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CML-T1 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

5263 mutations reported
1715 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
KMT2EENSG00000005483ENST00000257745p.V28Ic.82G>ASubstitution - Missense
TCF7L2ENSG00000148737ENST00000543371p.A397Vc.1190C>TSubstitution - Missense
C1orf198ENSG00000119280ENST00000366663p.A178Tc.532G>ASubstitution - Missense
TFPIENSG00000003436ENST00000409676p.P200Pc.600G>ASubstitution - coding silent
BRF1ENSG00000185024ENST00000546474p.S293fs*11c.876delCDeletion - Frameshift
TPTEENSG00000166157ENST00000298232p.S405Lc.1214C>TSubstitution - Missense
SDK1ENSG00000146555ENST00000404826p.A188Tc.562G>ASubstitution - Missense
MRGPRX3ENSG00000179826ENST00000396275p.Y215Yc.645C>TSubstitution - coding silent
RBM10ENSG00000182872ENST00000377604p.V333Ic.997G>ASubstitution - Missense
TCFL5ENSG00000101190ENST00000335351p.G366Gc.1098C>TSubstitution - coding silent
SLC17A7ENSG00000104888ENST00000221485p.P133Pc.399A>GSubstitution - coding silent
IGSF10ENSG00000152580ENST00000282466p.A1725Tc.5173G>ASubstitution - Missense
RYR1ENSG00000196218ENST00000359596p.A3541Tc.10621G>ASubstitution - Missense
TAF1LENSG00000122728ENST00000242310p.A852fs*14c.2553delADeletion - Frameshift
FBXW7ENSG00000109670ENST00000281708p.R465Hc.1394G>ASubstitution - Missense
ABCC8ENSG00000006071ENST00000389817p.A256Tc.766G>ASubstitution - Missense
MYBPC1ENSG00000196091ENST00000360610p.T732Mc.2195C>TSubstitution - Missense
NCOR2ENSG00000196498ENST00000405201p.R1257Hc.3770G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000399617p.R1656Cc.4966C>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000402845p.R1734Cc.5200C>TSubstitution - Missense
BTN1A1ENSG00000124557ENST00000244513p.R420Cc.1258C>TSubstitution - Missense
TMEM164ENSG00000157600ENST00000372073p.V187Ac.560T>CSubstitution - Missense
HRNRENSG00000197915ENST00000368801p.H260Hc.780C>TSubstitution - coding silent
ENST00000374536p.F400Fc.1200C>TSubstitution - coding silent
TIE1ENSG00000066056ENST00000372476p.G999Dc.2996G>ASubstitution - Missense
CWF19L2ENSG00000152404ENST00000282251p.R550Qc.1649G>ASubstitution - Missense
TNNT2ENSG00000118194ENST00000367322p.?c.681-6G>AUnknown
ATP6V0A2ENSG00000185344ENST00000330342p.V202Mc.604G>ASubstitution - Missense
ISLR2ENSG00000167178ENST00000361742p.I63Ic.189C>TSubstitution - coding silent
ROCK1ENSG00000067900ENST00000399799p.R403Hc.1208G>ASubstitution - Missense
RYR1ENSG00000196218ENST00000359596p.R3337Wc.10009C>TSubstitution - Missense
CDC25AENSG00000164045ENST00000302506p.R270Pc.809G>CSubstitution - Missense
ERC2ENSG00000187672ENST00000288221p.R20Hc.59G>ASubstitution - Missense
ERC2ENSG00000187672ENST00000288221p.R20Hc.59G>ASubstitution - Missense
SLC34A2ENSG00000157765ENST00000382051p.R513Hc.1538G>ASubstitution - Missense
PPWD1ENSG00000113593ENST00000261308p.R130Hc.389G>ASubstitution - Missense
RANBP2ENSG00000153201ENST00000283195p.L517Fc.1549C>TSubstitution - Missense
SLC27A4ENSG00000167114ENST00000300456p.R564Hc.1691G>ASubstitution - Missense
CLEC16AENSG00000038532ENST00000409790p.S466Sc.1398C>TSubstitution - coding silent
B3GALTLENSG00000187676ENST00000343307p.I468Ic.1404C>TSubstitution - coding silent
MYH1ENSG00000109061ENST00000226207p.A1157Ac.3471C>TSubstitution - coding silent
SALL4ENSG00000101115ENST00000217086p.S849Sc.2547G>ASubstitution - coding silent
ADAMTS20ENSG00000173157ENST00000389420p.S447Ic.1340G>TSubstitution - Missense
ENST00000373969p.T614Mc.1841C>TSubstitution - Missense
EBF3ENSG00000108001ENST00000368648p.A517Tc.1549G>ASubstitution - Missense
EBF3ENSG00000108001ENST00000355311p.A562Tc.1684G>ASubstitution - Missense
ERCC5ENSG00000134899ENST00000355739p.M222Ic.666G>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.R1350Hc.4049G>ASubstitution - Missense
ENST00000417177p.R1355Hc.4064G>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.R1355Hc.4064G>ASubstitution - Missense
EDNRBENSG00000136160ENST00000334286p.Y293fs*3c.877delTDeletion - Frameshift
ISXENSG00000175329ENST00000308700p.T182Tc.546G>ASubstitution - coding silent
HIVEP3ENSG00000127124ENST00000372583p.R323Hc.968G>ASubstitution - Missense
IRX1ENSG00000170549ENST00000302006p.A378Tc.1132G>ASubstitution - Missense
MAN1B1ENSG00000177239ENST00000371589p.S502Sc.1506C>TSubstitution - coding silent
C3ENSG00000125730ENST00000245907p.S1008fs*8c.3021delCDeletion - Frameshift
ENPP7ENSG00000182156ENST00000328313p.G257Gc.771C>TSubstitution - coding silent
GEMIN4ENSG00000179409ENST00000319004p.E329fs*24c.985delGDeletion - Frameshift
KIAA0195ENSG00000177728ENST00000314256p.S895fs*13c.2676delCDeletion - Frameshift
CHRM2ENSG00000181072ENST00000320658p.R381Qc.1142G>ASubstitution - Missense
SCN5AENSG00000183873ENST00000333535p.F1679Fc.5037C>TSubstitution - coding silent
ZFC3H1ENSG00000133858ENST00000378743p.K385fs*9c.1155delADeletion - Frameshift
ABCA12ENSG00000144452ENST00000272895p.T1800Mc.5399C>TSubstitution - Missense
SU_LRRK2p.R1651fs*15c.4944delADeletion - Frameshift
LRRK2ENSG00000188906ENST00000298910p.R1639fs*15c.4908delADeletion - Frameshift
TMPRSS11AENSG00000187054ENST00000334830p.K48fs*11c.143delADeletion - Frameshift
UNC5BENSG00000107731ENST00000335350p.R525Cc.1573C>TSubstitution - Missense
SLC7A3ENSG00000165349ENST00000374299p.A298Ac.894G>ASubstitution - coding silent
CALD1ENSG00000122786ENST00000361675p.S493Sc.1479G>ASubstitution - coding silent
SSH1ENSG00000084112ENST00000326495p.S114Sc.342C>TSubstitution - coding silent
HIC1ENSG00000177374ENST00000399849p.A41Vc.122C>TSubstitution - Missense
PRKACAENSG00000072062ENST00000308677p.R337Wc.1009C>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000507740p.R632*c.1894C>TSubstitution - Nonsense
ENST00000246798p.R545Wc.1633C>TSubstitution - Missense
PRR12ENSG00000126464ENST00000418929p.R1365Wc.4093C>TSubstitution - Missense
CLDN9ENSG00000213937ENST00000445369p.R194Hc.581G>ASubstitution - Missense
DCST1ENSG00000163357ENST00000295542p.R498Hc.1493G>ASubstitution - Missense
AP3B1ENSG00000132842ENST00000255194p.K923fs*4c.2769delADeletion - Frameshift
CCDC41ENSG00000173588ENST00000339839p.R511Qc.1532G>ASubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.R1420*c.4258C>TSubstitution - Nonsense
ROBO1ENSG00000169855ENST00000464233p.R1420*c.4258C>TSubstitution - Nonsense
KIF1BENSG00000054523ENST00000377093p.R1091Cc.3271C>TSubstitution - Missense
CROCCENSG00000058453ENST00000375541p.R104Rc.312C>TSubstitution - coding silent
SMG7ENSG00000116698ENST00000507469p.M803fs*1c.2399delADeletion - Frameshift
RYR2ENSG00000198626ENST00000366574p.G1470Vc.4409G>TSubstitution - Missense
KIF26BENSG00000162849ENST00000407071p.R1970Cc.5908C>TSubstitution - Missense
TRIM58ENSG00000162722ENST00000366481p.R181Cc.541C>TSubstitution - Missense
ST8SIA6ENSG00000148488ENST00000377602p.A252fs*53c.753delADeletion - Frameshift
NUCB2ENSG00000070081ENST00000529010p.K400fs*15c.1193delADeletion - Frameshift
OR5AR1ENSG00000172459ENST00000302969p.F104fs*2c.306delTDeletion - Frameshift
SYTL1ENSG00000142765ENST00000318074p.T504Tc.1512C>TSubstitution - coding silent
ENST00000290858_v70p.R78*c.232C>TSubstitution - Nonsense
TROVE2ENSG00000116747ENST00000367444p.R149Qc.446G>ASubstitution - Missense
ZNF514ENSG00000144026ENST00000295208p.T399fs*>2c.1195delADeletion - Frameshift
PCDHGA7ENSG00000253537ENST00000518325p.S681Sc.2043C>TSubstitution - coding silent
CPED1ENSG00000106034ENST00000310396p.H927fs*4c.2771_2772insAInsertion - Frameshift
CACNB4ENSG00000182389ENST00000539935p.R482Qc.1445G>ASubstitution - Missense
CACNB4ENSG00000182389ENST00000539935p.R482Qc.1445G>ASubstitution - Missense
GRID2ENSG00000152208ENST00000282020p.T675Ic.2024C>TSubstitution - Missense
TIMM44ENSG00000104980ENST00000270538p.K83fs*9c.249delADeletion - Frameshift
LRRC15ENSG00000172061ENST00000439944p.R209Qc.626G>ASubstitution - Missense
TCF7L2ENSG00000148737ENST00000355717p.A421Vc.1262C>TSubstitution - Missense
C1orf198ENSG00000119280ENST00000366663p.R197Qc.590G>ASubstitution - Missense
JARID2ENSG00000008083ENST00000341776p.R425fs*36c.1266delGDeletion - Frameshift
OAS2ENSG00000111335ENST00000342315p.N426fs*14c.1271delADeletion - Frameshift
QKIENSG00000112531ENST00000275262p.K134fs*14c.394delADeletion - Frameshift
PABPC4ENSG00000090621ENST00000372857p.R265Cc.793C>TSubstitution - Missense
EP400ENSG00000183495ENST00000389561p.T2663Mc.7988C>TSubstitution - Missense
FLT1ENSG00000102755ENST00000282397p.R1257Hc.3770G>ASubstitution - Missense
ENST00000512655p.R86Cc.256C>TSubstitution - Missense
KCNB2ENSG00000182674ENST00000523207p.H46Hc.138C>TSubstitution - coding silent
ENST00000341648p.P410fs*65c.1224delCDeletion - Frameshift
ENST00000380437p.?c.93+2T>CUnknown
ABHD2ENSG00000140526ENST00000352732p.R409Cc.1225C>TSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.R1030Hc.3089G>ASubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.R1030Hc.3089G>ASubstitution - Missense
HOOK2ENSG00000095066ENST00000397668p.R279Wc.835C>TSubstitution - Missense
CCDC178ENSG00000166960ENST00000300227p.N827Nc.2481C>TSubstitution - coding silent
TFDP3ENSG00000183434ENST00000310125p.V34Mc.100G>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000395438p.R1350Hc.4049G>ASubstitution - Missense
ALKBH4ENSG00000160993ENST00000292566p.A294Tc.880G>ASubstitution - Missense
PIK3CGENSG00000105851ENST00000440650p.E781Kc.2341G>ASubstitution - Missense
FAM91A1ENSG00000176853ENST00000334705p.A379Tc.1135G>ASubstitution - Missense
RHPN1ENSG00000158106ENST00000289013p.C30Cc.90C>TSubstitution - coding silent
MTUS1ENSG00000129422ENST00000262102p.A896Ac.2688G>ASubstitution - coding silent
MTUS1ENSG00000129422ENST00000381861p.A143Ac.429G>ASubstitution - coding silent
MTUS1ENSG00000129422ENST00000297488p.A62Ac.186G>ASubstitution - coding silent
STAG2ENSG00000101972ENST00000371160p.R370Qc.1109G>ASubstitution - Missense
TLR9ENSG00000239732ENST00000360658p.A164Tc.490G>ASubstitution - Missense
CNOT3ENSG00000088038ENST00000221232p.D205Dc.615C>TSubstitution - coding silent
CNOT3ENSG00000088038ENST00000358389p.D24Dc.72C>TSubstitution - coding silent
STK11IPENSG00000144589ENST00000295641p.R1037Hc.3110G>ASubstitution - Missense
EWSR1ENSG00000182944ENST00000397938p.R455Wc.1363C>TSubstitution - Missense
CASKIN1ENSG00000167971ENST00000343516p.A404Tc.1210G>ASubstitution - Missense
ENST00000382453p.A233Tc.697G>ASubstitution - Missense
ZNF213ENSG00000085644ENST00000574902p.P316Pc.948G>ASubstitution - coding silent
NHLRC4ENSG00000257108ENST00000424439p.V62Ac.185T>CSubstitution - Missense
NM_002311.2p.D344Dc.1032C>TSubstitution - coding silent
UNC45BENSG00000141161ENST00000394570p.H696Hc.2088C>TSubstitution - coding silent
NMT1ENSG00000136448ENST00000258960p.A418Vc.1253C>TSubstitution - Missense
ENST00000300671p.R1516Cc.4546C>TSubstitution - Missense
TRMT1ENSG00000104907ENST00000357720p.R597Wc.1789C>TSubstitution - Missense
PGLSENSG00000130313ENST00000252603p.R197*c.589C>TSubstitution - Nonsense
ST6GALNAC2ENSG00000070731ENST00000225276p.T203Mc.608C>TSubstitution - Missense
CD1EENSG00000158488ENST00000368167p.R286Qc.857G>ASubstitution - Missense
SLITRK4ENSG00000179542ENST00000381779p.S790fs*5c.2368delADeletion - Frameshift
GBP4ENSG00000162654ENST00000355754p.?c.916+1G>AUnknown
KCNJ12ENSG00000184185ENST00000331718p.R313Hc.938G>ASubstitution - Missense
TYK2ENSG00000105397ENST00000525621p.T1106fs*5c.3315_3316insCInsertion - Frameshift
NTNG1ENSG00000162631ENST00000370068p.T15Tc.45G>ASubstitution - coding silent
NTNG1ENSG00000162631ENST00000370071p.T15Tc.45G>ASubstitution - coding silent
NTNG1ENSG00000162631ENST00000370074p.T15Tc.45G>ASubstitution - coding silent
ETV4ENSG00000175832ENST00000319349p.G121Gc.363C>TSubstitution - coding silent
NUB1ENSG00000013374ENST00000566856p.K306fs*2c.911delADeletion - Frameshift
ST18ENSG00000147488ENST00000276480p.N621fs*10c.1862delADeletion - Frameshift
NBNENSG00000104320ENST00000265433p.R466fs*18c.1396delADeletion - Frameshift
TNKSENSG00000173273ENST00000310430p.T508fs*33c.1516delADeletion - Frameshift
NM_012197.2p.N858fs*15c.2566delADeletion - Frameshift
OMDENSG00000127083ENST00000375550p.G52Rc.154G>ASubstitution - Missense
MAP9ENSG00000164114ENST00000311277p.K567fs*13c.1700delADeletion - Frameshift
FRYLENSG00000075539ENST00000503238p.L330fs*1c.989delTDeletion - Frameshift
NM_016323.1p.I140fs*1c.410delADeletion - Frameshift
PCDHA6ENSG00000081842ENST00000378126p.G573Sc.1717G>ASubstitution - Missense
PCDH12ENSG00000113555ENST00000231484p.K224fs*41c.669delCDeletion - Frameshift
PWWP2AENSG00000170234ENST00000456329p.K334fs*25c.1001delADeletion - Frameshift
MROH2BENSG00000171495ENST00000399564p.I1372fs*5c.4114delADeletion - Frameshift
KIAA0825ENSG00000185261ENST00000312498p.F767fs*27c.2301delTDeletion - Frameshift
REV3LENSG00000009413ENST00000358835p.K484fs*33c.1451delADeletion - Frameshift
NM_002912.1p.K406fs*33c.1217delADeletion - Frameshift
SLC44A4ENSG00000204385ENST00000229729p.F618fs*25c.1853delTDeletion - Frameshift
TNPO3ENSG00000064419ENST00000265388p.Y848fs*8c.2541_2542insCInsertion - Frameshift
TNPO3ENSG00000064419ENST00000393245p.Y882fs*8c.2643_2644insCInsertion - Frameshift
RTN4ENSG00000115310ENST00000357376p.V464fs*4c.1389delADeletion - Frameshift
NDUFAF5ENSG00000101247ENST00000378106p.K343fs*>3c.1024delADeletion - Frameshift
DSN1ENSG00000149636ENST00000373750p.G63fs*39c.183delADeletion - Frameshift
MYO18BENSG00000133454ENST00000335473p.P177fs*55c.524delCDeletion - Frameshift
PRR14LENSG00000183530ENST00000397493p.K1838fs*16c.5514delADeletion - Frameshift
MLC1ENSG00000100427ENST00000395876p.P346Pc.1038G>ASubstitution - coding silent
TMEM39AENSG00000176142ENST00000319172p.F80fs*33c.239delTDeletion - Frameshift
CCDC37ENSG00000163885ENST00000352312p.R84Wc.250C>TSubstitution - Missense
CTNNB1ENSG00000168036ENST00000349496p.R449Hc.1346G>ASubstitution - Missense
ANKRD12ENSG00000101745ENST00000262126p.K723fs*45c.2162delADeletion - Frameshift
ENST00000360228_v70p.L343fs*10c.1027delCDeletion - Frameshift
CACNA1AENSG00000141837ENST00000360228p.L343fs*10c.1027delCDeletion - Frameshift
DLL3ENSG00000090932ENST00000205143p.T549Tc.1647G>ASubstitution - coding silent
ZNF772ENSG00000197128ENST00000343280p.A410Tc.1228G>ASubstitution - Missense
GRHL1ENSG00000134317ENST00000324907p.R75fs*26c.213_214insAGInsertion - Frameshift
FAPENSG00000078098ENST00000188790p.H734Hc.2202C>TSubstitution - coding silent
FIGNENSG00000182263ENST00000333129p.K70fs*29c.210delADeletion - Frameshift
CHPFENSG00000123989ENST00000243776p.R415Cc.1243C>TSubstitution - Missense
PRTGENSG00000166450ENST00000389286p.F1056fs*30c.3167delTDeletion - Frameshift
VPS35ENSG00000069329ENST00000299138p.A703fs*2c.2106delADeletion - Frameshift
NM_025134.3p.F760fs*16c.2274delTDeletion - Frameshift
DNAJC7ENSG00000168259ENST00000457167p.N369fs*6c.1106delADeletion - Frameshift
XM_290527.3p.T411fs*23c.1223delCDeletion - Frameshift
ANKRD52ENSG00000139645ENST00000267116p.A745Tc.2233G>ASubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.C4182Cc.12546C>TSubstitution - coding silent
ENST00000456228p.N1250fs*3c.3742delADeletion - Frameshift
ENST00000456228p.N1250fs*3c.3742delADeletion - Frameshift
ZMYM2ENSG00000121741ENST00000382869p.N1250fs*3c.3742delADeletion - Frameshift
NM_014363.3p.K2784fs*22c.8352delADeletion - Frameshift
SMAD9ENSG00000120693ENST00000350148p.R94Rc.282C>TSubstitution - coding silent
ARHGEF40ENSG00000165801ENST00000298694p.H1487fs*15c.4453delCDeletion - Frameshift
FANCMENSG00000187790ENST00000267430p.V1336fs*2c.3998delADeletion - Frameshift
KCNH5ENSG00000140015ENST00000322893p.R327Hc.980G>ASubstitution - Missense
KCNH5ENSG00000140015ENST00000394968p.R269Hc.806G>ASubstitution - Missense
ROBO1ENSG00000169855ENST00000495273p.R1375*c.4123C>TSubstitution - Nonsense
MYCBP2ENSG00000005810ENST00000407578p.?c.2017+6T>CUnknown
NM_015057.1p.?c.1903+6T>CUnknown
SCELENSG00000136155ENST00000349847p.?c.1692-8T>CUnknown
POU4F1ENSG00000152192ENST00000377208p.A389Tc.1165G>ASubstitution - Missense
RBM26ENSG00000139746ENST00000267229p.L684Lc.2050T>CSubstitution - coding silent
ENST00000327303p.L711Lc.2131T>CSubstitution - coding silent
OAS1ENSG00000089127ENST00000202917p.P301Lc.902C>TSubstitution - Missense
LMO7ENSG00000136153ENST00000465261p.S706Pc.2116T>CSubstitution - Missense
FAM109AENSG00000198324ENST00000450786p.N263Dc.787A>GSubstitution - Missense
ATXN2ENSG00000204842ENST00000377617p.M1003Ic.3009G>ASubstitution - Missense
TMEM116ENSG00000198270ENST00000552374p.A14Tc.40G>ASubstitution - Missense
MVKENSG00000110921ENST00000228510p.L254Lc.760C>TSubstitution - coding silent
KLHL1ENSG00000150361ENST00000377844p.E299Ec.897A>GSubstitution - coding silent
DIS3ENSG00000083520ENST00000377767p.?c.1671-10T>CUnknown
BTBD11ENSG00000151136ENST00000280758p.N1060Kc.3180C>GSubstitution - Missense
LPAR6ENSG00000139679ENST00000345941p.A149Ac.447A>GSubstitution - coding silent
VWA8ENSG00000102763ENST00000379310p.T523Mc.1568C>TSubstitution - Missense
COG3ENSG00000136152ENST00000349995p.W554*c.1661G>ASubstitution - Nonsense
MPIENSG00000178802ENST00000352410p.P341fs*8c.1017delCDeletion - Frameshift
IMP3ENSG00000177971ENST00000314852p.E9Ec.27G>ASubstitution - coding silent
ISLR2ENSG00000167178ENST00000361742p.R120Cc.358C>TSubstitution - Missense
ISLR2ENSG00000167178ENST00000361742p.A163Ac.489G>ASubstitution - coding silent
CYP11A1ENSG00000140459ENST00000268053p.H388Yc.1162C>TSubstitution - Missense
ANKRD52ENSG00000139645ENST00000267116p.?c.2405-8G>AUnknown
SENP8ENSG00000166192ENST00000542035p.Q181Rc.542A>GSubstitution - Missense
NCKAP1LENSG00000123338ENST00000293373p.A769Tc.2305G>ASubstitution - Missense
PMELENSG00000185664ENST00000552882p.G263Ec.788G>ASubstitution - Missense
ZNF740ENSG00000139651ENST00000416904p.V87Vc.261G>ASubstitution - coding silent
ZNF740ENSG00000139651ENST00000416904p.S184Ac.550T>GSubstitution - Missense
MFSD5ENSG00000182544ENST00000329548p.R241Hc.722G>ASubstitution - Missense
MFSD5ENSG00000182544ENST00000534842p.R489Qc.1466G>ASubstitution - Missense
MFSD5ENSG00000182544ENST00000329548p.R382Qc.1145G>ASubstitution - Missense
C12orf10ENSG00000139637ENST00000267103p.A63Tc.187G>ASubstitution - Missense
AAASENSG00000094914ENST00000209873p.?c.1416+8C>AUnknown
MAP3K12ENSG00000139625ENST00000547035p.G684Dc.2051G>ASubstitution - Missense
MAP3K12ENSG00000139625ENST00000267079p.G651Dc.1952G>ASubstitution - Missense
MAP3K12ENSG00000139625ENST00000267079p.T511Tc.1533G>ASubstitution - coding silent
ECE1ENSG00000117298ENST00000374893p.P302Sc.904C>TSubstitution - Missense
ECE1ENSG00000117298ENST00000357071p.P290Sc.868C>TSubstitution - Missense
USH2AENSG00000042781ENST00000307340p.N4217Sc.12650A>GSubstitution - Missense
USH2AENSG00000042781ENST00000307340p.T2819Tc.8457C>TSubstitution - coding silent
USH2AENSG00000042781ENST00000307340p.R449Cc.1345C>TSubstitution - Missense
KRT3ENSG00000186442ENST00000417996p.?c.1570+1G>AUnknown
KRT79ENSG00000185640ENST00000330553p.G67fs*58c.200delGDeletion - Frameshift
ZNF407ENSG00000215421ENST00000582337p.K292fs*20c.871delADeletion - Frameshift
IKBKEENSG00000143466ENST00000367120p.?c.1617-7C>TUnknown
RASSF5ENSG00000136653ENST00000304534p.T67Tc.201G>ASubstitution - coding silent
ENST00000338603p.T220Tc.660G>ASubstitution - coding silent
DNAJC5BENSG00000147570ENST00000276570p.A69Tc.205G>ASubstitution - Missense
SUN2ENSG00000100242ENST00000405510p.G545Rc.1633G>ASubstitution - Missense
ENST00000391849p.V153Mc.457G>ASubstitution - Missense
SMARCC2ENSG00000139613ENST00000267064p.R119Hc.356G>ASubstitution - Missense
PRKCGENSG00000126583ENST00000263431p.?c.1373+1G>AUnknown
PA2G4ENSG00000170515ENST00000303305p.T200fs*58c.593delADeletion - Frameshift
ENST00000338885p.?c.435+4C>TUnknown
SPASTENSG00000021574ENST00000315285p.?c.502+10T>CUnknown
SMC3ENSG00000108055ENST00000361804p.Y43fs*69c.121delTDeletion - Frameshift
MARCH9ENSG00000139266ENST00000548358p.Y111Yc.333C>TSubstitution - coding silent
EDNRBENSG00000136160ENST00000377211p.Y383fs*3c.1147delTDeletion - Frameshift
UBR3ENSG00000144357ENST00000418381p.V1169fs*85c.3499delADeletion - Frameshift
ENST00000282251_v68p.R704Qc.2111G>ASubstitution - Missense
TPTEENSG00000166157ENST00000361285p.S423Lc.1268C>TSubstitution - Missense
KIAA1324LENSG00000164659ENST00000450689p.T966Mc.2897C>TSubstitution - Missense
KIAA1107ENSG00000069712ENST00000370378p.R536Cc.1606C>TSubstitution - Missense
AMBRA1ENSG00000110497ENST00000314845p.S973Sc.2919C>TSubstitution - coding silent
ZNF408ENSG00000175213ENST00000311764p.A434Vc.1301C>TSubstitution - Missense
LDLRAD3ENSG00000179241ENST00000315571p.C37Rc.109T>CSubstitution - Missense
COMMD9ENSG00000110442ENST00000263401p.R141Hc.422G>ASubstitution - Missense
B4GALNT4ENSG00000182272ENST00000329962p.R307fs*98c.918_919insGInsertion - Frameshift
TRIM21ENSG00000132109ENST00000254436p.?c.759-1G>TUnknown
ACCSLENSG00000205126ENST00000378832p.R506Hc.1517G>ASubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.G2199Rc.6595G>ASubstitution - Missense
ENST00000349637p.G2202Rc.6604G>ASubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.T3542Tc.10626A>GSubstitution - coding silent
ENST00000349637p.T3521Tc.10563A>GSubstitution - coding silent
ARHGAP32ENSG00000134909ENST00000310343p.T9Ac.25A>GSubstitution - Missense
TLL2ENSG00000095587ENST00000357947p.C851Yc.2552G>ASubstitution - Missense
UBTD1ENSG00000165886ENST00000370664p.E140fs*12c.412delCDeletion - Frameshift
MORN4ENSG00000171160ENST00000335628p.N42Nc.126T>CSubstitution - coding silent
SFRP5ENSG00000120057ENST00000266066p.A133Ac.399C>TSubstitution - coding silent
SFRP5ENSG00000120057ENST00000266066p.T104Tc.312G>ASubstitution - coding silent
ENST00000451649p.?c.781-10T>AUnknown
NUTM2DENSG00000214562ENST00000381697p.A42Vc.125C>TSubstitution - Missense
PTENENSG00000171862ENST00000371953p.A72Tc.214G>ASubstitution - Missense
KIF20BENSG00000138182ENST00000260753p.V1652Ic.4954G>ASubstitution - Missense
ENST00000328974p.N247Nc.741T>CSubstitution - coding silent
KIF11ENSG00000138160ENST00000260731p.A373fs*10c.1111delADeletion - Frameshift
NUTM2BENSG00000188199ENST00000429828p.R684*c.2050C>TSubstitution - Nonsense
NRG3ENSG00000185737ENST00000372142p.?c.60+3A>GUnknown
CDHR1ENSG00000148600ENST00000372117p.G216Sc.646G>ASubstitution - Missense
CDHR1ENSG00000148600ENST00000332904p.G216Sc.646G>ASubstitution - Missense
LDB3ENSG00000122367ENST00000361373p.G54Gc.162C>TSubstitution - coding silent
LDB3ENSG00000122367ENST00000372056p.G54Gc.162C>TSubstitution - coding silent
POLR3AENSG00000148606ENST00000372371p.D905Yc.2713G>TSubstitution - Missense
TAF3ENSG00000165632ENST00000344293p.K688fs*9c.2060delADeletion - Frameshift
GATA3ENSG00000107485ENST00000379328p.R277*c.829C>TSubstitution - Nonsense
MSS51ENSG00000166343ENST00000372912p.H107Qc.321C>ASubstitution - Missense
ZSWIM8ENSG00000214655ENST00000398706p.P689fs*46c.2061delCDeletion - Frameshift
ZSWIM8ENSG00000214655ENST00000398706p.P69fs*46c.201delCDeletion - Frameshift
PLAUENSG00000122861ENST00000372764p.Q296Hc.888G>TSubstitution - Missense
H3F3AENSG00000163041ENST00000366813p.K28Rc.83A>GSubstitution - Missense
ITPKBENSG00000143772ENST00000429204p.I154Ic.462C>ASubstitution - coding silent
JMJD4ENSG00000081692ENST00000366758p.V331Ac.992T>CSubstitution - Missense
AIDAENSG00000186063ENST00000340020p.P268Hc.803C>ASubstitution - Missense
CELA3BENSG00000219073ENST00000337107p.?c.363-2A>CUnknown
CELA3BENSG00000219073ENST00000374666p.?c.411-2A>CUnknown
SPATA17ENSG00000162814ENST00000366933p.R224Cc.670C>TSubstitution - Missense
RAP1GAPENSG00000076864ENST00000374765p.L349fs*18c.1045delCDeletion - Frameshift
RAP1GAPENSG00000076864ENST00000374765p.A310Tc.928G>ASubstitution - Missense
DIP2CENSG00000151240ENST00000280886p.A950Tc.2848G>ASubstitution - Missense
ENST00000426433p.T199Ac.595A>GSubstitution - Missense
ENST00000345581p.T166Ac.496A>GSubstitution - Missense
ENST00000426433p.?c.298+2T>CUnknown
ENST00000345581p.?c.199+2T>CUnknown
CXCL12ENSG00000107562ENST00000395794p.Y82Cc.245A>GSubstitution - Missense
CXCL12ENSG00000107562ENST00000374426p.Y82Cc.245A>GSubstitution - Missense
CXCL12ENSG00000107562ENST00000374429p.Y82Cc.245A>GSubstitution - Missense
ZFAND4ENSG00000172671ENST00000344646p.L624fs*8c.1871delTDeletion - Frameshift
ARHGAP12ENSG00000165322ENST00000344936p.?c.1448+9A>TUnknown
CUL2ENSG00000108094ENST00000374751p.T260Ac.778A>GSubstitution - Missense
CREMENSG00000095794ENST00000395887p.V203Vc.609G>TSubstitution - coding silent
CCNYENSG00000108100ENST00000374706p.T65Ac.193A>GSubstitution - Missense
KLF6ENSG00000067082ENST00000497571p.S84Nc.251G>ASubstitution - Missense
DNAJC3ENSG00000102580ENST00000376795p.A214Vc.641C>TSubstitution - Missense
FARP1ENSG00000152767ENST00000319562p.V785Ic.2353G>ASubstitution - Missense
ENST00000357329p.S696Sc.2088C>TSubstitution - coding silent
DOCK9ENSG00000088387ENST00000339416p.S696Sc.2088C>TSubstitution - coding silent
DOCK9ENSG00000088387ENST00000448493p.S707Sc.2121C>TSubstitution - coding silent
KRT6AENSG00000205420ENST00000330722p.R24Rc.72G>ASubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.T1496Tc.4488A>GSubstitution - coding silent
BCDIN3DENSG00000186666ENST00000333924p.L50Lc.150G>TSubstitution - coding silent
FAIM2ENSG00000135472ENST00000320634p.R281Cc.841C>TSubstitution - Missense
LARP4ENSG00000161813ENST00000398473p.R133Qc.398G>ASubstitution - Missense
DIP2BENSG00000066084ENST00000301180p.D1387Ec.4161C>GSubstitution - Missense
KCNA5ENSG00000130037ENST00000252321p.P149Pc.447C>TSubstitution - coding silent
KCNJ8ENSG00000121361ENST00000240662p.S108fs*14c.322delADeletion - Frameshift
ABCC9ENSG00000069431ENST00000261200p.T1257Mc.3770C>TSubstitution - Missense
KCNA6ENSG00000151079ENST00000280684p.G329Sc.985G>ASubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.I5502Ic.16506C>TSubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.L4049_A4050ins*c.12147_12148insTGAInsertion - In frame
KMT2DENSG00000167548ENST00000301067p.L3779_A3780ins*c.11337_11338insTGAInsertion - In frame
PLEKHA5ENSG00000052126ENST00000429027p.P924fs*51c.2766delCDeletion - Frameshift
SLCO1B7ENSG00000205754ENST00000421593p.F626Fc.1878C>TSubstitution - coding silent
GOLGA3ENSG00000090615ENST00000456883p.L1121Rc.3362T>GSubstitution - Missense
ZNF605ENSG00000196458ENST00000360187p.R483Mc.1448G>TSubstitution - Missense
GUCY2CENSG00000070019ENST00000261170p.V449Ic.1345G>ASubstitution - Missense
MGST1ENSG00000008394ENST00000396207p.Y62Fc.185A>TSubstitution - Missense
LYSTENSG00000143669ENST00000389793p.V337Ac.1010T>CSubstitution - Missense
GPR137BENSG00000077585ENST00000366592p.T200Tc.600G>ASubstitution - coding silent
NTPCRENSG00000135778ENST00000366627p.R210Sc.630G>TSubstitution - Missense
PCNXL2ENSG00000135749ENST00000258229p.S492Sc.1476G>ASubstitution - coding silent
PCNXL2ENSG00000135749ENST00000258229p.V271Ic.811G>ASubstitution - Missense
KCNK1ENSG00000135750ENST00000366621p.T113Tc.339C>TSubstitution - coding silent
ACTA1ENSG00000143632ENST00000366684p.R337Cc.1009C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.L7512Lc.22536C>TSubstitution - coding silent
C12orf50ENSG00000165805ENST00000298699p.K22Rc.65A>GSubstitution - Missense
NECAP1ENSG00000089818ENST00000339754p.P190Pc.570G>ASubstitution - coding silent
LRRIQ1ENSG00000133640ENST00000393217p.L1581Lc.4741T>CSubstitution - coding silent
MON2ENSG00000061987ENST00000393632p.G719Gc.2157C>TSubstitution - coding silent
MON2ENSG00000061987ENST00000393632p.A1107Tc.3319G>ASubstitution - Missense
GNSENSG00000135677ENST00000258145p.P526Pc.1578C>TSubstitution - coding silent
TBC1D30ENSG00000111490ENST00000229088p.S642Rc.1924A>CSubstitution - Missense
HMGA2ENSG00000149948ENST00000403681p.E108*c.322G>TSubstitution - Nonsense
NCAPD2ENSG00000010292ENST00000315579p.R1072Qc.3215G>ASubstitution - Missense
E2F7ENSG00000165891ENST00000322886p.T872Tc.2616G>ASubstitution - coding silent
E2F7ENSG00000165891ENST00000322886p.T872Tc.2616G>ASubstitution - coding silent
NM_014903.3p.H36Yc.106C>TSubstitution - Missense
AGAP2ENSG00000135439ENST00000547588p.T884Mc.2651C>TSubstitution - Missense
AGAP2ENSG00000135439ENST00000257897p.T528Mc.1583C>TSubstitution - Missense
SLC16A7ENSG00000118596ENST00000261187p.F262fs*39c.780delTDeletion - Frameshift
NACAENSG00000196531ENST00000550952p.Y350Hc.1048T>CSubstitution - Missense
NACAENSG00000196531ENST00000454682p.Y350Hc.1048T>CSubstitution - Missense
TMEM194AENSG00000166881ENST00000300128p.C176fs*5c.526delTDeletion - Frameshift
NAB2ENSG00000166886ENST00000300131p.P211fs*58c.626delCDeletion - Frameshift
R3HDM2ENSG00000179912ENST00000441731p.?c.387+7A>GUnknown
INHBCENSG00000175189ENST00000309668p.T147Ac.439A>GSubstitution - Missense
OR6K2ENSG00000196171ENST00000359610p.R262Cc.784C>TSubstitution - Missense
NACAENSG00000196531ENST00000454682p.S1857Sc.5571G>ASubstitution - coding silent
NTRK1ENSG00000198400ENST00000524377p.R574Cc.1720C>TSubstitution - Missense
NTRK1ENSG00000198400ENST00000392302p.R538Cc.1612C>TSubstitution - Missense
ARHGEF11ENSG00000132694ENST00000368194p.R195Cc.583C>TSubstitution - Missense
FCRL5ENSG00000143297ENST00000361835p.A821Ac.2463C>TSubstitution - coding silent
CELA2BENSG00000215704ENST00000375910p.?c.792+7A>GUnknown
CDK11BENSG00000248333ENST00000407249p.G80Gc.240C>TSubstitution - coding silent
LMNAENSG00000160789ENST00000368300p.S662Ic.1985G>TSubstitution - Missense
PAQR6ENSG00000160781ENST00000292291p.C100Yc.299G>ASubstitution - Missense
SMG5ENSG00000198952ENST00000361813p.P409Lc.1226C>TSubstitution - Missense
MIB2ENSG00000197530ENST00000355826p.?c.2738-4G>AUnknown
GPATCH4ENSG00000160818ENST00000368232p.K205fs*73c.614delADeletion - Frameshift
MRPL24ENSG00000143314ENST00000368211p.M102Ic.306G>TSubstitution - Missense
ACP2ENSG00000134575ENST00000256997p.R129Cc.385C>TSubstitution - Missense
OR51S1ENSG00000176922ENST00000322101p.P292Sc.874C>TSubstitution - Missense
RCE1ENSG00000173653ENST00000309657p.L254Pc.761T>CSubstitution - Missense
AHNAKENSG00000124942ENST00000378024p.V4170Vc.12510G>TSubstitution - coding silent
TUT1ENSG00000149016ENST00000308436p.S362Sc.1086G>ASubstitution - coding silent
TUT1ENSG00000149016ENST00000278279p.S324Sc.972G>ASubstitution - coding silent
EML3ENSG00000149499ENST00000394773p.?c.1656+8C>TUnknown
SLC15A3ENSG00000110446ENST00000227880p.Q364Hc.1092G>TSubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.V1244fs*7c.3723_3724insCInsertion - Frameshift
DAGLAENSG00000134780ENST00000257215p.R82Cc.244C>TSubstitution - Missense
DAGLAENSG00000134780ENST00000257215p.C619*c.1857C>ASubstitution - Nonsense
DAGLAENSG00000134780ENST00000257215p.R901Cc.2701C>TSubstitution - Missense
OR52B1PENSG00000180909ENST00000316506p.T21Tc.63C>ASubstitution - coding silent
PHRF1ENSG00000070047ENST00000416188p.A312Tc.934G>ASubstitution - Missense
MS4A14ENSG00000166928ENST00000300187p.G112Sc.334G>ASubstitution - Missense
MS4A8ENSG00000166959ENST00000300226p.C211*c.633C>ASubstitution - Nonsense
DHRS1ENSG00000157379ENST00000396813p.R80Gc.238C>GSubstitution - Missense
LTB4RENSG00000213903ENST00000396782p.S84Sc.252T>CSubstitution - coding silent
ADCY4ENSG00000129467ENST00000310677p.M297Tc.890T>CSubstitution - Missense
CPNE6ENSG00000100884ENST00000397016p.F81fs*49c.237delTDeletion - Frameshift
CDH24ENSG00000139880ENST00000397359p.S250Sc.750C>TSubstitution - coding silent
CDH24ENSG00000139880ENST00000487137p.S250Sc.750C>TSubstitution - coding silent
HOMEZENSG00000215271ENST00000357460p.E390Ec.1170A>GSubstitution - coding silent
HOMEZENSG00000215271ENST00000357460p.E366Ec.1098A>GSubstitution - coding silent
PABPN1ENSG00000100836ENST00000216727p.Y303Yc.909T>CSubstitution - coding silent
ARHGEF40ENSG00000165801ENST00000298694p.?c.2641-5C>TUnknown
SALL2ENSG00000165821ENST00000327430p.T157Ac.469A>GSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.A3948Vc.11843C>TSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.D3020fs*2c.9058delGDeletion - Frameshift
INF2ENSG00000203485ENST00000252527p.S388Sc.1164C>TSubstitution - coding silent
INF2ENSG00000203485ENST00000392634p.S1118Sc.3354C>TSubstitution - coding silent
ADSSL1ENSG00000185100ENST00000332972p.C382Yc.1145G>ASubstitution - Missense
CEP170BENSG00000099814ENST00000414716p.D1272Dc.3816T>CSubstitution - coding silent
KNDC1ENSG00000171798ENST00000304613p.A1718Tc.5152G>ASubstitution - Missense
PAOXENSG00000148832ENST00000278060p.?c.1234+6T>CUnknown
PAOXENSG00000148832ENST00000357296p.?c.1234+6T>CUnknown
EXOC3L4ENSG00000205436ENST00000380069p.A26Pc.76G>CSubstitution - Missense
TNFAIP2ENSG00000185215ENST00000333007p.P579Hc.1736C>ASubstitution - Missense
DPYSL4ENSG00000151640ENST00000338492p.?c.1462-6C>TUnknown
ENST00000305220p.Q80Rc.239A>GSubstitution - Missense
C10orf90ENSG00000154493ENST00000284694p.V256Ac.767T>CSubstitution - Missense
NM_001380.2p.R322Wc.964C>TSubstitution - Missense
NM_001380.2p.C1404*c.4212C>ASubstitution - Nonsense
CCDC3ENSG00000151468ENST00000378825p.A251Tc.751G>ASubstitution - Missense
ENST00000361282p.A41Tc.121G>ASubstitution - Missense
EDRF1ENSG00000107938ENST00000337623p.S144Nc.431G>ASubstitution - Missense
BCCIPENSG00000107949ENST00000299130p.V287Ac.860T>CSubstitution - Missense
XM_290527.3p.E476Vc.1427A>TSubstitution - Missense
OR5P2ENSG00000183303ENST00000329434p.S235Fc.704C>TSubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.G1655fs*9c.4964delGDeletion - Frameshift
TENM4ENSG00000149256ENST00000278550p.G1655fs*9c.4964delGDeletion - Frameshift
CAPN5ENSG00000149260ENST00000278559p.A245Ac.735G>ASubstitution - coding silent
USP35ENSG00000118369ENST00000529308p.E720Vc.2159A>TSubstitution - Missense
EPS8L2ENSG00000177106ENST00000318562p.A74Dc.221C>ASubstitution - Missense
HAPLN3ENSG00000140511ENST00000359595p.T221Mc.662C>TSubstitution - Missense
FANCIENSG00000140525ENST00000300027p.I658Mc.1974C>GSubstitution - Missense
POLGENSG00000140521ENST00000268124p.G871Gc.2613C>TSubstitution - coding silent
TICRRENSG00000140534ENST00000268138p.P1851Pc.5553G>ASubstitution - coding silent
KIF7ENSG00000166813ENST00000394412p.S857Rc.2571C>GSubstitution - Missense
KIF7ENSG00000166813ENST00000394412p.R809Qc.2426G>ASubstitution - Missense
ENST00000300053p.R296Qc.887G>ASubstitution - Missense
DET1ENSG00000140543ENST00000564406p.R328Mc.983G>TSubstitution - Missense
ENST00000268134p.S142Sc.426C>TSubstitution - coding silent
ACANENSG00000157766ENST00000439576p.S142Sc.426C>TSubstitution - coding silent
TMC3ENSG00000188869ENST00000359440p.R1033Rc.3099G>ASubstitution - coding silent
GALNT6ENSG00000139629ENST00000356317p.K310Kc.930G>ASubstitution - coding silent
NM_000655.2p.P47Lc.140C>TSubstitution - Missense
C1orf112ENSG00000000460ENST00000286031p.?c.313-8G>AUnknown
NBEAENSG00000172915ENST00000310336p.E2539Gc.7616A>GSubstitution - Missense
SMAD9ENSG00000120693ENST00000350148p.T287Tc.861G>ASubstitution - coding silent
POSTNENSG00000133110ENST00000379747p.S826Fc.2477C>TSubstitution - Missense
POSTNENSG00000133110ENST00000379747p.V823fs*8c.2466delADeletion - Frameshift
POSTNENSG00000133110ENST00000379747p.I584Tc.1751T>CSubstitution - Missense
MTMR6ENSG00000139505ENST00000381801p.W458Lc.1373G>TSubstitution - Missense
WASF3ENSG00000132970ENST00000361042p.P304fs*28c.904delCDeletion - Frameshift
ZAR1LENSG00000189167ENST00000345108p.R213Rc.637C>ASubstitution - coding silent
PCED1BENSG00000179715ENST00000546455p.P155Pc.465C>TSubstitution - coding silent
SENP1ENSG00000079387ENST00000448372p.H218Yc.652C>TSubstitution - Missense
SLC38A1ENSG00000111371ENST00000398637p.M307fs*18c.919delADeletion - Frameshift
SU_DYRK4p.F824fs*61c.2467delTDeletion - Frameshift
CEP57ENSG00000166037ENST00000325542p.L313Lc.939A>GSubstitution - coding silent
ANKS1BENSG00000185046ENST00000547776p.R260Rc.780A>GSubstitution - coding silent
SFR1ENSG00000156384ENST00000369729p.A196Dc.587C>ASubstitution - Missense
XPNPEP1ENSG00000108039ENST00000369680p.R49Wc.145C>TSubstitution - Missense
HEPHL1ENSG00000181333ENST00000315765p.M703Tc.2108T>CSubstitution - Missense
PANX1ENSG00000110218ENST00000227638p.D256Gc.767A>GSubstitution - Missense
PPRC1ENSG00000148840ENST00000278070p.G704fs*30c.2106delGDeletion - Frameshift
TRIM8ENSG00000171206ENST00000302424p.S544Pc.1630T>CSubstitution - Missense
SFXN2ENSG00000156398ENST00000369893p.?c.432-4C>AUnknown
CNNM2ENSG00000148842ENST00000369878p.N425Nc.1275C>TSubstitution - coding silent
CPN1ENSG00000120054ENST00000370418p.L354Lc.1062C>TSubstitution - coding silent
SEMA4GENSG00000095539ENST00000210633p.R124Qc.371G>ASubstitution - Missense
WDR11ENSG00000120008ENST00000263461p.N480fs*15c.1433_1434insAInsertion - Frameshift
AFAP1L2ENSG00000169129ENST00000304129p.C36fs*1c.106_107insAGCTInsertion - Frameshift
ENST00000541919p.C54fs*1c.160_161insAGCTInsertion - Frameshift
PNLIPENSG00000175535ENST00000369221p.T335fs*10c.1000delADeletion - Frameshift
AHCTF1ENSG00000153207ENST00000391829p.T29Tc.87A>GSubstitution - coding silent
ZNF496ENSG00000162714ENST00000294753p.A54Vc.161C>TSubstitution - Missense
PDCD4ENSG00000150593ENST00000280154p.A204Vc.611C>TSubstitution - Missense
ADRA2AENSG00000150594ENST00000280155p.G245fs*82c.729delGDeletion - Frameshift
NRAPENSG00000197893ENST00000359988p.V364Ic.1090G>ASubstitution - Missense
CEP170ENSG00000143702ENST00000366543p.K638Nc.1914G>TSubstitution - Missense
KIF26BENSG00000162849ENST00000407071p.G326Rc.976G>ASubstitution - Missense
KIF26BENSG00000162849ENST00000407071p.S1249Sc.3747C>TSubstitution - coding silent
SCCPDHENSG00000143653ENST00000366510p.R103Qc.308G>ASubstitution - Missense
PNRC2ENSG00000189266ENST00000334351p.V17Vc.51T>ASubstitution - coding silent
CEP170ENSG00000143702ENST00000366543p.R1133Hc.3398G>ASubstitution - Missense
ITGBL1ENSG00000198542ENST00000376180p.C288Cc.864T>CSubstitution - coding silent
ASAP3ENSG00000088280ENST00000336689p.F540Lc.1618T>CSubstitution - Missense
ASAP3ENSG00000088280ENST00000336689p.L348Lc.1044G>ASubstitution - coding silent
RYR2ENSG00000198626ENST00000366574p.M1300Vc.3898A>GSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.R1760Wc.5278C>TSubstitution - Missense
E2F2ENSG00000007968ENST00000361729p.R183Hc.548G>ASubstitution - Missense
RPL11ENSG00000142676ENST00000374550p.R90Qc.269G>ASubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.P771Qc.2312C>ASubstitution - Missense
NDUFA12ENSG00000184752ENST00000327772p.V125Vc.375A>GSubstitution - coding silent
FGD6ENSG00000180263ENST00000343958p.R1002Hc.3005G>ASubstitution - Missense
TM9SF2ENSG00000125304ENST00000376387p.S515Sc.1545G>ASubstitution - coding silent
KRTAP5-11ENSG00000204571ENST00000398530p.G16fs*>141c.47delGDeletion - Frameshift
A2MENSG00000175899ENST00000318602p.V221Mc.661G>ASubstitution - Missense
IGHMBP2ENSG00000132740ENST00000255078p.A383Ac.1149G>ASubstitution - coding silent
ORAOV1ENSG00000149716ENST00000279147p.G134*c.400G>TSubstitution - Nonsense
CTTNENSG00000085733ENST00000301843p.H296Hc.888C>TSubstitution - coding silent
CTTNENSG00000085733ENST00000301843p.H296Hc.888C>TSubstitution - coding silent
RPS6KB2ENSG00000175634ENST00000312629p.?c.240+9G>TUnknown
RPS6KB2ENSG00000175634ENST00000312629p.?c.240+9G>TUnknown
RPS6KB2ENSG00000175634ENST00000312629p.?c.616+4C>TUnknown
LRP5ENSG00000162337ENST00000294304p.?c.1016-10G>AUnknown
SLC29A2ENSG00000174669ENST00000357440p.L258Lc.772C>TSubstitution - coding silent
DCHS1ENSG00000166341ENST00000299441p.R2244Qc.6731G>ASubstitution - Missense
NM_005933.1p.R644Hc.1931G>ASubstitution - Missense
ZW10ENSG00000086827ENST00000200135p.R562Rc.1686T>CSubstitution - coding silent
NXPE1ENSG00000095110ENST00000251921p.T237Ac.709A>GSubstitution - Missense
ZNF259ENSG00000109917ENST00000227322p.A285Ac.855T>CSubstitution - coding silent
SU_QSKp.L394Lc.1182C>TSubstitution - coding silent
TIMM8BENSG00000150779ENST00000541231p.G97Vc.290G>TSubstitution - Missense
LPCAT3ENSG00000111684ENST00000261407p.S168Pc.502T>CSubstitution - Missense
LPCAT3ENSG00000111684ENST00000261407p.M107Ic.321G>ASubstitution - Missense
RAB21ENSG00000080371ENST00000261263p.L70Pc.209T>CSubstitution - Missense
CLSTN3ENSG00000139182ENST00000266546p.D581fs*16c.1737delGDeletion - Frameshift
ENST00000396725_v65p.A584Vc.1751C>TSubstitution - Missense
LEPREL2ENSG00000110811ENST00000396725p.A400Vc.1199C>TSubstitution - Missense
ATN1ENSG00000111676ENST00000396684p.S50Yc.149C>ASubstitution - Missense
ATN1ENSG00000111676ENST00000396684p.R157Hc.470G>ASubstitution - Missense
RGL1ENSG00000143344ENST00000304685p.K618fs*25c.1847delADeletion - Frameshift
CHD4ENSG00000111642ENST00000357008p.R1068Hc.3203G>ASubstitution - Missense
CHD4ENSG00000111642ENST00000309577p.R1068Hc.3203G>ASubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.R214Mc.641G>TSubstitution - Missense
ACTL8ENSG00000117148ENST00000375406p.R50Hc.149G>ASubstitution - Missense
PAPPA2ENSG00000116183ENST00000367662p.V1333Ac.3998T>CSubstitution - Missense
SEC16BENSG00000120341ENST00000308284p.S297Fc.890C>TSubstitution - Missense
ANGPTL1ENSG00000116194ENST00000367629p.G458Dc.1373G>ASubstitution - Missense
TSG101ENSG00000074319ENST00000251968p.R368Hc.1103G>ASubstitution - Missense
UEVLDENSG00000151116ENST00000396197p.G100Gc.300A>GSubstitution - coding silent
CYP2R1ENSG00000186104ENST00000334636p.G334Vc.1001G>TSubstitution - Missense
CALCAENSG00000110680ENST00000331587p.E73fs*15c.216_219delAGAGDeletion - Frameshift
NTMENSG00000182667ENST00000374791p.M8fs*38c.18delADeletion - Frameshift
NTMENSG00000182667ENST00000539799p.M8fs*38c.18delADeletion - Frameshift
FCGR3BENSG00000162747ENST00000294800p.G168Dc.503G>ASubstitution - Missense
SPENENSG00000065526ENST00000375759p.A2721Ac.8163C>ASubstitution - coding silent
APBA2ENSG00000034053ENST00000561069p.A57Ac.171G>ASubstitution - coding silent
MKRN3ENSG00000179455ENST00000314520p.I341Tc.1022T>CSubstitution - Missense
UBE3AENSG00000114062ENST00000397954p.P402Hc.1205C>ASubstitution - Missense
NM_004667.3p.M3422Ic.10266G>ASubstitution - Missense
NM_004667.3p.S542Sc.1626C>TSubstitution - coding silent
AGO1ENSG00000092847ENST00000373204p.R436Lc.1307G>TSubstitution - Missense
AGO3ENSG00000126070ENST00000373191p.?c.312+1_312+2insGUnknown
AGO3ENSG00000126070ENST00000373191p.Y323Cc.968A>GSubstitution - Missense
MAP7D1ENSG00000116871ENST00000373151p.A142Tc.424G>ASubstitution - Missense
GRIK3ENSG00000163873ENST00000373091p.T769Tc.2307G>ASubstitution - coding silent
CEP104ENSG00000116198ENST00000378230p.A269Sc.805G>TSubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.N2581Sc.7742A>GSubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.N2579Sc.7736A>GSubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.R285*c.853C>TSubstitution - Nonsense
CSMD2ENSG00000121904ENST00000373381p.R325*c.973C>TSubstitution - Nonsense
ENST00000314607_v71p.?c.925+7A>GUnknown
ARHGEF16ENSG00000130762ENST00000378378p.?c.635-8C>GUnknown
ARHGEF16ENSG00000130762ENST00000378378p.R408Wc.1222C>TSubstitution - Missense
NM_014448.2p.R120Wc.358C>TSubstitution - Missense
PTPRUENSG00000060656ENST00000460170p.P621Sc.1861C>TSubstitution - Missense
PTPRUENSG00000060656ENST00000460170p.P621Sc.1861C>TSubstitution - Missense
NKAIN1ENSG00000084628ENST00000263693p.H87Rc.260A>GSubstitution - Missense
NKAIN1ENSG00000084628ENST00000373736p.H131Rc.392A>GSubstitution - Missense
ZCCHC17ENSG00000121766ENST00000373714p.A168Tc.502G>ASubstitution - Missense
ZCCHC17ENSG00000121766ENST00000422613p.A170Tc.508G>ASubstitution - Missense
BAI2ENSG00000121753ENST00000373658p.?c.2496-5C>TUnknown
CROCCENSG00000058453ENST00000375541p.A477Tc.1429G>ASubstitution - Missense
TNNENSG00000120332ENST00000239462p.V598Vc.1794G>ASubstitution - coding silent
TNNENSG00000120332ENST00000239462p.T941Tc.2823G>ASubstitution - coding silent
BLZF1ENSG00000117475ENST00000367808p.S37Sc.111C>TSubstitution - coding silent
NADKENSG00000008130ENST00000341991p.R63Hc.188G>ASubstitution - Missense
CCDC181ENSG00000117477ENST00000367805p.K11Rc.32A>GSubstitution - Missense
F5ENSG00000198734ENST00000367797p.E351Kc.1051G>ASubstitution - Missense
F5ENSG00000198734ENST00000367797p.V19Ac.56T>CSubstitution - Missense
CDH23ENSG00000107736ENST00000461841p.R229Rc.687C>TSubstitution - coding silent
RUFY2ENSG00000204130ENST00000388768p.P641Pc.1923C>ASubstitution - coding silent
TET1ENSG00000138336ENST00000373644p.R2043Cc.6127C>TSubstitution - Missense
ZNF365ENSG00000138311ENST00000410046p.R216Wc.646C>TSubstitution - Missense
JMJD1CENSG00000171988ENST00000402544p.R853Cc.2557C>TSubstitution - Missense
ANK3ENSG00000151150ENST00000355288p.?c.140+3A>GUnknown
CALML5ENSG00000178372ENST00000380332p.A35Ac.105G>ASubstitution - coding silent
ENST00000426033p.?c.7629+7T>CUnknown
ERCC6ENSG00000225830ENST00000355832p.H1477Rc.4430A>GSubstitution - Missense
SLC18A3ENSG00000187714ENST00000374115p.G68Sc.202G>ASubstitution - Missense
PARNENSG00000140694ENST00000437198p.A344Vc.1031C>TSubstitution - Missense
PARNENSG00000140694ENST00000437198p.A344Vc.1031C>TSubstitution - Missense
TSR3ENSG00000007520ENST00000007390p.L195Fc.585G>TSubstitution - Missense
SNRNP25ENSG00000161981ENST00000383018p.R113*c.337C>TSubstitution - Nonsense
RHBDF1ENSG00000007384ENST00000262316p.V422Mc.1264G>ASubstitution - Missense
RHBDF1ENSG00000007384ENST00000262316p.?c.673-8G>AUnknown
ANGEL1ENSG00000013523ENST00000251089p.P385Lc.1154C>TSubstitution - Missense
TMEM63CENSG00000165548ENST00000298351p.A330Ac.990C>TSubstitution - coding silent
TMEM63CENSG00000165548ENST00000298351p.S372Sc.1116C>ASubstitution - coding silent
ISM2ENSG00000100593ENST00000342219p.?c.627+10A>GUnknown
IQGAP1ENSG00000140575ENST00000268182p.Y1095Hc.3283T>CSubstitution - Missense
MLH3ENSG00000119684ENST00000355774p.K729Nc.2187A>TSubstitution - Missense
FLVCR2ENSG00000119686ENST00000238667p.Y116Yc.348C>TSubstitution - coding silent
PAPLNENSG00000100767ENST00000340738p.R1096*c.3286C>TSubstitution - Nonsense
PTCHD3ENSG00000182077ENST00000438700p.D699Vc.2096A>TSubstitution - Missense
MKXENSG00000150051ENST00000375790p.M112Ic.336G>ASubstitution - Missense
SPAG6ENSG00000077327ENST00000376603p.A479fs*2c.1429delADeletion - Frameshift
ARMC3ENSG00000165309ENST00000298032p.A467Vc.1400C>TSubstitution - Missense
NM_020824.2p.V632Ic.1894G>ASubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.?c.5197+2T>CUnknown
DCLRE1CENSG00000152457ENST00000378278p.I614Vc.1840A>GSubstitution - Missense
DCLRE1CENSG00000152457ENST00000378246p.I499Vc.1495A>GSubstitution - Missense
DCLRE1CENSG00000152457ENST00000378246p.?c.3_10delGAAGCATCUnknown
DCLRE1CENSG00000152457ENST00000378289p.E98fs*28c.292_299delGAAGCATCDeletion - Frameshift
TBL3ENSG00000183751ENST00000568546p.A158Tc.472G>ASubstitution - Missense
TBL3ENSG00000183751ENST00000568546p.A193Tc.577G>ASubstitution - Missense
DCUN1D3ENSG00000188215ENST00000324344p.R198Qc.593G>ASubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.?c.5197+2T>CUnknown
ABCC6ENSG00000091262ENST00000205557p.V37Fc.109G>TSubstitution - Missense
PTPRCENSG00000081237ENST00000442510p.H555fs*23c.1659delTDeletion - Frameshift
NOMO1ENSG00000103512ENST00000287667p.R611Cc.1831C>TSubstitution - Missense
PTX4ENSG00000251692ENST00000293922p.N66Nc.198C>TSubstitution - coding silent
C16orf45ENSG00000166780ENST00000300006p.T106fs*11c.311delADeletion - Frameshift
KIAA0430ENSG00000166783ENST00000396368p.A564Tc.1690G>ASubstitution - Missense
TMEM204ENSG00000131634ENST00000253934p.A70Tc.208G>ASubstitution - Missense
PQLC2ENSG00000040487ENST00000375155p.F185Fc.555C>TSubstitution - coding silent
CFHR2ENSG00000080910ENST00000367415p.I219fs*16c.655_656delATDeletion - Frameshift
F13BENSG00000143278ENST00000367412p.C396Yc.1187G>ASubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.R555Rc.1663A>CSubstitution - coding silent
ST7LENSG00000007341ENST00000358039p.T193Ac.577A>GSubstitution - Missense
MTORENSG00000198793ENST00000361445p.Q188*c.562C>TSubstitution - Nonsense
GPR61ENSG00000156097ENST00000404129p.R233*c.697C>TSubstitution - Nonsense
GSTM1ENSG00000134184ENST00000309851p.P61Sc.181C>TSubstitution - Missense
EPS8L3ENSG00000198758ENST00000369805p.L568Lc.1702C>TSubstitution - coding silent
PRMT6ENSG00000198890ENST00000361318p.E243Vc.728A>TSubstitution - Missense
SLC25A24ENSG00000085491ENST00000565488p.S249Sc.747G>ASubstitution - coding silent
ELP4ENSG00000109911ENST00000350638p.S404Sc.1212C>TSubstitution - coding silent
QSER1ENSG00000060749ENST00000399302p.V1034Mc.3100G>ASubstitution - Missense
DEPDC7ENSG00000121690ENST00000241051p.K54fs*6c.157delADeletion - Frameshift
PRMT3ENSG00000185238ENST00000331079p.T449Mc.1346C>TSubstitution - Missense
CASP4ENSG00000196954ENST00000444739p.?c.925+1G>AUnknown
SLC37A4ENSG00000137700ENST00000330775p.L303Lc.907T>CSubstitution - coding silent
NM_000926.2p.E327Gc.980A>GSubstitution - Missense
KMT2AENSG00000118058ENST00000534358p.R644Hc.1931G>ASubstitution - Missense
ACOT11ENSG00000162390ENST00000343744p.F292Cc.875T>GSubstitution - Missense
SLC12A1ENSG00000074803ENST00000380993p.L739Fc.2215C>TSubstitution - Missense
MMACHCENSG00000132763ENST00000401061p.A228Vc.683C>TSubstitution - Missense
CCDC17ENSG00000159588ENST00000343901p.?c.990+3T>CUnknown
DUOX1ENSG00000137857ENST00000389037p.M1096Tc.3287T>CSubstitution - Missense
PLA2G4DENSG00000159337ENST00000290472p.E184Ec.552G>ASubstitution - coding silent
TMEM87AENSG00000103978ENST00000389834p.R436Qc.1307G>ASubstitution - Missense
CAPN3ENSG00000092529ENST00000357568p.R437Cc.1309C>TSubstitution - Missense
ENST00000300167p.P457Hc.1370C>ASubstitution - Missense
DUSP27ENSG00000198842ENST00000361200p.P714fs*17c.2136delGDeletion - Frameshift
DUSP27ENSG00000198842ENST00000361200p.E1108Ec.3324A>GSubstitution - coding silent
NADKENSG00000008130ENST00000344463p.A377Tc.1129G>ASubstitution - Missense
NADKENSG00000008130ENST00000342348p.A200Tc.598G>ASubstitution - Missense
ENST00000357301p.P4Lc.11C>TSubstitution - Missense
PLA2G4EENSG00000188089ENST00000413860p.Q579*c.1735C>TSubstitution - Nonsense
PLA2G4EENSG00000188089ENST00000413860p.T137Ac.409A>GSubstitution - Missense
RORCENSG00000143365ENST00000392697p.R527Wc.1579C>TSubstitution - Missense
THEM5ENSG00000196407ENST00000368817p.A56Dc.167C>ASubstitution - Missense
TCHHENSG00000159450ENST00000368804p.Q1714Qc.5142G>ASubstitution - coding silent
TCHHENSG00000159450ENST00000368804p.E1006Gc.3017A>GSubstitution - Missense
GOLPH3LENSG00000143457ENST00000271732p.H6Rc.17A>GSubstitution - Missense
HORMAD1ENSG00000143452ENST00000361824p.S21Sc.63A>GSubstitution - coding silent
SETDB1ENSG00000143379ENST00000271640p.Q930Hc.2790G>TSubstitution - Missense
ZNF687ENSG00000143373ENST00000324048p.R534Hc.1601G>ASubstitution - Missense
CGNENSG00000143375ENST00000271636p.?c.2905-6T>CUnknown
PRAMEF1ENSG00000116721ENST00000332296p.A114Ac.342C>ASubstitution - coding silent
PRPF3ENSG00000117360ENST00000324862p.I338Vc.1012A>GSubstitution - Missense
ENSAENSG00000143420ENST00000513281p.Q58Qc.174A>GSubstitution - coding silent
HAO2ENSG00000116882ENST00000325945p.R166*c.496C>TSubstitution - Nonsense
PLOD1ENSG00000083444ENST00000196061p.V124fs*103c.369delGDeletion - Frameshift
TNFRSF8ENSG00000120949ENST00000263932p.R104Cc.310C>TSubstitution - Missense
SCNN1DENSG00000162572ENST00000338555p.F185fs*12c.547delCDeletion - Frameshift
ACAP3ENSG00000131584ENST00000354980p.?c.1281+6T>CUnknown
XM_052561.7p.P315Rc.944C>GSubstitution - Missense
MSI1ENSG00000135097ENST00000257552p.Y219Sc.656A>CSubstitution - Missense
MSI1ENSG00000135097ENST00000257552p.?c.653-3C>TUnknown
P2RX4ENSG00000135124ENST00000337233p.K78Ec.232A>GSubstitution - Missense
B3GNT4ENSG00000176383ENST00000324189p.I124Ic.372C>TSubstitution - coding silent
DIABLOENSG00000184047ENST00000443649p.V194Lc.580G>TSubstitution - Missense
PTPRFENSG00000142949ENST00000359947p.G358fs*35c.1071delGDeletion - Frameshift
DPH2ENSG00000132768ENST00000255108p.G215Gc.645T>CSubstitution - coding silent
CCDC24ENSG00000159214ENST00000372318p.V254fs*>54c.757delGDeletion - Frameshift
NM_004073p.D225Nc.673G>ASubstitution - Missense
MPLENSG00000117400ENST00000372470p.P372Tc.1114C>ASubstitution - Missense
CDC20ENSG00000117399ENST00000310955p.R162Qc.485G>ASubstitution - Missense
PACS1ENSG00000175115ENST00000320580p.Q178Hc.534G>TSubstitution - Missense
RSPO1ENSG00000169218ENST00000401068p.Q249Qc.747G>ASubstitution - coding silent
PABPC4ENSG00000090621ENST00000372858p.R454Cc.1360C>TSubstitution - Missense
PABPC4ENSG00000090621ENST00000372857p.R454Cc.1360C>TSubstitution - Missense
PABPC4ENSG00000090621ENST00000372858p.R265Cc.793C>TSubstitution - Missense
MAP3K11ENSG00000173327ENST00000309100p.G199Gc.597G>TSubstitution - coding silent
KAT5ENSG00000172977ENST00000341318p.N348Nc.1044C>TSubstitution - coding silent
DNHD1ENSG00000179532ENST00000254579p.L395Lc.1183C>TSubstitution - coding silent
DNHD1ENSG00000179532ENST00000254579p.R1823Wc.5467C>TSubstitution - Missense
DNHD1ENSG00000179532ENST00000254579p.R481Wc.1441C>TSubstitution - Missense
MAP4K2ENSG00000168067ENST00000294066p.M764Ic.2292G>CSubstitution - Missense
MAP4K2ENSG00000168067ENST00000294066p.M764Ic.2292G>CSubstitution - Missense
CDC42BPGENSG00000171219ENST00000342711p.?c.2467-5C>AUnknown
ENST00000334821p.Q161Hc.483G>TSubstitution - Missense
TTC18ENSG00000156042ENST00000355577p.H704Nc.2110C>ASubstitution - Missense
CNGA4ENSG00000132259ENST00000379936p.S184Gc.550A>GSubstitution - Missense
ATL3ENSG00000184743ENST00000398868p.?c.1107+9G>AUnknown
PLCB3ENSG00000149782ENST00000279230p.D443Yc.1327G>TSubstitution - Missense
NM_139155.1p.R451Cc.1351C>TSubstitution - Missense
ST5ENSG00000166444ENST00000534127p.R439Cc.1315C>TSubstitution - Missense
TRIM49CENSG00000204449ENST00000448984p.E12fs*43c.29_30insGInsertion - Frameshift
TRIM49CENSG00000204449ENST00000432771p.E12fs*43c.29_30insGInsertion - Frameshift
RNF111ENSG00000157450ENST00000348370p.A525Ac.1575T>CSubstitution - coding silent
LDHAL6BENSG00000171989ENST00000307144p.A306Ac.918C>TSubstitution - coding silent
RORAENSG00000069667ENST00000261523p.P18Pc.54G>ASubstitution - coding silent
RORAENSG00000069667ENST00000309157p.P18Pc.54G>ASubstitution - coding silent
TUBENSG00000166402ENST00000305253p.L466Lc.1396C>TSubstitution - coding silent
PCF11ENSG00000165494ENST00000298281p.A1102Tc.3304G>ASubstitution - Missense
DLG2ENSG00000150672ENST00000280241p.Y4Cc.11A>GSubstitution - Missense
NM_004855.3p.L262fs*3c.780delTDeletion - Frameshift
ATP8B4ENSG00000104043ENST00000284509p.R1059*c.3175C>TSubstitution - Nonsense
SPPL2AENSG00000138600ENST00000261854p.S94fs*6c.278_279insGInsertion - Frameshift
DMXL2ENSG00000104093ENST00000251076p.R1393Qc.4178G>ASubstitution - Missense
DSTYKENSG00000133059ENST00000367162p.N473Nc.1419T>CSubstitution - coding silent
MYBPHENSG00000133055ENST00000255416p.V87Vc.261G>CSubstitution - coding silent
FMODENSG00000122176ENST00000354955p.D229Yc.685G>TSubstitution - Missense
ADAM15ENSG00000143537ENST00000356955p.N470fs*19c.1405_1406insAInsertion - Frameshift
PKLRENSG00000143627ENST00000342741p.T455Tc.1365C>TSubstitution - coding silent
ASH1LENSG00000116539ENST00000392403p.V2078Ic.6232G>ASubstitution - Missense
GON4LENSG00000116580ENST00000437809p.P1557Hc.4670C>ASubstitution - Missense
DENND4BENSG00000198837ENST00000361217p.?c.318-6G>AUnknown
DENND4BENSG00000198837ENST00000361217p.?c.173-6G>AUnknown
C1orf189ENSG00000163263ENST00000368525p.M6Ic.18G>ASubstitution - Missense
ATP8B2ENSG00000143515ENST00000368489p.A816Vc.2447C>TSubstitution - Missense
KPRPENSG00000203786ENST00000368773p.P444Pc.1332G>ASubstitution - coding silent
DENND4BENSG00000198837ENST00000361217p.R1103Hc.3308G>ASubstitution - Missense
DENND4BENSG00000198837ENST00000361217p.R991Hc.2972G>ASubstitution - Missense
FOXM1ENSG00000111206ENST00000342628p.S438Sc.1314T>CSubstitution - coding silent
AMN1ENSG00000151743ENST00000281471p.N165fs*17c.494_495insAInsertion - Frameshift
DNM1LENSG00000087470ENST00000549701p.?c.1200+6T>CUnknown
PKP2ENSG00000057294ENST00000070846p.R811Hc.2432G>ASubstitution - Missense
ALG10ENSG00000139133ENST00000266483p.A197Vc.590C>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000344100p.N904Nc.2712C>TSubstitution - coding silent
CACNA1CENSG00000151067ENST00000402845p.N934Nc.2802C>TSubstitution - coding silent
CACNA1CENSG00000151067ENST00000399634p.N904Nc.2712C>TSubstitution - coding silent
PPFIBP1ENSG00000110841ENST00000318304p.R998Hc.2993G>ASubstitution - Missense
PPFIBP1ENSG00000110841ENST00000228425p.R992Hc.2975G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000402845p.P1898Pc.5694G>ASubstitution - coding silent
CYFIP1ENSG00000068793ENST00000313077p.?c.795+4C>TUnknown
CYFIP1ENSG00000068793ENST00000313077p.A551Ac.1653C>TSubstitution - coding silent
C2CD5ENSG00000111731ENST00000333957p.I641Mc.1923A>GSubstitution - Missense
C2CD5ENSG00000111731ENST00000544930p.I456Mc.1368A>GSubstitution - Missense
CACNA1CENSG00000151067ENST00000344100p.A752Vc.2255C>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000399617p.A752Vc.2255C>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000402845p.A782Vc.2345C>TSubstitution - Missense
ADAMTS17ENSG00000140470ENST00000268070p.A957Tc.2869G>ASubstitution - Missense
VIMPENSG00000131871ENST00000398226p.G168Sc.502G>ASubstitution - Missense
PCSK6ENSG00000140479ENST00000344273p.?c.1411+4C>TUnknown
TM2D3ENSG00000184277ENST00000333202p.H163Hc.489C>TSubstitution - coding silent
SOS2ENSG00000100485ENST00000216373p.N198Dc.592A>GSubstitution - Missense
PYGLENSG00000100504ENST00000216392p.S752fs*37c.2254delTDeletion - Frameshift
NID2ENSG00000087303ENST00000216286p.P413Pc.1239G>ASubstitution - coding silent
NID2ENSG00000087303ENST00000216286p.A158Sc.472G>TSubstitution - Missense
TXNDC16ENSG00000087301ENST00000281741p.L28fs*10c.82_83delTTDeletion - Frameshift
BCL11BENSG00000127152ENST00000357195p.S554Sc.1662G>ASubstitution - coding silent
BAZ1AENSG00000198604ENST00000382422p.I616Kc.1847T>ASubstitution - Missense
PSMA6ENSG00000100902ENST00000261479p.A99Tc.295G>ASubstitution - Missense
RPL10LENSG00000165496ENST00000298283p.A6Tc.16G>ASubstitution - Missense
MDGA2ENSG00000139915ENST00000426342p.T210Ac.628A>GSubstitution - Missense
XM_371254.3p.A728Dc.2183C>ASubstitution - Missense
PRKAA2ENSG00000162409ENST00000371244p.E264Ec.792G>ASubstitution - coding silent
ZYG11AENSG00000203995ENST00000371528p.R354Kc.1061G>ASubstitution - Missense
CPT2ENSG00000157184ENST00000371486p.R193Hc.578G>ASubstitution - Missense
TC2NENSG00000165929ENST00000340892p.W484*c.1451G>ASubstitution - Nonsense
TMEM229BENSG00000198133ENST00000357461p.G151Rc.451G>ASubstitution - Missense
TSHRENSG00000165409ENST00000541158p.E35Ac.104A>CSubstitution - Missense
GTF2A1ENSG00000165417ENST00000553612p.R15*c.43A>TSubstitution - Nonsense
FOXN3ENSG00000053254ENST00000345097p.P96fs*42c.287delCDeletion - Frameshift
FOXN3ENSG00000053254ENST00000345097p.K10Kc.30G>ASubstitution - coding silent
FOXN3ENSG00000053254ENST00000557258p.K10Kc.30G>ASubstitution - coding silent
SYNE2ENSG00000054654ENST00000358025p.S3659Tc.10975T>ASubstitution - Missense
MTHFD1ENSG00000100714ENST00000555709p.P315Pc.945T>CSubstitution - coding silent
ZBTB1ENSG00000126804ENST00000358738p.R542Cc.1624C>TSubstitution - Missense
PLEKHG3ENSG00000126822ENST00000247226p.P1114Pc.3342G>ASubstitution - coding silent
SPTBENSG00000070182ENST00000389722p.P1407Pc.4221G>ASubstitution - coding silent
SPTBENSG00000070182ENST00000389722p.R416Qc.1247G>ASubstitution - Missense
JKAMPENSG00000050130ENST00000356057p.V151Ac.452T>CSubstitution - Missense
RTN1ENSG00000139970ENST00000267484p.G721Gc.2163C>TSubstitution - coding silent
RTN1ENSG00000139970ENST00000267484p.S367Sc.1101G>ASubstitution - coding silent
MNAT1ENSG00000020426ENST00000261245p.V78fs*2c.226delADeletion - Frameshift
NM_006255p.K615fs*1c.1842_1843insTInsertion - Frameshift
SYT16ENSG00000139973ENST00000430451p.R253Qc.758G>ASubstitution - Missense
ENST00000358254p.R253Qc.758G>ASubstitution - Missense
DDHD1ENSG00000100523ENST00000323669p.V682Ic.2044G>ASubstitution - Missense
DDHD1ENSG00000100523ENST00000323669p.L631Sc.1892T>CSubstitution - Missense
PRKACBENSG00000142875ENST00000394838p.R152Wc.454C>TSubstitution - Missense
PRKACBENSG00000142875ENST00000370689p.R145Wc.433C>TSubstitution - Missense
PRKACBENSG00000142875ENST00000370689p.T301Tc.903A>GSubstitution - coding silent
MCOLN3ENSG00000055732ENST00000370589p.E192*c.574G>TSubstitution - Nonsense
WLSENSG00000116729ENST00000354777p.V519Lc.1555G>CSubstitution - Missense
LRRC7ENSG00000033122ENST00000035383p.Q1502Rc.4505A>GSubstitution - Missense
SRSF11ENSG00000116754ENST00000370950p.V206Ic.616G>ASubstitution - Missense
PLEKHG5ENSG00000171680ENST00000377748p.N37Sc.110A>GSubstitution - Missense
LEPROTENSG00000213625ENST00000371065p.A81Vc.242C>TSubstitution - Missense
TAS1R1ENSG00000173662ENST00000333172p.G805Gc.2415T>CSubstitution - coding silent
ZBTB48ENSG00000204859ENST00000377674p.?c.1516+10G>AUnknown
DNAJC11ENSG00000007923ENST00000377577p.T266Ic.797C>TSubstitution - Missense
MIER1ENSG00000198160ENST00000401041p.R37Qc.110G>ASubstitution - Missense
DOCK7ENSG00000116641ENST00000340370p.G189fs*10c.566delGDeletion - Frameshift
ALG6ENSG00000088035ENST00000371108p.T305Mc.914C>TSubstitution - Missense
WDTC1ENSG00000142784ENST00000361771p.R649Qc.1946G>ASubstitution - Missense
EXTL1ENSG00000158008ENST00000374280p.P601fs*38c.1798delCDeletion - Frameshift
SLC30A2ENSG00000158014ENST00000374276p.R72Hc.215G>ASubstitution - Missense
CEP85ENSG00000130695ENST00000252992p.T666Mc.1997C>TSubstitution - Missense
SFNENSG00000175793ENST00000339276p.S209Sc.627C>TSubstitution - coding silent
OR2AK2ENSG00000187080ENST00000366480p.A288Ac.864G>ASubstitution - coding silent
OR2M4ENSG00000171180ENST00000306687p.L27Fc.79C>TSubstitution - Missense
OR2T11ENSG00000183130ENST00000330803p.G22Rc.64G>ASubstitution - Missense
OR14I1ENSG00000189181ENST00000342623p.Y33Nc.97T>ASubstitution - Missense
NOTCH2NLENSG00000213240ENST00000344859p.K31Rc.92A>GSubstitution - Missense
NIPAL3ENSG00000001461ENST00000374399p.Y243Hc.727T>CSubstitution - Missense
MRPL20ENSG00000242485ENST00000344843p.R71*c.211C>TSubstitution - Nonsense
TMEM132DENSG00000151952ENST00000422113p.V299Mc.895G>ASubstitution - Missense
NM_016155.3p.H218Hc.654C>TSubstitution - coding silent
EP400ENSG00000183495ENST00000389561p.T1690Mc.5069C>TSubstitution - Missense
ENST00000280576p.R1858Wc.5572C>TSubstitution - Missense
NCOR2ENSG00000196498ENST00000405201p.R1226Hc.3677G>ASubstitution - Missense
TAF1DENSG00000166012ENST00000323981p.F161fs*7c.483delTDeletion - Frameshift
OGFOD2ENSG00000111325ENST00000397389p.?c.123+4C>TUnknown
OGFOD2ENSG00000111325ENST00000228922p.?c.303+4C>TUnknown
MPHOSPH9ENSG00000051825ENST00000541076p.E821Ec.2463G>ASubstitution - coding silent
TRIM49CENSG00000204449ENST00000448984p.V80Ac.239T>CSubstitution - Missense
TRIM49CENSG00000204449ENST00000432771p.V80Ac.239T>CSubstitution - Missense
ENST00000298047_v61p.R3276Wc.9826C>TSubstitution - Missense
SYTL2ENSG00000137501ENST00000354566p.R1002Hc.3005G>ASubstitution - Missense
SYTL2ENSG00000137501ENST00000359152p.R1510Hc.4529G>ASubstitution - Missense
SYTL2ENSG00000137501ENST00000359152p.S71Tc.211T>ASubstitution - Missense
NM_018993.2p.P309fs*9c.916_917insCInsertion - Frameshift
RALGAPA2ENSG00000188559ENST00000202677p.V1029Ic.3085G>ASubstitution - Missense
SPTLC3ENSG00000172296ENST00000399002p.T368Ac.1102A>GSubstitution - Missense
XM_209363.4p.Q181Hc.543G>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S766Sc.2298C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.S766Sc.2298C>TSubstitution - coding silent
ZNF317ENSG00000130803ENST00000247956p.V418Mc.1252G>ASubstitution - Missense
ZNF177ENSG00000188629ENST00000434737p.R472Qc.1415G>ASubstitution - Missense
RSAD1ENSG00000136444ENST00000258955p.A124Vc.371C>TSubstitution - Missense
NM_032133.2p.F514Ic.1540T>ASubstitution - Missense
GOSR2ENSG00000108433ENST00000439730p.R47Cc.139C>TSubstitution - Missense
EFCAB13ENSG00000178852ENST00000331493p.I253Vc.757A>GSubstitution - Missense
COTL1ENSG00000103187ENST00000262428p.G83Sc.247G>ASubstitution - Missense
KANSL1ENSG00000120071ENST00000262419p.L1025Vc.3073C>GSubstitution - Missense
CENPNENSG00000166451ENST00000393335p.N118Sc.353A>GSubstitution - Missense
CENPNENSG00000166451ENST00000305850p.N118Sc.353A>GSubstitution - Missense
CENPNENSG00000166451ENST00000299572p.N118Sc.353A>GSubstitution - Missense
ATMINENSG00000166454ENST00000299575p.T286Pc.856A>CSubstitution - Missense
PKD1L2ENSG00000166473ENST00000337114p.A990Tc.2968G>ASubstitution - Missense
CMIPENSG00000153815ENST00000537098p.R174Hc.521G>ASubstitution - Missense
CNTNAP4ENSG00000152910ENST00000307431p.F1045Lc.3133T>CSubstitution - Missense
WDR24ENSG00000127580ENST00000248142p.R358Rc.1074C>TSubstitution - coding silent
ZFP1ENSG00000184517ENST00000393430p.T235Ic.704C>TSubstitution - Missense
C5orf42ENSG00000197603ENST00000425232p.T1879Ac.5635A>GSubstitution - Missense
C5orf42ENSG00000197603ENST00000274258p.T759Ac.2275A>GSubstitution - Missense
OSMRENSG00000145623ENST00000274276p.L745Lc.2235A>GSubstitution - coding silent
FYBENSG00000082074ENST00000351578p.P325Tc.973C>ASubstitution - Missense
IL7RENSG00000168685ENST00000303115p.R267fs*28c.793delADeletion - Frameshift
NIPBLENSG00000164190ENST00000282516p.T528Tc.1584G>ASubstitution - coding silent
DISP2ENSG00000140323ENST00000267889p.L111Ic.331C>ASubstitution - Missense
INO80ENSG00000128908ENST00000361937p.G488Sc.1462G>ASubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.S1617Sc.4851C>TSubstitution - coding silent
AVENENSG00000169857ENST00000306730p.E350Vc.1049A>TSubstitution - Missense
GPR176ENSG00000166073ENST00000561100p.L321Lc.963T>CSubstitution - coding silent
GJA3ENSG00000121743ENST00000241125p.D51Yc.151G>TSubstitution - Missense
SPATA13ENSG00000182957ENST00000382108p.G543Sc.1627G>ASubstitution - Missense
ENST00000360220p.G543Sc.1627G>ASubstitution - Missense
SPATA13ENSG00000182957ENST00000343003p.K33fs*20c.92delADeletion - Frameshift
ADPRHL1ENSG00000153531ENST00000375418p.A344Sc.1030G>TSubstitution - Missense
CHAMP1ENSG00000198824ENST00000361283p.G722fs*36c.2158delADeletion - Frameshift
MYO16ENSG00000041515ENST00000357550p.I732Ic.2196T>CSubstitution - coding silent
COL4A2ENSG00000134871ENST00000360467p.G1188Gc.3564T>GSubstitution - coding silent
COL4A2ENSG00000134871ENST00000360467p.C1705Cc.5115C>TSubstitution - coding silent
SLC25A47ENSG00000140107ENST00000361529p.Q130*c.388C>TSubstitution - Nonsense
DLK1ENSG00000185559ENST00000341267p.P160fs*50c.474delCDeletion - Frameshift
KLHL17ENSG00000187961ENST00000338591p.R198Wc.592C>TSubstitution - Missense
GBP6ENSG00000183347ENST00000370456p.T70Tc.210G>ASubstitution - coding silent
ZNF644ENSG00000122482ENST00000370440p.K80Tc.239A>CSubstitution - Missense
RPL5ENSG00000122406ENST00000370321p.A65Dc.194C>ASubstitution - Missense
UACAENSG00000137831ENST00000322954p.N712Sc.2135A>GSubstitution - Missense
UACAENSG00000137831ENST00000379983p.N699Sc.2096A>GSubstitution - Missense
GBP2ENSG00000162645ENST00000370466p.T345Mc.1034C>TSubstitution - Missense
CLPXENSG00000166855ENST00000300107p.K598fs*>36c.1793delADeletion - Frameshift
CLPXENSG00000166855ENST00000300107p.V135fs*5c.395_396insTInsertion - Frameshift
SKOR1ENSG00000188779ENST00000341418p.P715Pc.2145C>TSubstitution - coding silent
HERC1ENSG00000103657ENST00000443617p.Q318Qc.954G>ASubstitution - coding silent
UNC79ENSG00000133958ENST00000256339p.F612Lc.1834T>CSubstitution - Missense
DDX24ENSG00000089737ENST00000330836p.R649Wc.1945C>TSubstitution - Missense
SERPINA12ENSG00000165953ENST00000556881p.T185fs*6c.547_548insAInsertion - Frameshift
TTC7BENSG00000165914ENST00000328459p.T479Mc.1436C>TSubstitution - Missense
RPS6KA5ENSG00000100784ENST00000261991p.R756Hc.2267G>ASubstitution - Missense
RPS6KA5ENSG00000100784ENST00000261991p.R756Hc.2267G>ASubstitution - Missense
RPS6KA5ENSG00000100784ENST00000261991p.V225Ic.673G>ASubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.V865Ic.2593G>ASubstitution - Missense
ARHGAP44ENSG00000006740ENST00000379672p.A600Ac.1800A>GSubstitution - coding silent
CRKENSG00000167193ENST00000300574p.S225Sc.675C>TSubstitution - coding silent
SLC43A2ENSG00000167703ENST00000301335p.L389Pc.1166T>CSubstitution - Missense
ENSG00000181464ENST00000312127p.I223Tc.668T>CSubstitution - Missense
ENST00000312127_v68p.I223Tc.668T>CSubstitution - Missense
ESX1ENSG00000123576ENST00000372588p.P245Pc.735T>GSubstitution - coding silent
FRMPD3ENSG00000147234ENST00000276185p.P716Hc.2147C>ASubstitution - Missense
ZNF782ENSG00000196597ENST00000481138p.G680Rc.2038G>CSubstitution - Missense
CENPIENSG00000102384ENST00000423383p.I587Vc.1759A>GSubstitution - Missense
ENST00000331986p.E6537Dc.19611G>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.A10859Ec.32576C>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T10854Ac.32560A>GSubstitution - Missense
ENST00000331986p.T6487Ac.19459A>GSubstitution - Missense
MYO1FENSG00000142347ENST00000338257p.I502Vc.1504A>GSubstitution - Missense
ENST00000380947p.G279Gc.837T>CSubstitution - coding silent
C3ENSG00000125730ENST00000245907p.R478*c.1432C>TSubstitution - Nonsense
MBD3L2ENSG00000230522ENST00000381393p.L193Lc.579G>ASubstitution - coding silent
ENST00000215591p.D839Nc.2515G>ASubstitution - Missense
GTF2F1ENSG00000125651ENST00000394456p.P148Pc.444G>ASubstitution - coding silent
SLC25A41ENSG00000181240ENST00000321510p.G151Dc.452G>ASubstitution - Missense
DENND1CENSG00000205744ENST00000381480p.L233Lc.699G>ASubstitution - coding silent
SH2D1AENSG00000183918ENST00000371139p.G116Wc.346G>TSubstitution - Missense
ZNF280CENSG00000056277ENST00000370978p.C641Cc.1923C>TSubstitution - coding silent
AGTR2ENSG00000180772ENST00000371906p.F325Lc.973T>CSubstitution - Missense
ZCCHC12ENSG00000174460ENST00000310164p.C350Fc.1049G>TSubstitution - Missense
PREX2ENSG00000046889ENST00000288368p.K131fs*9c.389delADeletion - Frameshift
RGAG1ENSG00000243978ENST00000465301p.P82Rc.245C>GSubstitution - Missense
RGAG1ENSG00000243978ENST00000465301p.T988Ac.2962A>GSubstitution - Missense
CAPN6ENSG00000077274ENST00000324068p.M400Lc.1198A>TSubstitution - Missense
HTR2CENSG00000147246ENST00000371951p.V240Ic.718G>ASubstitution - Missense
NSMAFENSG00000035681ENST00000038176p.C828Yc.2483G>ASubstitution - Missense
TRIM55ENSG00000147573ENST00000315962p.I288fs*13c.855delADeletion - Frameshift
MCMDC2ENSG00000178460ENST00000396592p.V367Ac.1100T>CSubstitution - Missense
PXDNLENSG00000147485ENST00000356297p.V610Ac.1829T>CSubstitution - Missense
ATP6V1HENSG00000047249ENST00000359530p.R302Hc.905G>ASubstitution - Missense
ATP6V1HENSG00000047249ENST00000355221p.R284Hc.851G>ASubstitution - Missense
ERBB4ENSG00000178568ENST00000342788p.S40fs*1c.119_120delCTDeletion - Frameshift
ERBB4ENSG00000178568ENST00000402597p.S40fs*1c.119_120delCTDeletion - Frameshift
TDRD15ENSG00000218819ENST00000405799p.K1566fs*14c.4691delADeletion - Frameshift
BARD1ENSG00000138376ENST00000260947p.R322Cc.964C>TSubstitution - Missense
ABCA12ENSG00000144452ENST00000272895p.Y1650Yc.4950C>TSubstitution - coding silent
FN1ENSG00000115414ENST00000354785p.A772Vc.2315C>TSubstitution - Missense
TMEM169ENSG00000163449ENST00000295658p.G115Cc.343G>TSubstitution - Missense
IGFBP2ENSG00000115457ENST00000233809p.L308Lc.924C>TSubstitution - coding silent
TNS1ENSG00000079308ENST00000446903p.T482Tc.1446G>ASubstitution - coding silent
TNS1ENSG00000079308ENST00000446903p.A61Vc.182C>TSubstitution - Missense
GLSENSG00000115419ENST00000320717p.R307Lc.920G>TSubstitution - Missense
MYT1LENSG00000186487ENST00000399161p.R218Qc.653G>ASubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.G1533Sc.4597G>ASubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.G1533Sc.4597G>ASubstitution - Missense
MYT1LENSG00000186487ENST00000399161p.C959Cc.2877C>TSubstitution - coding silent
FSIP2ENSG00000188738ENST00000343098p.S97fs*16c.289_290insTInsertion - Frameshift
FSIP2ENSG00000188738ENST00000343098p.S97fs*16c.289_290insTInsertion - Frameshift
FSIP2ENSG00000188738ENST00000343098p.P1227fs*24c.3678_3679insAInsertion - Frameshift
FSIP2ENSG00000188738ENST00000343098p.P1227fs*24c.3678_3679insAInsertion - Frameshift
ITGAVENSG00000138448ENST00000261023p.R618Qc.1853G>ASubstitution - Missense
NT5C1BENSG00000185013ENST00000359846p.?c.1071+7T>CUnknown
CALCRLENSG00000064989ENST00000392370p.I162Tc.485T>CSubstitution - Missense
CCDC141ENSG00000163492ENST00000343876p.W152*c.456G>ASubstitution - Nonsense
CCDC141ENSG00000163492ENST00000420890p.W727*c.2181G>ASubstitution - Nonsense
ENST00000356127p.L1751Pc.5252T>CSubstitution - Missense
NM_003319p.L1705Pc.5114T>CSubstitution - Missense
TTNENSG00000155657ENST00000360870p.L1751Pc.5252T>CSubstitution - Missense
SIRPAENSG00000198053ENST00000356025p.Q422Qc.1266G>ASubstitution - coding silent
SPO11ENSG00000054796ENST00000371263p.A26Ac.78C>TSubstitution - coding silent
FAM65CENSG00000042062ENST00000327979p.T59Mc.176C>TSubstitution - Missense
SALL4ENSG00000101115ENST00000217086p.A39Ac.117G>ASubstitution - coding silent
SLA2ENSG00000101082ENST00000262866p.H151Nc.451C>ASubstitution - Missense
NDRG3ENSG00000101079ENST00000349004p.R276Hc.827G>ASubstitution - Missense
ENST00000237536_v68p.T1243Tc.3729G>ASubstitution - coding silent
MROH8ENSG00000101353ENST00000343811p.?c.2056+3A>GUnknown
ENST00000343811_v68p.?c.2056+3A>GUnknown
SRCENSG00000197122ENST00000445403p.G30fs*57c.85delGDeletion - Frameshift
ENST00000303246p.K14Kc.42A>GSubstitution - coding silent
EPB41L1ENSG00000088367ENST00000338074p.R358Wc.1072C>TSubstitution - Missense
DLGAP4ENSG00000080845ENST00000373913p.M243Vc.727A>GSubstitution - Missense
LILRA1ENSG00000104974ENST00000251372p.A199Gc.596C>GSubstitution - Missense
LILRA1ENSG00000104974ENST00000251372p.N203Sc.608A>GSubstitution - Missense
CBFA2T2ENSG00000078699ENST00000342704p.C522Cc.1566C>TSubstitution - coding silent
ITCHENSG00000078747ENST00000374864p.R277Mc.830G>TSubstitution - Missense
CEACAM18ENSG00000213822ENST00000451626p.A21Tc.61G>ASubstitution - Missense
TTYH1ENSG00000167614ENST00000376531p.R73Qc.218G>ASubstitution - Missense
TTYH1ENSG00000167614ENST00000376530p.R73Qc.218G>ASubstitution - Missense
LILRA2ENSG00000239998ENST00000251376p.P425Hc.1274C>ASubstitution - Missense
ZNF473ENSG00000142528ENST00000391821p.R331Qc.992G>ASubstitution - Missense
POLD1ENSG00000062822ENST00000440232p.L622Fc.1864C>TSubstitution - Missense
POLD1ENSG00000062822ENST00000440232p.L622Fc.1864C>TSubstitution - Missense
KIAA0355ENSG00000166398ENST00000299505p.T586Ic.1757C>TSubstitution - Missense
KIAA0355ENSG00000166398ENST00000299505p.G947*c.2839G>TSubstitution - Nonsense
GPIENSG00000105220ENST00000356487p.R135Hc.404G>ASubstitution - Missense
CCDC155ENSG00000161609ENST00000447857p.V527Vc.1581C>TSubstitution - coding silent
ADM5ENSG00000224420ENST00000420022p.L6Lc.18C>TSubstitution - coding silent
ENST00000359032_v68p.R110Cc.328C>TSubstitution - Missense
AP2A1ENSG00000196961ENST00000359032p.R110Cc.328C>TSubstitution - Missense
RHPN2ENSG00000131941ENST00000254260p.P470Tc.1408C>ASubstitution - Missense
GPATCH1ENSG00000076650ENST00000170564p.R833Qc.2498G>ASubstitution - Missense
PEPDENSG00000124299ENST00000244137p.G51Rc.151G>ASubstitution - Missense
MIER2ENSG00000105556ENST00000264819p.T496Tc.1488T>CSubstitution - coding silent
ZNF676ENSG00000196109ENST00000397121p.A444Dc.1331C>ASubstitution - Missense
ZNF91ENSG00000167232ENST00000300619p.K936Rc.2807A>GSubstitution - Missense
ZNF91ENSG00000167232ENST00000300619p.K936Rc.2807A>GSubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.V98Lc.292G>CSubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.V98Lc.292G>CSubstitution - Missense
ENST00000428290_v65p.V98Lc.292G>CSubstitution - Missense
DOT1LENSG00000104885ENST00000398665p.T735Tc.2205G>ASubstitution - coding silent
ENST00000221482p.T735Tc.2205G>ASubstitution - coding silent
TNRC6CENSG00000078687ENST00000335749p.V1590Ic.4768G>ASubstitution - Missense
SYNGR2ENSG00000108639ENST00000225777p.E216Kc.646G>ASubstitution - Missense
RECQL5ENSG00000108469ENST00000584999p.V331Vc.993C>TSubstitution - coding silent
NM_004259.4p.V304Vc.912C>TSubstitution - coding silent
ZBTB4ENSG00000174282ENST00000380599p.S145Sc.435C>TSubstitution - coding silent
ZBTB4ENSG00000174282ENST00000311403p.V32Ic.94G>ASubstitution - Missense
FBF1ENSG00000188878ENST00000319129p.Q1106*c.3316C>TSubstitution - Nonsense
EVPLENSG00000167880ENST00000301607p.G1918Gc.5754C>TSubstitution - coding silent
SMYD4ENSG00000186532ENST00000305513p.A424Vc.1271C>TSubstitution - Missense
FLCNENSG00000154803ENST00000285071p.?c.1433-6C>TUnknown
RAI1ENSG00000108557ENST00000353383p.C594Yc.1781G>ASubstitution - Missense
RAI1ENSG00000108557ENST00000353383p.R960Qc.2879G>ASubstitution - Missense
MYO15AENSG00000091536ENST00000205890p.P292Pc.876C>TSubstitution - coding silent
SHMT1ENSG00000176974ENST00000316694p.A237Vc.710C>TSubstitution - Missense
PRPF8ENSG00000174231ENST00000304992p.A1846Ac.5538C>TSubstitution - coding silent
PRPF8ENSG00000174231ENST00000304992p.A1828Vc.5483C>TSubstitution - Missense
CCDC144AENSG00000170160ENST00000443444p.R1137*c.3409C>TSubstitution - Nonsense
CCDC144AENSG00000170160ENST00000360524p.R1137*c.3409C>TSubstitution - Nonsense
ENST00000399211p.G344Gc.1032G>ASubstitution - coding silent
COL4A6ENSG00000197565ENST00000394872p.G611fs*127c.1830delADeletion - Frameshift
DNAH9ENSG00000007174ENST00000262442p.I2422Vc.7264A>GSubstitution - Missense
MYOCDENSG00000141052ENST00000343344p.S905Sc.2715C>TSubstitution - coding silent
WSCD1ENSG00000179314ENST00000317744p.W565*c.1695G>ASubstitution - Nonsense
MRC2ENSG00000011028ENST00000303375p.L727Lc.2181C>TSubstitution - coding silent
CDH17ENSG00000079112ENST00000027335p.P33Hc.98C>ASubstitution - Missense
MTDHENSG00000147649ENST00000336273p.K447fs*19c.1333delADeletion - Frameshift
NIPAL2ENSG00000104361ENST00000341166p.T147Mc.440C>TSubstitution - Missense
CCDC180ENSG00000197816ENST00000375205p.S162Ic.485G>TSubstitution - Missense
DCAF4L2ENSG00000176566ENST00000319675p.Q258Qc.774A>GSubstitution - coding silent
RIPK2ENSG00000104312ENST00000220751p.?c.1029+3_1029+9delaaaaaaaUnknown
SCARA5ENSG00000168079ENST00000354914p.G438Sc.1312G>ASubstitution - Missense
PNOCENSG00000168081ENST00000301908p.P111Sc.331C>TSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.G2907Rc.8719G>ASubstitution - Missense
KIF13BENSG00000197892ENST00000524189p.C484Cc.1452C>TSubstitution - coding silent
LOXL2ENSG00000134013ENST00000389131p.C543Yc.1628G>ASubstitution - Missense
CDCA2ENSG00000184661ENST00000330560p.?c.1843+2T>CUnknown
DPYSL2ENSG00000092964ENST00000311151p.A560Vc.1679C>TSubstitution - Missense
LZTS1ENSG00000061337ENST00000381569p.S209Pc.625T>CSubstitution - Missense
NPM2ENSG00000158806ENST00000397940p.P169Sc.505C>TSubstitution - Missense
HRENSG00000168453ENST00000381418p.R386fs*69c.1156delCDeletion - Frameshift
ADAMTS9ENSG00000163638ENST00000498707p.?c.2813+9C>TUnknown
MAGI1ENSG00000151276ENST00000402939p.T1222Tc.3666C>TSubstitution - coding silent
MAGI1ENSG00000151276ENST00000402939p.R929Cc.2785C>TSubstitution - Missense
TMF1ENSG00000144747ENST00000398559p.N1078fs*7c.3233delADeletion - Frameshift
FRMD4BENSG00000114541ENST00000398540p.P591Sc.1771C>TSubstitution - Missense
ERC2ENSG00000187672ENST00000288221p.R892Wc.2674C>TSubstitution - Missense
ERC2ENSG00000187672ENST00000288221p.R892Wc.2674C>TSubstitution - Missense
ARF4ENSG00000168374ENST00000303436p.K142Kc.426A>GSubstitution - coding silent
SLMAPENSG00000163681ENST00000295951p.L129fs*58c.380delTDeletion - Frameshift
ACOX2ENSG00000168306ENST00000302819p.L338Mc.1012C>ASubstitution - Missense
TMEM2ENSG00000135048ENST00000377044p.T258Tc.774C>ASubstitution - coding silent
CACNA1DENSG00000157388ENST00000288139p.G1036Sc.3106G>ASubstitution - Missense
CACNA1DENSG00000157388ENST00000350061p.G1016Sc.3046G>ASubstitution - Missense
CACNA2D3ENSG00000157445ENST00000474759p.D171Nc.511G>ASubstitution - Missense
CACNA2D3ENSG00000157445ENST00000474759p.A619Vc.1856C>TSubstitution - Missense
TMEM252ENSG00000181778ENST00000377311p.A42Vc.125C>TSubstitution - Missense
TJP2ENSG00000119139ENST00000377245p.R1047Qc.3140G>ASubstitution - Missense
SHBENSG00000107338ENST00000377707p.G267Dc.800G>ASubstitution - Missense
SPATA31A1ENSG00000204849ENST00000377647p.P1106fs*13c.3313delCDeletion - Frameshift
KIAA1432ENSG00000107036ENST00000381532p.R350Hc.1049G>ASubstitution - Missense
UHRF2ENSG00000147854ENST00000276893p.?c.1497+1G>AUnknown
CCDC107ENSG00000159884ENST00000426546p.G266Gc.798C>TSubstitution - coding silent
TLN1ENSG00000137076ENST00000314888p.K943Nc.2829G>TSubstitution - Missense
NPR2ENSG00000159899ENST00000342694p.R848Qc.2543G>ASubstitution - Missense
CLTAENSG00000122705ENST00000242285p.N184Nc.552C>TSubstitution - coding silent
KIAA1161ENSG00000164976ENST00000297625p.A27Vc.80C>TSubstitution - Missense
C9orf131ENSG00000174038ENST00000312292p.G145Gc.435C>GSubstitution - coding silent
IFT74ENSG00000096872ENST00000380062p.S472fs*4c.1409_1410insAInsertion - Frameshift
LINGO2ENSG00000174482ENST00000379992p.V543Lc.1627G>CSubstitution - Missense
BAG1ENSG00000107262ENST00000472232p.D265Yc.793G>TSubstitution - Missense
FSCN3ENSG00000106328ENST00000265825p.P209Hc.626C>ASubstitution - Missense
FLNCENSG00000128591ENST00000325888p.V809Vc.2427G>ASubstitution - coding silent
RNF133ENSG00000188050ENST00000340112p.S375Sc.1125A>GSubstitution - coding silent
RNF133ENSG00000188050ENST00000340112p.V153Dc.458T>ASubstitution - Missense
RNF148ENSG00000235631ENST00000434824p.V118Mc.352G>ASubstitution - Missense
GPR37ENSG00000170775ENST00000303921p.S604Pc.1810T>CSubstitution - Missense
GPR37ENSG00000170775ENST00000303921p.P89Lc.266C>TSubstitution - Missense
ZNF800ENSG00000048405ENST00000393312p.Y263fs*3c.779_780insAInsertion - Frameshift
NELFCDENSG00000101158ENST00000344018p.?c.1609-4G>AUnknown
CTSZENSG00000101160ENST00000217131p.G227Rc.679G>ASubstitution - Missense
ZNF831ENSG00000124203ENST00000371030p.S1383Cc.4147A>TSubstitution - Missense
FERMT1ENSG00000101311ENST00000217289p.?c.1860+1G>AUnknown
LSM14BENSG00000149657ENST00000279068p.A297Ac.891C>TSubstitution - coding silent
CASS4ENSG00000087589ENST00000360314p.?c.460-7C>TUnknown
RTFDC1ENSG00000022277ENST00000023939p.P261Lc.782C>TSubstitution - Missense
FAM209AENSG00000124103ENST00000371328p.G140Gc.420T>CSubstitution - coding silent
BRWD1ENSG00000185658ENST00000342449p.S653Ic.1958G>TSubstitution - Missense
ZNF799ENSG00000196466ENST00000430385p.T468Ac.1402A>GSubstitution - Missense
ENST00000357979p.T255Ac.763A>GSubstitution - Missense
ZNF564ENSG00000249709ENST00000339282p.D263Dc.789C>TSubstitution - coding silent
RNASEH2AENSG00000104889ENST00000221486p.L124Fc.370C>TSubstitution - Missense
MAST1ENSG00000105613ENST00000251472p.E371fs*10c.1107delGDeletion - Frameshift
SYCE2ENSG00000161860ENST00000293695p.P28Pc.84G>ASubstitution - coding silent
CALRENSG00000179218ENST00000316448p.V349Ic.1045G>ASubstitution - Missense
RAB3DENSG00000105514ENST00000222120p.?c.347+7G>AUnknown
EPORENSG00000187266ENST00000222139p.?c.251+7C>AUnknown
RGL3ENSG00000205517ENST00000380456p.P478Pc.1434G>ASubstitution - coding silent
XM_290867.2p.P242Pc.726G>ASubstitution - coding silent
ZNF763ENSG00000197054ENST00000343949p.S188Ac.562T>GSubstitution - Missense
ZNF433ENSG00000197647ENST00000344980p.G553Ac.1658G>CSubstitution - Missense
ILF3ENSG00000129351ENST00000318511p.G795Gc.2385C>TSubstitution - coding silent
HMHA1ENSG00000180448ENST00000313093p.S542Sc.1626C>TSubstitution - coding silent
LDLRENSG00000130164ENST00000558518p.P84Tc.250C>ASubstitution - Missense
SBNO2ENSG00000064932ENST00000361757p.?c.441+9G>AUnknown
ENST00000250872p.A107Ac.321G>ASubstitution - coding silent
KANK2ENSG00000197256ENST00000355150p.S33Sc.99C>TSubstitution - coding silent
FHOD3ENSG00000134775ENST00000257209p.S1371Sc.4113G>ASubstitution - coding silent
SLC14A2ENSG00000132874ENST00000255226p.D76Nc.226G>ASubstitution - Missense
TYK2ENSG00000105397ENST00000525621p.A308Vc.923C>TSubstitution - Missense
PDE4AENSG00000065989ENST00000352831p.V326Ac.977T>CSubstitution - Missense
PDE4AENSG00000065989ENST00000293683p.V300Ac.899T>CSubstitution - Missense
PDE4AENSG00000065989ENST00000344979p.V87Ac.260T>CSubstitution - Missense
MYOM1ENSG00000101605ENST00000356443p.R973Hc.2918G>ASubstitution - Missense
LAMA3ENSG00000053747ENST00000269217p.R538Qc.1613G>ASubstitution - Missense
CHST9ENSG00000154080ENST00000284224p.V17fs*19c.50_51delTGDeletion - Frameshift
METTL4ENSG00000101574ENST00000574538p.K187Kc.561G>ASubstitution - coding silent
DSC3ENSG00000134762ENST00000434452p.F25Vc.73T>GSubstitution - Missense
ALOXE3ENSG00000179148ENST00000318227p.P114delPc.339_341delTCCDeletion - In frame
SECTM1ENSG00000141574ENST00000269389p.R172Rc.516C>TSubstitution - coding silent
ENST00000411702p.A4931Tc.14791G>ASubstitution - Missense
NPTX1ENSG00000171246ENST00000306773p.R235Rc.705G>ASubstitution - coding silent
NPTX1ENSG00000171246ENST00000306773p.P125Pc.375G>ASubstitution - coding silent
RPTORENSG00000141564ENST00000306801p.L457fs*74c.1370_1371insTInsertion - Frameshift
RPTORENSG00000141564ENST00000306801p.R488Wc.1462C>TSubstitution - Missense
RPTORENSG00000141564ENST00000306801p.F621Fc.1863C>TSubstitution - coding silent
ENST00000436173p.Q873*c.2617C>TSubstitution - Nonsense
ACTG1ENSG00000184009ENST00000331925p.Q225*c.673C>TSubstitution - Nonsense
CBX2ENSG00000173894ENST00000310942p.P171fs*10c.508delCDeletion - Frameshift
CBX2ENSG00000173894ENST00000310942p.V524Mc.1570G>ASubstitution - Missense
ENST00000411702p.Q2002fs*50c.5999delCDeletion - Frameshift
TAOK1ENSG00000160551ENST00000261716p.R617Hc.1850G>ASubstitution - Missense
TAOK1ENSG00000160551ENST00000261716p.R617Hc.1850G>ASubstitution - Missense
TAOK1ENSG00000160551ENST00000261716p.R674Cc.2020C>TSubstitution - Missense
TAOK1ENSG00000160551ENST00000261716p.R674Cc.2020C>TSubstitution - Missense
GIT1ENSG00000108262ENST00000225394p.P523fs*17c.1568delCDeletion - Frameshift
ANKRD13BENSG00000198720ENST00000394859p.I389fs*3c.1164_1165insCInsertion - Frameshift
CORO6ENSG00000167549ENST00000388767p.R69*c.205C>TSubstitution - Nonsense
RAP1GAP2ENSG00000132359ENST00000254695p.V312Mc.934G>ASubstitution - Missense
ENST00000005905p.?c.4299+7C>AUnknown
ULK2ENSG00000083290ENST00000361658p.N229fs*7c.686_687insAInsertion - Frameshift
MAP2K3ENSG00000034152ENST00000316920p.V178Vc.534G>ASubstitution - coding silent
WSB1ENSG00000109046ENST00000262394p.S418Sc.1254G>ASubstitution - coding silent
CACNG4ENSG00000075461ENST00000262138p.F307fs*5c.916delTDeletion - Frameshift
MAPK7ENSG00000166484ENST00000308406p.D447Nc.1339G>ASubstitution - Missense
ACEENSG00000159640ENST00000290866p.R482Cc.1444C>TSubstitution - Missense
CSH2ENSG00000213218ENST00000392886p.R45Cc.133C>TSubstitution - Missense
SCN4AENSG00000007314ENST00000435607p.R1639Hc.4916G>ASubstitution - Missense
CEP95ENSG00000258890ENST00000556440p.S234Pc.700T>CSubstitution - Missense
BRIP1ENSG00000136492ENST00000259008p.N1087fs*4c.3260_3261insAInsertion - Frameshift
BRIP1ENSG00000136492ENST00000259008p.N1087fs*4c.3260_3261insAInsertion - Frameshift
DTHD1ENSG00000197057ENST00000456874p.R594Rc.1782G>ASubstitution - coding silent
OLIG1ENSG00000184221ENST00000333063p.P118Sc.352C>TSubstitution - Missense
SONENSG00000159140ENST00000356577p.K1888Kc.5664A>GSubstitution - coding silent
SONENSG00000159140ENST00000300278p.K1888Kc.5664A>GSubstitution - coding silent
SMIM11ENSG00000205670ENST00000399292p.A18Tc.52G>ASubstitution - Missense
DOPEY2ENSG00000142197ENST00000399151p.A211Vc.632C>TSubstitution - Missense
KRTAP4-6ENSG00000198090ENST00000345847p.R106Rc.318T>CSubstitution - coding silent
APPENSG00000142192ENST00000346798p.P520Hc.1559C>ASubstitution - Missense
RAPGEFL1ENSG00000108352ENST00000264644p.P365fs*2c.1090delCDeletion - Frameshift
ATP2A3ENSG00000074370ENST00000352011p.P571fs*21c.1712delCDeletion - Frameshift
ENST00000377747_v68p.S52Sc.156C>TSubstitution - coding silent
STAC2ENSG00000141750ENST00000333461p.P254Sc.760C>TSubstitution - Missense
NM_025134.3p.G1398Vc.4193G>TSubstitution - Missense
FTOENSG00000140718ENST00000471389p.C326Yc.977G>ASubstitution - Missense
AMFRENSG00000159461ENST00000290649p.A617Vc.1850C>TSubstitution - Missense
NUP93ENSG00000102900ENST00000308159p.K633Qc.1897A>CSubstitution - Missense
CPNE2ENSG00000140848ENST00000290776p.L134_N135insLc.402_403insCTGInsertion - In frame
CPNE2ENSG00000140848ENST00000290776p.N279fs*12c.832delADeletion - Frameshift
COQ9ENSG00000088682ENST00000262507p.H114Hc.342C>TSubstitution - coding silent
PPLENSG00000118898ENST00000345988p.V1114Ic.3340G>ASubstitution - Missense
PPLENSG00000118898ENST00000345988p.I310Mc.930C>GSubstitution - Missense
ZNF423ENSG00000102935ENST00000262383p.A258Sc.772G>TSubstitution - Missense
ZNF423ENSG00000102935ENST00000561648p.A258Sc.772G>TSubstitution - Missense
SALL1ENSG00000103449ENST00000251020p.P476Sc.1426C>TSubstitution - Missense
CDKL2ENSG00000138769ENST00000429927p.T446Ac.1336A>GSubstitution - Missense
CXCL11ENSG00000169248ENST00000306621p.T17Ac.49A>GSubstitution - Missense
SHROOM3ENSG00000138771ENST00000296043p.R414Qc.1241G>ASubstitution - Missense
AFAP1ENSG00000196526ENST00000420658p.A783Tc.2347G>ASubstitution - Missense
AFAP1ENSG00000196526ENST00000360265p.A699Tc.2095G>ASubstitution - Missense
ALBENSG00000163631ENST00000295897p.V486Mc.1456G>ASubstitution - Missense
CXCL1ENSG00000163739ENST00000395761p.A28Vc.83C>TSubstitution - Missense
UGT2B28ENSG00000135226ENST00000335568p.A321Tc.961G>ASubstitution - Missense
ROBO2ENSG00000185008ENST00000461745p.V706fs*1c.2112delGDeletion - Frameshift
ROBO2ENSG00000185008ENST00000487694p.T744Tc.2232G>ASubstitution - coding silent
CADM2ENSG00000175161ENST00000405615p.?c.1195+10A>GUnknown
C3orf38ENSG00000179021ENST00000318887p.L21Vc.61C>GSubstitution - Missense
EPHA3ENSG00000044524ENST00000336596p.?c.1306+4A>TUnknown
CNTN3ENSG00000113805ENST00000263665p.W351Lc.1052G>TSubstitution - Missense
ADRA2BENSG00000222040ENST00000409345p.G152Gc.456C>TSubstitution - coding silent
STARD7ENSG00000084090ENST00000337288p.S291Nc.872G>ASubstitution - Missense
STARD7ENSG00000084090ENST00000337288p.N240Nc.720C>TSubstitution - coding silent
NCAPHENSG00000121152ENST00000240423p.A354Tc.1060G>ASubstitution - Missense
POLR1AENSG00000068654ENST00000263857p.?c.5062+8C>TUnknown
POLR1AENSG00000068654ENST00000263857p.A441Ac.1323G>ASubstitution - coding silent
MBOAT2ENSG00000143797ENST00000305997p.I511Vc.1531A>GSubstitution - Missense
KRTAP10-5ENSG00000241123ENST00000400372p.C168fs*>104c.501delCDeletion - Frameshift
ENST00000397787p.A97Ac.291G>ASubstitution - coding silent
COL18A1ENSG00000182871ENST00000359759p.Y483Yc.1449C>TSubstitution - coding silent
COL6A2ENSG00000142173ENST00000300527p.R569Qc.1706G>ASubstitution - Missense
COL6A2ENSG00000142173ENST00000310645p.R569Qc.1706G>ASubstitution - Missense
COL6A2ENSG00000142173ENST00000300527p.L976Sc.2927T>CSubstitution - Missense
TFF2ENSG00000160181ENST00000291526p.A10Vc.29C>TSubstitution - Missense
UBASH3AENSG00000160185ENST00000319294p.C327Cc.981C>TSubstitution - coding silent
SLC37A1ENSG00000160190ENST00000352133p.T256Mc.767C>TSubstitution - Missense
SIK1ENSG00000142178ENST00000270162p.H275Rc.824A>GSubstitution - Missense
RRP1BENSG00000160208ENST00000340648p.G367Gc.1101A>GSubstitution - coding silent
RRP1BENSG00000160208ENST00000340648p.?c.2020-3C>TUnknown
PWP2ENSG00000241945ENST00000291576p.T438Tc.1314C>TSubstitution - coding silent
ICOSLGENSG00000160223ENST00000407780p.A27Vc.80C>TSubstitution - Missense
TSPEARENSG00000175894ENST00000323084p.R134Cc.400C>TSubstitution - Missense
C21orf88ENSG00000184809ENST00000380612p.P38Lc.113C>TSubstitution - Missense
B3GALT5ENSG00000183778ENST00000380618p.D306Dc.918T>CSubstitution - coding silent
IGSF5ENSG00000183067ENST00000380588p.W71*c.213G>ASubstitution - Nonsense
BRWD1ENSG00000185658ENST00000333229p.S653Ic.1958G>TSubstitution - Missense
MSR1ENSG00000038945ENST00000262101p.P33Tc.97C>ASubstitution - Missense
ENST00000360660p.A87Tc.259G>ASubstitution - Missense
KIAA1875ENSG00000179698ENST00000323662p.S542Fc.1625C>TSubstitution - Missense
DGAT1ENSG00000185000ENST00000332324p.G229Ec.686G>ASubstitution - Missense
CPSF1ENSG00000071894ENST00000349769p.G1116Gc.3348C>TSubstitution - coding silent
PLECENSG00000178209ENST00000322810p.P3207Pc.9621C>TSubstitution - coding silent
PLECENSG00000178209ENST00000345136p.P3070Pc.9210C>TSubstitution - coding silent
PLECENSG00000178209ENST00000354958p.P3048Pc.9144C>TSubstitution - coding silent
CYP3A4ENSG00000160868ENST00000336411p.V296Mc.886G>ASubstitution - Missense
CYP11B2ENSG00000179142ENST00000323110p.R448Rc.1344C>ASubstitution - coding silent
CYP11B2ENSG00000179142ENST00000323110p.V290Mc.868G>ASubstitution - Missense
MROH6ENSG00000204839ENST00000398882p.E121Dc.363G>TSubstitution - Missense
SU_Erk7p.G532fs*>32c.1590delGDeletion - Frameshift
TRRAPENSG00000196367ENST00000359863p.?c.1036+4C>TUnknown
TRRAPENSG00000196367ENST00000359863p.S2658Nc.7973G>ASubstitution - Missense
ARPC1BENSG00000130429ENST00000252725p.G186Vc.557G>TSubstitution - Missense
ZNF394ENSG00000160908ENST00000337673p.F112Lc.334T>CSubstitution - Missense
ZSCAN25ENSG00000197037ENST00000394152p.Q262Hc.786G>TSubstitution - Missense
FAM133BENSG00000234545ENST00000445716p.R132Gc.394A>GSubstitution - Missense
FAM133BENSG00000234545ENST00000445716p.R132Gc.394A>GSubstitution - Missense
SAMD9LENSG00000177409ENST00000318238p.I818Ic.2454C>ASubstitution - coding silent
CASD1ENSG00000127995ENST00000297273p.F563Sc.1688T>CSubstitution - Missense
EPHB6ENSG00000106123ENST00000392957p.V792Ac.2375T>CSubstitution - Missense
C7orf63ENSG00000105792ENST00000316089p.C763Cc.2289C>TSubstitution - coding silent
ERVW-1ENSG00000242950ENST00000493463p.R70Cc.208C>TSubstitution - Missense
PEX1ENSG00000127980ENST00000248633p.D681Gc.2042A>GSubstitution - Missense
TAS2R5ENSG00000127366ENST00000247883p.A237Sc.709G>TSubstitution - Missense
TRIM24ENSG00000122779ENST00000343526p.?c.1705-2A>GUnknown
SVOPLENSG00000157703ENST00000419765p.*493Rc.1477T>CNonstop extension
ENST00000242365_v65p.S1877Sc.5631C>TSubstitution - coding silent
BTN1A1ENSG00000124557ENST00000244513p.L293Lc.879C>TSubstitution - coding silent
NUP205ENSG00000155561ENST00000285968p.L727Lc.2181G>ASubstitution - coding silent
HIST1H2BBENSG00000196226ENST00000357905p.A111Tc.331G>ASubstitution - Missense
HIST1H3CENSG00000196532ENST00000540144p.L61Lc.183G>ASubstitution - coding silent
HIST1H1TENSG00000187475ENST00000338379p.A65Vc.194C>TSubstitution - Missense
HIST1H2BFENSG00000197846ENST00000359985p.L101Lc.301C>TSubstitution - coding silent
HIST1H4EENSG00000198518ENST00000360441p.T72Ac.214A>GSubstitution - Missense
THBS2ENSG00000186340ENST00000366787p.P785Pc.2355T>CSubstitution - coding silent
THBS2ENSG00000186340ENST00000366787p.S147Sc.441G>ASubstitution - coding silent
ID4ENSG00000172201ENST00000378700p.C160Yc.479G>ASubstitution - Missense
ENST00000273600p.P2429Sc.7285C>TSubstitution - Missense
ENST00000273600p.I4033Ic.12099C>ASubstitution - coding silent
NT5DC2ENSG00000168268ENST00000307076p.R464Cc.1390C>TSubstitution - Missense
NT5DC2ENSG00000168268ENST00000307076p.D218Dc.654C>TSubstitution - coding silent
RNF123ENSG00000164068ENST00000327697p.D1064Dc.3192C>TSubstitution - coding silent
AMIGO3ENSG00000176020ENST00000320431p.L230Mc.688C>ASubstitution - Missense
AMIGO3ENSG00000176020ENST00000320431p.H32Dc.94C>GSubstitution - Missense
TRAIPENSG00000183763ENST00000331456p.D351Vc.1052A>TSubstitution - Missense
MST1RENSG00000164078ENST00000296474p.R535Cc.1603C>TSubstitution - Missense
MST1RENSG00000164078ENST00000296474p.R535Cc.1603C>TSubstitution - Missense
GNAI2ENSG00000114353ENST00000313601p.S144Sc.432A>GSubstitution - coding silent
IFRD2ENSG00000214706ENST00000336089p.I533Ic.1599C>TSubstitution - coding silent
HYAL1ENSG00000114378ENST00000395144p.R46Rc.138G>ASubstitution - coding silent
CACNA2D2ENSG00000007402ENST00000424201p.N153Sc.458A>GSubstitution - Missense
LAMB2ENSG00000172037ENST00000305544p.A36Vc.107C>TSubstitution - Missense
BSNENSG00000164061ENST00000296452p.G904Gc.2712C>TSubstitution - coding silent
BSNENSG00000164061ENST00000296452p.T1309fs*62c.3918delCDeletion - Frameshift
BSNENSG00000164061ENST00000296452p.A3040Tc.9118G>ASubstitution - Missense
RHOHENSG00000168421ENST00000505618p.L149Lc.445C>TSubstitution - coding silent
LYARENSG00000145220ENST00000343470p.K148Ec.442A>GSubstitution - Missense
ZNF721ENSG00000182903ENST00000511833p.A85Tc.253G>ASubstitution - Missense
GUF1ENSG00000151806ENST00000281543p.L646fs*8c.1934_1935insAInsertion - Frameshift
ERGENSG00000157554ENST00000417133p.S55Sc.165C>TSubstitution - coding silent
NM_032457.1p.G1143Sc.3427G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.K7701fs*18c.23103delADeletion - Frameshift
NM_003319p.K7509fs*18c.22527delADeletion - Frameshift
TTNENSG00000155657ENST00000342992p.C16971Yc.50912G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.C10599Yc.31796G>ASubstitution - Missense
ENST00000356127p.C16969Yc.50906G>ASubstitution - Missense
PDE11AENSG00000128655ENST00000286063p.?c.2245-1G>TUnknown
OSBPL6ENSG00000079156ENST00000392505p.I808Kc.2423T>ASubstitution - Missense
PLEKHA3ENSG00000116095ENST00000234453p.W8Rc.22T>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.E32997Kc.98989G>ASubstitution - Missense
ENST00000356127p.E32995Kc.98983G>ASubstitution - Missense
NM_003319p.E26500Kc.79498G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.P30626Lc.91877C>TSubstitution - Missense
ENST00000356127p.P30624Lc.91871C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.P24321Lc.72962C>TSubstitution - Missense
NM_003319p.P24129Lc.72386C>TSubstitution - Missense
PDK1ENSG00000152256ENST00000282077p.Q197Hc.591G>TSubstitution - Missense
ENSG00000091436ENST00000338983p.G23Sc.67G>ASubstitution - Missense
ENSG00000091436ENST00000409176p.G23Sc.67G>ASubstitution - Missense
SP3ENSG00000172845ENST00000310015p.Y632Hc.1894T>CSubstitution - Missense
CLTCL1ENSG00000070371ENST00000263200p.V1633Mc.4897G>ASubstitution - Missense
CLTCL1ENSG00000070371ENST00000263200p.A126Vc.377C>TSubstitution - Missense
C22orf29ENSG00000215012ENST00000328554p.L42fs*7c.124_125insCInsertion - Frameshift
ARVCFENSG00000099889ENST00000263207p.T838Ac.2512A>GSubstitution - Missense
GAD1ENSG00000128683ENST00000375272p.N108Nc.324C>TSubstitution - coding silent
SLC25A12ENSG00000115840ENST00000422440p.?c.1586-10C>AUnknown
CCT8L2ENSG00000198445ENST00000359963p.T212fs*11c.633delGDeletion - Frameshift
IL17RAENSG00000177663ENST00000319363p.T408Mc.1223C>TSubstitution - Missense
ENST00000375935p.L32Lc.96C>TSubstitution - coding silent
PLAGL2ENSG00000126003ENST00000246229p.L418Lc.1252C>TSubstitution - coding silent
ASXL1ENSG00000171456ENST00000306058p.N5Sc.14A>GSubstitution - Missense
C20orf112ENSG00000197183ENST00000359676p.?c.387+4T>CUnknown
LSSENSG00000160285ENST00000397728p.T586Tc.1758C>ASubstitution - coding silent
PPP6R1ENSG00000105063ENST00000412770p.P872Pc.2616G>ASubstitution - coding silent
PYGBENSG00000100994ENST00000216962p.?c.1093-3T>CUnknown
TMC2ENSG00000149488ENST00000358864p.S140Fc.419C>TSubstitution - Missense
NINLENSG00000101004ENST00000278886p.S154Sc.462A>CSubstitution - coding silent
VPS16ENSG00000215305ENST00000380445p.M421Ic.1263G>ASubstitution - Missense
DEFB115ENSG00000215547ENST00000400552p.R44Kc.131G>ASubstitution - Missense
DEFB121ENSG00000204548ENST00000376314p.G25Dc.74G>ASubstitution - Missense
KIR3DL2ENSG00000240403ENST00000326321p.?c.950-10C>TUnknown
EPS8L1ENSG00000131037ENST00000201647p.D488Vc.1463A>TSubstitution - Missense
SPIRE1ENSG00000134278ENST00000409402p.L641Lc.1921T>CSubstitution - coding silent
MIB1ENSG00000101752ENST00000261537p.R123Hc.368G>ASubstitution - Missense
GNALENSG00000141404ENST00000334049p.D395Ec.1185T>ASubstitution - Missense
GNALENSG00000141404ENST00000423027p.D318Ec.954T>ASubstitution - Missense
CDH20ENSG00000101542ENST00000262717p.A226Vc.677C>TSubstitution - Missense
KIAA1468ENSG00000134444ENST00000398130p.N875Dc.2623A>GSubstitution - Missense
ENST00000262719_v68p.T622Ac.1864A>GSubstitution - Missense
PHLPP1ENSG00000081913ENST00000400316p.T109Ac.325A>GSubstitution - Missense
TCEB3BENSG00000206181ENST00000332567p.K26fs*2c.77delADeletion - Frameshift
ENST00000420275p.T241Tc.723C>TSubstitution - coding silent
MYO5BENSG00000167306ENST00000285039p.D1004Dc.3012C>TSubstitution - coding silent
ATP5A1ENSG00000152234ENST00000398752p.R88Sc.264G>TSubstitution - Missense
NM_007332.1p.V942Ac.2825T>CSubstitution - Missense
SPAG11BENSG00000164871ENST00000398462p.Q87*c.259C>TSubstitution - Nonsense
STAU2ENSG00000040341ENST00000524300p.K274fs*22c.822delADeletion - Frameshift
STAU2ENSG00000040341ENST00000521210p.K170fs*22c.510delADeletion - Frameshift
STAU2ENSG00000040341ENST00000355780p.K242fs*22c.726delADeletion - Frameshift
MTUS1ENSG00000129422ENST00000297488p.?c.121+10G>AUnknown
PCM1ENSG00000078674ENST00000325083p.P1584Pc.4752A>GSubstitution - coding silent
PSD3ENSG00000156011ENST00000327040p.L449fs*33c.1346delTDeletion - Frameshift
NCOA2ENSG00000140396ENST00000452400p.R81Cc.241C>TSubstitution - Missense
TONSLENSG00000160949ENST00000409379p.Q284Qc.852G>ASubstitution - coding silent
ENST00000292562_v68p.E68Ec.204G>ASubstitution - coding silent
COL20A1ENSG00000101203ENST00000358894p.L342fs*44c.1023delCDeletion - Frameshift
KCNQ2ENSG00000075043ENST00000359125p.P335Pc.1005G>ASubstitution - coding silent
EEF1A2ENSG00000101210ENST00000298049p.T22Ic.65C>TSubstitution - Missense
ZGPATENSG00000197114ENST00000328969p.R397fs*34c.1183delCDeletion - Frameshift
COL9A3ENSG00000092758ENST00000343916p.P556Pc.1668C>ASubstitution - coding silent
ZNF677ENSG00000197928ENST00000333952p.T503Ic.1508C>TSubstitution - Missense
ZNF845ENSG00000213799ENST00000458035p.R79Hc.236G>ASubstitution - Missense
NLRP12ENSG00000142405ENST00000324134p.R135Rc.405G>ASubstitution - coding silent
NLRP12ENSG00000142405ENST00000345770p.R135Rc.405G>ASubstitution - coding silent
ZNF808ENSG00000198482ENST00000359798p.C740Yc.2219G>ASubstitution - Missense
ZNF701ENSG00000167562ENST00000540331p.E223Kc.667G>ASubstitution - Missense
MYH3ENSG00000109063ENST00000226209p.I731Vc.2191A>GSubstitution - Missense
RPL13ENSG00000167526ENST00000393099p.?c.421-8A>GUnknown
CPNE7ENSG00000178773ENST00000268720p.D562Dc.1686C>TSubstitution - coding silent
CPNE7ENSG00000178773ENST00000268720p.Q579Qc.1737G>ASubstitution - coding silent
MC1RENSG00000258839ENST00000555147p.R142Cc.424C>TSubstitution - Missense
PRDM7ENSG00000126856ENST00000449207p.Q338*c.1012C>TSubstitution - Nonsense
MYH4ENSG00000264424ENST00000255381p.E1522Dc.4566G>TSubstitution - Missense
CA5AENSG00000174990ENST00000309893p.?c.774+6C>TUnknown
ZC3H18ENSG00000158545ENST00000301011p.K771Ec.2311A>GSubstitution - Missense
CTU2ENSG00000174177ENST00000453996p.?c.1353-4G>AUnknown
CTU2ENSG00000174177ENST00000312060p.?c.1353-4G>AUnknown
ZNF778ENSG00000170100ENST00000433976p.V300Ac.899T>CSubstitution - Missense
ZNF778ENSG00000170100ENST00000306502p.V258Ac.773T>CSubstitution - Missense
MGRN1ENSG00000102858ENST00000262370p.R456Rc.1366C>ASubstitution - coding silent
METTL22ENSG00000067365ENST00000381920p.G368Dc.1103G>ASubstitution - Missense
NLRC3ENSG00000167984ENST00000301749p.?c.2742-1G>AUnknown
CREBBPENSG00000005339ENST00000262367p.V605Mc.1813G>ASubstitution - Missense
SRLENSG00000185739ENST00000399609p.D301Dc.903C>TSubstitution - coding silent
SRLENSG00000185739ENST00000399609p.V223Vc.669C>TSubstitution - coding silent
ZNF668ENSG00000167394ENST00000539836p.A174Tc.520G>ASubstitution - Missense
ITGAXENSG00000140678ENST00000268296p.A447Vc.1340C>TSubstitution - Missense
ITGADENSG00000156886ENST00000389202p.F626Sc.1877T>CSubstitution - Missense
ARMC5ENSG00000140691ENST00000457010p.A590Ac.1770G>ASubstitution - coding silent
SLC5A2ENSG00000140675ENST00000330498p.T543Mc.1628C>TSubstitution - Missense
NXPE3ENSG00000144815ENST00000273347p.?c.922+3delaUnknown
MYH15ENSG00000144821ENST00000273353p.T1119Mc.3356C>TSubstitution - Missense
MYH15ENSG00000144821ENST00000273353p.F777fs*12c.2331delTDeletion - Frameshift
MYH15ENSG00000144821ENST00000273353p.R724*c.2170C>TSubstitution - Nonsense
MORC1ENSG00000114487ENST00000232603p.Q343Hc.1029A>CSubstitution - Missense
TMEM45AENSG00000181458ENST00000323523p.?c.404-10T>CUnknown
ABI3BPENSG00000154175ENST00000471714p.P648Lc.1943C>TSubstitution - Missense
FANCD2ENSG00000144554ENST00000287647p.I850Vc.2548A>GSubstitution - Missense
VWA3BENSG00000168658ENST00000477737p.Q559Qc.1677A>GSubstitution - coding silent
HADHAENSG00000084754ENST00000380649p.I702Ic.2106C>TSubstitution - coding silent
GPR113ENSG00000173567ENST00000333478p.L265Lc.795C>ASubstitution - coding silent
DRC1ENSG00000157856ENST00000288710p.?c.1600-1G>TUnknown
C2orf54ENSG00000172478ENST00000388934p.N41Nc.123C>TSubstitution - coding silent
PASKENSG00000115687ENST00000234040p.L932Ic.2794C>ASubstitution - Missense
PASKENSG00000115687ENST00000234040p.L932Ic.2794C>ASubstitution - Missense
RAPH1ENSG00000173166ENST00000319170p.L782Pc.2345T>CSubstitution - Missense
PARD3BENSG00000116117ENST00000351153p.S92fs*14c.269_270insCInsertion - Frameshift
HDAC4ENSG00000068024ENST00000345617p.H939Rc.2816A>GSubstitution - Missense
ANKMY1ENSG00000144504ENST00000391987p.?c.2374-4G>AUnknown
ANKMY1ENSG00000144504ENST00000361678p.?c.1702-4G>AUnknown
STRADBENSG00000082146ENST00000194530p.?c.721-9G>AUnknown
MPP4ENSG00000082126ENST00000409474p.P320Pc.960G>ASubstitution - coding silent
MPP4ENSG00000082126ENST00000409474p.P320Pc.960G>ASubstitution - coding silent
FZD7ENSG00000155760ENST00000286201p.R281Hc.842G>ASubstitution - Missense
ENSG00000182329ENST00000295844p.K156Ec.466A>GSubstitution - Missense
SGOL2ENSG00000163535ENST00000357799p.N498Sc.1493A>GSubstitution - Missense
HECW2ENSG00000138411ENST00000260983p.R1427Cc.4279C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.K14006fs*18c.42018delADeletion - Frameshift
ENST00000356127p.K14006fs*18c.42018delADeletion - Frameshift
ZNF703ENSG00000183779ENST00000331569p.P76Sc.226C>TSubstitution - Missense
DUSP26ENSG00000133878ENST00000256261p.?c.222-10C>TUnknown
CSMD1ENSG00000183117ENST00000537824p.A435Ac.1305A>GSubstitution - coding silent
ENST00000318252p.A164Ac.492A>GSubstitution - coding silent
UNC5DENSG00000156687ENST00000404895p.D308Vc.923A>TSubstitution - Missense
DCTN6ENSG00000104671ENST00000221114p.S185Sc.555A>GSubstitution - coding silent
WDFY3ENSG00000163625ENST00000295888p.?c.305-9G>TUnknown
ARHGAP24ENSG00000138639ENST00000395184p.T206Mc.617C>TSubstitution - Missense
ARHGAP24ENSG00000138639ENST00000264343p.T113Mc.338C>TSubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.A1601Vc.4802C>TSubstitution - Missense
FRAS1ENSG00000138759ENST00000325942p.A1601Vc.4802C>TSubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.R2781Hc.8342G>ASubstitution - Missense
TBCKENSG00000145348ENST00000273980p.S374Sc.1122G>ASubstitution - coding silent
COL25A1ENSG00000188517ENST00000399126p.R441Mc.1322G>TSubstitution - Missense
ST3GAL6ENSG00000064225ENST00000394162p.H272Hc.816C>TSubstitution - coding silent
FILIP1LENSG00000168386ENST00000354552p.P882Pc.2646C>GSubstitution - coding silent
DNAJB14ENSG00000164031ENST00000442697p.L369Lc.1107A>GSubstitution - coding silent
FGFRL1ENSG00000127418ENST00000398484p.P378Pc.1134C>TSubstitution - coding silent
ENST00000542622p.P348Pc.1044C>TSubstitution - coding silent
EPHA6ENSG00000080224ENST00000389672p.P163Lc.488C>TSubstitution - Missense
SU_EPHA6p.P69Lc.206C>TSubstitution - Missense
ENST00000338994p.P69Lc.206C>TSubstitution - Missense
BRPF1ENSG00000156983ENST00000383829p.F362Fc.1086C>TSubstitution - coding silent
BDH1ENSG00000161267ENST00000392378p.?c.562+8G>TUnknown
LRCH3ENSG00000186001ENST00000334859p.R481Rc.1443A>GSubstitution - coding silent
LRCH3ENSG00000186001ENST00000438796p.R481Rc.1443A>GSubstitution - coding silent
LRCH3ENSG00000186001ENST00000425562p.R481Rc.1443A>GSubstitution - coding silent
UBXN7ENSG00000163960ENST00000296328p.A192Vc.575C>TSubstitution - Missense
SENP5ENSG00000119231ENST00000323460p.?c.1807-9C>AUnknown
ENST00000405167p.T2191Ic.6572C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S2056Lc.6167C>TSubstitution - Missense
ENST00000405167p.S2056Lc.6167C>TSubstitution - Missense
ENST00000405167p.T3204Tc.9612C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T2991Ic.8972C>TSubstitution - Missense
ENST00000405167p.T3739Ic.11216C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S3738Fc.11213C>TSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.E3273Kc.9817G>ASubstitution - Missense
HEATR5BENSG00000008869ENST00000233099p.V1644Ac.4931T>CSubstitution - Missense
ENST00000405167p.Q4160Lc.12479A>TSubstitution - Missense
ALKENSG00000171094ENST00000389048p.C928fs*11c.2781delGDeletion - Frameshift
RASD2ENSG00000100302ENST00000216127p.K223Tc.668A>CSubstitution - Missense
TRIM54ENSG00000138100ENST00000296098p.D53Nc.157G>ASubstitution - Missense
NM_032546.2p.D37Nc.109G>ASubstitution - Missense
PLA2G3ENSG00000100078ENST00000215885p.A429Vc.1286C>TSubstitution - Missense
PLA2G3ENSG00000100078ENST00000215885p.A429Vc.1286C>TSubstitution - Missense
PATZ1ENSG00000100105ENST00000215919p.I363Ic.1089C>ASubstitution - coding silent
PRR14LENSG00000183530ENST00000397493p.C1908Cc.5724C>TSubstitution - coding silent
SYN3ENSG00000185666ENST00000358763p.R511Wc.1531C>TSubstitution - Missense
TIMP3ENSG00000100234ENST00000266085p.D202fs*2c.602_603insCInsertion - Frameshift
ENST00000333679p.?c.1010+8G>AUnknown
RFPL1ENSG00000128250ENST00000354373p.L296*c.887T>ASubstitution - Nonsense
SEC14L6ENSG00000214491ENST00000402034p.N223Sc.668A>GSubstitution - Missense
DUSP18ENSG00000167065ENST00000404885p.V182Dc.545T>ASubstitution - Missense
SAMSN1ENSG00000155307ENST00000400566p.R236Qc.707G>ASubstitution - Missense
SAMSN1ENSG00000155307ENST00000285670p.R304Qc.911G>ASubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.A175fs*57c.523delGDeletion - Frameshift
HPS4ENSG00000100099ENST00000336873p.K212Kc.636G>ASubstitution - coding silent
HPS4ENSG00000100099ENST00000398141p.K207Kc.621G>ASubstitution - coding silent
EWSR1ENSG00000182944ENST00000414183p.R460Wc.1378C>TSubstitution - Missense
ZNF512BENSG00000196700ENST00000369888p.K859Kc.2577G>ASubstitution - coding silent
ZNF512BENSG00000196700ENST00000369888p.V270Ac.809T>CSubstitution - Missense
PRPF6ENSG00000101161ENST00000266079p.P282Lc.845C>TSubstitution - Missense
NKAIN4ENSG00000101198ENST00000370316p.?c.617+6T>CUnknown
ARFGAP1ENSG00000101199ENST00000353546p.A343Ac.1029T>GSubstitution - coding silent
ANKRD33BENSG00000164236ENST00000296657p.V137Mc.409G>ASubstitution - Missense
CTNND2ENSG00000169862ENST00000304623p.R1063Cc.3187C>TSubstitution - Missense
ENST00000391338_v68p.N293Nc.879C>TSubstitution - coding silent
ZRSR1ENSG00000212643ENST00000391338p.N293Nc.879C>TSubstitution - coding silent
NKD2ENSG00000145506ENST00000537972p.A273Tc.817G>ASubstitution - Missense
GORASP1ENSG00000114745ENST00000319283p.R101Cc.301C>TSubstitution - Missense
GOLGA4ENSG00000144674ENST00000361924p.N1353Nc.4059T>CSubstitution - coding silent
ITGA9ENSG00000144668ENST00000264741p.T554Mc.1661C>TSubstitution - Missense
SLC22A13ENSG00000172940ENST00000311856p.P304Lc.911C>TSubstitution - Missense
XYLBENSG00000093217ENST00000207870p.T163Tc.489G>ASubstitution - coding silent
ENST00000333535_v68p.F1679Fc.5037C>TSubstitution - coding silent
ENST00000333535_v68p.Q641fs*3c.1921delCDeletion - Frameshift
STT3BENSG00000163527ENST00000295770p.?c.315-4C>GUnknown
TRANK1ENSG00000168016ENST00000429976p.R2917Wc.8749C>TSubstitution - Missense
TRANK1ENSG00000168016ENST00000428977p.R2367Wc.7099C>TSubstitution - Missense
TRANK1ENSG00000168016ENST00000429976p.A1650Dc.4949C>ASubstitution - Missense
KCNF1ENSG00000162975ENST00000295082p.L452Pc.1355T>CSubstitution - Missense
ANAPC1ENSG00000153107ENST00000341068p.A1703Vc.5108C>TSubstitution - Missense
IL1RL2ENSG00000115598ENST00000264257p.K482Kc.1446G>ASubstitution - coding silent
IL18RAPENSG00000115607ENST00000264260p.I578Fc.1732A>TSubstitution - Missense
TGFBRAP1ENSG00000135966ENST00000258449p.G789Sc.2365G>ASubstitution - Missense
REV1ENSG00000135945ENST00000258428p.C426*c.1278C>ASubstitution - Nonsense
CPSF4LENSG00000187959ENST00000397671p.A146Dc.437C>ASubstitution - Missense
NEURL4ENSG00000215041ENST00000315614p.L1189Lc.3565C>TSubstitution - coding silent
KCTD11ENSG00000213859ENST00000333751p.R99fs*16c.291delCDeletion - Frameshift
CD300LFENSG00000186074ENST00000326165p.G24Sc.70G>ASubstitution - Missense
ZBTB45ENSG00000119574ENST00000354590p.A158Dc.473C>ASubstitution - Missense
TRIM28ENSG00000130726ENST00000253024p.R767Hc.2300G>ASubstitution - Missense
BCL6BENSG00000161940ENST00000293805p.P383Pc.1149G>ASubstitution - coding silent
ZIK1ENSG00000171649ENST00000307468p.E40Ec.120G>ASubstitution - coding silent
ZNF211ENSG00000121417ENST00000544273p.C498Rc.1492T>CSubstitution - Missense
ZNF671ENSG00000083814ENST00000317398p.L257Lc.771T>GSubstitution - coding silent
FUT3ENSG00000171124ENST00000303225p.A180Tc.538G>ASubstitution - Missense
ZNF274ENSG00000171606ENST00000345813p.D240Gc.719A>GSubstitution - Missense
ZNF549ENSG00000121406ENST00000376233p.R249Hc.746G>ASubstitution - Missense
NLRP5ENSG00000171487ENST00000390649p.T680Tc.2040C>TSubstitution - coding silent
ENST00000342088p.A286Vc.857C>TSubstitution - Missense
ENST00000342088p.C277Cc.831C>TSubstitution - coding silent
RBM3ENSG00000102317ENST00000430348p.A135Tc.403G>ASubstitution - Missense
WDR13ENSG00000101940ENST00000218056p.R242Hc.725G>ASubstitution - Missense
GPR173ENSG00000184194ENST00000332582p.R169Qc.506G>ASubstitution - Missense
GPR173ENSG00000184194ENST00000332582p.R169Qc.506G>ASubstitution - Missense
DYNLT3ENSG00000165169ENST00000378578p.?c.73-8C>TUnknown
USP9XENSG00000124486ENST00000324545p.A2481fs*17c.7440_7441insAInsertion - Frameshift
MAOAENSG00000189221ENST00000338702p.E290Gc.869A>GSubstitution - Missense
RP2ENSG00000102218ENST00000218340p.E205Kc.613G>ASubstitution - Missense
JADE3ENSG00000102221ENST00000397189p.L310Sc.929T>CSubstitution - Missense
UBA1ENSG00000130985ENST00000377351p.G271Cc.811G>TSubstitution - Missense
ZNF157ENSG00000147117ENST00000377073p.H376Nc.1126C>ASubstitution - Missense
ELK1ENSG00000126767ENST00000247161p.L48fs*8c.141delGDeletion - Frameshift
FAM47AENSG00000185448ENST00000346193p.P192Pc.576C>TSubstitution - coding silent
XM_098980.6p.G589Gc.1767A>GSubstitution - coding silent
FAM47CENSG00000198173ENST00000358047p.R391Hc.1172G>ASubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.R391Hc.1172G>ASubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.P539Sc.1615C>TSubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.P587Pc.1761C>ASubstitution - coding silent
FAM47CENSG00000198173ENST00000358047p.K588Ec.1762A>GSubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.K588Ec.1762A>GSubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.P608Pc.1824G>ASubstitution - coding silent
FAM47CENSG00000198173ENST00000358047p.P608Pc.1824G>ASubstitution - coding silent
FAM47CENSG00000198173ENST00000358047p.K660Ec.1978A>GSubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.E672Dc.2016G>TSubstitution - Missense
XKENSG00000047597ENST00000378616p.T19Tc.57G>ASubstitution - coding silent
PRKDCENSG00000253729ENST00000314191p.R2403Hc.7208G>ASubstitution - Missense
SLC22A2ENSG00000112499ENST00000366953p.V41Ac.122T>CSubstitution - Missense
SLC22A3ENSG00000146477ENST00000275300p.R466*c.1396C>TSubstitution - Nonsense
MYLIPENSG00000007944ENST00000356840p.V335Ic.1003G>ASubstitution - Missense
MAP3K4ENSG00000085511ENST00000392142p.?c.4806+2deltUnknown
ARID1BENSG00000049618ENST00000346085p.P715Sc.2143C>TSubstitution - Missense
ARID1BENSG00000049618ENST00000275248p.P644Sc.1930C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.K1644Rc.4931A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.?c.4788+3A>GUnknown
SYNE1ENSG00000131018ENST00000265368p.?c.4788+3A>GUnknown
SYNE1ENSG00000131018ENST00000423061p.?c.4809+3A>GUnknown
OPRM1ENSG00000112038ENST00000434900p.I417Vc.1249A>GSubstitution - Missense
RMND1ENSG00000155906ENST00000367303p.R362Cc.1084C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.S5082Ic.15245G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.S5082Ic.15245G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.S5011Ic.15032G>TSubstitution - Missense
AKAP12ENSG00000131016ENST00000402676p.T646Tc.1938C>TSubstitution - coding silent
TXLNBENSG00000164440ENST00000358430p.A490Tc.1468G>ASubstitution - Missense
LTV1ENSG00000135521ENST00000367576p.K474Rc.1421A>GSubstitution - Missense
STX11ENSG00000135604ENST00000367568p.S111Sc.333C>TSubstitution - coding silent
SHPRHENSG00000146414ENST00000367505p.G458fs*26c.1371delADeletion - Frameshift
GRM1ENSG00000152822ENST00000282753p.R304Wc.910C>TSubstitution - Missense
GRM1ENSG00000152822ENST00000392299p.R304Wc.910C>TSubstitution - Missense
CDH9ENSG00000113100ENST00000231021p.V318Lc.952G>CSubstitution - Missense
TARSENSG00000113407ENST00000265112p.L346fs*27c.1030delTDeletion - Frameshift
GFPT2ENSG00000131459ENST00000253778p.T385Tc.1155G>ASubstitution - coding silent
CCDC127ENSG00000164366ENST00000296824p.V245Vc.735C>TSubstitution - coding silent
NAA15ENSG00000164134ENST00000296543p.N670Sc.2009A>GSubstitution - Missense
TBC1D9BENSG00000197226ENST00000356834p.D1145Dc.3435C>TSubstitution - coding silent
SCLT1ENSG00000151466ENST00000281142p.K521Rc.1562A>GSubstitution - Missense
NKX3-2ENSG00000109705ENST00000382438p.A75Vc.224C>TSubstitution - Missense
C4orf21ENSG00000138658ENST00000309071p.D395Ec.1185T>ASubstitution - Missense
KIAA1109ENSG00000138688ENST00000264501p.L1130Lc.3390C>TSubstitution - coding silent
ANKRD28ENSG00000206560ENST00000383777p.T994Ac.2980A>GSubstitution - Missense
EGFENSG00000138798ENST00000265171p.V457Vc.1371A>GSubstitution - coding silent
C4orf21ENSG00000138658ENST00000505019p.D395Ec.1185T>ASubstitution - Missense
COLQENSG00000206561ENST00000383788p.K238Rc.713A>GSubstitution - Missense
GMPSENSG00000163655ENST00000496455p.N556Nc.1668C>TSubstitution - coding silent
C3orf20ENSG00000131379ENST00000253697p.P83Tc.247C>ASubstitution - Missense
CPA3ENSG00000163751ENST00000296046p.R273Qc.818G>ASubstitution - Missense
HPS3ENSG00000163755ENST00000296051p.R900Hc.2699G>ASubstitution - Missense
TGOLN2ENSG00000152291ENST00000377386p.H262Qc.786T>GSubstitution - Missense
RETSATENSG00000042445ENST00000295802p.A467Tc.1399G>ASubstitution - Missense
RETSATENSG00000042445ENST00000295802p.T466Sc.1397C>GSubstitution - Missense
MOGSENSG00000115275ENST00000233616p.R812Rc.2436C>TSubstitution - coding silent
MOGSENSG00000115275ENST00000233616p.Y560Cc.1679A>GSubstitution - Missense
AUP1ENSG00000115307ENST00000377526p.T154fs*8c.453_454insCInsertion - Frameshift
ZNF638ENSG00000075292ENST00000264447p.S1380Gc.4138A>GSubstitution - Missense
PSMB10ENSG00000205220ENST00000358514p.V46Lc.136G>TSubstitution - Missense
SMPD3ENSG00000103056ENST00000219334p.D607Dc.1821C>TSubstitution - coding silent
CDH3ENSG00000062038ENST00000429102p.N771Nc.2313T>CSubstitution - coding silent
ADD2ENSG00000075340ENST00000264436p.T403Mc.1208C>TSubstitution - Missense
ADD2ENSG00000075340ENST00000355733p.T403Mc.1208C>TSubstitution - Missense
ZDHHC1ENSG00000159714ENST00000348579p.K165fs*52c.494_498delAGTGGDeletion - Frameshift
ACDENSG00000102977ENST00000219251p.R205Cc.613C>TSubstitution - Missense
RAB40CENSG00000197562ENST00000535977p.Q271fs*>12c.811_812insCCInsertion - Frameshift
TSNAXIP1ENSG00000102904ENST00000388833p.R56Hc.167G>ASubstitution - Missense
CENPTENSG00000102901ENST00000445712p.L148Lc.444A>GSubstitution - coding silent
PIGQENSG00000007541ENST00000026218p.T110Sc.329C>GSubstitution - Missense
CA7ENSG00000168748ENST00000338437p.E119Kc.355G>ASubstitution - Missense
CES3ENSG00000172828ENST00000303334p.E541Dc.1623G>TSubstitution - Missense
CBFBENSG00000067955ENST00000412916p.A146Ac.438T>CSubstitution - coding silent
B3GNT9ENSG00000237172ENST00000449549p.G255Gc.765T>CSubstitution - coding silent
CCDC102AENSG00000135736ENST00000258214p.S202Sc.606C>TSubstitution - coding silent
GPR56ENSG00000205336ENST00000379696p.?c.769-7T>CUnknown
KIAA0930ENSG00000100364ENST00000336156p.D49Dc.147C>TSubstitution - coding silent
FBLN1ENSG00000077942ENST00000262722p.A599Vc.1796C>TSubstitution - Missense
IQSEC1ENSG00000144711ENST00000273221p.D234Dc.702C>TSubstitution - coding silent
COL6A6ENSG00000206384ENST00000358511p.S42Yc.125C>ASubstitution - Missense
ENST00000358511_v70p.A336Ac.1008C>TSubstitution - coding silent
CCDC134ENSG00000100147ENST00000255784p.?c.225+7G>AUnknown
SREBF2ENSG00000198911ENST00000361204p.M927Ic.2781G>ASubstitution - Missense
CYP2D6ENSG00000100197ENST00000360608p.A122Ac.366G>ASubstitution - coding silent
CYP2D6ENSG00000100197ENST00000360608p.D67Dc.201C>TSubstitution - coding silent
CYP2D6ENSG00000100197ENST00000359033p.D67Dc.201C>TSubstitution - coding silent
ALDH1L1ENSG00000144908ENST00000393434p.E429fs*60c.1285delGDeletion - Frameshift
ZXDCENSG00000070476ENST00000389709p.P417Pc.1251G>ASubstitution - coding silent
ZXDCENSG00000070476ENST00000336332p.P417Pc.1251G>ASubstitution - coding silent
GFPT1ENSG00000198380ENST00000361060p.G646Gc.1938C>ASubstitution - coding silent
AAK1ENSG00000115977ENST00000409085p.Q545_Q546delQQc.1614_1619delGCAACADeletion - In frame
NM_014911p.Q545_Q546delQQc.1614_1619delGCAACADeletion - In frame
DIRC2ENSG00000138463ENST00000261038p.S355Lc.1064C>TSubstitution - Missense
USP34ENSG00000115464ENST00000398571p.S280Sc.840G>ASubstitution - coding silent
CEP68ENSG00000011523ENST00000377990p.E415Qc.1243G>CSubstitution - Missense
MTIF2ENSG00000085760ENST00000394600p.D350Ec.1050T>ASubstitution - Missense
CCDC88AENSG00000115355ENST00000336838p.Q1567Ec.4699C>GSubstitution - Missense
BCL11AENSG00000119866ENST00000356842p.S627Rc.1881C>ASubstitution - Missense
SH3BP4ENSG00000130147ENST00000344528p.V175Mc.523G>ASubstitution - Missense
COL6A3ENSG00000163359ENST00000295550p.P1590Tc.4768C>ASubstitution - Missense
SCLYENSG00000132330ENST00000254663p.A242Vc.725C>TSubstitution - Missense
ECEL1ENSG00000171551ENST00000304546p.?c.1407+9C>TUnknown
UGT1A4ENSG00000244474ENST00000373409p.L9fs*57c.20delTDeletion - Frameshift
DOCK10ENSG00000135905ENST00000258390p.T2003Mc.6008C>TSubstitution - Missense
RNF25ENSG00000163481ENST00000295704p.M336Ic.1008G>ASubstitution - Missense
CDK5R2ENSG00000171450ENST00000302625p.Q228Ec.682C>GSubstitution - Missense
CCDC108ENSG00000181378ENST00000341552p.?c.2349+6C>TUnknown
FAM134AENSG00000144567ENST00000430297p.N409Sc.1226A>GSubstitution - Missense
ERCC3ENSG00000163161ENST00000285398p.Y579Yc.1737T>CSubstitution - coding silent
PROCENSG00000115718ENST00000234071p.E329Ec.987G>ASubstitution - coding silent
VIL1ENSG00000127831ENST00000248444p.V240Mc.718G>ASubstitution - Missense
GREB1ENSG00000196208ENST00000381486p.Y738Hc.2212T>CSubstitution - Missense
TFCP2L1ENSG00000115112ENST00000263707p.?c.1393+6G>AUnknown
ENST00000381114p.V2302Vc.6906C>TSubstitution - coding silent
NM_006343p.R909Cc.2725C>TSubstitution - Missense
GYG2ENSG00000056998ENST00000381163p.S263Sc.789G>ASubstitution - coding silent
DCAF8L1ENSG00000226372ENST00000441525p.D585Ec.1755T>ASubstitution - Missense
NR0B1ENSG00000169297ENST00000378970p.G44Ac.131G>CSubstitution - Missense
DMDENSG00000198947ENST00000357033p.A3030Ac.9090C>TSubstitution - coding silent
DMDENSG00000198947ENST00000378677p.A3026Ac.9078C>TSubstitution - coding silent
DMDENSG00000198947ENST00000378707p.A570Ac.1710C>TSubstitution - coding silent
DMDENSG00000198947ENST00000378677p.A3026Ac.9078C>TSubstitution - coding silent
SYAP1ENSG00000169895ENST00000380155p.K98Kc.294G>ASubstitution - coding silent
RS1ENSG00000102104ENST00000379984p.R191Wc.571C>TSubstitution - Missense
SU_SK681p.R340Hc.1019G>ASubstitution - Missense
RPS6KA3ENSG00000177189ENST00000379565p.K367Kc.1101A>GSubstitution - coding silent
ZNF645ENSG00000175809ENST00000323684p.R154Rc.462T>CSubstitution - coding silent
ZNF645ENSG00000175809ENST00000323684p.T402Mc.1205C>TSubstitution - Missense
FLNAENSG00000196924ENST00000369850p.A1908Vc.5723C>TSubstitution - Missense
FLNAENSG00000196924ENST00000369850p.A1908Vc.5723C>TSubstitution - Missense
FLNAENSG00000196924ENST00000369850p.V1127Mc.3379G>ASubstitution - Missense
FLNAENSG00000196924ENST00000369850p.V1127Mc.3379G>ASubstitution - Missense
FLNAENSG00000196924ENST00000369850p.V552Ic.1654G>ASubstitution - Missense
GDI1ENSG00000203879ENST00000447750p.D196Dc.588C>TSubstitution - coding silent
SLC10A3ENSG00000126903ENST00000263512p.S458Sc.1374C>TSubstitution - coding silent
SUN1ENSG00000164828ENST00000456758p.F546Lc.1636T>CSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.A162Tc.484G>ASubstitution - Missense
SEMA3EENSG00000170381ENST00000307792p.S703Sc.2109G>ASubstitution - coding silent
ICA1ENSG00000003147ENST00000402384p.A295Ac.885C>TSubstitution - coding silent
WIPF3ENSG00000122574ENST00000409290p.A342Vc.1025C>TSubstitution - Missense
GUSBENSG00000169919ENST00000304895p.K368Nc.1104G>CSubstitution - Missense
PLOD3ENSG00000106397ENST00000223127p.L432Mc.1294C>ASubstitution - Missense
ZNHIT1ENSG00000106400ENST00000305105p.R27Hc.80G>ASubstitution - Missense
FBXL13ENSG00000161040ENST00000436908p.R503Cc.1507C>TSubstitution - Missense
SLC26A5ENSG00000170615ENST00000306312p.A740Ac.2220C>TSubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.A2896Vc.8687C>TSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.Q1903Pc.5708A>CSubstitution - Missense
ZCWPW1ENSG00000078487ENST00000398027p.R393Hc.1178G>ASubstitution - Missense
ACTL6BENSG00000077080ENST00000160382p.T281Tc.843A>GSubstitution - coding silent
SLC12A9ENSG00000146828ENST00000354161p.P708Hc.2123C>ASubstitution - Missense
ACHEENSG00000087085ENST00000302913p.R327Qc.980G>ASubstitution - Missense
ACHEENSG00000087085ENST00000412389p.R327Qc.980G>ASubstitution - Missense
ENSG00000214732ENST00000372963p.N66Ic.197A>TSubstitution - Missense
TRERF1ENSG00000124496ENST00000372922p.I949Ic.2847C>TSubstitution - coding silent
CUL7ENSG00000044090ENST00000265348p.A754Tc.2260G>ASubstitution - Missense
CUL7ENSG00000044090ENST00000265348p.A394Sc.1180G>TSubstitution - Missense
MDGA1ENSG00000112139ENST00000297153p.?c.2414-9T>CUnknown
MDGA1ENSG00000112139ENST00000434837p.?c.2402-9T>CUnknown
PAPD4ENSG00000164329ENST00000296783p.F246Cc.737T>GSubstitution - Missense
ZNF76ENSG00000065029ENST00000373953p.Q432fs*4c.1289delCDeletion - Frameshift
TULP1ENSG00000112041ENST00000229771p.R419fs*3c.1255delCDeletion - Frameshift
SLC26A8ENSG00000112053ENST00000355574p.N160Nc.480C>TSubstitution - coding silent
SLC26A8ENSG00000112053ENST00000355574p.H59Hc.177C>TSubstitution - coding silent
C6orf89ENSG00000198663ENST00000355190p.G32Sc.94G>ASubstitution - Missense
POLKENSG00000122008ENST00000515295p.F299Lc.895T>CSubstitution - Missense
IQGAP2ENSG00000145703ENST00000274364p.R714Qc.2141G>ASubstitution - Missense
DMGDHENSG00000132837ENST00000255189p.Y695Yc.2085T>CSubstitution - coding silent
JMYENSG00000152409ENST00000396137p.V241Mc.721G>ASubstitution - Missense
NAIPENSG00000249437ENST00000517649p.T194Mc.581C>TSubstitution - Missense
PTCD2ENSG00000049883ENST00000380639p.C39Cc.117C>TSubstitution - coding silent
PLXNB1ENSG00000164050ENST00000296440p.R1048Cc.3142C>TSubstitution - Missense
PLXNB1ENSG00000164050ENST00000296440p.P794Lc.2381C>TSubstitution - Missense
TREX1ENSG00000213689ENST00000422277p.H226Hc.678C>TSubstitution - coding silent
TMEM89ENSG00000183396ENST00000330862p.Y29Yc.87C>TSubstitution - coding silent
SLC26A6ENSG00000225697ENST00000395550p.?c.1529+9G>AUnknown
CELSR3ENSG00000008300ENST00000164024p.D540Gc.1619A>GSubstitution - Missense
MAST4ENSG00000069020ENST00000403625p.?c.763+3A>GUnknown
MAST4ENSG00000069020ENST00000405643p.?c.217+3A>GUnknown
MAST4ENSG00000069020ENST00000405643p.W588Lc.1763G>TSubstitution - Missense
NBEAL2ENSG00000160796ENST00000450053p.A208Tc.622G>ASubstitution - Missense
NBEAL2ENSG00000160796ENST00000450053p.S638Sc.1914C>TSubstitution - coding silent
ZKSCAN7ENSG00000196345ENST00000273320p.L83Lc.249C>TSubstitution - coding silent
ZNF197ENSG00000186448ENST00000344387p.R69Qc.206G>ASubstitution - Missense
ZNF197ENSG00000186448ENST00000344387p.S255Pc.763T>CSubstitution - Missense
KIF15ENSG00000163808ENST00000326047p.R912Hc.2735G>ASubstitution - Missense
CLEC3BENSG00000163815ENST00000296130p.V125Lc.373G>TSubstitution - Missense
FYCO1ENSG00000163820ENST00000296137p.S1336Sc.4008G>ASubstitution - coding silent
CCR3ENSG00000183625ENST00000357422p.R196Rc.588G>ASubstitution - coding silent
LTFENSG00000012223ENST00000231751p.P178Sc.532C>TSubstitution - Missense
XM_371474.2p.G762Gc.2286G>TSubstitution - coding silent
SBF1ENSG00000100241ENST00000390679p.S968Nc.2903G>ASubstitution - Missense
SBF1ENSG00000100241ENST00000390679p.V869Ac.2606T>CSubstitution - Missense
SBF1ENSG00000100241ENST00000390679p.L769Pc.2306T>CSubstitution - Missense
MIOXENSG00000100253ENST00000216075p.P259Tc.775C>ASubstitution - Missense
TOPAZ1ENSG00000173769ENST00000309765p.N1330fs*3c.3983_3984insAInsertion - Frameshift
ENST00000436261_v68p.R400Qc.1199G>ASubstitution - Missense
CELSR1ENSG00000075275ENST00000262738p.E644Kc.1930G>ASubstitution - Missense
BRD1ENSG00000100425ENST00000216267p.R91Cc.271C>TSubstitution - Missense
PANX2ENSG00000073150ENST00000395842p.P241Hc.722C>ASubstitution - Missense
PANX2ENSG00000073150ENST00000159647p.P241Hc.722C>ASubstitution - Missense
MAPK11ENSG00000185386ENST00000449719p.L185Mc.553C>ASubstitution - Missense
EFCAB6ENSG00000186976ENST00000262726p.A116Ac.348T>GSubstitution - coding silent
PRR5ENSG00000186654ENST00000403581p.V149Mc.445G>ASubstitution - Missense
NM_181334.1p.A320Ac.960C>ASubstitution - coding silent
DHX34ENSG00000134815ENST00000328771p.T339Tc.1017G>ASubstitution - coding silent
KPTNENSG00000118162ENST00000338134p.?c.599+10G>TUnknown
MARK4ENSG00000007047ENST00000262891p.P235Pc.705G>ASubstitution - coding silent
MARK4ENSG00000007047ENST00000300843p.P235Pc.705G>ASubstitution - coding silent
CD3EAPENSG00000117877ENST00000309424p.Q131*c.391C>TSubstitution - Nonsense
DMPKENSG00000104936ENST00000343373p.R344Qc.1031G>ASubstitution - Missense
SYMPKENSG00000125755ENST00000245934p.P939Lc.2816C>TSubstitution - Missense
CCDC8ENSG00000169515ENST00000307522p.T229Tc.687C>TSubstitution - coding silent
AP3D1ENSG00000065000ENST00000345016p.R182Rc.546C>TSubstitution - coding silent
ZNF708ENSG00000182141ENST00000356929p.?c.226+6T>CUnknown
CRTC1ENSG00000105662ENST00000321949p.S572fs*4c.1705_1706insCInsertion - Frameshift
UPF1ENSG00000005007ENST00000262803p.G49fs*45c.139delCDeletion - Frameshift
DDX49ENSG00000105671ENST00000247003p.?c.929+5G>AUnknown
TMEM161AENSG00000064545ENST00000162044p.A52Ac.156G>ASubstitution - coding silent
NCANENSG00000130287ENST00000252575p.T30Tc.90C>TSubstitution - coding silent
MAU2ENSG00000129933ENST00000392313p.A610Tc.1828G>ASubstitution - Missense
ZNF101ENSG00000181896ENST00000318110p.A157Vc.470C>TSubstitution - Missense
FCHO1ENSG00000130475ENST00000252771p.P671fs*47c.2009delCDeletion - Frameshift
IL12RB1ENSG00000096996ENST00000430026p.A317Ac.951T>CSubstitution - coding silent
IL12RB1ENSG00000096996ENST00000322153p.A317Ac.951T>CSubstitution - coding silent
IL12RB1ENSG00000096996ENST00000430026p.R54Lc.161G>TSubstitution - Missense
IL12RB1ENSG00000096996ENST00000322153p.R54Lc.161G>TSubstitution - Missense
ISYNA1ENSG00000105655ENST00000338128p.A154Tc.460G>ASubstitution - Missense
UBA52ENSG00000221983ENST00000442744p.R111Hc.332G>ASubstitution - Missense
CYSLTR1ENSG00000173198ENST00000373304p.T75Ic.224C>TSubstitution - Missense
COLGALT1ENSG00000130309ENST00000252599p.P514Pc.1542G>ASubstitution - coding silent
COLGALT1ENSG00000130309ENST00000252599p.T571Tc.1713C>TSubstitution - coding silent
UNC13AENSG00000130477ENST00000428389p.R1068Wc.3202C>TSubstitution - Missense
UNC13AENSG00000130477ENST00000519716p.R980Wc.2938C>TSubstitution - Missense
OGTENSG00000147162ENST00000373701p.A18Vc.53C>TSubstitution - Missense
ACRCENSG00000147174ENST00000373695p.D313Ec.939T>ASubstitution - Missense
ACRCENSG00000147174ENST00000373695p.V314Ac.941T>CSubstitution - Missense
ACRCENSG00000147174ENST00000373695p.E316Dc.948A>CSubstitution - Missense
ACRCENSG00000147174ENST00000373695p.K318Nc.954G>TSubstitution - Missense
STSENSG00000101846ENST00000217961p.?c.397+9A>GUnknown
ZDHHC15ENSG00000102383ENST00000373367p.Y324Hc.970T>CSubstitution - Missense
LAS1LENSG00000001497ENST00000374811p.G547Rc.1639G>ASubstitution - Missense
VSIG4ENSG00000155659ENST00000374737p.A392Tc.1174G>ASubstitution - Missense
GDPD2ENSG00000130055ENST00000453994p.E238Kc.712G>ASubstitution - Missense
FOXO4ENSG00000184481ENST00000374259p.L427Lc.1279C>TSubstitution - coding silent
IL2RGENSG00000147168ENST00000374202p.K315Kc.945G>ASubstitution - coding silent
WNK3ENSG00000196632ENST00000354646p.N1323Kc.3969T>ASubstitution - Missense
MAGED2ENSG00000102316ENST00000375068p.V331Ac.992T>CSubstitution - Missense
NM_152424.1p.R358Qc.1073G>ASubstitution - Missense
BNC2ENSG00000173068ENST00000380672p.N724Nc.2172C>TSubstitution - coding silent
SLC24A2ENSG00000155886ENST00000341998p.S29Rc.87T>GSubstitution - Missense
SMARCA2ENSG00000080503ENST00000349721p.R525Cc.1573C>TSubstitution - Missense
SMARCA2ENSG00000080503ENST00000349721p.R525Cc.1573C>TSubstitution - Missense
NDOR1ENSG00000188566ENST00000344894p.H113Yc.337C>TSubstitution - Missense
NDOR1ENSG00000188566ENST00000344894p.Q118*c.352C>TSubstitution - Nonsense
TUBB4BENSG00000188229ENST00000340384p.V5Vc.15G>ASubstitution - coding silent
TUBB4BENSG00000188229ENST00000340384p.S234Nc.701G>ASubstitution - Missense
PNPLA7ENSG00000130653ENST00000277531p.S296Sc.888C>TSubstitution - coding silent
FREM1ENSG00000164946ENST00000422223p.L827Lc.2479C>TSubstitution - coding silent
AUTS2ENSG00000158321ENST00000342771p.S1105Lc.3314C>TSubstitution - Missense
WBSCR17ENSG00000185274ENST00000333538p.Y147Cc.440A>GSubstitution - Missense
CALN1ENSG00000183166ENST00000329008p.F126fs*6c.378delTDeletion - Frameshift
TRIM50ENSG00000146755ENST00000333149p.I75Ic.225C>TSubstitution - coding silent
RNF216ENSG00000011275ENST00000389902p.R262Hc.785G>ASubstitution - Missense
USP42ENSG00000106346ENST00000306177p.T1137Nc.3410C>ASubstitution - Missense
XM_374396.2p.T1237Nc.3710C>ASubstitution - Missense
XM_374396.2p.A1368Tc.4102G>ASubstitution - Missense
DAGLBENSG00000164535ENST00000297056p.N327Nc.981C>TSubstitution - coding silent
ZNF92ENSG00000146757ENST00000328747p.S298Sc.894G>ASubstitution - coding silent
SNCAIPENSG00000064692ENST00000503116p.S127Sc.381G>ASubstitution - coding silent
WHSC1ENSG00000109685ENST00000503128p.G232Sc.694G>ASubstitution - Missense
LRP2BPENSG00000109771ENST00000328559p.R240Hc.719G>ASubstitution - Missense
CCDC110ENSG00000168491ENST00000307588p.S36Gc.106A>GSubstitution - Missense
SORBS2ENSG00000154556ENST00000284776p.E1044fs*>57c.3130delGDeletion - Frameshift
SORBS2ENSG00000154556ENST00000437304p.E768fs*>57c.2302delGDeletion - Frameshift
TLR3ENSG00000164342ENST00000296795p.K201fs*2c.597delADeletion - Frameshift
FAT1ENSG00000083857ENST00000441802p.S1782Rc.5346C>ASubstitution - Missense
TRIM2ENSG00000109654ENST00000338700p.I617Fc.1849A>TSubstitution - Missense
CC2D2AENSG00000048342ENST00000389652p.P290Pc.870C>TSubstitution - coding silent
NPY2RENSG00000185149ENST00000329476p.Y22Yc.66C>TSubstitution - coding silent
GUCY1A3ENSG00000164116ENST00000296518p.P499Lc.1496C>TSubstitution - Missense
NR3C2ENSG00000151623ENST00000358102p.R983Wc.2947C>TSubstitution - Missense
LRBAENSG00000198589ENST00000357115p.N2850Nc.8550C>TSubstitution - coding silent
FBXW7ENSG00000109670ENST00000263981p.G49fs*49c.144_145insAInsertion - Frameshift
TIGD4ENSG00000169989ENST00000304337p.N221Sc.662A>GSubstitution - Missense
TRPC1ENSG00000144935ENST00000273482p.K605Ic.1814A>TSubstitution - Missense
SCOCENSG00000153130ENST00000338517p.V97Ic.289G>ASubstitution - Missense
TBC1D9ENSG00000109436ENST00000442267p.R629Cc.1885C>TSubstitution - Missense
GAB1ENSG00000109458ENST00000262995p.A411Ec.1232C>ASubstitution - Missense
SMARCA5ENSG00000153147ENST00000283131p.K665Nc.1995G>TSubstitution - Missense
ARMC8ENSG00000114098ENST00000481646p.R627*c.1879C>TSubstitution - Nonsense
PRR23BENSG00000184814ENST00000329447p.Y155Yc.465C>TSubstitution - coding silent
SPSB4ENSG00000175093ENST00000310546p.P211Pc.633G>ASubstitution - coding silent
CPNE4ENSG00000196353ENST00000512055p.R224Hc.671G>ASubstitution - Missense
TOPBP1ENSG00000163781ENST00000260810p.K1380fs*11c.4140_4141delAADeletion - Frameshift
NM_007027.2p.K1293fs*11c.3879_3880delAADeletion - Frameshift
MSL2ENSG00000174579ENST00000309993p.V66Vc.198C>TSubstitution - coding silent
MAATS1ENSG00000183833ENST00000273390p.Y709Nc.2125T>ASubstitution - Missense
POPDC2ENSG00000121577ENST00000264231p.T114Tc.342G>ASubstitution - coding silent
HS6ST1ENSG00000136720ENST00000259241p.R335Rc.1005G>ASubstitution - coding silent
SMPD4ENSG00000136699ENST00000409031p.P730Pc.2190G>ASubstitution - coding silent
TUBA3DENSG00000075886ENST00000321253p.R2Rc.6C>TSubstitution - coding silent
GPR39ENSG00000183840ENST00000329321p.R53Qc.158G>ASubstitution - Missense
PHKG2ENSG00000156873ENST00000563588p.L286Pc.857T>CSubstitution - Missense
ENST00000331219p.S48Sc.144C>TSubstitution - coding silent
FBXL19ENSG00000099364ENST00000380310p.P300Lc.899C>TSubstitution - Missense
NM_019085.1p.P130Lc.389C>TSubstitution - Missense
SETD1AENSG00000099381ENST00000262519p.S1220Sc.3660T>CSubstitution - coding silent
HSD3B7ENSG00000099377ENST00000297679p.G17fs*26c.45_46delAGDeletion - Frameshift
SEZ6L2ENSG00000174938ENST00000308713p.R263Rc.789G>ASubstitution - coding silent
SEZ6L2ENSG00000174938ENST00000350527p.R193Rc.579G>ASubstitution - coding silent
ASPHD1ENSG00000174939ENST00000308748p.C314Cc.942C>TSubstitution - coding silent
YPEL3ENSG00000090238ENST00000398841p.P45fs*10c.128_129insAInsertion - Frameshift
ITGALENSG00000005844ENST00000356798p.?c.1503+7C>TUnknown
GSG1LENSG00000169181ENST00000447459p.W309*c.927G>ASubstitution - Nonsense
GSG1LENSG00000169181ENST00000380897p.W154*c.462G>ASubstitution - Nonsense
ATXN2LENSG00000168488ENST00000336783p.G234fs*33c.696delGDeletion - Frameshift
ATP2A1ENSG00000196296ENST00000357084p.A893Vc.2678C>TSubstitution - Missense
NTN5ENSG00000142233ENST00000270235p.R241Wc.721C>TSubstitution - Missense
FGF21ENSG00000105550ENST00000222157p.G71fs*13c.207delGDeletion - Frameshift
HSD17B14ENSG00000087076ENST00000263278p.A265Tc.793G>ASubstitution - Missense
BAXENSG00000087088ENST00000345358p.P130Lc.389C>TSubstitution - Missense
ENST00000398240p.V588Mc.1762G>ASubstitution - Missense
CEMP1ENSG00000205923ENST00000382350p.C57Cc.171C>TSubstitution - coding silent
PLIN3ENSG00000105355ENST00000221957p.A362Ac.1086C>ASubstitution - coding silent
LIG1ENSG00000105486ENST00000263274p.R387Hc.1160G>ASubstitution - Missense
ARRDC5ENSG00000205784ENST00000381781p.T283Tc.849G>ASubstitution - coding silent
PRKD2ENSG00000105287ENST00000291281p.T412Mc.1235C>TSubstitution - Missense
STRN4ENSG00000090372ENST00000263280p.A445Vc.1334C>TSubstitution - Missense
ENST00000317082_v61p.T409Ac.1225A>GSubstitution - Missense
SAE1ENSG00000142230ENST00000413379p.P282Pc.846C>TSubstitution - coding silent
C5AR1ENSG00000197405ENST00000355085p.R337Hc.1010G>ASubstitution - Missense
DHX34ENSG00000134815ENST00000328771p.T187Tc.561C>TSubstitution - coding silent
WISP3ENSG00000112761ENST00000361714p.D364Dc.1092T>CSubstitution - coding silent
HDAC2ENSG00000196591ENST00000398283p.R466Rc.1398C>TSubstitution - coding silent
COL10A1ENSG00000123500ENST00000327673p.F298Sc.893T>CSubstitution - Missense
DSEENSG00000111817ENST00000331677p.R6fs*94c.10_11delCADeletion - Frameshift
GCNT2ENSG00000111846ENST00000379597p.A48Tc.142G>ASubstitution - Missense
GCNT2ENSG00000111846ENST00000379597p.T133Tc.399G>ASubstitution - coding silent
BVESENSG00000112276ENST00000314641p.D304Dc.912C>TSubstitution - coding silent
FIG4ENSG00000112367ENST00000230124p.S240fs*22c.715delADeletion - Frameshift
FAM83FENSG00000133477ENST00000333407p.D299Nc.895G>ASubstitution - Missense
EP300ENSG00000100393ENST00000263253p.G59Sc.175G>ASubstitution - Missense
EP300ENSG00000100393ENST00000263253p.T1775fs*33c.5320delADeletion - Frameshift
ZC3H7BENSG00000100403ENST00000352645p.M886fs*41c.2652delCDeletion - Frameshift
CARD10ENSG00000100065ENST00000403299p.A660fs*58c.1973_1974insGInsertion - Frameshift
GALR3ENSG00000128310ENST00000249041p.A87Tc.259G>ASubstitution - Missense
MGAT3ENSG00000128268ENST00000341184p.D311Nc.931G>ASubstitution - Missense
PPANENSG00000130810ENST00000253107p.E229Kc.685G>ASubstitution - Missense
P2RY11ENSG00000244165ENST00000321826p.V132Vc.396G>ASubstitution - coding silent
DNMT1ENSG00000130816ENST00000340748p.V1527Ic.4579G>ASubstitution - Missense
ABCA7ENSG00000064687ENST00000263094p.?c.67-9C>AUnknown
ZGLP1ENSG00000220201ENST00000403903p.A121Tc.361G>ASubstitution - Missense
APOL1ENSG00000100342ENST00000319136p.?c.363-7T>CUnknown
TMPRSS6ENSG00000187045ENST00000346753p.L732Mc.2194C>ASubstitution - Missense
PTPRMENSG00000173482ENST00000332175p.G3Gc.9A>GSubstitution - coding silent
SALL3ENSG00000256463ENST00000537592p.*1301Wc.3902A>GNonstop extension
NFATC1ENSG00000131196ENST00000329101p.L563Lc.1687C>TSubstitution - coding silent
NFATC1ENSG00000131196ENST00000591814p.L576Lc.1726C>TSubstitution - coding silent
NFATC1ENSG00000131196ENST00000329101p.S828Lc.2483C>TSubstitution - Missense
PARD6GENSG00000178184ENST00000353265p.A274Vc.821C>TSubstitution - Missense
TXNDC2ENSG00000168454ENST00000306084p.P150Pc.450C>GSubstitution - coding silent
TXNDC2ENSG00000168454ENST00000357775p.P83Pc.249C>GSubstitution - coding silent
GRIN3BENSG00000116032ENST00000234389p.T661Tc.1983G>ASubstitution - coding silent
ARHGAP28ENSG00000088756ENST00000400091p.V711Ac.2132T>CSubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.P1513Pc.4539G>ASubstitution - coding silent
ZNF407ENSG00000215421ENST00000582337p.E82Ec.246G>ASubstitution - coding silent
ZADH2ENSG00000180011ENST00000322342p.Y237Cc.710A>GSubstitution - Missense
TMX3ENSG00000166479ENST00000299608p.V309Ac.926T>CSubstitution - Missense
CHD1ENSG00000153922ENST00000284049p.S1580Sc.4740T>CSubstitution - coding silent
CPXCR1ENSG00000147183ENST00000276127p.E73Gc.218A>GSubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.A602Tc.1804G>ASubstitution - Missense
TTC37ENSG00000198677ENST00000358746p.R570Rc.1710A>GSubstitution - coding silent
VCANENSG00000038427ENST00000265077p.R1011Hc.3032G>ASubstitution - Missense
BRD9ENSG00000028310ENST00000323510p.S452Pc.1354T>CSubstitution - Missense
RAPGEF6ENSG00000158987ENST00000509018p.E431Kc.1291G>ASubstitution - Missense
RAPGEF6ENSG00000158987ENST00000307984p.E431Kc.1291G>ASubstitution - Missense
UBE2BENSG00000119048ENST00000265339p.L129Lc.387T>GSubstitution - coding silent
SEC24AENSG00000113615ENST00000398844p.P193Pc.579T>CSubstitution - coding silent
TXNDC15ENSG00000113621ENST00000358387p.P160Pc.480G>ASubstitution - coding silent
SLC25A48ENSG00000145832ENST00000274513p.S81Sc.243T>CSubstitution - coding silent
SLC25A48ENSG00000145832ENST00000412661p.S81Sc.243T>CSubstitution - coding silent
SLC12A2ENSG00000064651ENST00000262461p.G361Gc.1083G>ASubstitution - coding silent
SLC12A2ENSG00000064651ENST00000262461p.E1130Ec.3390A>GSubstitution - coding silent
FBN2ENSG00000138829ENST00000508053p.D2695Hc.8083G>CSubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.D2695Hc.8083G>CSubstitution - Missense
FBN2ENSG00000138829ENST00000508053p.P2085fs*164c.6254delCDeletion - Frameshift
TERTENSG00000164362ENST00000310581p.R743Qc.2228G>ASubstitution - Missense
NM_133638.1p.E973Ec.2919G>ASubstitution - coding silent
NM_133638.1p.T1060Tc.3180C>TSubstitution - coding silent
NM_198255.1p.S513Sc.1539C>TSubstitution - coding silent
RAPGEF6ENSG00000158987ENST00000509018p.T668Ac.2002A>GSubstitution - Missense
RAPGEF6ENSG00000158987ENST00000307984p.T668Ac.2002A>GSubstitution - Missense
RAPGEF6ENSG00000158987ENST00000308008p.T668Ac.2002A>GSubstitution - Missense
NM_016340.2p.T718Ac.2152A>GSubstitution - Missense
SNCAIPENSG00000064692ENST00000261368p.S80Sc.240G>ASubstitution - coding silent
SNCAIPENSG00000064692ENST00000379533p.S127Sc.381G>ASubstitution - coding silent
ETV4ENSG00000175832ENST00000319349p.R387Wc.1159C>TSubstitution - Missense
C17orf53ENSG00000125319ENST00000319977p.S179Nc.536G>ASubstitution - Missense
GRNENSG00000030582ENST00000053867p.D292Yc.874G>TSubstitution - Missense
HSPB9ENSG00000197723ENST00000355067p.G53Sc.157G>ASubstitution - Missense
KCNH4ENSG00000089558ENST00000264661p.S155Sc.465C>ASubstitution - coding silent
STAT5BENSG00000173757ENST00000293328p.L354Lc.1062G>ASubstitution - coding silent
STAT5AENSG00000126561ENST00000345506p.R429Wc.1285C>TSubstitution - Missense
ANKFY1ENSG00000185722ENST00000574367p.A705Tc.2113G>ASubstitution - Missense
ZZEF1ENSG00000074755ENST00000381638p.?c.4718+9G>AUnknown
JUPENSG00000173801ENST00000393930p.R377Hc.1130G>ASubstitution - Missense
ABCG8ENSG00000143921ENST00000272286p.P523Pc.1569A>GSubstitution - coding silent
PRKCEENSG00000171132ENST00000306156p.V588Mc.1762G>ASubstitution - Missense
TMEM247ENSG00000187600ENST00000434431p.L210fs*4c.626delTDeletion - Frameshift
SOS1ENSG00000115904ENST00000426016p.?c.976-5T>CUnknown
MAP4K3ENSG00000011566ENST00000263881p.V868Mc.2602G>ASubstitution - Missense
NM_139285.1p.R817Gc.2449A>GSubstitution - Missense
C17orf66ENSG00000172653ENST00000311880p.R419Gc.1255C>GSubstitution - Missense
TRPV3ENSG00000167723ENST00000576742p.V385Mc.1153G>ASubstitution - Missense
MYO19ENSG00000141140ENST00000431794p.T403Tc.1209C>TSubstitution - coding silent
OMGENSG00000126861ENST00000247271p.G251Wc.751G>TSubstitution - Missense
NM_006495.2p.G349*c.1045G>TSubstitution - Nonsense
ZNF207ENSG00000010244ENST00000321233p.F35Lc.105T>ASubstitution - Missense
CDK5R1ENSG00000176749ENST00000313401p.T3Tc.9G>ASubstitution - coding silent
MYO1DENSG00000176658ENST00000318217p.G749Gc.2247C>TSubstitution - coding silent
TMEM132EENSG00000181291ENST00000321639p.R694Rc.2082C>TSubstitution - coding silent
RAD51DENSG00000185379ENST00000394589p.M16Ic.48G>ASubstitution - Missense
RAD51DENSG00000185379ENST00000345365p.M16Ic.48G>ASubstitution - Missense
ANKRD6ENSG00000135299ENST00000339746p.G53Gc.159C>ASubstitution - coding silent
MDN1ENSG00000112159ENST00000369393p.Q5291Qc.15873G>ASubstitution - coding silent
MDN1ENSG00000112159ENST00000369393p.S3398Ic.10193G>TSubstitution - Missense
MMS22LENSG00000146263ENST00000275053p.P1036Lc.3107C>TSubstitution - Missense
RAP1GAP2ENSG00000132359ENST00000254695p.H465Hc.1395C>TSubstitution - coding silent
RAP1GAP2ENSG00000132359ENST00000254695p.H465Hc.1395C>TSubstitution - coding silent
NT5EENSG00000135318ENST00000257770p.M510Tc.1529T>CSubstitution - Missense
ZNF292ENSG00000188994ENST00000369577p.S881Gc.2641A>GSubstitution - Missense
RARS2ENSG00000146282ENST00000369536p.A468Sc.1402G>TSubstitution - Missense
PHIPENSG00000146247ENST00000275034p.Y984Yc.2952T>CSubstitution - coding silent
MYBENSG00000118513ENST00000367814p.D400Ec.1200T>GSubstitution - Missense
MYBENSG00000118513ENST00000341911p.D400Ec.1200T>GSubstitution - Missense
PTPRKENSG00000152894ENST00000368213p.T1035Ac.3103A>GSubstitution - Missense
PTPRKENSG00000152894ENST00000368226p.T1029Ac.3085A>GSubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.C1023Yc.3068G>ASubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.K2159Kc.6477A>GSubstitution - coding silent
SUSD1ENSG00000106868ENST00000374270p.V552Vc.1656G>ASubstitution - coding silent
MCM9ENSG00000111877ENST00000316316p.R959Rc.2877A>GSubstitution - coding silent
GJA1ENSG00000152661ENST00000282561p.G291Dc.872G>ASubstitution - Missense
SVEP1ENSG00000165124ENST00000401783p.F638fs*13c.1913delTDeletion - Frameshift
KIAA0368ENSG00000136813ENST00000259335p.K1728fs*6c.5184delADeletion - Frameshift
KIAA0368ENSG00000136813ENST00000259335p.?c.4711+1G>TUnknown
DMRT2ENSG00000173253ENST00000302441p.I214Ic.642T>CSubstitution - coding silent
COL14A1ENSG00000187955ENST00000297848p.A602Sc.1804G>TSubstitution - Missense
ZHX1ENSG00000165156ENST00000395571p.G772fs*5c.2315delGDeletion - Frameshift
EIF3HENSG00000147677ENST00000521861p.Y53Hc.157T>CSubstitution - Missense
RREB1ENSG00000124782ENST00000379938p.T1080Tc.3240C>TSubstitution - coding silent
RIMS1ENSG00000079841ENST00000521978p.R211Rc.633A>GSubstitution - coding silent
RIMS1ENSG00000079841ENST00000521978p.H573Yc.1717C>TSubstitution - Missense
DSPENSG00000096696ENST00000379802p.V947Ac.2840T>CSubstitution - Missense
FAM135AENSG00000082269ENST00000418814p.E419Gc.1256A>GSubstitution - Missense
FAM135AENSG00000082269ENST00000370479p.E402Gc.1205A>GSubstitution - Missense
DSTENSG00000151914ENST00000370769p.N2665Nc.7995T>CSubstitution - coding silent
ZNF451ENSG00000112200ENST00000370708p.R554Cc.1660C>TSubstitution - Missense
DSTENSG00000151914ENST00000244364p.T4093Tc.12279G>ASubstitution - coding silent
WASF1ENSG00000112290ENST00000392586p.M165Ic.495G>ASubstitution - Missense
METTL24ENSG00000053328ENST00000338882p.?c.557+7A>TUnknown
NM_016154.2p.T99Tc.297G>ASubstitution - coding silent
EGLN2ENSG00000269858ENST00000303961p.A57Vc.170C>TSubstitution - Missense
EGLN2ENSG00000269858ENST00000303961p.R187Qc.560G>ASubstitution - Missense
PLEKHG2ENSG00000090924ENST00000409794p.G894fs*152c.2679delGDeletion - Frameshift
PLEKHG2ENSG00000090924ENST00000458508p.G835fs*152c.2502delGDeletion - Frameshift
SUPT5HENSG00000196235ENST00000359191p.R1049Qc.3146G>ASubstitution - Missense
TIMM50ENSG00000105197ENST00000314349p.P29Lc.86C>TSubstitution - Missense
ZNF780AENSG00000197782ENST00000340963p.G507Gc.1521T>CSubstitution - coding silent
PLD3ENSG00000105223ENST00000359274p.V146Ic.436G>ASubstitution - Missense
NFKBIBENSG00000104825ENST00000313582p.T109Mc.326C>TSubstitution - Missense
ENST00000248668_v71p.Y562Fc.1685A>TSubstitution - Missense
LRFN1ENSG00000128011ENST00000248668p.Y514Fc.1541A>TSubstitution - Missense
ENST00000248668_v71p.R558Cc.1672C>TSubstitution - Missense
LRFN1ENSG00000128011ENST00000248668p.R510Cc.1528C>TSubstitution - Missense
SAMD4BENSG00000179134ENST00000314471p.A467Tc.1399G>ASubstitution - Missense
ROR2ENSG00000169071ENST00000375708p.P815Pc.2445G>ASubstitution - coding silent
RYR1ENSG00000196218ENST00000359596p.K4020Qc.12058A>CSubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.P1092Pc.3276G>ASubstitution - coding silent
RASEFENSG00000165105ENST00000376447p.R134*c.400C>TSubstitution - Nonsense
PCSK5ENSG00000099139ENST00000545128p.K110fs*41c.324delADeletion - Frameshift
VPS13AENSG00000197969ENST00000360280p.V2296Ac.6887T>CSubstitution - Missense
LCN12ENSG00000184925ENST00000371633p.F64Fc.192C>TSubstitution - coding silent
GPSM1ENSG00000160360ENST00000354753p.G380Ec.1139G>ASubstitution - Missense
DNLZENSG00000213221ENST00000371738p.R81Rc.243G>ASubstitution - coding silent
SDCCAG3ENSG00000165689ENST00000357365p.Y271Yc.813C>TSubstitution - coding silent
ADAMTS13ENSG00000160323ENST00000371929p.V605Mc.1813G>ASubstitution - Missense
VAV2ENSG00000160293ENST00000406606p.T453Tc.1359C>TSubstitution - coding silent
BRD3ENSG00000169925ENST00000303407p.S706Sc.2118C>TSubstitution - coding silent
POMT1ENSG00000130714ENST00000372228p.I674Ic.2022C>TSubstitution - coding silent
AK8ENSG00000165695ENST00000298545p.R262Rc.786T>CSubstitution - coding silent
AK8ENSG00000165695ENST00000298545p.R262Rc.786T>CSubstitution - coding silent
GTF3C5ENSG00000148308ENST00000372097p.P165Lc.494C>TSubstitution - Missense
SH3RF2ENSG00000156463ENST00000359120p.T93Mc.278C>TSubstitution - Missense
PPP2R2BENSG00000156475ENST00000336640p.T32Mc.95C>TSubstitution - Missense
PPP2R2BENSG00000156475ENST00000394413p.T29Mc.86C>TSubstitution - Missense
GOLIM4ENSG00000173905ENST00000470487p.R390Hc.1169G>ASubstitution - Missense
MECOMENSG00000085276ENST00000264674p.A687Tc.2059G>ASubstitution - Missense
MECOMENSG00000085276ENST00000392736p.A622Tc.1864G>ASubstitution - Missense
PHC3ENSG00000173889ENST00000495893p.?c.920-4A>GUnknown
SKILENSG00000136603ENST00000259119p.G151Wc.451G>TSubstitution - Missense
SIPA1L3ENSG00000105738ENST00000222345p.R502Hc.1505G>ASubstitution - Missense
CATSPERGENSG00000099338ENST00000312265p.?c.687+8G>CUnknown
SIENSG00000090402ENST00000264382p.?c.3100-7G>TUnknown
HAUS5ENSG00000249115ENST00000203166p.R315Wc.943C>TSubstitution - Missense
CACTINENSG00000105298ENST00000221899p.E446Ec.1338G>ASubstitution - coding silent
ENSG00000272333ENST00000222270p.P507Pc.1521G>ASubstitution - coding silent
KIRREL2ENSG00000126259ENST00000262625p.A513Ac.1539C>TSubstitution - coding silent
APLP1ENSG00000105290ENST00000221891p.?c.672-6C>TUnknown
TEX14ENSG00000121101ENST00000240361p.?c.136+10A>GUnknown
FZR1ENSG00000105325ENST00000441788p.R8Cc.22C>TSubstitution - Missense
SCN1BENSG00000105711ENST00000415950p.R163Wc.487C>TSubstitution - Missense
HMG20BENSG00000064961ENST00000333651p.R286Qc.857G>ASubstitution - Missense
OR4D1ENSG00000141194ENST00000268912p.V246Mc.736G>ASubstitution - Missense
MPOENSG00000005381ENST00000225275p.L621Pc.1862T>CSubstitution - Missense
MPOENSG00000005381ENST00000340482p.L653Pc.1958T>CSubstitution - Missense
MPOENSG00000005381ENST00000340482p.E56fs*8c.166delGDeletion - Frameshift
RABEP1ENSG00000029725ENST00000262477p.E686Kc.2056G>ASubstitution - Missense
ANKFN1ENSG00000153930ENST00000318698p.S88Nc.263G>ASubstitution - Missense
ANKFN1ENSG00000153930ENST00000318698p.M150Vc.448A>GSubstitution - Missense
AKAP1ENSG00000121057ENST00000337714p.A280Vc.839C>TSubstitution - Missense
C17orf104ENSG00000180336ENST00000409122p.F882fs*27c.2642delTDeletion - Frameshift
HEXIM1ENSG00000186834ENST00000332499p.P34fs*52c.96delCDeletion - Frameshift
HEXIM2ENSG00000168517ENST00000307275p.A82Tc.244G>ASubstitution - Missense
WFIKKN2ENSG00000173714ENST00000311378p.R290Qc.869G>ASubstitution - Missense
DPCR1ENSG00000168631ENST00000462446p.N431Nc.1293C>TSubstitution - coding silent
DPCR1ENSG00000168631ENST00000462446p.K1179*c.3535A>TSubstitution - Nonsense
HLA-FENSG00000204642ENST00000376861p.A157Vc.470C>TSubstitution - Missense
GNL1ENSG00000204590ENST00000376621p.D154Ec.462C>ASubstitution - Missense
TENM2ENSG00000145934ENST00000518659p.L1776Lc.5326C>TSubstitution - coding silent
TENM2ENSG00000145934ENST00000519204p.L1655Lc.4963C>TSubstitution - coding silent
HIST1H2AHENSG00000184825ENST00000377459p.L86Vc.256C>GSubstitution - Missense
HIST1H4JENSG00000197238ENST00000355057p.L98Lc.294C>TSubstitution - coding silent
ZSCAN31ENSG00000235109ENST00000439158p.G34Ac.101G>CSubstitution - Missense
MARCH11ENSG00000183654ENST00000332432p.V315Ac.944T>CSubstitution - Missense
TENM2ENSG00000145934ENST00000518659p.P1358Lc.4073C>TSubstitution - Missense
TENM2ENSG00000145934ENST00000519204p.P1237Lc.3710C>TSubstitution - Missense
ENST00000388903p.P1191Lc.3572C>TSubstitution - Missense
TENM2ENSG00000145934ENST00000518659p.G1451Gc.4353A>GSubstitution - coding silent
ENST00000388903p.G1284Gc.3852A>GSubstitution - coding silent
ENST00000544403p.E207*c.619G>TSubstitution - Nonsense
NM_023038.2p.?c.2244-8G>AUnknown
ADAM19ENSG00000135074ENST00000257527p.?c.2241-8G>AUnknown
ADAM19ENSG00000135074ENST00000257527p.?c.1909-3C>TUnknown
DCTN4ENSG00000132912ENST00000447998p.N427Sc.1280A>GSubstitution - Missense
DCTN4ENSG00000132912ENST00000447998p.R115Hc.344G>ASubstitution - Missense
SLC36A1ENSG00000123643ENST00000243389p.M192Tc.575T>CSubstitution - Missense
PCDHB4ENSG00000081818ENST00000194152p.N462Kc.1386C>ASubstitution - Missense
PCDHB4ENSG00000081818ENST00000194152p.T656Mc.1967C>TSubstitution - Missense
PCDHB6ENSG00000113211ENST00000231136p.S702Sc.2106G>ASubstitution - coding silent
ENST00000305759p.T569Tc.1707A>GSubstitution - coding silent
PCDHA13ENSG00000239389ENST00000289272p.L626Lc.1876C>TSubstitution - coding silent
PCDHA13ENSG00000239389ENST00000289272p.R646Hc.1937G>ASubstitution - Missense
PCDHB1ENSG00000171815ENST00000306549p.L795Fc.2385G>TSubstitution - Missense
HARS2ENSG00000112855ENST00000230771p.R492Wc.1474C>TSubstitution - Missense
PCDHA1ENSG00000204970ENST00000504120p.R151Rc.453T>GSubstitution - coding silent
PCDHA1ENSG00000204970ENST00000378133p.A166Tc.496G>ASubstitution - Missense
PCDHA1ENSG00000204970ENST00000378133p.A484Tc.1450G>ASubstitution - Missense
PCDHA1ENSG00000204970ENST00000504120p.R498Rc.1494G>ASubstitution - coding silent
PCDHA1ENSG00000204970ENST00000378133p.R498Rc.1494G>ASubstitution - coding silent
PCDHA2ENSG00000204969ENST00000378132p.S724Sc.2172G>ASubstitution - coding silent
PCDHA2ENSG00000204969ENST00000526136p.R732Rc.2196C>TSubstitution - coding silent
PCDHA2ENSG00000204969ENST00000378132p.R732Rc.2196C>TSubstitution - coding silent
PCDHA4ENSG00000204967ENST00000356878p.L210fs*7c.622_623insTInsertion - Frameshift
PCDHA6ENSG00000081842ENST00000529310p.Y518Hc.1552T>CSubstitution - Missense
ENST00000289630p.Y518Hc.1552T>CSubstitution - Missense
PCDHA4ENSG00000204967ENST00000378125p.A49Ac.147G>ASubstitution - coding silent
HSPA9ENSG00000113013ENST00000297185p.T333Ic.998C>TSubstitution - Missense
PAIP2ENSG00000120727ENST00000394795p.D85Gc.254A>GSubstitution - Missense
TMEM173ENSG00000184584ENST00000330794p.N152fs*19c.450delADeletion - Frameshift
CXXC5ENSG00000171604ENST00000302517p.A50Ac.150A>GSubstitution - coding silent
NRG2ENSG00000158458ENST00000361474p.Q192Qc.576G>ASubstitution - coding silent
ENST00000230993_v65p.S794fs*65c.2373_2374delGADeletion - Frameshift
SLC4A9ENSG00000113073ENST00000506757p.S770fs*65c.2301_2302delGADeletion - Frameshift
ABCD1ENSG00000101986ENST00000218104p.S262Sc.786G>ASubstitution - coding silent
SRPK3ENSG00000184343ENST00000489426p.P611Lc.1832C>TSubstitution - Missense
L1CAMENSG00000198910ENST00000370060p.L824Ic.2470C>ASubstitution - Missense
BRD8ENSG00000112983ENST00000230901p.F853Cc.2558T>GSubstitution - Missense
ATP2B3ENSG00000067842ENST00000349466p.R625Lc.1874G>TSubstitution - Missense
ATP2B3ENSG00000067842ENST00000359149p.R625Lc.1874G>TSubstitution - Missense
SPANXCENSG00000198573ENST00000358993p.V14Ic.40G>ASubstitution - Missense
STK17AENSG00000164543ENST00000319357p.T367Ac.1099A>GSubstitution - Missense
BLVRAENSG00000106605ENST00000265523p.R28Wc.82C>TSubstitution - Missense
GCKENSG00000106633ENST00000345378p.A260Tc.778G>ASubstitution - Missense
DDX26BENSG00000165359ENST00000370752p.P59fs*16c.172delCDeletion - Frameshift
NM_182540.2p.P59fs*16c.172delCDeletion - Frameshift
ARHGEF6ENSG00000129675ENST00000250617p.T504Ic.1511C>TSubstitution - Missense
EPDR1ENSG00000086289ENST00000559325p.L118Lc.352C>TSubstitution - coding silent
INHBAENSG00000122641ENST00000242208p.S225Sc.675C>TSubstitution - coding silent
ABCA3ENSG00000167972ENST00000301732p.?c.1286-8T>CUnknown
TSC2ENSG00000103197ENST00000219476p.R1713Hc.5138G>ASubstitution - Missense
RHOT2ENSG00000140983ENST00000315082p.D197Nc.589G>ASubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.G2448*c.7342G>TSubstitution - Nonsense
ENST00000331116p.D29Nc.85G>ASubstitution - Missense
DDX19AENSG00000168872ENST00000302243p.?c.604+10G>AUnknown
DDX19AENSG00000168872ENST00000302243p.?c.604+10G>AUnknown
FUKENSG00000157353ENST00000288078p.A294Vc.881C>TSubstitution - Missense
WWP2ENSG00000198373ENST00000359154p.Y499Hc.1495T>CSubstitution - Missense
UBR5ENSG00000104517ENST00000520539p.A2273Tc.6817G>ASubstitution - Missense
RP1L1ENSG00000183638ENST00000382483p.E2216Dc.6648G>TSubstitution - Missense
RP1L1ENSG00000183638ENST00000382483p.P109fs*29c.324_325insTInsertion - Frameshift
RIMS2ENSG00000176406ENST00000406091p.R840*c.2518C>TSubstitution - Nonsense
RIMS2ENSG00000176406ENST00000507740p.R632*c.1894C>TSubstitution - Nonsense
DCSTAMPENSG00000164935ENST00000297581p.L235fs*35c.700delTDeletion - Frameshift
ZFPM2ENSG00000169946ENST00000407775p.Q505Qc.1515A>GSubstitution - coding silent
FBXL18ENSG00000155034ENST00000453700p.L342Lc.1026G>ASubstitution - coding silent
NM_024963.2p.L342Lc.1026G>ASubstitution - coding silent
LANCL2ENSG00000132434ENST00000254770p.A405Ac.1215A>GSubstitution - coding silent
ZNF713ENSG00000178665ENST00000429591p.Q312Qc.936G>ASubstitution - coding silent
TAF6ENSG00000106290ENST00000344095p.S594fs*>84c.1779delCDeletion - Frameshift
TAF6ENSG00000106290ENST00000344095p.G101Gc.303C>TSubstitution - coding silent
STAG3ENSG00000066923ENST00000426455p.R662Qc.1985G>ASubstitution - Missense
RADILENSG00000157927ENST00000399583p.G120Gc.360C>TSubstitution - coding silent
RBAKENSG00000146587ENST00000396912p.Y443Cc.1328A>GSubstitution - Missense
COBLENSG00000106078ENST00000265136p.G1148Gc.3444C>TSubstitution - coding silent
PKD1L1ENSG00000158683ENST00000289672p.S876Sc.2628T>CSubstitution - coding silent
ENST00000450194p.R408Cc.1222C>TSubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.L396Lc.1188G>ASubstitution - coding silent
ENST00000319379p.L341Lc.1023G>ASubstitution - coding silent
ENST00000319379p.I746Ic.2238T>CSubstitution - coding silent
ABCA13ENSG00000179869ENST00000435803p.T1050Ic.3149C>TSubstitution - Missense
ENST00000319379p.T995Ic.2984C>TSubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.P4359fs*24c.13076delCDeletion - Frameshift
IGFBP3ENSG00000146674ENST00000275521p.Y186*c.558C>GSubstitution - Nonsense
GIMAP2ENSG00000106560ENST00000223293p.R71Gc.211A>GSubstitution - Missense
GIMAP2ENSG00000106560ENST00000223293p.R185Hc.554G>ASubstitution - Missense
AGAP3ENSG00000133612ENST00000397238p.R252Hc.755G>ASubstitution - Missense
AGAP3ENSG00000133612ENST00000473312p.R252Hc.755G>ASubstitution - Missense
GBX1ENSG00000164900ENST00000297537p.S213Sc.639C>TSubstitution - coding silent
CUL1ENSG00000055130ENST00000409469p.D362Gc.1085A>GSubstitution - Missense
ACTR3CENSG00000106526ENST00000252071p.G36Vc.107G>TSubstitution - Missense
REPIN1ENSG00000214022ENST00000489432p.K372Rc.1115A>GSubstitution - Missense
ZNF775ENSG00000196456ENST00000329630p.K486Kc.1458G>ASubstitution - coding silent
CTTNBP2ENSG00000077063ENST00000160373p.A772Vc.2315C>TSubstitution - Missense
CTTNBP2ENSG00000077063ENST00000160373p.E49Gc.146A>GSubstitution - Missense
CPED1ENSG00000106034ENST00000310396p.E131Gc.392A>GSubstitution - Missense
OR2A5ENSG00000221836ENST00000408906p.R220Sc.658C>ASubstitution - Missense
TMEM168ENSG00000146802ENST00000312814p.F230fs*4c.690delTDeletion - Frameshift
PPP1R3AENSG00000154415ENST00000284601p.N476fs*4c.1428delTDeletion - Frameshift
THSD7AENSG00000005108ENST00000423059p.R999Cc.2995C>TSubstitution - Missense
CAPZA2ENSG00000198898ENST00000361183p.R266Hc.797G>ASubstitution - Missense
CDHR3ENSG00000128536ENST00000542731p.?c.1826-10T>CUnknown
LAMB4ENSG00000091128ENST00000205386p.C788Fc.2363G>TSubstitution - Missense
LAMB4ENSG00000091128ENST00000205386p.G356Rc.1066G>ASubstitution - Missense
NFKBIL1ENSG00000204498ENST00000376148p.L52Pc.155T>CSubstitution - Missense
AIF1ENSG00000204472ENST00000376059p.Q19Qc.57G>ASubstitution - coding silent
GPANK1ENSG00000204438ENST00000375893p.L123Lc.369G>ASubstitution - coding silent
GPANK1ENSG00000204438ENST00000375893p.S97Yc.290C>ASubstitution - Missense
SRPK2ENSG00000135250ENST00000357311p.T660Ic.1979C>TSubstitution - Missense
DDX39BENSG00000198563ENST00000453105p.L114Lc.340C>TSubstitution - coding silent
C6orf136ENSG00000204564ENST00000293604p.H420Hc.1260C>TSubstitution - coding silent
DHX16ENSG00000204560ENST00000376442p.G422Gc.1266C>TSubstitution - coding silent
MDC1ENSG00000137337ENST00000376406p.P1117Lc.3350C>TSubstitution - Missense
INTS1ENSG00000164880ENST00000389470p.P413Lc.1238C>TSubstitution - Missense
EVC2ENSG00000173040ENST00000344408p.L460Pc.1379T>CSubstitution - Missense
C4orf50ENSG00000181215ENST00000531445p.D593Nc.1777G>ASubstitution - Missense
DDX1ENSG00000079785ENST00000381341p.H442Hc.1326C>TSubstitution - coding silent
ENST00000334328p.M134Ic.402G>TSubstitution - Missense
ENST00000359961p.K438fs*40c.1313delADeletion - Frameshift
PRPF40AENSG00000196504ENST00000354363p.K307fs*40c.920delADeletion - Frameshift
RPRMENSG00000177519ENST00000325926p.F75delFc.223_225delTTCDeletion - In frame
RIF1ENSG00000080345ENST00000444746p.D2108Gc.6323A>GSubstitution - Missense
NEBENSG00000183091ENST00000427231p.A7087Ac.21261C>TSubstitution - coding silent
NEBENSG00000183091ENST00000397345p.A7087Ac.21261C>TSubstitution - coding silent
NEBENSG00000183091ENST00000409198p.A5386Ac.16158C>TSubstitution - coding silent
NEBENSG00000183091ENST00000427231p.R6656Cc.19966C>TSubstitution - Missense
NEBENSG00000183091ENST00000397345p.R6656Cc.19966C>TSubstitution - Missense
NEBENSG00000183091ENST00000409198p.R4955Cc.14863C>TSubstitution - Missense
SLC12A5ENSG00000124140ENST00000243964p.V1061Mc.3181G>ASubstitution - Missense
SULF2ENSG00000196562ENST00000359930p.R656Qc.1967G>ASubstitution - Missense
SEMG2ENSG00000124157ENST00000372769p.G361Rc.1081G>ASubstitution - Missense
RBCK1ENSG00000125826ENST00000353660p.G315Gc.945C>TSubstitution - coding silent
MYBL2ENSG00000101057ENST00000217026p.W138Lc.413G>TSubstitution - Missense
GTSF1LENSG00000124196ENST00000373003p.P122fs*>27c.363delTDeletion - Frameshift
ENST00000348077p.?c.1512-6T>AUnknown
UBXN6ENSG00000167671ENST00000301281p.E432Kc.1294G>ASubstitution - Missense
ZNF227ENSG00000131115ENST00000313040p.H424fs*28c.1266delTDeletion - Frameshift
PLIN4ENSG00000167676ENST00000301286p.A799fs*6c.2395delGDeletion - Frameshift
PLIN4ENSG00000167676ENST00000301286p.A727fs*6c.2179delGDeletion - Frameshift
CDC25BENSG00000101224ENST00000245960p.S186Sc.558C>TSubstitution - coding silent
NM_021874.2p.S172Sc.516C>TSubstitution - coding silent
PANK2ENSG00000125779ENST00000316562p.?c.981+3A>GUnknown
ENST00000251268_v61p.D2160Hc.6478G>CSubstitution - Missense
CD177ENSG00000204936ENST00000378012p.Y100Cc.299A>GSubstitution - Missense
DMRTC2ENSG00000142025ENST00000269945p.Q306Hc.918G>TSubstitution - Missense
CD79AENSG00000105369ENST00000221972p.G6Ec.17G>ASubstitution - Missense
ATP1A3ENSG00000105409ENST00000302102p.?c.1630+4C>TUnknown
GRIK5ENSG00000105737ENST00000262895p.E176Kc.526G>ASubstitution - Missense
ZNF526ENSG00000167625ENST00000301215p.Q311Rc.932A>GSubstitution - Missense
ERFENSG00000105722ENST00000222329p.F144Lc.432C>ASubstitution - Missense
CICENSG00000079432ENST00000160740p.G525Gc.1575C>TSubstitution - coding silent
ENST00000251268_v61p.F426Sc.1277T>CSubstitution - Missense
TMEM38AENSG00000072954ENST00000187762p.S251Sc.753G>ASubstitution - coding silent
NWD1ENSG00000188039ENST00000524140p.R667Cc.1999C>TSubstitution - Missense
CPAMD8ENSG00000160111ENST00000291440p.A1343Vc.4028C>TSubstitution - Missense
PLVAPENSG00000130300ENST00000252590p.Q73Qc.219G>ASubstitution - coding silent
NOTCH3ENSG00000074181ENST00000263388p.P2249Pc.6747C>TSubstitution - coding silent
NOTCH3ENSG00000074181ENST00000263388p.P2249Pc.6747C>TSubstitution - coding silent
NOTCH3ENSG00000074181ENST00000263388p.G840Ec.2519G>ASubstitution - Missense
EPHX3ENSG00000105131ENST00000221730p.W180Cc.540G>TSubstitution - Missense
AKAP8ENSG00000105127ENST00000269701p.R338Cc.1012C>TSubstitution - Missense
PGLYRP2ENSG00000161031ENST00000340880p.V111Vc.333G>CSubstitution - coding silent
CYP4F8ENSG00000186526ENST00000325723p.G45Dc.134G>ASubstitution - Missense
ENST00000350356p.R329Wc.985C>TSubstitution - Missense
LPHN1ENSG00000072071ENST00000340736p.R49Wc.145C>TSubstitution - Missense
EMR2ENSG00000127507ENST00000315576p.R629Wc.1885C>TSubstitution - Missense
REEP6ENSG00000115255ENST00000233596p.R138Cc.412C>TSubstitution - Missense
REEP6ENSG00000115255ENST00000395484p.A205Vc.614C>TSubstitution - Missense
OR7C2ENSG00000127529ENST00000248072p.N84Nc.252T>CSubstitution - coding silent
PALB2ENSG00000083093ENST00000261584p.H553Yc.1657C>TSubstitution - Missense
TNRC6AENSG00000090905ENST00000395799p.G803Vc.2408G>TSubstitution - Missense
SLC5A11ENSG00000158865ENST00000347898p.P69Lc.206C>TSubstitution - Missense
EEF2KENSG00000103319ENST00000263026p.S72Sc.216C>TSubstitution - coding silent
EEF2KENSG00000103319ENST00000263026p.S72Sc.216C>TSubstitution - coding silent
CDR2ENSG00000140743ENST00000268383p.Y243Cc.728A>GSubstitution - Missense
MLST8ENSG00000167965ENST00000564088p.R117Qc.350G>ASubstitution - Missense
SCNN1BENSG00000168447ENST00000343070p.S520Sc.1560G>CSubstitution - coding silent
NEK1ENSG00000137601ENST00000507142p.E667*c.1999G>TSubstitution - Nonsense
NEK1ENSG00000137601ENST00000507142p.E667*c.1999G>TSubstitution - Nonsense
ATP13A5ENSG00000187527ENST00000342358p.?c.2775+2T>CUnknown
FSTL5ENSG00000168843ENST00000306100p.Y307Hc.919T>CSubstitution - Missense
FETUBENSG00000090512ENST00000265029p.T172Tc.516C>TSubstitution - coding silent
ADIPOQENSG00000181092ENST00000320741p.A35Dc.104C>ASubstitution - Missense
TP63ENSG00000073282ENST00000418709p.T193Tc.579G>ASubstitution - coding silent
HTR3EENSG00000186038ENST00000335304p.T217Tc.651A>GSubstitution - coding silent
EIF2B5ENSG00000145191ENST00000273783p.R145Lc.434G>TSubstitution - Missense
EHHADHENSG00000113790ENST00000231887p.G355Sc.1063G>ASubstitution - Missense
C9orf78ENSG00000136819ENST00000372447p.A51Vc.152C>TSubstitution - Missense
ABL1ENSG00000097007ENST00000372348p.V441Vc.1323C>ASubstitution - coding silent
NUP214ENSG00000126883ENST00000359428p.P1986Lc.5957C>TSubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.L1479Fc.4435C>TSubstitution - Missense
GLE1ENSG00000119392ENST00000372770p.I126fs*16c.371delGDeletion - Frameshift
PHYHD1ENSG00000175287ENST00000308941p.P173Sc.517C>TSubstitution - Missense
PHYHD1ENSG00000175287ENST00000372592p.A180Vc.539C>TSubstitution - Missense
CRATENSG00000095321ENST00000318080p.H31Rc.92A>GSubstitution - Missense
SH2D3CENSG00000095370ENST00000314830p.T655Tc.1965C>TSubstitution - coding silent
SH2D3CENSG00000095370ENST00000314830p.T655Tc.1965C>TSubstitution - coding silent
ST6GALNAC6ENSG00000160408ENST00000373146p.V161Vc.483G>ASubstitution - coding silent
ST6GALNAC6ENSG00000160408ENST00000373146p.?c.297+6G>AUnknown
ST6GALNAC4ENSG00000136840ENST00000335791p.T200Mc.599C>TSubstitution - Missense
SLC25A25ENSG00000148339ENST00000432073p.A52Tc.154G>ASubstitution - Missense
C9orf16ENSG00000171159ENST00000372994p.R55Hc.164G>ASubstitution - Missense
DNM1ENSG00000106976ENST00000341179p.?c.236-4G>AUnknown
CERCAMENSG00000167123ENST00000372838p.A249Ac.747C>ASubstitution - coding silent
CERCAMENSG00000167123ENST00000372842p.A171Ac.513C>ASubstitution - coding silent
OLFML2AENSG00000185585ENST00000373580p.G230Dc.689G>ASubstitution - Missense
RABEPKENSG00000136933ENST00000416065p.G116Gc.348C>TSubstitution - coding silent
ZBTB34ENSG00000177125ENST00000373452p.R193Cc.577C>TSubstitution - Missense
ANGPTL2ENSG00000136859ENST00000373425p.T268Tc.804C>TSubstitution - coding silent
MEGF9ENSG00000106780ENST00000426959p.R253Cc.757C>TSubstitution - Missense
OR1L8ENSG00000171496ENST00000304865p.M82Tc.245T>CSubstitution - Missense
RABGAP1ENSG00000011454ENST00000373647p.R904Wc.2710C>TSubstitution - Missense
NM_005607p.P230fs*13c.687delTDeletion - Frameshift
ENST00000395214p.P118fs*13c.351delTDeletion - Frameshift
SLC45A4ENSG00000022567ENST00000024061p.K746fs*13c.2238delADeletion - Frameshift
PHF20L1ENSG00000129292ENST00000395386p.W60*c.180G>ASubstitution - Nonsense
PHF20L1ENSG00000129292ENST00000337920p.W60*c.180G>ASubstitution - Nonsense
TRAPPC9ENSG00000167632ENST00000389328p.V982Vc.2946C>TSubstitution - coding silent
NM_138995p.L1235Fc.3705G>CSubstitution - Missense
KIAA1456ENSG00000250305ENST00000524591p.E18Kc.52G>ASubstitution - Missense
KIAA1456ENSG00000250305ENST00000447063p.E18Kc.52G>ASubstitution - Missense
ADCY8ENSG00000155897ENST00000286355p.K1050fs*21c.3150delADeletion - Frameshift
PPIGENSG00000138398ENST00000260970p.S717Lc.2150C>TSubstitution - Missense
KLHL23ENSG00000213160ENST00000392647p.N214fs*10c.638delADeletion - Frameshift
METTL5ENSG00000138382ENST00000392640p.T122Ac.364A>GSubstitution - Missense
MYO3BENSG00000071909ENST00000408978p.A1091Vc.3272C>TSubstitution - Missense
NM_138995p.A1091Vc.3272C>TSubstitution - Missense
XIRP2ENSG00000163092ENST00000295237p.V2782Vc.8346A>GSubstitution - coding silent
SLC4A10ENSG00000144290ENST00000375514p.T116Tc.348C>TSubstitution - coding silent
PXDNENSG00000130508ENST00000252804p.A758Tc.2272G>ASubstitution - Missense
VPREB3ENSG00000128218ENST00000248948p.T41Mc.122C>TSubstitution - Missense
SMARCB1ENSG00000099956ENST00000344921p.?c.336-6C>TUnknown
SUSD2ENSG00000099994ENST00000358321p.S278Sc.834C>TSubstitution - coding silent
ENST00000426507p.P183Hc.548C>ASubstitution - Missense
PI4KAENSG00000241973ENST00000572273p.D887Nc.2659G>ASubstitution - Missense
SERPIND1ENSG00000099937ENST00000215727p.R376Wc.1126C>TSubstitution - Missense
TOP3BENSG00000100038ENST00000357179p.A576Ac.1728C>TSubstitution - coding silent
HDAC9ENSG00000048052ENST00000441542p.R260*c.778C>TSubstitution - Nonsense
AGMOENSG00000187546ENST00000342526p.R396Cc.1186C>TSubstitution - Missense
DPP6ENSG00000130226ENST00000404039p.?c.2054-5T>CUnknown
NM_002847.2p.R219Wc.655C>TSubstitution - Missense
ARMC4ENSG00000169126ENST00000545014p.?c.1070+2T>CUnknown
CREMENSG00000095794ENST00000487763p.V42Vc.126G>TSubstitution - coding silent
CREMENSG00000095794ENST00000395895p.V282Vc.846G>TSubstitution - coding silent
ENST00000595843p.K51Kc.153A>GSubstitution - coding silent
TCF7L2ENSG00000148737ENST00000352065p.A374Vc.1121C>TSubstitution - Missense
ADARB2ENSG00000185736ENST00000381310p.R174Wc.520C>TSubstitution - Missense
PLEKHA1ENSG00000107679ENST00000538022p.S249Sc.747C>TSubstitution - coding silent
C10orf90ENSG00000154493ENST00000544758p.V353Ac.1058T>CSubstitution - Missense
ENST00000368674p.V209Ac.626T>CSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.R1758Wc.5272C>TSubstitution - Missense
COG6ENSG00000133103ENST00000416691p.H456Rc.1367A>GSubstitution - Missense
LILRA5ENSG00000187116ENST00000432233p.R165Wc.493C>TSubstitution - Missense
TTYH1ENSG00000167614ENST00000391739p.R122Qc.365G>ASubstitution - Missense
PLECENSG00000178209ENST00000354589p.A4422Tc.13264G>ASubstitution - Missense
PLECENSG00000178209ENST00000356346p.A4408Tc.13222G>ASubstitution - Missense
USH2AENSG00000042781ENST00000366943p.T2819Tc.8457C>TSubstitution - coding silent
TP63ENSG00000073282ENST00000354600p.T99Tc.297G>ASubstitution - coding silent
USP49ENSG00000164663ENST00000394253p.T313Tc.939G>ASubstitution - coding silent
EOMESENSG00000163508ENST00000449599p.G332fs*4c.995delGDeletion - Frameshift
RYR2ENSG00000198626ENST00000360064p.M1298Vc.3892A>GSubstitution - Missense
MRPL14ENSG00000180992ENST00000372014p.I58Vc.172A>GSubstitution - Missense
SUPT3HENSG00000196284ENST00000371460p.D168Dc.504C>TSubstitution - coding silent
SUPT3HENSG00000196284ENST00000371459p.D157Dc.471C>TSubstitution - coding silent
TNFRSF21ENSG00000146072ENST00000296861p.A569Vc.1706C>TSubstitution - Missense
TNFRSF21ENSG00000146072ENST00000296861p.L362Fc.1084C>TSubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.R774Rc.2322C>TSubstitution - coding silent
GRM4ENSG00000124493ENST00000374181p.I802Ic.2406C>TSubstitution - coding silent
GRM4ENSG00000124493ENST00000374177p.I686Ic.2058C>TSubstitution - coding silent
GRM4ENSG00000124493ENST00000374181p.M643Tc.1928T>CSubstitution - Missense
GRM4ENSG00000124493ENST00000374177p.M527Tc.1580T>CSubstitution - Missense
CUL9ENSG00000112659ENST00000252050p.R2148Cc.6442C>TSubstitution - Missense
BRD2ENSG00000204256ENST00000395289p.A17Vc.50C>TSubstitution - Missense
VPS52ENSG00000223501ENST00000445902p.V176Vc.528G>TSubstitution - coding silent
SYNGAP1ENSG00000197283ENST00000293748p.S1007Sc.3021T>CSubstitution - coding silent
ITPR3ENSG00000096433ENST00000374316p.R774Rc.2322C>TSubstitution - coding silent
PRRT1ENSG00000204314ENST00000211413p.P183Lc.548C>TSubstitution - Missense
PPT2ENSG00000221988ENST00000361568p.H190Hc.570C>TSubstitution - coding silent
AGERENSG00000204305ENST00000375076p.V255Ic.763G>ASubstitution - Missense
NOTCH4ENSG00000204301ENST00000375023p.G330Dc.989G>ASubstitution - Missense
RNF180ENSG00000164197ENST00000296615p.T304Tc.912A>GSubstitution - coding silent
CLIC1ENSG00000213719ENST00000375780p.P200Pc.600C>TSubstitution - coding silent
MSH5ENSG00000204410ENST00000375703p.G597Rc.1789G>ASubstitution - Missense
HSPA1LENSG00000204390ENST00000375654p.A144Vc.431C>TSubstitution - Missense
HSPA1LENSG00000204390ENST00000375654p.D71fs*1c.205_206insTInsertion - Frameshift
SLC44A4ENSG00000204385ENST00000229729p.Y66Cc.197A>GSubstitution - Missense
CFBENSG00000243649ENST00000425368p.?c.1037-1G>TUnknown
IL31RAENSG00000164509ENST00000447346p.N125Dc.373A>GSubstitution - Missense
IL31RAENSG00000164509ENST00000396836p.N125Dc.373A>GSubstitution - Missense
DEPDC1BENSG00000035499ENST00000265036p.R362Cc.1084C>TSubstitution - Missense
NM_139056.1p.V840Mc.2518G>ASubstitution - Missense
FSTENSG00000134363ENST00000256759p.N82Nc.246C>TSubstitution - coding silent
SNX18ENSG00000178996ENST00000326277p.G240Rc.718G>ASubstitution - Missense
SNX18ENSG00000178996ENST00000381410p.G240Rc.718G>ASubstitution - Missense
FBXW11ENSG00000072803ENST00000296933p.R481Hc.1442G>ASubstitution - Missense
HRH2ENSG00000113749ENST00000377291p.C118Cc.354C>TSubstitution - coding silent
FAF2ENSG00000113194ENST00000261942p.?c.1156-8C>AUnknown
FGFR3ENSG00000068078ENST00000440486p.T316Tc.948C>ASubstitution - coding silent
TENM3ENSG00000218336ENST00000511685p.L47Wc.140T>GSubstitution - Missense
TENM3ENSG00000218336ENST00000511685p.A2570Vc.7709C>TSubstitution - Missense
LETM1ENSG00000168924ENST00000302787p.A204Tc.610G>ASubstitution - Missense
CDKN2AIPENSG00000168564ENST00000504169p.T379Ic.1136C>TSubstitution - Missense
TENM2ENSG00000145934ENST00000518659p.G2230Ac.6689G>CSubstitution - Missense
TENM2ENSG00000145934ENST00000519204p.G2109Ac.6326G>CSubstitution - Missense
ENST00000388903p.G2063Ac.6188G>CSubstitution - Missense
WDR90ENSG00000161996ENST00000315764p.T134Tc.402C>TSubstitution - coding silent
CCDC144AENSG00000170160ENST00000456009p.R903*c.2707C>TSubstitution - Nonsense
BAIAP3ENSG00000007516ENST00000397488p.S642Pc.1924T>CSubstitution - Missense
ABCC1ENSG00000103222ENST00000399408p.V1336Mc.4006G>ASubstitution - Missense
MYO9AENSG00000066933ENST00000424560p.R1890Wc.5668C>TSubstitution - Missense
RHBDF1ENSG00000007384ENST00000454039p.V422Mc.1264G>ASubstitution - Missense
RHBDF1ENSG00000007384ENST00000454039p.?c.673-8G>AUnknown
MTHFD1ENSG00000100714ENST00000216605p.P371Pc.1113T>CSubstitution - coding silent
TTC7BENSG00000165914ENST00000357056p.Q543*c.1627C>TSubstitution - Nonsense
DUOX1ENSG00000137857ENST00000561166p.M742Tc.2225T>CSubstitution - Missense
PSME1ENSG00000092010ENST00000382708p.Y209Cc.626A>GSubstitution - Missense
NINENSG00000100503ENST00000453196p.F1304Sc.3911T>CSubstitution - Missense
RTN1ENSG00000139970ENST00000342503p.G153Gc.459C>TSubstitution - coding silent
KIAA1107ENSG00000069712ENST00000409154p.R591Cc.1771C>TSubstitution - Missense
DNAJC11ENSG00000007923ENST00000451196p.T242Ic.725C>TSubstitution - Missense
MIER1ENSG00000198160ENST00000371014p.R37Qc.110G>ASubstitution - Missense
ZNF496ENSG00000162714ENST00000366498p.A54Vc.161C>TSubstitution - Missense
NIPAL3ENSG00000001461ENST00000339255p.A92Tc.274G>ASubstitution - Missense
AIDAENSG00000186063ENST00000541237p.P244Hc.731C>ASubstitution - Missense
ITPKBENSG00000143772ENST00000366784p.I154Ic.462C>ASubstitution - coding silent
SELLENSG00000188404ENST00000236147p.P60Lc.179C>TSubstitution - Missense
TDRD5ENSG00000162782ENST00000444136p.P68Pc.204C>TSubstitution - coding silent
CRB1ENSG00000134376ENST00000535699p.P4Tc.10C>ASubstitution - Missense
LMNAENSG00000160789ENST00000392353p.S214Sc.642G>ASubstitution - coding silent
C1orf54ENSG00000118292ENST00000369098p.V11Vc.33G>ASubstitution - coding silent
ZNF687ENSG00000143373ENST00000368879p.V571Vc.1713C>ASubstitution - coding silent
ENST00000540389p.G195Gc.585A>TSubstitution - coding silent
EXOSC10ENSG00000171824ENST00000544779p.G164Dc.491G>ASubstitution - Missense
ST7LENSG00000007341ENST00000343210p.T193Ac.577A>GSubstitution - Missense
PTCHD2ENSG00000204624ENST00000389575p.P98Rc.293C>GSubstitution - Missense
MYO16ENSG00000041515ENST00000251041p.I732Ic.2196T>CSubstitution - coding silent
MYO16ENSG00000041515ENST00000457511p.I244Ic.732T>CSubstitution - coding silent
FLT1ENSG00000102755ENST00000543394p.R280Hc.839G>ASubstitution - Missense
PMELENSG00000185664ENST00000449260p.G263Ec.788G>ASubstitution - Missense
SMARCC2ENSG00000139613ENST00000394023p.R119Hc.356G>ASubstitution - Missense
MON2ENSG00000061987ENST00000280379p.A1108Tc.3322G>ASubstitution - Missense
EP400ENSG00000183495ENST00000333577p.T1726Mc.5177C>TSubstitution - Missense
EP400ENSG00000183495ENST00000333577p.T2699Mc.8096C>TSubstitution - Missense
DENND5BENSG00000170456ENST00000306833p.?c.1966+10C>TUnknown
C11orf54ENSG00000182919ENST00000331239p.?c.228+7A>GUnknown
ANKS1BENSG00000185046ENST00000329257p.R260Rc.780A>GSubstitution - coding silent
BTBD11ENSG00000151136ENST00000357167p.N597Kc.1791C>GSubstitution - Missense
CLIP1ENSG00000130779ENST00000540338p.T1050Mc.3149C>TSubstitution - Missense
MPHOSPH9ENSG00000051825ENST00000302349p.E821Ec.2463G>ASubstitution - coding silent
CLP1ENSG00000172409ENST00000533682p.V254Ic.760G>ASubstitution - Missense
ZDHHC5ENSG00000156599ENST00000287169p.R560Hc.1679G>ASubstitution - Missense
STX5ENSG00000162236ENST00000377897p.A218Vc.653C>TSubstitution - Missense
ATL3ENSG00000184743ENST00000332645p.?c.1188+9G>AUnknown
ENST00000317568_v70p.S51Sc.153G>ASubstitution - coding silent
ENST00000457912_v65p.D78Dc.234C>TSubstitution - coding silent
SMTNL1ENSG00000214872ENST00000457912p.R454Rc.1360C>ASubstitution - coding silent
OR5I1ENSG00000167825ENST00000301532p.L307Lc.921A>GSubstitution - coding silent
PDHXENSG00000110435ENST00000448838p.R242Lc.725G>TSubstitution - Missense
NUP98ENSG00000110713ENST00000397007p.A210Vc.629C>TSubstitution - Missense
TRIM21ENSG00000132109ENST00000543625p.E12Dc.36G>TSubstitution - Missense
OR51A7ENSG00000176895ENST00000359350p.I213Nc.638T>ASubstitution - Missense
OR4C12ENSG00000221954ENST00000335238p.L37Fc.109C>TSubstitution - Missense
PGRENSG00000082175ENST00000325455p.E327Gc.980A>GSubstitution - Missense
ARHGAP20ENSG00000137727ENST00000533353p.S970Sc.2910C>TSubstitution - coding silent
SIDT2ENSG00000149577ENST00000278951p.D556Dc.1668C>TSubstitution - coding silent
LDB3ENSG00000122367ENST00000458213p.G54Gc.162C>TSubstitution - coding silent
ENST00000368529p.R188Wc.562C>TSubstitution - Missense
ARMC3ENSG00000165309ENST00000409049p.A467Vc.1400C>TSubstitution - Missense
ARHGAP21ENSG00000107863ENST00000376410p.V623Ic.1867G>ASubstitution - Missense
ZNF33AENSG00000189180ENST00000432900p.E416fs*7c.1246_1247insGInsertion - Frameshift
RUFY2ENSG00000204130ENST00000399200p.N345fs*3c.1034delADeletion - Frameshift
SMARCC2ENSG00000139613ENST00000394023p.G1075fs*18c.3213_3214insCCInsertion - Frameshift
KIAA1109ENSG00000138688ENST00000455637p.L1130Lc.3390C>TSubstitution - coding silent
CCR3ENSG00000183625ENST00000545097p.R217Rc.651G>ASubstitution - coding silent
NT5DC2ENSG00000168268ENST00000422318p.R501Cc.1501C>TSubstitution - Missense
NT5DC2ENSG00000168268ENST00000422318p.D255Dc.765C>TSubstitution - coding silent
POPDC2ENSG00000121577ENST00000468801p.T114Tc.342G>ASubstitution - coding silent
COLQENSG00000206561ENST00000435459p.K228Rc.683A>GSubstitution - Missense
COLQENSG00000206561ENST00000383785p.K238Rc.713A>GSubstitution - Missense
CEP68ENSG00000011523ENST00000537589p.E27Qc.79G>CSubstitution - Missense
GFPT1ENSG00000198380ENST00000357308p.G664Gc.1992C>ASubstitution - coding silent
SCLYENSG00000132330ENST00000409736p.A234Vc.701C>TSubstitution - Missense
RBKSENSG00000171174ENST00000444339p.?c.90-4A>GUnknown
MYT1LENSG00000186487ENST00000428368p.C957Cc.2871C>TSubstitution - coding silent
MYT1LENSG00000186487ENST00000428368p.R218Qc.653G>ASubstitution - Missense
ENSG00000182329ENST00000541917p.R9Qc.26G>ASubstitution - Missense
ABCA12ENSG00000144452ENST00000389661p.T1482Mc.4445C>TSubstitution - Missense
DOCK10ENSG00000135905ENST00000409592p.T1999Mc.5996C>TSubstitution - Missense
ENST00000339254p.R483Qc.1448G>ASubstitution - Missense
NR4A2ENSG00000153234ENST00000539077p.K341Ec.1021A>GSubstitution - Missense
UBR3ENSG00000144357ENST00000392631p.H625Qc.1875C>GSubstitution - Missense
OSBPL6ENSG00000079156ENST00000315022p.I787Kc.2360T>ASubstitution - Missense
CLASP1ENSG00000074054ENST00000541859p.A997Tc.2989G>ASubstitution - Missense
CLASP1ENSG00000074054ENST00000545861p.A987Tc.2959G>ASubstitution - Missense
TMPRSS6ENSG00000187045ENST00000381792p.L745Mc.2233C>ASubstitution - Missense
PPP6R2ENSG00000100239ENST00000216061p.A241Ac.723G>ASubstitution - coding silent
SONENSG00000159140ENST00000290239p.K1888Kc.5664A>GSubstitution - coding silent
ERGENSG00000157554ENST00000288319p.S48Sc.144C>TSubstitution - coding silent
CLTCL1ENSG00000070371ENST00000427926p.T397Tc.1191G>ASubstitution - coding silent
CLTCL1ENSG00000070371ENST00000427926p.A126Vc.377C>TSubstitution - Missense
KCNQ2ENSG00000075043ENST00000359689p.P335Pc.1005G>ASubstitution - coding silent
USP16ENSG00000156256ENST00000535828p.?c.243+10T>CUnknown
PYGBENSG00000100994ENST00000428458p.D53Ec.159C>ASubstitution - Missense
VPS16ENSG00000215305ENST00000380443p.M107Ic.321G>ASubstitution - Missense
LILRA2ENSG00000239998ENST00000251377p.?c.35-4C>AUnknown
LILRA2ENSG00000239998ENST00000251377p.P442Hc.1325C>ASubstitution - Missense
LILRA2ENSG00000239998ENST00000251377p.Y445Cc.1334A>GSubstitution - Missense
ZBTB45ENSG00000119574ENST00000594051p.A158Dc.473C>ASubstitution - Missense
ENST00000263281_v70p.L262Hc.785T>ASubstitution - Missense
STRN4ENSG00000090372ENST00000391910p.A452Vc.1355C>TSubstitution - Missense
PTPRSENSG00000105426ENST00000372412p.G819Gc.2457C>TSubstitution - coding silent
AP3D1ENSG00000065000ENST00000355272p.R182Rc.546C>TSubstitution - coding silent
DLL3ENSG00000090932ENST00000356433p.T549Tc.1647G>ASubstitution - coding silent
RGL3ENSG00000205517ENST00000393423p.P478Pc.1434G>ASubstitution - coding silent
IL12RB1ENSG00000096996ENST00000593993p.R54Lc.161G>TSubstitution - Missense
GATAD2AENSG00000167491ENST00000404158p.A346Ac.1038G>ASubstitution - coding silent
EPB41L3ENSG00000082397ENST00000544123p.I477Mc.1431C>GSubstitution - Missense
HMHA1ENSG00000180448ENST00000536472p.S370Sc.1110C>TSubstitution - coding silent
HMHA1ENSG00000180448ENST00000536472p.S382Sc.1146C>TSubstitution - coding silent
NPLOC4ENSG00000182446ENST00000374747p.S493Yc.1478C>ASubstitution - Missense
ARHGAP27ENSG00000159314ENST00000428638p.?c.1843-4C>TUnknown
GOSR2ENSG00000108433ENST00000393456p.R47Cc.139C>TSubstitution - Missense
SDK2ENSG00000069188ENST00000392650p.V1270Mc.3808G>ASubstitution - Missense
CD300LFENSG00000186074ENST00000361254p.G27Sc.79G>ASubstitution - Missense
RECQL5ENSG00000108469ENST00000317905p.F659Fc.1977C>TSubstitution - coding silent
RECQL5ENSG00000108469ENST00000317905p.A657Vc.1970C>TSubstitution - Missense
RAI1ENSG00000108557ENST00000261641p.C594Yc.1781G>ASubstitution - Missense
RAI1ENSG00000108557ENST00000261641p.R960Qc.2879G>ASubstitution - Missense
KIAA0100ENSG00000007202ENST00000528896p.?c.4299+7C>AUnknown
ZNF207ENSG00000010244ENST00000394670p.F35Lc.105T>ASubstitution - Missense
ENST00000301659_v70p.E239Dc.717G>TSubstitution - Missense
MED24ENSG00000008838ENST00000394128p.L736Lc.2206C>TSubstitution - coding silent
SLC12A4ENSG00000124067ENST00000541864p.?c.1362-8C>AUnknown
PCLOENSG00000186472ENST00000423517p.A162Tc.484G>ASubstitution - Missense
BAALCENSG00000164929ENST00000297574p.V179Ic.535G>ASubstitution - Missense
PLECENSG00000178209ENST00000354589p.P3070Pc.9210C>TSubstitution - coding silent
PLECENSG00000178209ENST00000356346p.P3056Pc.9168C>TSubstitution - coding silent
AOC1ENSG00000002726ENST00000416793p.I509Mc.1527A>GSubstitution - Missense
KMT2EENSG00000005483ENST00000476671p.V28Ic.82G>ASubstitution - Missense
SRPK2ENSG00000135250ENST00000393651p.T671Ic.2012C>TSubstitution - Missense
LAMB4ENSG00000091128ENST00000388780p.G356Rc.1066G>ASubstitution - Missense
LAMB4ENSG00000091128ENST00000414450p.G356Rc.1066G>ASubstitution - Missense
CPED1ENSG00000106034ENST00000450913p.E131Gc.392A>GSubstitution - Missense
CLIC5ENSG00000112782ENST00000544153p.G30Cc.88G>TSubstitution - Missense
BAI3ENSG00000135298ENST00000238918p.A574Tc.1720G>ASubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.R726Gc.2176C>GSubstitution - Missense
TRERF1ENSG00000124496ENST00000541110p.I969Ic.2907C>TSubstitution - coding silent
EHMT2ENSG00000204371ENST00000395728p.R1192Cc.3574C>TSubstitution - Missense
EHMT2ENSG00000204371ENST00000395728p.R1189Qc.3566G>ASubstitution - Missense
PRRT1ENSG00000204314ENST00000375150p.P102Lc.305C>TSubstitution - Missense
AGERENSG00000204305ENST00000438221p.V271Ic.811G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.K1651Rc.4952A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.?c.4809+3A>GUnknown
OPRM1ENSG00000112038ENST00000419506p.I324Vc.970A>GSubstitution - Missense
OPRM1ENSG00000112038ENST00000414028p.I324Vc.970A>GSubstitution - Missense
SCAF8ENSG00000213079ENST00000367186p.C580Yc.1739G>ASubstitution - Missense
RAI14ENSG00000039560ENST00000397449p.S81Sc.243C>TSubstitution - coding silent
IL31RAENSG00000164509ENST00000359040p.N125Dc.373A>GSubstitution - Missense
MAST4ENSG00000069020ENST00000261569p.?c.181+3A>GUnknown
MAST4ENSG00000069020ENST00000403666p.W578Lc.1733G>TSubstitution - Missense
MAST4ENSG00000069020ENST00000261569p.W573Lc.1718G>TSubstitution - Missense
DMGDHENSG00000132837ENST00000380311p.Y494Yc.1482T>CSubstitution - coding silent
ADAM19ENSG00000135074ENST00000394020p.?c.1915-3C>TUnknown
ADAM19ENSG00000135074ENST00000430702p.?c.1108-3C>TUnknown
TENM2ENSG00000145934ENST00000545108p.G1450Gc.4350A>GSubstitution - coding silent
TENM2ENSG00000145934ENST00000545108p.G2229Ac.6686G>CSubstitution - Missense
GRK6ENSG00000198055ENST00000528793p.A566Vc.1697C>TSubstitution - Missense
CANXENSG00000127022ENST00000415618p.G225Dc.674G>ASubstitution - Missense
BTNL9ENSG00000165810ENST00000376841p.M24Ic.72G>ASubstitution - Missense
SLC25A48ENSG00000145832ENST00000420621p.S81Sc.243T>CSubstitution - coding silent
PCDHA5ENSG00000204965ENST00000529619p.G573Sc.1717G>ASubstitution - Missense
PPARGC1BENSG00000155846ENST00000394320p.A962Tc.2884G>ASubstitution - Missense
STRADBENSG00000082146ENST00000392249p.?c.721-9G>AUnknown
MLST8ENSG00000167965ENST00000301725p.R136Qc.407G>ASubstitution - Missense
CTU2ENSG00000174177ENST00000567949p.?c.1566-4G>AUnknown
TRPV3ENSG00000167723ENST00000301365p.R462Hc.1385G>ASubstitution - Missense
NUB1ENSG00000013374ENST00000568733p.D120fs*17c.351delADeletion - Frameshift
NUB1ENSG00000013374ENST00000568733p.K330fs*2c.983delADeletion - Frameshift
SVEP1ENSG00000165124ENST00000302728p.F638fs*13c.1913delTDeletion - Frameshift
KIAA0368ENSG00000136813ENST00000338205p.K1550fs*6c.4650delADeletion - Frameshift
MBTPS2ENSG00000012174ENST00000365779p.Q305fs*6c.910delCDeletion - Frameshift
ENST00000378024_v70p.V4170Vc.12510G>TSubstitution - coding silent
HERC5ENSG00000138646ENST00000264350p.I140fs*1c.410delADeletion - Frameshift
FIG4ENSG00000112367ENST00000454215p.S219fs*>19c.652delADeletion - Frameshift
JARID2ENSG00000008083ENST00000541660p.R387fs*36c.1152delGDeletion - Frameshift
QKIENSG00000112531ENST00000392127p.K134fs*14c.394delADeletion - Frameshift
ZNF407ENSG00000215421ENST00000577538p.K292fs*20c.871delADeletion - Frameshift
UPF1ENSG00000005007ENST00000599848p.G49fs*45c.139delCDeletion - Frameshift
EML2ENSG00000125746ENST00000536630p.G460fs*81c.1379delGDeletion - Frameshift
PTPRSENSG00000105426ENST00000372412p.G977fs*25c.2930delGDeletion - Frameshift
ENST00000335056_v70p.F250fs*59c.748delTDeletion - Frameshift
COL20A1ENSG00000101203ENST00000422202p.L349fs*44c.1044delCDeletion - Frameshift
PLOD1ENSG00000083444ENST00000376369p.V171fs*103c.510delGDeletion - Frameshift
ENST00000358133_v70p.V124fs*71c.369delGDeletion - Frameshift
ENST00000367531p.K618fs*25c.1847delADeletion - Frameshift
RAP1GAPENSG00000076864ENST00000542643p.L349fs*18c.1045delCDeletion - Frameshift
AFAP1L2ENSG00000169129ENST00000545353p.C36fs*1c.106_107insAGCTInsertion - Frameshift
PCF11ENSG00000165494ENST00000298281p.R397Hc.1190G>ASubstitution - Missense
KLHL12ENSG00000117153ENST00000367261p.L79fs*1c.236delTDeletion - Frameshift
DENND5BENSG00000170456ENST00000389082p.?c.1861+10C>TUnknown
NRIP2ENSG00000053702ENST00000337508p.Q231Qc.693G>ASubstitution - coding silent
ACTN1ENSG00000072110ENST00000193403p.T207Mc.620C>TSubstitution - Missense
HTR6ENSG00000158748ENST00000289753p.T60Tc.180G>ASubstitution - coding silent
EMC1ENSG00000127463ENST00000477853p.F581Fc.1743C>TSubstitution - coding silent
TTLL10ENSG00000162571ENST00000379290p.G40Gc.120G>ASubstitution - coding silent
WDR3ENSG00000065183ENST00000349139p.I895Tc.2684T>CSubstitution - Missense
NM_014381.1p.K729Nc.2187A>TSubstitution - Missense
ANK3ENSG00000151150ENST00000280772p.?c.2738+3A>GUnknown
NADKENSG00000008130ENST00000341991p.A254Vc.761C>TSubstitution - Missense
KDM4AENSG00000066135ENST00000372396p.G850Gc.2550C>TSubstitution - coding silent
PABPC3ENSG00000151846ENST00000281589p.G141Gc.423A>TSubstitution - coding silent
SPG20ENSG00000133104ENST00000355182p.V408Vc.1224T>CSubstitution - coding silent
GJB4ENSG00000189433ENST00000339480p.C60Gc.178T>GSubstitution - Missense
AGO1ENSG00000092847ENST00000373204p.L17Lc.51G>ASubstitution - coding silent
WRAP73ENSG00000116213ENST00000270708p.S304Ac.910T>GSubstitution - Missense
IGHMBP2ENSG00000132740ENST00000255078p.R270Cc.808C>TSubstitution - Missense
ZFHX2ENSG00000136367ENST00000419474p.L1323Mc.3967C>ASubstitution - Missense
IRF9ENSG00000213928ENST00000396864p.Q304Hc.912G>TSubstitution - Missense
CKBENSG00000166165ENST00000348956p.M377Tc.1130T>CSubstitution - Missense
NXF1ENSG00000162231ENST00000294172p.M138Ic.414G>ASubstitution - Missense
MTA2ENSG00000149480ENST00000278823p.D328Nc.982G>ASubstitution - Missense
ENST00000368148p.G650Sc.1948G>ASubstitution - Missense
ENST00000328974p.N184Nc.552C>TSubstitution - coding silent
MSANTD2ENSG00000120458ENST00000239614p.E185*c.553G>TSubstitution - Nonsense
AMBRA1ENSG00000110497ENST00000458649p.S1063Sc.3189C>TSubstitution - coding silent
TMEM194AENSG00000166881ENST00000300128p.?c.128-4A>TUnknown
KIF1BENSG00000054523ENST00000263934p.R1171Cc.3511C>TSubstitution - Missense
CUL2ENSG00000108094ENST00000374751p.?c.506+2T>CUnknown
USH2AENSG00000042781ENST00000307340p.T4979Ac.14935A>GSubstitution - Missense
MAP3K12ENSG00000139625ENST00000547035p.T544Tc.1632G>ASubstitution - coding silent
DICER1ENSG00000100697ENST00000343455p.I585Ic.1755C>ASubstitution - coding silent
RNASEH2BENSG00000136104ENST00000336617p.N120Nc.360C>TSubstitution - coding silent
ANKRD30AENSG00000148513ENST00000602533p.V33Vc.99A>GSubstitution - coding silent
DNAAF2ENSG00000165506ENST00000298292p.S450Ic.1349G>TSubstitution - Missense
FBXO46ENSG00000177051ENST00000317683p.S126Sc.378C>TSubstitution - coding silent
APOBENSG00000084674ENST00000233242p.M1189fs*1c.3565delADeletion - Frameshift
TNKSENSG00000173273ENST00000310430p.T508fs*33c.1516delADeletion - Frameshift
NCKAP1LENSG00000123338ENST00000293373p.T71Tc.213G>ASubstitution - coding silent
HIST1H2BAENSG00000146047ENST00000274764p.P2Lc.5C>TSubstitution - Missense
BBS7ENSG00000138686ENST00000264499p.R228Hc.683G>ASubstitution - Missense
SCYL2ENSG00000136021ENST00000360820p.R301Cc.901C>TSubstitution - Missense
KAT2BENSG00000114166ENST00000263754p.R490Hc.1469G>ASubstitution - Missense
PDIA5ENSG00000065485ENST00000316218p.R492Hc.1475G>ASubstitution - Missense
NM_006622p.L335fs*68c.1004delTDeletion - Frameshift
ABCD1ENSG00000101986ENST00000370129p.S77Sc.231G>ASubstitution - coding silent
CNKSR2ENSG00000149970ENST00000279451p.S685Sc.2055T>CSubstitution - coding silent
FAM120CENSG00000184083ENST00000477084p.R231Wc.691C>TSubstitution - Missense
ENST00000381532_v70p.R350Hc.1049G>ASubstitution - Missense
WNK2ENSG00000165238ENST00000395477p.A2175Tc.6523G>ASubstitution - Missense
WNK2ENSG00000165238ENST00000427277p.A1787Tc.5359G>ASubstitution - Missense
BNC2ENSG00000173068ENST00000418777p.N681Nc.2043C>TSubstitution - coding silent
BNC2ENSG00000173068ENST00000411752p.N117Nc.351C>TSubstitution - coding silent
SHBENSG00000107338ENST00000377700p.G267Dc.800G>ASubstitution - Missense
CAMSAP1ENSG00000130559ENST00000409386p.T676Tc.2028C>TSubstitution - coding silent
OLFML2AENSG00000185585ENST00000288815p.G16Dc.47G>ASubstitution - Missense
DNM1ENSG00000106976ENST00000486160p.?c.236-4G>AUnknown
ZFHX4ENSG00000091656ENST00000050961p.N650Dc.1948A>GSubstitution - Missense
SVEP1ENSG00000165124ENST00000302728p.V562Mc.1684G>ASubstitution - Missense
FUT10ENSG00000172728ENST00000335589p.V239Ac.716T>CSubstitution - Missense
CSMD1ENSG00000183117ENST00000539096p.A435Ac.1305A>GSubstitution - coding silent
MCMDC2ENSG00000178460ENST00000313616p.V367Ac.1100T>CSubstitution - Missense
DMDENSG00000198947ENST00000357033p.P2962Lc.8885C>TSubstitution - Missense
SCAF8ENSG00000213079ENST00000367178p.C514Yc.1541G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.K1644Rc.4931A>GSubstitution - Missense
TFE3ENSG00000068323ENST00000315869p.G482fs*44c.1445delGDeletion - Frameshift
FOSL2ENSG00000075426ENST00000264716p.V267Ac.800T>CSubstitution - Missense
ZNF157ENSG00000147117ENST00000377073p.V369Vc.1107G>ASubstitution - coding silent
WDFY3ENSG00000163625ENST00000295888p.L1988Pc.5963T>CSubstitution - Missense
FANCAENSG00000187741ENST00000389301p.?c.709+2T>CUnknown
ZNF816ENSG00000180257ENST00000357666p.N316Dc.946A>GSubstitution - Missense
KCNQ2ENSG00000075043ENST00000354587p.P335Pc.1005G>ASubstitution - coding silent
SEC14L6ENSG00000214491ENST00000402034p.N223Sc.668A>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.C10666Yc.31997G>ASubstitution - Missense
TSGA10ENSG00000135951ENST00000355053p.A436Gc.1307C>GSubstitution - Missense
ALS2ENSG00000003393ENST00000264276p.R1329Qc.3986G>ASubstitution - Missense
EPHB6ENSG00000106123ENST00000392957p.R300Cc.898C>TSubstitution - Missense
XM_374491.1p.N1055Dc.3163A>GSubstitution - Missense
PHLPP1ENSG00000081913ENST00000262719p.T622Ac.1864A>GSubstitution - Missense
C20orf112ENSG00000197183ENST00000359676p.G73Gc.219C>TSubstitution - coding silent
TPX2ENSG00000088325ENST00000300403p.Q116Qc.348G>ASubstitution - coding silent
PYGBENSG00000100994ENST00000216962p.N794Nc.2382C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.Y17481Cc.52442A>GSubstitution - Missense
GSDMAENSG00000167914ENST00000301659p.E239Dc.717G>TSubstitution - Missense
SYNJ1ENSG00000159082ENST00000433931p.K837fs*27c.2510delADeletion - Frameshift
USP16ENSG00000156256ENST00000399976p.?c.1356+10T>CUnknown
NT5DC2ENSG00000168268ENST00000307076p.F483_T484insFc.1445_1446insCTTInsertion - In frame
DLL1ENSG00000198719ENST00000366756p.T610Tc.1830G>ASubstitution - coding silent
SVOPLENSG00000157703ENST00000288513p.*341Rc.1021T>CNonstop extension
CPSF1ENSG00000071894ENST00000349769p.E935Ec.2805G>ASubstitution - coding silent
COL18A1ENSG00000182871ENST00000359759p.P694Pc.2082C>TSubstitution - coding silent
TRPM2ENSG00000142185ENST00000397928p.R1330Sc.3988C>ASubstitution - Missense
ASTLENSG00000188886ENST00000342380p.R177Wc.529C>TSubstitution - Missense
ABCC11ENSG00000121270ENST00000356608p.A647Ac.1941C>TSubstitution - coding silent
GLYR1ENSG00000140632ENST00000321919p.N542Sc.1625A>GSubstitution - Missense
ACEENSG00000159640ENST00000290866p.P1103fs*69c.3303delCDeletion - Frameshift
GPS1ENSG00000169727ENST00000355130p.L496Fc.1486C>TSubstitution - Missense
FASNENSG00000169710ENST00000306749p.R2048Rc.6144C>ASubstitution - coding silent
YIPF2ENSG00000130733ENST00000253031p.R193Cc.577C>TSubstitution - Missense
RNF213ENSG00000173821ENST00000336301p.Q26fs*50c.71delCDeletion - Frameshift
GUCY2DENSG00000132518ENST00000254854p.A946Tc.2836G>ASubstitution - Missense
COL6A2ENSG00000142173ENST00000357838p.R569Qc.1706G>ASubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.T1478Tc.4434G>ASubstitution - coding silent
CACNA1DENSG00000157388ENST00000350061p.M10fs*60c.22delADeletion - Frameshift
MAGI1ENSG00000151276ENST00000483466p.R957Cc.2869C>TSubstitution - Missense
DCAF4L2ENSG00000176566ENST00000319675p.Y197Fc.590A>TSubstitution - Missense
RNF148ENSG00000235631ENST00000434824p.V118Mc.352G>ASubstitution - Missense
NSMAFENSG00000035681ENST00000427130p.C859Yc.2576G>ASubstitution - Missense
PRSS57ENSG00000185198ENST00000329267p.A32fs*9c.94delGDeletion - Frameshift
MYO15AENSG00000091536ENST00000205890p.A351Ac.1053G>ASubstitution - coding silent
LGALS3BPENSG00000108679ENST00000262776p.G568Sc.1702G>ASubstitution - Missense
RRBP1ENSG00000125844ENST00000377813p.L1230Lc.3690C>TSubstitution - coding silent
RB1CC1ENSG00000023287ENST00000025008p.L1354Lc.4062G>ASubstitution - coding silent
SPSB1ENSG00000171621ENST00000328089p.A122Tc.364G>ASubstitution - Missense
ABCA4ENSG00000198691ENST00000370225p.?c.5019-6C>TUnknown
DNAJC11ENSG00000007923ENST00000426784p.T296Ic.887C>TSubstitution - Missense
ATG2BENSG00000066739ENST00000359933p.Q1463Hc.4389G>TSubstitution - Missense
BCL11BENSG00000127152ENST00000357195p.K838Kc.2514G>ASubstitution - coding silent
NM_006575p.?c.1075-1G>TUnknown
FAM96AENSG00000166797ENST00000300030p.?c.386-6T>GUnknown
SPTBENSG00000070182ENST00000542895p.R416Qc.1247G>ASubstitution - Missense
MTFMTENSG00000103707ENST00000220058p.I177Sc.530T>GSubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.Q318Qc.954G>ASubstitution - coding silent
PLCXD3ENSG00000182836ENST00000377801p.T282Tc.846G>ASubstitution - coding silent
CHD4ENSG00000111642ENST00000357008p.M623Ic.1869G>ASubstitution - Missense
NOTCH2NLENSG00000213240ENST00000362074p.K31Rc.92A>GSubstitution - Missense
PRR14LENSG00000183530ENST00000327423p.K1838fs*16c.5514delADeletion - Frameshift
NEK1ENSG00000137601ENST00000507142p.V881fs*8c.2640delADeletion - Frameshift
LRRFIP2ENSG00000093167ENST00000336686p.I487fs*4c.1459delADeletion - Frameshift
F8ENSG00000185010ENST00000360256p.E1292fs*16c.3870delADeletion - Frameshift
TBC1D25ENSG00000068354ENST00000376771p.R371Rc.1113C>TSubstitution - coding silent
GALNT11ENSG00000178234ENST00000320311p.R177Hc.530G>ASubstitution - Missense
TRIM46ENSG00000163462ENST00000334634p.R482Qc.1445G>ASubstitution - Missense
COQ9ENSG00000088682ENST00000262507p.R102Hc.305G>ASubstitution - Missense
PLXNB3ENSG00000198753ENST00000538282p.?c.460-6T>AUnknown
NR0B1ENSG00000169297ENST00000453287p.G44Ac.131G>CSubstitution - Missense
PTPRDENSG00000153707ENST00000397617p.D787Dc.2361C>TSubstitution - coding silent
SH2D3CENSG00000095370ENST00000373276p.T587Tc.1761C>TSubstitution - coding silent
CLASP1ENSG00000074054ENST00000455322p.A1236Tc.3706G>ASubstitution - Missense
NRG2ENSG00000158458ENST00000545385p.Q192Qc.576G>ASubstitution - coding silent
BTNL9ENSG00000165810ENST00000376842p.M24Ic.72G>ASubstitution - Missense
SETDB1ENSG00000143379ENST00000498193p.Q470fs*4c.1402_1403insCInsertion - Frameshift
DOCK7ENSG00000116641ENST00000404627p.G189fs*10c.566delGDeletion - Frameshift
MYO9AENSG00000066933ENST00000424560p.R1036Rc.3106A>CSubstitution - coding silent
DIP2CENSG00000151240ENST00000540204p.A271Tc.811G>ASubstitution - Missense
CDH23ENSG00000107736ENST00000299366p.R189Rc.567C>TSubstitution - coding silent
OR51J1ENSG00000184321ENST00000332043p.S31Sc.93C>TSubstitution - coding silent
ENST00000314689p.K138Ec.412A>GSubstitution - Missense
SMTNL1ENSG00000214872ENST00000457912p.D78Dc.234C>TSubstitution - coding silent
ADAMTS16ENSG00000145536ENST00000274181p.V840Mc.2518G>ASubstitution - Missense
MASP1ENSG00000127241ENST00000337774p.Q578fs*24c.1732delCDeletion - Frameshift
LRRC8AENSG00000136802ENST00000372599p.T524Mc.1571C>TSubstitution - Missense
LRRC8AENSG00000136802ENST00000372599p.*811Wc.2433A>GNonstop extension
FNBP1ENSG00000187239ENST00000446176p.A95Tc.283G>ASubstitution - Missense
UBR3ENSG00000144357ENST00000392632p.H657Qc.1971C>GSubstitution - Missense
ENST00000317826p.G121Dc.362G>ASubstitution - Missense
GPR116ENSG00000069122ENST00000265417p.A74Tc.220G>ASubstitution - Missense
SYNGAP1ENSG00000197283ENST00000418600p.S1007Sc.3021T>CSubstitution - coding silent
GTPBP2ENSG00000172432ENST00000307126p.?c.706-6G>TUnknown
EHMT2ENSG00000204371ENST00000375537p.R1135Cc.3403C>TSubstitution - Missense
FGFR3ENSG00000068078ENST00000440486p.V356Vc.1068G>ASubstitution - coding silent
DDX4ENSG00000152670ENST00000505374p.?c.69+7A>GUnknown
SLC4A10ENSG00000144290ENST00000446997p.T105Tc.315C>TSubstitution - coding silent
RBCK1ENSG00000125826ENST00000356286p.G357Gc.1071C>TSubstitution - coding silent
NR4A2ENSG00000153234ENST00000339562p.K330Ec.988A>GSubstitution - Missense
USHBP1ENSG00000130307ENST00000252597p.E29Dc.87G>TSubstitution - Missense
IL27RAENSG00000104998ENST00000263379p.P135Pc.405T>CSubstitution - coding silent
NWD1ENSG00000188039ENST00000339803p.R532Cc.1594C>TSubstitution - Missense
RGS22ENSG00000132554ENST00000360863p.L316fs*39c.947_948insTInsertion - Frameshift
KELENSG00000197993ENST00000355265p.H585Rc.1754A>GSubstitution - Missense
TENM2ENSG00000145934ENST00000519204p.G1330Gc.3990A>GSubstitution - coding silent
FIGNENSG00000182263ENST00000333129p.T5Tc.15C>TSubstitution - coding silent
CCDC116ENSG00000161180ENST00000292779p.S428Yc.1283C>ASubstitution - Missense
ZSCAN21ENSG00000166529ENST00000292450p.C337Cc.1011T>CSubstitution - coding silent
BAALCENSG00000164929ENST00000309982p.V144Ic.430G>ASubstitution - Missense
CD22ENSG00000012124ENST00000085219p.P788Lc.2363C>TSubstitution - Missense
MPOENSG00000005381ENST00000225275p.E56fs*8c.166delGDeletion - Frameshift
COL5A1ENSG00000130635ENST00000371817p.G994Ac.2981G>CSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.T2021Tc.6063G>ASubstitution - coding silent
ISYNA1ENSG00000105655ENST00000338128p.L436Lc.1306C>TSubstitution - coding silent
MAST4ENSG00000069020ENST00000403625p.W767Lc.2300G>TSubstitution - Missense
POLKENSG00000122008ENST00000241436p.F299Lc.895T>CSubstitution - Missense
CDH19ENSG00000071991ENST00000262150p.R36*c.106C>TSubstitution - Nonsense
PPAN-P2RY11ENSG00000243207ENST00000393796p.V552Vc.1656G>ASubstitution - coding silent
BAXENSG00000087088ENST00000293288p.P130Lc.389C>TSubstitution - Missense
MEIS1ENSG00000143995ENST00000407092p.K275fs*8c.820delADeletion - Frameshift
CALN1ENSG00000183166ENST00000395275p.F168fs*6c.504delTDeletion - Frameshift
MAN1B1ENSG00000177239ENST00000371589p.?c.620+10G>AUnknown
IL1F10ENSG00000136697ENST00000337569p.R66Cc.196C>TSubstitution - Missense
MECP2ENSG00000169057ENST00000303391p.A378Vc.1133C>TSubstitution - Missense
SPO11ENSG00000054796ENST00000371263p.?c.245+6C>TUnknown
MUC16ENSG00000181143ENST00000397910p.G13127Gc.39381T>CSubstitution - coding silent
AGPAT5ENSG00000155189ENST00000285518p.K201Rc.602A>GSubstitution - Missense
TRPC5ENSG00000072315ENST00000262839p.L83Lc.249G>ASubstitution - coding silent
ENST00000422365_v68p.V367Ac.1100T>CSubstitution - Missense
SRSF11ENSG00000116754ENST00000370949p.V146Ic.436G>ASubstitution - Missense
ZNF177ENSG00000188629ENST00000343499p.R312Qc.935G>ASubstitution - Missense
MFSD6ENSG00000151690ENST00000392328p.Q762Qc.2286G>ASubstitution - coding silent
WDR24ENSG00000127580ENST00000293883p.R228Rc.684C>TSubstitution - coding silent
SACSENSG00000151835ENST00000382298p.R3048Hc.9143G>ASubstitution - Missense
CTBSENSG00000117151ENST00000370630p.A155Tc.463G>ASubstitution - Missense
GATMENSG00000171766ENST00000396659p.Q108Qc.324G>ASubstitution - coding silent
CPT2ENSG00000157184ENST00000371486p.P180Pc.540T>CSubstitution - coding silent
SSTR1ENSG00000139874ENST00000267377p.A138Vc.413C>TSubstitution - Missense
SYNE3ENSG00000176438ENST00000334258p.N970Sc.2909A>GSubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.Q1629Ec.4885C>GSubstitution - Missense
PCF11ENSG00000165494ENST00000298281p.R298Hc.893G>ASubstitution - Missense
DMXL2ENSG00000104093ENST00000251076p.F892fs*7c.2668_2669insAInsertion - Frameshift
ENST00000322367p.A287Vc.860C>TSubstitution - Missense
TDRD5ENSG00000162782ENST00000367614p.P68Pc.204C>TSubstitution - coding silent
CHD4ENSG00000111642ENST00000357008p.M623Ic.1869G>ASubstitution - Missense
MCTP2ENSG00000140563ENST00000357742p.Y75Cc.224A>GSubstitution - Missense
GDPGP1ENSG00000183208ENST00000329600p.P297Pc.891G>ASubstitution - coding silent
MUC2ENSG00000198788ENST00000441003p.I1242Tc.3725T>CSubstitution - Missense
CDNFENSG00000185267ENST00000465530p.P183Pc.549C>ASubstitution - coding silent
PRAMEF1ENSG00000116721ENST00000332296p.A114Ac.342C>ASubstitution - coding silent
SCNN1DENSG00000162572ENST00000379116p.F349fs*12c.1039delCDeletion - Frameshift
NADKENSG00000008130ENST00000344463p.A399Vc.1196C>TSubstitution - Missense
HNF1AENSG00000135100ENST00000257555p.Q561*c.1681C>TSubstitution - Nonsense
SLC18A3ENSG00000187714ENST00000374115p.M51Vc.151A>GSubstitution - Missense
ENST00000395293p.?c.1658+3A>GUnknown
FRMD8ENSG00000126391ENST00000317568p.S51Sc.153G>ASubstitution - coding silent
FOSL1ENSG00000175592ENST00000312562p.Y237Yc.711C>TSubstitution - coding silent
SFMBT2ENSG00000198879ENST00000379713p.A126Tc.376G>ASubstitution - Missense
LTBP3ENSG00000168056ENST00000322147p.G384Dc.1151G>ASubstitution - Missense
ENST00000398860p.R189Rc.567C>TSubstitution - coding silent
STARD13ENSG00000133121ENST00000336934p.T672Mc.2015C>TSubstitution - Missense
USP6NLENSG00000148429ENST00000277575p.S706Cc.2116A>TSubstitution - Missense
MKI67ENSG00000148773ENST00000368654p.D990Vc.2969A>TSubstitution - Missense
FANCIENSG00000140525ENST00000310775p.L772Vc.2314C>GSubstitution - Missense
KRT5ENSG00000186081ENST00000252242p.A309Tc.925G>ASubstitution - Missense
INTS4ENSG00000149262ENST00000534064p.R249Hc.746G>ASubstitution - Missense
RCOR1ENSG00000089902ENST00000570597p.P286fs*50c.853delCDeletion - Frameshift
ACIN1ENSG00000100813ENST00000262710p.E280Ec.840A>GSubstitution - coding silent
FGF14ENSG00000102466ENST00000376131p.R212*c.634C>TSubstitution - Nonsense
ENST00000368148p.T1473Mc.4418C>TSubstitution - Missense
SCN8AENSG00000196876ENST00000354534p.V1392Mc.4174G>ASubstitution - Missense
GOLGA3ENSG00000090615ENST00000204726p.L1121Rc.3362T>GSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.P565Lc.1694C>TSubstitution - Missense
SMARCC2ENSG00000139613ENST00000267064p.G1044fs*18c.3120_3121insCCInsertion - Frameshift
FEZ1ENSG00000149557ENST00000278919p.G155Sc.463G>ASubstitution - Missense
UGGT2ENSG00000102595ENST00000376747p.?c.2959-2A>GUnknown
GJA8ENSG00000121634ENST00000369235p.G119Ec.356G>ASubstitution - Missense
KRT2ENSG00000172867ENST00000309680p.I424Nc.1271T>ASubstitution - Missense
SACSENSG00000151835ENST00000382298p.K2931fs*22c.8793delADeletion - Frameshift
UBCENSG00000150991ENST00000339647p.G684fs*>2c.2051delGDeletion - Frameshift
EP300ENSG00000100393ENST00000263253p.H2324fs*29c.6964delCDeletion - Frameshift
MYCBP2ENSG00000005810ENST00000357337p.?c.1903+6T>CUnknown
KIAA1324LENSG00000164659ENST00000297222p.T726Mc.2177C>TSubstitution - Missense
GUCY2CENSG00000070019ENST00000261170p.N757fs*8c.2270delADeletion - Frameshift
TBC1D10AENSG00000099992ENST00000215790p.R181Hc.542G>ASubstitution - Missense
ENST00000290575p.S306Sc.918G>ASubstitution - coding silent
KIRREL2ENSG00000126259ENST00000360202p.C652fs*>57c.1947delCDeletion - Frameshift
CEP120ENSG00000168944ENST00000306467p.K738fs*29c.2213delADeletion - Frameshift
SGSM3ENSG00000100359ENST00000248929p.?c.474+6G>AUnknown
SOGA3ENSG00000214338ENST00000368268p.G686Sc.2056G>ASubstitution - Missense
ZHX2ENSG00000178764ENST00000314393p.G36Dc.107G>ASubstitution - Missense
MAPK12ENSG00000188130ENST00000215659p.V92Vc.276A>TSubstitution - coding silent
DEF6ENSG00000023892ENST00000316637p.G67Vc.200G>TSubstitution - Missense
TSHZ1ENSG00000179981ENST00000322038p.Y359Cc.1076A>GSubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.L1548Lc.4644G>ASubstitution - coding silent
GIPRENSG00000010310ENST00000263281p.L262Hc.785T>ASubstitution - Missense
CD2BP2ENSG00000169217ENST00000305596p.G134Sc.400G>ASubstitution - Missense
DMPKENSG00000104936ENST00000291270p.R334Qc.1001G>ASubstitution - Missense
SPSB4ENSG00000175093ENST00000310546p.R251Hc.752G>ASubstitution - Missense
PCCBENSG00000114054ENST00000251654p.R53Hc.158G>ASubstitution - Missense
MEIS1ENSG00000143995ENST00000272369p.K275fs*8c.820delADeletion - Frameshift
EML6ENSG00000214595ENST00000356458p.G1292Gc.3876A>CSubstitution - coding silent
NYAP1ENSG00000166924ENST00000300179p.P308Pc.924G>ASubstitution - coding silent
MEI1ENSG00000167077ENST00000300398p.R805Cc.2413C>TSubstitution - Missense
TRIM7ENSG00000146054ENST00000274773p.A210Vc.629C>TSubstitution - Missense
GRM1ENSG00000152822ENST00000392299p.D360Yc.1078G>TSubstitution - Missense
KLHL7ENSG00000122550ENST00000339077p.?c.937-7G>TUnknown
SLC12A4ENSG00000124067ENST00000316341p.?c.1455-8C>AUnknown
C2orf78ENSG00000187833ENST00000409561p.R736Wc.2206C>TSubstitution - Missense
ZNF418ENSG00000196724ENST00000396147p.Q101Qc.303G>ASubstitution - coding silent
KCNU1ENSG00000215262ENST00000399881p.K356Rc.1067A>GSubstitution - Missense
OTTHUMT00000056248.1p.N1381Kc.4143T>ASubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.P598Pc.1794C>TSubstitution - coding silent
CCDC22ENSG00000101997ENST00000376227p.A418Ac.1254G>ASubstitution - coding silent
PRR14LENSG00000183530ENST00000327423p.C1908Cc.5724C>TSubstitution - coding silent
KIAA0226ENSG00000145016ENST00000296343p.A922Vc.2765C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.P24254Lc.72761C>TSubstitution - Missense
DNMT3AENSG00000119772ENST00000321117p.Y908Hc.2722T>CSubstitution - Missense
NIT2ENSG00000114021ENST00000394140p.A162Vc.485C>TSubstitution - Missense
TCF25ENSG00000141002ENST00000263346p.A121Sc.361G>TSubstitution - Missense
TATDN2ENSG00000157014ENST00000287652p.A134Ac.402C>TSubstitution - coding silent
ANKRD30BENSG00000180777ENST00000358984p.R1013Gc.3037A>GSubstitution - Missense
MFSD6LENSG00000185156ENST00000329805p.Y37Cc.110A>GSubstitution - Missense
SLC14A2ENSG00000132874ENST00000255226p.S775Sc.2325A>GSubstitution - coding silent
BPIFB6ENSG00000167104ENST00000349552p.M282Tc.845T>CSubstitution - Missense
CLTCL1ENSG00000070371ENST00000263200p.T397Tc.1191G>ASubstitution - coding silent
HTTENSG00000197386ENST00000355072p.S1207Sc.3621T>CSubstitution - coding silent
KCTD8ENSG00000183783ENST00000360029p.S296Sc.888G>ASubstitution - coding silent
USP4ENSG00000114316ENST00000265560p.L918Lc.2752C>TSubstitution - coding silent
SLC13A4ENSG00000164707ENST00000354042p.A201Tc.601G>ASubstitution - Missense
FGFR1OPENSG00000213066ENST00000366847p.L289fs*1c.859delCDeletion - Frameshift
C7orf63ENSG00000105792ENST00000389297p.C809Cc.2427C>TSubstitution - coding silent
ZKSCAN5ENSG00000196652ENST00000394170p.R135Cc.403C>TSubstitution - Missense
STARD7ENSG00000084090ENST00000337288p.S216Nc.647G>ASubstitution - Missense
ROBO2ENSG00000185008ENST00000461745p.T728Tc.2184G>ASubstitution - coding silent
RSPRY1ENSG00000159579ENST00000394420p.R351Cc.1051C>TSubstitution - Missense
NOD2ENSG00000167207ENST00000300589p.V423Mc.1267G>ASubstitution - Missense
SGSM2ENSG00000141258ENST00000268989p.A581Tc.1741G>ASubstitution - Missense
SEZ6ENSG00000063015ENST00000317338p.T265fs*34c.792delCDeletion - Frameshift
TEX2ENSG00000136478ENST00000258991p.S266Sc.798C>TSubstitution - coding silent
MAST1ENSG00000105613ENST00000251472p.E371fs*10c.1107delGDeletion - Frameshift
CDC37ENSG00000105401ENST00000222005p.Y278Yc.834C>TSubstitution - coding silent
PDE4AENSG00000065989ENST00000440014p.V265Ac.794T>CSubstitution - Missense
RNF213ENSG00000173821ENST00000336301p.A2955Tc.8863G>ASubstitution - Missense
PTPRGENSG00000144724ENST00000474889p.P486Pc.1458A>GSubstitution - coding silent
MFHAS1ENSG00000147324ENST00000276282p.L797fs*45c.2388delGDeletion - Frameshift
FLNBENSG00000136068ENST00000295956p.R1436*c.4306C>TSubstitution - Nonsense
ACTR8ENSG00000113812ENST00000335754p.C293Rc.877T>CSubstitution - Missense
FXR2ENSG00000129245ENST00000250113p.A150Vc.449C>TSubstitution - Missense
NM_004259.4p.A630Vc.1889C>TSubstitution - Missense
ENST00000399211_v68p.G344Gc.1032G>ASubstitution - coding silent
FBXW10ENSG00000171931ENST00000395667p.I1031Tc.3092T>CSubstitution - Missense
CACNA1CENSG00000151067ENST00000347598p.R1704Cc.5110C>TSubstitution - Missense
PPP1R3CENSG00000119938ENST00000238994p.H129Hc.387C>TSubstitution - coding silent
TRAFD1ENSG00000135148ENST00000412615p.R121Hc.362G>ASubstitution - Missense
ATP1A3ENSG00000105409ENST00000302102p.S405Lc.1214C>TSubstitution - Missense
CLASP1ENSG00000074054ENST00000263710p.A1280Tc.3838G>ASubstitution - Missense
SGCGENSG00000102683ENST00000218867p.A220Vc.659C>TSubstitution - Missense
DMXL1ENSG00000172869ENST00000539542p.P2547Pc.7641A>GSubstitution - coding silent
TENM2ENSG00000145934ENST00000545108p.P1357Lc.4070C>TSubstitution - Missense
GTPBP2ENSG00000172432ENST00000442748p.?c.603-6G>TUnknown
KLHL12ENSG00000117153ENST00000435533p.L117fs*1c.350delTDeletion - Frameshift
FBXW10ENSG00000171931ENST00000308799p.I1041Tc.3122T>CSubstitution - Missense
SIDT1ENSG00000072858ENST00000393830p.T450Ac.1348A>GSubstitution - Missense
MERTKENSG00000153208ENST00000295408p.R909Cc.2725C>TSubstitution - Missense
ZNF407ENSG00000215421ENST00000577538p.E82Ec.246G>ASubstitution - coding silent
KIAA1468ENSG00000134444ENST00000256858p.N875Dc.2623A>GSubstitution - Missense
SYNE2ENSG00000054654ENST00000357395p.S21Tc.61T>ASubstitution - Missense
GLSENSG00000115419ENST00000338435p.R307Lc.920G>TSubstitution - Missense
SPTBN4ENSG00000160460ENST00000344104p.T153Tc.459G>ASubstitution - coding silent
DDX49ENSG00000105671ENST00000438170p.?c.608+5G>AUnknown
GNAI2ENSG00000114353ENST00000266027p.S128Sc.384A>GSubstitution - coding silent
SLMAPENSG00000163681ENST00000428312p.L129fs*58c.380delTDeletion - Frameshift
P2RX6ENSG00000099957ENST00000413302p.N202fs*63c.601delADeletion - Frameshift
NUP98ENSG00000110713ENST00000359171p.A210Vc.629C>TSubstitution - Missense
USP47ENSG00000170242ENST00000399455p.T606Ac.1816A>GSubstitution - Missense
RASSF7ENSG00000099849ENST00000397583p.A36Tc.106G>ASubstitution - Missense
CDK17ENSG00000059758ENST00000543119p.R71Wc.211C>TSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000553158p.S447Ic.1340G>TSubstitution - Missense
SETDB1ENSG00000143379ENST00000498193p.Q930Hc.2790G>TSubstitution - Missense
KLHL24ENSG00000114796ENST00000242810p.R173Hc.518G>ASubstitution - Missense
EHHADHENSG00000113790ENST00000231887p.T26Mc.77C>TSubstitution - Missense
OR10H5ENSG00000172519ENST00000308940p.I205Ic.615C>TSubstitution - coding silent
EMR2ENSG00000127507ENST00000315576p.K645Tc.1934A>CSubstitution - Missense
MRPS18AENSG00000096080ENST00000427312p.G154Ec.461G>ASubstitution - Missense
GRM4ENSG00000124493ENST00000374181p.I802Ic.2406C>TSubstitution - coding silent
RHAGENSG00000112077ENST00000371175p.?c.945+9A>GUnknown
TENM3ENSG00000218336ENST00000511685p.A1800Tc.5398G>ASubstitution - Missense
DBN1ENSG00000113758ENST00000292385p.?c.484-10G>AUnknown
DOCK2ENSG00000134516ENST00000256935p.M875Vc.2623A>GSubstitution - Missense
WWC1ENSG00000113645ENST00000265293p.Q519Hc.1557G>TSubstitution - Missense
MAN2B2ENSG00000013288ENST00000285599p.R899Wc.2695C>TSubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.S965Sc.2895T>CSubstitution - coding silent
IRGQENSG00000167378ENST00000422989p.S382Gc.1144A>GSubstitution - Missense
NOTCH3ENSG00000074181ENST00000263388p.G840Ec.2519G>ASubstitution - Missense
TMEM184AENSG00000164855ENST00000297477p.S41Nc.122G>ASubstitution - Missense
FAT2ENSG00000086570ENST00000261800p.G853Cc.2557G>TSubstitution - Missense
PCDHA4ENSG00000204967ENST00000530339p.L210fs*7c.622_623insTInsertion - Frameshift
CIRH1AENSG00000141076ENST00000314423p.T660Tc.1980A>GSubstitution - coding silent
ENST00000319379p.F3635Vc.10903T>GSubstitution - Missense
STAG3ENSG00000066923ENST00000426455p.P829fs*2c.2484_2485insTInsertion - Frameshift
PGBD1ENSG00000137338ENST00000259883p.A785Dc.2354C>ASubstitution - Missense
UFL1ENSG00000014123ENST00000369278p.S591Sc.1773G>ASubstitution - coding silent
UNC45BENSG00000141161ENST00000394570p.V200Mc.598G>ASubstitution - Missense
TAAR1ENSG00000146399ENST00000275216p.F267Lc.799T>CSubstitution - Missense
SLFN5ENSG00000166750ENST00000299977p.C302Cc.906C>TSubstitution - coding silent
LRPPRCENSG00000138095ENST00000260665p.E870Kc.2608G>ASubstitution - Missense
CATSPERGENSG00000099338ENST00000409235p.?c.1767+8G>CUnknown
ZHX2ENSG00000178764ENST00000314393p.G835Dc.2504G>ASubstitution - Missense
MTO1ENSG00000135297ENST00000370300p.G673Rc.2017G>ASubstitution - Missense
TERTENSG00000164362ENST00000310581p.S513Sc.1539C>TSubstitution - coding silent
RAPGEF6ENSG00000158987ENST00000308008p.E431Kc.1291G>ASubstitution - Missense
ANKRD32ENSG00000133302ENST00000265140p.M234Vc.700A>GSubstitution - Missense
ZNF407ENSG00000215421ENST00000299687p.E82Ec.246G>ASubstitution - coding silent
GTPBP1ENSG00000100226ENST00000216044p.S331Lc.992C>TSubstitution - Missense
FAM229BENSG00000203778ENST00000368656p.R45Wc.133C>TSubstitution - Missense
RBBP9ENSG00000089050ENST00000337227p.N43fs*40c.128delADeletion - Frameshift
RB1CC1ENSG00000023287ENST00000025008p.H609Rc.1826A>GSubstitution - Missense
HS1BP3ENSG00000118960ENST00000304031p.G188Gc.564C>TSubstitution - coding silent
NM_022459.3p.F328Lc.982T>CSubstitution - Missense
SOS2ENSG00000100485ENST00000216373p.N198Dc.592A>GSubstitution - Missense
RNF11ENSG00000123091ENST00000242719p.L15Lc.45G>ASubstitution - coding silent
PCSK6ENSG00000140479ENST00000331826p.G619Vc.1856G>TSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.R6208Hc.18623G>ASubstitution - Missense
RFWD3ENSG00000168411ENST00000361070p.R306Rc.918C>ASubstitution - coding silent
RASGRP1ENSG00000172575ENST00000310803p.L260Pc.779T>CSubstitution - Missense
CHST6ENSG00000183196ENST00000390664p.L117Lc.349C>TSubstitution - coding silent
DNAH10ENSG00000197653ENST00000409039p.R3266Wc.9796C>TSubstitution - Missense
PIWIL1ENSG00000125207ENST00000245255p.F778fs*3c.2329delTDeletion - Frameshift
CDK18ENSG00000117266ENST00000506784p.R156Rc.468C>TSubstitution - coding silent
IFLTD1ENSG00000152936ENST00000282881p.R373Qc.1118G>ASubstitution - Missense
KCNN3ENSG00000143603ENST00000271915p.S10Sc.30G>ASubstitution - coding silent
GON4LENSG00000116580ENST00000437809p.P1557Hc.4670C>ASubstitution - Missense
ST7LENSG00000007341ENST00000343210p.C551Cc.1653T>CSubstitution - coding silent
E2F8ENSG00000129173ENST00000250024p.I160Vc.478A>GSubstitution - Missense
MLF2ENSG00000089693ENST00000203630p.P66Pc.198C>ASubstitution - coding silent
MTNR1BENSG00000134640ENST00000257068p.Q279fs*25c.831delCDeletion - Frameshift
TMEM132DENSG00000151952ENST00000422113p.L515fs*3c.1543delCDeletion - Frameshift
TSR3ENSG00000007520ENST00000007390p.S280Nc.839G>ASubstitution - Missense
ARL14EPENSG00000152219ENST00000282032p.C76Cc.228T>CSubstitution - coding silent
ABTB2ENSG00000166016ENST00000298992p.T314Tc.942G>ASubstitution - coding silent
MRVI1ENSG00000072952ENST00000547195p.R590Wc.1768C>TSubstitution - Missense
ZFYVE26ENSG00000072121ENST00000347230p.D180Dc.540C>TSubstitution - coding silent
NPPBENSG00000120937ENST00000376468p.M93Tc.278T>CSubstitution - Missense
IGF1RENSG00000140443ENST00000268035p.P190Pc.570G>TSubstitution - coding silent
FOSENSG00000170345ENST00000303562p.G312Gc.936G>TSubstitution - coding silent
COPAENSG00000122218ENST00000368069p.G1188Ec.3563G>ASubstitution - Missense
DNHD1ENSG00000179532ENST00000254579p.L1737Lc.5209C>TSubstitution - coding silent
VPS51ENSG00000149823ENST00000279281p.Y738Cc.2213A>GSubstitution - Missense
JMJD1CENSG00000171988ENST00000399262p.R1072Cc.3214C>TSubstitution - Missense
STARD9ENSG00000159433ENST00000290607p.P1536Hc.4607C>ASubstitution - Missense
MAP1AENSG00000166963ENST00000300231p.P2208Rc.6623C>GSubstitution - Missense
SEC31BENSG00000075826ENST00000370345p.S352delSc.1050_1052delCTCDeletion - In frame
MYBPC1ENSG00000196091ENST00000361466p.A724Vc.2171C>TSubstitution - Missense
DARS2ENSG00000117593ENST00000361951p.R188*c.562C>TSubstitution - Nonsense
BRF1ENSG00000185024ENST00000440513p.S178fs*11c.531delCDeletion - Frameshift
HALENSG00000084110ENST00000261208p.A425Tc.1273G>ASubstitution - Missense
OR4N5ENSG00000184394ENST00000333629p.E227Gc.680A>GSubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.T619Mc.1856C>TSubstitution - Missense
A2ML1ENSG00000166535ENST00000299698p.T53Mc.158C>TSubstitution - Missense
OR10K1ENSG00000173285ENST00000289451p.V198Ac.593T>CSubstitution - Missense
PDE3AENSG00000172572ENST00000359062p.Q546*c.1636C>TSubstitution - Nonsense
KMT2DENSG00000167548ENST00000301067p.I3424Tc.10271T>CSubstitution - Missense
ARIH1ENSG00000166233ENST00000379887p.?c.1589+5deltUnknown
LGI1ENSG00000108231ENST00000371418p.Y489Cc.1466A>GSubstitution - Missense
ZNF33AENSG00000189180ENST00000307441p.E409fs*7c.1225_1226insGInsertion - Frameshift
RAP1GAPENSG00000076864ENST00000374761p.L380fs*18c.1138delCDeletion - Frameshift
HSPG2ENSG00000142798ENST00000374695p.L2285Fc.6853C>TSubstitution - Missense
ZNF488ENSG00000165388ENST00000395702p.G63Cc.187G>TSubstitution - Missense
NM_016377.2p.K57fs*21c.163delADeletion - Frameshift
STAG2ENSG00000101972ENST00000218089p.R370Qc.1109G>ASubstitution - Missense
HARSENSG00000170445ENST00000504156p.R86Cc.256C>TSubstitution - Missense
MVKENSG00000110921ENST00000228510p.G373Sc.1117G>ASubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.R4422Wc.13264C>TSubstitution - Missense
MVPENSG00000013364ENST00000395353p.R49Hc.146G>ASubstitution - Missense
CRXENSG00000105392ENST00000221996p.R40Wc.118C>TSubstitution - Missense
ROBO2ENSG00000185008ENST00000487694p.P1094fs*95c.3274delCDeletion - Frameshift
CELENSG00000170835ENST00000372080p.D207fs*41c.613delGDeletion - Frameshift
EBF3ENSG00000108001ENST00000440978p.S123Nc.368G>ASubstitution - Missense
KIF26AENSG00000066735ENST00000423312p.R1509Wc.4525C>TSubstitution - Missense
NDOR1ENSG00000188566ENST00000344894p.F262Fc.786C>TSubstitution - coding silent
NM_152424.1p.P163Sc.487C>TSubstitution - Missense
ITIH6ENSG00000102313ENST00000218436p.T406Ac.1216A>GSubstitution - Missense
ZNF852ENSG00000178917ENST00000436261p.R400Qc.1199G>ASubstitution - Missense
NBEAL2ENSG00000160796ENST00000292309p.S199Sc.597C>TSubstitution - coding silent
ENST00000265050p.?c.349+9G>AUnknown
PDIA5ENSG00000065485ENST00000316218p.R225Rc.675C>TSubstitution - coding silent
ADCY5ENSG00000173175ENST00000462833p.P265Lc.794C>TSubstitution - Missense
PIK3R4ENSG00000196455ENST00000356763p.A661Dc.1982C>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000359357p.V1937Ac.5810T>CSubstitution - Missense
PCOLCEENSG00000106333ENST00000223061p.A16Ac.48C>ASubstitution - coding silent
ZC3H4ENSG00000130749ENST00000253048p.G1158fs*102c.3473delGDeletion - Frameshift
GTF3C1ENSG00000077235ENST00000356183p.P798Sc.2392C>TSubstitution - Missense
RELBENSG00000104856ENST00000221452p.S148Sc.444G>ASubstitution - coding silent
BOD1L1ENSG00000038219ENST00000040738p.E2560Ec.7680A>GSubstitution - coding silent
WIPF3ENSG00000122574ENST00000409123p.A342Vc.1025C>TSubstitution - Missense
PIGAENSG00000165195ENST00000333590p.T32Ac.94A>GSubstitution - Missense
TKTL1ENSG00000007350ENST00000369915p.A358Ac.1074T>GSubstitution - coding silent
ENST00000316893p.V1270Mc.3808G>ASubstitution - Missense
WDR13ENSG00000101940ENST00000218056p.T139Mc.416C>TSubstitution - Missense
BCL6BENSG00000161940ENST00000293805p.P383Pc.1149G>ASubstitution - coding silent
GABARAPENSG00000170296ENST00000302386p.S110Nc.329G>ASubstitution - Missense
HPCAL1ENSG00000115756ENST00000381765p.G41Sc.121G>ASubstitution - Missense
NM_006904p.R2404Hc.7211G>ASubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.P659Pc.1977C>ASubstitution - coding silent
ZNF274ENSG00000171606ENST00000326804p.D272Gc.815A>GSubstitution - Missense
NTSR1ENSG00000101188ENST00000370501p.Q210Hc.630G>TSubstitution - Missense
LILRA5ENSG00000187116ENST00000301219p.R165Wc.493C>TSubstitution - Missense
SPASTENSG00000021574ENST00000315285p.?c.1413+4A>CUnknown
ENST00000405167p.T2991Ic.8972C>TSubstitution - Missense
GPR113ENSG00000173567ENST00000311519p.L464Lc.1392C>ASubstitution - coding silent
NBEAL1ENSG00000144426ENST00000449802p.?c.4478+1G>AUnknown
TTLL9ENSG00000131044ENST00000375938p.L50Lc.150C>TSubstitution - coding silent
BPIFB6ENSG00000167104ENST00000349552p.V168fs*26c.498_499insAInsertion - Frameshift
ENST00000356127p.K8986Rc.26957A>GSubstitution - Missense
NM_014916p.T1224Ic.3671C>TSubstitution - Missense
ENSG00000257743ENST00000477922p.W1062Cc.3186G>TSubstitution - Missense
PLECENSG00000178209ENST00000436759p.A4449Tc.13345G>ASubstitution - Missense
PLECENSG00000178209ENST00000345136p.A4422Tc.13264G>ASubstitution - Missense
KRTAP1-4ENSG00000204887ENST00000377747p.S52Sc.156C>TSubstitution - coding silent
NM_003895.2p.K798fs*27c.2393delADeletion - Frameshift
ENST00000251648p.R282Hc.845G>ASubstitution - Missense
CALD1ENSG00000122786ENST00000393118p.S258Sc.774G>ASubstitution - coding silent
KDM3AENSG00000115548ENST00000409556p.Q840Rc.2519A>GSubstitution - Missense
COL6A1ENSG00000142156ENST00000361866p.F31Lc.93C>ASubstitution - Missense
CADM2ENSG00000175161ENST00000383699p.?c.1096+10A>GUnknown
SLC12A3ENSG00000070915ENST00000438926p.R943Wc.2827C>TSubstitution - Missense
ENST00000425519p.H98Hc.294C>TSubstitution - coding silent
CBX2ENSG00000173894ENST00000269399p.G126Rc.376G>ASubstitution - Missense
SETBP1ENSG00000152217ENST00000282030p.A290Ac.870T>CSubstitution - coding silent
AZI1ENSG00000141577ENST00000374782p.D534Dc.1602C>TSubstitution - coding silent
NDC80ENSG00000080986ENST00000261597p.R562Wc.1684C>TSubstitution - Missense
ANKRD20A4ENSG00000172014ENST00000357336p.Q384Qc.1152G>ASubstitution - coding silent
CSH2ENSG00000213218ENST00000336844p.R45Cc.133C>TSubstitution - Missense
XM_042978.4p.P765Hc.2294C>ASubstitution - Missense
ALDH16A1ENSG00000161618ENST00000293350p.G222Rc.664G>ASubstitution - Missense
LENG8ENSG00000167615ENST00000326764p.R463Qc.1388G>ASubstitution - Missense
SIGLEC10ENSG00000142512ENST00000339313p.A315Dc.944C>ASubstitution - Missense
LILRA2ENSG00000239998ENST00000251376p.N201Sc.602A>GSubstitution - Missense
RRASENSG00000126458ENST00000246792p.G74Dc.221G>ASubstitution - Missense
CPED1ENSG00000106034ENST00000310396p.S999Sc.2997G>ASubstitution - coding silent
SSFA2ENSG00000138434ENST00000431877p.A882Tc.2644G>ASubstitution - Missense
QRICH2ENSG00000129646ENST00000262765p.R1262Sc.3784C>ASubstitution - Missense
IL12RB2ENSG00000081985ENST00000262345p.H83Hc.249C>TSubstitution - coding silent
ZNF701ENSG00000167562ENST00000391785p.E157Kc.469G>ASubstitution - Missense
SKOR1ENSG00000188779ENST00000380035p.P812Pc.2436C>TSubstitution - coding silent
ZSCAN21ENSG00000166529ENST00000543588p.V303Ac.908T>CSubstitution - Missense
FBXW7ENSG00000109670ENST00000263981p.R385Hc.1154G>ASubstitution - Missense
TRIM40ENSG00000204614ENST00000396581p.L205Lc.613C>TSubstitution - coding silent
CPED1ENSG00000106034ENST00000340646p.E131Gc.392A>GSubstitution - Missense
C9orf131ENSG00000174038ENST00000421362p.G97Gc.291C>GSubstitution - coding silent
GTF3C5ENSG00000148308ENST00000372095p.P40Lc.119C>TSubstitution - Missense
DDX60LENSG00000181381ENST00000505890p.F688Cc.2063T>GSubstitution - Missense
CADPS2ENSG00000081803ENST00000313070p.D1054Gc.3161A>GSubstitution - Missense
PROCA1ENSG00000167525ENST00000439862p.S301Lc.902C>TSubstitution - Missense
HIC1ENSG00000177374ENST00000322941p.A60Vc.179C>TSubstitution - Missense
KIAA0226ENSG00000145016ENST00000389665p.R760*c.2278C>TSubstitution - Nonsense
MDH1ENSG00000014641ENST00000539945p.V94Fc.280G>TSubstitution - Missense
CLEC16AENSG00000038532ENST00000409552p.T405Tc.1215C>TSubstitution - coding silent
ZNF850ENSG00000267041ENST00000591344p.E838Dc.2514G>TSubstitution - Missense
ATXN2LENSG00000168488ENST00000325215p.G234fs*33c.696delGDeletion - Frameshift
RPTORENSG00000141564ENST00000537330p.L272fs*>59c.815_816insTInsertion - Frameshift
GRHL1ENSG00000134317ENST00000405379p.R75fs*26c.213_214insAGInsertion - Frameshift
TRIM22ENSG00000132274ENST00000379965p.K103fs*31c.304delADeletion - Frameshift
NXF1ENSG00000162231ENST00000531709p.M138Ic.414G>ASubstitution - Missense
DISP1ENSG00000154309ENST00000360254p.P119Sc.355C>TSubstitution - Missense
CCDC173ENSG00000154479ENST00000447353p.A440Tc.1318G>ASubstitution - Missense
TNNT3ENSG00000130595ENST00000381579p.?c.68-4G>AUnknown
MEP1AENSG00000112818ENST00000230588p.N584fs*28c.1747delADeletion - Frameshift
MSH5ENSG00000204410ENST00000375742p.G614Rc.1840G>ASubstitution - Missense
VWA7ENSG00000204396ENST00000375688p.F762Fc.2286C>TSubstitution - coding silent
EMBENSG00000170571ENST00000303221p.Q126Kc.376C>ASubstitution - Missense
FAM193BENSG00000146067ENST00000443375p.L554Lc.1662C>TSubstitution - coding silent
CHRDENSG00000090539ENST00000204604p.V409Ac.1226T>CSubstitution - Missense
TBCCD1ENSG00000113838ENST00000338733p.V399Ic.1195G>ASubstitution - Missense
CD177ENSG00000204936ENST00000378009p.Y100Cc.299A>GSubstitution - Missense
TOX2ENSG00000124191ENST00000372999p.?c.1359-6T>AUnknown
SUPT5HENSG00000196235ENST00000359191p.T845Tc.2535C>ASubstitution - coding silent
MAGEC1ENSG00000155495ENST00000285879p.L616Pc.1847T>CSubstitution - Missense
P2RX6ENSG00000099957ENST00000336296p.N192fs*63c.571delADeletion - Frameshift
SUSD2ENSG00000099994ENST00000358321p.L220fs*58c.654delCDeletion - Frameshift
HDAC9ENSG00000048052ENST00000405010p.R257*c.769C>TSubstitution - Nonsense
GRHL2ENSG00000083307ENST00000251808p.?c.1612+9C>TUnknown
SLITRK2ENSG00000185985ENST00000447897p.L112Fc.334C>TSubstitution - Missense
SPTBN4ENSG00000160460ENST00000352632p.T153Tc.459G>ASubstitution - coding silent
UNC45BENSG00000141161ENST00000394570p.R222Wc.664C>TSubstitution - Missense
SLC23A1ENSG00000170482ENST00000353963p.?c.938-8G>AUnknown
PCDHA2ENSG00000204969ENST00000526136p.S724Sc.2172G>ASubstitution - coding silent
PCDHA3ENSG00000255408ENST00000522353p.R498Wc.1492C>TSubstitution - Missense
EIF3EENSG00000104408ENST00000220849p.E433Dc.1299G>TSubstitution - Missense
PPARGC1BENSG00000155846ENST00000309241p.A962Tc.2884G>ASubstitution - Missense
PMPCAENSG00000165688ENST00000371717p.R525Wc.1573C>TSubstitution - Missense
UBQLN1ENSG00000135018ENST00000376395p.Y269fs*2c.803_804insGInsertion - Frameshift
PCSK5ENSG00000099139ENST00000376767p.I239Ic.717C>ASubstitution - coding silent
NFKBIDENSG00000167604ENST00000396901p.?c.606+7G>AUnknown
TRIM2ENSG00000109654ENST00000437508p.I590Fc.1768A>TSubstitution - Missense
JUPENSG00000173801ENST00000393930p.H541Rc.1622A>GSubstitution - Missense
FAM83FENSG00000133477ENST00000333407p.V298Mc.892G>ASubstitution - Missense
COL19A1ENSG00000082293ENST00000322773p.?c.1681-4A>GUnknown
COL14A1ENSG00000187955ENST00000297848p.D1609Gc.4826A>GSubstitution - Missense
SLC17A5ENSG00000119899ENST00000355773p.V283Vc.849A>GSubstitution - coding silent
AKAP2ENSG00000241978ENST00000374525p.S350Sc.1050G>ASubstitution - coding silent
CC2D2AENSG00000048342ENST00000424120p.P339Pc.1017C>TSubstitution - coding silent
SH3BP2ENSG00000087266ENST00000356331p.R512Hc.1535G>ASubstitution - Missense
P4HTMENSG00000178467ENST00000383729p.E321Ec.963G>ASubstitution - coding silent
CTDP1ENSG00000060069ENST00000299543p.?c.2210+10C>TUnknown
NFATC1ENSG00000131196ENST00000329101p.P780Lc.2339C>TSubstitution - Missense
SLC35F1ENSG00000196376ENST00000360388p.I166Nc.497T>ASubstitution - Missense
GOSR2ENSG00000108433ENST00000225567p.R47Cc.139C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.L1751Pc.5252T>CSubstitution - Missense
ERBB4ENSG00000178568ENST00000342788p.S454Sc.1362C>TSubstitution - coding silent
FN1ENSG00000115414ENST00000336916p.V1807Dc.5420T>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.E10904Dc.32712G>CSubstitution - Missense
SPATA13ENSG00000182957ENST00000382108p.P622Pc.1866C>TSubstitution - coding silent
DDHD1ENSG00000100523ENST00000357758p.V682Ic.2044G>ASubstitution - Missense
PRKACBENSG00000142875ENST00000370688p.R145Wc.433C>TSubstitution - Missense
RRBP1ENSG00000125844ENST00000360807p.L797Lc.2391C>TSubstitution - coding silent
SPTBENSG00000070182ENST00000542895p.P1407Pc.4221G>ASubstitution - coding silent
PTPN21ENSG00000070778ENST00000328736p.A506Vc.1517C>TSubstitution - Missense
RBPMS2ENSG00000166831ENST00000300069p.A173Ac.519G>ASubstitution - coding silent
UNC79ENSG00000133958ENST00000553484p.F789Lc.2365T>CSubstitution - Missense
SLC1A3ENSG00000079215ENST00000265113p.T341Tc.1023A>GSubstitution - coding silent
SCAMP3ENSG00000116521ENST00000302631p.Q145Qc.435G>ASubstitution - coding silent
PKLRENSG00000143627ENST00000342741p.S140Ic.419G>TSubstitution - Missense
DNM1LENSG00000087470ENST00000553257p.?c.1239+6T>CUnknown
NINENSG00000100503ENST00000382041p.F1304Sc.3911T>CSubstitution - Missense
SLC24A5ENSG00000188467ENST00000341459p.G144Ec.431G>ASubstitution - Missense
MDGA2ENSG00000139915ENST00000357362p.T210Ac.628A>GSubstitution - Missense
OR2L3ENSG00000198128ENST00000359959p.S152Lc.455C>TSubstitution - Missense
HCAR3ENSG00000255398ENST00000528880p.S326Nc.977G>ASubstitution - Missense
MED6ENSG00000133997ENST00000256379p.S170Ac.508T>GSubstitution - Missense
FAM171A1ENSG00000148468ENST00000378116p.A243Vc.728C>TSubstitution - Missense
KNOP1ENSG00000103550ENST00000219837p.K199Kc.597A>GSubstitution - coding silent
B3GALT2ENSG00000162630ENST00000367434p.S72fs*20c.214delADeletion - Frameshift
LRRC23ENSG00000010626ENST00000007969p.L48fs*5c.137delCDeletion - Frameshift
BAIAP3ENSG00000007516ENST00000324385p.S660Pc.1978T>CSubstitution - Missense
BACE1ENSG00000186318ENST00000313005p.Y113Yc.339C>TSubstitution - coding silent
MRVI1ENSG00000072952ENST00000436272p.R654Wc.1960C>TSubstitution - Missense
DUSP8ENSG00000184545ENST00000397374p.D233Nc.697G>ASubstitution - Missense
CGP_EPHA10.1p.G940Gc.2820C>TSubstitution - coding silent
CAPN3ENSG00000092529ENST00000356316p.R350Cc.1048C>TSubstitution - Missense
MYBPC1ENSG00000196091ENST00000360610p.A699Vc.2096C>TSubstitution - Missense
SMAD9ENSG00000120693ENST00000379826p.T324Tc.972G>ASubstitution - coding silent
LRRC16BENSG00000186648ENST00000342740p.R51Rc.153C>TSubstitution - coding silent
CORO1BENSG00000172725ENST00000341356p.I137Tc.410T>CSubstitution - Missense
IKBIPENSG00000166130ENST00000342502p.A232Ac.696A>TSubstitution - coding silent
ADARB2ENSG00000185736ENST00000381312p.R665Wc.1993C>TSubstitution - Missense
EDRF1ENSG00000107938ENST00000356792p.S144Nc.431G>ASubstitution - Missense
EBF3ENSG00000108001ENST00000355311p.R342Sc.1024C>ASubstitution - Missense
GPR132ENSG00000183484ENST00000329797p.A147Tc.439G>ASubstitution - Missense
CD1BENSG00000158485ENST00000368168p.C318Cc.954C>TSubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.P565Lc.1694C>TSubstitution - Missense
KLHL35ENSG00000149243ENST00000539798p.E513fs*>71c.1537delGDeletion - Frameshift
CYP2C9ENSG00000138109ENST00000260682p.K432Rc.1295A>GSubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.S764Nc.2291G>ASubstitution - Missense
ZNF385AENSG00000161642ENST00000394313p.H205Yc.613C>TSubstitution - Missense
MATN4ENSG00000124159ENST00000372756p.R471Hc.1412G>ASubstitution - Missense
MYCBP2ENSG00000005810ENST00000407578p.S4388Sc.13164T>CSubstitution - coding silent
COL11A1ENSG00000060718ENST00000358392p.?c.4644+6T>CUnknown
DISP1ENSG00000154309ENST00000284476p.P119Sc.355C>TSubstitution - Missense
C6orf222ENSG00000189325ENST00000437635p.P502Pc.1506C>TSubstitution - coding silent
CES1ENSG00000198848ENST00000360526p.?c.540-1G>AUnknown
NM_004667.3p.S181fs*85c.541delADeletion - Frameshift
NM_003315.1p.N359fs*6c.1076delADeletion - Frameshift
AFG3L2ENSG00000141385ENST00000269143p.R599Hc.1796G>ASubstitution - Missense
ROBO2ENSG00000185008ENST00000461745p.P1078fs*95c.3226delCDeletion - Frameshift
PCDHA5ENSG00000204965ENST00000529859p.G573Sc.1717G>ASubstitution - Missense
RTN4ENSG00000115310ENST00000337526p.V670fs*4c.2007delADeletion - Frameshift
WDR13ENSG00000101940ENST00000218056p.P48fs*8c.138delCDeletion - Frameshift
KIF26BENSG00000162849ENST00000407071p.R1970Cc.5908C>TSubstitution - Missense
MYOM1ENSG00000101605ENST00000356443p.C1210Cc.3630C>TSubstitution - coding silent
ENST00000322367p.R1191Cc.3571C>TSubstitution - Missense
WDR87ENSG00000171804ENST00000447313p.K1626fs*9c.4878delADeletion - Frameshift
NM_024947.2p.?c.827-4A>GUnknown
GFRA3ENSG00000146013ENST00000274721p.K156Kc.468A>GSubstitution - coding silent
PTPRDENSG00000153707ENST00000537002p.D794Dc.2382C>TSubstitution - coding silent
ZNF792ENSG00000180884ENST00000404801p.I50Tc.149T>CSubstitution - Missense
AIM1ENSG00000112297ENST00000369066p.?c.3494+1G>AUnknown
GFRALENSG00000187871ENST00000340465p.P385Tc.1153C>ASubstitution - Missense
SGSM3ENSG00000100359ENST00000248929p.C565Fc.1694G>TSubstitution - Missense
NEIL2ENSG00000154328ENST00000455213p.S255Sc.765G>ASubstitution - coding silent
SVEP1ENSG00000165124ENST00000401783p.V562Mc.1684G>ASubstitution - Missense
PALM2-AKAP2ENSG00000157654ENST00000374530p.S492Sc.1476G>ASubstitution - coding silent
ZFP42ENSG00000179059ENST00000326866p.P42Pc.126T>CSubstitution - coding silent
FAM120CENSG00000184083ENST00000375180p.R231Wc.691C>TSubstitution - Missense
TUBB4BENSG00000188229ENST00000340384p.E343Kc.1027G>ASubstitution - Missense
PPAN-P2RY11ENSG00000243207ENST00000393796p.E229Kc.685G>ASubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.R4429*c.13285C>TSubstitution - Nonsense
EHD2ENSG00000024422ENST00000263277p.V100Ac.299T>CSubstitution - Missense
RNF40ENSG00000103549ENST00000324685p.A630Tc.1888G>ASubstitution - Missense
ENST00000317082p.T409Ac.1225A>GSubstitution - Missense
BFSP2ENSG00000170819ENST00000302334p.E204Ec.612G>ASubstitution - coding silent
BCL11AENSG00000119866ENST00000335712p.S627Rc.1881C>ASubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.T1855Sc.5564C>GSubstitution - Missense
CNKSR2ENSG00000149970ENST00000379510p.S685Sc.2055T>CSubstitution - coding silent
COL6A3ENSG00000163359ENST00000295550p.S1512fs*3c.4533delGDeletion - Frameshift
ENST00000373702p.?c.1965+6C>TUnknown
ZNF148ENSG00000163848ENST00000360647p.I395fs*2c.1183_1184insAInsertion - Frameshift
TTLL1ENSG00000100271ENST00000266254p.R273Hc.818G>ASubstitution - Missense
ENST00000358511_v70p.S42Yc.125C>ASubstitution - Missense
ANK2ENSG00000145362ENST00000357077p.S1858Pc.5572T>CSubstitution - Missense
ADAMTS12ENSG00000151388ENST00000504830p.G962Gc.2886T>CSubstitution - coding silent
GRM1ENSG00000152822ENST00000282753p.D360Yc.1078G>TSubstitution - Missense
XYLBENSG00000093217ENST00000207870p.A286Tc.856G>ASubstitution - Missense
LCATENSG00000213398ENST00000264005p.R423Cc.1267C>TSubstitution - Missense
ENST00000342345p.R706Wc.2116C>TSubstitution - Missense
KIAA0226ENSG00000145016ENST00000273582p.R690*c.2068C>TSubstitution - Nonsense
FAM47CENSG00000198173ENST00000358047p.E600Dc.1800G>TSubstitution - Missense
WDR13ENSG00000101940ENST00000376729p.R242Hc.725G>ASubstitution - Missense
LILRB2ENSG00000131042ENST00000314446p.R349Wc.1045C>TSubstitution - Missense
RSPO4ENSG00000101282ENST00000217260p.G79Gc.237C>TSubstitution - coding silent
NLRC4ENSG00000091106ENST00000404025p.?c.2350+9T>CUnknown
ALS2ENSG00000003393ENST00000264276p.P979Hc.2936C>ASubstitution - Missense
PLAGL2ENSG00000126003ENST00000246229p.D282Dc.846C>TSubstitution - coding silent
CECR1ENSG00000093072ENST00000399837p.E166Ec.498G>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.E26625Kc.79873G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.E26692Kc.80074G>ASubstitution - Missense
NM_003319p.C10474Yc.31421G>ASubstitution - Missense
HIST1H1EENSG00000168298ENST00000304218p.T45Ac.133A>GSubstitution - Missense
MST1ENSG00000173531ENST00000449682p.R373Wc.1117C>TSubstitution - Missense
PLECENSG00000178209ENST00000436759p.P3097Pc.9291C>TSubstitution - coding silent
POLR1AENSG00000068654ENST00000263857p.C733Cc.2199C>TSubstitution - coding silent
BBS2ENSG00000125124ENST00000245157p.H243delHc.727_729delCATDeletion - In frame
CD79BENSG00000007312ENST00000006750p.Y196Yc.588C>TSubstitution - coding silent
MAP2K3ENSG00000034152ENST00000361818p.V145Vc.435G>ASubstitution - coding silent
AZI1ENSG00000141577ENST00000450824p.D534Dc.1602C>TSubstitution - coding silent
MYL12BENSG00000118680ENST00000237500p.D42Vc.125A>TSubstitution - Missense
TLN1ENSG00000137076ENST00000314888p.R1222*c.3664C>TSubstitution - Nonsense
MAGI1ENSG00000151276ENST00000330909p.R957Cc.2869C>TSubstitution - Missense
ACTR8ENSG00000113812ENST00000231909p.C43Rc.127T>CSubstitution - Missense
REEP4ENSG00000168476ENST00000306306p.T204Ic.611C>TSubstitution - Missense
SU_NEK8p.?c.253+6C>AUnknown
SIGLEC7ENSG00000168995ENST00000317643p.G269Gc.807C>ASubstitution - coding silent
CTSZENSG00000101160ENST00000217131p.?c.488-2A>GUnknown
TMC8ENSG00000167895ENST00000318430p.?c.1251+4G>AUnknown
MYBBP1AENSG00000132382ENST00000254718p.E351Gc.1052A>GSubstitution - Missense
ENST00000450802_v68p.E345Ec.1035G>ASubstitution - coding silent
AGO3ENSG00000126070ENST00000373191p.A860Tc.2578G>ASubstitution - Missense
CORO1BENSG00000172725ENST00000545016p.I137Tc.410T>CSubstitution - Missense
A2ML1ENSG00000166535ENST00000299698p.?c.3108-3_3108-2insTUnknown
RYR2ENSG00000198626ENST00000366574p.V2320Mc.6958G>ASubstitution - Missense
TECPR2ENSG00000196663ENST00000359520p.E336Ec.1008A>GSubstitution - coding silent
UBE2NENSG00000177889ENST00000318066p.R14Hc.41G>ASubstitution - Missense
VPS37CENSG00000167987ENST00000301765p.R147Gc.439C>GSubstitution - Missense
ZNF84ENSG00000198040ENST00000392319p.R215Hc.644G>ASubstitution - Missense
ENST00000279593p.R1121Cc.3361C>TSubstitution - Missense
PCNXL2ENSG00000135749ENST00000258229p.V1782Dc.5345T>ASubstitution - Missense
MYO7AENSG00000137474ENST00000409709p.V2082Ic.6244G>ASubstitution - Missense
TNKS2ENSG00000107854ENST00000371627p.T345Sc.1034C>GSubstitution - Missense
WNT3AENSG00000154342ENST00000284523p.R173Wc.517C>TSubstitution - Missense
KIF20BENSG00000138182ENST00000416354p.V1722Ic.5164G>ASubstitution - Missense
RAG2ENSG00000175097ENST00000311485p.L21Lc.63G>ASubstitution - coding silent
INSRRENSG00000027644ENST00000368195p.G1208Gc.3624C>TSubstitution - coding silent
LMNAENSG00000160789ENST00000368300p.S295Sc.885G>ASubstitution - coding silent
KLF6ENSG00000067082ENST00000469435p.S84Nc.251G>ASubstitution - Missense
CR1ENSG00000203710ENST00000367049p.R136Qc.407G>ASubstitution - Missense
ENST00000326184p.R34*c.100C>TSubstitution - Nonsense
SLITRK5ENSG00000165300ENST00000325089p.R691Cc.2071C>TSubstitution - Missense
THSD1ENSG00000136114ENST00000258613p.T434Mc.1301C>TSubstitution - Missense
NIPA2ENSG00000140157ENST00000359727p.G34fs*11c.101delGDeletion - Frameshift
PWWP2AENSG00000170234ENST00000456329p.K334fs*25c.1001delADeletion - Frameshift
SEC24CENSG00000176986ENST00000345254p.Q459fs*17c.1368_1369insCInsertion - Frameshift
STK11IPENSG00000144589ENST00000295641p.R1037Hc.3110G>ASubstitution - Missense
POF1BENSG00000124429ENST00000373145p.R329*c.985C>TSubstitution - Nonsense
CPAMD8ENSG00000160111ENST00000291440p.R605Hc.1814G>ASubstitution - Missense
RPTORENSG00000141564ENST00000537330p.R303Wc.907C>TSubstitution - Missense
KIAA1731ENSG00000166004ENST00000411936p.Q1629Ec.4885C>GSubstitution - Missense
ADAM19ENSG00000135074ENST00000430702p.?c.1440-8G>AUnknown
SYNE1ENSG00000131018ENST00000448038p.S5011Ic.15032G>TSubstitution - Missense
EP400ENSG00000183495ENST00000333577p.L2913fs*106c.8738_8739insTInsertion - Frameshift
VEGFBENSG00000173511ENST00000426086p.D130fs*24c.378_379insAInsertion - Frameshift
TROVE2ENSG00000116747ENST00000367446p.R149Qc.446G>ASubstitution - Missense
NUP214ENSG00000126883ENST00000359428p.G1984Gc.5952A>TSubstitution - coding silent
FGF12ENSG00000114279ENST00000454309p.R43Mc.128G>TSubstitution - Missense
PROM1ENSG00000007062ENST00000447510p.S824Lc.2471C>TSubstitution - Missense
CHRDENSG00000090539ENST00000204604p.R207Hc.620G>ASubstitution - Missense
DGKGENSG00000058866ENST00000265022p.V148Ic.442G>ASubstitution - Missense
OR1L8ENSG00000171496ENST00000304865p.M82Tc.245T>CSubstitution - Missense
NM_012197.2p.R832Wc.2494C>TSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.R449Cc.1345C>TSubstitution - Missense
FCRL3ENSG00000160856ENST00000368186p.D352Nc.1054G>ASubstitution - Missense
HSP90AB1ENSG00000096384ENST00000371646p.E549delEc.1639_1641delGAGDeletion - In frame
GRK6ENSG00000198055ENST00000355472p.C565Cc.1695C>TSubstitution - coding silent
C2ENSG00000166278ENST00000299367p.L517Mc.1549C>ASubstitution - Missense
DPP6ENSG00000130226ENST00000377770p.?c.2246-5T>CUnknown
ZEB2ENSG00000169554ENST00000303660p.C312Rc.934T>CSubstitution - Missense
DDX1ENSG00000079785ENST00000381341p.L88Lc.264G>ASubstitution - coding silent
SCNN1BENSG00000168447ENST00000307331p.S565Sc.1695G>CSubstitution - coding silent
TRIM10ENSG00000204613ENST00000449742p.?c.929-1G>AUnknown
TRIM10ENSG00000204613ENST00000449742p.?c.929-1G>AUnknown
PIK3CGENSG00000105851ENST00000440650p.A885Tc.2653G>ASubstitution - Missense
RNF145ENSG00000145860ENST00000274542p.H603Rc.1808A>GSubstitution - Missense
CDHR3ENSG00000128536ENST00000317716p.?c.1826-10T>CUnknown
VPS41ENSG00000006715ENST00000310301p.R257*c.769C>TSubstitution - Nonsense
AVPR2ENSG00000126895ENST00000358927p.V270Mc.808G>ASubstitution - Missense
PCDHB6ENSG00000113211ENST00000231136p.R61Wc.181C>TSubstitution - Missense
UBE2D2ENSG00000131508ENST00000398733p.R90Qc.269G>ASubstitution - Missense
REPIN1ENSG00000214022ENST00000397281p.K315Rc.944A>GSubstitution - Missense
ZNF3ENSG00000166526ENST00000299667p.E225fs*200c.673delGDeletion - Frameshift
ABCA13ENSG00000179869ENST00000435803p.F3690Vc.11068T>GSubstitution - Missense
XM_372202.2p.L239Lc.717G>CSubstitution - coding silent
ELK1ENSG00000126767ENST00000247161p.L48fs*8c.141delGDeletion - Frameshift
GSRENSG00000104687ENST00000221130p.G286Gc.858C>TSubstitution - coding silent
ENST00000388944p.?c.608+1G>AUnknown
ARMC5ENSG00000140691ENST00000408912p.A685Ac.2055G>ASubstitution - coding silent
SRRDENSG00000100104ENST00000215917p.Y267Cc.800A>GSubstitution - Missense
ST8SIA5ENSG00000101638ENST00000315087p.Y3Yc.9C>TSubstitution - coding silent
FASTKD5ENSG00000215251ENST00000380266p.Q574fs*7c.1716delGDeletion - Frameshift
PDE11AENSG00000128655ENST00000358450p.?c.1495-1G>TUnknown
ENST00000356127p.K19386Kc.58158A>GSubstitution - coding silent
ADCY3ENSG00000138031ENST00000260600p.R886Hc.2657G>ASubstitution - Missense
PARD3BENSG00000116117ENST00000358768p.S92fs*14c.269_270insCInsertion - Frameshift
TRIM24ENSG00000122779ENST00000415680p.?c.1603-2A>GUnknown
KIAA1549ENSG00000122778ENST00000422774p.S1943Sc.5829C>TSubstitution - coding silent
MROH6ENSG00000204839ENST00000398882p.E121Dc.363G>TSubstitution - Missense
NM_014629.1p.Q767Hc.2301G>TSubstitution - Missense
PLECENSG00000178209ENST00000322810p.A4559Tc.13675G>ASubstitution - Missense
PLECENSG00000178209ENST00000354958p.A4400Tc.13198G>ASubstitution - Missense
TMEM200CENSG00000206432ENST00000383490p.A92Ac.276G>ASubstitution - coding silent
DHFRL1ENSG00000178700ENST00000394221p.Y178Yc.534C>TSubstitution - coding silent
MED1ENSG00000125686ENST00000300651p.A520Ac.1560C>TSubstitution - coding silent
GMDSENSG00000112699ENST00000380815p.R176Wc.526C>TSubstitution - Missense
GALNT1ENSG00000141429ENST00000269195p.V66Ic.196G>ASubstitution - Missense
ANKRD36CENSG00000174501ENST00000456556p.I467Vc.1399A>GSubstitution - Missense
ADRA2BENSG00000222040ENST00000409345p.G152Gc.456C>TSubstitution - coding silent
HRENSG00000168453ENST00000381418p.A281Ac.843T>GSubstitution - coding silent
CACNG5ENSG00000075429ENST00000169565p.Q222Qc.666A>GSubstitution - coding silent
GEMIN4ENSG00000179409ENST00000319004p.E329fs*24c.985delGDeletion - Frameshift
CNTROBENSG00000170037ENST00000380262p.R304Wc.910C>TSubstitution - Missense
NPLOC4ENSG00000182446ENST00000331134p.S493Yc.1478C>ASubstitution - Missense
NPR2ENSG00000159899ENST00000342694p.R848Qc.2543G>ASubstitution - Missense
VCPENSG00000165280ENST00000358901p.R465Wc.1393C>TSubstitution - Missense
FRMD4AENSG00000151474ENST00000264546p.P537Sc.1609C>TSubstitution - Missense
LIM2ENSG00000105370ENST00000221973p.G124Dc.371G>ASubstitution - Missense
ERBB4ENSG00000178568ENST00000402597p.S454Sc.1362C>TSubstitution - coding silent
SSFA2ENSG00000138434ENST00000320370p.A882Tc.2644G>ASubstitution - Missense
ENSG00000129951ENST00000359894p.G120Sc.358G>ASubstitution - Missense
MID1ENSG00000101871ENST00000453318p.R215Hc.644G>ASubstitution - Missense
FLIIENSG00000177731ENST00000327031p.R919Wc.2755C>TSubstitution - Missense
TNRC6CENSG00000078687ENST00000301624p.V1554Ic.4660G>ASubstitution - Missense
NSFL1CENSG00000088833ENST00000216879p.Q276Qc.828G>ASubstitution - coding silent
LYPLA1ENSG00000120992ENST00000316963p.M206Vc.616A>GSubstitution - Missense
INO80ENSG00000128908ENST00000361937p.G488Sc.1462G>ASubstitution - Missense
RANBP3LENSG00000164188ENST00000296604p.T157fs*13c.469delADeletion - Frameshift
ATP11AENSG00000068650ENST00000375630p.T693Tc.2079G>ASubstitution - coding silent
YTHDF2ENSG00000198492ENST00000373812p.A172Vc.515C>TSubstitution - Missense
SEPN1ENSG00000162430ENST00000361547p.?c.1011-1G>TUnknown
XM_371254.3p.L1328Lc.3984G>ASubstitution - coding silent
CHD4ENSG00000111642ENST00000357008p.R1068Hc.3203G>ASubstitution - Missense
MYO3AENSG00000095777ENST00000543632p.D89Gc.266A>GSubstitution - Missense
CELSR2ENSG00000143126ENST00000271332p.D1650Gc.4949A>GSubstitution - Missense
NXPE1ENSG00000095110ENST00000424269p.T379Ac.1135A>GSubstitution - Missense
ENST00000280354p.G82Vc.245G>TSubstitution - Missense
PHLDB1ENSG00000019144ENST00000361417p.R1285Hc.3854G>ASubstitution - Missense
ABI1ENSG00000136754ENST00000376142p.S323Pc.967T>CSubstitution - Missense
GATCENSG00000257218ENST00000551765p.C86Rc.256T>CSubstitution - Missense
CLEC16AENSG00000038532ENST00000409790p.T407Tc.1221C>TSubstitution - coding silent
TRPM1ENSG00000134160ENST00000397795p.Q1368Rc.4103A>GSubstitution - Missense
ZNHIT2ENSG00000174276ENST00000310597p.T396Pc.1186A>CSubstitution - Missense
MRPS16ENSG00000182180ENST00000372945p.I77Ic.231T>ASubstitution - coding silent
ENSAENSG00000143420ENST00000339643p.Q78Qc.234A>GSubstitution - coding silent
RORCENSG00000143365ENST00000318247p.R473Wc.1417C>TSubstitution - Missense
KDM5AENSG00000073614ENST00000399788p.V1434Mc.4300G>ASubstitution - Missense
NM_005056.1p.V1439Mc.4315G>ASubstitution - Missense
BCLAF1ENSG00000029363ENST00000531224p.A306Tc.916G>ASubstitution - Missense
CCDC73ENSG00000186714ENST00000335185p.E448fs*5c.1341delADeletion - Frameshift
TCF7L2ENSG00000148737ENST00000369397p.A374Vc.1121C>TSubstitution - Missense
LRRN2ENSG00000170382ENST00000367175p.R255Qc.764G>ASubstitution - Missense
ZNF684ENSG00000117010ENST00000372699p.N157Nc.471C>TSubstitution - coding silent
RABEPKENSG00000136933ENST00000373544p.G33Gc.99C>TSubstitution - coding silent
FAM171A1ENSG00000148468ENST00000378116p.A243Vc.728C>TSubstitution - Missense
KANK2ENSG00000197256ENST00000432929p.S33Sc.99C>TSubstitution - coding silent
ACTN1ENSG00000072110ENST00000394419p.T207Mc.620C>TSubstitution - Missense
OPRM1ENSG00000112038ENST00000435918p.I324Vc.970A>GSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.V2318Mc.6952G>ASubstitution - Missense
TROVE2ENSG00000116747ENST00000367446p.?c.1087-5T>CUnknown
C19orf55ENSG00000167595ENST00000535581p.Q288Rc.863A>GSubstitution - Missense
PIGBENSG00000069943ENST00000164305p.L262fs*3c.780delTDeletion - Frameshift
ZC3H13ENSG00000123200ENST00000242848p.S1240fs*15c.3718delADeletion - Frameshift
RYR2ENSG00000198626ENST00000360064p.G1468Vc.4403G>TSubstitution - Missense
PRDM12ENSG00000130711ENST00000253008p.Y38Yc.114C>TSubstitution - coding silent
LRRC8AENSG00000136802ENST00000372599p.K415Kc.1245G>ASubstitution - coding silent
TRAPPC9ENSG00000167632ENST00000389328p.R154Hc.461G>ASubstitution - Missense
OR1N1ENSG00000171505ENST00000304880p.P19Pc.57A>GSubstitution - coding silent
LRRC73ENSG00000204052ENST00000372441p.A312Vc.935C>TSubstitution - Missense
CLIC5ENSG00000112782ENST00000185206p.G189Cc.565G>TSubstitution - Missense
TAP1ENSG00000168394ENST00000354258p.G230Rc.688G>ASubstitution - Missense
EVCENSG00000072840ENST00000264956p.A73Vc.218C>TSubstitution - Missense
TANC1ENSG00000115183ENST00000263635p.N127Dc.379A>GSubstitution - Missense
ETHE1ENSG00000105755ENST00000292147p.R214Rc.642G>ASubstitution - coding silent
CENPBENSG00000125817ENST00000379751p.T117Ic.350C>TSubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.A1196Tc.3586G>ASubstitution - Missense
MAGEC1ENSG00000155495ENST00000285879p.V237Gc.710T>GSubstitution - Missense
BCRENSG00000186716ENST00000305877p.?c.3458-9C>AUnknown
SERPIND1ENSG00000099937ENST00000215727p.R376Wc.1126C>TSubstitution - Missense
PCDHA4ENSG00000204967ENST00000530339p.G574Gc.1722T>CSubstitution - coding silent
NRCAMENSG00000091129ENST00000379022p.R129Hc.386G>ASubstitution - Missense
C19orf55ENSG00000167595ENST00000396908p.Q300Rc.899A>GSubstitution - Missense
EPB41L2ENSG00000079819ENST00000368128p.T521Ic.1562C>TSubstitution - Missense
TRPV3ENSG00000167723ENST00000576742p.R462Hc.1385G>ASubstitution - Missense
GABRQENSG00000147402ENST00000370306p.D186Hc.556G>CSubstitution - Missense
ENST00000378129p.R498Wc.1492C>TSubstitution - Missense
EML4ENSG00000143924ENST00000318522p.R23Hc.68G>ASubstitution - Missense
ENST00000346816p.D679Dc.2037C>TSubstitution - coding silent
VPS13AENSG00000197969ENST00000376634p.V2296Ac.6887T>CSubstitution - Missense
ZNF462ENSG00000148143ENST00000457913p.G826Vc.2477G>TSubstitution - Missense
BAI3ENSG00000135298ENST00000370598p.A1368Tc.4102G>ASubstitution - Missense
SGSM3ENSG00000100359ENST00000248929p.R469Qc.1406G>ASubstitution - Missense
MYH9ENSG00000100345ENST00000216181p.A2Vc.5C>TSubstitution - Missense
DSTENSG00000151914ENST00000370769p.T6507Tc.19521G>ASubstitution - coding silent
LRP1BENSG00000168702ENST00000389484p.Y3580fs*5c.10734_10735insAInsertion - Frameshift
IL2RGENSG00000147168ENST00000374202p.K315Kc.945G>ASubstitution - coding silent
AMER1ENSG00000184675ENST00000330258p.P163Sc.487C>TSubstitution - Missense
SBF1ENSG00000100241ENST00000380817p.S968Nc.2903G>ASubstitution - Missense
TRIM50ENSG00000146755ENST00000333149p.I75Ic.225C>TSubstitution - coding silent
NM_004142.1p.A101Tc.301G>ASubstitution - Missense
ZNF541ENSG00000118156ENST00000391901p.A724Vc.2171C>TSubstitution - Missense
TMPRSS7ENSG00000176040ENST00000419127p.R14Rc.40C>ASubstitution - coding silent
DMDENSG00000198947ENST00000378707p.P502Lc.1505C>TSubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.R583Gc.1747C>GSubstitution - Missense
DTX2ENSG00000091073ENST00000324432p.R215Hc.644G>ASubstitution - Missense
LRRTM1ENSG00000162951ENST00000295057p.A206Tc.616G>ASubstitution - Missense
RNF144AENSG00000151692ENST00000320892p.Q200*c.598C>TSubstitution - Nonsense
EIF2AENSG00000144895ENST00000460851p.S191Cc.571A>TSubstitution - Missense
MRPL53ENSG00000204822ENST00000258105p.N26fs*12c.77delADeletion - Frameshift
DUS2ENSG00000167264ENST00000358896p.I45Ic.135C>TSubstitution - coding silent
DROSHAENSG00000113360ENST00000511367p.P80Lc.239C>TSubstitution - Missense
KIAA0226ENSG00000145016ENST00000273582p.A877Vc.2630C>TSubstitution - Missense
AHCYENSG00000101444ENST00000217426p.R431Cc.1291C>TSubstitution - Missense
CHD7ENSG00000171316ENST00000423902p.T719fs*9c.2151delADeletion - Frameshift
ENST00000354677p.K131fs*9c.389delADeletion - Frameshift
YTHDF3ENSG00000185728ENST00000539294p.R446Hc.1337G>ASubstitution - Missense
NXF3ENSG00000147206ENST00000395065p.?c.28+5G>AUnknown
TBC1D26ENSG00000214946ENST00000469477p.G108fs*8c.320delGDeletion - Frameshift
ITGB4ENSG00000132470ENST00000200181p.?c.2634-7G>AUnknown
MYO15AENSG00000091536ENST00000205890p.E396fs*48c.1179delCDeletion - Frameshift
PLD2ENSG00000129219ENST00000263088p.P539Sc.1615C>TSubstitution - Missense
CENPNENSG00000166451ENST00000439957p.N98Sc.293A>GSubstitution - Missense
FN1ENSG00000115414ENST00000336916p.A772Vc.2315C>TSubstitution - Missense
HS1BP3ENSG00000118960ENST00000304031p.Q363*c.1087C>TSubstitution - Nonsense
FN1ENSG00000115414ENST00000354785p.V1898Dc.5693T>ASubstitution - Missense
SLC44A3ENSG00000143036ENST00000467909p.C208Cc.624C>TSubstitution - coding silent
ZFYVE9ENSG00000157077ENST00000287727p.?c.3590-9C>TUnknown
NID2ENSG00000087303ENST00000216286p.N658Ic.1973A>TSubstitution - Missense
TTC7BENSG00000165914ENST00000328459p.Q543*c.1627C>TSubstitution - Nonsense
SYNE3ENSG00000176438ENST00000334258p.N970Sc.2909A>GSubstitution - Missense
FYBENSG00000082074ENST00000512982p.P325Tc.973C>ASubstitution - Missense
MYO5CENSG00000128833ENST00000261839p.G921Gc.2763G>TSubstitution - coding silent
SPPL2AENSG00000138600ENST00000261854p.S94fs*6c.278_279insGInsertion - Frameshift
LAX1ENSG00000122188ENST00000442561p.R67*c.199C>TSubstitution - Nonsense
JTBENSG00000143543ENST00000271843p.P62Sc.184C>TSubstitution - Missense
SHEENSG00000169291ENST00000304760p.?c.719-16_722del20Unknown
CACNA1CENSG00000151067ENST00000399617p.P1820Pc.5460G>ASubstitution - coding silent
KLHL42ENSG00000087448ENST00000381271p.A328Ac.984G>ASubstitution - coding silent
STK38LENSG00000211455ENST00000389032p.T9Ac.25A>GSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.S2717Fc.8150C>TSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.R214Mc.641G>TSubstitution - Missense
C11orf54ENSG00000182919ENST00000528288p.?c.228+7A>GUnknown
NM_006312.2p.R1233Hc.3698G>ASubstitution - Missense
DENND5AENSG00000184014ENST00000328194p.R1130Qc.3389G>ASubstitution - Missense
DVL1ENSG00000107404ENST00000378891p.G538Gc.1614C>TSubstitution - coding silent
C1orf54ENSG00000118292ENST00000369102p.V11Vc.33G>ASubstitution - coding silent
PARGENSG00000227345ENST00000402038p.T678Tc.2034G>ASubstitution - coding silent
CCAR1ENSG00000060339ENST00000265872p.A546Vc.1637C>TSubstitution - Missense
HPS6ENSG00000166189ENST00000299238p.A517Pc.1549G>CSubstitution - Missense
PLCH2ENSG00000149527ENST00000378486p.P695Pc.2085G>ASubstitution - coding silent
XPNPEP1ENSG00000108039ENST00000502935p.R92Wc.274C>TSubstitution - Missense
SUCOENSG00000094975ENST00000263688p.K489Ec.1465A>GSubstitution - Missense
FOXG1ENSG00000176165ENST00000382535p.E199Kc.595G>ASubstitution - Missense
MTA2ENSG00000149480ENST00000278823p.R466Sc.1398A>TSubstitution - Missense
ENST00000432996p.Q592Hc.1776G>CSubstitution - Missense
ENST00000370696p.T173Tc.519G>ASubstitution - coding silent
TMEM109ENSG00000110108ENST00000227525p.R36Hc.107G>ASubstitution - Missense
SLC18A2ENSG00000165646ENST00000298472p.Q276Qc.828G>ASubstitution - coding silent
ENST00000344698_v71p.V434Dc.1301T>ASubstitution - Missense
GALNT9ENSG00000182870ENST00000328957p.R209Qc.626G>ASubstitution - Missense
POLGENSG00000140521ENST00000268124p.R722Cc.2164C>TSubstitution - Missense
EPS8ENSG00000151491ENST00000281172p.Y613Yc.1839T>CSubstitution - coding silent
MTCH2ENSG00000109919ENST00000302503p.A230Vc.689C>TSubstitution - Missense
TRIM21ENSG00000132109ENST00000254436p.E12Dc.36G>TSubstitution - Missense
HECTD4ENSG00000173064ENST00000377560p.I310Ic.930C>ASubstitution - coding silent
ADCK3ENSG00000163050ENST00000366779p.A22Tc.64G>ASubstitution - Missense
CR1ENSG00000203710ENST00000400960p.R136Qc.407G>ASubstitution - Missense
SERP2ENSG00000151778ENST00000379179p.?c.157+2T>CUnknown
FAUENSG00000149806ENST00000529639p.A131Tc.391G>ASubstitution - Missense
ZNF688ENSG00000229809ENST00000223459p.P114Lc.341C>TSubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.D4433Nc.13297G>ASubstitution - Missense
DCXENSG00000077279ENST00000356915p.D313Gc.938A>GSubstitution - Missense
RPS6KA3ENSG00000177189ENST00000379565p.R712Hc.2135G>ASubstitution - Missense
NRCAMENSG00000091129ENST00000351718p.R123Hc.368G>ASubstitution - Missense
WDR87ENSG00000171804ENST00000303868p.K1587fs*9c.4761delADeletion - Frameshift
PKHD1L1ENSG00000205038ENST00000378402p.G2190fs*28c.6563delGDeletion - Frameshift
CAMSAP1ENSG00000130559ENST00000389532p.T665Tc.1995C>TSubstitution - coding silent
POMT1ENSG00000130714ENST00000372220p.I273Ic.819C>TSubstitution - coding silent
ZNF540ENSG00000171817ENST00000316433p.R260Rc.780A>GSubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.S1782Rc.5346C>ASubstitution - Missense
PRR23BENSG00000184814ENST00000329447p.S118Lc.353C>TSubstitution - Missense
GAB1ENSG00000109458ENST00000262995p.R671Rc.2013T>CSubstitution - coding silent
KLF8ENSG00000102349ENST00000468660p.S215Ac.643T>GSubstitution - Missense
WNK3ENSG00000196632ENST00000354646p.S1275fs*26c.3823delADeletion - Frameshift
ISYNA1ENSG00000105655ENST00000338128p.V440Mc.1318G>ASubstitution - Missense
FREM3ENSG00000183090ENST00000329798p.L141_Q142insLLc.415_416insTGCTGCInsertion - In frame
NUP210ENSG00000132182ENST00000254508p.T1181Mc.3542C>TSubstitution - Missense
ARHGAP8ENSG00000241484ENST00000389774p.A315Ac.945C>ASubstitution - coding silent
KIAA0930ENSG00000100364ENST00000251993p.D54Dc.162C>TSubstitution - coding silent
OTX1ENSG00000115507ENST00000282549p.N202Sc.605A>GSubstitution - Missense
RNF182ENSG00000180537ENST00000537663p.S140fs*14c.410_411delAGDeletion - Frameshift
MBTPS2ENSG00000012174ENST00000379484p.Q305fs*6c.910delCDeletion - Frameshift
PHEXENSG00000102174ENST00000379374p.V442Ac.1325T>CSubstitution - Missense
TTLENSG00000114999ENST00000233336p.A88Tc.262G>ASubstitution - Missense
CDH11ENSG00000140937ENST00000268603p.N688Nc.2064T>CSubstitution - coding silent
SDHAENSG00000073578ENST00000264932p.R261Cc.781C>TSubstitution - Missense
CANXENSG00000127022ENST00000247461p.G190Dc.569G>ASubstitution - Missense
ANKRD28ENSG00000206560ENST00000399451p.T428Ac.1282A>GSubstitution - Missense
TRIM7ENSG00000146054ENST00000393319p.A28Vc.83C>TSubstitution - Missense
NM_033267.2p.Y389Yc.1167C>TSubstitution - coding silent
FAM47CENSG00000198173ENST00000358047p.P659Pc.1977C>ASubstitution - coding silent
NEURL4ENSG00000215041ENST00000399464p.L1191Lc.3571C>TSubstitution - coding silent
RBM3ENSG00000102317ENST00000354480p.A135Tc.403G>ASubstitution - Missense
ZNF787ENSG00000142409ENST00000270459p.T117Tc.351G>ASubstitution - coding silent
ZNF418ENSG00000196724ENST00000396147p.P481Pc.1443A>GSubstitution - coding silent
IFT172ENSG00000138002ENST00000260570p.R1189Hc.3566G>ASubstitution - Missense
THRBENSG00000151090ENST00000396671p.?c.23-8C>TUnknown
UNC5DENSG00000156687ENST00000287272p.D303Vc.908A>TSubstitution - Missense
PRKXENSG00000183943ENST00000262848p.P243Pc.729G>ASubstitution - coding silent
SEC24BENSG00000138802ENST00000265175p.V1099Ac.3296T>CSubstitution - Missense
USP9XENSG00000124486ENST00000324545p.N1388Kc.4164T>ASubstitution - Missense
UBA1ENSG00000130985ENST00000442035p.X285Xc.853G>TSubstitution - coding silent
DNASE1ENSG00000213918ENST00000246949p.C123Yc.368G>ASubstitution - Missense
ZNF845ENSG00000213799ENST00000458035p.L202Vc.604C>GSubstitution - Missense
GATSL3ENSG00000239282ENST00000407689p.R165Cc.493C>TSubstitution - Missense
ENST00000221204p.E29Qc.85G>CSubstitution - Missense
MSR1ENSG00000038945ENST00000381998p.P33Tc.97C>ASubstitution - Missense
CEP192ENSG00000101639ENST00000325971p.P1780Lc.5339C>TSubstitution - Missense
SNX16ENSG00000104497ENST00000396330p.R313Ic.938G>TSubstitution - Missense
NM_003319p.Y17356Cc.52067A>GSubstitution - Missense
SLC39A10ENSG00000196950ENST00000359634p.V280Ac.839T>CSubstitution - Missense
LRRC16AENSG00000079691ENST00000329474p.K1214fs*88c.3640delADeletion - Frameshift
CCR6ENSG00000112486ENST00000400926p.C57Rc.169T>CSubstitution - Missense
LMTK2ENSG00000164715ENST00000297293p.T1224Ic.3671C>TSubstitution - Missense
ADCK5ENSG00000173137ENST00000308860p.S359Sc.1077G>ASubstitution - coding silent
ARHGEF10ENSG00000104728ENST00000349830p.Q990Hc.2970G>TSubstitution - Missense
NCOA2ENSG00000140396ENST00000452400p.G670Gc.2010T>CSubstitution - coding silent
RUFY3ENSG00000018189ENST00000381006p.P593Pc.1779T>ASubstitution - coding silent
CORINENSG00000145244ENST00000273857p.C785Cc.2355T>CSubstitution - coding silent
KRTAP21-1ENSG00000187005ENST00000335093p.S14Sc.42C>TSubstitution - coding silent
ENST00000400482p.L84Lc.252A>GSubstitution - coding silent
GIT1ENSG00000108262ENST00000394869p.P532fs*17c.1595delCDeletion - Frameshift
ZNF440ENSG00000171295ENST00000304060p.N353Sc.1058A>GSubstitution - Missense
SLC38A10ENSG00000157637ENST00000374759p.D923fs*4c.2767delGDeletion - Frameshift
KDM3AENSG00000115548ENST00000409556p.Q840Rc.2519A>GSubstitution - Missense
BMP1ENSG00000168487ENST00000306385p.P781Pc.2343C>TSubstitution - coding silent
PROCA1ENSG00000167525ENST00000301039p.S299Lc.896C>TSubstitution - Missense
NAPSAENSG00000131400ENST00000253719p.R28Cc.82C>TSubstitution - Missense
SIGLEC10ENSG00000142512ENST00000439889p.A257Dc.770C>ASubstitution - Missense
HRH3ENSG00000101180ENST00000340177p.R99Hc.296G>ASubstitution - Missense
WDR93ENSG00000140527ENST00000268130p.P563Pc.1689G>TSubstitution - coding silent
OR4M1ENSG00000176299ENST00000315957p.S110Sc.330G>ASubstitution - coding silent
AJUBAENSG00000129474ENST00000262713p.V452Ic.1354G>ASubstitution - Missense
C1QAENSG00000173372ENST00000374642p.E2Gc.5A>GSubstitution - Missense
WAPALENSG00000062650ENST00000298767p.K552Kc.1656A>GSubstitution - coding silent
SLITRK6ENSG00000184564ENST00000400286p.D41fs*5c.120delADeletion - Frameshift
OAS1ENSG00000089127ENST00000452357p.P301Lc.902C>TSubstitution - Missense
RAP1GAPENSG00000076864ENST00000374761p.A341Tc.1021G>ASubstitution - Missense
LRRC15ENSG00000172061ENST00000347624p.R203Qc.608G>ASubstitution - Missense
OR5AP2ENSG00000172464ENST00000302981p.R267Hc.800G>ASubstitution - Missense
PRSS36ENSG00000178226ENST00000268281p.R613*c.1837C>TSubstitution - Nonsense
C5orf42ENSG00000197603ENST00000425232p.T776fs*8c.2326delADeletion - Frameshift
PLXNA3ENSG00000130827ENST00000369682p.C721Cc.2163C>TSubstitution - coding silent
XM_373347.2p.R197*c.589C>TSubstitution - Nonsense
SMG7ENSG00000116698ENST00000347615p.M849fs*1c.2537delADeletion - Frameshift
ITGA1ENSG00000213949ENST00000282588p.R266Qc.797G>ASubstitution - Missense
IFT172ENSG00000138002ENST00000260570p.A944Vc.2831C>TSubstitution - Missense
ZNF34ENSG00000196378ENST00000343459p.K249fs*75c.747delADeletion - Frameshift
QKIENSG00000112531ENST00000361752p.K134fs*14c.394delADeletion - Frameshift
ENST00000402998p.R907*c.2719C>TSubstitution - Nonsense
GABRB1ENSG00000163288ENST00000295454p.R428Cc.1282C>TSubstitution - Missense
ZNF658ENSG00000196409ENST00000377626p.E190Ec.570A>GSubstitution - coding silent
MKRN3ENSG00000179455ENST00000314520p.R305Cc.913C>TSubstitution - Missense
EHMT2ENSG00000204371ENST00000375537p.R1132Qc.3395G>ASubstitution - Missense
RSPH6AENSG00000104941ENST00000221538p.E295Dc.885G>TSubstitution - Missense
NAV2ENSG00000166833ENST00000360655p.R2307Cc.6919C>TSubstitution - Missense
EPS8L3ENSG00000198758ENST00000369805p.A102Vc.305C>TSubstitution - Missense
NUP214ENSG00000126883ENST00000451030p.G1985Gc.5955A>TSubstitution - coding silent
PTCD1ENSG00000106246ENST00000555673p.A645Ac.1935G>ASubstitution - coding silent
STAT5AENSG00000126561ENST00000452307p.R429Wc.1285C>TSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.A3039Vc.9116C>TSubstitution - Missense
DDX39BENSG00000198563ENST00000428450p.L189Lc.565C>TSubstitution - coding silent
PHEXENSG00000102174ENST00000418858p.V145Ac.434T>CSubstitution - Missense
ZNF124ENSG00000196418ENST00000543802p.M351fs?c.1051delADeletion - Frameshift
RTFDC1ENSG00000022277ENST00000357348p.P291Lc.872C>TSubstitution - Missense
TPX2ENSG00000088325ENST00000340513p.Q116Qc.348G>ASubstitution - coding silent
ENST00000370589_v70p.E192*c.574G>TSubstitution - Nonsense
WNT3AENSG00000154342ENST00000366753p.R173Wc.517C>TSubstitution - Missense
UNC13AENSG00000130477ENST00000252773p.R980Wc.2938C>TSubstitution - Missense
DOCK1ENSG00000150760ENST00000280333p.R322Wc.964C>TSubstitution - Missense
SFMBT2ENSG00000198879ENST00000379711p.A126Tc.376G>ASubstitution - Missense
DCST1ENSG00000163357ENST00000368419p.R498Hc.1493G>ASubstitution - Missense
GOLPH3LENSG00000143457ENST00000427665p.H6Rc.17A>GSubstitution - Missense
FNBP1ENSG00000187239ENST00000420781p.A95Tc.283G>ASubstitution - Missense
PPP2R2BENSG00000156475ENST00000504198p.T35Mc.104C>TSubstitution - Missense
CCNYENSG00000108100ENST00000374704p.T119Ac.355A>GSubstitution - Missense
DBN1ENSG00000113758ENST00000309007p.?c.478-10G>AUnknown
DOCK2ENSG00000134516ENST00000256935p.C453Rc.1357T>CSubstitution - Missense
MIER3ENSG00000155545ENST00000381213p.C316Cc.948T>CSubstitution - coding silent
DDX4ENSG00000152670ENST00000505374p.?c.69+7A>GUnknown
CRATENSG00000095321ENST00000318080p.P183Sc.547C>TSubstitution - Missense
ZER1ENSG00000160445ENST00000291900p.Q655Qc.1965G>ASubstitution - coding silent
LRRC8AENSG00000136802ENST00000372599p.A714Vc.2141C>TSubstitution - Missense
ALG3ENSG00000214160ENST00000397676p.R122Hc.365G>ASubstitution - Missense
TOX2ENSG00000124191ENST00000413823p.?c.305-6T>AUnknown
GCKENSG00000106633ENST00000403799p.A259Tc.775G>ASubstitution - Missense
HDAC9ENSG00000048052ENST00000441542p.R260*c.778C>TSubstitution - Nonsense
ABCA13ENSG00000179869ENST00000435803p.I801Ic.2403T>CSubstitution - coding silent
MYO1DENSG00000176658ENST00000318217p.R941Qc.2822G>ASubstitution - Missense
PCDHGA2ENSG00000081853ENST00000394576p.T569Tc.1707A>GSubstitution - coding silent
FCN2ENSG00000160339ENST00000291744p.A182Tc.544G>ASubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.D1208Dc.3624C>TSubstitution - coding silent
PPP2R2BENSG00000156475ENST00000508545p.T18Mc.53C>TSubstitution - Missense
LCN15ENSG00000177984ENST00000316144p.?c.97-5G>AUnknown
FILIP1LENSG00000168386ENST00000331335p.M98fs*19c.292delADeletion - Frameshift
GAD1ENSG00000128683ENST00000358196p.N108Nc.324C>TSubstitution - coding silent
TMEM131ENSG00000075568ENST00000186436p.P1203Pc.3609G>ASubstitution - coding silent
PARD3BENSG00000116117ENST00000358768p.S92fs*14c.269_270insCInsertion - Frameshift
PTPRSENSG00000105426ENST00000357368p.G818Gc.2454C>TSubstitution - coding silent
PYGBENSG00000100994ENST00000216962p.P635Tc.1903C>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.Y17548Cc.52643A>GSubstitution - Missense
NT5DC2ENSG00000168268ENST00000307076p.D515Dc.1545C>TSubstitution - coding silent
FAM65BENSG00000111913ENST00000259698p.R388Hc.1163G>ASubstitution - Missense
BRAFENSG00000157764ENST00000288602p.A404fs*9c.1201_1202insCInsertion - Frameshift
TRRAPENSG00000196367ENST00000355540p.?c.1036+4C>TUnknown
NM_032457.1p.A1139Ac.3417C>TSubstitution - coding silent
CACNA2D2ENSG00000007402ENST00000424201p.?c.1773+3A>GUnknown
MOCOSENSG00000075643ENST00000261326p.C686Cc.2058T>CSubstitution - coding silent
RNF213ENSG00000173821ENST00000319921p.D516Dc.1548C>TSubstitution - coding silent
KEAP1ENSG00000079999ENST00000393623p.G477Cc.1429G>TSubstitution - Missense
ZNF653ENSG00000161914ENST00000293771p.T587Mc.1760C>TSubstitution - Missense
INTS8ENSG00000164941ENST00000523731p.Y455Hc.1363T>CSubstitution - Missense
ANKRD13BENSG00000198720ENST00000394859p.L307Lc.921G>ASubstitution - coding silent
ACEENSG00000159640ENST00000290863p.P529fs*69c.1581delCDeletion - Frameshift
MRC2ENSG00000011028ENST00000303375p.V358Ac.1073T>CSubstitution - Missense
MYH7BENSG00000078814ENST00000262873p.G1679Gc.5037C>TSubstitution - coding silent
CHMP2AENSG00000130724ENST00000312547p.F5Fc.15C>TSubstitution - coding silent
PLD2ENSG00000129219ENST00000263088p.P539Sc.1615C>TSubstitution - Missense
CRNKL1ENSG00000101343ENST00000377340p.P307Sc.919C>TSubstitution - Missense
SH2D3AENSG00000125731ENST00000245908p.A445Ac.1335C>TSubstitution - coding silent
CHST6ENSG00000183196ENST00000390664p.L88Mc.262C>ASubstitution - Missense
XPO4ENSG00000132953ENST00000255305p.F355Lc.1063T>CSubstitution - Missense
THAP3ENSG00000041988ENST00000377627p.E32Ec.96G>ASubstitution - coding silent
SIRPAENSG00000198053ENST00000400068p.Q422Qc.1266G>ASubstitution - coding silent
XRN2ENSG00000088930ENST00000377191p.R417*c.1249C>TSubstitution - Nonsense
FGD4ENSG00000139132ENST00000427716p.S68Fc.203C>TSubstitution - Missense
ACOT11ENSG00000162390ENST00000371316p.F292Cc.875T>GSubstitution - Missense
NINENSG00000100503ENST00000382041p.F1304Sc.3911T>CSubstitution - Missense
NID2ENSG00000087303ENST00000216286p.H548Rc.1643A>GSubstitution - Missense
SYNE3ENSG00000176438ENST00000334258p.N615Sc.1844A>GSubstitution - Missense
ZBTB1ENSG00000126804ENST00000394712p.R542Cc.1624C>TSubstitution - Missense
OR2L2ENSG00000203663ENST00000366479p.I173Tc.518T>CSubstitution - Missense
IFLTD1ENSG00000152936ENST00000458174p.R394Qc.1181G>ASubstitution - Missense
ZBTB7BENSG00000160685ENST00000292176p.A101Tc.301G>ASubstitution - Missense
TMEM19ENSG00000139291ENST00000266673p.L325Lc.975C>TSubstitution - coding silent
NELL1ENSG00000165973ENST00000357134p.S786Pc.2356T>CSubstitution - Missense
DYNC2H1ENSG00000187240ENST00000334267p.Y530Hc.1588T>CSubstitution - Missense
SETDB1ENSG00000143379ENST00000271640p.Q470fs*4c.1402_1403insCInsertion - Frameshift
SETDB1ENSG00000143379ENST00000271640p.Q930Hc.2790G>TSubstitution - Missense
NADKENSG00000008130ENST00000341991p.A232Tc.694G>ASubstitution - Missense
NOS1ENSG00000089250ENST00000317775p.S1181Sc.3543C>TSubstitution - coding silent
MLXIPENSG00000175727ENST00000377037p.V202Ac.605T>CSubstitution - Missense
MLXIPENSG00000175727ENST00000319080p.P902Sc.2704C>TSubstitution - Missense
MSI1ENSG00000135097ENST00000257552p.?c.791-2A>GUnknown
SIRT1ENSG00000096717ENST00000212015p.G156Gc.468T>GSubstitution - coding silent
DCLRE1AENSG00000198924ENST00000369305p.E373Dc.1119A>CSubstitution - Missense
XM_048898.8p.G889Sc.2665G>ASubstitution - Missense
FAM160B1ENSG00000151553ENST00000369248p.S323Pc.967T>CSubstitution - Missense
NR1H4ENSG00000012504ENST00000551379p.?c.1223-2_1224delagATUnknown
ZNF839ENSG00000022976ENST00000442396p.P764fs*17c.2284delGDeletion - Frameshift
CDCA4ENSG00000170779ENST00000392590p.T171Ic.512C>TSubstitution - Missense
TTC40ENSG00000171811ENST00000368582p.Q138Rc.413A>GSubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.V1244fs*7c.3723_3724insCInsertion - Frameshift
CEP170ENSG00000143702ENST00000366542p.K736Nc.2208G>TSubstitution - Missense
SCN8AENSG00000196876ENST00000354534p.A1017Tc.3049G>ASubstitution - Missense
TARBP1ENSG00000059588ENST00000040877p.?c.1248+7A>GUnknown
ENST00000300053p.S344Rc.1032C>GSubstitution - Missense
EDRF1ENSG00000107938ENST00000337623p.V1186Ac.3557T>CSubstitution - Missense
DENND5BENSG00000170456ENST00000354285p.?c.1927+10C>TUnknown
SHMT2ENSG00000182199ENST00000393827p.S308Cc.923C>GSubstitution - Missense
ENST00000318560_v70p.V422Vc.1266C>ASubstitution - coding silent
GOLGA1ENSG00000136935ENST00000373555p.E550*c.1648G>TSubstitution - Nonsense
MYO3BENSG00000071909ENST00000408978p.L1235Fc.3705G>CSubstitution - Missense
DOCK10ENSG00000135905ENST00000409592p.?c.6426+6C>TUnknown
ABCA12ENSG00000144452ENST00000389661p.Y1332Yc.3996C>TSubstitution - coding silent
MEGF8ENSG00000105429ENST00000251268p.D1701Hc.5101G>CSubstitution - Missense
GRM4ENSG00000124493ENST00000374181p.M643Tc.1928T>CSubstitution - Missense
HAND2ENSG00000164107ENST00000359562p.V83fs*>136c.240_241insGInsertion - Frameshift
FBXW11ENSG00000072803ENST00000265094p.R494Hc.1481G>ASubstitution - Missense
IRGCENSG00000124449ENST00000244314p.G61Gc.183C>TSubstitution - coding silent
PRPF40AENSG00000196504ENST00000410080p.K411fs*40c.1232delADeletion - Frameshift
LNX1ENSG00000072201ENST00000306888p.L545Lc.1635A>GSubstitution - coding silent
DPP6ENSG00000130226ENST00000404039p.T9Tc.27C>TSubstitution - coding silent
HLA-FENSG00000204642ENST00000259951p.A157Vc.470C>TSubstitution - Missense
DHX16ENSG00000204560ENST00000376442p.G422Gc.1266C>TSubstitution - coding silent
LTBP4ENSG00000090006ENST00000308370p.A1408fs*3c.4214_4215insCInsertion - Frameshift
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
MRPL22ENSG00000082515ENST00000523037p.K44Kc.132A>GSubstitution - coding silent
ABCG8ENSG00000143921ENST00000272286p.A623Tc.1867G>ASubstitution - Missense
STXBP4ENSG00000166263ENST00000376352p.Q241Pc.722A>CSubstitution - Missense
C1QL1ENSG00000131094ENST00000253407p.P60fs*96c.179delCDeletion - Frameshift
PDE6AENSG00000132915ENST00000255266p.L575Lc.1723C>TSubstitution - coding silent
SEMA4DENSG00000187764ENST00000450295p.G665Gc.1995T>CSubstitution - coding silent
PCSK5ENSG00000099139ENST00000376752p.I239Ic.717C>ASubstitution - coding silent
WHSC1ENSG00000109685ENST00000382891p.G232Sc.694G>ASubstitution - Missense
CYP4V2ENSG00000145476ENST00000378802p.V458Vc.1374G>ASubstitution - coding silent
FBN2ENSG00000138829ENST00000262464p.P2085fs*164c.6254delCDeletion - Frameshift
SOWAHAENSG00000198944ENST00000378693p.P164Pc.492G>ASubstitution - coding silent
QPCTENSG00000115828ENST00000338415p.V162Mc.484G>ASubstitution - Missense
ACLYENSG00000131473ENST00000352035p.?c.3135-4G>AUnknown
OGFRL1ENSG00000119900ENST00000370435p.I239fs*6c.715_716insAInsertion - Frameshift
SSBP4ENSG00000130511ENST00000270061p.?c.194+5G>AUnknown
SLC5A5ENSG00000105641ENST00000222248p.V205Vc.615C>ASubstitution - coding silent
P4HTMENSG00000178467ENST00000343546p.E321Ec.963G>ASubstitution - coding silent
SREK1ENSG00000153914ENST00000334121p.K457fs*11c.1367delADeletion - Frameshift
ENST00000438835p.V92Vc.276A>TSubstitution - coding silent
ZGLP1ENSG00000220201ENST00000403903p.A121Tc.361G>ASubstitution - Missense
ATXN2LENSG00000168488ENST00000395547p.G234fs*33c.696delGDeletion - Frameshift
TBC1D9ENSG00000109436ENST00000442267p.R629Cc.1885C>TSubstitution - Missense
FOXR2ENSG00000189299ENST00000339140p.F226Lc.676T>CSubstitution - Missense
EFCC1ENSG00000114654ENST00000480450p.?c.1660+9G>AUnknown
POLDIP3ENSG00000100227ENST00000252115p.Y236Cc.707A>GSubstitution - Missense
PEX6ENSG00000124587ENST00000304611p.V191Mc.571G>ASubstitution - Missense
DIS3L2ENSG00000144535ENST00000325385p.A690Vc.2069C>TSubstitution - Missense
COL4A4ENSG00000081052ENST00000396625p.D1253Vc.3758A>TSubstitution - Missense
ZNF142ENSG00000115568ENST00000411696p.R212Wc.634C>TSubstitution - Missense
ENST00000396788p.R49Wc.145C>TSubstitution - Missense
ATG9AENSG00000198925ENST00000396761p.R330Hc.989G>ASubstitution - Missense
MMEENSG00000196549ENST00000360490p.E585fs*96c.1753delGDeletion - Frameshift
TBC1D9BENSG00000197226ENST00000355235p.D1128Dc.3384C>TSubstitution - coding silent
CD300LFENSG00000186074ENST00000326165p.G24Sc.70G>ASubstitution - Missense
SCN5AENSG00000183873ENST00000333535p.Q641fs*3c.1921delCDeletion - Frameshift
TRANK1ENSG00000168016ENST00000428977p.A1100Dc.3299C>ASubstitution - Missense
MED12LENSG00000144893ENST00000474524p.R1721Hc.5162G>ASubstitution - Missense
CES2ENSG00000172831ENST00000317091p.P21Pc.63G>ASubstitution - coding silent
WDFY3ENSG00000163625ENST00000295888p.Q2078Pc.6233A>CSubstitution - Missense
FNTAENSG00000168522ENST00000302279p.N233Nc.699T>CSubstitution - coding silent
CXorf38ENSG00000185753ENST00000327877p.L246Lc.738A>GSubstitution - coding silent
FRAS1ENSG00000138759ENST00000264895p.R2781Hc.8342G>ASubstitution - Missense
RBBP8NLENSG00000130701ENST00000252998p.P600Pc.1800T>CSubstitution - coding silent
PRR14LENSG00000183530ENST00000327423p.I1382fs*44c.4143delGDeletion - Frameshift
TCFL5ENSG00000101190ENST00000217162p.G318Gc.954C>TSubstitution - coding silent
SYTL2ENSG00000137501ENST00000316356p.R665Hc.1994G>ASubstitution - Missense
OR4N4ENSG00000183706ENST00000328795p.G152fs*47c.451delGDeletion - Frameshift
CACNA1CENSG00000151067ENST00000399617p.N904Nc.2712C>TSubstitution - coding silent
THBS3ENSG00000169231ENST00000368378p.?c.2074+10C>TUnknown
STRIP1ENSG00000143093ENST00000369795p.V270Ac.809T>CSubstitution - Missense
MOV10ENSG00000155363ENST00000357443p.S582Sc.1746C>TSubstitution - coding silent
PRMT6ENSG00000198890ENST00000370078p.E302Vc.905A>TSubstitution - Missense
DEPDC7ENSG00000121690ENST00000311388p.K45fs*6c.130delADeletion - Frameshift
SYNMENSG00000182253ENST00000336292p.E1334Gc.4001A>GSubstitution - Missense
ANO4ENSG00000151572ENST00000392979p.A330Ac.990C>GSubstitution - coding silent
ARHGEF16ENSG00000130762ENST00000413250p.R112Wc.334C>TSubstitution - Missense
ZNF365ENSG00000138311ENST00000395255p.R216Wc.646C>TSubstitution - Missense
GAL3ST3ENSG00000175229ENST00000312006p.L180Lc.540C>TSubstitution - coding silent
KIF26BENSG00000162849ENST00000407071p.S1249Sc.3747C>TSubstitution - coding silent
CTBP2ENSG00000175029ENST00000309035p.R544Hc.1631G>ASubstitution - Missense
RNF31ENSG00000092098ENST00000324103p.Y863Hc.2587T>CSubstitution - Missense
RPS6KB2ENSG00000175634ENST00000312629p.?c.616+4C>TUnknown
BEST1ENSG00000167995ENST00000449131p.A425Ac.1275G>ASubstitution - coding silent
SHMT2ENSG00000182199ENST00000328923p.S404Cc.1211C>GSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.I3154Tc.9461T>CSubstitution - Missense
ABCC9ENSG00000069431ENST00000261200p.S1235Yc.3704C>ASubstitution - Missense
ENST00000412131p.P689fs*46c.2061delCDeletion - Frameshift
ZMIZ1ENSG00000108175ENST00000334512p.V464Vc.1392C>TSubstitution - coding silent
COL11A1ENSG00000060718ENST00000370096p.?c.4608+6T>CUnknown
DOCK9ENSG00000088387ENST00000376460p.S695Sc.2085C>TSubstitution - coding silent
EPRSENSG00000136628ENST00000366923p.I30Vc.88A>GSubstitution - Missense
NEK2ENSG00000117650ENST00000366999p.V379Ac.1136T>CSubstitution - Missense
ARHGAP22ENSG00000128805ENST00000249601p.S682fs*3c.2044delTDeletion - Frameshift
EIF4A3ENSG00000141543ENST00000269349p.R387Hc.1160G>ASubstitution - Missense
ARHGAP22ENSG00000128805ENST00000417912p.S698fs*3c.2092delTDeletion - Frameshift
ENST00000377560_v62p.I560Ic.1680C>ASubstitution - coding silent
KLF5ENSG00000102554ENST00000377687p.A449Tc.1345G>ASubstitution - Missense
SYTL1ENSG00000142765ENST00000543823p.T516Tc.1548C>TSubstitution - coding silent
NM_016231p.F180fs*30c.534delTDeletion - Frameshift
ESF1ENSG00000089048ENST00000202816p.T99fs*12c.295delADeletion - Frameshift
CACNA1DENSG00000157388ENST00000288139p.M10fs*60c.22delADeletion - Frameshift
RABGAP1ENSG00000011454ENST00000373647p.N930fs*15c.2782delADeletion - Frameshift
R3HDM2ENSG00000179912ENST00000347140p.K20fs*7c.60delADeletion - Frameshift
USP35ENSG00000118369ENST00000529308p.T655fs*23c.1955delCDeletion - Frameshift
WASF3ENSG00000132970ENST00000335327p.P307fs*28c.913delCDeletion - Frameshift
DAXXENSG00000204209ENST00000266000p.R633Wc.1897C>TSubstitution - Missense
NM_006312.2p.R1264Hc.3791G>ASubstitution - Missense
TRPS1ENSG00000104447ENST00000395715p.R624*c.1870C>TSubstitution - Nonsense
TRPS1ENSG00000104447ENST00000395715p.R624*c.1870C>TSubstitution - Nonsense
GALNT2ENSG00000143641ENST00000366672p.R194*c.580C>TSubstitution - Nonsense
NR0B1ENSG00000169297ENST00000453287p.F364Vc.1090T>GSubstitution - Missense
ENST00000534231p.R226Hc.677G>ASubstitution - Missense
NLRP3ENSG00000162711ENST00000391828p.A873Tc.2617G>ASubstitution - Missense
MTHFD1ENSG00000100714ENST00000555709p.A643Tc.1927G>ASubstitution - Missense
USP6ENSG00000129204ENST00000304328p.?c.3096+2T>CUnknown
AKAP1ENSG00000121057ENST00000314126p.A280Vc.839C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.K1714Rc.5141A>GSubstitution - Missense
TIAM2ENSG00000146426ENST00000456144p.R236Qc.707G>ASubstitution - Missense
RALGDSENSG00000160271ENST00000393157p.F591Yc.1772T>ASubstitution - Missense
HRH3ENSG00000101180ENST00000317393p.R99Hc.296G>ASubstitution - Missense
DOCK10ENSG00000135905ENST00000409592p.K582Nc.1746G>TSubstitution - Missense
CLASP1ENSG00000074054ENST00000397587p.A1220Tc.3658G>ASubstitution - Missense
PLEKHG5ENSG00000171680ENST00000537245p.N39Sc.116A>GSubstitution - Missense
CLEC16AENSG00000038532ENST00000409552p.S448Sc.1344C>TSubstitution - coding silent
PRMT1ENSG00000126457ENST00000454376p.V177Mc.529G>ASubstitution - Missense
SLC26A6ENSG00000225697ENST00000383733p.?c.1529+9G>AUnknown
SLMAPENSG00000163681ENST00000383718p.L129fs*58c.380delTDeletion - Frameshift
EML3ENSG00000149499ENST00000529309p.?c.1656+8C>TUnknown
RASSF7ENSG00000099849ENST00000431809p.A36Tc.106G>ASubstitution - Missense
NCANENSG00000130287ENST00000252575p.T30Tc.90C>TSubstitution - coding silent
COL7A1ENSG00000114270ENST00000328333p.?c.5307+7G>AUnknown
PPP6R2ENSG00000100239ENST00000359139p.A241Ac.723G>ASubstitution - coding silent
KIF9ENSG00000088727ENST00000265529p.R118Hc.353G>ASubstitution - Missense
IQGAP2ENSG00000145703ENST00000274364p.N141fs*5c.418delADeletion - Frameshift
PCDH19ENSG00000165194ENST00000373034p.R181Rc.543C>TSubstitution - coding silent
SETD1AENSG00000099381ENST00000262519p.P721Pc.2163G>ASubstitution - coding silent
FEM1AENSG00000141965ENST00000269856p.D310Yc.928G>TSubstitution - Missense
EML2ENSG00000125746ENST00000245925p.G313fs*81c.938delGDeletion - Frameshift
TBC1D10BENSG00000169221ENST00000409939p.A198Tc.592G>ASubstitution - Missense
SRRM2ENSG00000167978ENST00000301740p.I5Ic.15C>TSubstitution - coding silent
ZNF100ENSG00000197020ENST00000358296p.A437Dc.1310C>ASubstitution - Missense
SIDT1ENSG00000072858ENST00000264852p.T450Ac.1348A>GSubstitution - Missense
BTLAENSG00000186265ENST00000334529p.G163*c.487G>TSubstitution - Nonsense
TYW1ENSG00000198874ENST00000359626p.?c.1102+7A>GUnknown
SUN1ENSG00000164828ENST00000389574p.F274Lc.820T>CSubstitution - Missense
FLNAENSG00000196924ENST00000369850p.V552Ic.1654G>ASubstitution - Missense
GLI2ENSG00000074047ENST00000361492p.A232Vc.695C>TSubstitution - Missense
EDC4ENSG00000038358ENST00000358933p.A577Vc.1730C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.K1651Rc.4952A>GSubstitution - Missense
ZNF544ENSG00000198131ENST00000269829p.P547Pc.1641G>ASubstitution - coding silent
ENST00000316893p.V93Mc.277G>ASubstitution - Missense
CMBLENSG00000164237ENST00000296658p.V152fs*16c.454delGDeletion - Frameshift
FILIP1LENSG00000168386ENST00000354552p.M98fs*19c.292delADeletion - Frameshift
SLC51AENSG00000163959ENST00000296327p.L225Hc.674T>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.Q4288Lc.12863A>TSubstitution - Missense
RARBENSG00000077092ENST00000404969p.R126Qc.377G>ASubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.E600Dc.1800G>TSubstitution - Missense
TRIM54ENSG00000138100ENST00000296098p.E339Kc.1015G>ASubstitution - Missense
C20orf195ENSG00000125531ENST00000370097p.T301Tc.903C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T3739Ic.11216C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.K8986Rc.26957A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.K19388Kc.58164A>GSubstitution - coding silent
NM_003319p.K12891Kc.38673A>GSubstitution - coding silent
NBEAL1ENSG00000144426ENST00000449802p.I790Tc.2369T>CSubstitution - Missense
DNMT3AENSG00000119772ENST00000380746p.Y719Hc.2155T>CSubstitution - Missense
ATP2A3ENSG00000074370ENST00000359983p.P571fs*21c.1712delCDeletion - Frameshift
DNAH1ENSG00000114841ENST00000420323p.I3969Ic.11907C>ASubstitution - coding silent
NM_022740p.E243fs*16c.727_728insACCTInsertion - Frameshift
CYP11B1ENSG00000160882ENST00000292427p.R404Cc.1210C>TSubstitution - Missense
ADAMTS3ENSG00000156140ENST00000286657p.C516fs*145c.1546delTDeletion - Frameshift
DSC3ENSG00000134762ENST00000360428p.F25Vc.73T>GSubstitution - Missense
NOL4ENSG00000101746ENST00000261592p.D370Gc.1109A>GSubstitution - Missense
RNF213ENSG00000173821ENST00000456466p.D516Dc.1548C>TSubstitution - coding silent
LGI3ENSG00000168481ENST00000306317p.R157Gc.469C>GSubstitution - Missense
CEP95ENSG00000258890ENST00000556440p.S234Pc.700T>CSubstitution - Missense
OAZ1ENSG00000104904ENST00000322297p.?c.548-8C>AUnknown
PHACTR3ENSG00000087495ENST00000371015p.R515Mc.1544G>TSubstitution - Missense
GDF7ENSG00000143869ENST00000272224p.G345fs*>106c.1031delGDeletion - Frameshift
UNC80ENSG00000144406ENST00000439458p.K1896fs*2c.5684delADeletion - Frameshift
FRMD7ENSG00000165694ENST00000298542p.S655*c.1964C>ASubstitution - Nonsense
AZU1ENSG00000172232ENST00000233997p.V170Ic.508G>ASubstitution - Missense
GUCY2FENSG00000101890ENST00000218006p.P555Sc.1663C>TSubstitution - Missense
PRKACBENSG00000142875ENST00000370685p.R192Wc.574C>TSubstitution - Missense
PRKACBENSG00000142875ENST00000370685p.T348Tc.1044A>GSubstitution - coding silent
PCSK2ENSG00000125851ENST00000262545p.M455fs*33c.1360delADeletion - Frameshift
ARHGAP27ENSG00000159314ENST00000376922p.?c.820-4C>TUnknown
DYNC1H1ENSG00000197102ENST00000360184p.G535Gc.1605A>GSubstitution - coding silent
THAP3ENSG00000041988ENST00000054650p.E32Ec.96G>ASubstitution - coding silent
PCSK6ENSG00000140479ENST00000348070p.G619Vc.1856G>TSubstitution - Missense
FYBENSG00000082074ENST00000351578p.P325Tc.973C>ASubstitution - Missense
HCAR2ENSG00000182782ENST00000328880p.G172Gc.516C>TSubstitution - coding silent
HCAR3ENSG00000255398ENST00000528880p.S326Nc.977G>ASubstitution - Missense
RNF111ENSG00000157450ENST00000434298p.A525Ac.1575T>CSubstitution - coding silent
PTPRUENSG00000060656ENST00000345512p.P621Sc.1861C>TSubstitution - Missense
STX3ENSG00000166900ENST00000337979p.A253fs*>38c.750_751insAInsertion - Frameshift
INF2ENSG00000203485ENST00000392634p.S1118Sc.3354C>TSubstitution - coding silent
NALCNENSG00000102452ENST00000251127p.L1019fs*7c.3056delTDeletion - Frameshift
ENST00000279593p.K473Rc.1418A>GSubstitution - Missense
SCN8AENSG00000196876ENST00000354534p.V1392Mc.4174G>ASubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.P932Pc.2796A>GSubstitution - coding silent
ABCC9ENSG00000069431ENST00000261201p.T1257Mc.3770C>TSubstitution - Missense
EP400ENSG00000183495ENST00000389561p.L2877fs*106c.8630_8631insTInsertion - Frameshift
RHEBL1ENSG00000167550ENST00000301068p.?c.52+3G>AUnknown
FANCIENSG00000140525ENST00000300027p.L772Vc.2314C>GSubstitution - Missense
LIPJENSG00000204022ENST00000371939p.C224Cc.672C>TSubstitution - coding silent
SMARCC2ENSG00000139613ENST00000267064p.G1044fs*18c.3120_3121insCCInsertion - Frameshift
RNASEH2BENSG00000136104ENST00000336617p.P255Ac.763C>GSubstitution - Missense
LMO7ENSG00000136153ENST00000341547p.S657Pc.1969T>CSubstitution - Missense
MYCBP2ENSG00000005810ENST00000357337p.S4350Sc.13050T>CSubstitution - coding silent
CELSR1ENSG00000075275ENST00000262738p.G614fs*54c.1841delGDeletion - Frameshift
SHPRHENSG00000146414ENST00000438092p.G458fs*26c.1371delADeletion - Frameshift
IRAK3ENSG00000090376ENST00000261233p.M200fs*26c.592delADeletion - Frameshift
ZNF688ENSG00000229809ENST00000395219p.P100Lc.299C>TSubstitution - Missense
NM_032227.1p.V148Ac.443T>CSubstitution - Missense
PGBD5ENSG00000177614ENST00000321327p.G258Rc.772G>ASubstitution - Missense
MAP3K15ENSG00000180815ENST00000338883p.R293Hc.878G>ASubstitution - Missense
POMT1ENSG00000130714ENST00000354713p.I622Ic.1866C>TSubstitution - coding silent
KIAA0368ENSG00000136813ENST00000338205p.?c.4177+1G>TUnknown
SUN2ENSG00000100242ENST00000411587p.G534Rc.1600G>ASubstitution - Missense
PDE4AENSG00000065989ENST00000380702p.V304Ac.911T>CSubstitution - Missense
SDK2ENSG00000069188ENST00000392650p.V93Mc.277G>ASubstitution - Missense
GNL1ENSG00000204590ENST00000433809p.D152Ec.456C>ASubstitution - Missense
FSTENSG00000134363ENST00000396947p.N82Nc.246C>TSubstitution - coding silent
NT5DC2ENSG00000168268ENST00000422318p.D552Dc.1656C>TSubstitution - coding silent
C16orf45ENSG00000166780ENST00000452191p.T89fs*11c.260delADeletion - Frameshift
LSM14BENSG00000149657ENST00000253001p.A297Ac.891C>TSubstitution - coding silent
NIPAL3ENSG00000001461ENST00000339255p.Y243Hc.727T>CSubstitution - Missense
MORN1ENSG00000116151ENST00000449373p.S111Sc.333C>TSubstitution - coding silent
RAP1GAPENSG00000076864ENST00000542643p.A310Tc.928G>ASubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.I1609Kc.4826T>ASubstitution - Missense
RNGTTENSG00000111880ENST00000369475p.R132Hc.395G>ASubstitution - Missense
NBEAENSG00000172915ENST00000400445p.E2539Gc.7616A>GSubstitution - Missense
N4BP3ENSG00000145911ENST00000274605p.E256Kc.766G>ASubstitution - Missense
ENST00000342610p.V122Ac.365T>CSubstitution - Missense
CCNFENSG00000162063ENST00000397066p.S653Ac.1957T>GSubstitution - Missense
SLITRK2ENSG00000185985ENST00000447897p.L430Lc.1288C>TSubstitution - coding silent
SMARCB1ENSG00000099956ENST00000263121p.?c.363-6C>TUnknown
PCDHA1ENSG00000204970ENST00000378133p.R151Rc.453T>GSubstitution - coding silent
PCDHA1ENSG00000204970ENST00000504120p.A166Tc.496G>ASubstitution - Missense
PLXNB3ENSG00000198753ENST00000361971p.?c.1630-6T>AUnknown
DNAH5ENSG00000039139ENST00000265104p.I1665Ic.4995C>ASubstitution - coding silent
FOXK1ENSG00000164916ENST00000328914p.R430Cc.1288C>TSubstitution - Missense
BCHEENSG00000114200ENST00000264381p.P74Pc.222A>GSubstitution - coding silent
ENSG00000272333ENST00000222270p.R924Qc.2771G>ASubstitution - Missense
FNDC3BENSG00000075420ENST00000336824p.E47Gc.140A>GSubstitution - Missense
RNGTTENSG00000111880ENST00000369485p.R132Hc.395G>ASubstitution - Missense
COL12A1ENSG00000111799ENST00000322507p.S1178Sc.3534C>ASubstitution - coding silent
ASIC2ENSG00000108684ENST00000225823p.R419Cc.1255C>TSubstitution - Missense
ASIC2ENSG00000108684ENST00000359872p.R368Cc.1102C>TSubstitution - Missense
PCDHA7ENSG00000204963ENST00000525929p.A49Ac.147G>ASubstitution - coding silent
PCSK5ENSG00000099139ENST00000545128p.?c.4259-8G>AUnknown
RXRAENSG00000186350ENST00000481739p.G329Rc.985G>ASubstitution - Missense
PCSK5ENSG00000099139ENST00000376767p.K110fs*41c.324delADeletion - Frameshift
PPARGC1AENSG00000109819ENST00000264867p.?c.2142-8C>TUnknown
NM_016340.2p.E481Kc.1441G>ASubstitution - Missense
NMT1ENSG00000136448ENST00000258960p.R322Cc.964C>TSubstitution - Missense
PLEKHH2ENSG00000152527ENST00000282406p.S93Sc.279G>ASubstitution - coding silent
UFD1LENSG00000070010ENST00000263202p.T21Ac.61A>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.K13083Kc.39249A>GSubstitution - coding silent
ENST00000304488p.L52Vc.154C>GSubstitution - Missense
ZNF528ENSG00000167555ENST00000360465p.P147Pc.441G>ASubstitution - coding silent
PTPRSENSG00000105426ENST00000357368p.G976fs*25c.2927delGDeletion - Frameshift
ENST00000356127p.Y23851Cc.71552A>GSubstitution - Missense
MTX2ENSG00000128654ENST00000249442p.H97Rc.290A>GSubstitution - Missense
IFNAR2ENSG00000159110ENST00000404220p.S259fs*17c.775_776insAInsertion - Frameshift
MST1RENSG00000164078ENST00000296474p.Q555*c.1663C>TSubstitution - Nonsense
HIST1H4EENSG00000198518ENST00000360441p.D86Gc.257A>GSubstitution - Missense
SMURF1ENSG00000198742ENST00000361125p.R266fs*28c.795_796insCInsertion - Frameshift
ZNF707ENSG00000181135ENST00000532205p.G347Sc.1039G>ASubstitution - Missense
ACEENSG00000159640ENST00000490216p.P529fs*69c.1581delCDeletion - Frameshift
ZNF563ENSG00000188868ENST00000293725p.I385Lc.1153A>TSubstitution - Missense
ENST00000411702p.D565Dc.1695C>TSubstitution - coding silent
VAMP2ENSG00000220205ENST00000316509p.P10fs*37c.29delCDeletion - Frameshift
GNA11ENSG00000088256ENST00000078429p.R210Wc.628C>TSubstitution - Missense
MYO15AENSG00000091536ENST00000205890p.?c.7787+5G>AUnknown
WNK2ENSG00000165238ENST00000297954p.A2212Tc.6634G>ASubstitution - Missense
DNAH2ENSG00000183914ENST00000389173p.G2764Rc.8290G>ASubstitution - Missense
NAPSAENSG00000131400ENST00000253719p.V376Ic.1126G>ASubstitution - Missense
GOSR2ENSG00000108433ENST00000415811p.R47Cc.139C>TSubstitution - Missense
WDR18ENSG00000065268ENST00000251289p.P322Pc.966C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.L1705Pc.5114T>CSubstitution - Missense
TNS1ENSG00000079308ENST00000171887p.T357Tc.1071G>ASubstitution - coding silent
ENST00000359590p.T428Mc.1283C>TSubstitution - Missense
SLC25A41ENSG00000181240ENST00000321510p.A53Vc.158C>TSubstitution - Missense
LIG4ENSG00000174405ENST00000405925p.K30Ec.88A>GSubstitution - Missense
SPNS3ENSG00000182557ENST00000355530p.V183Ic.547G>ASubstitution - Missense
SPTBENSG00000070182ENST00000542895p.A705Vc.2114C>TSubstitution - Missense
ZC3H14ENSG00000100722ENST00000251038p.?c.1514+9T>CUnknown
RPS6KA5ENSG00000100784ENST00000261991p.V225Ic.673G>ASubstitution - Missense
MLKLENSG00000168404ENST00000308807p.S83Ac.247T>GSubstitution - Missense
EIF2AK4ENSG00000128829ENST00000263791p.T791Mc.2372C>TSubstitution - Missense
TPTE2ENSG00000132958ENST00000390680p.K11Ec.31A>GSubstitution - Missense
CACNA1CENSG00000151067ENST00000399634p.R1656Cc.4966C>TSubstitution - Missense
SOX5ENSG00000134532ENST00000451604p.A426Tc.1276G>ASubstitution - Missense
NPAS3ENSG00000151322ENST00000356141p.S621Sc.1863G>ASubstitution - coding silent
SLC12A1ENSG00000074803ENST00000396577p.L739Fc.2215C>TSubstitution - Missense
MAST2ENSG00000086015ENST00000361297p.L1726Lc.5178A>GSubstitution - coding silent
ENST00000331826_v68p.?c.916+4C>TUnknown
SYNE3ENSG00000176438ENST00000334258p.N615Sc.1844A>GSubstitution - Missense
TLN2ENSG00000171914ENST00000306829p.P2381Hc.7142C>ASubstitution - Missense
AXDND1ENSG00000162779ENST00000367618p.L488Rc.1463T>GSubstitution - Missense
NCOR2ENSG00000196498ENST00000405201p.Q508_Q510delQQQc.1523_1531delAGCAGCAGCDeletion - In frame
KIAA1731ENSG00000166004ENST00000325212p.Q1629Ec.4885C>GSubstitution - Missense
TRIM49CENSG00000204449ENST00000448984p.V80Ac.239T>CSubstitution - Missense
TNNT2ENSG00000118194ENST00000458432p.?c.717-6G>AUnknown
MNS1ENSG00000138587ENST00000260453p.N33fs*50c.98delADeletion - Frameshift
DCAF4ENSG00000119599ENST00000358377p.R273Wc.817C>TSubstitution - Missense
SLC25A24ENSG00000085491ENST00000370041p.S230Sc.690G>ASubstitution - coding silent
PIAS3ENSG00000131788ENST00000393045p.S510Sc.1530T>CSubstitution - coding silent
TFAMENSG00000108064ENST00000487519p.R159Hc.476G>ASubstitution - Missense
USP47ENSG00000170242ENST00000339865p.T518Ac.1552A>GSubstitution - Missense
ABTB2ENSG00000166016ENST00000435224p.T500Tc.1500G>ASubstitution - coding silent
TAS1R3ENSG00000169962ENST00000339381p.P91Lc.272C>TSubstitution - Missense
CLIP1ENSG00000130779ENST00000358808p.T1039Mc.3116C>TSubstitution - Missense
HNF1AENSG00000135100ENST00000257555p.E88Ec.264G>ASubstitution - coding silent
TTLL13ENSG00000213471ENST00000438251p.T397fs*7c.1185_1186insTInsertion - Frameshift
PAPLNENSG00000100767ENST00000427855p.R1123*c.3367C>TSubstitution - Nonsense
PDS5BENSG00000083642ENST00000315596p.P16Lc.47C>TSubstitution - Missense
UBE3AENSG00000114062ENST00000397954p.Q576fs*19c.1725_1726insTInsertion - Frameshift
EIF3AENSG00000107581ENST00000369144p.E350Kc.1048G>ASubstitution - Missense
GOLGA8IENSG00000153666ENST00000450802p.E345Ec.1035G>ASubstitution - coding silent
CPNE6ENSG00000100884ENST00000537691p.F136fs*49c.402delTDeletion - Frameshift
SH3BP2ENSG00000087266ENST00000503393p.R569Hc.1706G>ASubstitution - Missense
ICOSLGENSG00000160223ENST00000344330p.A27Vc.80C>TSubstitution - Missense
RAI1ENSG00000108557ENST00000261641p.D1132Yc.3394G>TSubstitution - Missense
NEK8ENSG00000160602ENST00000268766p.?c.253+6C>AUnknown
FAM86B1ENSG00000186523ENST00000321602p.E256Kc.766G>ASubstitution - Missense
CAPN3ENSG00000092529ENST00000318023p.R437Cc.1309C>TSubstitution - Missense
ARHGAP35ENSG00000160007ENST00000404338p.T409Ac.1225A>GSubstitution - Missense
CORO1BENSG00000172725ENST00000453768p.I137Tc.410T>CSubstitution - Missense
ENST00000457912_v65p.R454Rc.1360C>ASubstitution - coding silent
AKNAENSG00000106948ENST00000307564p.G867Dc.2600G>ASubstitution - Missense
PTK2ENSG00000169398ENST00000340930p.P208fs*13c.621delTDeletion - Frameshift
DENND3ENSG00000105339ENST00000262585p.N575Nc.1725C>TSubstitution - coding silent
MLST8ENSG00000167965ENST00000301724p.R117Qc.350G>ASubstitution - Missense
ABHD8ENSG00000127220ENST00000247706p.P266Sc.796C>TSubstitution - Missense
SLC5A11ENSG00000158865ENST00000347898p.Y521Cc.1562A>GSubstitution - Missense
PGLYRP2ENSG00000161031ENST00000292609p.V111Vc.333G>CSubstitution - coding silent
RNF180ENSG00000164197ENST00000389100p.T304Tc.912A>GSubstitution - coding silent
DPP6ENSG00000130226ENST00000332007p.?c.2060-5T>CUnknown
ARHGEF1ENSG00000076928ENST00000337665p.K105Rc.314A>GSubstitution - Missense
ZNF780AENSG00000197782ENST00000455521p.G542Gc.1626T>CSubstitution - coding silent
BMPERENSG00000164619ENST00000297161p.R144Cc.430C>TSubstitution - Missense
TMEM176AENSG00000002933ENST00000004103p.D139Yc.415G>TSubstitution - Missense
FUKENSG00000157353ENST00000378912p.A326Vc.977C>TSubstitution - Missense
C7orf65ENSG00000221845ENST00000408988p.A56Tc.166G>ASubstitution - Missense
SOX7ENSG00000171056ENST00000304501p.V268_G276delVSMMSPVPGc.802_828del27Deletion - In frame
PCDHGC4ENSG00000242419ENST00000306593p.E144Dc.432G>TSubstitution - Missense
CD22ENSG00000012124ENST00000085219p.L742fs*14c.2219delCDeletion - Frameshift
FNDC8ENSG00000073598ENST00000158009p.?c.585+10C>AUnknown
FILIP1ENSG00000118407ENST00000237172p.V506Mc.1516G>ASubstitution - Missense
NM_023038.2p.?c.1912-3C>TUnknown
TEX14ENSG00000121101ENST00000349033p.?c.136+10A>GUnknown
PTPRDENSG00000153707ENST00000381196p.D1208Dc.3624C>TSubstitution - coding silent
PTPRDENSG00000153707ENST00000355233p.D797Dc.2391C>TSubstitution - coding silent
SPATA31D1ENSG00000214929ENST00000344803p.P1092Pc.3276G>ASubstitution - coding silent
FXR1ENSG00000114416ENST00000357559p.D186Gc.557A>GSubstitution - Missense
ATP9BENSG00000166377ENST00000307671p.T908Mc.2723C>TSubstitution - Missense
OGFRL1ENSG00000119900ENST00000370435p.E372*c.1114G>TSubstitution - Nonsense
NDOR1ENSG00000188566ENST00000371521p.H113Yc.337C>TSubstitution - Missense
NDOR1ENSG00000188566ENST00000371521p.Q118*c.352C>TSubstitution - Nonsense
MVPENSG00000013364ENST00000395353p.P12Tc.34C>ASubstitution - Missense
RNF40ENSG00000103549ENST00000324685p.R646Qc.1937G>ASubstitution - Missense
GK5ENSG00000175066ENST00000392993p.S401Sc.1203T>CSubstitution - coding silent
C3orf17ENSG00000163608ENST00000314400p.R148Gc.442C>GSubstitution - Missense
ZNF689ENSG00000156853ENST00000287461p.I490Tc.1469T>CSubstitution - Missense
MMP25ENSG00000008516ENST00000336577p.A177Tc.529G>ASubstitution - Missense
ENST00000373702p.T512Mc.1535C>TSubstitution - Missense
ENST00000358511_v70p.M177Ic.531G>TSubstitution - Missense
COL6A6ENSG00000206384ENST00000358511p.A336Ac.1008C>TSubstitution - coding silent
BTNL9ENSG00000165810ENST00000327705p.M24Ic.72G>ASubstitution - Missense
IGF2RENSG00000197081ENST00000356956p.D1317fs*5c.3949_3950insGInsertion - Frameshift
PDLIM5ENSG00000163110ENST00000317968p.C446Cc.1338C>TSubstitution - coding silent
DCP2ENSG00000172795ENST00000389063p.H292fs*20c.876delCDeletion - Frameshift
EIF2AENSG00000144895ENST00000487799p.S166Cc.496A>TSubstitution - Missense
PIGQENSG00000007541ENST00000321878p.T110Sc.329C>GSubstitution - Missense
ADD2ENSG00000075340ENST00000430656p.T419Mc.1256C>TSubstitution - Missense
KIAA0226ENSG00000145016ENST00000296343p.R735*c.2203C>TSubstitution - Nonsense
C2orf16ENSG00000221843ENST00000408964p.T87Pc.259A>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T2191Ic.6572C>TSubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.P539Sc.1615C>TSubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.E672Dc.2016G>TSubstitution - Missense
FUT5ENSG00000130383ENST00000252675p.T82Ac.244A>GSubstitution - Missense
C16orf90ENSG00000215131ENST00000399645p.S50Sc.150C>TSubstitution - coding silent
BIRC6ENSG00000115760ENST00000421745p.E3273Kc.9817G>ASubstitution - Missense
TSHRENSG00000165409ENST00000554435p.E35Ac.104A>CSubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.V865Ic.2593G>ASubstitution - Missense
LAX1ENSG00000122188ENST00000367217p.R51*c.151C>TSubstitution - Nonsense
MYO3AENSG00000095777ENST00000265944p.D89Gc.266A>GSubstitution - Missense
NBPF10ENSG00000163386ENST00000342960p.?c.10419-1G>AUnknown
TROVE2ENSG00000116747ENST00000367444p.?c.1087-5T>CUnknown
CASZ1ENSG00000130940ENST00000377022p.A984Ac.2952G>ASubstitution - coding silent
SCGB1C1ENSG00000188076ENST00000342878p.Y53*c.159C>GSubstitution - Nonsense
HIP1RENSG00000130787ENST00000253083p.T443Mc.1328C>TSubstitution - Missense
SU_SK473p.T55Mc.164C>TSubstitution - Missense
ENST00000312105p.?c.949+8G>AUnknown
PUSL1ENSG00000169972ENST00000379031p.A250Vc.749C>TSubstitution - Missense
ZNF687ENSG00000143373ENST00000324048p.V571Vc.1713C>ASubstitution - coding silent
NADKENSG00000008130ENST00000342348p.A222Vc.665C>TSubstitution - Missense
ACAP3ENSG00000131584ENST00000354700p.?c.1407+6T>CUnknown
KIAA1211LENSG00000196872ENST00000397899p.A890Tc.2668G>ASubstitution - Missense
FAM160B1ENSG00000151553ENST00000369250p.S323Pc.967T>CSubstitution - Missense
ENO4ENSG00000188316ENST00000341276p.Y587fs*31c.1752delTDeletion - Frameshift
MUC19ENSG00000205592ENST00000425730p.K52fs*126c.148delADeletion - Frameshift
EIF3IENSG00000084623ENST00000373586p.P3Pc.9G>ASubstitution - coding silent
CHD8ENSG00000100888ENST00000430710p.?c.6229-7A>GUnknown
BEST1ENSG00000167995ENST00000378043p.A485Ac.1455G>ASubstitution - coding silent
CEP170ENSG00000143702ENST00000366542p.R1267Hc.3800G>ASubstitution - Missense
CHUKENSG00000213341ENST00000370397p.C696Rc.2086T>CSubstitution - Missense
EIF3AENSG00000107581ENST00000369144p.?c.2197-4G>AUnknown
PNRC2ENSG00000189266ENST00000334351p.S18fs*18c.49_52delGTTADeletion - Frameshift
UCP3ENSG00000175564ENST00000314032p.P237fs*5c.710delCDeletion - Frameshift
NM_172217.1p.S758Lc.2273C>TSubstitution - Missense
EBF3ENSG00000108001ENST00000368648p.R333Sc.997C>ASubstitution - Missense
ARHGEF40ENSG00000165801ENST00000298694p.V620fs*5c.1852delCDeletion - Frameshift
ARHGEF40ENSG00000165801ENST00000298694p.R870Qc.2609G>ASubstitution - Missense
RNF31ENSG00000092098ENST00000324103p.D639Dc.1917C>TSubstitution - coding silent
GLRX3ENSG00000108010ENST00000331244p.C146fs*28c.430_431insCInsertion - Frameshift
NAV3ENSG00000067798ENST00000397909p.H36Yc.106C>TSubstitution - Missense
SCN8AENSG00000196876ENST00000354534p.A1017Tc.3049G>ASubstitution - Missense
LDB3ENSG00000122367ENST00000429277p.G54Gc.162C>TSubstitution - coding silent
MSANTD2ENSG00000120458ENST00000374979p.E237*c.709G>TSubstitution - Nonsense
SFRP5ENSG00000120057ENST00000266066p.T104Tc.312G>ASubstitution - coding silent
FARP1ENSG00000152767ENST00000376586p.V816Ic.2446G>ASubstitution - Missense
ENST00000336239p.G482fs*44c.1445delGDeletion - Frameshift
XM_048898.8p.A801Ac.2403G>ASubstitution - coding silent
MARCH9ENSG00000139266ENST00000266643p.Y224Yc.672C>TSubstitution - coding silent
MAGED1ENSG00000179222ENST00000375695p.R632Hc.1895G>ASubstitution - Missense
VCANENSG00000038427ENST00000265077p.C294Cc.882C>TSubstitution - coding silent
CCDC178ENSG00000166960ENST00000383096p.N865Nc.2595C>TSubstitution - coding silent
RHPN1ENSG00000158106ENST00000289013p.C30Cc.90C>TSubstitution - coding silent
EYSENSG00000188107ENST00000370621p.R1055Mc.3164G>TSubstitution - Missense
SFMBT2ENSG00000198879ENST00000361972p.A126Tc.376G>ASubstitution - Missense
NRCAMENSG00000091129ENST00000379028p.R129Hc.386G>ASubstitution - Missense
CBFBENSG00000067955ENST00000412916p.R78*c.232C>TSubstitution - Nonsense
KANSL1LENSG00000144445ENST00000281772p.K937fs*42c.2810delADeletion - Frameshift
WBP1ENSG00000239779ENST00000233615p.H185fs*10c.552delTDeletion - Frameshift
FBXW7ENSG00000109670ENST00000281708p.R465Hc.1394G>ASubstitution - Missense
SIM1ENSG00000112246ENST00000262901p.A654Tc.1960G>ASubstitution - Missense
FOXN3ENSG00000053254ENST00000557258p.P96fs*42c.287delCDeletion - Frameshift
KDM4AENSG00000066135ENST00000372396p.A435Tc.1303G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.?c.4998+3A>GUnknown
ENST00000416621p.G32Sc.94G>ASubstitution - Missense
MIOXENSG00000100253ENST00000395733p.P215Hc.644C>ASubstitution - Missense
ENSG00000255622ENST00000539533p.R560Hc.1679G>ASubstitution - Missense
ENSG00000268863ENST00000602217p.P170fs*>72c.509_510delCTDeletion - Frameshift
TBC1D26ENSG00000214946ENST00000579428p.G108fs*8c.320delGDeletion - Frameshift
RGS12ENSG00000159788ENST00000338806p.E506Gc.1517A>GSubstitution - Missense
SLC45A4ENSG00000022567ENST00000517878p.I800fs*>9c.2398delADeletion - Frameshift
NDOR1ENSG00000188566ENST00000371521p.F262Fc.786C>TSubstitution - coding silent
ZKSCAN7ENSG00000196345ENST00000273320p.R739Qc.2216G>ASubstitution - Missense
RELNENSG00000189056ENST00000343529p.S566Tc.1696T>ASubstitution - Missense
MGAT5ENSG00000152127ENST00000281923p.C660Cc.1980C>TSubstitution - coding silent
NM_001184p.T2556Sc.7667C>GSubstitution - Missense
DOCK10ENSG00000135905ENST00000258390p.K588Nc.1764G>TSubstitution - Missense
CCDC88AENSG00000115355ENST00000263630p.Q1540Ec.4618C>GSubstitution - Missense
KIAA1257ENSG00000114656ENST00000265068p.T261fs*24c.781_782insAInsertion - Frameshift
C9orf141ENSG00000198454ENST00000371629p.G217Dc.650G>ASubstitution - Missense
GAB3ENSG00000160219ENST00000369575p.Q569Rc.1706A>GSubstitution - Missense
DDX53ENSG00000184735ENST00000327968p.R155Rc.465C>TSubstitution - coding silent
ICA1ENSG00000003147ENST00000402384p.P427Hc.1280C>ASubstitution - Missense
CHRNGENSG00000196811ENST00000389494p.D508Ec.1524T>ASubstitution - Missense
ENST00000233310p.R176*c.526C>TSubstitution - Nonsense
IL20RAENSG00000016402ENST00000316649p.P492Hc.1475C>ASubstitution - Missense
WDR13ENSG00000101940ENST00000376729p.T139Mc.416C>TSubstitution - Missense
RANBP2ENSG00000153201ENST00000283195p.R310*c.928C>TSubstitution - Nonsense
SLC22A14ENSG00000144671ENST00000273173p.S478Fc.1433C>TSubstitution - Missense
ANAPC1ENSG00000153107ENST00000341068p.?c.1450-10G>TUnknown
CTDSPLENSG00000144677ENST00000273179p.P67Lc.200C>TSubstitution - Missense
IL1RL2ENSG00000115598ENST00000441515p.K364Kc.1092G>ASubstitution - coding silent
SEPT10ENSG00000186522ENST00000397714p.R363fs*18c.1089_1092delAGAGDeletion - Frameshift
RETSATENSG00000042445ENST00000295802p.T466Tc.1398T>CSubstitution - coding silent
PRKDCENSG00000253729ENST00000314191p.E3638fs*14c.10911delADeletion - Frameshift
ZFP28ENSG00000196867ENST00000301318p.Y221Hc.661T>CSubstitution - Missense
PRR14LENSG00000183530ENST00000330495p.C61Cc.183C>TSubstitution - coding silent
COL20A1ENSG00000101203ENST00000326996p.L342fs*44c.1023delCDeletion - Frameshift
CACNG7ENSG00000105605ENST00000391767p.E88Kc.262G>ASubstitution - Missense
COL8A1ENSG00000144810ENST00000273342p.P628Pc.1884G>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.K13016Kc.39048A>GSubstitution - coding silent
ZNF267ENSG00000185947ENST00000300870p.E35Gc.104A>GSubstitution - Missense
EPG5ENSG00000152223ENST00000282041p.R538Qc.1613G>ASubstitution - Missense
EPB41L3ENSG00000082397ENST00000341928p.I459Mc.1377C>GSubstitution - Missense
ENST00000310075p.D502Vc.1505A>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.K7634fs*18c.22902delADeletion - Frameshift
ENST00000292520p.Q125Qc.375G>ASubstitution - coding silent
PROM2ENSG00000155066ENST00000317668p.V829fs*4c.2483delGDeletion - Frameshift
ROBO2ENSG00000185008ENST00000487694p.V722fs*1c.2160delGDeletion - Frameshift
UGT2A3ENSG00000135220ENST00000251566p.K341fs*5c.1023delADeletion - Frameshift
STAC2ENSG00000141750ENST00000333461p.S157Pc.469T>CSubstitution - Missense
CCDC180ENSG00000197816ENST00000375202p.K773Rc.2318A>GSubstitution - Missense
CLUHENSG00000132361ENST00000435359p.L1025Lc.3075C>TSubstitution - coding silent
HEXDCENSG00000169660ENST00000337014p.S345Fc.1034C>TSubstitution - Missense
SETBP1ENSG00000152217ENST00000282030p.E456Dc.1368G>TSubstitution - Missense
MAGI1ENSG00000151276ENST00000330909p.P1280Lc.3839C>TSubstitution - Missense
NEFMENSG00000104722ENST00000221166p.A205Vc.614C>TSubstitution - Missense
DOCK5ENSG00000147459ENST00000276440p.T92Tc.276G>ASubstitution - coding silent
RAP1GAP2ENSG00000132359ENST00000254695p.V312Mc.934G>ASubstitution - Missense
ITGB4ENSG00000132470ENST00000339591p.?c.2634-7G>AUnknown
CELF5ENSG00000161082ENST00000292672p.A359Tc.1075G>ASubstitution - Missense
DLGAP4ENSG00000080845ENST00000340491p.P98fs*6c.289delCDeletion - Frameshift
HCCSENSG00000004961ENST00000321143p.A262Tc.784G>ASubstitution - Missense
ENST00000331986p.S6494Ac.19480T>GSubstitution - Missense
ENST00000331986p.A6492Ec.19475C>ASubstitution - Missense
MYOCDENSG00000141052ENST00000425538p.S953Sc.2859C>TSubstitution - coding silent
NM_004259.4p.F632Fc.1896C>TSubstitution - coding silent
CMIPENSG00000153815ENST00000539778p.D93Dc.279C>TSubstitution - coding silent
CNTNAP4ENSG00000152910ENST00000478060p.F973Lc.2917T>CSubstitution - Missense
OPRK1ENSG00000082556ENST00000265572p.R339Wc.1015C>TSubstitution - Missense
FAM171BENSG00000144369ENST00000304698p.E649Ec.1947A>GSubstitution - coding silent
TPTE2ENSG00000132958ENST00000400230p.K11Ec.31A>GSubstitution - Missense
H6PDENSG00000049239ENST00000377403p.A664Ac.1992C>TSubstitution - coding silent
ENST00000343901_v65p.?c.990+3T>CUnknown
RPL10LENSG00000165496ENST00000298283p.R116*c.346C>TSubstitution - Nonsense
MORN1ENSG00000116151ENST00000378531p.R161Wc.481C>TSubstitution - Missense
NUTM2DENSG00000214562ENST00000412718p.A42Vc.125C>TSubstitution - Missense
C3AR1ENSG00000171860ENST00000307637p.L118Mc.352C>ASubstitution - Missense
ANKRD30AENSG00000148513ENST00000361713p.V33Vc.99A>GSubstitution - coding silent
SIN3AENSG00000169375ENST00000394947p.G174Dc.521G>ASubstitution - Missense
UBE3BENSG00000151148ENST00000434735p.R997Cc.2989C>TSubstitution - Missense
NM_015057.1p.C4350Cc.13050T>CSubstitution - coding silent
FBXW7ENSG00000109670ENST00000296555p.R347Hc.1040G>ASubstitution - Missense
PRR23CENSG00000233701ENST00000413199p.A176Tc.526G>ASubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.R1420*c.4258C>TSubstitution - Nonsense
PSMA8ENSG00000154611ENST00000308268p.K50fs*12c.143delADeletion - Frameshift
CTC1ENSG00000178971ENST00000315684p.P944fs*7c.2831delCDeletion - Frameshift
GNG12ENSG00000172380ENST00000370982p.T68fs*>5c.202delADeletion - Frameshift
PCNXL2ENSG00000135749ENST00000258229p.C1781Cc.5343C>TSubstitution - coding silent
FRMD4AENSG00000151474ENST00000357447p.P1005fs*8c.3014delCDeletion - Frameshift
ZNF124ENSG00000196418ENST00000340684p.M289fs?c.865delADeletion - Frameshift
KLHDC7AENSG00000179023ENST00000400664p.C718Cc.2154C>TSubstitution - coding silent
PRKCGENSG00000126583ENST00000540413p.?c.1373+1G>AUnknown
THSD4ENSG00000187720ENST00000355327p.G478Vc.1433G>TSubstitution - Missense
SAMD8ENSG00000156671ENST00000372687p.R11Hc.32G>ASubstitution - Missense
SKOR1ENSG00000188779ENST00000389002p.P768Pc.2304C>TSubstitution - coding silent
RPL22ENSG00000116251ENST00000234875p.K15fs*5c.44delADeletion - Frameshift
SHROOM4ENSG00000158352ENST00000289292p.K1314fs*23c.3941delADeletion - Frameshift
DYNLRB2ENSG00000168589ENST00000305904p.N64Nc.192C>TSubstitution - coding silent
NUP214ENSG00000126883ENST00000451030p.P1987Lc.5960C>TSubstitution - Missense
SLC12A4ENSG00000124067ENST00000537830p.?c.1437-8C>AUnknown
RECQL5ENSG00000108469ENST00000317905p.V331Vc.993C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000341594p.S4829Ic.14486G>TSubstitution - Missense
MAST4ENSG00000069020ENST00000403666p.?c.196+3A>GUnknown
MTHFD1ENSG00000100714ENST00000216605p.A699Tc.2095G>ASubstitution - Missense
SYNE2ENSG00000054654ENST00000357395p.R2593Hc.7778G>ASubstitution - Missense
SLC43A1ENSG00000149150ENST00000278426p.L92Lc.276G>ASubstitution - coding silent
UBR3ENSG00000144357ENST00000418381p.H1804Qc.5412C>GSubstitution - Missense
GPR20ENSG00000204882ENST00000377741p.R81Rc.243C>TSubstitution - coding silent
PHF20L1ENSG00000129292ENST00000220847p.W60*c.180G>ASubstitution - Nonsense
SLC9A3ENSG00000066230ENST00000264938p.A236Vc.707C>TSubstitution - Missense
C5orf51ENSG00000205765ENST00000381647p.L47Lc.139T>CSubstitution - coding silent
CACNB4ENSG00000182389ENST00000534999p.R448Qc.1343G>ASubstitution - Missense
IL27RAENSG00000104998ENST00000263379p.A174Vc.521C>TSubstitution - Missense
DDX39BENSG00000198563ENST00000396172p.L161Lc.481C>TSubstitution - coding silent
PRRC2AENSG00000204469ENST00000376033p.Y246Yc.738C>TSubstitution - coding silent
CDHR3ENSG00000128536ENST00000317716p.?c.1826-10T>CUnknown
SAMD4BENSG00000179134ENST00000314471p.A414fs*14c.1237delGDeletion - Frameshift
ENST00000297053p.K8Kc.24G>ASubstitution - coding silent
ZBTB7AENSG00000178951ENST00000322357p.G358Gc.1074C>TSubstitution - coding silent
PLD3ENSG00000105223ENST00000409587p.V199Ic.595G>ASubstitution - Missense
CABIN1ENSG00000099991ENST00000398319p.D1373Nc.4117G>ASubstitution - Missense
SLC4A10ENSG00000144290ENST00000415876p.T105Tc.315C>TSubstitution - coding silent
PCDHA1ENSG00000204970ENST00000504120p.A484Tc.1450G>ASubstitution - Missense
MCF2L2ENSG00000053524ENST00000328913p.K866Nc.2598A>CSubstitution - Missense
ZNF292ENSG00000188994ENST00000339907p.S736Gc.2206A>GSubstitution - Missense
MYO19ENSG00000141140ENST00000431794p.T403Tc.1209C>TSubstitution - coding silent
VAV2ENSG00000160293ENST00000371850p.T458Tc.1374C>TSubstitution - coding silent
PCSK5ENSG00000099139ENST00000545128p.I239Ic.717C>ASubstitution - coding silent
VPS13AENSG00000197969ENST00000357409p.V2296Ac.6887T>CSubstitution - Missense
ZFP30ENSG00000120784ENST00000351218p.F475Fc.1425T>CSubstitution - coding silent
CSMD3ENSG00000164796ENST00000343508p.T1981Tc.5943G>ASubstitution - coding silent
NR3C2ENSG00000151623ENST00000358102p.D565Nc.1693G>ASubstitution - Missense
USP6ENSG00000129204ENST00000250066p.?c.4047+2T>CUnknown
ICAM3ENSG00000076662ENST00000160262p.T333Tc.999C>TSubstitution - coding silent
CDH7ENSG00000081138ENST00000323011p.Y653Cc.1958A>GSubstitution - Missense
SLC35F1ENSG00000196376ENST00000360388p.A113Ac.339C>TSubstitution - coding silent
CD164ENSG00000135535ENST00000413644p.C178Cc.534C>TSubstitution - coding silent
TM6SF2ENSG00000213996ENST00000389363p.?c.297+2T>CUnknown
HIPK2ENSG00000064393ENST00000406875p.E243fs*16c.727_728insACCTInsertion - Frameshift
COL18A1ENSG00000182871ENST00000355480p.Y248Yc.744C>TSubstitution - coding silent
COL18A1ENSG00000182871ENST00000355480p.P459Pc.1377C>TSubstitution - coding silent
TRMT1ENSG00000104907ENST00000357720p.S237Sc.711C>TSubstitution - coding silent
ENST00000375206p.K912Rc.2735A>GSubstitution - Missense
SGSHENSG00000181523ENST00000326317p.S202Nc.605G>ASubstitution - Missense
ZNF831ENSG00000124203ENST00000371030p.S832Nc.2495G>ASubstitution - Missense
LSM14BENSG00000149657ENST00000279068p.A297Ac.891C>TSubstitution - coding silent
DDX58ENSG00000107201ENST00000379883p.L808Lc.2424G>TSubstitution - coding silent
RBM12BENSG00000183808ENST00000399300p.R55Hc.164G>ASubstitution - Missense
FLNBENSG00000136068ENST00000490882p.R1436*c.4306C>TSubstitution - Nonsense
DOCK5ENSG00000147459ENST00000276440p.?c.1443+7G>AUnknown
ZBTB4ENSG00000174282ENST00000380599p.V32Ic.94G>ASubstitution - Missense
HIATL1ENSG00000148110ENST00000375344p.S494Cc.1481C>GSubstitution - Missense
LILRA2ENSG00000239998ENST00000251376p.?c.35-4C>AUnknown
ZNF254ENSG00000213096ENST00000357002p.A330Tc.988G>ASubstitution - Missense
TRIB3ENSG00000101255ENST00000217233p.V101fs*109c.297delCDeletion - Frameshift
UNC80ENSG00000144406ENST00000439458p.R1522Rc.4566G>TSubstitution - coding silent
MYO1BENSG00000128641ENST00000339514p.T569Tc.1707A>GSubstitution - coding silent
TRIM55ENSG00000147573ENST00000276573p.I288fs*13c.855delADeletion - Frameshift
CTXN1ENSG00000178531ENST00000318978p.V40Vc.120G>TSubstitution - coding silent
AZU1ENSG00000172232ENST00000233997p.N105Dc.313A>GSubstitution - Missense
COL4A6ENSG00000197565ENST00000334504p.G610fs*127c.1827delADeletion - Frameshift
TRIM47ENSG00000132481ENST00000254816p.R510Rc.1530C>TSubstitution - coding silent
MYSM1ENSG00000162601ENST00000472487p.?c.1495-4G>AUnknown
C1orf173ENSG00000178965ENST00000326665p.V472Ac.1415T>CSubstitution - Missense
WDTC1ENSG00000142784ENST00000361771p.R12Hc.35G>ASubstitution - Missense
PRKACBENSG00000142875ENST00000394838p.T308Tc.924A>GSubstitution - coding silent
MLYCDENSG00000103150ENST00000262430p.R412Hc.1235G>ASubstitution - Missense
MYCBPAPENSG00000136449ENST00000323776p.F551Ic.1651T>ASubstitution - Missense
OVCH1ENSG00000187950ENST00000318184p.?c.454+7A>GUnknown
NINENSG00000100503ENST00000245441p.F1304Sc.3911T>CSubstitution - Missense
PYGLENSG00000100504ENST00000216392p.R816Qc.2447G>ASubstitution - Missense
SEC23AENSG00000100934ENST00000307712p.?c.279+1G>AUnknown
BCL11BENSG00000127152ENST00000357195p.K469Kc.1407G>ASubstitution - coding silent
RBPMS2ENSG00000166831ENST00000300069p.?c.165+8A>GUnknown
XM_031689.7p.L816Mc.2446C>ASubstitution - Missense
OR6F1ENSG00000169214ENST00000302084p.I185Fc.553A>TSubstitution - Missense
PRAMEF2ENSG00000120952ENST00000240189p.A114Ac.342C>ASubstitution - coding silent
CCDC83ENSG00000150676ENST00000280245p.P412Sc.1234C>TSubstitution - Missense
RAB13ENSG00000143545ENST00000368575p.L202fs*>3c.604_605insCInsertion - Frameshift
CACNA1CENSG00000151067ENST00000347598p.N904Nc.2712C>TSubstitution - coding silent
NUP210LENSG00000143552ENST00000368559p.A1820Ac.5460A>GSubstitution - coding silent
MSTO1ENSG00000125459ENST00000245564p.Y224Cc.671A>GSubstitution - Missense
MAGI3ENSG00000081026ENST00000307546p.A1287Vc.3860C>TSubstitution - Missense
CHD4ENSG00000111642ENST00000309577p.M623Ic.1869G>ASubstitution - Missense
KMT2AENSG00000118058ENST00000534358p.A1122Dc.3365C>ASubstitution - Missense
MMP7ENSG00000137673ENST00000260227p.R197Hc.590G>ASubstitution - Missense
TBX19ENSG00000143178ENST00000367821p.D127Dc.381C>TSubstitution - coding silent
PTPN22ENSG00000134242ENST00000359785p.K177Kc.531G>ASubstitution - coding silent
KDM4AENSG00000066135ENST00000372396p.?c.2038-10T>CUnknown
FAM208BENSG00000108021ENST00000328090p.Y981Hc.2941T>CSubstitution - Missense
RXRGENSG00000143171ENST00000359842p.R286Cc.856C>TSubstitution - Missense
FAM149B1ENSG00000138286ENST00000242505p.A504Ac.1512G>ASubstitution - coding silent
CCDC88BENSG00000168071ENST00000356786p.A638Vc.1913C>TSubstitution - Missense
HRNRENSG00000197915ENST00000368801p.S531Ic.1592G>TSubstitution - Missense
ZMYM4ENSG00000146463ENST00000314607p.?c.925+7A>GUnknown
CSMD2ENSG00000121904ENST00000373381p.L895Fc.2683C>TSubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.A312Tc.934G>ASubstitution - Missense
PACS2ENSG00000179364ENST00000325438p.?c.2031+6T>GUnknown
SERPINH1ENSG00000149257ENST00000533603p.?c.622+8G>AUnknown
CBLN3ENSG00000139899ENST00000267406p.V117Ic.349G>ASubstitution - Missense
NACAENSG00000196531ENST00000550952p.S704Sc.2112G>ASubstitution - coding silent
GYS2ENSG00000111713ENST00000261195p.A263Vc.788C>TSubstitution - Missense
TSC2ENSG00000103197ENST00000219476p.R1713Hc.5138G>ASubstitution - Missense
C4orf50ENSG00000181215ENST00000324058p.D119Nc.355G>ASubstitution - Missense
CNPY4ENSG00000166997ENST00000262932p.I8Vc.22A>GSubstitution - Missense
TRIM10ENSG00000204613ENST00000376704p.?c.929-1G>AUnknown
DDX39BENSG00000198563ENST00000449757p.L184Lc.550C>TSubstitution - coding silent
ENST00000388903p.L1609Lc.4825C>TSubstitution - coding silent
ATAD5ENSG00000176208ENST00000321990p.R1753Hc.5258G>ASubstitution - Missense
FAM101BENSG00000183688ENST00000329099p.E85Kc.253G>ASubstitution - Missense
AHI1ENSG00000135541ENST00000327035p.D666Ec.1998T>ASubstitution - Missense
GRIA1ENSG00000155511ENST00000285900p.E207*c.619G>TSubstitution - Nonsense
KMT2CENSG00000055609ENST00000262189p.P4302fs*24c.12905delCDeletion - Frameshift
C9orf171ENSG00000188523ENST00000343036p.D190Vc.569A>TSubstitution - Missense
NFKBIDENSG00000167604ENST00000352614p.?c.1062+7G>AUnknown
MCF2L2ENSG00000053524ENST00000328913p.G736fs*15c.2205_2206insTInsertion - Frameshift
PLD1ENSG00000075651ENST00000351298p.R810Rc.2430G>ASubstitution - coding silent
COL15A1ENSG00000204291ENST00000375001p.K1175fs*7c.3520delADeletion - Frameshift
DNAJC25ENSG00000059769ENST00000313525p.S160Lc.479C>TSubstitution - Missense
RHOQENSG00000119729ENST00000238738p.K55fs*9c.155_156insGInsertion - Frameshift
BRD9ENSG00000028310ENST00000467963p.S548Pc.1642T>CSubstitution - Missense
POF1BENSG00000124429ENST00000262753p.R329*c.985C>TSubstitution - Nonsense
SHROOM2ENSG00000146950ENST00000380913p.P320fs*141c.955delCDeletion - Frameshift
GATAD2AENSG00000167491ENST00000360315p.A346Ac.1038G>ASubstitution - coding silent
TBX22ENSG00000122145ENST00000373296p.C171Rc.511T>CSubstitution - Missense
AMER1ENSG00000184675ENST00000330258p.R358Qc.1073G>ASubstitution - Missense
GDPD2ENSG00000130055ENST00000374382p.E238Kc.712G>ASubstitution - Missense
CCDC125ENSG00000183323ENST00000396496p.G277Rc.829G>ASubstitution - Missense
EXOSC7ENSG00000075914ENST00000265564p.S229Sc.687G>TSubstitution - coding silent
ZNF92ENSG00000146757ENST00000328747p.N355_F440>ILc.1062_1318>AATTCComplex - deletion inframe
MUC12ENSG00000205277ENST00000536621p.W4332Gc.12994T>GSubstitution - Missense
USP42ENSG00000106346ENST00000306177p.A1268Tc.3802G>ASubstitution - Missense
LRTOMTENSG00000184154ENST00000324866p.G5Gc.15C>TSubstitution - coding silent
ZC3H4ENSG00000130749ENST00000253048p.P749fs*23c.2246delCDeletion - Frameshift
HS6ST1ENSG00000136720ENST00000259241p.D393Nc.1177G>ASubstitution - Missense
SLC9C1ENSG00000172139ENST00000305815p.?c.3524+6C>AUnknown
STX11ENSG00000135604ENST00000367568p.V224Vc.672A>GSubstitution - coding silent
ENST00000381114p.V2302Vc.6906C>TSubstitution - coding silent
DKC1ENSG00000130826ENST00000369550p.L229Lc.685T>CSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.A162Tc.484G>ASubstitution - Missense
CNKSR2ENSG00000149970ENST00000379510p.A798Vc.2393C>TSubstitution - Missense
SYNJ2ENSG00000078269ENST00000355585p.G666Gc.1998C>TSubstitution - coding silent
ABCB5ENSG00000004846ENST00000404938p.T1058Nc.3173C>ASubstitution - Missense
CCDC120ENSG00000147144ENST00000376396p.G34Gc.102G>ASubstitution - coding silent
NM_173357.2p.A117Sc.349G>TSubstitution - Missense
APCENSG00000134982ENST00000457016p.L519Lc.1555C>TSubstitution - coding silent
C16orf13ENSG00000130731ENST00000301686p.?c.421-7C>TUnknown
TBCKENSG00000145348ENST00000273980p.V70Mc.208G>ASubstitution - Missense
SGOL1ENSG00000129810ENST00000263753p.L441Lc.1323G>CSubstitution - coding silent
RARBENSG00000077092ENST00000330688p.R119Qc.356G>ASubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.K356Rc.1067A>GSubstitution - Missense
MYH15ENSG00000144821ENST00000273353p.S1337Sc.4011C>ASubstitution - coding silent
MGRN1ENSG00000102858ENST00000399577p.R456Rc.1366C>ASubstitution - coding silent
PRSS36ENSG00000178226ENST00000268281p.G556Ec.1667G>ASubstitution - Missense
PRR14LENSG00000183530ENST00000397493p.I1382fs*44c.4143delGDeletion - Frameshift
ENST00000333679p.D602Dc.1806T>CSubstitution - coding silent
ZNRF4ENSG00000105428ENST00000222033p.R75Wc.223C>TSubstitution - Missense
CCT8L2ENSG00000198445ENST00000359963p.R48Wc.142C>TSubstitution - Missense
SPIRE2ENSG00000204991ENST00000378247p.S387Sc.1161C>ASubstitution - coding silent
C20orf112ENSG00000197183ENST00000359676p.I89Lc.265A>CSubstitution - Missense
FASTKD5ENSG00000215251ENST00000380266p.P583Lc.1748C>TSubstitution - Missense
STARD3ENSG00000131748ENST00000336308p.T282Tc.846G>ASubstitution - coding silent
KRT28ENSG00000173908ENST00000306658p.N25Dc.73A>GSubstitution - Missense
GMPPBENSG00000173540ENST00000308375p.C334Cc.1002C>TSubstitution - coding silent
UNC93AENSG00000112494ENST00000230256p.L405fs*14c.1212delTDeletion - Frameshift
WDR82ENSG00000164091ENST00000296490p.S270Sc.810C>TSubstitution - coding silent
UEVLDENSG00000151116ENST00000543987p.G100Gc.300A>GSubstitution - coding silent
IPO9ENSG00000198700ENST00000361565p.H737fs*55c.2209_2210delCADeletion - Frameshift
ATHL1ENSG00000142102ENST00000409548p.?c.1480+8G>AUnknown
PDHXENSG00000110435ENST00000227868p.R257Lc.770G>TSubstitution - Missense
ANO3ENSG00000134343ENST00000256737p.S53Pc.157T>CSubstitution - Missense
NUBP2ENSG00000095906ENST00000262302p.S57Gc.169A>GSubstitution - Missense
PTX4ENSG00000251692ENST00000447419p.N71Nc.213C>TSubstitution - coding silent
MLLT10ENSG00000078403ENST00000377100p.S142Pc.424T>CSubstitution - Missense
NBPF10ENSG00000163386ENST00000369338p.?c.1767-1G>AUnknown
ANPEPENSG00000166825ENST00000300060p.E291Kc.871G>ASubstitution - Missense
MUC2ENSG00000198788ENST00000359061p.I1243Tc.3728T>CSubstitution - Missense
MUC2ENSG00000198788ENST00000441003p.V2101Mc.6301G>ASubstitution - Missense
FANCFENSG00000183161ENST00000327470p.R122Wc.364C>TSubstitution - Missense
CAPN3ENSG00000092529ENST00000397163p.R437Cc.1309C>TSubstitution - Missense
VANGL1ENSG00000173218ENST00000355485p.A93Vc.278C>TSubstitution - Missense
PLOD1ENSG00000083444ENST00000429000p.V124fs*118c.369delGDeletion - Frameshift
NBEAENSG00000172915ENST00000379922p.E96Gc.287A>GSubstitution - Missense
EPB41ENSG00000159023ENST00000343067p.N258Nc.774C>TSubstitution - coding silent
EPB41ENSG00000159023ENST00000349460p.N49Nc.147C>TSubstitution - coding silent
ABCC8ENSG00000006071ENST00000389817p.L368Lc.1102C>TSubstitution - coding silent
ENST00000535394p.S13Sc.39G>CSubstitution - coding silent
VEGFBENSG00000173511ENST00000309422p.D130fs*35c.378_379insAInsertion - Frameshift
ENST00000329504p.G126Rc.376G>ASubstitution - Missense
NADKENSG00000008130ENST00000344463p.R63Hc.188G>ASubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.T1223Tc.3669A>GSubstitution - coding silent
ABCC9ENSG00000069431ENST00000261201p.S1235Yc.3704C>ASubstitution - Missense
PGM2L1ENSG00000165434ENST00000298198p.E3Dc.9A>TSubstitution - Missense
EDRF1ENSG00000107938ENST00000356792p.V1220Ac.3659T>CSubstitution - Missense
ETV3ENSG00000117036ENST00000368192p.K473fs*10c.1410_1411insCInsertion - Frameshift
CTDSP2ENSG00000175215ENST00000398073p.R35Hc.104G>ASubstitution - Missense
MFSD5ENSG00000182544ENST00000534842p.R348Hc.1043G>ASubstitution - Missense
PROX1ENSG00000117707ENST00000498508p.R71Cc.211C>TSubstitution - Missense
ENST00000338010_v68p.H225Yc.673C>TSubstitution - Missense
PTPN14ENSG00000152104ENST00000366956p.R1045Lc.3134G>TSubstitution - Missense
SMARCC2ENSG00000139613ENST00000267064p.R119Hc.356G>ASubstitution - Missense
SSH1ENSG00000084112ENST00000326470p.S125Sc.375C>TSubstitution - coding silent
OAS1ENSG00000089127ENST00000445409p.P301Lc.902C>TSubstitution - Missense
VCAM1ENSG00000162692ENST00000294728p.E376Dc.1128G>CSubstitution - Missense
EOMESENSG00000163508ENST00000295743p.G332fs*4c.995delGDeletion - Frameshift
F8ENSG00000185010ENST00000360256p.E1292fs*16c.3870delADeletion - Frameshift
PRDM14ENSG00000147596ENST00000276594p.K520Nc.1560G>CSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.S447Ic.1340G>TSubstitution - Missense
EVC2ENSG00000173040ENST00000344938p.L460Pc.1379T>CSubstitution - Missense
FILIP1ENSG00000118407ENST00000393004p.V506Mc.1516G>ASubstitution - Missense
ST8SIA6ENSG00000148488ENST00000440449p.A73fs*52c.214delADeletion - Frameshift
HIPK2ENSG00000064393ENST00000342645p.E243fs*16c.727_728insACCTInsertion - Frameshift
DOCK7ENSG00000116641ENST00000251157p.G189fs*10c.566delGDeletion - Frameshift
FLNBENSG00000136068ENST00000357272p.R1436*c.4306C>TSubstitution - Nonsense
DOCK1ENSG00000150760ENST00000280333p.C1404*c.4212C>ASubstitution - Nonsense
DOCK9ENSG00000088387ENST00000442173p.S695Sc.2085C>TSubstitution - coding silent
BLZF1ENSG00000117475ENST00000367807p.S37Sc.111C>TSubstitution - coding silent
NIPAL3ENSG00000001461ENST00000432012p.F21Sc.62T>CSubstitution - Missense
ECE1ENSG00000117298ENST00000264205p.P299Sc.895C>TSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.N4217Sc.12650A>GSubstitution - Missense
TP63ENSG00000073282ENST00000264731p.T193Tc.579G>ASubstitution - coding silent
GLE1ENSG00000119392ENST00000309971p.I126fs*16c.371delGDeletion - Frameshift
HCRTR2ENSG00000137252ENST00000370862p.R41Wc.121C>TSubstitution - Missense
RGL2ENSG00000237441ENST00000497454p.T149Tc.447C>TSubstitution - coding silent
DCTDENSG00000129187ENST00000438320p.I122Vc.364A>GSubstitution - Missense
HRH2ENSG00000113749ENST00000231683p.C118Cc.354C>TSubstitution - coding silent
LETM1ENSG00000168924ENST00000302787p.N646Nc.1938C>TSubstitution - coding silent
DDX60LENSG00000181381ENST00000260184p.F688Cc.2063T>GSubstitution - Missense
PLVAPENSG00000130300ENST00000252590p.S394Sc.1182G>ASubstitution - coding silent
HBA2ENSG00000188536ENST00000251595p.T109Tc.327C>ASubstitution - coding silent
ITGB5ENSG00000082781ENST00000296181p.C433Yc.1298G>ASubstitution - Missense
PNISRENSG00000132424ENST00000369239p.K504fs*79c.1512delADeletion - Frameshift
PMS2ENSG00000122512ENST00000265849p.A38Vc.113C>TSubstitution - Missense
CUL7ENSG00000044090ENST00000265348p.R623Cc.1867C>TSubstitution - Missense
UTRNENSG00000152818ENST00000367545p.I2215Vc.6643A>GSubstitution - Missense
MAP3K4ENSG00000085511ENST00000392142p.?c.4806+2deltUnknown
DMDENSG00000198947ENST00000378677p.P2958Lc.8873C>TSubstitution - Missense
TMLHEENSG00000185973ENST00000334398p.Y23fs*34c.68_69delATDeletion - Frameshift
SP110ENSG00000135899ENST00000258381p.D694fs*>20c.2079delADeletion - Frameshift
CNTNAP5ENSG00000155052ENST00000431078p.V428Mc.1282G>ASubstitution - Missense
CCDC93ENSG00000125633ENST00000376300p.R213Hc.638G>ASubstitution - Missense
TSNAXIP1ENSG00000102904ENST00000388833p.G591fs*2c.1768delGDeletion - Frameshift
ENST00000290858_v70p.A146Ac.438T>CSubstitution - coding silent
CCDC22ENSG00000101997ENST00000376227p.A418Ac.1254G>ASubstitution - coding silent
ZNF587ENSG00000198466ENST00000339656p.R41Hc.122G>ASubstitution - Missense
CD300CENSG00000167850ENST00000330793p.P115Sc.343C>TSubstitution - Missense
CTDSPLENSG00000144677ENST00000273179p.R148Qc.443G>ASubstitution - Missense
LRRTM1ENSG00000162951ENST00000417012p.A206Tc.616G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000346145p.Q52Lc.155A>TSubstitution - Missense
CASKENSG00000147044ENST00000378166p.R641Kc.1922G>ASubstitution - Missense
FAM47BENSG00000189132ENST00000329357p.D44Gc.131A>GSubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.K660Ec.1978A>GSubstitution - Missense
LIMK2ENSG00000182541ENST00000331728p.H34Hc.102C>TSubstitution - coding silent
ABHD1ENSG00000143994ENST00000316470p.C174fs*8c.516delTDeletion - Frameshift
GPT2ENSG00000166123ENST00000340124p.R249Qc.746G>ASubstitution - Missense
ZNF668ENSG00000167394ENST00000394983p.A151Tc.451G>ASubstitution - Missense
C16orf90ENSG00000215131ENST00000437192p.P42Lc.125C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.Y23853Cc.71558A>GSubstitution - Missense
PTCD1ENSG00000106246ENST00000292478p.A596Ac.1788G>ASubstitution - coding silent
PPP1R9AENSG00000158528ENST00000433360p.N1077Dc.3229A>GSubstitution - Missense
CEP192ENSG00000101639ENST00000506447p.P2376Lc.7127C>TSubstitution - Missense
ATP10DENSG00000145246ENST00000273859p.R1044Hc.3131G>ASubstitution - Missense
KLBENSG00000134962ENST00000257408p.T313Mc.938C>TSubstitution - Missense
CORINENSG00000145244ENST00000273857p.G986Sc.2956G>ASubstitution - Missense
STARD3ENSG00000131748ENST00000336308p.A125Vc.374C>TSubstitution - Missense
KDM1BENSG00000165097ENST00000388870p.D287Vc.860A>TSubstitution - Missense
ZNF322ENSG00000181315ENST00000415922p.K377fs*7c.1131delADeletion - Frameshift
LAMA3ENSG00000053747ENST00000313654p.R2147Qc.6440G>ASubstitution - Missense
MUM1ENSG00000160953ENST00000344663p.T240Mc.719C>TSubstitution - Missense
PRDM15ENSG00000141956ENST00000269844p.P1483Pc.4449G>ASubstitution - coding silent
CCDC158ENSG00000163749ENST00000388914p.G641Cc.1921G>TSubstitution - Missense
IRX6ENSG00000159387ENST00000290552p.A278Gc.833C>GSubstitution - Missense
GLYR1ENSG00000140632ENST00000321919p.R352Cc.1054C>TSubstitution - Missense
CLUHENSG00000132361ENST00000435359p.L1025Lc.3075C>TSubstitution - coding silent
LGALS9ENSG00000168961ENST00000395473p.C316Cc.948C>TSubstitution - coding silent
EFCAB5ENSG00000176927ENST00000394835p.R1329Qc.3986G>ASubstitution - Missense
SLC6A4ENSG00000108576ENST00000261707p.G128Gc.384G>ASubstitution - coding silent
HMHA1ENSG00000180448ENST00000313093p.S530Sc.1590C>TSubstitution - coding silent
PIGOENSG00000165282ENST00000378617p.A839Gc.2516C>GSubstitution - Missense
ENST00000291050p.S82Fc.245C>TSubstitution - Missense
CACNA1DENSG00000157388ENST00000350061p.I733Tc.2198T>CSubstitution - Missense
RAI1ENSG00000108557ENST00000353383p.D1132Yc.3394G>TSubstitution - Missense
ZBTB4ENSG00000174282ENST00000311403p.S145Sc.435C>TSubstitution - coding silent
GPRASP1ENSG00000198932ENST00000415986p.L427Vc.1279C>GSubstitution - Missense
TUSC5ENSG00000184811ENST00000333813p.R150Qc.449G>ASubstitution - Missense
TAS1R1ENSG00000173662ENST00000333172p.A630Ac.1890G>ASubstitution - coding silent
MCOLN3ENSG00000055732ENST00000370587p.E192*c.574G>TSubstitution - Nonsense
CMIPENSG00000153815ENST00000537098p.D187Dc.561C>TSubstitution - coding silent
MTFMTENSG00000103707ENST00000220058p.I177Sc.530T>GSubstitution - Missense
FYBENSG00000082074ENST00000505428p.P325Tc.973C>ASubstitution - Missense
RAI14ENSG00000039560ENST00000265109p.S88Sc.264C>TSubstitution - coding silent
PRKAA2ENSG00000162409ENST00000371244p.E264Ec.792G>ASubstitution - coding silent
TNNT3ENSG00000130595ENST00000278317p.?c.68-4G>AUnknown
CD4ENSG00000010610ENST00000011653p.K167fs*13c.498_499insGInsertion - Frameshift
DTLENSG00000143476ENST00000366991p.R678Qc.2033G>ASubstitution - Missense
MYO9AENSG00000066933ENST00000356056p.R1819Wc.5455C>TSubstitution - Missense
TLR8ENSG00000101916ENST00000218032p.R338Hc.1013G>ASubstitution - Missense
DIRAS2ENSG00000165023ENST00000375765p.A81Tc.241G>ASubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.G2207Dc.6620G>ASubstitution - Missense
KIAA0825ENSG00000185261ENST00000513200p.F767fs*27c.2301delTDeletion - Frameshift
GJB3ENSG00000188910ENST00000373366p.R160Cc.478C>TSubstitution - Missense
CD4ENSG00000010610ENST00000011653p.K167fs*31c.492delGDeletion - Frameshift
MKI67ENSG00000148773ENST00000368654p.T1054Tc.3162G>ASubstitution - coding silent
PRRC2CENSG00000117523ENST00000392078p.A117Ac.351A>TSubstitution - coding silent
SAMD8ENSG00000156671ENST00000372690p.R74Hc.221G>ASubstitution - Missense
MYBPC1ENSG00000196091ENST00000361466p.T757Mc.2270C>TSubstitution - Missense
SORL1ENSG00000137642ENST00000260197p.R1985Hc.5954G>ASubstitution - Missense
MLLT3ENSG00000171843ENST00000380338p.T351Mc.1052C>TSubstitution - Missense
BNC2ENSG00000173068ENST00000380666p.N724Nc.2172C>TSubstitution - coding silent
CNKSR2ENSG00000149970ENST00000279451p.A798Vc.2393C>TSubstitution - Missense
RNF43ENSG00000108375ENST00000407977p.G659fs*41c.1976delGDeletion - Frameshift
TRPV3ENSG00000167723ENST00000301365p.V385Mc.1153G>ASubstitution - Missense
SLITRK5ENSG00000165300ENST00000400028p.R450Cc.1348C>TSubstitution - Missense
PTPRKENSG00000152894ENST00000368227p.T1046Ac.3136A>GSubstitution - Missense
TRERF1ENSG00000124496ENST00000372917p.I866Ic.2598C>TSubstitution - coding silent
MYBENSG00000118513ENST00000316528p.D400Ec.1200T>GSubstitution - Missense
DDX39BENSG00000198563ENST00000417556p.L176Lc.526C>TSubstitution - coding silent
ENST00000204005_v70p.A1371fs*3c.4103_4104insCInsertion - Frameshift
GPATCH4ENSG00000160818ENST00000438976p.K210fs*73c.629delADeletion - Frameshift
TNNT2ENSG00000118194ENST00000360372p.?c.675-6G>AUnknown
MPP4ENSG00000082126ENST00000359962p.P320Pc.960G>ASubstitution - coding silent
IL12RB1ENSG00000096996ENST00000593993p.A317Ac.951T>CSubstitution - coding silent
IFRD2ENSG00000214706ENST00000429673p.I431Ic.1293C>TSubstitution - coding silent
MON2ENSG00000061987ENST00000280379p.G719Gc.2157C>TSubstitution - coding silent
NTNG1ENSG00000162631ENST00000542803p.T15Tc.45G>ASubstitution - coding silent
XIRP2ENSG00000163092ENST00000295237p.L2886Lc.8658G>ASubstitution - coding silent
RABEPKENSG00000136933ENST00000373538p.G33Gc.99C>TSubstitution - coding silent
TRAF1ENSG00000056558ENST00000373887p.V327Mc.979G>ASubstitution - Missense
SFR1ENSG00000156384ENST00000336358p.A271Dc.812C>ASubstitution - Missense
TOR2AENSG00000160404ENST00000373284p.V268Ic.802G>ASubstitution - Missense
PHF20L1ENSG00000129292ENST00000395386p.G752Rc.2254G>ASubstitution - Missense
TTC21BENSG00000123607ENST00000243344p.V811fs*11c.2430delADeletion - Frameshift
WDR90ENSG00000161996ENST00000293879p.T1535Tc.4605C>TSubstitution - coding silent
OR10H4ENSG00000176231ENST00000322107p.E234Ec.702A>GSubstitution - coding silent
CCNFENSG00000162063ENST00000397066p.S653Ac.1957T>GSubstitution - Missense
CLIC5ENSG00000112782ENST00000339561p.G30Cc.88G>TSubstitution - Missense
LNX1ENSG00000072201ENST00000263925p.L641Lc.1923A>GSubstitution - coding silent
ZNF227ENSG00000131115ENST00000313040p.?c.60+4C>TUnknown
SLC32A1ENSG00000101438ENST00000217420p.L50Lc.150C>TSubstitution - coding silent
PPP1R18ENSG00000146112ENST00000399199p.G158Ec.473G>ASubstitution - Missense
PLXNB3ENSG00000198753ENST00000538966p.?c.1699-6T>AUnknown
BRD8ENSG00000112983ENST00000254900p.F780Cc.2339T>GSubstitution - Missense
FBXL18ENSG00000155034ENST00000382368p.L342Lc.1026G>ASubstitution - coding silent
TBC1D5ENSG00000131374ENST00000253692p.R573Cc.1717C>TSubstitution - Missense
RAD51DENSG00000185379ENST00000335858p.M16Ic.48G>ASubstitution - Missense
SNX30ENSG00000148158ENST00000374232p.D83Gc.248A>GSubstitution - Missense
ZNF462ENSG00000148143ENST00000277225p.G826Vc.2477G>TSubstitution - Missense
NM_198255.1p.R731Qc.2192G>ASubstitution - Missense
C5orf15ENSG00000113583ENST00000231512p.P106Pc.318C>ASubstitution - coding silent
PREPLENSG00000138078ENST00000260648p.F341fs*3c.1023delTDeletion - Frameshift
GPR98ENSG00000164199ENST00000405460p.L1665Lc.4993T>CSubstitution - coding silent
DSTENSG00000151914ENST00000370754p.H47Yc.139C>TSubstitution - Missense
OGTENSG00000147162ENST00000373719p.A28Vc.83C>TSubstitution - Missense
SREK1ENSG00000153914ENST00000380918p.K341fs*11c.1019delADeletion - Frameshift
SBF1ENSG00000100241ENST00000380817p.L769Pc.2306T>CSubstitution - Missense
NM_001184p.I475Sc.1424T>GSubstitution - Missense
BOCENSG00000144857ENST00000355385p.A555Vc.1664C>TSubstitution - Missense
TPRA1ENSG00000163870ENST00000355552p.G39Gc.117C>TSubstitution - coding silent
ULK2ENSG00000083290ENST00000361658p.N229fs*7c.686_687insAInsertion - Frameshift
DOCK6ENSG00000130158ENST00000319867p.A1702Ac.5106G>ASubstitution - coding silent
SOGA1ENSG00000149639ENST00000237536p.T1243Tc.3729G>ASubstitution - coding silent
MROH8ENSG00000101353ENST00000400441p.?c.1976+3A>GUnknown
DLGAP4ENSG00000080845ENST00000373913p.P637fs*6c.1906delCDeletion - Frameshift
TNPO3ENSG00000064419ENST00000265388p.R157Hc.470G>ASubstitution - Missense
TNPO3ENSG00000064419ENST00000393245p.R157Hc.470G>ASubstitution - Missense
TKTENSG00000163931ENST00000462138p.A93Ac.279C>TSubstitution - coding silent
CACNA1DENSG00000157388ENST00000288139p.I753Tc.2258T>CSubstitution - Missense
NEFMENSG00000104722ENST00000221166p.S434Sc.1302T>CSubstitution - coding silent
ENST00000380781p.Y368Cc.1103A>GSubstitution - Missense
NT5MENSG00000205309ENST00000389022p.R208fs*>22c.615_616insCInsertion - Frameshift
KIR3DX1ENSG00000104970ENST00000335056p.F250fs*59c.748delTDeletion - Frameshift
RHOXF2ENSG00000131721ENST00000371388p.A133Vc.398C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S10861Ac.32581T>GSubstitution - Missense
DDHD1ENSG00000100523ENST00000357758p.L631Sc.1892T>CSubstitution - Missense
FGRENSG00000000938ENST00000374005p.L508Lc.1524G>ASubstitution - coding silent
OR2T2ENSG00000196240ENST00000342927p.V127Mc.379G>ASubstitution - Missense
DNAAF1ENSG00000154099ENST00000378553p.E628fs*3c.1875_1876insAInsertion - Frameshift
SIRPB2ENSG00000196209ENST00000359801p.Q82Hc.246G>TSubstitution - Missense
TC2NENSG00000165929ENST00000360594p.W420*c.1259G>ASubstitution - Nonsense
NIPBLENSG00000164190ENST00000448238p.T528Tc.1584G>ASubstitution - coding silent
RFWD3ENSG00000168411ENST00000361070p.R396Cc.1186C>TSubstitution - Missense
AQRENSG00000021776ENST00000156471p.R811Cc.2431C>TSubstitution - Missense
CNTN2ENSG00000184144ENST00000331830p.G725fs*105c.2168delCDeletion - Frameshift
HDCENSG00000140287ENST00000267845p.S638Sc.1914C>TSubstitution - coding silent
PADI3ENSG00000142619ENST00000375460p.Q456Hc.1368G>TSubstitution - Missense
YEATS4ENSG00000127337ENST00000247843p.T44Ac.130A>GSubstitution - Missense
HCAR3ENSG00000255398ENST00000528880p.S326Nc.977G>ASubstitution - Missense
NOTCH2NLENSG00000213240ENST00000362074p.K31Rc.92A>GSubstitution - Missense
DCLRE1CENSG00000152457ENST00000378278p.E98fs*28c.292_299delGAAGCATCDeletion - Frameshift
RPP38ENSG00000152464ENST00000378203p.D214Gc.641A>GSubstitution - Missense
ENSG00000183748ENST00000331429p.I383fs*6c.1141delADeletion - Frameshift
EXOSC10ENSG00000171824ENST00000376936p.G164Dc.491G>ASubstitution - Missense
TTLL13ENSG00000213471ENST00000339615p.T397fs*7c.1185_1186insTInsertion - Frameshift
AGAP7ENSG00000204169ENST00000374095p.K551Kc.1653G>ASubstitution - coding silent
LTBP3ENSG00000168056ENST00000322147p.G814Vc.2441G>TSubstitution - Missense
ZNF365ENSG00000138311ENST00000395254p.R216Wc.646C>TSubstitution - Missense
ENST00000398860p.S1455Sc.4365C>TSubstitution - coding silent
SUCOENSG00000094975ENST00000367723p.K641Ec.1921A>GSubstitution - Missense
COPAENSG00000122218ENST00000241704p.G1179Ec.3536G>ASubstitution - Missense
PNLIPENSG00000175535ENST00000369221p.T335fs*10c.1000delADeletion - Frameshift
GOLGA8IENSG00000153666ENST00000450802p.?c.1131+4C>TUnknown
TNFAIP2ENSG00000185215ENST00000538222p.P62Hc.185C>ASubstitution - Missense
FGD6ENSG00000180263ENST00000343958p.S205Nc.614G>ASubstitution - Missense
MYO7AENSG00000137474ENST00000409709p.P1677Qc.5030C>ASubstitution - Missense
IL16ENSG00000172349ENST00000302987p.S804Lc.2411C>TSubstitution - Missense
XRRA1ENSG00000166435ENST00000340360p.?c.400+4A>GUnknown
MKI67ENSG00000148773ENST00000368654p.P2950Pc.8850T>CSubstitution - coding silent
FAM111BENSG00000189057ENST00000343597p.I213Vc.637A>GSubstitution - Missense
FCRL3ENSG00000160856ENST00000368184p.D352Nc.1054G>ASubstitution - Missense
PEAR1ENSG00000187800ENST00000338302p.R871Cc.2611C>TSubstitution - Missense
SU_OBSCN.1p.L7382Lc.22146C>TSubstitution - coding silent
CD1BENSG00000158485ENST00000368168p.A320Vc.959C>TSubstitution - Missense
VWFENSG00000110799ENST00000261405p.G1643Sc.4927G>ASubstitution - Missense
PDE3AENSG00000172572ENST00000359062p.D632Nc.1894G>ASubstitution - Missense
TMBIM6ENSG00000139644ENST00000423828p.G57Ec.170G>ASubstitution - Missense
ENST00000344698_v71p.C433Cc.1299C>TSubstitution - coding silent
ZC3H13ENSG00000123200ENST00000282007p.S1240fs*15c.3718delADeletion - Frameshift
ANKRD52ENSG00000139645ENST00000267116p.A906Vc.2717C>TSubstitution - Missense
ENST00000328974p.C201fs*2c.601delTDeletion - Frameshift
SYNPO2LENSG00000166317ENST00000394810p.T721Ac.2161A>GSubstitution - Missense
SYNPO2LENSG00000166317ENST00000372873p.T497Ac.1489A>GSubstitution - Missense
NEK2ENSG00000117650ENST00000366999p.V379Ac.1136T>CSubstitution - Missense
NM_058004.1p.D887Nc.2659G>ASubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.?c.2976+5A>GUnknown
KMT2CENSG00000055609ENST00000262189p.?c.2976+5A>GUnknown
BAZ2BENSG00000123636ENST00000392783p.G1295Ec.3884G>ASubstitution - Missense
RBBP6ENSG00000122257ENST00000319715p.R536*c.1606C>TSubstitution - Nonsense
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
ENST00000544729p.Q100Qc.300G>ASubstitution - coding silent
RGS22ENSG00000132554ENST00000360863p.L316fs*39c.947_948insTInsertion - Frameshift
NRMENSG00000137404ENST00000259953p.A61Tc.181G>ASubstitution - Missense
BMP6ENSG00000153162ENST00000283147p.?c.857+3A>TUnknown
LAMA2ENSG00000196569ENST00000421865p.R455Qc.1364G>ASubstitution - Missense
ZZEF1ENSG00000074755ENST00000381638p.R1134fs*30c.3400delADeletion - Frameshift
RALGDSENSG00000160271ENST00000372050p.F592Yc.1775T>ASubstitution - Missense
SNAPC4ENSG00000165684ENST00000298532p.A1438Tc.4312G>ASubstitution - Missense
RASEFENSG00000165105ENST00000340717p.R134*c.400C>TSubstitution - Nonsense
GTF3C4ENSG00000125484ENST00000372146p.Q358Qc.1074G>ASubstitution - coding silent
PCSK5ENSG00000099139ENST00000376752p.K110fs*41c.324delADeletion - Frameshift
C19orf33ENSG00000167644ENST00000588605p.R58Hc.173G>ASubstitution - Missense
CACTINENSG00000105298ENST00000221899p.K851fs*>17c.2553delADeletion - Frameshift
RREB1ENSG00000124782ENST00000379933p.T1080Tc.3240C>TSubstitution - coding silent
SLC22A4ENSG00000197208ENST00000200652p.R257Rc.769C>ASubstitution - coding silent
THADAENSG00000115970ENST00000405975p.?c.5164+8C>TUnknown
ELL2ENSG00000118985ENST00000237853p.V344Vc.1032A>GSubstitution - coding silent
RTTNENSG00000176225ENST00000255674p.L2096Lc.6286C>TSubstitution - coding silent
CHMENSG00000188419ENST00000357749p.E653Gc.1958A>GSubstitution - Missense
POPDC3ENSG00000132429ENST00000254765p.Q109Pc.326A>CSubstitution - Missense
MKL1ENSG00000196588ENST00000355630p.G883Gc.2649C>TSubstitution - coding silent
KIAA0408ENSG00000189367ENST00000483725p.I216Fc.646A>TSubstitution - Missense
GATAD2AENSG00000167491ENST00000360315p.A203Ac.609G>ASubstitution - coding silent
POLKENSG00000122008ENST00000241436p.F299Lc.895T>CSubstitution - Missense
FAM57BENSG00000149926ENST00000380495p.T78Tc.234G>ASubstitution - coding silent
CPNE4ENSG00000196353ENST00000512332p.R242Hc.725G>ASubstitution - Missense
LDOC1LENSG00000188636ENST00000341255p.S59Sc.177C>TSubstitution - coding silent
CELSR1ENSG00000075275ENST00000262738p.A2996Ac.8988C>TSubstitution - coding silent
MDH1ENSG00000014641ENST00000233114p.V76Fc.226G>TSubstitution - Missense
CCNT2ENSG00000082258ENST00000264157p.P595Pc.1785A>GSubstitution - coding silent
KLHL7ENSG00000122550ENST00000322231p.?c.871-7G>TUnknown
DMDENSG00000198947ENST00000378677p.P2958Lc.8873C>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.A162Tc.484G>ASubstitution - Missense
DOCK10ENSG00000135905ENST00000258390p.?c.6438+6C>TUnknown
NAE1ENSG00000159593ENST00000290810p.T274Ac.820A>GSubstitution - Missense
COLQENSG00000206561ENST00000383781p.K228Rc.683A>GSubstitution - Missense
ABCB5ENSG00000004846ENST00000258738p.T613Nc.1838C>ASubstitution - Missense
ZNF211ENSG00000121417ENST00000240731p.C499Rc.1495T>CSubstitution - Missense
ODC1ENSG00000115758ENST00000234111p.G201Dc.602G>ASubstitution - Missense
SCN5AENSG00000183873ENST00000413689p.Q641fs*3c.1921delCDeletion - Frameshift
SEPT10ENSG00000186522ENST00000397712p.R386fs*18c.1158_1161delAGAGDeletion - Frameshift
C2orf16ENSG00000221843ENST00000408964p.T87Pc.259A>CSubstitution - Missense
WDFY3ENSG00000163625ENST00000295888p.S3488Rc.10464T>ASubstitution - Missense
NM_006904p.E3639fs*14c.10914delADeletion - Frameshift
ZNF549ENSG00000121406ENST00000240719p.R236Hc.707G>ASubstitution - Missense
ENST00000338885p.A72Ac.216C>TSubstitution - coding silent
RBKSENSG00000171174ENST00000302188p.?c.90-4A>GUnknown
PIGZENSG00000119227ENST00000412723p.R470fs*22c.1401_1402insCInsertion - Frameshift
TMEM131ENSG00000075568ENST00000186436p.P1316Pc.3948G>ASubstitution - coding silent
PIK3R5ENSG00000141506ENST00000447110p.K263Nc.789A>CSubstitution - Missense
USP43ENSG00000154914ENST00000285199p.V353Vc.1059G>ASubstitution - coding silent
OSBPL6ENSG00000079156ENST00000190611p.I783Kc.2348T>ASubstitution - Missense
ZNF750ENSG00000141579ENST00000269394p.E616Dc.1848G>CSubstitution - Missense
ABCC12ENSG00000140798ENST00000311303p.P106Pc.318T>CSubstitution - coding silent
EPHA3ENSG00000044524ENST00000336596p.A851Tc.2551G>ASubstitution - Missense
DDX52ENSG00000141141ENST00000349699p.R203Wc.607C>TSubstitution - Missense
ENST00000375206p.S122Ic.365G>TSubstitution - Missense
POLG2ENSG00000256525ENST00000539111p.L475fs*2c.1423_1424delTTDeletion - Frameshift
NPAS3ENSG00000151322ENST00000357798p.S608Sc.1824G>ASubstitution - coding silent
PCSK6ENSG00000140479ENST00000348070p.?c.1411+4C>TUnknown
NIPAL3ENSG00000001461ENST00000374399p.A92Tc.274G>ASubstitution - Missense
CDK18ENSG00000117266ENST00000429964p.R126Rc.378C>TSubstitution - coding silent
SHC4ENSG00000185634ENST00000332408p.T300Ac.898A>GSubstitution - Missense
BNIP2ENSG00000140299ENST00000267859p.W218*c.654G>ASubstitution - Nonsense
ABCC1ENSG00000103222ENST00000399410p.V1326Mc.3976G>ASubstitution - Missense
PIAS3ENSG00000131788ENST00000393045p.S510Sc.1530T>CSubstitution - coding silent
C10orf53ENSG00000178645ENST00000374112p.P97Pc.291G>ASubstitution - coding silent
ARHGAP20ENSG00000137727ENST00000260283p.S996Sc.2988C>TSubstitution - coding silent
NPATENSG00000149308ENST00000278612p.R1062Hc.3185G>ASubstitution - Missense
SPAG6ENSG00000077327ENST00000376624p.A403fs*2c.1201delADeletion - Frameshift
RUFY2ENSG00000204130ENST00000388768p.N414fs*3c.1241delADeletion - Frameshift
TXLNAENSG00000084652ENST00000373609p.G96fs*8c.281_282insGInsertion - Frameshift
ENST00000356370_v68p.S127Fc.380C>TSubstitution - Missense
CALCAENSG00000110680ENST00000361010p.E73fs*17c.216_219delAGAGDeletion - Frameshift
CDK17ENSG00000059758ENST00000261211p.R71Wc.211C>TSubstitution - Missense
RPAP3ENSG00000005175ENST00000005386p.R207*c.619C>TSubstitution - Nonsense
CEP170BENSG00000099814ENST00000556508p.D1237Dc.3711T>CSubstitution - coding silent
METTL3ENSG00000165819ENST00000298717p.S384Nc.1151G>ASubstitution - Missense
ACIN1ENSG00000100813ENST00000262710p.D282Ec.846T>ASubstitution - Missense
CHD8ENSG00000100888ENST00000399982p.?c.7066-7A>GUnknown
STX5ENSG00000162236ENST00000294179p.A218Vc.653C>TSubstitution - Missense
OR5P2ENSG00000183303ENST00000329434p.Q135Qc.405A>GSubstitution - coding silent
NUP98ENSG00000110713ENST00000324932p.A210Vc.629C>TSubstitution - Missense
CTRCENSG00000162438ENST00000375949p.G205Gc.615C>TSubstitution - coding silent
ENST00000229088_v71p.S919Rc.2755A>CSubstitution - Missense
EPHA8ENSG00000070886ENST00000166244p.A671Ac.2013C>TSubstitution - coding silent
FBXL3ENSG00000005812ENST00000355619p.R357Rc.1071T>CSubstitution - coding silent
ACACBENSG00000076555ENST00000377848p.L1701Mc.5101C>ASubstitution - Missense
KIAA0226LENSG00000102445ENST00000322896p.S44Yc.131C>ASubstitution - Missense
ZNF385AENSG00000161642ENST00000551109p.H205Yc.613C>TSubstitution - Missense
SIN3AENSG00000169375ENST00000394947p.H214Rc.641A>GSubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.P680Pc.2040G>ASubstitution - coding silent
FAM47CENSG00000198173ENST00000358047p.P680Pc.2040G>ASubstitution - coding silent
TRAFD1ENSG00000135148ENST00000412615p.A507Tc.1519G>ASubstitution - Missense
DOC2AENSG00000149927ENST00000350119p.P64fs*27c.191delCDeletion - Frameshift
NLKENSG00000087095ENST00000407008p.F192fs*30c.570delTDeletion - Frameshift
TBX4ENSG00000121075ENST00000240335p.P371fs*8c.1106delCDeletion - Frameshift
NEK1ENSG00000137601ENST00000507142p.V881fs*8c.2640delADeletion - Frameshift
NUPL2ENSG00000136243ENST00000258742p.G71fs*51c.206delGDeletion - Frameshift
WDR13ENSG00000101940ENST00000376729p.P48fs*8c.138delCDeletion - Frameshift
EVA1AENSG00000115363ENST00000393913p.A115Vc.344C>TSubstitution - Missense
ZNF226ENSG00000167380ENST00000454662p.K800fs*3c.2393delADeletion - Frameshift
HRNRENSG00000197915ENST00000368801p.G855Sc.2563G>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000449981p.V2154Ac.6461T>CSubstitution - Missense
LAMB4ENSG00000091128ENST00000388780p.C788Fc.2363G>TSubstitution - Missense
PNPLA7ENSG00000130653ENST00000406427p.S321Sc.963C>TSubstitution - coding silent
NUP214ENSG00000126883ENST00000451030p.P1592Sc.4774C>TSubstitution - Missense
TSHZ1ENSG00000179981ENST00000580243p.Y404Cc.1211A>GSubstitution - Missense
PTPRMENSG00000173482ENST00000400060p.G3Gc.9A>GSubstitution - coding silent
DNAH17ENSG00000187775ENST00000389840p.R1515Cc.4543C>TSubstitution - Missense
TENM2ENSG00000145934ENST00000545108p.L1775Lc.5323C>TSubstitution - coding silent
ATXN2LENSG00000168488ENST00000340394p.G234fs*33c.696delGDeletion - Frameshift
FCRL5ENSG00000143297ENST00000356953p.A821Ac.2463C>TSubstitution - coding silent
GRIK3ENSG00000163873ENST00000373093p.T769Tc.2307G>ASubstitution - coding silent
GCKENSG00000106633ENST00000395796p.A258Tc.772G>ASubstitution - Missense
P2RX3ENSG00000109991ENST00000263314p.R304Cc.910C>TSubstitution - Missense
NXF1ENSG00000162231ENST00000531709p.R91Hc.272G>ASubstitution - Missense
ENST00000458043_v65p.?c.4395+2T>CUnknown
ST6GALNAC6ENSG00000160408ENST00000373146p.R23Cc.67C>TSubstitution - Missense
NAIF1ENSG00000171169ENST00000373078p.R221Pc.662G>CSubstitution - Missense
TSNARE1ENSG00000171045ENST00000307180p.G4Rc.10G>ASubstitution - Missense
DHX38ENSG00000140829ENST00000268482p.Y145Cc.434A>GSubstitution - Missense
NR0B1ENSG00000169297ENST00000378970p.F364Vc.1090T>GSubstitution - Missense
ZC3H6ENSG00000188177ENST00000409871p.G1104Rc.3310G>ASubstitution - Missense
TET3ENSG00000187605ENST00000409262p.R899*c.2695C>TSubstitution - Nonsense
CCNL1ENSG00000163660ENST00000295926p.?c.1133+10C>GUnknown
SCLT1ENSG00000151466ENST00000281142p.K521Rc.1562A>GSubstitution - Missense
CTBP1ENSG00000159692ENST00000290921p.A56Tc.166G>ASubstitution - Missense
AKAP12ENSG00000131016ENST00000402676p.V1177Ic.3529G>ASubstitution - Missense
OPRM1ENSG00000112038ENST00000229768p.I324Vc.970A>GSubstitution - Missense
ZSCAN4ENSG00000180532ENST00000318203p.G304Gc.912A>TSubstitution - coding silent
NLRP5ENSG00000171487ENST00000390649p.K862fs*10c.2583delADeletion - Frameshift
TGOLN2ENSG00000152291ENST00000377386p.?c.1309-4deltUnknown
FILIP1LENSG00000168386ENST00000331335p.P882Pc.2646C>GSubstitution - coding silent
ACOX3ENSG00000087008ENST00000356406p.A402Tc.1204G>ASubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.P587Pc.1761C>ASubstitution - coding silent
FAM47CENSG00000198173ENST00000358047p.P598Pc.1794C>TSubstitution - coding silent
NM_032546.2p.E323Kc.967G>ASubstitution - Missense
THOC5ENSG00000100296ENST00000397871p.P665Hc.1994C>ASubstitution - Missense
IGHV1OR21-1ENSG00000169861ENST00000302092p.T77Kc.230C>ASubstitution - Missense
NRROSENSG00000174004ENST00000328557p.?c.108+6T>CUnknown
NRROSENSG00000174004ENST00000328557p.H129Hc.387C>TSubstitution - coding silent
ENST00000405167p.S3738Fc.11213C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T3204Tc.9612C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.P3040Pc.9120G>ASubstitution - coding silent
HSPD1ENSG00000144381ENST00000388968p.I174Fc.520A>TSubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.N650Dc.1948A>GSubstitution - Missense
GDAP1ENSG00000104381ENST00000220822p.E7Ec.21G>ASubstitution - coding silent
EPS8L1ENSG00000131037ENST00000245618p.D361Vc.1082A>TSubstitution - Missense
TRRAPENSG00000196367ENST00000355540p.S2640Nc.7919G>ASubstitution - Missense
LRRC24ENSG00000254402ENST00000529415p.W218*c.654G>ASubstitution - Nonsense
EPHA3ENSG00000044524ENST00000452448p.?c.1306+4A>TUnknown
NM_014815.2p.L736Lc.2206C>TSubstitution - coding silent
CCR7ENSG00000126353ENST00000246657p.D35Nc.103G>ASubstitution - Missense
RGS12ENSG00000159788ENST00000344733p.E1154Gc.3461A>GSubstitution - Missense
PYCR1ENSG00000183010ENST00000329875p.G304Gc.912C>TSubstitution - coding silent
B4GALT6ENSG00000118276ENST00000306851p.T59fs*2c.175delADeletion - Frameshift
FASNENSG00000169710ENST00000306749p.R80Lc.239G>TSubstitution - Missense
CD7ENSG00000173762ENST00000312648p.S226Sc.678G>ASubstitution - coding silent
TRMT1ENSG00000104907ENST00000357720p.Q619Pc.1856A>CSubstitution - Missense
TNFRSF10BENSG00000120889ENST00000276431p.R115Cc.343C>TSubstitution - Missense
TSR1ENSG00000167721ENST00000301364p.Q74Qc.222G>ASubstitution - coding silent
SOGA1ENSG00000149639ENST00000237536p.T1243Tc.3729G>ASubstitution - coding silent
ARFGEF2ENSG00000124198ENST00000371917p.N1472Nc.4416C>TSubstitution - coding silent
CADPS2ENSG00000081803ENST00000449022p.D1100Gc.3299A>GSubstitution - Missense
LINGO2ENSG00000174482ENST00000379992p.V543Lc.1627G>CSubstitution - Missense
SPATA31A2ENSG00000204848ENST00000456183p.P1106fs*13c.3313delCDeletion - Frameshift
LRRC4ENSG00000128594ENST00000249363p.A535Tc.1603G>ASubstitution - Missense
MCMDC2ENSG00000178460ENST00000422365p.V367Ac.1100T>CSubstitution - Missense
XM_043653.9p.G367fs*40c.1096delGDeletion - Frameshift
FBF1ENSG00000188878ENST00000319129p.?c.434-7C>TUnknown
TTNENSG00000155657ENST00000359218p.L1705Pc.5114T>CSubstitution - Missense
CWC22ENSG00000163510ENST00000410053p.?c.1147+9G>AUnknown
HCN2ENSG00000099822ENST00000251287p.T654Tc.1962G>ASubstitution - coding silent
POLRMTENSG00000099821ENST00000588649p.D854Nc.2560G>ASubstitution - Missense
RIN2ENSG00000132669ENST00000255006p.P358fs*9c.1063_1064insCInsertion - Frameshift
KAT7ENSG00000136504ENST00000259021p.P188Pc.564A>GSubstitution - coding silent
RALGAPA2ENSG00000188559ENST00000202677p.V1029Ic.3085G>ASubstitution - Missense
SAMD4AENSG00000020577ENST00000357634p.S398fs*116c.1190_1191insGInsertion - Frameshift
JKAMPENSG00000050130ENST00000261247p.V153Ac.458T>CSubstitution - Missense
CILPENSG00000138615ENST00000261883p.I1028Ic.3084C>TSubstitution - coding silent
ATP11AENSG00000068650ENST00000375645p.T693Tc.2079G>ASubstitution - coding silent
ABHD13ENSG00000139826ENST00000375898p.P294fs*26c.875delTDeletion - Frameshift
NM_014363.3p.R2901Hc.8702G>ASubstitution - Missense
FOXM1ENSG00000111206ENST00000342628p.P528Pc.1584G>ASubstitution - coding silent
CACNA1CENSG00000151067ENST00000347598p.A752Vc.2255C>TSubstitution - Missense
TFPIENSG00000003436ENST00000392365p.P200Pc.600G>ASubstitution - coding silent
EXTL3ENSG00000012232ENST00000220562p.V79Mc.235G>ASubstitution - Missense
ZNF502ENSG00000196653ENST00000296091p.R194Hc.581G>ASubstitution - Missense
GAL3ST4ENSG00000197093ENST00000360039p.S77Fc.230C>TSubstitution - Missense
PRRC2CENSG00000117523ENST00000392078p.A117Ac.351A>TSubstitution - coding silent
LIG3ENSG00000005156ENST00000378526p.D431Dc.1293C>TSubstitution - coding silent
RGL2ENSG00000237441ENST00000444031p.T67Tc.201C>TSubstitution - coding silent
TRPA1ENSG00000104321ENST00000262209p.V942Ac.2825T>CSubstitution - Missense
PCSK5ENSG00000099139ENST00000424854p.?c.3359-8G>AUnknown
TRPC1ENSG00000144935ENST00000476941p.K639Ic.1916A>TSubstitution - Missense
CLTCL1ENSG00000070371ENST00000427926p.V1633Mc.4897G>ASubstitution - Missense
DRC1ENSG00000157856ENST00000439066p.?c.268-1G>TUnknown
MEI1ENSG00000167077ENST00000540880p.R117Cc.349C>TSubstitution - Missense
MYCBPAPENSG00000136449ENST00000436259p.F514Ic.1540T>ASubstitution - Missense
QKIENSG00000112531ENST00000453779p.K134fs*14c.394delADeletion - Frameshift
ARHGAP22ENSG00000128805ENST00000417247p.S592fs*3c.1774delTDeletion - Frameshift
B3GALT5ENSG00000183778ENST00000380620p.D306Dc.918T>CSubstitution - coding silent
CD1EENSG00000158488ENST00000434258p.R284Qc.851G>ASubstitution - Missense
MPLENSG00000117400ENST00000413998p.P372Tc.1114C>ASubstitution - Missense
LRP2ENSG00000081479ENST00000263816p.W239Rc.715T>ASubstitution - Missense
KNDC1ENSG00000171798ENST00000368572p.A1720Tc.5158G>ASubstitution - Missense
OR8H1ENSG00000181693ENST00000313022p.Y131Cc.392A>GSubstitution - Missense
ENST00000398118p.L266Lc.798C>TSubstitution - coding silent
CLCN2ENSG00000114859ENST00000265593p.V248fs*94c.742delGDeletion - Frameshift
ALG3ENSG00000214160ENST00000445626p.R74Hc.221G>ASubstitution - Missense
HES1ENSG00000114315ENST00000232424p.D103Yc.307G>TSubstitution - Missense
PLA2R1ENSG00000153246ENST00000283243p.R114Qc.341G>ASubstitution - Missense
NM_022372.2p.R117Qc.350G>ASubstitution - Missense
MEGF8ENSG00000105429ENST00000334370p.D2093Hc.6277G>CSubstitution - Missense
NIM1KENSG00000177453ENST00000326035p.G81Rc.241G>ASubstitution - Missense
SLITRK4ENSG00000179542ENST00000381779p.Q367*c.1099C>TSubstitution - Nonsense
ENSG00000187905ENST00000342608p.V301Ac.902T>CSubstitution - Missense
TOP3BENSG00000100038ENST00000357179p.A576Ac.1728C>TSubstitution - coding silent
GUCD1ENSG00000138867ENST00000407471p.A72Tc.214G>ASubstitution - Missense
PTPRN2ENSG00000155093ENST00000404321p.R242Wc.724C>TSubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.S965Sc.2895T>CSubstitution - coding silent
EGFRENSG00000146648ENST00000275493p.V1200Vc.3600C>TSubstitution - coding silent
C6orf136ENSG00000204564ENST00000293604p.H96Hc.288C>TSubstitution - coding silent
CDK13ENSG00000065883ENST00000181839p.R1508_G1509delRGc.4507_4512delGGCAGADeletion - In frame
ATP2B3ENSG00000067842ENST00000263519p.R625Lc.1874G>TSubstitution - Missense
ATP2B3ENSG00000067842ENST00000370186p.R611Lc.1832G>TSubstitution - Missense
PCDHA4ENSG00000204967ENST00000356878p.G574Gc.1722T>CSubstitution - coding silent
RP1L1ENSG00000183638ENST00000382483p.C1161Cc.3483T>CSubstitution - coding silent
GIPC3ENSG00000179855ENST00000322315p.?c.787+9C>TUnknown
NPY2RENSG00000185149ENST00000329476p.S354Tc.1060T>ASubstitution - Missense
TOB1ENSG00000141232ENST00000499247p.S285Nc.854G>ASubstitution - Missense
C17orf104ENSG00000180336ENST00000409122p.S529Rc.1587C>ASubstitution - Missense
FCN2ENSG00000160339ENST00000291744p.D107Nc.319G>ASubstitution - Missense
RALGDSENSG00000160271ENST00000372062p.F563Yc.1688T>ASubstitution - Missense
DDX43ENSG00000080007ENST00000370336p.N161Dc.481A>GSubstitution - Missense
SORBS2ENSG00000154556ENST00000448662p.E605fs*>57c.1813delGDeletion - Frameshift
CHKBENSG00000100288ENST00000406938p.D258Nc.772G>ASubstitution - Missense
SBF1ENSG00000100241ENST00000380817p.V869Ac.2606T>CSubstitution - Missense
NAIPENSG00000249437ENST00000517649p.T194Mc.581C>TSubstitution - Missense
CDH7ENSG00000081138ENST00000323011p.Y653Cc.1958A>GSubstitution - Missense
SCOCENSG00000153130ENST00000394201p.V134Ic.400G>ASubstitution - Missense
CRTC1ENSG00000105662ENST00000338797p.S588fs*4c.1753_1754insCInsertion - Frameshift
SCAMP4ENSG00000227500ENST00000316097p.?c.8-2A>GUnknown
PRR5ENSG00000186654ENST00000432186p.V117Mc.349G>ASubstitution - Missense
IQSEC1ENSG00000144711ENST00000429247p.D220Dc.660C>TSubstitution - coding silent
COL6A6ENSG00000206384ENST00000358511p.M177Ic.531G>TSubstitution - Missense
EML6ENSG00000214595ENST00000356458p.S1538Nc.4613G>ASubstitution - Missense
NYAP1ENSG00000166924ENST00000300179p.R166*c.496C>TSubstitution - Nonsense
SUN1ENSG00000164828ENST00000401592p.F357Lc.1069T>CSubstitution - Missense
MYO1BENSG00000128641ENST00000392318p.T569Tc.1707A>GSubstitution - coding silent
DCAF12L1ENSG00000198889ENST00000371126p.R49Cc.145C>TSubstitution - Missense
NM_003685.1p.L389Lc.1167C>TSubstitution - coding silent
NM_003685.1p.I385Tc.1154T>CSubstitution - Missense
DENND1CENSG00000205744ENST00000381480p.L207Lc.621G>ASubstitution - coding silent
TCEAL6ENSG00000204071ENST00000372773p.S135Rc.405C>ASubstitution - Missense
SU_WNK2p.A2160Tc.6478G>ASubstitution - Missense
ARID1AENSG00000117713ENST00000324856p.R1845Qc.5534G>ASubstitution - Missense
CMIPENSG00000153815ENST00000539778p.R80Hc.239G>ASubstitution - Missense
FAM179BENSG00000198718ENST00000361577p.G467Gc.1401A>GSubstitution - coding silent
USP24ENSG00000162402ENST00000294383p.L1411Lc.4233G>ASubstitution - coding silent
MDGA2ENSG00000139915ENST00000399232p.T508Ac.1522A>GSubstitution - Missense
SYNE3ENSG00000176438ENST00000334258p.N615Sc.1844A>GSubstitution - Missense
SPTBENSG00000070182ENST00000389722p.A705Vc.2114C>TSubstitution - Missense
DACT1ENSG00000165617ENST00000335867p.V739Ac.2216T>CSubstitution - Missense
PRDM2ENSG00000116731ENST00000235372p.S421Sc.1263C>TSubstitution - coding silent
TRIM49CENSG00000204449ENST00000448984p.E12fs*43c.29_30insGInsertion - Frameshift
ENST00000322367p.N439Nc.1317C>TSubstitution - coding silent
ENST00000266524p.W753Cc.2259G>TSubstitution - Missense
C11orf1ENSG00000137720ENST00000260276p.C57Fc.170G>TSubstitution - Missense
SLC1A2ENSG00000110436ENST00000278379p.V277Ic.829G>ASubstitution - Missense
ARMC4ENSG00000169126ENST00000305242p.?c.2495+2T>CUnknown
HMCN1ENSG00000143341ENST00000271588p.S941Gc.2821A>GSubstitution - Missense
LRRC23ENSG00000010626ENST00000323702p.L48fs*5c.137delCDeletion - Frameshift
NM_005933.1p.A1122Dc.3365C>ASubstitution - Missense
HINFPENSG00000172273ENST00000350777p.G110Gc.330C>TSubstitution - coding silent
CDC42BPGENSG00000171219ENST00000342711p.R1455Qc.4364G>ASubstitution - Missense
UBR1ENSG00000159459ENST00000290650p.Y834Hc.2500T>CSubstitution - Missense
CA14ENSG00000118298ENST00000369111p.G161Cc.481G>TSubstitution - Missense
SETDB1ENSG00000143379ENST00000271640p.Q470fs*4c.1402_1403insCInsertion - Frameshift
ENST00000450802_v68p.?c.1131+4C>TUnknown
CSMD2ENSG00000121904ENST00000241312p.L855Fc.2563C>TSubstitution - Missense
OTOGENSG00000188162ENST00000399397p.R64Cc.190C>TSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.I1611Kc.4832T>ASubstitution - Missense
TFB2MENSG00000162851ENST00000366514p.L211Vc.631T>GSubstitution - Missense
CNNM2ENSG00000148842ENST00000369875p.N425Nc.1275C>TSubstitution - coding silent
XM_371214.3p.P542Pc.1626G>ASubstitution - coding silent
PLEKHA1ENSG00000107679ENST00000368990p.S249Sc.747C>TSubstitution - coding silent
SU_DYRK4p.M719Lc.2155A>TSubstitution - Missense
FANCIENSG00000140525ENST00000310775p.I658Mc.1974C>GSubstitution - Missense
PSME1ENSG00000092010ENST00000206451p.Y209Cc.626A>GSubstitution - Missense
ARHGEF40ENSG00000165801ENST00000298694p.C1158Cc.3474C>TSubstitution - coding silent
FGF14ENSG00000102466ENST00000376143p.R207*c.619C>TSubstitution - Nonsense
OR52K1ENSG00000196778ENST00000307632p.A154Ac.462T>GSubstitution - coding silent
TMEM194AENSG00000166881ENST00000379391p.?c.128-4A>TUnknown
KMT2DENSG00000167548ENST00000301067p.I5232Ic.15696C>TSubstitution - coding silent
AAASENSG00000094914ENST00000209873p.?c.996+8G>TUnknown
COG6ENSG00000133103ENST00000455146p.H456Rc.1367A>GSubstitution - Missense
WAPALENSG00000062650ENST00000298767p.E65Ec.195A>GSubstitution - coding silent
IQGAP3ENSG00000183856ENST00000361170p.R151Qc.452G>ASubstitution - Missense
SFRP5ENSG00000120057ENST00000266066p.A133Ac.399C>TSubstitution - coding silent
RAD9BENSG00000151164ENST00000392672p.R49Wc.145C>TSubstitution - Missense
PCDH17ENSG00000118946ENST00000377918p.A580Vc.1739C>TSubstitution - Missense
ACACBENSG00000076555ENST00000543201p.L367Mc.1099C>ASubstitution - Missense
RASSF5ENSG00000136653ENST00000355294p.T220Tc.660G>ASubstitution - coding silent
ZNF407ENSG00000215421ENST00000299687p.K292fs*20c.871delADeletion - Frameshift
SMAD9ENSG00000120693ENST00000379826p.R94Rc.282C>TSubstitution - coding silent
USP49ENSG00000164663ENST00000373006p.T313Tc.939G>ASubstitution - coding silent
EDNRBENSG00000136160ENST00000446573p.Y293fs*3c.877delTDeletion - Frameshift
UBR3ENSG00000144357ENST00000392632p.V22fs*85c.58delADeletion - Frameshift
CACNA1CENSG00000151067ENST00000344100p.R1697Cc.5089C>TSubstitution - Missense
DNAAF2ENSG00000165506ENST00000298292p.S450Ic.1349G>TSubstitution - Missense
ENST00000357018p.L343fs*10c.1027delCDeletion - Frameshift
ENST00000307063_v68p.K334fs*25c.1001delADeletion - Frameshift
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
TRIM40ENSG00000204614ENST00000307859p.L176Lc.526C>TSubstitution - coding silent
OR1G1ENSG00000183024ENST00000328890p.R308Wc.922C>TSubstitution - Missense
AHI1ENSG00000135541ENST00000367800p.D666Ec.1998T>ASubstitution - Missense
RAB11FIP4ENSG00000131242ENST00000325874p.R493Wc.1477C>TSubstitution - Missense
AOC1ENSG00000002726ENST00000360937p.I509Mc.1527A>GSubstitution - Missense
PPP2R2BENSG00000156475ENST00000394409p.T87Mc.260C>TSubstitution - Missense
RALGDSENSG00000160271ENST00000542690p.F663Yc.1988T>ASubstitution - Missense
PCDHGB6ENSG00000253305ENST00000520790p.S231Yc.692C>ASubstitution - Missense
SLC17A5ENSG00000119899ENST00000355773p.F469fs*>27c.1407delTDeletion - Frameshift
SORBS2ENSG00000154556ENST00000393528p.E610fs*>57c.1828delGDeletion - Frameshift
SLC12A2ENSG00000064651ENST00000262461p.A377Tc.1129G>ASubstitution - Missense
DMXL1ENSG00000172869ENST00000311085p.P2547Pc.7641A>GSubstitution - coding silent
C17orf112ENSG00000227011ENST00000441889p.T8Tc.24C>ASubstitution - coding silent
ENST00000317726p.V87Ic.259G>ASubstitution - Missense
RFPL4BENSG00000251258ENST00000441065p.T73Sc.217A>TSubstitution - Missense
FOXRED2ENSG00000100350ENST00000397223p.R84Qc.251G>ASubstitution - Missense
CCNT2ENSG00000082258ENST00000264157p.P595Pc.1785A>GSubstitution - coding silent
IL21RENSG00000103522ENST00000395754p.T27Tc.81C>TSubstitution - coding silent
CD2BP2ENSG00000169217ENST00000305596p.V31Mc.91G>ASubstitution - Missense
ATG7ENSG00000197548ENST00000354449p.A238Tc.712G>ASubstitution - Missense
SLC4A3ENSG00000114923ENST00000273063p.A491Ac.1473G>ASubstitution - coding silent
LTV1ENSG00000135521ENST00000367576p.A433Tc.1297G>ASubstitution - Missense
ZNF645ENSG00000175809ENST00000323684p.D173Gc.518A>GSubstitution - Missense
PIGAENSG00000165195ENST00000333590p.L271Lc.811T>CSubstitution - coding silent
POLA1ENSG00000101868ENST00000379059p.K888Tc.2663A>CSubstitution - Missense
ENST00000378682p.A1689Ac.5067C>TSubstitution - coding silent
SCN5AENSG00000183873ENST00000413689p.F1679Fc.5037C>TSubstitution - coding silent
TRANK1ENSG00000168016ENST00000301807p.R2360Wc.7078C>TSubstitution - Missense
CDH12ENSG00000154162ENST00000382254p.Y389Cc.1166A>GSubstitution - Missense
C7orf31ENSG00000153790ENST00000283905p.P454Sc.1360C>TSubstitution - Missense
TIAM2ENSG00000146426ENST00000318981p.R236Qc.707G>ASubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.A1601Vc.4802C>TSubstitution - Missense
ZNF816ENSG00000180257ENST00000357666p.R27fs*39c.74_75insTInsertion - Frameshift
COL9A3ENSG00000092758ENST00000343916p.?c.1401+5G>AUnknown
MUC4ENSG00000145113ENST00000463781p.P2994Lc.8981C>TSubstitution - Missense
CRYBG3ENSG00000080200ENST00000182096p.A70Tc.208G>ASubstitution - Missense
KAT2BENSG00000114166ENST00000263754p.S741Sc.2223C>TSubstitution - coding silent
YIPF4ENSG00000119820ENST00000238831p.G202Gc.606T>CSubstitution - coding silent
CYP20A1ENSG00000119004ENST00000356079p.Y21Cc.62A>GSubstitution - Missense
MYH3ENSG00000109063ENST00000226209p.Q1508*c.4522C>TSubstitution - Nonsense
VPS9D1ENSG00000075399ENST00000389386p.S619Ic.1856G>TSubstitution - Missense
CTIFENSG00000134030ENST00000256413p.T289Tc.867C>TSubstitution - coding silent
SLC25A35ENSG00000125434ENST00000380067p.?c.861-1G>AUnknown
CCDC71ENSG00000177352ENST00000321895p.A12fs*26c.33delADeletion - Frameshift
GRM2ENSG00000164082ENST00000395052p.R247Hc.740G>ASubstitution - Missense
CDKAL1ENSG00000145996ENST00000378610p.R335fs*7c.1003_1004insAInsertion - Frameshift
NCAPHENSG00000121152ENST00000240423p.V33Lc.97G>TSubstitution - Missense
SYNRGENSG00000006114ENST00000346661p.K125Kc.375A>GSubstitution - coding silent
DDX52ENSG00000141141ENST00000349699p.I437Ic.1311T>ASubstitution - coding silent
CWC25ENSG00000108296ENST00000225428p.R90Hc.269G>ASubstitution - Missense
KIAA1239ENSG00000174145ENST00000309447p.Q818Pc.2453A>CSubstitution - Missense
ADAMTS5ENSG00000154736ENST00000284987p.R312Lc.935G>TSubstitution - Missense
KCTD8ENSG00000183783ENST00000360029p.I450fs*>24c.1348delADeletion - Frameshift
THRAENSG00000126351ENST00000394121p.S377Lc.1130C>TSubstitution - Missense
IFNAR2ENSG00000159110ENST00000382241p.S259fs*17c.775_776insAInsertion - Frameshift
UTS2RENSG00000181408ENST00000313135p.G337fs*>53c.1006delGDeletion - Frameshift
MYOM2ENSG00000036448ENST00000262113p.R318Rc.954C>TSubstitution - coding silent
RBM12BENSG00000183808ENST00000399300p.P774Lc.2321C>TSubstitution - Missense
KIF13BENSG00000197892ENST00000524189p.C484Cc.1452C>TSubstitution - coding silent
IL1RAPL2ENSG00000189108ENST00000372582p.I191Kc.572T>ASubstitution - Missense
CBFA2T2ENSG00000078699ENST00000375279p.C531Cc.1593C>TSubstitution - coding silent
ATRNENSG00000088812ENST00000262919p.S505Gc.1513A>GSubstitution - Missense
TTNENSG00000155657ENST00000360870p.T5198Ac.15592A>GSubstitution - Missense
DDIT4ENSG00000168209ENST00000307365p.P87Hc.260C>ASubstitution - Missense
KIF26BENSG00000162849ENST00000407071p.G326Rc.976G>ASubstitution - Missense
NR1H4ENSG00000012504ENST00000548884p.?c.1181-2_1182delagATUnknown
CHST11ENSG00000171310ENST00000303694p.V29Gc.86T>GSubstitution - Missense
ACTRT2ENSG00000169717ENST00000378404p.P335Pc.1005C>TSubstitution - coding silent
GLRX3ENSG00000108010ENST00000368644p.C146fs*28c.430_431insCInsertion - Frameshift
TTC40ENSG00000171811ENST00000368586p.Q138Rc.413A>GSubstitution - Missense
NXF1ENSG00000162231ENST00000294172p.R91Hc.272G>ASubstitution - Missense
CLCF1ENSG00000175505ENST00000312438p.R55Hc.164G>ASubstitution - Missense
ADRA2AENSG00000150594ENST00000280155p.A111Ac.333G>ASubstitution - coding silent
AHCTF1ENSG00000153207ENST00000391829p.R35Cc.103C>TSubstitution - Missense
ENST00000336486p.Y294fs*4c.874delCDeletion - Frameshift
MGPENSG00000111341ENST00000539261p.T17Ac.49A>GSubstitution - Missense
PKNOX2ENSG00000165495ENST00000298282p.I109Tc.326T>CSubstitution - Missense
INSRRENSG00000027644ENST00000368195p.G1208Gc.3624C>TSubstitution - coding silent
OR52K1ENSG00000196778ENST00000307632p.R265Hc.794G>ASubstitution - Missense
MYO9AENSG00000066933ENST00000356056p.R1036Rc.3106A>CSubstitution - coding silent
LMO7ENSG00000136153ENST00000357063p.S991Pc.2971T>CSubstitution - Missense
DIAPH3ENSG00000139734ENST00000400324p.V465Ac.1394T>CSubstitution - Missense
CREMENSG00000095794ENST00000337656p.V221Vc.663G>TSubstitution - coding silent
CREMENSG00000095794ENST00000361599p.V191Vc.573G>TSubstitution - coding silent
CREMENSG00000095794ENST00000490511p.V34Vc.102G>TSubstitution - coding silent
GJD4ENSG00000177291ENST00000321660p.F163Lc.487T>CSubstitution - Missense
ENST00000325084p.L343fs*10c.1027delCDeletion - Frameshift
GTDC1ENSG00000121964ENST00000392869p.F302fs*4c.906delTDeletion - Frameshift
NEU1ENSG00000204386ENST00000375631p.R280Qc.839G>ASubstitution - Missense
CPB2ENSG00000080618ENST00000181383p.F71fs*2c.213delTDeletion - Frameshift
RNF31ENSG00000092098ENST00000324103p.K458fs*34c.1366delCDeletion - Frameshift
ATAD3BENSG00000160072ENST00000308647p.Y604Hc.1810T>CSubstitution - Missense
MADDENSG00000110514ENST00000311027p.G263Gc.789G>ASubstitution - coding silent
DCXENSG00000077279ENST00000338081p.?c.1174+7A>GUnknown
SMG6ENSG00000070366ENST00000263073p.A613Ac.1839G>ASubstitution - coding silent
PANK4ENSG00000157881ENST00000378466p.L159Fc.475C>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000436393p.R618*c.1852C>TSubstitution - Nonsense
POGKENSG00000143157ENST00000367875p.N230fs*8c.683delADeletion - Frameshift
AGERENSG00000204305ENST00000375067p.V241Ic.721G>ASubstitution - Missense
ENST00000379700p.D150Yc.448G>TSubstitution - Missense
CCDC180ENSG00000197816ENST00000411667p.K770Rc.2309A>GSubstitution - Missense
OVCH1ENSG00000187950ENST00000318184p.A576Tc.1726G>ASubstitution - Missense
PROM1ENSG00000007062ENST00000543373p.S815Lc.2444C>TSubstitution - Missense
ADAM19ENSG00000135074ENST00000394020p.?c.2247-8G>AUnknown
AIF1ENSG00000204472ENST00000337917p.Q33Qc.99G>ASubstitution - coding silent
ITGAVENSG00000138448ENST00000433736p.R572Qc.1715G>ASubstitution - Missense
NT5DC2ENSG00000168268ENST00000422318p.F520_T521insFc.1556_1557insCTTInsertion - In frame
NBEAENSG00000172915ENST00000400445p.L1915Lc.5745T>CSubstitution - coding silent
ZNF687ENSG00000143373ENST00000368879p.R534Hc.1601G>ASubstitution - Missense
SHC4ENSG00000185634ENST00000396535p.T57Ac.169A>GSubstitution - Missense
ENST00000344936_v70p.?c.1448+9A>TUnknown
BCL6ENSG00000113916ENST00000406870p.S3Sc.9G>TSubstitution - coding silent
ABL1ENSG00000097007ENST00000318560p.V422Vc.1266C>ASubstitution - coding silent
NUP214ENSG00000126883ENST00000359428p.P1591Sc.4771C>TSubstitution - Missense
TATDN1ENSG00000147687ENST00000276692p.G75Gc.225A>GSubstitution - coding silent
TSPAN13ENSG00000106537ENST00000262067p.Q103Rc.308A>GSubstitution - Missense
SULF2ENSG00000196562ENST00000359930p.D693Gc.2078A>GSubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.A1124Tc.3370G>ASubstitution - Missense
SEMG2ENSG00000124157ENST00000372769p.T485Tc.1455G>ASubstitution - coding silent
ZMYND8ENSG00000101040ENST00000461685p.A545Vc.1634C>TSubstitution - Missense
RFX1ENSG00000132005ENST00000254325p.A710Vc.2129C>TSubstitution - Missense
GRIK5ENSG00000105737ENST00000301218p.E176Kc.526G>ASubstitution - Missense
DPCR1ENSG00000168631ENST00000304311p.K21*c.61A>TSubstitution - Nonsense
ITPKCENSG00000086544ENST00000263370p.?c.1849-5G>AUnknown
LZTR1ENSG00000099949ENST00000215739p.?c.401-1delgUnknown
SRPK3ENSG00000184343ENST00000393786p.P510Lc.1529C>TSubstitution - Missense
ZNF746ENSG00000181220ENST00000340622p.G268Rc.802G>ASubstitution - Missense
COL25A1ENSG00000188517ENST00000399132p.R441Mc.1322G>TSubstitution - Missense
SEC24BENSG00000138802ENST00000399100p.V1064Ac.3191T>CSubstitution - Missense
KCNQ2ENSG00000075043ENST00000344425p.P335Pc.1005G>ASubstitution - coding silent
PATZ1ENSG00000100105ENST00000266269p.I363Ic.1089C>ASubstitution - coding silent
FANCD2ENSG00000144554ENST00000419585p.I850Vc.2548A>GSubstitution - Missense
ENSG00000182329ENST00000295844p.R9Qc.26G>ASubstitution - Missense
ENSG00000268500ENST00000429354p.R266Wc.796C>TSubstitution - Missense
HAS1ENSG00000105509ENST00000222115p.R252Wc.754C>TSubstitution - Missense
SPIRE1ENSG00000134278ENST00000309836p.L468Lc.1402T>CSubstitution - coding silent
DTHD1ENSG00000197057ENST00000357504p.R429Rc.1287G>ASubstitution - coding silent
TAS2R3ENSG00000127362ENST00000247879p.I111Ic.333C>TSubstitution - coding silent
MST1RENSG00000164078ENST00000296474p.Q555*c.1663C>TSubstitution - Nonsense
DNAH1ENSG00000114841ENST00000420323p.P2429Sc.7285C>TSubstitution - Missense
ENST00000378381p.?c.1477-2A>GUnknown
ZNF251ENSG00000198169ENST00000292562p.E25Ec.75G>ASubstitution - coding silent
ABCG1ENSG00000160179ENST00000398457p.C14Yc.41G>ASubstitution - Missense
STARD7ENSG00000084090ENST00000337288p.N165Nc.495C>TSubstitution - coding silent
RAD18ENSG00000070950ENST00000264926p.P242Pc.726G>ASubstitution - coding silent
TBCDENSG00000141556ENST00000355528p.R999Qc.2996G>ASubstitution - Missense
AAR2ENSG00000131043ENST00000373932p.P217Tc.649C>ASubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.T1478Tc.4434G>ASubstitution - coding silent
ZNF800ENSG00000048405ENST00000393313p.Y263fs*3c.779_780insAInsertion - Frameshift
TMEM55AENSG00000155099ENST00000285419p.P91Lc.272C>TSubstitution - Missense
ENST00000318252p.G2636Rc.7906G>ASubstitution - Missense
PEBP4ENSG00000134020ENST00000256404p.R183Cc.547C>TSubstitution - Missense
ZNF782ENSG00000196597ENST00000481138p.S295Sc.885C>TSubstitution - coding silent
OAZ1ENSG00000104904ENST00000322297p.L192fs*6c.571delTDeletion - Frameshift
CELF5ENSG00000161082ENST00000292672p.E354Ec.1062G>ASubstitution - coding silent
LILRA2ENSG00000239998ENST00000251376p.Y428Cc.1283A>GSubstitution - Missense
STAT1ENSG00000115415ENST00000361099p.G422Gc.1266T>CSubstitution - coding silent
BARD1ENSG00000138376ENST00000260947p.R322Cc.964C>TSubstitution - Missense
ITGA4ENSG00000115232ENST00000397033p.?c.1695+2T>CUnknown
GTF2F1ENSG00000125651ENST00000394456p.P232Pc.696C>TSubstitution - coding silent
CCDC18ENSG00000122483ENST00000334652p.R1226Rc.3678G>ASubstitution - coding silent
NM_003954p.A67Sc.199G>TSubstitution - Missense
CILPENSG00000138615ENST00000261883p.R1164Rc.3492C>TSubstitution - coding silent
SYNE3ENSG00000176438ENST00000334258p.N970Sc.2909A>GSubstitution - Missense
SLC44A3ENSG00000143036ENST00000271227p.C256Cc.768C>TSubstitution - coding silent
PCF11ENSG00000165494ENST00000298281p.A1201Tc.3601G>ASubstitution - Missense
NM_004330.1p.W97*c.291G>ASubstitution - Nonsense
CACNA1CENSG00000151067ENST00000399634p.A752Vc.2255C>TSubstitution - Missense
THBS3ENSG00000169231ENST00000368378p.G148Cc.442G>TSubstitution - Missense
DCST2ENSG00000163354ENST00000368424p.I413Ic.1239C>TSubstitution - coding silent
FDPSENSG00000160752ENST00000368356p.I171delIc.510_512delCATDeletion - In frame
NPAS3ENSG00000151322ENST00000346562p.S589Sc.1767G>ASubstitution - coding silent
NID2ENSG00000087303ENST00000216286p.P822Rc.2465C>GSubstitution - Missense
USP24ENSG00000162402ENST00000294383p.A811Dc.2432C>ASubstitution - Missense
PCSK6ENSG00000140479ENST00000331826p.?c.1411+4C>TUnknown
KCNA10ENSG00000143105ENST00000369771p.A214Tc.640G>ASubstitution - Missense
SIDT2ENSG00000149577ENST00000324225p.D535Dc.1605C>TSubstitution - coding silent
FAT3ENSG00000165323ENST00000409404p.R3276Wc.9826C>TSubstitution - Missense
NM_006312.2p.Q508_Q510delQQQc.1523_1531delAGCAGCAGCDeletion - In frame
MMP17ENSG00000198598ENST00000360564p.T218Tc.654C>TSubstitution - coding silent
ULK1ENSG00000177169ENST00000321867p.I620fs*27c.1852delCDeletion - Frameshift
CRB1ENSG00000134376ENST00000367400p.P73Tc.217C>ASubstitution - Missense
KIAA0430ENSG00000166783ENST00000344181p.A386Tc.1156G>ASubstitution - Missense
FLVCR2ENSG00000119686ENST00000238667p.V181Mc.541G>ASubstitution - Missense
CDH23ENSG00000107736ENST00000398809p.R184Rc.552C>TSubstitution - coding silent
HRNRENSG00000197915ENST00000368801p.R63Qc.188G>ASubstitution - Missense
SPAG17ENSG00000155761ENST00000336338p.T1519Ac.4555A>GSubstitution - Missense
GCN1L1ENSG00000089154ENST00000300648p.?c.5156-3C>TUnknown
NBEAENSG00000172915ENST00000310336p.L1915Lc.5745T>CSubstitution - coding silent
OLFML2BENSG00000162745ENST00000294794p.E484delEc.1452_1454delAGADeletion - In frame
NM_004667.3p.P1563Pc.4689A>GSubstitution - coding silent
COBLENSG00000106078ENST00000395542p.G1230Gc.3690C>TSubstitution - coding silent
MUC12ENSG00000205277ENST00000379442p.W4475Gc.13423T>GSubstitution - Missense
MATN4ENSG00000124159ENST00000372754p.R512Hc.1535G>ASubstitution - Missense
PROCENSG00000115718ENST00000453608p.E384Ec.1152G>ASubstitution - coding silent
ENST00000539533_v68p.R560Hc.1679G>ASubstitution - Missense
LILRA2ENSG00000239998ENST00000251377p.N201Sc.602A>GSubstitution - Missense
FZR1ENSG00000105325ENST00000395095p.R8Cc.22C>TSubstitution - Missense
SEZ6ENSG00000063015ENST00000360295p.T265fs*34c.792delCDeletion - Frameshift
TMEM132DENSG00000151952ENST00000389441p.L53fs*3c.157delCDeletion - Frameshift
USH2AENSG00000042781ENST00000366943p.T4979Ac.14935A>GSubstitution - Missense
TTC7BENSG00000165914ENST00000357056p.T479Mc.1436C>TSubstitution - Missense
USH2AENSG00000042781ENST00000366942p.R449Cc.1345C>TSubstitution - Missense
BCCIPENSG00000107949ENST00000368759p.?c.850+10T>CUnknown
TRIM21ENSG00000132109ENST00000543625p.R253Mc.758G>TSubstitution - Missense
TRIM49BENSG00000182053ENST00000332682p.P128Rc.383C>GSubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.L1479Fc.4435C>TSubstitution - Missense
DNM1ENSG00000106976ENST00000372923p.?c.236-4G>AUnknown
CCDC173ENSG00000154479ENST00000447353p.A440Tc.1318G>ASubstitution - Missense
PHF20L1ENSG00000129292ENST00000220847p.G726Rc.2176G>ASubstitution - Missense
TGENSG00000042832ENST00000220616p.V1179Mc.3535G>ASubstitution - Missense
IL31RAENSG00000164509ENST00000396836p.N511fs*6c.1526delADeletion - Frameshift
INTS1ENSG00000164880ENST00000389470p.N921Nc.2763C>TSubstitution - coding silent
ZMYND8ENSG00000101040ENST00000536340p.A552Vc.1655C>TSubstitution - Missense
MEGF8ENSG00000105429ENST00000334370p.F426Sc.1277T>CSubstitution - Missense
TBX20ENSG00000164532ENST00000408931p.K8Kc.24G>ASubstitution - coding silent
NM_022835.1p.G852fs*152c.2553delGDeletion - Frameshift
SIRT6ENSG00000077463ENST00000337491p.A53Ac.159C>TSubstitution - coding silent
SLC4A9ENSG00000113073ENST00000230993p.S794fs*65c.2373_2374delGADeletion - Frameshift
PDFENSG00000258429ENST00000288022p.D226Nc.676G>ASubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.P1117Lc.3350C>TSubstitution - Missense
SLFN11ENSG00000172716ENST00000394566p.P70Ac.208C>GSubstitution - Missense
GPR50ENSG00000102195ENST00000218316p.S542Cc.1625C>GSubstitution - Missense
NUB1ENSG00000013374ENST00000566856p.D96fs*17c.279delADeletion - Frameshift
CCDC69ENSG00000198624ENST00000355417p.R231Cc.691C>TSubstitution - Missense
KIRREL2ENSG00000126259ENST00000360202p.A513Ac.1539C>TSubstitution - coding silent
LGI4ENSG00000153902ENST00000310123p.S223Sc.669C>TSubstitution - coding silent
CACTINENSG00000105298ENST00000429344p.E514Ec.1542G>ASubstitution - coding silent
ERP44ENSG00000023318ENST00000262455p.L17Vc.49C>GSubstitution - Missense
CCDC149ENSG00000181982ENST00000504487p.N444Sc.1331A>GSubstitution - Missense
SORBS2ENSG00000154556ENST00000418609p.E948fs*>57c.2842delGDeletion - Frameshift
PCDH19ENSG00000165194ENST00000373034p.G429Sc.1285G>ASubstitution - Missense
NM_001527.1p.R372Rc.1116C>TSubstitution - coding silent
REXO1ENSG00000079313ENST00000170168p.H119Yc.355C>TSubstitution - Missense
ENST00000313378p.R350Qc.1049G>ASubstitution - Missense
ENST00000315574p.G316Gc.948G>TSubstitution - coding silent
LTFENSG00000012223ENST00000231751p.T141Tc.423C>TSubstitution - coding silent
PRR23BENSG00000184814ENST00000329447p.P237Pc.711G>ASubstitution - coding silent
LCTENSG00000115850ENST00000264162p.?c.805-3C>TUnknown
OTTHUMT00000057224.1p.A62Ac.186C>TSubstitution - coding silent
CEP68ENSG00000011523ENST00000377990p.R29Qc.86G>ASubstitution - Missense
PRR5ENSG00000186654ENST00000336985p.V126Mc.376G>ASubstitution - Missense
TYW1ENSG00000198874ENST00000359626p.R406Hc.1217G>ASubstitution - Missense
NM_001371.1p.V1937Ac.5810T>CSubstitution - Missense
ENST00000357098p.Q153Lc.458A>TSubstitution - Missense
IL1F10ENSG00000136697ENST00000393197p.R66Cc.196C>TSubstitution - Missense
ENST00000378682p.P1621Lc.4862C>TSubstitution - Missense
PLCD4ENSG00000115556ENST00000450993p.Q717*c.2149C>TSubstitution - Nonsense
OPRM1ENSG00000112038ENST00000360422p.I324Vc.970A>GSubstitution - Missense
OTTHUMT00000056248.1p.?c.7410+9_7410+10insAUnknown
TRANK1ENSG00000168016ENST00000301807p.A1100Dc.3299C>ASubstitution - Missense
ENST00000405167p.P2994Lc.8981C>TSubstitution - Missense
NM_024920.3p.L284Lc.852A>GSubstitution - coding silent
FUT10ENSG00000172728ENST00000327671p.V301Ac.902T>CSubstitution - Missense


COSMIC

2 mutations reported
0 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
SF3B1ENSG00000115524ENST00000335508p.N619Kc.1857C>GSubstitution - Missense21995386
FBXW7ENSG00000109670ENST00000281708p.R465Hc.1394G>ASubstitution - Missense17515920