
ZNF195ENSG00000005801ENST00000399602p.I565Ic.1695T>CSubstitution - coding silent
GPSM2ENSG00000121957ENST00000406462p.A240Ac.720T>CSubstitution - coding silent
EXOSC10ENSG00000171824ENST00000376936p.I858fs*2c.2565_2566insAInsertion - Frameshift
SRMENSG00000116649ENST00000376957p.R74fs*8c.221_224delGAGADeletion - Frameshift
PPM1JENSG00000155367ENST00000309276p.F297Fc.891T>CSubstitution - coding silent
GJA8ENSG00000121634ENST00000369235p.A365Vc.1094C>TSubstitution - Missense
NM_004284.2p.A554Ac.1662C>TSubstitution - coding silent
NM_004284.2p.G330Gc.990T>ASubstitution - coding silent
ANKRD34AENSG00000181039ENST00000323397p.L42Vc.124C>GSubstitution - Missense
CRB1ENSG00000134376ENST00000367400p.L9Ic.25C>ASubstitution - Missense
ASPMENSG00000066279ENST00000367409p.K3248Kc.9744A>GSubstitution - coding silent
TELO2ENSG00000100726ENST00000262319p.R759Hc.2276G>ASubstitution - Missense
CLCN7ENSG00000103249ENST00000382745p.G594Gc.1782C>TSubstitution - coding silent
HN1LENSG00000206053ENST00000248098p.Q154Hc.462G>TSubstitution - Missense
MAPK8IP3ENSG00000138834ENST00000250894p.L431Qc.1292T>ASubstitution - Missense
ABCC6ENSG00000091262ENST00000205557p.Q1441*c.4321C>TSubstitution - Nonsense
TMC5ENSG00000103534ENST00000396229p.G866Vc.2597G>TSubstitution - Missense
TMC5ENSG00000103534ENST00000219821p.G620Vc.1859G>TSubstitution - Missense
TMC7ENSG00000170537ENST00000304381p.K629Nc.1887A>CSubstitution - Missense
ITPRIPL2ENSG00000205730ENST00000381440p.R273Cc.817C>TSubstitution - Missense
SMG1ENSG00000157106ENST00000446231p.Y1751Hc.5251T>CSubstitution - Missense
SU_SMG1p.Y1747Hc.5239T>CSubstitution - Missense
ENSG00000005189ENST00000261377p.R246Hc.737G>ASubstitution - Missense
CUBNENSG00000107611ENST00000377833p.C3091Yc.9272G>ASubstitution - Missense
ITGA8ENSG00000077943ENST00000378076p.S933Tc.2797T>ASubstitution - Missense
NMT2ENSG00000152465ENST00000378165p.T64Ac.190A>GSubstitution - Missense
FAM171A1ENSG00000148468ENST00000378116p.I725Ic.2175T>CSubstitution - coding silent
FAM171A1ENSG00000148468ENST00000378116p.I725Ic.2175T>CSubstitution - coding silent
CDNFENSG00000185267ENST00000465530p.M1Vc.1A>GSubstitution - Missense
HSPA14ENSG00000187522ENST00000378372p.G227Gc.681T>CSubstitution - coding silent
MALRD1ENSG00000204740ENST00000454679p.A884fs*25c.2645_2646insAInsertion - Frameshift
THNSL1ENSG00000185875ENST00000376356p.A402Vc.1205C>TSubstitution - Missense
PTF1AENSG00000168267ENST00000376504p.A44Ac.132G>ASubstitution - coding silent
YME1L1ENSG00000136758ENST00000326799p.K471Kc.1413A>GSubstitution - coding silent
APBB1IPENSG00000077420ENST00000376236p.?c.1044+4_1044+7delagaaUnknown
MYO3AENSG00000095777ENST00000265944p.Q1187Rc.3560A>GSubstitution - Missense
EXD2ENSG00000081177ENST00000312994p.R30Cc.88C>TSubstitution - Missense
ALDH6A1ENSG00000119711ENST00000553458p.S153Pc.457T>CSubstitution - Missense
ABLIM1ENSG00000099204ENST00000369252p.?c.802+7T>CUnknown
ABLIM1ENSG00000099204ENST00000392952p.?c.34+7T>CUnknown
FAM45AENSG00000119979ENST00000361432p.A331Vc.992C>TSubstitution - Missense
PRLHRENSG00000119973ENST00000369169p.A121Tc.361G>ASubstitution - Missense
ATE1ENSG00000107669ENST00000224652p.G231Gc.693T>GSubstitution - coding silent
ATE1ENSG00000107669ENST00000369043p.V93Gc.278T>GSubstitution - Missense
LZTS2ENSG00000107816ENST00000370220p.A409Tc.1225G>ASubstitution - Missense
CYP17A1ENSG00000148795ENST00000369887p.D387Gc.1160A>GSubstitution - Missense
COL17A1ENSG00000065618ENST00000353479p.G1209Vc.3626G>TSubstitution - Missense
ENDOD1ENSG00000149218ENST00000278505p.V249Ec.746T>ASubstitution - Missense
AMOTL1ENSG00000166025ENST00000433060p.A704Ac.2112C>TSubstitution - coding silent
PARPBPENSG00000185480ENST00000327680p.L440Lc.1320C>TSubstitution - coding silent
NM_016575.1p.?c.243+6T>CUnknown
PARPBPENSG00000185480ENST00000358383p.L521Lc.1563C>TSubstitution - coding silent
NELL2ENSG00000184613ENST00000437801p.E46Gc.137A>GSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.A4Tc.10G>ASubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.A4Tc.10G>ASubstitution - Missense
GSX1ENSG00000169840ENST00000302945p.?c.412+5G>AUnknown
ATP8A2ENSG00000132932ENST00000381655p.M844Ic.2532G>ASubstitution - Missense
SHISA2ENSG00000180730ENST00000319420p.T294Tc.882T>CSubstitution - coding silent
BRCA2ENSG00000139618ENST00000544455p.V295Lc.883G>TSubstitution - Missense
BRCA2ENSG00000139618ENST00000544455p.E510Kc.1528G>ASubstitution - Missense
BRCA2ENSG00000139618ENST00000380152p.E510Kc.1528G>ASubstitution - Missense
SPOCD1ENSG00000134668ENST00000360482p.T12fs*75c.35delCDeletion - Frameshift
COL16A1ENSG00000084636ENST00000373672p.A714Vc.2141C>TSubstitution - Missense
MATN1ENSG00000162510ENST00000373765p.C227Cc.681C>TSubstitution - coding silent
LCKENSG00000182866ENST00000373564p.T344Tc.1032C>TSubstitution - coding silent
DCDC2BENSG00000222046ENST00000409358p.K206Nc.618G>TSubstitution - Missense
HMGB4ENSG00000176256ENST00000519684p.N115Tc.344A>CSubstitution - Missense
ENST00000326544p.A288Tc.862G>ASubstitution - Missense
ADCENSG00000142920ENST00000398167p.L361Rc.1082T>GSubstitution - Missense
ZMYM6ENSG00000163867ENST00000317538p.M98fs*60c.292delADeletion - Frameshift
STK40ENSG00000196182ENST00000373129p.I36Tc.107T>CSubstitution - Missense
STK40ENSG00000196182ENST00000359297p.I36Tc.107T>CSubstitution - Missense
FAM189A1ENSG00000104059ENST00000261275p.L157Lc.469C>TSubstitution - coding silent
VANGL2ENSG00000162738ENST00000368061p.K498Nc.1494A>TSubstitution - Missense
DCAF8ENSG00000132716ENST00000326837p.G32Gc.96G>ASubstitution - coding silent
ENSG00000258465ENST00000556710p.G186Gc.558G>ASubstitution - coding silent
ENSG00000258465ENST00000556710p.L35Ic.103C>ASubstitution - Missense
NR1I3ENSG00000143257ENST00000367983p.A152Tc.454G>ASubstitution - Missense
CLCNKBENSG00000184908ENST00000375679p.D521Gc.1562A>GSubstitution - Missense
SPENENSG00000065526ENST00000375759p.A2350Vc.7049C>TSubstitution - Missense
ZBTB44ENSG00000196323ENST00000397753p.R43Wc.127C>TSubstitution - Missense
VPS26BENSG00000151502ENST00000281187p.G236Rc.706G>ASubstitution - Missense
OTOGENSG00000188162ENST00000399397p.A1891Ac.5673C>TSubstitution - coding silent
MYOD1ENSG00000129152ENST00000250003p.C206Rc.616T>CSubstitution - Missense
ABCC8ENSG00000006071ENST00000389817p.L1096Lc.3286C>TSubstitution - coding silent
RCC2ENSG00000179051ENST00000375433p.L343Lc.1029G>ASubstitution - coding silent
ASTN1ENSG00000152092ENST00000361833p.L208Lc.622C>TSubstitution - coding silent
BRINP2ENSG00000198797ENST00000361539p.G81Gc.243T>GSubstitution - coding silent
PADI3ENSG00000142619ENST00000375460p.A72Vc.215C>TSubstitution - Missense
ENST00000263528p.R1168Wc.3502C>TSubstitution - Missense
SOAT1ENSG00000057252ENST00000367619p.L47Lc.139T>CSubstitution - coding silent
CACNA1EENSG00000198216ENST00000367570p.L146Pc.437T>CSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.N2804Tc.8411A>CSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.N2804Tc.8411A>CSubstitution - Missense
NPLENSG00000135838ENST00000367554p.I7fs*56c.11delCDeletion - Frameshift
FAM129AENSG00000135842ENST00000367511p.R659Kc.1976G>ASubstitution - Missense
RGL1ENSG00000143344ENST00000304685p.K618fs*25c.1847delADeletion - Frameshift
ING4ENSG00000111653ENST00000341550p.Y197Nc.589T>ASubstitution - Missense
CPSF6ENSG00000111605ENST00000435070p.R507*c.1519C>TSubstitution - Nonsense
PTPRBENSG00000127329ENST00000334414p.G355Rc.1063G>ASubstitution - Missense
PTPRBENSG00000127329ENST00000261266p.G137Rc.409G>ASubstitution - Missense
NM_002837.2p.G137Rc.409G>ASubstitution - Missense
FAM86C1ENSG00000158483ENST00000426628p.P65Sc.193C>TSubstitution - Missense
ACANENSG00000157766ENST00000439576p.E1333Gc.3998A>GSubstitution - Missense
CLPBENSG00000162129ENST00000294053p.R546Cc.1636C>TSubstitution - Missense
NUMA1ENSG00000137497ENST00000393695p.P272Tc.814C>ASubstitution - Missense
ENST00000317359p.V297Mc.889G>ASubstitution - Missense
AQP11ENSG00000178301ENST00000313578p.S113Pc.337T>CSubstitution - Missense
MYO7AENSG00000137474ENST00000409709p.L950Pc.2849T>CSubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.S2020Sc.6060C>TSubstitution - coding silent
ENST00000368915p.S2149Sc.6447C>TSubstitution - coding silent
DMBT1ENSG00000187908ENST00000368909p.S2020Sc.6060C>TSubstitution - coding silent
CPXM2ENSG00000121898ENST00000241305p.T536Tc.1608G>ASubstitution - coding silent
ACADSBENSG00000196177ENST00000358776p.?c.1128+3_1128+14delaaaaaaaaaaaaUnknown
CLRN3ENSG00000180745ENST00000368671p.F10Fc.30C>TSubstitution - coding silent
DHX32ENSG00000089876ENST00000284690p.I587Vc.1759A>GSubstitution - Missense
TTC40ENSG00000171811ENST00000368586p.A1034Tc.3100G>ASubstitution - Missense
TTC40ENSG00000171811ENST00000368582p.A1034Tc.3100G>ASubstitution - Missense
DPYSL4ENSG00000151640ENST00000338492p.S572fs?c.1707_1708delCTDeletion - Frameshift
CDC42BPBENSG00000198752ENST00000361246p.H962Rc.2885A>GSubstitution - Missense
ENST00000368526p.P197Pc.591T>GSubstitution - coding silent
KNDC1ENSG00000171798ENST00000304613p.L955Hc.2864T>ASubstitution - Missense
C14orf80ENSG00000185347ENST00000392522p.T385Tc.1155G>ASubstitution - coding silent
NUDT14ENSG00000183828ENST00000392568p.P133Tc.397C>ASubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.V1670Ac.5009T>CSubstitution - Missense
OR4K13ENSG00000176253ENST00000315693p.L212Rc.635T>GSubstitution - Missense
LRP10ENSG00000197324ENST00000359591p.L480fs*29c.1433delCDeletion - Frameshift
ABHD4ENSG00000100439ENST00000428304p.G173Dc.518G>ASubstitution - Missense
CPNE6ENSG00000100884ENST00000397016p.L439Lc.1315C>TSubstitution - coding silent
AP1G2ENSG00000213983ENST00000397120p.N690Hc.2068A>CSubstitution - Missense
NYNRINENSG00000205978ENST00000382554p.R1028Kc.3083G>ASubstitution - Missense
ADCY4ENSG00000129467ENST00000310677p.T1042Pc.3124A>CSubstitution - Missense
OR5B3ENSG00000172769ENST00000309403p.I11Tc.32T>CSubstitution - Missense
G2E3ENSG00000092140ENST00000206595p.?c.134+8A>GUnknown
PRKD1ENSG00000184304ENST00000331968p.K826Ec.2476A>GSubstitution - Missense
MRPL16ENSG00000166902ENST00000300151p.S43Sc.129C>ASubstitution - coding silent
OR52E4ENSG00000180974ENST00000316987p.Y180Nc.538T>ASubstitution - Missense
VWCEENSG00000167992ENST00000335613p.P294Hc.881C>ASubstitution - Missense
MS4A1ENSG00000156738ENST00000389939p.T41fs*6c.117delCDeletion - Frameshift
AHNAKENSG00000124942ENST00000378024p.K933fs*7c.2796delCDeletion - Frameshift
BEST1ENSG00000167995ENST00000378043p.A195Ac.585G>ASubstitution - coding silent
RBM4ENSG00000173933ENST00000310092p.A316Ac.948C>ASubstitution - coding silent
PELI3ENSG00000174516ENST00000320740p.G378fs*>92c.1130delGDeletion - Frameshift
WDR74ENSG00000133316ENST00000529106p.H69Qc.207C>ASubstitution - Missense
ADRBK1ENSG00000173020ENST00000308595p.Q147*c.439C>TSubstitution - Nonsense
CORO1BENSG00000172725ENST00000545016p.A49Vc.146C>TSubstitution - Missense
PZPENSG00000126838ENST00000261336p.P587Pc.1761G>ASubstitution - coding silent
PZPENSG00000126838ENST00000381997p.P456Pc.1368G>ASubstitution - coding silent
KERAENSG00000139330ENST00000266719p.L254Ic.760C>ASubstitution - Missense
CCDC38ENSG00000165972ENST00000344280p.S464Tc.1390T>ASubstitution - Missense
SOCS2ENSG00000120833ENST00000340600p.T158Tc.474G>ASubstitution - coding silent
NM_018979p.Q855Pc.2564A>CSubstitution - Missense
ERCC5ENSG00000134899ENST00000355739p.F556Fc.1668C>TSubstitution - coding silent
PLCH2ENSG00000149527ENST00000378486p.I285Vc.853A>GSubstitution - Missense
XM_371214.3p.I132Vc.394A>GSubstitution - Missense
RGS7ENSG00000182901ENST00000407727p.?c.1269+9A>GUnknown
HNRNPUENSG00000153187ENST00000444376p.F264Lc.790T>CSubstitution - Missense
AHCTF1ENSG00000153207ENST00000391829p.K2058fs*15c.6174delADeletion - Frameshift
ZDHHC6ENSG00000023041ENST00000369405p.E283Ec.849A>GSubstitution - coding silent
TCF7L2ENSG00000148737ENST00000355717p.Y177fs*16c.530delADeletion - Frameshift
ADRA2AENSG00000150594ENST00000280155p.V215Vc.645C>GSubstitution - coding silent
ADRA2AENSG00000150594ENST00000280155p.R218Cc.652C>TSubstitution - Missense
KIAA1598ENSG00000187164ENST00000355371p.P358Pc.1074T>ASubstitution - coding silent
PNLIPENSG00000175535ENST00000369221p.D222Gc.665A>GSubstitution - Missense
CCDC172ENSG00000182645ENST00000333254p.N117Dc.349A>GSubstitution - Missense
ENST00000336585p.?c.982+7T>CUnknown
SEMA4AENSG00000196189ENST00000368285p.S111fs*2c.323_324insAInsertion - Frameshift
OR4A47ENSG00000237388ENST00000446524p.A234fs*9c.695delADeletion - Frameshift
OR4X2ENSG00000172208ENST00000302329p.F185Vc.553T>GSubstitution - Missense
ETV3ENSG00000117036ENST00000368192p.R51Cc.151C>TSubstitution - Missense
KIRRELENSG00000183853ENST00000368173p.H139fs*35c.410delCDeletion - Frameshift
KIRRELENSG00000183853ENST00000359209p.H139fs*35c.410delCDeletion - Frameshift
NM_032496.1p.I563Tc.1688T>CSubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.R3098Rc.9294T>CSubstitution - coding silent
VWFENSG00000110799ENST00000261405p.G144Sc.430G>ASubstitution - Missense
ANO2ENSG00000047617ENST00000546188p.R155Wc.463C>TSubstitution - Missense
ANO2ENSG00000047617ENST00000327087p.R155Wc.463C>TSubstitution - Missense
ENST00000327087_v68p.V77Mc.229G>ASubstitution - Missense
ANO2ENSG00000047617ENST00000546188p.V77Mc.229G>ASubstitution - Missense
ANO2ENSG00000047617ENST00000327087p.V77Mc.229G>ASubstitution - Missense
ENST00000327087_v68p.C33Cc.99T>CSubstitution - coding silent
ANO2ENSG00000047617ENST00000546188p.C33Cc.99T>CSubstitution - coding silent
ANO2ENSG00000047617ENST00000327087p.C33Cc.99T>CSubstitution - coding silent
AVILENSG00000135407ENST00000257861p.L427Ic.1279C>ASubstitution - Missense
NOP2ENSG00000111641ENST00000399466p.A641Vc.1922C>TSubstitution - Missense
AVPR1AENSG00000166148ENST00000299178p.C275Sc.823T>ASubstitution - Missense
PPM1HENSG00000111110ENST00000228705p.?c.1245+2T>CUnknown
NAV3ENSG00000067798ENST00000397909p.H2373Yc.7117C>TSubstitution - Missense
NANOGNBENSG00000205857ENST00000382119p.R5Wc.13C>TSubstitution - Missense
NANOGNBENSG00000205857ENST00000382119p.K62Ic.185A>TSubstitution - Missense
NM_018979p.R66Sc.196C>ASubstitution - Missense
PPFIA2ENSG00000139220ENST00000549396p.L1091Lc.3271C>TSubstitution - coding silent
ATP2B1ENSG00000070961ENST00000261173p.F85Lc.253T>CSubstitution - Missense
AGTENSG00000135744ENST00000366667p.T76Ic.227C>TSubstitution - Missense
EPHA8ENSG00000070886ENST00000374644p.V75Ic.223G>ASubstitution - Missense
EPHA8ENSG00000070886ENST00000166244p.R621Rc.1863G>ASubstitution - coding silent
TRIM17ENSG00000162931ENST00000456946p.G310Gc.930C>TSubstitution - coding silent
SIPA1L2ENSG00000116991ENST00000366630p.Y1474Hc.4420T>CSubstitution - Missense
EXOC8ENSG00000116903ENST00000360394p.F262fs*43c.785delTDeletion - Frameshift
AGTENSG00000135744ENST00000366667p.P232Hc.695C>ASubstitution - Missense
LYSTENSG00000143669ENST00000389793p.H38Hc.114C>TSubstitution - coding silent
TBCEENSG00000116957ENST00000366601p.R355Qc.1064G>ASubstitution - Missense
TBCEENSG00000116957ENST00000543662p.R406Qc.1217G>ASubstitution - Missense
RBM34ENSG00000188739ENST00000408888p.K406Kc.1218A>GSubstitution - coding silent
GPR137BENSG00000077585ENST00000366592p.M327Ic.981G>ASubstitution - Missense
ATF7IPENSG00000171681ENST00000261168p.R571Qc.1712G>ASubstitution - Missense
ZNF605ENSG00000196458ENST00000360187p.T500Ac.1498A>GSubstitution - Missense
PIK3C2GENSG00000139144ENST00000433979p.N1088Tc.3263A>CSubstitution - Missense
PIK3C2GENSG00000139144ENST00000433979p.N1088Tc.3263A>CSubstitution - Missense
DERAENSG00000023697ENST00000428559p.I251Mc.753A>GSubstitution - Missense
SLCO1C1ENSG00000139155ENST00000266509p.W275Cc.825G>TSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.R5392Hc.16175G>ASubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.R5122Hc.15365G>ASubstitution - Missense
ZNF641ENSG00000167528ENST00000301042p.P241fs*21c.717delGDeletion - Frameshift
KMT2DENSG00000167548ENST00000301067p.D5257Dc.15771C>TSubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.D4987Dc.14961C>TSubstitution - coding silent
NCKAP5LENSG00000167566ENST00000335999p.D746fs*89c.2236delGDeletion - Frameshift
NCKAP5LENSG00000167566ENST00000335999p.D337fs*89c.1009delGDeletion - Frameshift
KCNH3ENSG00000135519ENST00000257981p.P1003fs*31c.3004delCDeletion - Frameshift
PRPHENSG00000135406ENST00000257860p.R459Cc.1375C>TSubstitution - Missense
KCNA5ENSG00000130037ENST00000252321p.T569fs*15c.1699delGDeletion - Frameshift
ASIC1ENSG00000110881ENST00000228468p.I220fs*150c.656delADeletion - Frameshift
KRT84ENSG00000161849ENST00000257951p.Y124fs*1c.372_373delCADeletion - Frameshift
KRT83ENSG00000170523ENST00000293670p.D242Nc.724G>ASubstitution - Missense
NM_182507.1p.Q312Rc.935A>GSubstitution - Missense
ARNT2ENSG00000172379ENST00000303329p.F403Lc.1207T>CSubstitution - Missense
MORF4L1ENSG00000185787ENST00000331268p.I35Tc.104T>CSubstitution - Missense
C15orf40ENSG00000169609ENST00000304177p.A39Vc.116C>TSubstitution - Missense
AKAP13ENSG00000170776ENST00000394518p.A801Tc.2401G>ASubstitution - Missense
FOLR1ENSG00000110195ENST00000393676p.N161Nc.483C>TSubstitution - coding silent
SLCO6A1ENSG00000205359ENST00000379807p.S445Pc.1333T>CSubstitution - Missense
CENPFENSG00000117724ENST00000366955p.V2156Gc.6467T>GSubstitution - Missense
KCNK2ENSG00000082482ENST00000444842p.R13Gc.37A>GSubstitution - Missense
KCNK2ENSG00000082482ENST00000444842p.D23Dc.69T>CSubstitution - coding silent
PROX1ENSG00000117707ENST00000498508p.S574Gc.1720A>GSubstitution - Missense
SPRYD3ENSG00000167778ENST00000301463p.D313fs*38c.937delGDeletion - Frameshift
OR6C75ENSG00000187857ENST00000343399p.R62Qc.185G>ASubstitution - Missense
DCDENSG00000161634ENST00000293371p.G79fs*5c.236delGDeletion - Frameshift
MYL6ENSG00000092841ENST00000550697p.G25Dc.74G>ASubstitution - Missense
MYL6ENSG00000092841ENST00000547649p.G25Dc.74G>ASubstitution - Missense
BAZ2AENSG00000076108ENST00000551812p.R959Hc.2876G>ASubstitution - Missense
RBMS2ENSG00000076067ENST00000262031p.L142Rc.425T>GSubstitution - Missense
PKMENSG00000067225ENST00000319622p.G201Gc.603C>GSubstitution - coding silent
PKMENSG00000067225ENST00000335181p.G201Gc.603C>GSubstitution - coding silent
PEAK1ENSG00000173517ENST00000312493p.P1467Pc.4401A>GSubstitution - coding silent
NEIL1ENSG00000140398ENST00000355059p.S344Nc.1031G>ASubstitution - Missense
ULK3ENSG00000140474ENST00000440863p.?c.243+2T>CUnknown
TBC1D2BENSG00000167202ENST00000409931p.E579Dc.1737G>CSubstitution - Missense
KIAA0226LENSG00000102445ENST00000429979p.S656Sc.1968T>CSubstitution - coding silent
KLRC3ENSG00000205810ENST00000381903p.N158Nc.474T>CSubstitution - coding silent
MYCBP2ENSG00000005810ENST00000357337p.Y2226*c.6678T>GSubstitution - Nonsense
MYCBP2ENSG00000005810ENST00000407578p.Y2264*c.6792T>GSubstitution - Nonsense
NM_015057.1p.Y2226*c.6678T>GSubstitution - Nonsense
UBAC2ENSG00000134882ENST00000376440p.Q223Rc.668A>GSubstitution - Missense
CREMENSG00000095794ENST00000361599p.?c.78+7G>AUnknown
ZNF485ENSG00000198298ENST00000374437p.P118Qc.353C>ASubstitution - Missense
ALPLENSG00000162551ENST00000374832p.?c.648+1G>AUnknown
RRP15ENSG00000067533ENST00000366932p.?c.406-5C>TUnknown
MIA3ENSG00000154305ENST00000344922p.R92Hc.275G>ASubstitution - Missense
DNAH14ENSG00000185842ENST00000430092p.K802fs*23c.2399delADeletion - Frameshift
CAPN8ENSG00000203697ENST00000366872p.E350Kc.1048G>ASubstitution - Missense
CDC42BPAENSG00000143776ENST00000334218p.P1113Pc.3339C>TSubstitution - coding silent
CDC42BPAENSG00000143776ENST00000334218p.P1113Lc.3338C>TSubstitution - Missense
CDC42BPAENSG00000143776ENST00000334218p.Q1112Lc.3335A>TSubstitution - Missense
CDC42BPAENSG00000143776ENST00000366767p.Q1031Lc.3092A>TSubstitution - Missense
LEFTY2ENSG00000143768ENST00000366820p.A303Vc.908C>TSubstitution - Missense
EPHX1ENSG00000143819ENST00000366837p.M359Vc.1075A>GSubstitution - Missense
ZMIZ1ENSG00000108175ENST00000334512p.Q920fs*87c.2752delCDeletion - Frameshift
CDHR1ENSG00000148600ENST00000372117p.T383Tc.1149C>TSubstitution - coding silent
CDHR1ENSG00000148600ENST00000332904p.T383Tc.1149C>TSubstitution - coding silent
KIF20BENSG00000138182ENST00000260753p.S1035fs*18c.3097delADeletion - Frameshift
PLCE1ENSG00000138193ENST00000260766p.M1092Vc.3274A>GSubstitution - Missense
FGFBP3ENSG00000174721ENST00000311575p.L18Pc.53T>CSubstitution - Missense
SORL1ENSG00000137642ENST00000260197p.P227Hc.680C>ASubstitution - Missense
ENST00000334956_v70p.R38Hc.113G>ASubstitution - Missense
TMEM225ENSG00000204300ENST00000375026p.R201Hc.602G>ASubstitution - Missense
MICALCLENSG00000133808ENST00000256186p.R671Hc.2012G>ASubstitution - Missense
MICAL2ENSG00000133816ENST00000256194p.A367Tc.1099G>ASubstitution - Missense
MICAL2ENSG00000133816ENST00000379612p.A367Tc.1099G>ASubstitution - Missense
ENST00000349637p.A705Tc.2113G>ASubstitution - Missense
ARHGAP32ENSG00000134909ENST00000310343p.L915Lc.2745A>GSubstitution - coding silent
ARHGAP32ENSG00000134909ENST00000392657p.L566Lc.1698A>GSubstitution - coding silent
ETS1ENSG00000134954ENST00000319397p.V34Ac.101T>CSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.T3823Ic.11468C>TSubstitution - Missense
ENST00000349637p.T3802Ic.11405C>TSubstitution - Missense
PRDM10ENSG00000170325ENST00000360871p.V61Vc.183G>TSubstitution - coding silent
CRY2ENSG00000121671ENST00000443527p.L309Pc.926T>CSubstitution - Missense
OR52K2ENSG00000181963ENST00000325719p.V227Ic.679G>ASubstitution - Missense
CD82ENSG00000085117ENST00000227155p.L85Lc.253C>TSubstitution - coding silent
PKP3ENSG00000184363ENST00000331563p.R386Hc.1157G>ASubstitution - Missense
ENST00000263762p.L288Pc.863T>CSubstitution - Missense
SLC35C1ENSG00000181830ENST00000314134p.T85Tc.255G>TSubstitution - coding silent
CHRM4ENSG00000180720ENST00000433765p.T29Tc.87G>TSubstitution - coding silent
FNBP4ENSG00000109920ENST00000263773p.P163Pc.489T>CSubstitution - coding silent
JAKMIP1ENSG00000152969ENST00000282924p.A587Tc.1759G>ASubstitution - Missense
SLC26A7ENSG00000147606ENST00000276609p.E632fs*1c.1885_1886insTInsertion - Frameshift
SLC26A7ENSG00000147606ENST00000309536p.E632fs*1c.1885_1886insTInsertion - Frameshift
MLXENSG00000108788ENST00000246912p.R202Cc.604C>TSubstitution - Missense
RNASELENSG00000135828ENST00000367559p.A345fs*3c.1033delGDeletion - Frameshift
SHCBP1LENSG00000157060ENST00000367547p.Y260fs*84c.778delTDeletion - Frameshift
PRDM2ENSG00000116731ENST00000235372p.E278Dc.834A>TSubstitution - Missense
DGKIENSG00000157680ENST00000288490p.P508Pc.1524C>TSubstitution - coding silent
DGKIENSG00000157680ENST00000288490p.P508Pc.1524C>TSubstitution - coding silent
ENST00000321016_v61p.T1304Tc.3912G>ASubstitution - coding silent
CTSDENSG00000117984ENST00000236671p.Q90fs*43c.268delCDeletion - Frameshift
NPATENSG00000149308ENST00000278612p.S548fs*11c.1642delADeletion - Frameshift
STAMBPL1ENSG00000138134ENST00000371924p.K405fs*21c.1207delADeletion - Frameshift
USP24ENSG00000162402ENST00000294383p.N614fs*12c.1841_1842insAInsertion - Frameshift
CHD5ENSG00000116254ENST00000262450p.P1887fs*14c.5660delCDeletion - Frameshift
C1QCENSG00000159189ENST00000374637p.C179Cc.537C>TSubstitution - coding silent
STARD13ENSG00000133121ENST00000336934p.S964fs*4c.2889delCDeletion - Frameshift
FREM2ENSG00000150893ENST00000280481p.G225Gc.675C>TSubstitution - coding silent
ENST00000256007p.R491fs*14c.1463_1464insAInsertion - Frameshift
LRRIQ1ENSG00000133640ENST00000393217p.R491fs*14c.1463_1464insAInsertion - Frameshift
AMOTL1ENSG00000166025ENST00000433060p.S295fs*26c.874delGDeletion - Frameshift
KLRK1ENSG00000213809ENST00000240618p.F55fs*7c.164delTDeletion - Frameshift
ULK1ENSG00000177169ENST00000321867p.T575fs*72c.1717delCDeletion - Frameshift
CCKBRENSG00000110148ENST00000525462p.L413fs*35c.1229delTDeletion - Frameshift
TAF15ENSG00000172660ENST00000311979p.E285fs*41c.849delGDeletion - Frameshift
WNK4ENSG00000126562ENST00000246914p.V608fs*53c.1816delGDeletion - Frameshift
ENST00000299564p.R387Cc.1159C>TSubstitution - Missense
KIFC3ENSG00000140859ENST00000379655p.G129fs*11c.386delGDeletion - Frameshift
AKAP13ENSG00000170776ENST00000361243p.K2791fs*>27c.8365delADeletion - Frameshift
ENST00000338282p.P1933fs*>6c.5798delCDeletion - Frameshift
FSIP2ENSG00000188738ENST00000343098p.V432fs*24c.1287delADeletion - Frameshift
FIGNENSG00000182263ENST00000333129p.K70fs*29c.210delADeletion - Frameshift
NLRP12ENSG00000142405ENST00000324134p.V730fs*1c.2188delGDeletion - Frameshift
CCDC151ENSG00000198003ENST00000356392p.F89fs*27c.267delTDeletion - Frameshift
DAZAP1ENSG00000071626ENST00000336761p.M90fs*53c.263delGDeletion - Frameshift
GPR171ENSG00000174946ENST00000309180p.Y22fs*2c.64delTDeletion - Frameshift
MICAL3ENSG00000243156ENST00000441493p.R1499fs*106c.4495delCDeletion - Frameshift
AGBL5ENSG00000084693ENST00000360131p.G426Gc.1278C>TSubstitution - coding silent
INO80DENSG00000114933ENST00000403263p.M514fs*5c.1540delADeletion - Frameshift
INO80DENSG00000114933ENST00000403263p.M409fs*5c.1225delADeletion - Frameshift
IRS1ENSG00000169047ENST00000305123p.H598fs*38c.1791delGDeletion - Frameshift
TTNENSG00000155657ENST00000342992p.R1350Cc.4048C>TSubstitution - Missense
NSD1ENSG00000165671ENST00000439151p.M1531fs*43c.4585delADeletion - Frameshift
NSD1ENSG00000165671ENST00000439151p.M1531fs*43c.4585delADeletion - Frameshift
ZNF454ENSG00000178187ENST00000320129p.T62Mc.185C>TSubstitution - Missense
UGT2A3ENSG00000135220ENST00000251566p.F114fs*4c.342delTDeletion - Frameshift
SMARCA5ENSG00000153147ENST00000283131p.A1040Tc.3118G>ASubstitution - Missense
RP1ENSG00000104237ENST00000220676p.R793fs*55c.2371delADeletion - Frameshift
SWSAP1ENSG00000173928ENST00000312423p.R65Hc.194G>ASubstitution - Missense
HRH1ENSG00000196639ENST00000397056p.M206Vc.616A>GSubstitution - Missense
OR1Q1ENSG00000165202ENST00000297913p.S75Sc.225C>TSubstitution - coding silent
INO80ENSG00000128908ENST00000361937p.D1379Gc.4136A>GSubstitution - Missense
INO80ENSG00000128908ENST00000361937p.D1379Gc.4136A>GSubstitution - Missense
TENM2ENSG00000145934ENST00000519204p.C512Cc.1536C>TSubstitution - coding silent
EGFL8ENSG00000241404ENST00000395512p.A107Vc.320C>TSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.G245Sc.733G>ASubstitution - Missense
ASPHENSG00000198363ENST00000379454p.Q141Hc.423G>TSubstitution - Missense
SHPRHENSG00000146414ENST00000367505p.R1365Cc.4093C>TSubstitution - Missense
SECISBP2LENSG00000138593ENST00000559471p.R589Cc.1765C>TSubstitution - Missense
XM_370630.2p.G225Gc.675G>CSubstitution - coding silent
XKR4ENSG00000206579ENST00000327381p.R614Qc.1841G>ASubstitution - Missense
PEAR1ENSG00000187800ENST00000338302p.G899Dc.2696G>ASubstitution - Missense
RGL4ENSG00000159496ENST00000290691p.H285fs*83c.853_854insCInsertion - Frameshift
SLCO1A2ENSG00000084453ENST00000307378p.C465Yc.1394G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R283Hc.848G>ASubstitution - Missense
FLCNENSG00000154803ENST00000285071p.H429fs*39c.1285delCDeletion - Frameshift
REPS1ENSG00000135597ENST00000258062p.R131Hc.392G>ASubstitution - Missense
MYO10ENSG00000145555ENST00000274203p.S1226fs*25c.3674_3675insGInsertion - Frameshift
KMT2DENSG00000167548ENST00000301067p.R2140*c.6418C>TSubstitution - Nonsense
CD36ENSG00000135218ENST00000394788p.F135Lc.403T>CSubstitution - Missense
ENSG00000272333ENST00000222270p.G1881fs*16c.5637delGDeletion - Frameshift
DDX41ENSG00000183258ENST00000507955p.R580Rc.1740C>TSubstitution - coding silent
ARSJENSG00000180801ENST00000315366p.K579fs*>21c.1736delADeletion - Frameshift
PLOD3ENSG00000106397ENST00000223127p.R297fs*61c.889delCDeletion - Frameshift
HS3ST1ENSG00000002587ENST00000002596p.L37Fc.109C>TSubstitution - Missense
GYPEENSG00000197465ENST00000358615p.A54Vc.161C>TSubstitution - Missense
PLEKHA6ENSG00000143850ENST00000272203p.V328fs*172c.982delGDeletion - Frameshift
NRXN2ENSG00000110076ENST00000377551p.A1030Tc.3088G>ASubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.F2072Fc.6216C>TSubstitution - coding silent
DNAH3ENSG00000158486ENST00000261383p.F2072Fc.6216C>TSubstitution - coding silent
USP48ENSG00000090686ENST00000308271p.T954Tc.2862G>ASubstitution - coding silent
DOCK3ENSG00000088538ENST00000266037p.P1852fs*45c.5549delCDeletion - Frameshift
TLK2ENSG00000146872ENST00000326270p.R262Qc.785G>ASubstitution - Missense
ATP8B1ENSG00000081923ENST00000283684p.P792fs*8c.2373delTDeletion - Frameshift
KCNA4ENSG00000182255ENST00000328224p.F221fs*21c.663delTDeletion - Frameshift
PTGFRNENSG00000134247ENST00000393203p.S235Fc.704C>TSubstitution - Missense
DCLK2ENSG00000170390ENST00000302176p.S705Sc.2115C>TSubstitution - coding silent
PDCD10ENSG00000114209ENST00000392750p.S71fs*18c.211delADeletion - Frameshift
ANKRD30AENSG00000148513ENST00000361713p.N1326fs*>16c.3972delADeletion - Frameshift
TLK2ENSG00000146872ENST00000346027p.R262Qc.785G>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.R1350Hc.4049G>ASubstitution - Missense
ENST00000417177p.R1355Hc.4064G>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.R1355Hc.4064G>ASubstitution - Missense
KRT86ENSG00000170442ENST00000293525p.R288Hc.863G>ASubstitution - Missense
LRP2ENSG00000081479ENST00000263816p.R4042Hc.12125G>ASubstitution - Missense
CYP26B1ENSG00000003137ENST00000001146p.A266Tc.796G>ASubstitution - Missense
UGT1A5ENSG00000240224ENST00000373414p.G471Gc.1413C>TSubstitution - coding silent
UGT1A6ENSG00000167165ENST00000305139p.G469Gc.1407C>TSubstitution - coding silent
UGT1A8ENSG00000241635ENST00000373450p.G467Gc.1401C>TSubstitution - coding silent
ZNF560ENSG00000198028ENST00000301480p.R694Qc.2081G>ASubstitution - Missense
NRAPENSG00000197893ENST00000359988p.P247Pc.741C>ASubstitution - coding silent
TNNT2ENSG00000118194ENST00000367322p.?c.681-6G>AUnknown
RNASELENSG00000135828ENST00000367559p.R310Wc.928C>TSubstitution - Missense
ARHGEF12ENSG00000196914ENST00000397843p.R993Cc.2977C>TSubstitution - Missense
FLCNENSG00000154803ENST00000389169p.R57Qc.170G>ASubstitution - Missense
MON1BENSG00000103111ENST00000248248p.R203Cc.607C>TSubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.R2221Hc.6662G>ASubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.R2221Hc.6662G>ASubstitution - Missense
NEBENSG00000183091ENST00000409198p.T1139Tc.3417G>ASubstitution - coding silent
NRROSENSG00000174004ENST00000328557p.T588Ic.1763C>TSubstitution - Missense
MGAT3ENSG00000128268ENST00000341184p.A483Ac.1449G>ASubstitution - coding silent
SPHKAPENSG00000153820ENST00000392056p.V452Ic.1354G>ASubstitution - Missense
TENM2ENSG00000145934ENST00000518659p.C633Cc.1899C>TSubstitution - coding silent
ENST00000388903p.C466Cc.1398C>TSubstitution - coding silent
FAM193AENSG00000125386ENST00000382839p.Y38Yc.114C>TSubstitution - coding silent
RBM47ENSG00000163694ENST00000319592p.H296Yc.886C>TSubstitution - Missense
C4orf21ENSG00000138658ENST00000505019p.S1110Lc.3329C>TSubstitution - Missense
BBS12ENSG00000181004ENST00000314218p.A23Vc.68C>TSubstitution - Missense
WNT5AENSG00000114251ENST00000264634p.R404Hc.1211G>ASubstitution - Missense
CADPSENSG00000163618ENST00000383710p.A436Ac.1308C>TSubstitution - coding silent
PCDH15ENSG00000150275ENST00000395438p.R1350Hc.4049G>ASubstitution - Missense
TLK2ENSG00000146872ENST00000346027p.R262Qc.785G>ASubstitution - Missense
PIAS3ENSG00000131788ENST00000393045p.A602fs*2c.1798delGDeletion - Frameshift
AXIN2ENSG00000168646ENST00000307078p.N666fs*41c.1994_1995insGInsertion - Frameshift
ATP2B2ENSG00000157087ENST00000383800p.T1175Mc.3524C>TSubstitution - Missense
MYO16ENSG00000041515ENST00000357550p.F842fs*17c.2518delTDeletion - Frameshift
TENM4ENSG00000149256ENST00000278550p.A1962Vc.5885C>TSubstitution - Missense
JAKMIP1ENSG00000152969ENST00000409021p.A587Tc.1759G>ASubstitution - Missense


COSMIC

0 mutations reported
0 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID