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COLO-679 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1327 mutations reported
516 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
ANKRD30AENSG00000148513ENST00000361713p.G278Ec.833G>ASubstitution - Missense
ANKRD30AENSG00000148513ENST00000602533p.G278Ec.833G>ASubstitution - Missense
OXGR1ENSG00000165621ENST00000298440p.F14Fc.42C>TSubstitution - coding silent
DCTENSG00000080166ENST00000446125p.G165Gc.495C>TSubstitution - coding silent
ENST00000377560_v62p.F1431Fc.4293C>TSubstitution - coding silent
PTPN11ENSG00000179295ENST00000351677p.F341Yc.1022T>ASubstitution - Missense
ENSG00000180574ENST00000322446p.G409Rc.1225G>ASubstitution - Missense
SCAMP5ENSG00000198794ENST00000425597p.V131Ic.391G>ASubstitution - Missense
SCAMP5ENSG00000198794ENST00000361900p.V131Ic.391G>ASubstitution - Missense
PMLENSG00000140464ENST00000435786p.P67Pc.201G>ASubstitution - coding silent
CYP1A1ENSG00000140465ENST00000395048p.?c.1042+3A>GUnknown
NEO1ENSG00000067141ENST00000261908p.G1406Ec.4217G>ASubstitution - Missense
AMHR2ENSG00000135409ENST00000257863p.?c.622-1G>AUnknown
USH2AENSG00000042781ENST00000307340p.E2697Kc.8089G>ASubstitution - Missense
KCNH1ENSG00000143473ENST00000271751p.G531Rc.1591G>ASubstitution - Missense
PIGRENSG00000162896ENST00000356495p.G710Ec.2129G>ASubstitution - Missense
PLEKHN1ENSG00000187583ENST00000379410p.S4Tc.11G>CSubstitution - Missense
KCNF1ENSG00000162975ENST00000295082p.E158Kc.472G>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.E2508Kc.7522G>ASubstitution - Missense
NPY2RENSG00000185149ENST00000329476p.R241Cc.721C>TSubstitution - Missense
OR52B6ENSG00000187747ENST00000345043p.L241Fc.721C>TSubstitution - Missense
CTNND2ENSG00000169862ENST00000304623p.E1209Kc.3625G>ASubstitution - Missense
ITPR1ENSG00000150995ENST00000357086p.E772Kc.2314G>ASubstitution - Missense
ANKRD36ENSG00000135976ENST00000420699p.G4Dc.11G>ASubstitution - Missense
OR1C1ENSG00000221888ENST00000408896p.V117Vc.351G>ASubstitution - coding silent
HIST1H1AENSG00000124610ENST00000244573p.P172Tc.514C>ASubstitution - Missense
NM_144967.2p.A232Ac.696G>ASubstitution - coding silent
SLCO5A1ENSG00000137571ENST00000260126p.F747Fc.2241C>TSubstitution - coding silent
ALDOBENSG00000136872ENST00000374855p.R4Qc.11G>ASubstitution - Missense
ENST00000265403_v61p.L62Ic.184C>ASubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.R999Cc.2995C>TSubstitution - Missense
ZNF627ENSG00000198551ENST00000361113p.S377Lc.1130C>TSubstitution - Missense
PCDHA13ENSG00000239389ENST00000289272p.E317Kc.949G>ASubstitution - Missense
PLA2G7ENSG00000146070ENST00000274793p.P57Lc.170C>TSubstitution - Missense
KIAA0368ENSG00000136813ENST00000259335p.R1604Qc.4811G>ASubstitution - Missense
LYSTENSG00000143669ENST00000389793p.G3424*c.10270G>TSubstitution - Nonsense
PMLENSG00000140464ENST00000268058p.P67Pc.201G>ASubstitution - coding silent
ACOX3ENSG00000087008ENST00000356406p.F260Fc.780C>TSubstitution - coding silent
CPNE6ENSG00000100884ENST00000397016p.E259Kc.775G>ASubstitution - Missense
HCN1ENSG00000164588ENST00000303230p.P852Pc.2556G>ASubstitution - coding silent
SOX7ENSG00000171056ENST00000304501p.F332Fc.996C>TSubstitution - coding silent
PLCZ1ENSG00000139151ENST00000266505p.R65Qc.194G>ASubstitution - Missense
EZH2ENSG00000106462ENST00000320356p.P132Sc.394C>TSubstitution - Missense
UGT2B10ENSG00000109181ENST00000265403p.L62Ic.184C>ASubstitution - Missense
MAP3K5ENSG00000197442ENST00000359015p.R256Cc.766C>TSubstitution - Missense
ADAM23ENSG00000114948ENST00000264377p.F761Fc.2283C>TSubstitution - coding silent
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense
KIAA1522ENSG00000162522ENST00000373480p.?c.3086-4C>TUnknown
RABGAP1LENSG00000152061ENST00000251507p.P269Lc.806C>TSubstitution - Missense
RABGAP1LENSG00000152061ENST00000251507p.P269Pc.807C>TSubstitution - coding silent
DCLK1ENSG00000133083ENST00000255448p.P585Sc.1753C>TSubstitution - Missense
DCLK1ENSG00000133083ENST00000379893p.P278Sc.832C>TSubstitution - Missense
DCLK1ENSG00000133083ENST00000255448p.P585Sc.1753C>TSubstitution - Missense
ENST00000340225p.E63Kc.187G>ASubstitution - Missense
GTF3AENSG00000122034ENST00000381140p.P330Tc.988C>ASubstitution - Missense
MTUS2ENSG00000132938ENST00000431530p.T405Tc.1215C>TSubstitution - coding silent
ADAMTS20ENSG00000173157ENST00000389420p.P1751Ac.5251C>GSubstitution - Missense
C12orf40ENSG00000180116ENST00000324616p.?c.63+6G>AUnknown
STAB2ENSG00000136011ENST00000388887p.Y395Yc.1185T>CSubstitution - coding silent
UHRF1BP1LENSG00000111647ENST00000279907p.P276Sc.826C>TSubstitution - Missense
UHRF1BP1LENSG00000111647ENST00000356828p.P276Sc.826C>TSubstitution - Missense
WDR96ENSG00000197748ENST00000357060p.?c.4832-6G>AUnknown
SORCS3ENSG00000156395ENST00000369701p.A411Tc.1231G>ASubstitution - Missense
SORCS1ENSG00000108018ENST00000263054p.R1144Qc.3431G>ASubstitution - Missense
FGFR2ENSG00000066468ENST00000457416p.D558Nc.1672G>ASubstitution - Missense
FGFR2ENSG00000066468ENST00000357555p.D468Nc.1402G>ASubstitution - Missense
FGFR2ENSG00000066468ENST00000358487p.D557Nc.1669G>ASubstitution - Missense
FGFR2ENSG00000066468ENST00000351936p.D555Nc.1663G>ASubstitution - Missense
AHCTF1ENSG00000153207ENST00000391829p.W816*c.2447G>ASubstitution - Nonsense
FMN2ENSG00000155816ENST00000319653p.P1224Sc.3670C>TSubstitution - Missense
XM_371214.3p.E381Ec.1143G>ASubstitution - coding silent
ENST00000342887p.E4Kc.10G>ASubstitution - Missense
NEDD1ENSG00000139350ENST00000266742p.H659Yc.1975C>TSubstitution - Missense
WNK1ENSG00000060237ENST00000537687p.S1560Fc.4679C>TSubstitution - Missense
ENST00000341155p.P869Lc.2606C>TSubstitution - Missense
SCGB2A1ENSG00000124939ENST00000244930p.L24Lc.72C>TSubstitution - coding silent
OR5B21ENSG00000198283ENST00000360374p.S115Sc.345C>TSubstitution - coding silent
MYH7ENSG00000092054ENST00000355349p.D587Dc.1761C>TSubstitution - coding silent
SLC7A8ENSG00000092068ENST00000316902p.L368Lc.1102C>TSubstitution - coding silent
OR11G2ENSG00000196832ENST00000357366p.T70Ic.209C>TSubstitution - Missense
TDRD9ENSG00000156414ENST00000409874p.E1271Kc.3811G>ASubstitution - Missense
CYP2E1ENSG00000130649ENST00000252945p.E417Kc.1249G>ASubstitution - Missense
MKI67ENSG00000148773ENST00000368654p.L1896Lc.5688A>GSubstitution - coding silent
MKI67ENSG00000148773ENST00000368654p.K1460Kc.4380G>ASubstitution - coding silent
PPFIBP2ENSG00000166387ENST00000299492p.M45Ic.135G>ASubstitution - Missense
C2CD3ENSG00000168014ENST00000334126p.R1486Gc.4456A>GSubstitution - Missense
RASGRF1ENSG00000058335ENST00000419573p.G614Rc.1840G>ASubstitution - Missense
KRT80ENSG00000167767ENST00000394815p.E349Kc.1045G>ASubstitution - Missense
KRT83ENSG00000170523ENST00000293670p.C462*c.1386C>ASubstitution - Nonsense
RERGLENSG00000111404ENST00000229002p.S61Fc.182C>TSubstitution - Missense
RERGLENSG00000111404ENST00000229002p.S61Fc.182C>TSubstitution - Missense
ENST00000279593p.V97Vc.291G>ASubstitution - coding silent
GUCY2CENSG00000070019ENST00000261170p.E715Kc.2143G>ASubstitution - Missense
PTPROENSG00000151490ENST00000281171p.N287Sc.860A>GSubstitution - Missense
GGPS1ENSG00000152904ENST00000282841p.P77Pc.231A>GSubstitution - coding silent
SU_OBSCN.1p.S2457Fc.7370C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.S2686Fc.8057C>TSubstitution - Missense
SLC2A14ENSG00000173262ENST00000396589p.P409Lc.1226C>TSubstitution - Missense
OR10J1ENSG00000196184ENST00000423932p.Q282*c.844C>TSubstitution - Nonsense
TMEM218ENSG00000150433ENST00000279968p.F91Fc.273C>TSubstitution - coding silent
ENST00000349637p.?c.3980-8C>TUnknown
MUC5BENSG00000117983ENST00000529681p.?c.3971-7C>TUnknown
ENST00000349637p.?c.3980-7C>TUnknown
OR10G6ENSG00000198674ENST00000307002p.G105Sc.313G>ASubstitution - Missense
CYP2C9ENSG00000138109ENST00000260682p.?c.1291+6A>GUnknown
RNLSENSG00000184719ENST00000331772p.L335Lc.1005G>CSubstitution - coding silent
LIPMENSG00000173239ENST00000404743p.L22Lc.66G>TSubstitution - coding silent
BTAF1ENSG00000095564ENST00000265990p.?c.4181+7A>TUnknown
ITIH2ENSG00000151655ENST00000358415p.W832*c.2496G>ASubstitution - Nonsense
PRSS38ENSG00000185888ENST00000366757p.?c.727-9C>TUnknown
ENSG00000150076ENST00000302316p.L249Lc.745C>TSubstitution - coding silent
NINENSG00000100503ENST00000382041p.S1734Gc.5200A>GSubstitution - Missense
NINENSG00000100503ENST00000382041p.S1734Gc.5200A>GSubstitution - Missense
NINENSG00000100503ENST00000245441p.S1734Gc.5200A>GSubstitution - Missense
ZFYVE9ENSG00000157077ENST00000287727p.Q1060Hc.3180G>TSubstitution - Missense
TCEANC2ENSG00000116205ENST00000371331p.A11Ac.33C>GSubstitution - coding silent
CERS2ENSG00000143418ENST00000368954p.T233Ic.698C>TSubstitution - Missense
NOTCH2ENSG00000134250ENST00000256646p.P1418Sc.4252C>TSubstitution - Missense
PRB4ENSG00000230657ENST00000279575p.G97Ec.290G>ASubstitution - Missense
MED13LENSG00000123066ENST00000281928p.F265Fc.795C>TSubstitution - coding silent
C12orf49ENSG00000111412ENST00000261318p.V108Vc.324C>TSubstitution - coding silent
DPH2ENSG00000132768ENST00000255108p.H302Yc.904C>TSubstitution - Missense
PPIEENSG00000084072ENST00000324379p.S138Pc.412T>CSubstitution - Missense
KAT5ENSG00000172977ENST00000341318p.P121Sc.361C>TSubstitution - Missense
KAT5ENSG00000172977ENST00000341318p.P121Lc.362C>TSubstitution - Missense
PALD1ENSG00000107719ENST00000263563p.A447Vc.1340C>TSubstitution - Missense
ENST00000395293p.P538Pc.1614T>GSubstitution - coding silent
A1CFENSG00000148584ENST00000373995p.K511Kc.1533G>ASubstitution - coding silent
A1CFENSG00000148584ENST00000282641p.K511Kc.1533G>ASubstitution - coding silent
A1CFENSG00000148584ENST00000374001p.K503Kc.1509G>ASubstitution - coding silent
PCDH15ENSG00000150275ENST00000395438p.R1501Rc.4503G>ASubstitution - coding silent
PCDH15ENSG00000150275ENST00000414778p.E1482Kc.4444G>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.S1866Pc.5596T>CSubstitution - Missense
ENST00000417177p.S1873Pc.5617T>CSubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.F1513Fc.4539C>TSubstitution - coding silent
ENST00000417177p.F1520Fc.4560C>TSubstitution - coding silent
PRM2ENSG00000122304ENST00000241808p.H29Yc.85C>TSubstitution - Missense
SHISA9ENSG00000237515ENST00000558583p.E306Kc.916G>ASubstitution - Missense
SYNMENSG00000182253ENST00000336292p.E1544Kc.4630G>ASubstitution - Missense
SYNMENSG00000182253ENST00000328642p.E1232Kc.3694G>ASubstitution - Missense
IQGAP1ENSG00000140575ENST00000268182p.Q507*c.1519C>TSubstitution - Nonsense
PAPLNENSG00000100767ENST00000427855p.L1002Vc.3004C>GSubstitution - Missense
KCNT2ENSG00000162687ENST00000294725p.G129Ec.386G>ASubstitution - Missense
CFHENSG00000000971ENST00000367429p.A971Tc.2911G>ASubstitution - Missense
ZBTB41ENSG00000177888ENST00000367405p.K3Kc.9G>ASubstitution - coding silent
RSBN1ENSG00000081019ENST00000261441p.L285Lc.853C>TSubstitution - coding silent
NUDT17ENSG00000186364ENST00000334513p.V222Gc.665T>GSubstitution - Missense
MASP2ENSG00000009724ENST00000400897p.T275Ic.824C>TSubstitution - Missense
CTTNBP2NLENSG00000143079ENST00000271277p.S488Sc.1464C>TSubstitution - coding silent
ELF5ENSG00000135374ENST00000312319p.H68Hc.204T>CSubstitution - coding silent
LIN7CENSG00000148943ENST00000278193p.P7Ac.19C>GSubstitution - Missense
EXPH5ENSG00000110723ENST00000265843p.F461fs*49c.1382delTDeletion - Frameshift
DSCAML1ENSG00000177103ENST00000321322p.E867Kc.2599G>ASubstitution - Missense
KCNC2ENSG00000166006ENST00000298972p.L335Lc.1003C>TSubstitution - coding silent
CAPS2ENSG00000180881ENST00000409445p.A402fs*3c.1195_1196insATCAAATAInsertion - Frameshift
NCAM1ENSG00000149294ENST00000401611p.?c.1838-3C>TUnknown
ENST00000433634p.?c.143-3C>TUnknown
CEP350ENSG00000135837ENST00000367607p.S2422Sc.7266T>CSubstitution - coding silent
CEP350ENSG00000135837ENST00000367607p.S2422Sc.7266T>CSubstitution - coding silent
PADI4ENSG00000159339ENST00000375448p.V49Vc.147C>TSubstitution - coding silent
BRINP2ENSG00000198797ENST00000361539p.C624Cc.1872C>TSubstitution - coding silent
SAAL1ENSG00000166788ENST00000524803p.?c.771-7T>CUnknown
MRGPRX1ENSG00000170255ENST00000302797p.G205Ec.614G>ASubstitution - Missense
COPB1ENSG00000129083ENST00000249923p.?c.2556+8C>TUnknown
FCRLAENSG00000132185ENST00000367959p.H70Yc.208C>TSubstitution - Missense
DUSP12ENSG00000081721ENST00000367943p.V187Lc.559G>CSubstitution - Missense
UHMK1ENSG00000152332ENST00000489294p.V358Ac.1073T>CSubstitution - Missense
SPENENSG00000065526ENST00000375759p.P2838Sc.8512C>TSubstitution - Missense
ATP1A2ENSG00000018625ENST00000361216p.W103*c.308G>ASubstitution - Nonsense
AGO3ENSG00000126070ENST00000373191p.V413Ic.1237G>ASubstitution - Missense
TEKT2ENSG00000092850ENST00000207457p.Q40*c.118C>TSubstitution - Nonsense
CSF3RENSG00000119535ENST00000373103p.R484Tc.1451G>CSubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.F421Fc.1263C>TSubstitution - coding silent
C1orf94ENSG00000142698ENST00000488417p.P565fs*19c.1693delCDeletion - Frameshift
C1orf94ENSG00000142698ENST00000373374p.P375fs*19c.1123delCDeletion - Frameshift
ST18ENSG00000147488ENST00000276480p.P536Lc.1607C>TSubstitution - Missense
RP1ENSG00000104237ENST00000220676p.S1064Nc.3191G>ASubstitution - Missense
ERBB4ENSG00000178568ENST00000402597p.G127Ec.380G>ASubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.D1070Nc.3208G>ASubstitution - Missense
ADAM23ENSG00000114948ENST00000374416p.F761Fc.2283C>TSubstitution - coding silent
FAM171BENSG00000144369ENST00000304698p.S478Ac.1432T>GSubstitution - Missense
ZSWIM2ENSG00000163012ENST00000295131p.P233Sc.697C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.?c.4814+10G>AUnknown
TTNENSG00000155657ENST00000359218p.?c.4676+10G>AUnknown
ENST00000356127p.?c.4814+10G>AUnknown
TTNENSG00000155657ENST00000342175p.?c.4676+10G>AUnknown
NM_003319p.?c.4676+10G>AUnknown
TTNENSG00000155657ENST00000360870p.?c.4814+10G>AUnknown
TTNENSG00000155657ENST00000342992p.F6577Fc.19731C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.E5192Kc.15574G>ASubstitution - Missense
NM_003319p.R4375Qc.13124G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S2728Fc.8183C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S2728Fc.8183C>TSubstitution - Missense
OR7G3ENSG00000170920ENST00000305444p.A237Tc.709G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.V5957Ac.17870T>CSubstitution - Missense
ENST00000331986p.V1590Ac.4769T>CSubstitution - Missense
ITGA3ENSG00000005884ENST00000320031p.F259Fc.777C>TSubstitution - coding silent
VPS53ENSG00000141252ENST00000437048p.?c.1705-9T>CUnknown
KCNG4ENSG00000168418ENST00000308251p.I264Ic.792C>TSubstitution - coding silent
CMIPENSG00000153815ENST00000537098p.K393Kc.1179G>ASubstitution - coding silent
CMIPENSG00000153815ENST00000539778p.K299Kc.897G>ASubstitution - coding silent
RBFOX1ENSG00000078328ENST00000311745p.P417Lc.1250C>TSubstitution - Missense
RBFOX1ENSG00000078328ENST00000550418p.P396Lc.1187C>TSubstitution - Missense
MROH2BENSG00000171495ENST00000399564p.H964Yc.2890C>TSubstitution - Missense
NUP155ENSG00000113569ENST00000231498p.V1282Vc.3846G>CSubstitution - coding silent
THBS1ENSG00000137801ENST00000260356p.G322Ec.965G>ASubstitution - Missense
GBP7ENSG00000213512ENST00000294671p.S208Lc.623C>TSubstitution - Missense
GBP6ENSG00000183347ENST00000370456p.T584Tc.1752T>CSubstitution - coding silent
CLN6ENSG00000128973ENST00000249806p.S165Fc.494C>TSubstitution - Missense
IQCHENSG00000103599ENST00000335894p.L415Lc.1243C>TSubstitution - coding silent
KIAA0101ENSG00000166803ENST00000300035p.K15Kc.45A>GSubstitution - coding silent
UNC79ENSG00000133958ENST00000256339p.L1683Mc.5047C>ASubstitution - Missense
PRIMA1ENSG00000175785ENST00000316227p.R120Rc.360G>ASubstitution - coding silent
NRDE2ENSG00000119720ENST00000354366p.Q1073*c.3217C>TSubstitution - Nonsense
SGPP1ENSG00000126821ENST00000247225p.M383Ic.1149G>ASubstitution - Missense
SLC45A1ENSG00000162426ENST00000289877p.G421Dc.1262G>ASubstitution - Missense
SLC44A5ENSG00000137968ENST00000370859p.S515Sc.1545C>TSubstitution - coding silent
ZBTB48ENSG00000204859ENST00000377674p.A561Vc.1682C>TSubstitution - Missense
ZBTB48ENSG00000204859ENST00000377674p.A561Ac.1683C>TSubstitution - coding silent
NFIAENSG00000162599ENST00000485903p.L76Lc.226C>TSubstitution - coding silent
MAP3K6ENSG00000142733ENST00000374040p.S149Fc.446C>TSubstitution - Missense
DAB1ENSG00000173406ENST00000371231p.E133Kc.397G>ASubstitution - Missense
NPHP4ENSG00000131697ENST00000378156p.H1231Yc.3691C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.H445Yc.1333C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369354p.H445Yc.1333C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313431p.H608Yc.1822C>TSubstitution - Missense
ENST00000360901p.F59Sc.176T>CSubstitution - Missense
PRDM2ENSG00000116731ENST00000235372p.L521Fc.1561C>TSubstitution - Missense
TMEM132DENSG00000151952ENST00000422113p.R549Rc.1647G>ASubstitution - coding silent
TMEM132DENSG00000151952ENST00000422113p.F271Fc.813C>TSubstitution - coding silent
ENST00000339192p.I404Vc.1210A>GSubstitution - Missense
AACSENSG00000081760ENST00000316519p.P453Sc.1357C>TSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.P4448Sc.13342C>TSubstitution - Missense
FAT3ENSG00000165323ENST00000298047p.P1055Sc.3163C>TSubstitution - Missense
CCDC67ENSG00000165325ENST00000298050p.P133Lc.398C>TSubstitution - Missense
C1orf43ENSG00000143612ENST00000368521p.?c.287-9C>TUnknown
ENST00000266524p.P18Lc.53C>TSubstitution - Missense
SYT10ENSG00000110975ENST00000228567p.K154fs*56c.459delTDeletion - Frameshift
OR4M2ENSG00000182974ENST00000332663p.I43Ic.129C>TSubstitution - coding silent
ANKRD36ENSG00000135976ENST00000461153p.K5Ec.13A>GSubstitution - Missense
ZNF717ENSG00000227124ENST00000422325p.V4Ac.11T>CSubstitution - Missense
TRPM2ENSG00000142185ENST00000397928p.S377Fc.1130C>TSubstitution - Missense
LRRC3ENSG00000160233ENST00000291592p.F215Fc.645C>TSubstitution - coding silent
KRTAP10-2ENSG00000205445ENST00000391621p.K194_S206>VPVCCGAc.573_618>28Complex - deletion inframe
UMODL1ENSG00000177398ENST00000400424p.G996Dc.2987G>ASubstitution - Missense
MIDNENSG00000167470ENST00000300952p.V466Mc.1396G>ASubstitution - Missense
HMHA1ENSG00000180448ENST00000313093p.P570Tc.1708C>ASubstitution - Missense
ASXL3ENSG00000141431ENST00000269197p.G894Ec.2681G>ASubstitution - Missense
CCDC40ENSG00000141519ENST00000374877p.S742Fc.2225C>TSubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.E1589Kc.4765G>ASubstitution - Missense
GEMIN4ENSG00000179409ENST00000319004p.V939Mc.2815G>ASubstitution - Missense
MARCH10ENSG00000173838ENST00000311269p.G241Ec.722G>ASubstitution - Missense
SLC26A7ENSG00000147606ENST00000276609p.?c.1026+4G>TUnknown
ENST00000318252p.?c.9723-6C>TUnknown
EGR3ENSG00000179388ENST00000317216p.T126Ac.376A>GSubstitution - Missense
ADAM28ENSG00000042980ENST00000265769p.P357Sc.1069C>TSubstitution - Missense
AF381545.1p.V662Vc.1986G>ASubstitution - coding silent
C3orf67ENSG00000163689ENST00000295966p.E435Kc.1303G>ASubstitution - Missense
ITIH1ENSG00000055957ENST00000273283p.H189Yc.565C>TSubstitution - Missense
TMEM110ENSG00000213533ENST00000355083p.W70*c.210G>ASubstitution - Nonsense
GLDCENSG00000178445ENST00000321612p.G823Sc.2467G>ASubstitution - Missense
ENST00000377290p.S499Lc.1496C>TSubstitution - Missense
FRMPD1ENSG00000070601ENST00000377765p.P266Lc.797C>TSubstitution - Missense
RANBP6ENSG00000137040ENST00000259569p.P167Sc.499C>TSubstitution - Missense
POLR1EENSG00000137054ENST00000377798p.L92Lc.274T>CSubstitution - coding silent
POLR1EENSG00000137054ENST00000377792p.L154Lc.460T>CSubstitution - coding silent
PLXNA4ENSG00000221866ENST00000321063p.D484Nc.1450G>ASubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.D484Nc.1450G>ASubstitution - Missense
PAX4ENSG00000106331ENST00000341640p.R37Rc.111G>ASubstitution - coding silent
OPN1SWENSG00000128617ENST00000249389p.R61Cc.181C>TSubstitution - Missense
FLNCENSG00000128591ENST00000325888p.T739Ic.2216C>TSubstitution - Missense
PHF20ENSG00000025293ENST00000374012p.H601Qc.1803C>GSubstitution - Missense
SHANK1ENSG00000161681ENST00000391813p.I278Ic.834C>TSubstitution - coding silent
KLK4ENSG00000167749ENST00000324041p.D123Dc.369C>TSubstitution - coding silent
TBC1D17ENSG00000104946ENST00000221543p.S177Sc.531C>TSubstitution - coding silent
C20orf112ENSG00000197183ENST00000326071p.L141Lc.423C>TSubstitution - coding silent
CCDC155ENSG00000161609ENST00000447857p.P559Lc.1676C>TSubstitution - Missense
CPT1CENSG00000169169ENST00000323446p.?c.880-7C>TUnknown
WRAP53ENSG00000141499ENST00000396463p.P501Sc.1501C>TSubstitution - Missense
ENST00000300671p.D2855Ec.8565C>ASubstitution - Missense
MFSD11ENSG00000092931ENST00000336509p.S215Fc.644C>TSubstitution - Missense
ZBTB4ENSG00000174282ENST00000311403p.S228Sc.684C>TSubstitution - coding silent
DRG2ENSG00000108591ENST00000225729p.L27fs*4c.79delCDeletion - Frameshift
CDRT1ENSG00000241322ENST00000395906p.L170Lc.510C>TSubstitution - coding silent
COL4A5ENSG00000188153ENST00000361603p.N125Kc.375T>GSubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.R1926*c.5776C>TSubstitution - Nonsense
MYOCDENSG00000141052ENST00000425538p.L510Lc.1530G>ASubstitution - coding silent
MYOCDENSG00000141052ENST00000343344p.L510Lc.1530G>ASubstitution - coding silent
MORC4ENSG00000133131ENST00000355610p.T319Tc.957C>TSubstitution - coding silent
ZNF169ENSG00000175787ENST00000395395p.L335Lc.1003C>TSubstitution - coding silent
ENST00000331986p.M6157Ic.18471G>TSubstitution - Missense
CD209ENSG00000090659ENST00000315599p.W375*c.1125G>ASubstitution - Nonsense
CD209ENSG00000090659ENST00000315599p.W375*c.1125G>ASubstitution - Nonsense
FBN3ENSG00000142449ENST00000270509p.G1302Ec.3905G>ASubstitution - Missense
GPR108ENSG00000125734ENST00000264080p.P154Sc.460C>TSubstitution - Missense
VAV1ENSG00000141968ENST00000304076p.P615Pc.1845C>TSubstitution - coding silent
ENST00000446248_v68p.P232Pc.696C>GSubstitution - coding silent
CAMSAP3ENSG00000076826ENST00000446248p.P232Pc.696C>GSubstitution - coding silent
GPC4ENSG00000076716ENST00000370828p.M251Ic.753G>ASubstitution - Missense
TUBB4AENSG00000104833ENST00000264071p.A364Ac.1092C>TSubstitution - coding silent
TENM1ENSG00000009694ENST00000371130p.S284Fc.851C>TSubstitution - Missense
ARHGAP36ENSG00000147256ENST00000276211p.A232Ac.696G>ASubstitution - coding silent
ZCCHC16ENSG00000187823ENST00000340433p.E143Kc.427G>ASubstitution - Missense
OSBPL6ENSG00000079156ENST00000190611p.P807Sc.2419C>TSubstitution - Missense
RTN4RENSG00000040608ENST00000043402p.R199Cc.595C>TSubstitution - Missense
EFCAB8ENSG00000215529ENST00000439060p.P94Sc.280C>TSubstitution - Missense
ACSS1ENSG00000154930ENST00000323482p.R120Wc.358C>TSubstitution - Missense
NINLENSG00000101004ENST00000278886p.S1183fs*13c.3547_3548delAGDeletion - Frameshift
KIR2DL4ENSG00000189013ENST00000345540p.P209Sc.625C>TSubstitution - Missense
KIR2DL4ENSG00000189013ENST00000396284p.P207Sc.619C>TSubstitution - Missense
SYT5ENSG00000129990ENST00000354308p.R157Qc.470G>ASubstitution - Missense
DHRS7CENSG00000184544ENST00000330255p.R189Cc.565C>TSubstitution - Missense
HDHD2ENSG00000167220ENST00000300605p.Y168Yc.504T>CSubstitution - coding silent
RPL17ENSG00000265681ENST00000418495p.N64Sc.191A>GSubstitution - Missense
MYO5BENSG00000167306ENST00000285039p.E1405Kc.4213G>ASubstitution - Missense
MAPK4ENSG00000141639ENST00000400384p.D299Nc.895G>ASubstitution - Missense
ME2ENSG00000082212ENST00000321341p.?c.845-7C>TUnknown
ZFHX4ENSG00000091656ENST00000521891p.R3056Qc.9167G>ASubstitution - Missense
ST8SIA5ENSG00000101638ENST00000315087p.E181Kc.541G>ASubstitution - Missense
ENST00000400156_v68p.S45Fc.134C>TSubstitution - Missense
ZNF705GENSG00000215372ENST00000400156p.S45Fc.134C>TSubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.W1470*c.4409G>ASubstitution - Nonsense
PSD3ENSG00000156011ENST00000327040p.Q214*c.640C>TSubstitution - Nonsense
PSD3ENSG00000156011ENST00000327040p.I213Ic.639C>TSubstitution - coding silent
C8orf34ENSG00000165084ENST00000337103p.I327Ic.981C>TSubstitution - coding silent
C8orf34ENSG00000165084ENST00000518698p.I352Ic.1056C>TSubstitution - coding silent
ENST00000360191p.R147Sc.441G>CSubstitution - Missense
ENST00000360191p.P271Pc.813A>GSubstitution - coding silent
NAPRT1ENSG00000147813ENST00000449291p.P90Lc.269C>TSubstitution - Missense
NAPRT1ENSG00000147813ENST00000340490p.P66Lc.197C>TSubstitution - Missense
NAPRT1ENSG00000147813ENST00000449291p.P90Sc.268C>TSubstitution - Missense
DENND2AENSG00000146966ENST00000275884p.?c.2666-10C>TUnknown
DENND2AENSG00000146966ENST00000275884p.S408Fc.1223C>TSubstitution - Missense
MGAMENSG00000257335ENST00000475668p.?c.1960-4C>TUnknown
MGAMENSG00000257335ENST00000549489p.?c.1960-4C>TUnknown
DGKIENSG00000157680ENST00000288490p.W884*c.2651G>ASubstitution - Nonsense
DGKIENSG00000157680ENST00000288490p.L782Lc.2346G>ASubstitution - coding silent
DGKIENSG00000157680ENST00000288490p.V327Vc.981G>ASubstitution - coding silent
KIAA1549ENSG00000122778ENST00000422774p.P254Sc.760C>TSubstitution - Missense
NM_022740p.S759Sc.2277C>TSubstitution - coding silent
HIPK2ENSG00000064393ENST00000406875p.S759Sc.2277C>TSubstitution - coding silent
PARP3ENSG00000041880ENST00000417220p.L485Lc.1453T>CSubstitution - coding silent
NPRL2ENSG00000114388ENST00000232501p.Q252*c.754C>TSubstitution - Nonsense
TECENSG00000135605ENST00000381501p.P309Lc.926C>TSubstitution - Missense
USP4ENSG00000114316ENST00000265560p.N410Nc.1230C>TSubstitution - coding silent
RBM47ENSG00000163694ENST00000381793p.F285Fc.855C>TSubstitution - coding silent
RBM47ENSG00000163694ENST00000381795p.F285Fc.855C>TSubstitution - coding silent
RBM47ENSG00000163694ENST00000319592p.F285Fc.855C>TSubstitution - coding silent
ARAP2ENSG00000047365ENST00000303965p.D620Nc.1858G>ASubstitution - Missense
GARTENSG00000159131ENST00000381839p.L932Lc.2794C>TSubstitution - coding silent
CXADRENSG00000154639ENST00000284878p.A144Ac.432G>ASubstitution - coding silent
NR1D1ENSG00000126368ENST00000246672p.G248Sc.742G>ASubstitution - Missense
ABCC11ENSG00000121270ENST00000356608p.T37Ac.109A>GSubstitution - Missense
PPLENSG00000118898ENST00000345988p.H1550Yc.4648C>TSubstitution - Missense
AMTNENSG00000187689ENST00000339336p.G166Rc.496G>ASubstitution - Missense
RASSF6ENSG00000169435ENST00000342081p.G215Ec.644G>ASubstitution - Missense
RASSF6ENSG00000169435ENST00000307439p.G183Ec.548G>ASubstitution - Missense
PARM1ENSG00000169116ENST00000307428p.V245Vc.735G>ASubstitution - coding silent
PARM1ENSG00000169116ENST00000307428p.V245Vc.735G>ASubstitution - coding silent
ARL13BENSG00000169379ENST00000394222p.R407Kc.1220G>ASubstitution - Missense
ARL13BENSG00000169379ENST00000303097p.R300Kc.899G>ASubstitution - Missense
TMPRSS11EENSG00000087128ENST00000305363p.V87Vc.261G>ASubstitution - coding silent
UGT2B17ENSG00000197888ENST00000317746p.D204Nc.610G>ASubstitution - Missense
ENST00000265403_v61p.D253Nc.757G>ASubstitution - Missense
UGT2B10ENSG00000109181ENST00000265403p.D253Nc.757G>ASubstitution - Missense
SRGAP3ENSG00000196220ENST00000383836p.R698Rc.2094G>ASubstitution - coding silent
ANKRD36ENSG00000135976ENST00000420699p.K5Ec.13A>GSubstitution - Missense
TIAM2ENSG00000146426ENST00000318981p.S355Fc.1064C>TSubstitution - Missense
RAET1GENSG00000203722ENST00000367360p.D144Dc.432T>CSubstitution - coding silent
NM_005496.2p.M499Rc.1496T>GSubstitution - Missense
MBNL1ENSG00000152601ENST00000324196p.F270Fc.810C>TSubstitution - coding silent
CPB1ENSG00000153002ENST00000282957p.K293Kc.879A>GSubstitution - coding silent
MCCENSG00000171444ENST00000408903p.R105Kc.314G>ASubstitution - Missense
SLC12A7ENSG00000113504ENST00000264930p.R666Cc.1996C>TSubstitution - Missense
CAMK4ENSG00000152495ENST00000512453p.G375Ec.1124G>ASubstitution - Missense
TRANK1ENSG00000168016ENST00000428977p.T728Mc.2183C>TSubstitution - Missense
TRANK1ENSG00000168016ENST00000301807p.T728Mc.2183C>TSubstitution - Missense
ITGA9ENSG00000144668ENST00000264741p.V812Vc.2436C>TSubstitution - coding silent
ACAA1ENSG00000060971ENST00000333167p.P378Lc.1133C>TSubstitution - Missense
UXS1ENSG00000115652ENST00000409501p.N46Nc.138T>CSubstitution - coding silent
AFF3ENSG00000144218ENST00000356421p.E764Ec.2292G>ASubstitution - coding silent
CD300AENSG00000167851ENST00000360141p.S269Lc.806C>TSubstitution - Missense
SLC27A5ENSG00000083807ENST00000263093p.R281Gc.841C>GSubstitution - Missense
AMZ2ENSG00000196704ENST00000392720p.H6Qc.18C>GSubstitution - Missense
AMZ2ENSG00000196704ENST00000359783p.H6Qc.18C>GSubstitution - Missense
ZNF329ENSG00000181894ENST00000358067p.P29Lc.86C>TSubstitution - Missense
ENST00000342088p.G109Rc.325G>ASubstitution - Missense
BCORENSG00000183337ENST00000378444p.P326Lc.977C>TSubstitution - Missense
BCORENSG00000183337ENST00000397354p.P326Lc.977C>TSubstitution - Missense
FAM47AENSG00000185448ENST00000346193p.L235Fc.703C>TSubstitution - Missense
ANK1ENSG00000029534ENST00000265709p.I278Ic.834C>TSubstitution - coding silent
DMDENSG00000198947ENST00000378677p.E925Ec.2775G>ASubstitution - coding silent
DMDENSG00000198947ENST00000378677p.E925Ec.2775G>ASubstitution - coding silent
UNC5DENSG00000156687ENST00000404895p.?c.1085-4T>CUnknown
UNC5DENSG00000156687ENST00000404895p.L902Lc.2706G>ASubstitution - coding silent
PKD2ENSG00000118762ENST00000237596p.G240Cc.718G>TSubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.N1148Sc.3443A>GSubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.N1148Sc.3443A>GSubstitution - Missense
FRAS1ENSG00000138759ENST00000325942p.N1148Sc.3443A>GSubstitution - Missense
SLC9B2ENSG00000164038ENST00000394785p.D278Gc.833A>GSubstitution - Missense
CENPEENSG00000138778ENST00000265148p.A642Ac.1926C>TSubstitution - coding silent
ENST00000287624p.?c.576+10G>AUnknown
ENST00000287624p.?c.576+9G>AUnknown
OGG1ENSG00000114026ENST00000302036p.M11fs*22c.29_30insCInsertion - Frameshift
OGG1ENSG00000114026ENST00000339511p.M11fs*22c.29_30insCInsertion - Frameshift
TPTEENSG00000166157ENST00000361285p.?c.566+5G>AUnknown
TPTEENSG00000166157ENST00000298232p.?c.512+5G>AUnknown
TFIP11ENSG00000100109ENST00000407690p.G814Ec.2441G>ASubstitution - Missense
LAMP5ENSG00000125869ENST00000246070p.S189Lc.566C>TSubstitution - Missense
NLRP12ENSG00000142405ENST00000324134p.T860Ic.2579C>TSubstitution - Missense
NLRP12ENSG00000142405ENST00000345770p.T861Ic.2582C>TSubstitution - Missense
GRIN2AENSG00000183454ENST00000396573p.D1024Nc.3070G>ASubstitution - Missense
IL32ENSG00000008517ENST00000325568p.W129*c.386G>ASubstitution - Nonsense
MYH15ENSG00000144821ENST00000273353p.R126Hc.377G>ASubstitution - Missense
MORC1ENSG00000114487ENST00000232603p.?c.2478-5C>TUnknown
MORC1ENSG00000114487ENST00000232603p.E816Kc.2446G>ASubstitution - Missense
OTOFENSG00000115155ENST00000339598p.P283Lc.848C>TSubstitution - Missense
ANKRD36ENSG00000135976ENST00000420699p.K1094fs*4c.3275delGDeletion - Frameshift
FARP2ENSG00000006607ENST00000264042p.H234Yc.700C>TSubstitution - Missense
CD28ENSG00000178562ENST00000324106p.K182Kc.546G>ASubstitution - coding silent
ATAD2BENSG00000119778ENST00000238789p.T1090Tc.3270A>GSubstitution - coding silent
DNAH7ENSG00000118997ENST00000312428p.W3864Lc.11591G>TSubstitution - Missense
DNAH7ENSG00000118997ENST00000410072p.?c.1354-9C>TUnknown
TTNENSG00000155657ENST00000359218p.S9215Lc.27644C>TSubstitution - Missense
ENST00000356127p.S15587Lc.46760C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.S9282Lc.27845C>TSubstitution - Missense
NM_003319p.S9090Lc.27269C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.A17680Ec.53039C>ASubstitution - Missense
NM_003319p.A11183Ec.33548C>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.G20848Ec.62543G>ASubstitution - Missense
ENST00000356127p.G27218Ec.81653G>ASubstitution - Missense
COL21A1ENSG00000124749ENST00000244728p.?c.1278+9G>AUnknown
BEND3ENSG00000178409ENST00000369042p.S46Gc.136A>GSubstitution - Missense
AK9ENSG00000155085ENST00000424296p.V1417Lc.4249G>TSubstitution - Missense
MEI1ENSG00000167077ENST00000300398p.D71Ec.213T>GSubstitution - Missense
HACE1ENSG00000085382ENST00000262903p.P685Sc.2053C>TSubstitution - Missense
CARD10ENSG00000100065ENST00000403299p.N276Nc.828T>CSubstitution - coding silent
TRIOBPENSG00000100106ENST00000406386p.S343Fc.1028C>TSubstitution - Missense
EIF3LENSG00000100129ENST00000412331p.D541fs*11c.1617_1618insGInsertion - Frameshift
ENST00000425539p.D584fs*11c.1750_1751insGInsertion - Frameshift
ADNP2ENSG00000101544ENST00000262198p.G654Cc.1960G>TSubstitution - Missense
ENST00000306096p.?c.371_380+5delCAGATATTAGgtaagUnknown
COL5A3ENSG00000080573ENST00000264828p.G98Rc.292G>ASubstitution - Missense
ENST00000217537p.R70Wc.208C>TSubstitution - Missense
ENST00000217537p.H69Hc.207C>TSubstitution - coding silent
SRPX2ENSG00000102359ENST00000373004p.I128Ic.384C>TSubstitution - coding silent
GPR98ENSG00000164199ENST00000405460p.D4435Nc.13303G>ASubstitution - Missense
TRPC7ENSG00000069018ENST00000513104p.V295Vc.885G>ASubstitution - coding silent
TRPC7ENSG00000069018ENST00000513104p.V295Vc.885G>ASubstitution - coding silent
GUCY1B3ENSG00000061918ENST00000264424p.I422Ic.1266C>TSubstitution - coding silent
BST1ENSG00000109743ENST00000265016p.S180Fc.539C>TSubstitution - Missense
XRN1ENSG00000114127ENST00000264951p.R886Cc.2656C>TSubstitution - Missense
XRN1ENSG00000114127ENST00000264951p.I885Ic.2655T>ASubstitution - coding silent
WNT7AENSG00000154764ENST00000285018p.G225Dc.674G>ASubstitution - Missense
CASRENSG00000036828ENST00000296154p.L658Lc.1972C>TSubstitution - coding silent
ZDHHC23ENSG00000184307ENST00000330212p.*410*c.1229G>ASubstitution - coding silent
ENST00000451531_v68p.G121Ec.362G>ASubstitution - Missense
AMER3ENSG00000178171ENST00000321420p.L434Fc.1300C>TSubstitution - Missense
SRCAPENSG00000080603ENST00000262518p.P810Lc.2429C>TSubstitution - Missense
ZG16ENSG00000174992ENST00000400752p.I86Ic.258C>TSubstitution - coding silent
ENST00000400752_v68p.I86Ic.258C>TSubstitution - coding silent
ATXN2LENSG00000168488ENST00000395547p.L523Lc.1567C>TSubstitution - coding silent
SUGP2ENSG00000064607ENST00000337018p.L354Lc.1062C>TSubstitution - coding silent
KIAA1683ENSG00000130518ENST00000392413p.A865Ac.2595G>ASubstitution - coding silent
ENST00000359737p.A865Ac.2595G>ASubstitution - coding silent
TROENSG00000067445ENST00000173898p.G608Dc.1823G>ASubstitution - Missense
ARHGEF9ENSG00000131089ENST00000253401p.A419Vc.1256C>TSubstitution - Missense
XM_377014.1p.A417Vc.1250C>TSubstitution - Missense
ZNF679ENSG00000197123ENST00000421025p.E377Ec.1131G>ASubstitution - coding silent
FBXW12ENSG00000164049ENST00000296438p.P274Sc.820C>TSubstitution - Missense
SLC26A6ENSG00000225697ENST00000395550p.F393Fc.1179C>TSubstitution - coding silent
TGM4ENSG00000163810ENST00000296125p.G563Sc.1687G>ASubstitution - Missense
COL6A6ENSG00000206384ENST00000358511p.E1021Kc.3061G>ASubstitution - Missense
SEMA5BENSG00000082684ENST00000451055p.T1154Tc.3462C>TSubstitution - coding silent
IQCA1ENSG00000132321ENST00000409907p.I405Ic.1215C>TSubstitution - coding silent
IQCA1ENSG00000132321ENST00000409907p.I405Ic.1215C>TSubstitution - coding silent
ENST00000328380p.G262Rc.784G>ASubstitution - Missense
NYAP2ENSG00000144460ENST00000272907p.F207Ic.619T>ASubstitution - Missense
ENST00000381114p.L982Lc.2946G>ASubstitution - coding silent
ENST00000381114p.L982Lc.2946G>ASubstitution - coding silent
ENST00000381114p.I666Ic.1998C>TSubstitution - coding silent
FOXD4L1ENSG00000184492ENST00000306507p.R94Rc.282G>ASubstitution - coding silent
RAB39BENSG00000155961ENST00000369454p.I182Ic.546C>TSubstitution - coding silent
STEAP2ENSG00000157214ENST00000394621p.L49Pc.146T>CSubstitution - Missense
STEAP2ENSG00000157214ENST00000394626p.L49Pc.146T>CSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.A2863Ac.8589A>GSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.A2794Ac.8382A>GSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.P2517Sc.7549C>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.P2517Sc.7549C>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.P2448Sc.7342C>TSubstitution - Missense
HOXA2ENSG00000105996ENST00000222718p.T330Ac.988A>GSubstitution - Missense
TAGAPENSG00000164691ENST00000367066p.E187Ec.561G>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.D113Nc.337G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.D113Nc.337G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.D120Nc.358G>ASubstitution - Missense
DCSTAMPENSG00000164935ENST00000297581p.W167*c.501G>ASubstitution - Nonsense
RGS22ENSG00000132554ENST00000360863p.P167Lc.500C>TSubstitution - Missense
EGFRENSG00000146648ENST00000275493p.S306Lc.917C>TSubstitution - Missense
ENST00000404991_v68p.P48Lc.143C>TSubstitution - Missense
PAPOLBENSG00000218823ENST00000404991p.P48Lc.143C>TSubstitution - Missense
SUN3ENSG00000164744ENST00000395572p.I332Ic.996C>TSubstitution - coding silent
SUN3ENSG00000164744ENST00000395572p.I332Sc.995T>GSubstitution - Missense
NUDCD3ENSG00000015676ENST00000355451p.G334Gc.1002G>TSubstitution - coding silent
NUDCD3ENSG00000015676ENST00000355451p.G334Wc.1000G>TSubstitution - Missense
AOC1ENSG00000002726ENST00000360937p.L505Lc.1513C>TSubstitution - coding silent
ENST00000397266p.P124Pc.372G>ASubstitution - coding silent
EZH2ENSG00000106462ENST00000350995p.P93Sc.277C>TSubstitution - Missense
ACTR3CENSG00000106526ENST00000252071p.F74Fc.222C>TSubstitution - coding silent
CTTNBP2ENSG00000077063ENST00000160373p.D1007Dc.3021T>CSubstitution - coding silent
OR2A5ENSG00000221836ENST00000408906p.F178Fc.534C>TSubstitution - coding silent
C7orf60ENSG00000164603ENST00000297145p.A389Vc.1166C>TSubstitution - Missense
EBF1ENSG00000164330ENST00000313708p.R403Kc.1208G>ASubstitution - Missense
GABRA6ENSG00000145863ENST00000274545p.T60Pc.178A>CSubstitution - Missense
TENM2ENSG00000145934ENST00000518659p.R279Rc.837G>ASubstitution - coding silent
PCDHB3ENSG00000113205ENST00000231130p.L767Lc.2299C>TSubstitution - coding silent
ENST00000274705p.P716Pc.2148G>ASubstitution - coding silent
PCDHA12ENSG00000251664ENST00000398631p.L371Lc.1113G>ASubstitution - coding silent
PCDHB2ENSG00000112852ENST00000194155p.A228Ac.684C>TSubstitution - coding silent
PCDHB2ENSG00000112852ENST00000194155p.F311Fc.933C>TSubstitution - coding silent
DNAH5ENSG00000039139ENST00000265104p.F2004Fc.6012C>TSubstitution - coding silent
DNAH5ENSG00000039139ENST00000265104p.S1733Sc.5199G>ASubstitution - coding silent
PSD2ENSG00000146005ENST00000274710p.T489Tc.1467G>ASubstitution - coding silent
SLC6A8ENSG00000130821ENST00000253122p.?c.263-5C>AUnknown
HCFC1ENSG00000172534ENST00000310441p.?c.2354-9C>TUnknown
NM_005334.1p.?c.2063-9C>TUnknown
CD99L2ENSG00000102181ENST00000370377p.G116Ec.347G>ASubstitution - Missense
NM_007150.1p.G65Cc.193G>TSubstitution - Missense
PNMA5ENSG00000198883ENST00000361887p.P388Lc.1163C>TSubstitution - Missense
MAGEC1ENSG00000155495ENST00000285879p.L246Lc.736C>TSubstitution - coding silent
GPR112ENSG00000156920ENST00000394143p.D1134Yc.3400G>TSubstitution - Missense
CEACAM7ENSG00000007306ENST00000006724p.S149Pc.445T>CSubstitution - Missense
ADCYAP1R1ENSG00000078549ENST00000304166p.S76Nc.227G>ASubstitution - Missense
KCNT1ENSG00000107147ENST00000298480p.L302Lc.904C>TSubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000354484p.V871Vc.2613G>ASubstitution - coding silent
TIGD6ENSG00000164296ENST00000296736p.E15Kc.43G>ASubstitution - Missense
ENST00000382851p.R108Sc.324G>TSubstitution - Missense
ZNF181ENSG00000197841ENST00000492450p.S168Sc.504T>ASubstitution - coding silent
ENST00000328088p.S104Sc.312T>ASubstitution - coding silent
VPS53ENSG00000141252ENST00000437048p.N183Kc.549T>ASubstitution - Missense
VPS53ENSG00000141252ENST00000291074p.N154Kc.462T>ASubstitution - Missense
MPOENSG00000005381ENST00000225275p.R480Hc.1439G>ASubstitution - Missense
MPOENSG00000005381ENST00000340482p.R512Hc.1535G>ASubstitution - Missense
MTMR4ENSG00000108389ENST00000323456p.E433Kc.1297G>ASubstitution - Missense
EFTUD2ENSG00000108883ENST00000426333p.I438Ic.1314C>TSubstitution - coding silent
VPS53ENSG00000141252ENST00000437048p.P416Qc.1247C>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.R895Qc.2684G>ASubstitution - Missense
THADAENSG00000115970ENST00000405975p.S142Fc.425C>TSubstitution - Missense
SLFN5ENSG00000166750ENST00000299977p.A774Vc.2321C>TSubstitution - Missense
MRM1ENSG00000129282ENST00000250156p.V171Ec.512T>ASubstitution - Missense
CCL1ENSG00000108702ENST00000225842p.G15Gc.45G>ASubstitution - coding silent
UFL1ENSG00000014123ENST00000369278p.E314Vc.941A>TSubstitution - Missense
ENST00000296885p.Q277*c.829C>TSubstitution - Nonsense
BCLAF1ENSG00000029363ENST00000531224p.G390Rc.1168G>ASubstitution - Missense
SVEP1ENSG00000165124ENST00000401783p.V191Vc.573A>CSubstitution - coding silent
MSANTD3ENSG00000066697ENST00000374885p.L151Lc.451T>CSubstitution - coding silent
FAM83AENSG00000147689ENST00000518448p.L117Lc.349C>TSubstitution - coding silent
FAM83AENSG00000147689ENST00000536633p.L117Lc.349C>TSubstitution - coding silent
FAM83AENSG00000147689ENST00000546351p.L117Lc.349C>TSubstitution - coding silent
ADTRPENSG00000111863ENST00000414691p.R69Kc.206G>ASubstitution - Missense
PHYHIPLENSG00000165443ENST00000373878p.S219Lc.656C>TSubstitution - Missense
FGFR2ENSG00000066468ENST00000369056p.D558Nc.1672G>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.V980Vc.2940G>ASubstitution - coding silent
ENST00000278882_v61p.G95Ec.284G>ASubstitution - Missense
FRG1BENSG00000149531ENST00000278882p.G95Ec.284G>ASubstitution - Missense
FRG1BENSG00000149531ENST00000439954p.G100Ec.299G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.D120Nc.358G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.D113Nc.337G>ASubstitution - Missense
TENM2ENSG00000145934ENST00000545108p.S2009Fc.6026C>TSubstitution - Missense
OR4C15ENSG00000181939ENST00000314644p.R352Rc.1056G>ASubstitution - coding silent
ENST00000266505_v70p.R65Qc.194G>ASubstitution - Missense
KCNT2ENSG00000162687ENST00000367431p.G129Ec.386G>ASubstitution - Missense
ARHGAP29ENSG00000137962ENST00000370217p.R348Cc.1042C>TSubstitution - Missense
C8orf34ENSG00000165084ENST00000325233p.I96Ic.288C>TSubstitution - coding silent
HCRTR2ENSG00000137252ENST00000370862p.I58Ic.174C>TSubstitution - coding silent
GPR111ENSG00000164393ENST00000296862p.R9Hc.26G>ASubstitution - Missense
PTCHD4ENSG00000244694ENST00000543600p.E290Kc.868G>ASubstitution - Missense
PKHD1ENSG00000170927ENST00000371117p.Q205*c.613C>TSubstitution - Nonsense
PKHD1ENSG00000170927ENST00000340994p.Q205*c.613C>TSubstitution - Nonsense
CLIC5ENSG00000112782ENST00000185206p.G128Gc.384G>ASubstitution - coding silent
SLC25A27ENSG00000153291ENST00000371347p.P67Pc.201C>TSubstitution - coding silent
UHRF1BP1ENSG00000065060ENST00000192788p.S493Fc.1478C>TSubstitution - Missense
UHRF1BP1ENSG00000065060ENST00000192788p.S493Sc.1479C>TSubstitution - coding silent
HLA-DQB2ENSG00000232629ENST00000411527p.C43Gc.127T>GSubstitution - Missense
HLA-DOBENSG00000241106ENST00000438763p.W87*c.260G>ASubstitution - Nonsense
ENST00000446948p.L204Vc.610C>GSubstitution - Missense
GHRENSG00000112964ENST00000230882p.H437Yc.1309C>TSubstitution - Missense
SEPP1ENSG00000250722ENST00000514985p.H110Qc.330T>ASubstitution - Missense
TENM2ENSG00000145934ENST00000518659p.S2010Fc.6029C>TSubstitution - Missense
TENM2ENSG00000145934ENST00000519204p.S1889Fc.5666C>TSubstitution - Missense
ENST00000388903p.S1843Fc.5528C>TSubstitution - Missense
MB21D2ENSG00000180611ENST00000392452p.P344Sc.1030C>TSubstitution - Missense
GP5ENSG00000178732ENST00000323007p.L549Lc.1647C>TSubstitution - coding silent
GP5ENSG00000178732ENST00000323007p.L549Lc.1647C>TSubstitution - coding silent
AHSGENSG00000145192ENST00000411641p.P356Sc.1066C>TSubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.S1777Fc.5330C>TSubstitution - Missense
TOR1AENSG00000136827ENST00000351698p.L233Lc.699C>TSubstitution - coding silent
FAM129BENSG00000136830ENST00000373312p.?c.590-9C>TUnknown
COL27A1ENSG00000196739ENST00000356083p.E1758Kc.5272G>ASubstitution - Missense
ORM1ENSG00000229314ENST00000259396p.L120Lc.360G>ASubstitution - coding silent
PHF20L1ENSG00000129292ENST00000395386p.M688Vc.2062A>GSubstitution - Missense
PHF20L1ENSG00000129292ENST00000220847p.M662Vc.1984A>GSubstitution - Missense
ZFATENSG00000066827ENST00000377838p.S285Sc.855G>ASubstitution - coding silent
ENST00000398946p.S273Sc.819G>ASubstitution - coding silent
ZNF572ENSG00000180938ENST00000319286p.Q109Qc.327G>ASubstitution - coding silent
PPIGENSG00000138398ENST00000260970p.F285Fc.855C>TSubstitution - coding silent
FAPENSG00000078098ENST00000188790p.?c.1403-4A>GUnknown
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
LMBR1ENSG00000105983ENST00000353442p.R455Qc.1364G>ASubstitution - Missense
AASDHENSG00000157426ENST00000205214p.P746Lc.2237C>TSubstitution - Missense
AASDHENSG00000157426ENST00000205214p.P746Tc.2236C>ASubstitution - Missense
EVCENSG00000072840ENST00000264956p.P152Qc.455C>ASubstitution - Missense
MARCH7ENSG00000136536ENST00000259050p.L351Fc.1051C>TSubstitution - Missense
SPATA18ENSG00000163071ENST00000295213p.S85Sc.255C>GSubstitution - coding silent
STK32BENSG00000152953ENST00000282908p.T383Tc.1149C>TSubstitution - coding silent
TP53TG5ENSG00000124251ENST00000372726p.A146Ac.438G>ASubstitution - coding silent
TMEM38AENSG00000072954ENST00000187762p.R128Cc.382C>TSubstitution - Missense
ERN2ENSG00000134398ENST00000256797p.G148Ec.443G>ASubstitution - Missense
ENST00000316490p.I3390Ic.10170C>TSubstitution - coding silent
ENST00000316490_v65p.I2988Ic.8964C>TSubstitution - coding silent
ENST00000316490p.I2940Ic.8820C>TSubstitution - coding silent
ENST00000309900p.I546Ic.1638C>TSubstitution - coding silent
TERF2ENSG00000132604ENST00000254942p.L87Fc.259C>TSubstitution - Missense
NFAT5ENSG00000102908ENST00000393742p.S554Lc.1661C>TSubstitution - Missense
DEFB104AENSG00000176782ENST00000314265p.S43Rc.129C>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.W1425*c.4274G>ASubstitution - Nonsense
ZFHX4ENSG00000091656ENST00000050961p.P2277Sc.6829C>TSubstitution - Missense
SVEP1ENSG00000165124ENST00000302728p.V191Vc.573A>CSubstitution - coding silent
KIAA0368ENSG00000136813ENST00000338205p.R1426Qc.4277G>ASubstitution - Missense
ADAM28ENSG00000042980ENST00000437154p.P357Sc.1069C>TSubstitution - Missense
NAPRT1ENSG00000147813ENST00000276844p.P90Sc.268C>TSubstitution - Missense
SUN3ENSG00000164744ENST00000453192p.I320Sc.959T>GSubstitution - Missense
HIPK2ENSG00000064393ENST00000342645p.S759Sc.2277C>TSubstitution - coding silent
LMBR1ENSG00000105983ENST00000354505p.R496Qc.1487G>ASubstitution - Missense
DGKIENSG00000157680ENST00000424189p.V327Vc.981G>ASubstitution - coding silent
CDKN1AENSG00000124762ENST00000448526p.I76Ic.228C>TSubstitution - coding silent
DAAM2ENSG00000146122ENST00000405961p.P23Sc.67C>TSubstitution - Missense
ABCC10ENSG00000124574ENST00000372530p.F263Fc.789C>TSubstitution - coding silent
DDR1ENSG00000204580ENST00000376575p.F241Lc.721T>CSubstitution - Missense
DDR1ENSG00000204580ENST00000324771p.F241Lc.721T>CSubstitution - Missense
DDAH2ENSG00000213722ENST00000437288p.G161Gc.483C>TSubstitution - coding silent
HLA-DQB2ENSG00000232629ENST00000435145p.C43Gc.127T>GSubstitution - Missense
TIAM2ENSG00000146426ENST00000456144p.S355Fc.1064C>TSubstitution - Missense
ADTRPENSG00000111863ENST00000229583p.R87Kc.260G>ASubstitution - Missense
AASDHENSG00000157426ENST00000502617p.P746Tc.2236C>ASubstitution - Missense
SRGAP3ENSG00000196220ENST00000360413p.R674Rc.2022G>ASubstitution - coding silent
SLC9B2ENSG00000164038ENST00000339611p.D278Gc.833A>GSubstitution - Missense
SLC26A6ENSG00000225697ENST00000383733p.F393Fc.1179C>TSubstitution - coding silent
SLC26A6ENSG00000225697ENST00000383733p.N167Kc.501C>GSubstitution - Missense
C3orf67ENSG00000163689ENST00000482387p.D131Dc.393T>CSubstitution - coding silent
SNRNP200ENSG00000144028ENST00000349783p.T495Mc.1484C>TSubstitution - Missense
COL3A1ENSG00000168542ENST00000317840p.G870Ec.2609G>ASubstitution - Missense
OSBPL6ENSG00000079156ENST00000315022p.P811Sc.2431C>TSubstitution - Missense
HPCAL1ENSG00000115756ENST00000381765p.Y115*c.345C>ASubstitution - Nonsense
ERGENSG00000157554ENST00000288319p.D391Nc.1171G>ASubstitution - Missense
ZSWIM3ENSG00000132801ENST00000255152p.S656Pc.1966T>CSubstitution - Missense
ZSWIM3ENSG00000132801ENST00000454862p.S650Pc.1948T>CSubstitution - Missense
L3MBTL1ENSG00000185513ENST00000427442p.H570Pc.1709A>CSubstitution - Missense
L3MBTL1ENSG00000185513ENST00000373134p.H502Pc.1505A>CSubstitution - Missense
CLEC4MENSG00000104938ENST00000327325p.?c.131-10C>TUnknown
ENST00000358661p.T143Ic.428C>TSubstitution - Missense
SUGP2ENSG00000064607ENST00000452918p.L354Lc.1062C>TSubstitution - coding silent
DCCENSG00000187323ENST00000412726p.R321Rc.963G>ASubstitution - coding silent
HMHA1ENSG00000180448ENST00000536472p.P410Tc.1228C>ASubstitution - Missense
TERF2ENSG00000132604ENST00000567296p.L87Fc.259C>TSubstitution - Missense
PMLENSG00000140464ENST00000569477p.P67Pc.201G>ASubstitution - coding silent
NINENSG00000100503ENST00000453196p.S1734Gc.5200A>GSubstitution - Missense
ENST00000569393_v68p.E163Kc.487G>ASubstitution - Missense
TEX38ENSG00000186118ENST00000569393p.E163Kc.487G>ASubstitution - Missense
OR2G6ENSG00000188558ENST00000343414p.Q159*c.475C>TSubstitution - Nonsense
VWA5B1ENSG00000158816ENST00000375083p.E281Kc.841G>ASubstitution - Missense
RABGAP1LENSG00000152061ENST00000357444p.P232Lc.695C>TSubstitution - Missense
RABGAP1LENSG00000152061ENST00000457696p.P269Lc.806C>TSubstitution - Missense
RABGAP1LENSG00000152061ENST00000357444p.P232Pc.696C>TSubstitution - coding silent
RABGAP1LENSG00000152061ENST00000457696p.P269Pc.807C>TSubstitution - coding silent
FCRLAENSG00000132185ENST00000540926p.H53Yc.157C>TSubstitution - Missense
NTNG1ENSG00000162631ENST00000542803p.S8Wc.23C>GSubstitution - Missense
NBEAENSG00000172915ENST00000400445p.G2742Ec.8225G>ASubstitution - Missense
KRT80ENSG00000167767ENST00000313234p.E349Kc.1045G>ASubstitution - Missense
LRIG3ENSG00000139263ENST00000379141p.I603Ic.1809C>TSubstitution - coding silent
SCARB1ENSG00000073060ENST00000339570p.H375Pc.1124A>CSubstitution - Missense
SCARB1ENSG00000073060ENST00000540495p.H338Pc.1013A>CSubstitution - Missense
TMEM132DENSG00000151952ENST00000389441p.R87Rc.261G>ASubstitution - coding silent
ENST00000457912_v65p.R16Rc.48G>ASubstitution - coding silent
SMTNL1ENSG00000214872ENST00000457912p.R16Rc.48G>ASubstitution - coding silent
OR52E2ENSG00000176787ENST00000321522p.G43Gc.129G>ASubstitution - coding silent
NM_032681.1p.E185*c.553G>TSubstitution - Nonsense
ENST00000327733p.E344*c.1030G>TSubstitution - Nonsense
TRIP4ENSG00000103671ENST00000261884p.S142Sc.426C>TSubstitution - coding silent
NTNG1ENSG00000162631ENST00000370071p.S8Wc.23C>GSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.S2066Pc.6196T>CSubstitution - Missense
PRDM2ENSG00000116731ENST00000235372p.G520Gc.1560C>TSubstitution - coding silent
SFSWAPENSG00000061936ENST00000261674p.F255Fc.765C>TSubstitution - coding silent
CCP110ENSG00000103540ENST00000396212p.?c.2485-8T>AUnknown
SNX29ENSG00000048471ENST00000323433p.S407Fc.1220C>TSubstitution - Missense
SPENENSG00000065526ENST00000375759p.S3635Fc.10904C>TSubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.F461Fc.1383C>TSubstitution - coding silent
APCSENSG00000132703ENST00000255040p.H38Yc.112C>TSubstitution - Missense
AHCTF1ENSG00000153207ENST00000391829p.A40Vc.119C>TSubstitution - Missense
OR10K1ENSG00000173285ENST00000289451p.H165Yc.493C>TSubstitution - Missense
RNLSENSG00000184719ENST00000331772p.E336*c.1006G>TSubstitution - Nonsense
SLC25A30ENSG00000174032ENST00000519676p.G51Rc.151G>ASubstitution - Missense
OR4K2ENSG00000165762ENST00000298642p.F244Fc.732C>TSubstitution - coding silent
MORC1ENSG00000114487ENST00000232603p.?c.2085+5G>AUnknown
DNAH8ENSG00000124721ENST00000449981p.E3861Kc.11581G>ASubstitution - Missense
VAV1ENSG00000141968ENST00000602142p.P615Pc.1845C>TSubstitution - coding silent
IL23RENSG00000162594ENST00000425614p.?c.84-8C>TUnknown
ATXN2LENSG00000168488ENST00000340394p.L523Lc.1567C>TSubstitution - coding silent
CSMD2ENSG00000121904ENST00000338325p.F18Fc.54C>TSubstitution - coding silent
NEDD1ENSG00000139350ENST00000557644p.H666Yc.1996C>TSubstitution - Missense
FAM129BENSG00000136830ENST00000373314p.?c.551-9C>TUnknown
NM_133170.2p.P985Pc.2955G>ASubstitution - coding silent
PRXENSG00000105227ENST00000324001p.G1182Dc.3545G>ASubstitution - Missense
GRHL2ENSG00000083307ENST00000251808p.D547Dc.1641C>TSubstitution - coding silent
SH3RF2ENSG00000156463ENST00000359120p.P50Lc.149C>TSubstitution - Missense
TROENSG00000067445ENST00000319167p.G608Dc.1823G>ASubstitution - Missense
IFNA8ENSG00000120242ENST00000380205p.I150Fc.448A>TSubstitution - Missense
FOXD4L1ENSG00000184492ENST00000306507p.R94Kc.281G>ASubstitution - Missense
ENSG00000176593ENST00000313957p.P299Lc.896C>TSubstitution - Missense
GOLGA4ENSG00000144674ENST00000361924p.Q2035Pc.6104A>CSubstitution - Missense
ATP2B2ENSG00000157087ENST00000383800p.S563Fc.1688C>TSubstitution - Missense
NR1D1ENSG00000126368ENST00000246672p.G248Dc.743G>ASubstitution - Missense
DGKIENSG00000157680ENST00000288490p.L782Lc.2346G>ASubstitution - coding silent
CHD3ENSG00000170004ENST00000330494p.E1611Gc.4832A>GSubstitution - Missense
SCN4AENSG00000007314ENST00000435607p.Q479Qc.1437G>ASubstitution - coding silent
CCDC40ENSG00000141519ENST00000397545p.S742Fc.2225C>TSubstitution - Missense
ASXL3ENSG00000141431ENST00000269197p.S1261Fc.3782C>TSubstitution - Missense
ERBB4ENSG00000178568ENST00000342788p.G127Ec.380G>ASubstitution - Missense
KIR3DL3ENSG00000242019ENST00000291860p.?c.1107+10C>TUnknown
ENST00000356127p.E5192Kc.15574G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.R4567Qc.13700G>ASubstitution - Missense
PTAFRENSG00000169403ENST00000305392p.F55Fc.165C>TSubstitution - coding silent
TRIM63ENSG00000158022ENST00000374272p.S344Fc.1031C>TSubstitution - Missense
MRGPRX1ENSG00000170255ENST00000302797p.L295Lc.883C>TSubstitution - coding silent
NBEAENSG00000172915ENST00000310336p.G2742Ec.8225G>ASubstitution - Missense
OPRD1ENSG00000116329ENST00000234961p.I282Ic.846C>TSubstitution - coding silent
PLCH2ENSG00000149527ENST00000378486p.E534Ec.1602G>ASubstitution - coding silent
KRT84ENSG00000161849ENST00000257951p.P149Rc.446C>GSubstitution - Missense
MMP14ENSG00000157227ENST00000311852p.G321Ec.962G>ASubstitution - Missense
LYSTENSG00000143669ENST00000389793p.Q2147Qc.6441A>GSubstitution - coding silent
C2CD3ENSG00000168014ENST00000313663p.R1486Gc.4456A>GSubstitution - Missense
SORBS1ENSG00000095637ENST00000371247p.P83Sc.247C>TSubstitution - Missense
SH2D5ENSG00000189410ENST00000444387p.A63Ac.189C>TSubstitution - coding silent
ANKRD11ENSG00000167522ENST00000301030p.A416Ac.1248G>ASubstitution - coding silent
SYTL4ENSG00000102362ENST00000372981p.K103Nc.309G>TSubstitution - Missense
ARHGEF9ENSG00000131089ENST00000374878p.A417Vc.1250C>TSubstitution - Missense
UTP14AENSG00000156697ENST00000371042p.I412Kc.1235T>ASubstitution - Missense
FRMPD1ENSG00000070601ENST00000541302p.R130Rc.390G>ASubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000393061p.H656Hc.1968C>TSubstitution - coding silent
CACNA1BENSG00000148408ENST00000277549p.V598Ic.1792G>ASubstitution - Missense
TRAF1ENSG00000056558ENST00000373887p.T288Tc.864C>TSubstitution - coding silent
WDR38ENSG00000136918ENST00000373574p.G287Gc.861G>ASubstitution - coding silent
GYPEENSG00000197465ENST00000358615p.G13Gc.39A>GSubstitution - coding silent
ENST00000272666p.G613Ec.1838G>ASubstitution - Missense
CLEC4FENSG00000152672ENST00000272367p.S405Fc.1214C>TSubstitution - Missense
ENSG00000176593ENST00000313957p.P299Lc.896C>TSubstitution - Missense
ATP2B2ENSG00000157087ENST00000360273p.S608Fc.1823C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.S15587Lc.46760C>TSubstitution - Missense
MGAMENSG00000257335ENST00000549489p.G1152Gc.3456G>CSubstitution - coding silent
MGAMENSG00000257335ENST00000549489p.G1152Gc.3456G>CSubstitution - coding silent
FRG2CENSG00000172969ENST00000308062p.I101Ic.303C>TSubstitution - coding silent
JMJD6ENSG00000070495ENST00000397625p.T184Tc.552T>CSubstitution - coding silent
ENST00000456956p.L201Lc.603C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.S7076Fc.21227C>TSubstitution - Missense
CDRT1ENSG00000241322ENST00000395906p.L170Lc.510C>TSubstitution - coding silent
COL3A1ENSG00000168542ENST00000304636p.G1173Ec.3518G>ASubstitution - Missense
C1orf173ENSG00000178965ENST00000326665p.G429Gc.1287G>ASubstitution - coding silent
PPP1R36ENSG00000165807ENST00000298705p.E70Kc.208G>ASubstitution - Missense
CGNL1ENSG00000128849ENST00000281282p.H1135Yc.3403C>TSubstitution - Missense
ENST00000338282p.E1742Kc.5224G>ASubstitution - Missense
IL31ENSG00000204671ENST00000377035p.L14Lc.40C>TSubstitution - coding silent
PAPLNENSG00000100767ENST00000340738p.L975Vc.2923C>GSubstitution - Missense
ATF7IP2ENSG00000166669ENST00000396560p.D252Nc.754G>ASubstitution - Missense
KIAA1522ENSG00000162522ENST00000401073p.?c.3263-4C>TUnknown
N4BP2L1ENSG00000139597ENST00000380139p.D75Nc.223G>ASubstitution - Missense
NM_032738.3p.H47Yc.139C>TSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.T4535Tc.13605G>ASubstitution - coding silent
SLCO1B3ENSG00000111700ENST00000381545p.G76Ec.227G>ASubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.?c.3971-8C>TUnknown
HECTD4ENSG00000173064ENST00000377560p.F1181Fc.3543C>TSubstitution - coding silent
CSMD3ENSG00000164796ENST00000343508p.E2468Kc.7402G>ASubstitution - Missense
TEX11ENSG00000120498ENST00000374333p.H333Yc.997C>TSubstitution - Missense
ERGENSG00000157554ENST00000417133p.D398Nc.1192G>ASubstitution - Missense
TMEM87BENSG00000153214ENST00000283206p.R429Cc.1285C>TSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.P2517Sc.7549C>TSubstitution - Missense
COL4A5ENSG00000188153ENST00000328300p.N125Kc.375T>GSubstitution - Missense
CNTLNENSG00000044459ENST00000262360p.E1011*c.3031G>TSubstitution - Nonsense
L3MBTL1ENSG00000185513ENST00000422861p.H288Pc.863A>CSubstitution - Missense
ZNF181ENSG00000197841ENST00000392232p.S212Sc.636T>ASubstitution - coding silent
ENST00000326876p.S237Fc.710C>TSubstitution - Missense
NFIAENSG00000162599ENST00000371191p.L99Lc.295C>TSubstitution - coding silent
ATP13A5ENSG00000187527ENST00000342358p.E894Kc.2680G>ASubstitution - Missense
STOMENSG00000148175ENST00000286713p.Y252*c.756C>ASubstitution - Nonsense
PTPRTENSG00000196090ENST00000373184p.P953Pc.2859G>ASubstitution - coding silent
SNX18ENSG00000178996ENST00000381410p.F327Lc.981C>GSubstitution - Missense
IFRD1ENSG00000006652ENST00000005558p.?c.1042-10C>TUnknown
ENST00000369584p.E286Kc.856G>ASubstitution - Missense
MEF2BNB-MEF2BENSG00000064489ENST00000354191p.R100Pc.299G>CSubstitution - Missense
ZNF366ENSG00000178175ENST00000318442p.M552Vc.1654A>GSubstitution - Missense
CPNE4ENSG00000196353ENST00000512332p.S452Lc.1355C>TSubstitution - Missense
IFT122ENSG00000163913ENST00000296266p.E759Kc.2275G>ASubstitution - Missense
ENST00000381114p.I666Ic.1998C>TSubstitution - coding silent
MBNL1ENSG00000152601ENST00000545754p.P266Sc.796C>TSubstitution - Missense
PRDM9ENSG00000164256ENST00000296682p.?c.193+8G>AUnknown
TRANK1ENSG00000168016ENST00000429976p.T1278Mc.3833C>TSubstitution - Missense
DLEC1ENSG00000008226ENST00000308059p.M1606Tc.4817T>CSubstitution - Missense
ZNF845ENSG00000213799ENST00000458035p.I707Vc.2119A>GSubstitution - Missense
RPL17-C18orf32ENSG00000215472ENST00000577910p.N64Sc.191A>GSubstitution - Missense
DENND2AENSG00000146966ENST00000275884p.R425*c.1273C>TSubstitution - Nonsense
PARP3ENSG00000041880ENST00000398755p.L492Lc.1474T>CSubstitution - coding silent
DGKIENSG00000157680ENST00000288490p.W884*c.2651G>ASubstitution - Nonsense
ABCG1ENSG00000160179ENST00000361802p.F66Sc.197T>CSubstitution - Missense
SEC14L5ENSG00000103184ENST00000251170p.L474Fc.1420C>TSubstitution - Missense
SCINENSG00000006747ENST00000297029p.E173Kc.517G>ASubstitution - Missense
ELAC2ENSG00000006744ENST00000338034p.?c.297-4T>CUnknown
PCSK2ENSG00000125851ENST00000262545p.?c.621-1G>AUnknown
MAGI1ENSG00000151276ENST00000402939p.P1234Lc.3701C>TSubstitution - Missense
TTNENSG00000155657ENST00000360870p.L3610Lc.10830G>ASubstitution - coding silent
HIBCHENSG00000198130ENST00000359678p.?c.386-1G>AUnknown
OPRK1ENSG00000082556ENST00000265572p.I243Ic.729C>TSubstitution - coding silent
TSHRENSG00000165409ENST00000541158p.M637Ic.1911G>ASubstitution - Missense
SPG11ENSG00000104133ENST00000261866p.R2293Qc.6878G>ASubstitution - Missense
ATP2B4ENSG00000058668ENST00000357681p.S61Fc.182C>TSubstitution - Missense
OR4M2ENSG00000182974ENST00000332663p.E312*c.934G>TSubstitution - Nonsense
ACSM4ENSG00000215009ENST00000399422p.?c.413-5C>TUnknown
ATMENSG00000149311ENST00000278616p.A1670Vc.5009C>TSubstitution - Missense
C14orf1ENSG00000133935ENST00000256319p.?c.344-1G>AUnknown
COPB1ENSG00000129083ENST00000249923p.?c.2556+7C>TUnknown
COL17A1ENSG00000065618ENST00000353479p.G894Rc.2680G>ASubstitution - Missense
NM_018979p.S1300Fc.3899C>TSubstitution - Missense
NRG3ENSG00000185737ENST00000372142p.S116Fc.347C>TSubstitution - Missense
GPALPP1ENSG00000133114ENST00000379151p.P96Lc.287C>TSubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.D2846Ec.8538C>ASubstitution - Missense
SLC45A1ENSG00000162426ENST00000377479p.G455Dc.1364G>ASubstitution - Missense
CPNE6ENSG00000100884ENST00000537691p.E314Kc.940G>ASubstitution - Missense
OR51I2ENSG00000187918ENST00000341449p.L20Lc.58C>TSubstitution - coding silent
HAUS8ENSG00000131351ENST00000253669p.S160Sc.480C>TSubstitution - coding silent
CDC5LENSG00000096401ENST00000371477p.E250Ec.750G>ASubstitution - coding silent
ENST00000388903p.R112Rc.336G>ASubstitution - coding silent
WDR87ENSG00000171804ENST00000303868p.I2768Ic.8304C>TSubstitution - coding silent
PCDHB3ENSG00000113205ENST00000231130p.R633Sc.1897C>ASubstitution - Missense
LPOENSG00000167419ENST00000262290p.T654Tc.1962G>ASubstitution - coding silent
ATXN2LENSG00000168488ENST00000336783p.L523Lc.1567C>TSubstitution - coding silent
ENST00000358511_v70p.E1021Kc.3061G>ASubstitution - Missense
RABL5ENSG00000128581ENST00000315322p.?c.206+9C>TUnknown
SEMA5BENSG00000082684ENST00000357599p.T1100Tc.3300C>TSubstitution - coding silent
ANXA5ENSG00000164111ENST00000296511p.T268Tc.804C>TSubstitution - coding silent
OGG1ENSG00000114026ENST00000344629p.M11fs*22c.29_30insCInsertion - Frameshift
SMAD7ENSG00000101665ENST00000262158p.S303Lc.908C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.A11375Ec.34124C>ASubstitution - Missense
DLX1ENSG00000144355ENST00000361725p.P13Lc.38C>TSubstitution - Missense
ENST00000242365_v65p.P204Sc.610C>TSubstitution - Missense
NAPRT1ENSG00000147813ENST00000340490p.P66Sc.196C>TSubstitution - Missense
SHANK1ENSG00000161681ENST00000293441p.I891Ic.2673C>TSubstitution - coding silent
ZACNENSG00000186919ENST00000334586p.N156Sc.467A>GSubstitution - Missense
IL23RENSG00000162594ENST00000347310p.?c.799-8C>TUnknown
ARGLU1ENSG00000134884ENST00000400198p.S6Sc.18C>TSubstitution - coding silent
DNAH10ENSG00000197653ENST00000409039p.I586Vc.1756A>GSubstitution - Missense
MYH11ENSG00000133392ENST00000396324p.E1749Kc.5245G>ASubstitution - Missense
KCNC2ENSG00000166006ENST00000549446p.L335Lc.1003C>TSubstitution - coding silent
RXFP2ENSG00000133105ENST00000298386p.R496Hc.1487G>ASubstitution - Missense
F5ENSG00000198734ENST00000367797p.R1827Sc.5481G>CSubstitution - Missense
CSF3RENSG00000119535ENST00000373104p.R484Tc.1451G>CSubstitution - Missense
ENST00000368526p.?c.566-3C>AUnknown
NM_182507.1p.E384Kc.1150G>ASubstitution - Missense
ANKRD36ENSG00000135976ENST00000461153p.G4Dc.11G>ASubstitution - Missense
SUN3ENSG00000164744ENST00000453192p.I320Ic.960C>TSubstitution - coding silent
DENND2AENSG00000146966ENST00000492720p.S408Fc.1223C>TSubstitution - Missense
ZNF560ENSG00000198028ENST00000301480p.R311Rc.933G>ASubstitution - coding silent
PHYHIPLENSG00000165443ENST00000373880p.S245Lc.734C>TSubstitution - Missense
FRMPD1ENSG00000070601ENST00000541302p.P135Lc.404C>TSubstitution - Missense
ATXN2LENSG00000168488ENST00000325215p.L523Lc.1567C>TSubstitution - coding silent
CXADRENSG00000154639ENST00000400169p.L302Lc.904C>TSubstitution - coding silent
ABRAENSG00000174429ENST00000311955p.S168Fc.503C>TSubstitution - Missense
NTRK2ENSG00000148053ENST00000376214p.D835Hc.2503G>CSubstitution - Missense
ZNF529ENSG00000186020ENST00000334116p.N47Dc.139A>GSubstitution - Missense
ANKFY1ENSG00000185722ENST00000574367p.T535Sc.1604C>GSubstitution - Missense
FAM105AENSG00000145569ENST00000274217p.R274Rc.822G>ASubstitution - coding silent
C6orf58ENSG00000184530ENST00000329722p.R109Gc.325A>GSubstitution - Missense
ATP6AP1LENSG00000205464ENST00000380167p.S144Fc.431C>TSubstitution - Missense
TEX11ENSG00000120498ENST00000395889p.H348Yc.1042C>TSubstitution - Missense
UTP14AENSG00000156697ENST00000371042p.I412Lc.1234A>TSubstitution - Missense
AASDHENSG00000157426ENST00000502617p.P746Lc.2237C>TSubstitution - Missense
DGKIENSG00000157680ENST00000424189p.L785Lc.2355G>ASubstitution - coding silent
ENST00000395988p.L414Lc.1242G>ASubstitution - coding silent
TRIM64CENSG00000214891ENST00000530230p.D145Nc.433G>ASubstitution - Missense
FAM83DENSG00000101447ENST00000217429p.S469Lc.1406C>TSubstitution - Missense
ENST00000458336p.W694*c.2081G>ASubstitution - Nonsense
EGFRENSG00000146648ENST00000344576p.S306Lc.917C>TSubstitution - Missense
GLRA1ENSG00000145888ENST00000274576p.P107Lc.320C>TSubstitution - Missense
SLC26A6ENSG00000225697ENST00000395550p.N167Kc.501C>GSubstitution - Missense
CSF2RBENSG00000100368ENST00000403662p.A255Vc.764C>TSubstitution - Missense
COL21A1ENSG00000124749ENST00000244728p.?c.1278+9G>AUnknown
PHF3ENSG00000118482ENST00000262043p.R1348Hc.4043G>ASubstitution - Missense
COL19A1ENSG00000082293ENST00000322773p.S14Sc.42A>CSubstitution - coding silent
MTMR8ENSG00000102043ENST00000374852p.?c.865+8G>AUnknown
MUC12ENSG00000205277ENST00000536621p.S440Fc.1319C>TSubstitution - Missense
ENST00000265148.1p.A642Ac.1926C>TSubstitution - coding silent
ANK1ENSG00000029534ENST00000347528p.I245Ic.735C>TSubstitution - coding silent
ABCG1ENSG00000160179ENST00000398457p.F68Sc.203T>CSubstitution - Missense
PTGISENSG00000124212ENST00000244043p.?c.674-6C>AUnknown
DNAH2ENSG00000183914ENST00000389173p.L2136Fc.6406C>TSubstitution - Missense
KLK1ENSG00000167748ENST00000301420p.?c.207-5C>TUnknown
UTP14AENSG00000156697ENST00000394422p.I580Kc.1739T>ASubstitution - Missense
NT5MENSG00000205309ENST00000389022p.?c.430-7C>TUnknown
MUC16ENSG00000181143ENST00000397910p.V5957Ac.17870T>CSubstitution - Missense
PKD1L2ENSG00000166473ENST00000525539p.E1716Ec.5148G>ASubstitution - coding silent
ARHGAP29ENSG00000137962ENST00000260526p.R348Cc.1042C>TSubstitution - Missense
ADAMTS17ENSG00000140470ENST00000268070p.V626Ac.1877T>CSubstitution - Missense
ATP2B4ENSG00000058668ENST00000367218p.S61Fc.182C>TSubstitution - Missense
ENST00000375089p.E281Kc.841G>ASubstitution - Missense
PTHLHENSG00000087494ENST00000354417p.T176Tc.528A>CSubstitution - coding silent
SLC6A9ENSG00000196517ENST00000360584p.R665Cc.1993C>TSubstitution - Missense
CAPN1ENSG00000014216ENST00000279247p.F265Fc.795C>TSubstitution - coding silent
OR4D6ENSG00000166884ENST00000300127p.F114Fc.342C>TSubstitution - coding silent
ENST00000336486p.?c.145-6C>AUnknown
OR10K2ENSG00000180708ENST00000314902p.L66Fc.196C>TSubstitution - Missense
ENSG00000180574ENST00000538173p.G409Rc.1225G>ASubstitution - Missense
ITPR1ENSG00000150995ENST00000302640p.E757Kc.2269G>ASubstitution - Missense
SLITRK1ENSG00000178235ENST00000377084p.P283Sc.847C>TSubstitution - Missense
TMEM67ENSG00000164953ENST00000453321p.R764*c.2290C>TSubstitution - Nonsense
ENST00000360191p.S272Pc.814T>CSubstitution - Missense
ENST00000454161p.Q933Hc.2799G>CSubstitution - Missense
ENST00000340070p.D144Nc.430G>ASubstitution - Missense
PAX4ENSG00000106331ENST00000338516p.R45Rc.135G>ASubstitution - coding silent
NRXN1ENSG00000179915ENST00000402717p.R847Qc.2540G>ASubstitution - Missense
CYP4F2ENSG00000186115ENST00000221700p.?c.397+6T>AUnknown
CASKIN1ENSG00000167971ENST00000343516p.P111Lc.332C>TSubstitution - Missense
CDHR2ENSG00000074276ENST00000261944p.R1023Rc.3069G>ASubstitution - coding silent
ENST00000373263p.D689Dc.2067T>CSubstitution - coding silent
LDOC1ENSG00000182195ENST00000370526p.P65Pc.195C>TSubstitution - coding silent
BCLAF1ENSG00000029363ENST00000531224p.P471Sc.1411C>TSubstitution - Missense
LCN1ENSG00000160349ENST00000263598p.E122Kc.364G>ASubstitution - Missense
SLC30A8ENSG00000164756ENST00000456015p.G156Gc.468C>TSubstitution - coding silent
SOCS6ENSG00000170677ENST00000397942p.T428Ic.1283C>TSubstitution - Missense
CD96ENSG00000153283ENST00000283285p.S383Fc.1148C>TSubstitution - Missense
MYO7BENSG00000169994ENST00000428314p.G613Ec.1838G>ASubstitution - Missense
GPR17ENSG00000144230ENST00000393018p.E129Kc.385G>ASubstitution - Missense
AFF3ENSG00000144218ENST00000356421p.E765Kc.2293G>ASubstitution - Missense
ANKRD36ENSG00000135976ENST00000461153p.K924fs*4c.2765delGDeletion - Frameshift
LILRB2ENSG00000131042ENST00000314446p.D212Nc.634G>ASubstitution - Missense
ENST00000426361p.?c.35-7C>TUnknown
PRDM15ENSG00000141956ENST00000269844p.A356Ac.1068G>ASubstitution - coding silent
GEMIN4ENSG00000179409ENST00000319004p.V939Mc.2815G>ASubstitution - Missense
CDH18ENSG00000145526ENST00000507958p.P278Sc.832C>TSubstitution - Missense
DPPA4ENSG00000121570ENST00000335658p.A67Tc.199G>ASubstitution - Missense
MYH4ENSG00000264424ENST00000255381p.L989Lc.2967G>ASubstitution - coding silent
OTOFENSG00000115155ENST00000272371p.P1030Lc.3089C>TSubstitution - Missense
MYH8ENSG00000133020ENST00000403437p.?c.3862+1G>AUnknown
KIR2DL4ENSG00000189013ENST00000359085p.P209Sc.625C>TSubstitution - Missense
HIST1H4DENSG00000188987ENST00000340756p.F62Fc.186C>TSubstitution - coding silent
MGAMENSG00000257335ENST00000549489p.?c.1960-4C>TUnknown
SNRNP200ENSG00000144028ENST00000323853p.T495Mc.1484C>TSubstitution - Missense
SEC14L5ENSG00000103184ENST00000251170p.F473Fc.1419C>TSubstitution - coding silent
SLC5A3ENSG00000198743ENST00000381151p.W261*c.782G>ASubstitution - Nonsense
SLC39A6ENSG00000141424ENST00000269187p.S743Sc.2229C>TSubstitution - coding silent
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
SLC26A7ENSG00000147606ENST00000309536p.?c.1026+4G>TUnknown
MID1ENSG00000101871ENST00000453318p.P655Lc.1964C>TSubstitution - Missense
TSHZ2ENSG00000182463ENST00000371497p.R199*c.595C>TSubstitution - Nonsense
ENST00000356127p.R3494Qc.10481G>ASubstitution - Missense
CRTC2ENSG00000160741ENST00000368633p.L505Qc.1514T>ASubstitution - Missense
CD3EENSG00000198851ENST00000361763p.?c.49+9G>AUnknown
MMP13ENSG00000137745ENST00000260302p.L52Fc.154C>TSubstitution - Missense
DSCAML1ENSG00000177103ENST00000321322p.K866Kc.2598G>ASubstitution - coding silent
SLC6A9ENSG00000196517ENST00000372310p.R592Cc.1774C>TSubstitution - Missense
VRTNENSG00000133980ENST00000256362p.P420Sc.1258C>TSubstitution - Missense
ENST00000336486p.?c.145-7C>TUnknown
SLC5A8ENSG00000256870ENST00000536262p.?c.470-6C>TUnknown
CDX2ENSG00000165556ENST00000381020p.E280Ec.840G>ASubstitution - coding silent
CNTFENSG00000242689ENST00000361987p.T99Tc.297C>TSubstitution - coding silent
OBSCNENSG00000154358ENST00000570156p.S2587Fc.7760C>TSubstitution - Missense
NRG3ENSG00000185737ENST00000372141p.S337Fc.1010C>TSubstitution - Missense
PIGRENSG00000162896ENST00000356495p.S70Sc.210G>ASubstitution - coding silent
PLEKHN1ENSG00000187583ENST00000379409p.S4Tc.11G>CSubstitution - Missense
CAMK4ENSG00000152495ENST00000512453p.G375Rc.1123G>ASubstitution - Missense
FBN2ENSG00000138829ENST00000508053p.R999Cc.2995C>TSubstitution - Missense
COL21A1ENSG00000124749ENST00000535941p.?c.1282+5G>AUnknown
P2RX6ENSG00000099957ENST00000413302p.G252Ec.755G>ASubstitution - Missense
FAM91A1ENSG00000176853ENST00000334705p.N267Hc.799A>CSubstitution - Missense
OR51G2ENSG00000176893ENST00000322013p.H61Yc.181C>TSubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.R3011Qc.9032G>ASubstitution - Missense
MOSPD2ENSG00000130150ENST00000380492p.R482Rc.1446G>ASubstitution - coding silent
NLE1ENSG00000073536ENST00000442241p.T250Ac.748A>GSubstitution - Missense
USP6ENSG00000129204ENST00000250066p.?c.2829-3C>TUnknown
MTMR8ENSG00000102043ENST00000453546p.?c.865+8G>AUnknown
CDKN1AENSG00000124762ENST00000244741p.I42Ic.126C>TSubstitution - coding silent
COL4A3ENSG00000169031ENST00000396578p.G262Rc.784G>ASubstitution - Missense
ANKRD50ENSG00000151458ENST00000504087p.S1234Fc.3701C>TSubstitution - Missense
CDH18ENSG00000145526ENST00000382275p.P278Sc.832C>TSubstitution - Missense
DMDENSG00000198947ENST00000357033p.E929Ec.2787G>ASubstitution - coding silent
CNOT3ENSG00000088038ENST00000221232p.I132Ic.396C>TSubstitution - coding silent
RPL17ENSG00000265681ENST00000579408p.N64Sc.191A>GSubstitution - Missense
DCCENSG00000187323ENST00000442544p.R473Rc.1419G>ASubstitution - coding silent
NM_024657.2p.T142Tc.426C>TSubstitution - coding silent
JMJD6ENSG00000070495ENST00000445478p.T184Tc.552T>CSubstitution - coding silent
HOXB5ENSG00000120075ENST00000239151p.P192Lc.575C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.H1497Yc.4489C>TSubstitution - Missense
TRIM63ENSG00000158022ENST00000374272p.S344Sc.1032C>TSubstitution - coding silent
FOXD2ENSG00000186564ENST00000334793p.E166Dc.498G>TSubstitution - Missense
ENST00000298047_v61p.P4480Sc.13438C>TSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.P1751Ac.5251C>GSubstitution - Missense
TICRRENSG00000140534ENST00000268138p.P487Lc.1460C>TSubstitution - Missense
ACANENSG00000157766ENST00000439576p.G1468Rc.4402G>ASubstitution - Missense
MYH6ENSG00000197616ENST00000356287p.A182Ac.546G>ASubstitution - coding silent
CDONENSG00000064309ENST00000263577p.I773Mc.2319C>GSubstitution - Missense
ENST00000543899p.E280Ec.840G>ASubstitution - coding silent
CUX2ENSG00000111249ENST00000261726p.M1122Ic.3366G>ASubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.E1589Kc.4765G>ASubstitution - Missense
XM_031689.7p.S943Sc.2829A>GSubstitution - coding silent
NFIAENSG00000162599ENST00000371189p.L121Lc.361C>TSubstitution - coding silent
KCNC2ENSG00000166006ENST00000341669p.L335Lc.1003C>TSubstitution - coding silent
CAPS2ENSG00000180881ENST00000328705p.A170fs*3c.499_500insATCAAATAInsertion - Frameshift
CD163ENSG00000177575ENST00000396620p.E825Kc.2473G>ASubstitution - Missense
PPIEENSG00000084072ENST00000356511p.S138Pc.412T>CSubstitution - Missense
SV2BENSG00000185518ENST00000394232p.P412Sc.1234C>TSubstitution - Missense
FRYENSG00000073910ENST00000380250p.I418Lc.1252A>CSubstitution - Missense
NBEAENSG00000172915ENST00000379922p.G320Ec.959G>ASubstitution - Missense
ENST00000333815p.?c.2807-3C>AUnknown
OBSCNENSG00000154358ENST00000284548p.S2403Fc.7208C>TSubstitution - Missense
PMLENSG00000140464ENST00000268059p.P67Pc.201G>ASubstitution - coding silent
CXADRENSG00000154639ENST00000400169p.A144Ac.432G>ASubstitution - coding silent
DNAH3ENSG00000158486ENST00000261383p.E518Kc.1552G>ASubstitution - Missense
ZNF334ENSG00000198185ENST00000347606p.S418Yc.1253C>ASubstitution - Missense
RGS22ENSG00000132554ENST00000360863p.P167Lc.500C>TSubstitution - Missense
WDR87ENSG00000171804ENST00000447313p.I2807Ic.8421C>TSubstitution - coding silent
ENSG00000272514ENST00000369562p.Q277*c.829C>TSubstitution - Nonsense
CDC23ENSG00000094880ENST00000394886p.?c.1362+4C>TUnknown
MSH2ENSG00000095002ENST00000233146p.S515Sc.1545C>TSubstitution - coding silent
NTRK2ENSG00000148053ENST00000376214p.D835Hc.2503G>CSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.H547Hc.1641C>TSubstitution - coding silent
KCNV1ENSG00000164794ENST00000524391p.G495Rc.1483G>ASubstitution - Missense
CSF2ENSG00000164400ENST00000296871p.P109Sc.325C>TSubstitution - Missense
ADTRPENSG00000111863ENST00000379413p.R69Kc.206G>ASubstitution - Missense
DZIP1LENSG00000158163ENST00000327532p.D647Dc.1941C>TSubstitution - coding silent
BCL11AENSG00000119866ENST00000356842p.F346Lc.1038C>GSubstitution - Missense
ARHGEF4ENSG00000136002ENST00000355771p.Q40Qc.120G>ASubstitution - coding silent
TUBA3DENSG00000075886ENST00000321253p.L428Vc.1282C>GSubstitution - Missense
GDPD3ENSG00000102886ENST00000406256p.?c.365-5C>TUnknown
EPB41L5ENSG00000115109ENST00000443124p.R335Qc.1004G>ASubstitution - Missense
ACSL3ENSG00000123983ENST00000357430p.K596Ic.1787A>TSubstitution - Missense
UNC5DENSG00000156687ENST00000287272p.L897Lc.2691G>ASubstitution - coding silent
ZFHX4ENSG00000091656ENST00000521891p.P2322Sc.6964C>TSubstitution - Missense
PARM1ENSG00000169116ENST00000307428p.V304Vc.912G>ASubstitution - coding silent
CNTROBENSG00000170037ENST00000380262p.?c.828+6C>TUnknown
MAST1ENSG00000105613ENST00000251472p.I281Ic.843C>TSubstitution - coding silent
SLC44A5ENSG00000137968ENST00000370855p.S515Sc.1545C>TSubstitution - coding silent
NUDCENSG00000090273ENST00000321265p.V185Vc.555C>TSubstitution - coding silent
ITGA3ENSG00000005884ENST00000007722p.F259Fc.777C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313382p.H511Yc.1531C>TSubstitution - Missense
ACSM4ENSG00000215009ENST00000399422p.?c.413-5C>TUnknown
IL10RAENSG00000110324ENST00000227752p.?c.368-7C>TUnknown
NOTCH2ENSG00000134250ENST00000256646p.P1417Pc.4251C>TSubstitution - coding silent
COX15ENSG00000014919ENST00000016171p.S292Sc.876C>ASubstitution - coding silent
F5ENSG00000198734ENST00000367797p.V94Vc.282C>TSubstitution - coding silent
NLRP3ENSG00000162711ENST00000391828p.W611*c.1832G>ASubstitution - Nonsense
MKI67ENSG00000148773ENST00000368654p.A1461Tc.4381G>ASubstitution - Missense
PPP2R2AENSG00000221914ENST00000380737p.R298*c.892C>TSubstitution - Nonsense
TTNENSG00000155657ENST00000360870p.S4496Lc.13487C>TSubstitution - Missense
ITPR1ENSG00000150995ENST00000456211p.E757Kc.2269G>ASubstitution - Missense
FREM1ENSG00000164946ENST00000422223p.A1006Ac.3018G>ASubstitution - coding silent
SPTBN4ENSG00000160460ENST00000344104p.R210Qc.629G>ASubstitution - Missense
DDAH2ENSG00000213722ENST00000375787p.L272Lc.816C>TSubstitution - coding silent
HLA-DMBENSG00000242574ENST00000418107p.L204Vc.610C>GSubstitution - Missense
NFAT5ENSG00000102908ENST00000432919p.S648Lc.1943C>TSubstitution - Missense
ENST00000316490_v65p.I3438Ic.10314C>TSubstitution - coding silent
NRXN1ENSG00000179915ENST00000404971p.R895Qc.2684G>ASubstitution - Missense
ZNF529ENSG00000186020ENST00000334116p.N47Dc.139A>GSubstitution - Missense
SYTL4ENSG00000102362ENST00000372989p.K103Nc.309G>TSubstitution - Missense
NM_139238.1p.L682Fc.2044C>TSubstitution - Missense
FBXO48ENSG00000204923ENST00000377957p.P129Sc.385C>TSubstitution - Missense
MBNL1ENSG00000152601ENST00000282486p.P340Sc.1018C>TSubstitution - Missense
CNTLNENSG00000044459ENST00000380647p.E1011*c.3031G>TSubstitution - Nonsense
C3orf67ENSG00000163689ENST00000482387p.E561Kc.1681G>ASubstitution - Missense
OGG1ENSG00000114026ENST00000302003p.M11fs*22c.29_30insCInsertion - Frameshift
SCARB1ENSG00000073060ENST00000415380p.H375Pc.1124A>CSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369351p.H445Yc.1333C>TSubstitution - Missense
ZNF572ENSG00000180938ENST00000319286p.R413Sc.1239A>CSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.E2697Kc.8089G>ASubstitution - Missense
DENND2AENSG00000146966ENST00000492720p.R425*c.1273C>TSubstitution - Nonsense
TENM3ENSG00000218336ENST00000511685p.G1625Rc.4873G>ASubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.S1777Fc.5330C>TSubstitution - Missense
MAGEC1ENSG00000155495ENST00000285879p.E1051Kc.3151G>ASubstitution - Missense
SPATA18ENSG00000163071ENST00000295213p.S85Sc.255C>GSubstitution - coding silent
SPATA31D1ENSG00000214929ENST00000344803p.R911Cc.2731C>TSubstitution - Missense
TDO2ENSG00000151790ENST00000536354p.K110*c.328A>TSubstitution - Nonsense
SRPX2ENSG00000102359ENST00000373004p.Q407Rc.1220A>GSubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.E3165Ec.9495G>ASubstitution - coding silent
DNERENSG00000187957ENST00000341772p.S147Sc.441C>TSubstitution - coding silent
TXLNBENSG00000164440ENST00000358430p.E572Kc.1714G>ASubstitution - Missense
ADAMTS12ENSG00000151388ENST00000504830p.P1413Lc.4238C>TSubstitution - Missense
UXS1ENSG00000115652ENST00000283148p.N51Nc.153T>CSubstitution - coding silent
HMOX1ENSG00000100292ENST00000216117p.V271Vc.813C>TSubstitution - coding silent
ENST00000356127p.A17678Ec.53033C>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.G20915Ec.62744G>ASubstitution - Missense
NM_003319p.G20723Ec.62168G>ASubstitution - Missense
OTOFENSG00000115155ENST00000402415p.P340Lc.1019C>TSubstitution - Missense
PIEZO1ENSG00000103335ENST00000301015p.L2043Lc.6129A>CSubstitution - coding silent
MCM3APENSG00000160294ENST00000397708p.P1055Pc.3165C>TSubstitution - coding silent
KRT32ENSG00000108759ENST00000225899p.S240Sc.720C>TSubstitution - coding silent
IFRD2ENSG00000214706ENST00000336089p.L101Lc.301C>TSubstitution - coding silent
ADAMTS3ENSG00000156140ENST00000286657p.?c.504+8T>CUnknown
ACEENSG00000159640ENST00000290866p.V428Vc.1284C>TSubstitution - coding silent
TLR8ENSG00000101916ENST00000218032p.T398Tc.1194T>CSubstitution - coding silent
ENST00000371233p.E133Kc.397G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.H1497Yc.4489C>TSubstitution - Missense
STAT1ENSG00000115415ENST00000361099p.?c.1347+3A>CUnknown
C14orf159ENSG00000133943ENST00000523816p.?c.1549+2T>CUnknown
NTNG1ENSG00000162631ENST00000370068p.S8Wc.23C>GSubstitution - Missense
WDR3ENSG00000065183ENST00000349139p.S437Fc.1310C>TSubstitution - Missense
WDR3ENSG00000065183ENST00000349139p.S437Sc.1311C>TSubstitution - coding silent
ZC2HC1CENSG00000119703ENST00000524913p.E169_P170delEPc.502_507delCCTGAGDeletion - In frame
ZC2HC1CENSG00000119703ENST00000524913p.E329fs*8c.985_986insGInsertion - Frameshift
BLMENSG00000197299ENST00000355112p.?c.98+6T>GUnknown
HTR7ENSG00000148680ENST00000371721p.R456Rc.1368G>ASubstitution - coding silent
SORBS1ENSG00000095637ENST00000371245p.P83Sc.247C>TSubstitution - Missense
ENAHENSG00000154380ENST00000366844p.?c.1539-9C>TUnknown
LRP2ENSG00000081479ENST00000263816p.H3730Yc.11188C>TSubstitution - Missense
OR2M7ENSG00000177186ENST00000317965p.I150Ic.450C>TSubstitution - coding silent
KLHDC8BENSG00000185909ENST00000332780p.S278Fc.833C>TSubstitution - Missense
AOC1ENSG00000002726ENST00000416793p.L505Lc.1513C>TSubstitution - coding silent
NAPRT1ENSG00000147813ENST00000276844p.P90Lc.269C>TSubstitution - Missense
TENM1ENSG00000009694ENST00000422452p.S284Fc.851C>TSubstitution - Missense
CLEC4MENSG00000104938ENST00000394122p.?c.107-10C>TUnknown
ENST00000373135_v70p.H502Pc.1505A>CSubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.E518Kc.1552G>ASubstitution - Missense
FMR1ENSG00000102081ENST00000334557p.?c.881-5C>TUnknown
ZNF185ENSG00000147394ENST00000535861p.G205Cc.613G>TSubstitution - Missense
SLC6A3ENSG00000142319ENST00000270349p.P194Sc.580C>TSubstitution - Missense
IMPG1ENSG00000112706ENST00000369950p.?c.563-9T>AUnknown
C19orf33ENSG00000167644ENST00000588605p.N49Nc.147C>TSubstitution - coding silent
HGDENSG00000113924ENST00000283871p.E195Kc.583G>ASubstitution - Missense
CPNE4ENSG00000196353ENST00000512055p.S434Lc.1301C>TSubstitution - Missense
CDH20ENSG00000101542ENST00000262717p.D194Nc.580G>ASubstitution - Missense
UMODL1ENSG00000177398ENST00000408989p.G1196Dc.3587G>ASubstitution - Missense
CXADRENSG00000154639ENST00000284878p.L302Lc.904C>TSubstitution - coding silent
CDH16ENSG00000166589ENST00000299752p.P669Sc.2005C>TSubstitution - Missense
ZNF518BENSG00000178163ENST00000326756p.S493Cc.1477A>TSubstitution - Missense
OGG1ENSG00000114026ENST00000302008p.M11fs*22c.29_30insCInsertion - Frameshift
OSBPL6ENSG00000079156ENST00000392505p.P832Sc.2494C>TSubstitution - Missense
RPGRIP1LENSG00000103494ENST00000379925p.N1276Tc.3827A>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.R4500Qc.13499G>ASubstitution - Missense
MAP3K6ENSG00000142733ENST00000493901p.S149Fc.446C>TSubstitution - Missense
UNC79ENSG00000133958ENST00000553484p.L1882Mc.5644C>ASubstitution - Missense
TUBA3CENSG00000198033ENST00000400113p.R215Cc.643C>TSubstitution - Missense
SCARB1ENSG00000073060ENST00000261693p.H375Pc.1124A>CSubstitution - Missense
UBCENSG00000150991ENST00000339647p.F308Fc.924C>TSubstitution - coding silent
CCDC67ENSG00000165325ENST00000298050p.P133Sc.397C>TSubstitution - Missense
ENST00000434489p.S249Cc.746C>GSubstitution - Missense
ENST00000426033p.Q924Hc.2772G>CSubstitution - Missense
SPAG17ENSG00000155761ENST00000336338p.R437Qc.1310G>ASubstitution - Missense
ENO4ENSG00000188316ENST00000341276p.D216Dc.648T>CSubstitution - coding silent
ENST00000268134p.G1468Rc.4402G>ASubstitution - Missense
OR10G9ENSG00000236981ENST00000375024p.P16Pc.48C>TSubstitution - coding silent
ENST00000279593p.E1205Kc.3613G>ASubstitution - Missense
SLC25A30ENSG00000174032ENST00000519676p.G51Ec.152G>ASubstitution - Missense
PDE6CENSG00000095464ENST00000371447p.?c.1413+2T>GUnknown
CLDN12ENSG00000157224ENST00000394605p.R4Qc.11G>ASubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.T4541Tc.13623G>ASubstitution - coding silent
PMLENSG00000140464ENST00000395132p.P67Pc.201G>ASubstitution - coding silent
ADAM23ENSG00000114948ENST00000374415p.F761Fc.2283C>TSubstitution - coding silent
OR14A2ENSG00000241128ENST00000366485p.F59Sc.176T>CSubstitution - Missense
SNX18ENSG00000178996ENST00000326277p.F327Lc.981C>GSubstitution - Missense
TIGD6ENSG00000164296ENST00000296736p.L14Lc.42G>ASubstitution - coding silent
TRIOBPENSG00000100106ENST00000406386p.S343Sc.1029C>TSubstitution - coding silent
DPPA5ENSG00000203909ENST00000370370p.P45Sc.133C>TSubstitution - Missense
ENST00000425539p.D584fs*11c.1746_1747insGInsertion - Frameshift
NM_001371.1p.E3644Kc.10930G>ASubstitution - Missense
SRCAPENSG00000080603ENST00000262518p.P1166Lc.3497C>TSubstitution - Missense
DAAM2ENSG00000146122ENST00000538976p.P23Sc.67C>TSubstitution - Missense
UNC5DENSG00000156687ENST00000287272p.?c.1070-4T>CUnknown
MID1IP1ENSG00000165175ENST00000457894p.L94Lc.282C>GSubstitution - coding silent
TMEM237ENSG00000155755ENST00000409883p.T267Tc.801C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.A11308Ec.33923C>ASubstitution - Missense
DSG1ENSG00000134760ENST00000257192p.G879Ec.2636G>ASubstitution - Missense
LGALS9ENSG00000168961ENST00000395473p.T195fs*21c.580_583delCAGADeletion - Frameshift
MAST1ENSG00000105613ENST00000251472p.I281Ic.843C>TSubstitution - coding silent
ZBTB4ENSG00000174282ENST00000380599p.S228Sc.684C>TSubstitution - coding silent
TTNENSG00000155657ENST00000360870p.E3925Kc.11773G>ASubstitution - Missense
ENST00000356127p.S7076Fc.21227C>TSubstitution - Missense
CPA6ENSG00000165078ENST00000297770p.T419Sc.1255A>TSubstitution - Missense
SPNS2ENSG00000183018ENST00000329078p.T329Tc.987G>ASubstitution - coding silent
OR7E24ENSG00000237521ENST00000456448p.G34Ec.101G>ASubstitution - Missense
VPS53ENSG00000141252ENST00000291074p.?c.1618-9T>CUnknown
HIF1AENSG00000100644ENST00000337138p.P236Sc.706C>TSubstitution - Missense
TNRENSG00000116147ENST00000367674p.A563Vc.1688C>TSubstitution - Missense
HTR3BENSG00000149305ENST00000260191p.?c.369-7C>TUnknown
ATMENSG00000149311ENST00000278616p.A1670Vc.5009C>TSubstitution - Missense
DSCAML1ENSG00000177103ENST00000321322p.T1134Tc.3402G>TSubstitution - coding silent
N4BP2L1ENSG00000139597ENST00000380130p.D75Nc.223G>ASubstitution - Missense
ENST00000265870p.L90Fc.268C>TSubstitution - Missense
KRT82ENSG00000161850ENST00000257974p.S21Lc.62C>TSubstitution - Missense
OR10D3ENSG00000197309ENST00000318666p.S193Fc.578C>TSubstitution - Missense
OR10G9ENSG00000236981ENST00000375024p.P16Lc.47C>TSubstitution - Missense
KIF5AENSG00000155980ENST00000455537p.P935Lc.2804C>TSubstitution - Missense
ATXN2ENSG00000204842ENST00000377617p.S828Lc.2483C>TSubstitution - Missense
CAB39LENSG00000102547ENST00000355854p.P337Lc.1010C>TSubstitution - Missense
DCTENSG00000080166ENST00000377028p.G165Gc.495C>TSubstitution - coding silent
TMEM67ENSG00000164953ENST00000453321p.R764*c.2290C>TSubstitution - Nonsense
SLCO1B3ENSG00000111700ENST00000381545p.P94Pc.282G>ASubstitution - coding silent
SLC35F4ENSG00000151812ENST00000339762p.P109Pc.327T>ASubstitution - coding silent
CD163ENSG00000177575ENST00000359156p.E792Kc.2374G>ASubstitution - Missense
PUS1ENSG00000177192ENST00000376649p.P416Lc.1247C>TSubstitution - Missense
OR2L3ENSG00000198128ENST00000359959p.S216Sc.648C>TSubstitution - coding silent
ACSM5ENSG00000183549ENST00000331849p.?c.1656+9C>TUnknown
NTNG1ENSG00000162631ENST00000370074p.S8Wc.23C>GSubstitution - Missense
C1RLENSG00000139178ENST00000266542p.L253Lc.757C>TSubstitution - coding silent
ANK3ENSG00000151150ENST00000280772p.P898Pc.2694T>GSubstitution - coding silent
MADDENSG00000110514ENST00000311027p.P441Lc.1322C>TSubstitution - Missense
LRIG3ENSG00000139263ENST00000320743p.I663Ic.1989C>TSubstitution - coding silent
PIGRENSG00000162896ENST00000356495p.E71Kc.211G>ASubstitution - Missense
DDR1ENSG00000204580ENST00000418800p.F241Lc.721T>CSubstitution - Missense
C12orf49ENSG00000111412ENST00000536380p.V78Vc.234C>TSubstitution - coding silent
NNTENSG00000112992ENST00000264663p.T930Ac.2788A>GSubstitution - Missense
NOTCH4ENSG00000204301ENST00000375023p.S676Lc.2027C>TSubstitution - Missense
GIMAP8ENSG00000171115ENST00000307271p.G524Gc.1572G>ASubstitution - coding silent
ZNF260ENSG00000254004ENST00000523638p.E221Ac.662A>CSubstitution - Missense
NRXN1ENSG00000179915ENST00000406316p.R855Qc.2564G>ASubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.R911Cc.2731C>TSubstitution - Missense
EIF3LENSG00000100129ENST00000412331p.D541fs*11c.1621_1622insGInsertion - Frameshift
CSMD3ENSG00000164796ENST00000297405p.D158Nc.472G>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.D118Nc.352G>ASubstitution - Missense
WDR41ENSG00000164253ENST00000296679p.E435Kc.1303G>ASubstitution - Missense
ENST00000217537p.G605Rc.1813G>ASubstitution - Missense
MOSPD3ENSG00000106330ENST00000393950p.P157Lc.470C>TSubstitution - Missense
SP140ENSG00000079263ENST00000392045p.G599Ec.1796G>ASubstitution - Missense
SLC9B2ENSG00000164038ENST00000362026p.D278Gc.833A>GSubstitution - Missense
RPL17-C18orf32ENSG00000215472ENST00000577910p.N64Sc.191A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.G27220Ec.81659G>ASubstitution - Missense
DGKIENSG00000157680ENST00000288490p.V327Vc.981G>ASubstitution - coding silent
CACNA2D2ENSG00000007402ENST00000424201p.D586Nc.1756G>ASubstitution - Missense
PLXDC1ENSG00000161381ENST00000315392p.?c.712-4G>AUnknown
DOPEY2ENSG00000142197ENST00000399151p.T1654Tc.4962G>ASubstitution - coding silent
ASXL3ENSG00000141431ENST00000269197p.G601Ec.1802G>ASubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.?c.10536-6C>TUnknown
C3orf67ENSG00000163689ENST00000295966p.D131Dc.393T>CSubstitution - coding silent
FRMPD1ENSG00000070601ENST00000377765p.R261Rc.783G>ASubstitution - coding silent
UTP14AENSG00000156697ENST00000394422p.I580Lc.1738A>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.M10524Ic.31572G>TSubstitution - Missense
ENST00000375815p.P953Sc.2857C>TSubstitution - Missense
ENST00000339762_v65p.P109Pc.327T>ASubstitution - coding silent
NR5A2ENSG00000116833ENST00000367362p.L454Lc.1360T>CSubstitution - coding silent
CASZ1ENSG00000130940ENST00000377022p.A154Tc.460G>ASubstitution - Missense
SIDT2ENSG00000149577ENST00000324225p.?c.869-8C>TUnknown
CEP350ENSG00000135837ENST00000367607p.S2066Pc.6196T>CSubstitution - Missense
ANK3ENSG00000151150ENST00000355288p.P32Pc.96T>GSubstitution - coding silent
NLRP3ENSG00000162711ENST00000391828p.E539Kc.1615G>ASubstitution - Missense
OR5B21ENSG00000198283ENST00000360374p.S115Fc.344C>TSubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.S1550Sc.4650C>TSubstitution - coding silent
OR6N1ENSG00000197403ENST00000335094p.P229Sc.685C>TSubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.D1734Nc.5200G>ASubstitution - Missense
UBE2NLENSG00000102069ENST00000370494p.F72Fc.216C>TSubstitution - coding silent
KCNT1ENSG00000107147ENST00000263604p.L283Lc.847C>TSubstitution - coding silent
P2RX6ENSG00000099957ENST00000336296p.G242Ec.725G>ASubstitution - Missense
RHOT2ENSG00000140983ENST00000315082p.V312Ac.935T>CSubstitution - Missense
TENM2ENSG00000145934ENST00000519204p.R158Rc.474G>ASubstitution - coding silent
PRUNE2ENSG00000106772ENST00000376718p.P2024Sc.6070C>TSubstitution - Missense
TCERG1ENSG00000113649ENST00000296702p.T680Tc.2040G>ASubstitution - coding silent
VPS53ENSG00000141252ENST00000291074p.P387Qc.1160C>ASubstitution - Missense
CCDC43ENSG00000180329ENST00000315286p.?c.487+5C>TUnknown
FOXO3ENSG00000118689ENST00000343882p.N655Nc.1965C>TSubstitution - coding silent
CASRENSG00000036828ENST00000296154p.L861Fc.2581C>TSubstitution - Missense
BCL11AENSG00000119866ENST00000335712p.F346Lc.1038C>GSubstitution - Missense
RHBDD1ENSG00000144468ENST00000392062p.C158Cc.474C>TSubstitution - coding silent
DGKIENSG00000157680ENST00000424189p.W887*c.2660G>ASubstitution - Nonsense
SLC25A27ENSG00000153291ENST00000411689p.P67Pc.201C>TSubstitution - coding silent
MUC12ENSG00000205277ENST00000379442p.S583Fc.1748C>TSubstitution - Missense
TMEM67ENSG00000164953ENST00000409623p.R683*c.2047C>TSubstitution - Nonsense
USP6ENSG00000129204ENST00000304328p.?c.1878-3C>TUnknown
SELLENSG00000188404ENST00000236147p.W111*c.332G>ASubstitution - Nonsense
ENSG00000150076ENST00000375025p.L249Lc.745C>TSubstitution - coding silent
SIDT2ENSG00000149577ENST00000278951p.?c.869-8C>TUnknown
DPM2ENSG00000136908ENST00000314392p.?c.197-5C>TUnknown
POU5F1BENSG00000212993ENST00000465342p.G59Gc.177G>TSubstitution - coding silent
ABCC10ENSG00000124574ENST00000244533p.F220Fc.660C>TSubstitution - coding silent
VPS52ENSG00000223501ENST00000445902p.I483Mc.1449C>GSubstitution - Missense
SPTBN4ENSG00000160460ENST00000352632p.R210Qc.629G>ASubstitution - Missense
WFS1ENSG00000109501ENST00000226760p.T799Tc.2397C>GSubstitution - coding silent
PKD1L1ENSG00000158683ENST00000289672p.G1917Rc.5749G>ASubstitution - Missense
OTOL1ENSG00000182447ENST00000327928p.G182Ec.545G>ASubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.R747Rc.2241G>ASubstitution - coding silent
SPOCK1ENSG00000152377ENST00000394945p.P266Lc.797C>TSubstitution - Missense
CACNA1BENSG00000148408ENST00000371372p.V1402Ic.4204G>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000359357p.E3644Kc.10930G>ASubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.S3909Fc.11726C>TSubstitution - Missense
ENSG00000163075ENST00000295220p.N262fs*6c.783_784insCInsertion - Frameshift
ACSL3ENSG00000123983ENST00000357430p.K596Ic.1787A>TSubstitution - Missense
MYH8ENSG00000133020ENST00000403437p.H100Hc.300C>TSubstitution - coding silent
BRI3ENSG00000164713ENST00000297290p.?c.246-3C>AUnknown
MGAMENSG00000257335ENST00000475668p.G1152Gc.3456G>CSubstitution - coding silent
ZZEF1ENSG00000074755ENST00000381638p.?c.6166+1G>TUnknown
ZNF442ENSG00000198342ENST00000242804p.C521Yc.1562G>ASubstitution - Missense
POLR2AENSG00000181222ENST00000322644p.P396Pc.1188C>TSubstitution - coding silent
ZDBF2ENSG00000204186ENST00000374423p.D1070Nc.3208G>ASubstitution - Missense
PLS3ENSG00000102024ENST00000355899p.V227Vc.681T>ASubstitution - coding silent
COL4A1ENSG00000187498ENST00000375820p.P1310Sc.3928C>TSubstitution - Missense
ST6GALNAC5ENSG00000117069ENST00000477717p.S112Fc.335C>TSubstitution - Missense
ZNF609ENSG00000180357ENST00000326648p.Q1092Qc.3276G>ASubstitution - coding silent
PRPF38BENSG00000134186ENST00000370025p.H425Yc.1273C>TSubstitution - Missense
NM_000655.2p.W98*c.293G>ASubstitution - Nonsense
CCDC169ENSG00000242715ENST00000239859p.E63Kc.187G>ASubstitution - Missense
OR56A1ENSG00000180934ENST00000316650p.F199Fc.597C>TSubstitution - coding silent
LIN7AENSG00000111052ENST00000552864p.Q40Qc.120G>ASubstitution - coding silent
MNDAENSG00000163563ENST00000368141p.E258Kc.772G>ASubstitution - Missense
PCLOENSG00000186472ENST00000423517p.A2863Ac.8589A>GSubstitution - coding silent
TENM2ENSG00000145934ENST00000545108p.R279Rc.837G>ASubstitution - coding silent
SUGP2ENSG00000064607ENST00000456085p.L123Lc.369C>TSubstitution - coding silent
IQCHENSG00000103599ENST00000360277p.L167Lc.499C>TSubstitution - coding silent
ATP13A3ENSG00000133657ENST00000256031p.?c.1828-9C>TUnknown
POU5F1BENSG00000212993ENST00000465342p.G59Gc.177G>TSubstitution - coding silent
PXDNENSG00000130508ENST00000252804p.Q145Qc.435G>ASubstitution - coding silent
SLC26A4ENSG00000091137ENST00000265715p.?c.1150-1G>TUnknown
MAGEC1ENSG00000155495ENST00000285879p.R1066Hc.3197G>ASubstitution - Missense
CABIN1ENSG00000099991ENST00000398319p.Q440*c.1318C>TSubstitution - Nonsense
TBX18ENSG00000112837ENST00000369663p.L126Lc.376C>TSubstitution - coding silent
SHC3ENSG00000148082ENST00000375835p.G411Ec.1232G>ASubstitution - Missense
ENST00000315286_v68p.?c.487+5C>TUnknown
WBSCR17ENSG00000185274ENST00000333538p.L583Pc.1748T>CSubstitution - Missense
POTEIENSG00000196834ENST00000451531p.G121Ec.362G>ASubstitution - Missense
EPB41L5ENSG00000115109ENST00000263713p.R335Qc.1004G>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.A2863Ac.8589A>GSubstitution - coding silent
DLEC1ENSG00000008226ENST00000346219p.M1606Tc.4817T>CSubstitution - Missense
ZNF845ENSG00000213799ENST00000458035p.H709Hc.2127C>TSubstitution - coding silent
ZNF845ENSG00000213799ENST00000458035p.T714Sc.2141C>GSubstitution - Missense
SCINENSG00000006747ENST00000297029p.E173Kc.517G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.R3494Qc.10481G>ASubstitution - Missense
ENST00000356127p.F6577Fc.19731C>TSubstitution - coding silent
C1orf43ENSG00000143612ENST00000350592p.?c.185-9C>TUnknown


COSMIC

1 mutations reported
0 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense12068308