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OMC-1 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1313 mutations reported
461 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
ENST00000253720p.T383Tc.1149C>TSubstitution - coding silent
PRICKLE2ENSG00000163637ENST00000295902p.Q21*c.61C>TSubstitution - Nonsense
POLR1EENSG00000137054ENST00000377792p.P47Pc.141G>CSubstitution - coding silent
CD274ENSG00000120217ENST00000381577p.E289Kc.865G>ASubstitution - Missense
KANK1ENSG00000107104ENST00000382293p.S134Yc.401C>ASubstitution - Missense
RPTORENSG00000141564ENST00000306801p.E1132Kc.3394G>ASubstitution - Missense
SGSM2ENSG00000141258ENST00000268989p.L497Lc.1491G>TSubstitution - coding silent
ABCG1ENSG00000160179ENST00000398437p.?c.1296+9G>AUnknown
ZNF750ENSG00000141579ENST00000269394p.E177fs*42c.529_536delGAGGCGCCDeletion - Frameshift
TLR10ENSG00000174123ENST00000361424p.D566Dc.1698C>TSubstitution - coding silent
CNOT4ENSG00000080802ENST00000414802p.Q242*c.724C>TSubstitution - Nonsense
OSTCENSG00000198856ENST00000361564p.R117fs*19c.349_350delAGDeletion - Frameshift
ZNF142ENSG00000115568ENST00000411696p.Q860Pc.2579A>CSubstitution - Missense
AMOTL2ENSG00000114019ENST00000249883p.D595Hc.1783G>CSubstitution - Missense
CCNT2ENSG00000082258ENST00000264157p.S583Sc.1749C>TSubstitution - coding silent
ENST00000396750_v65p.A67Vc.200C>TSubstitution - Missense
XRCC6ENSG00000196419ENST00000360079p.P402Pc.1206C>TSubstitution - coding silent
TIMM21ENSG00000075336ENST00000169551p.L35Lc.105G>ASubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.P1223Pc.3669C>TSubstitution - coding silent
ZBBXENSG00000169064ENST00000455345p.S619Tc.1855T>ASubstitution - Missense
ZNF232ENSG00000167840ENST00000416429p.R151Tc.452G>CSubstitution - Missense
PAPOLBENSG00000218823ENST00000404991p.P418Pc.1254A>GSubstitution - coding silent
BBS9ENSG00000122507ENST00000242067p.R656Wc.1966C>TSubstitution - Missense
SLITRK2ENSG00000185985ENST00000447897p.K30Nc.90G>TSubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
ZNF112ENSG00000062370ENST00000337401p.G615Gc.1845G>ASubstitution - coding silent
DCAF15ENSG00000132017ENST00000254337p.A590Ac.1770G>ASubstitution - coding silent
CNFNENSG00000105427ENST00000222032p.D89Nc.265G>ASubstitution - Missense
RABEPKENSG00000136933ENST00000373538p.T306Mc.917C>TSubstitution - Missense
OR5D14ENSG00000186113ENST00000335605p.P28Sc.82C>TSubstitution - Missense
PRRT2ENSG00000167371ENST00000567659p.D191Yc.571G>TSubstitution - Missense
C19orf55ENSG00000167595ENST00000537459p.?c.440-3C>TUnknown
LIMK1ENSG00000106683ENST00000538333p.F300Fc.900C>TSubstitution - coding silent
EGFRENSG00000146648ENST00000275493p.V819Vc.2457G>ASubstitution - coding silent
OR6C3ENSG00000205329ENST00000379667p.N169Dc.505A>GSubstitution - Missense
ENST00000298047_v61p.T2037Mc.6110C>TSubstitution - Missense
NAA16ENSG00000172766ENST00000379367p.E525Qc.1573G>CSubstitution - Missense
KINENSG00000151657ENST00000379562p.C128Wc.384C>GSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.G1642Gc.4926G>TSubstitution - coding silent
LRRK2ENSG00000188906ENST00000298910p.N284Dc.850A>GSubstitution - Missense
SU_LRRK2p.N284Dc.850A>GSubstitution - Missense
SIKE1ENSG00000052723ENST00000060969p.?c.159+1_160-1del233Unknown
CIITAENSG00000179583ENST00000324288p.Q909*c.2725C>TSubstitution - Nonsense
GJA8ENSG00000121634ENST00000369235p.N63Nc.189C>TSubstitution - coding silent
PM20D1ENSG00000162877ENST00000367136p.L391Fc.1173G>CSubstitution - Missense
DEFA6ENSG00000164822ENST00000297436p.D46Nc.136G>ASubstitution - Missense
AMOTENSG00000126016ENST00000371959p.G10Vc.29G>TSubstitution - Missense
PNKPENSG00000039650ENST00000322344p.M479Lc.1435A>CSubstitution - Missense
ASNA1ENSG00000198356ENST00000357332p.K267Kc.801G>ASubstitution - coding silent
C17orf100ENSG00000212734ENST00000391428p.K124Kc.372A>GSubstitution - coding silent
ITGB2ENSG00000160255ENST00000397852p.I727Tc.2180T>CSubstitution - Missense
ZNF251ENSG00000198169ENST00000292562p.L112Lc.336G>ASubstitution - coding silent
CEP192ENSG00000101639ENST00000325971p.H1663Dc.4987C>GSubstitution - Missense
PLA2G3ENSG00000100078ENST00000215885p.S30Yc.89C>ASubstitution - Missense
KCTD2ENSG00000180901ENST00000322444p.L98Fc.292C>TSubstitution - Missense
ZSCAN18ENSG00000121413ENST00000433686p.A364Ac.1092G>ASubstitution - coding silent
ACOX3ENSG00000087008ENST00000356406p.S386Sc.1158G>ASubstitution - coding silent
SLC12A7ENSG00000113504ENST00000264930p.R771Wc.2311C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.M6920Ic.20760G>CSubstitution - Missense
LARP1BENSG00000138709ENST00000326639p.E410Qc.1228G>CSubstitution - Missense
WDR33ENSG00000136709ENST00000322313p.P969Lc.2906C>TSubstitution - Missense
UGT1A9ENSG00000241119ENST00000354728p.D256Nc.766G>ASubstitution - Missense
TAF1ENSG00000147133ENST00000276072p.E1572Ec.4716G>ASubstitution - coding silent
CYLC1ENSG00000183035ENST00000329312p.G598Sc.1792G>ASubstitution - Missense
ABCA1ENSG00000165029ENST00000374736p.D1289Nc.3865G>ASubstitution - Missense
TCERG1ENSG00000113649ENST00000296702p.K782Kc.2346G>ASubstitution - coding silent
MAGENSG00000105695ENST00000361922p.V302Dc.905T>ASubstitution - Missense
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
ZNF112ENSG00000062370ENST00000337401p.G615Gc.1845G>ASubstitution - coding silent
INTS1ENSG00000164880ENST00000389470p.?c.4547-8C>GUnknown
ZNF230ENSG00000159882ENST00000429154p.D473Nc.1417G>ASubstitution - Missense
LRRC1ENSG00000137269ENST00000370888p.?c.1106+10T>CUnknown
EPS15ENSG00000085832ENST00000396122p.?c.1390+7G>CUnknown
ZNF687ENSG00000143373ENST00000368879p.R534Hc.1601G>ASubstitution - Missense
RGL3ENSG00000205517ENST00000393423p.S247Gc.739A>GSubstitution - Missense
TTYH1ENSG00000167614ENST00000391739p.I293Mc.879C>GSubstitution - Missense
ENST00000256343_v70p.S642*c.1925C>ASubstitution - Nonsense
C2orf16ENSG00000221843ENST00000408964p.S1765Rc.5295C>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.P8378Pc.25134A>GSubstitution - coding silent
TGIF2ENSG00000118707ENST00000373872p.F195Fc.585C>TSubstitution - coding silent
HADHENSG00000138796ENST00000309522p.S19Lc.56C>TSubstitution - Missense
ALDH18A1ENSG00000059573ENST00000371224p.S560Fc.1679C>TSubstitution - Missense
SEMA4GENSG00000095539ENST00000210633p.L461Lc.1383G>CSubstitution - coding silent
DNHD1ENSG00000179532ENST00000254579p.D2272Nc.6814G>ASubstitution - Missense
DNHD1ENSG00000179532ENST00000254579p.D930Nc.2788G>ASubstitution - Missense
RIC8AENSG00000177963ENST00000325207p.R249fs*87c.743_756del14Deletion - Frameshift
PAPPA2ENSG00000116183ENST00000367662p.E839Kc.2515G>ASubstitution - Missense
MIPOL1ENSG00000151338ENST00000327441p.S37fs*9c.106delADeletion - Frameshift
ING1ENSG00000153487ENST00000375774p.D229Dc.687C>TSubstitution - coding silent
ABHD13ENSG00000139826ENST00000375898p.G158Ec.473G>ASubstitution - Missense
KIAA0586ENSG00000100578ENST00000354386p.?c.1289-1G>AUnknown
GPATCH3ENSG00000198746ENST00000361720p.E277Kc.829G>ASubstitution - Missense
CUL4BENSG00000158290ENST00000371322p.?c.1938+7G>AUnknown
HNRNPMENSG00000099783ENST00000325495p.L103Lc.309C>GSubstitution - coding silent
CPS1ENSG00000021826ENST00000430249p.S71Sc.213C>TSubstitution - coding silent
WDR81ENSG00000167716ENST00000437219p.L581Lc.1743G>ASubstitution - coding silent
TMSB15AENSG00000158164ENST00000289373p.S31Lc.92C>TSubstitution - Missense
POLA1ENSG00000101868ENST00000379059p.V1295Ic.3883G>ASubstitution - Missense
KCTD5ENSG00000167977ENST00000301738p.E229Qc.685G>CSubstitution - Missense
CCNT2ENSG00000082258ENST00000264157p.Q432Pc.1295A>CSubstitution - Missense
ENST00000396750p.A67Vc.200C>TSubstitution - Missense
P2RY10ENSG00000078589ENST00000544091p.F11Yc.32T>ASubstitution - Missense
TWSG1ENSG00000128791ENST00000262120p.L24Lc.72G>ASubstitution - coding silent
ZNF462ENSG00000148143ENST00000277225p.S960Lc.2879C>TSubstitution - Missense
PCSK5ENSG00000099139ENST00000545128p.V1223Ic.3667G>ASubstitution - Missense
G6PCENSG00000131482ENST00000253801p.I171Ic.513C>TSubstitution - coding silent
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
WDR17ENSG00000150627ENST00000280190p.T553Ac.1657A>GSubstitution - Missense
GCM1ENSG00000137270ENST00000259803p.*437*c.1310G>ASubstitution - coding silent
ENST00000379172p.F131Fc.393C>TSubstitution - coding silent
LRRC6ENSG00000129295ENST00000250173p.?c.975-1G>AUnknown
TGENSG00000042832ENST00000220616p.N2616Ic.7847A>TSubstitution - Missense
SSRP1ENSG00000149136ENST00000278412p.S474*c.1421C>GSubstitution - Nonsense
ATXN2LENSG00000168488ENST00000325215p.Q793Ec.2377C>GSubstitution - Missense
KIAA0100ENSG00000007202ENST00000528896p.V991Ic.2971G>ASubstitution - Missense
TIAM2ENSG00000146426ENST00000456144p.T969Tc.2907T>CSubstitution - coding silent
RAI14ENSG00000039560ENST00000397449p.Y118Hc.352T>CSubstitution - Missense
ZNF81ENSG00000197779ENST00000376950p.S59Lc.176C>TSubstitution - Missense
SCELENSG00000136155ENST00000349847p.Q523Ec.1567C>GSubstitution - Missense
DUSP13ENSG00000079393ENST00000308475p.T195Mc.584C>TSubstitution - Missense
ZCCHC24ENSG00000165424ENST00000372336p.T109Tc.327C>TSubstitution - coding silent
METTL25ENSG00000127720ENST00000248306p.M153Ic.459G>ASubstitution - Missense
CRTAC1ENSG00000095713ENST00000370597p.S254Lc.761C>TSubstitution - Missense
HNRNPUL2ENSG00000214753ENST00000301785p.E115Kc.343G>ASubstitution - Missense
CD5ENSG00000110448ENST00000347785p.G183Vc.548G>TSubstitution - Missense
MTA1ENSG00000182979ENST00000331320p.R26Kc.77G>ASubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.K587Nc.1761G>CSubstitution - Missense
SLC22A11ENSG00000168065ENST00000301891p.L520Lc.1560C>TSubstitution - coding silent
FCGR2AENSG00000143226ENST00000367972p.T250Tc.750T>GSubstitution - coding silent
SIKE1ENSG00000052723ENST00000060969p.?c.265+1_266-1del825Unknown
NM_002837.2p.T605Tc.1815C>TSubstitution - coding silent
NID2ENSG00000087303ENST00000216286p.A731Vc.2192C>TSubstitution - Missense
ITFG2ENSG00000111203ENST00000228799p.P117Ac.349C>GSubstitution - Missense
FLG2ENSG00000143520ENST00000388718p.G1933Dc.5798G>ASubstitution - Missense
SGPP1ENSG00000126821ENST00000247225p.R182Hc.545G>ASubstitution - Missense
CATSPERBENSG00000133962ENST00000256343p.S642*c.1925C>ASubstitution - Nonsense
MYCBPAPENSG00000136449ENST00000323776p.L891Lc.2673C>TSubstitution - coding silent
UACAENSG00000137831ENST00000322954p.T1080Tc.3240G>CSubstitution - coding silent
OSGEPL1ENSG00000128694ENST00000264151p.L337Lc.1009C>TSubstitution - coding silent
SLC1A1ENSG00000106688ENST00000262352p.Q122Qc.366G>ASubstitution - coding silent
TBCDENSG00000141556ENST00000355528p.?c.1318+3G>AUnknown
MYO18AENSG00000196535ENST00000527372p.A647Vc.1940C>TSubstitution - Missense
KIF13AENSG00000137177ENST00000378814p.?c.146+2T>GUnknown
ETV1ENSG00000006468ENST00000403527p.E404Kc.1210G>ASubstitution - Missense
KIR2DL4ENSG00000189013ENST00000359085p.R96Kc.287G>ASubstitution - Missense
PLA2G3ENSG00000100078ENST00000215885p.S30Yc.89C>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.P8766Pc.26298A>GSubstitution - coding silent
C5AR1ENSG00000197405ENST00000355085p.F275Lc.825C>ASubstitution - Missense
ARRDC2ENSG00000105643ENST00000379656p.*403*c.1208G>ASubstitution - coding silent
RFESDENSG00000175449ENST00000311364p.R39Tc.116G>CSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.L2449Vc.7345C>GSubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.Y217Hc.649T>CSubstitution - Missense
GIPC3ENSG00000179855ENST00000322315p.G227Wc.679G>TSubstitution - Missense
RESTENSG00000084093ENST00000309042p.Q953Ec.2857C>GSubstitution - Missense
LRSAM1ENSG00000148356ENST00000373322p.G644Cc.1930G>TSubstitution - Missense
PROP1ENSG00000175325ENST00000308304p.P163_V164insPc.489_490insCCAInsertion - In frame
IQCDENSG00000166578ENST00000416617p.K231Ec.691A>GSubstitution - Missense
C11orf63ENSG00000109944ENST00000307257p.Q13*c.37C>TSubstitution - Nonsense
GRAMD1CENSG00000178075ENST00000452134p.S173Lc.518C>TSubstitution - Missense
TIAM2ENSG00000146426ENST00000318981p.G348Rc.1042G>ASubstitution - Missense
APBB1ENSG00000166313ENST00000389906p.T338Tc.1014G>ASubstitution - coding silent
ALKBH8ENSG00000137760ENST00000260318p.R95Tc.284G>CSubstitution - Missense
GRIP1ENSG00000155974ENST00000398016p.R178Hc.533G>ASubstitution - Missense
RNF2ENSG00000121481ENST00000367510p.?c.909+3G>CUnknown
EPS15ENSG00000085832ENST00000371733p.?c.2359+7G>CUnknown
KIAA0586ENSG00000100578ENST00000261244p.?c.1130-1G>AUnknown
MPHOSPH8ENSG00000196199ENST00000361479p.V857Ac.2570T>CSubstitution - Missense
ZNF726ENSG00000213967ENST00000322487p.K152Ec.454A>GSubstitution - Missense
TEX13AENSG00000133149ENST00000413579p.F20Fc.60C>TSubstitution - coding silent
CNBD1ENSG00000176571ENST00000518476p.E240Kc.718G>ASubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.D3125Yc.9373G>TSubstitution - Missense
LINGO2ENSG00000174482ENST00000379992p.R310Hc.929G>ASubstitution - Missense
C17orf70ENSG00000185504ENST00000327787p.L643Lc.1927C>TSubstitution - coding silent
CNOT4ENSG00000080802ENST00000361528p.Q242*c.724C>TSubstitution - Nonsense
TTNENSG00000155657ENST00000359218p.S21373*c.64118C>GSubstitution - Nonsense
PATZ1ENSG00000100105ENST00000266269p.K141Rc.422A>GSubstitution - Missense
ENST00000332498p.L95Fc.285G>CSubstitution - Missense
BSGENSG00000172270ENST00000333511p.N64Hc.190A>CSubstitution - Missense
NHSL1ENSG00000135540ENST00000343505p.S409Cc.1226C>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.P8718Pc.26154A>GSubstitution - coding silent
PARK2ENSG00000185345ENST00000366892p.T175fs*2c.523delADeletion - Frameshift
HEG1ENSG00000173706ENST00000311127p.S732Fc.2195C>TSubstitution - Missense
FAM155BENSG00000130054ENST00000252338p.R353Hc.1058G>ASubstitution - Missense
MKL1ENSG00000196588ENST00000355630p.P804Ac.2410C>GSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.S1779*c.5336C>ASubstitution - Nonsense
FBXW7ENSG00000109670ENST00000281708p.R479Gc.1435C>GSubstitution - Missense
ENST00000534231p.R240Gc.718C>GSubstitution - Missense
MB21D1ENSG00000164430ENST00000370315p.E259Qc.775G>CSubstitution - Missense
BRD3ENSG00000169925ENST00000303407p.S27Cc.80C>GSubstitution - Missense
KCNH2ENSG00000055118ENST00000430723p.F424Fc.1272C>TSubstitution - coding silent
AEBP1ENSG00000106624ENST00000223357p.S43*c.128C>GSubstitution - Nonsense
CNTD2ENSG00000105219ENST00000221818p.H104Yc.310C>TSubstitution - Missense
PLEKHG3ENSG00000126822ENST00000247226p.Q608*c.1822C>TSubstitution - Nonsense
KCNK1ENSG00000135750ENST00000366620p.L107Lc.321G>ASubstitution - coding silent
GGT6ENSG00000167741ENST00000574154p.E455Kc.1363G>ASubstitution - Missense
ICAM4ENSG00000105371ENST00000380770p.D217Nc.649G>ASubstitution - Missense
TIAM2ENSG00000146426ENST00000456144p.G348Rc.1042G>ASubstitution - Missense
BRD3ENSG00000169925ENST00000371834p.S27Cc.80C>GSubstitution - Missense
GGTLC1ENSG00000149435ENST00000335694p.T112Tc.336G>ASubstitution - coding silent
TAS2R8ENSG00000121314ENST00000240615p.P225Sc.673C>TSubstitution - Missense
HOXC4ENSG00000198353ENST00000303406p.E155Kc.463G>ASubstitution - Missense
SUSD4ENSG00000143502ENST00000343846p.S79Fc.236C>TSubstitution - Missense
PEAR1ENSG00000187800ENST00000338302p.R871Cc.2611C>TSubstitution - Missense
UTP20ENSG00000120800ENST00000261637p.I389Mc.1167A>GSubstitution - Missense
APBB1ENSG00000166313ENST00000299402p.T338Tc.1014G>ASubstitution - coding silent
MPZL3ENSG00000160588ENST00000278949p.M155Lc.463A>CSubstitution - Missense
RBP3ENSG00000107618ENST00000224600p.G603Sc.1807G>ASubstitution - Missense
MAPK8ENSG00000107643ENST00000374176p.F225Fc.675C>TSubstitution - coding silent
ARMC4ENSG00000169126ENST00000305242p.L31Sc.92T>CSubstitution - Missense
GSE1ENSG00000131149ENST00000253458p.L1163Lc.3489G>TSubstitution - coding silent
THEMIS2ENSG00000130775ENST00000373921p.R540Wc.1618C>TSubstitution - Missense
CLDN2ENSG00000165376ENST00000541806p.H57Qc.171C>ASubstitution - Missense
RILPENSG00000167705ENST00000301336p.Q253Ec.757C>GSubstitution - Missense
AXIN2ENSG00000168646ENST00000307078p.A718Gc.2153C>GSubstitution - Missense
ABCG1ENSG00000160179ENST00000398457p.?c.864+9G>AUnknown
CES1ENSG00000198848ENST00000360526p.T298Tc.894G>ASubstitution - coding silent
G3BP2ENSG00000138757ENST00000395719p.F351Fc.1053C>TSubstitution - coding silent
CNOT4ENSG00000080802ENST00000541284p.Q242*c.724C>TSubstitution - Nonsense
EXOSC4ENSG00000178896ENST00000316052p.?c.379-6C>GUnknown
TTNENSG00000155657ENST00000342992p.S27745*c.83234C>GSubstitution - Nonsense
CCT8L2ENSG00000198445ENST00000359963p.I552fs*6c.1653_1654insGInsertion - Frameshift
SHISA6ENSG00000188803ENST00000441885p.T261Mc.782C>TSubstitution - Missense
LEF1ENSG00000138795ENST00000265165p.A76Ac.228A>GSubstitution - coding silent
PEG3ENSG00000198300ENST00000326441p.E931Qc.2791G>CSubstitution - Missense
CCDC79ENSG00000249961ENST00000433154p.E402Qc.1204G>CSubstitution - Missense
ENST00000292562_v68p.L155Lc.465G>ASubstitution - coding silent
ENST00000570743p.G645Gc.1935C>TSubstitution - coding silent
CHEK2ENSG00000183765ENST00000328354p.E86Qc.256G>CSubstitution - Missense
RPS9ENSG00000170889ENST00000391752p.L100Lc.300G>CSubstitution - coding silent
RTEL1ENSG00000258366ENST00000370018p.L971Lc.2913G>CSubstitution - coding silent
ZNF805ENSG00000204524ENST00000414468p.M359Tc.1076T>CSubstitution - Missense
ACAP1ENSG00000072818ENST00000158762p.G62Sc.184G>ASubstitution - Missense
NM_006904p.R3269Kc.9806G>ASubstitution - Missense
CYBBENSG00000165168ENST00000378588p.C64Sc.190T>ASubstitution - Missense
PARK2ENSG00000185345ENST00000366898p.T175fs*2c.523delADeletion - Frameshift
USP34ENSG00000115464ENST00000398571p.L1203Lc.3607C>TSubstitution - coding silent
LAMB4ENSG00000091128ENST00000205386p.R137Qc.410G>ASubstitution - Missense
CNTD2ENSG00000105219ENST00000430325p.H134Yc.400C>TSubstitution - Missense
ZSWIM3ENSG00000132801ENST00000255152p.R22Tc.65G>CSubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.T481Tc.1443G>CSubstitution - coding silent
IGSF9ENSG00000085552ENST00000368094p.Q137Kc.409C>ASubstitution - Missense
SIKE1ENSG00000052723ENST00000369528p.?c.160_172-1del233Unknown
BBS9ENSG00000122507ENST00000354265p.R621Wc.1861C>TSubstitution - Missense
PCDH17ENSG00000118946ENST00000377918p.M117Ic.351G>ASubstitution - Missense
SEC31BENSG00000075826ENST00000370345p.R125Tc.374G>CSubstitution - Missense
KIF26BENSG00000162849ENST00000407071p.S1084Fc.3251C>TSubstitution - Missense
CCDC87ENSG00000182791ENST00000333861p.E97*c.289G>TSubstitution - Nonsense
GOLGA8MENSG00000188626ENST00000563027p.S553Fc.1658C>TSubstitution - Missense
N4BP2L2ENSG00000244754ENST00000399396p.L443Lc.1329G>CSubstitution - coding silent
CCAR1ENSG00000060339ENST00000265872p.E766Qc.2296G>CSubstitution - Missense
NM_004667.3p.L2492Fc.7476G>TSubstitution - Missense
MACF1ENSG00000127603ENST00000361689p.E3393Ec.10179G>ASubstitution - coding silent
POLR3GLENSG00000121851ENST00000369314p.E146Kc.436G>ASubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.L757Lc.2271G>ASubstitution - coding silent
RNF111ENSG00000157450ENST00000434298p.P486Tc.1456C>ASubstitution - Missense
EID1ENSG00000255302ENST00000530028p.E152Kc.454G>ASubstitution - Missense
AIM1LENSG00000176092ENST00000527815p.F350Fc.1050C>TSubstitution - coding silent
WDR81ENSG00000167716ENST00000309182p.L733Lc.2199G>ASubstitution - coding silent
MGAT5BENSG00000167889ENST00000428789p.E528Qc.1582G>CSubstitution - Missense
MGAT5BENSG00000167889ENST00000301618p.E517Qc.1549G>CSubstitution - Missense
LINGO2ENSG00000174482ENST00000379992p.R310Hc.929G>ASubstitution - Missense
KIF13AENSG00000137177ENST00000259711p.L309Fc.925C>TSubstitution - Missense
NEK10ENSG00000163491ENST00000429845p.F868Vc.2602T>GSubstitution - Missense
OLIG3ENSG00000177468ENST00000367734p.C161Wc.483C>GSubstitution - Missense
GUSBENSG00000169919ENST00000304895p.V331Vc.993C>TSubstitution - coding silent
CCDC74BENSG00000152076ENST00000310463p.T355Ac.1063A>GSubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.S2466Lc.7397C>TSubstitution - Missense
HDAC10ENSG00000100429ENST00000216271p.N142Nc.426C>TSubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.I2218Ic.6654C>TSubstitution - coding silent
ZNF462ENSG00000148143ENST00000457913p.S960Lc.2879C>TSubstitution - Missense
PTPRDENSG00000153707ENST00000537002p.Y214Hc.640T>CSubstitution - Missense
ZNF232ENSG00000167840ENST00000250076p.L108Lc.324G>ASubstitution - coding silent
AFF2ENSG00000155966ENST00000370460p.S374Yc.1121C>ASubstitution - Missense
UBE2CENSG00000175063ENST00000356455p.L125Lc.375G>CSubstitution - coding silent
SETD3ENSG00000183576ENST00000329331p.E118*c.352G>TSubstitution - Nonsense
ENST00000319748p.I116fs*25c.346_361del16Deletion - Frameshift
SLC12A8ENSG00000221955ENST00000430155p.I409Mc.1227C>GSubstitution - Missense
CHEK2ENSG00000183765ENST00000382565p.E86Qc.256G>CSubstitution - Missense
ELL3ENSG00000128886ENST00000319359p.R55Qc.164G>ASubstitution - Missense
ERBB3ENSG00000065361ENST00000267101p.E1189Kc.3565G>ASubstitution - Missense
ERBB3ENSG00000065361ENST00000267101p.E1218Qc.3652G>CSubstitution - Missense
NUFIP1ENSG00000083635ENST00000379161p.E262Qc.784G>CSubstitution - Missense
ATF1ENSG00000123268ENST00000262053p.M1Lc.1A>TSubstitution - Missense
RNASE13ENSG00000206150ENST00000382951p.D145Hc.433G>CSubstitution - Missense
SEMA4GENSG00000095539ENST00000210633p.L622Lc.1866G>ASubstitution - coding silent
WNK1ENSG00000060237ENST00000537687p.P1067Lc.3200C>TSubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.E3895Ec.11685G>ASubstitution - coding silent
MAP3K9ENSG00000006432ENST00000555993p.L917Lc.2751C>GSubstitution - coding silent
GUCY1A2ENSG00000152402ENST00000526355p.V387Vc.1161G>ASubstitution - coding silent
SLC12A8ENSG00000221955ENST00000393469p.I646Mc.1938C>GSubstitution - Missense
SMARCA2ENSG00000080503ENST00000349721p.D634Nc.1900G>ASubstitution - Missense
ANKRD12ENSG00000101745ENST00000262126p.?c.452-7C>TUnknown
SEC63ENSG00000025796ENST00000369002p.S21Fc.62C>TSubstitution - Missense
DHX40ENSG00000108406ENST00000251241p.E120fs*3c.358_361GAAG>AAAComplex - frameshift
PXDNENSG00000130508ENST00000252804p.T1184Tc.3552G>ASubstitution - coding silent
FGFR3ENSG00000068078ENST00000440486p.I698Ic.2094C>TSubstitution - coding silent
SLC6A3ENSG00000142319ENST00000270349p.T449Tc.1347G>ASubstitution - coding silent
LAMB4ENSG00000091128ENST00000414450p.R137Qc.410G>ASubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.E3393Kc.10177G>ASubstitution - Missense
BNIPLENSG00000163141ENST00000295294p.R227Qc.680G>ASubstitution - Missense
IKBKEENSG00000143466ENST00000367120p.I67Vc.199A>GSubstitution - Missense
C11orf63ENSG00000109944ENST00000227349p.Q13*c.37C>TSubstitution - Nonsense
GOLGA8MENSG00000188626ENST00000563027p.I533Ic.1599T>CSubstitution - coding silent
PARNENSG00000140694ENST00000437198p.P222Pc.666G>ASubstitution - coding silent
TBX3ENSG00000135111ENST00000257566p.A562Vc.1685C>TSubstitution - Missense
KIAA1217ENSG00000120549ENST00000376454p.A968Vc.2903C>TSubstitution - Missense
TMCC2ENSG00000133069ENST00000330675p.D26Nc.76G>ASubstitution - Missense
CPS1ENSG00000021826ENST00000233072p.S65Sc.195C>TSubstitution - coding silent
ANKRD18AENSG00000180071ENST00000399703p.S878Cc.2633C>GSubstitution - Missense
RAC3ENSG00000169750ENST00000306897p.V77Ic.229G>ASubstitution - Missense
GGCXENSG00000115486ENST00000233838p.E541Qc.1621G>CSubstitution - Missense
MAN2B1ENSG00000104774ENST00000221363p.?c.2434-5C>GUnknown
FAM114A1ENSG00000197712ENST00000358869p.G125Gc.375A>GSubstitution - coding silent
SONENSG00000159140ENST00000356577p.M1167Vc.3499A>GSubstitution - Missense
SULT1B1ENSG00000173597ENST00000310613p.T246Tc.738T>CSubstitution - coding silent
CEP192ENSG00000101639ENST00000506447p.H2259Dc.6775C>GSubstitution - Missense
ASXL2ENSG00000143970ENST00000435504p.D1165Nc.3493G>ASubstitution - Missense
RPS9ENSG00000170889ENST00000391752p.E89Kc.265G>ASubstitution - Missense
ENST00000323383p.L158Lc.474C>TSubstitution - coding silent
PRKDCENSG00000253729ENST00000314191p.R3268Kc.9803G>ASubstitution - Missense
ZSCAN18ENSG00000121413ENST00000240727p.A308Ac.924G>ASubstitution - coding silent
SYNJ2ENSG00000078269ENST00000449859p.V158Ic.472G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.P8766Pc.26298A>GSubstitution - coding silent
KLHL30ENSG00000168427ENST00000409223p.A111Vc.332C>TSubstitution - Missense
SRRM2ENSG00000167978ENST00000301740p.T2357Tc.7071C>TSubstitution - coding silent
ARRDC2ENSG00000105643ENST00000222250p.*408*c.1223G>ASubstitution - coding silent
LHFPL2ENSG00000145685ENST00000380345p.S40Gc.118A>GSubstitution - Missense
RBM27ENSG00000091009ENST00000265271p.Q729Qc.2187G>ASubstitution - coding silent
HIST1H3IENSG00000182572ENST00000328488p.E98Qc.292G>CSubstitution - Missense
MAP4K1ENSG00000104814ENST00000396857p.L188Lc.564G>ASubstitution - coding silent
TMEM38AENSG00000072954ENST00000187762p.K107Nc.321G>CSubstitution - Missense
PKN1ENSG00000123143ENST00000342216p.?c.2234+9G>CUnknown
OR5AR1ENSG00000172459ENST00000302969p.Y60Hc.178T>CSubstitution - Missense
CRTAMENSG00000109943ENST00000533709p.S136Lc.407C>TSubstitution - Missense
PODXLENSG00000128567ENST00000541194p.S31_Q32insPSc.64_65insCGTCGCInsertion - In frame
USP40ENSG00000085982ENST00000409945p.T134Ic.401C>TSubstitution - Missense
ZSCAN1ENSG00000152467ENST00000391700p.P28Sc.82C>TSubstitution - Missense
RABEPKENSG00000136933ENST00000373544p.V103fs*17c.305delGDeletion - Frameshift
KCNJ16ENSG00000153822ENST00000392670p.R202Hc.605G>ASubstitution - Missense
GDF11ENSG00000135414ENST00000257868p.A137Sc.409G>TSubstitution - Missense
ITGA7ENSG00000135424ENST00000257879p.R651Rc.1953C>TSubstitution - coding silent
RBMS2ENSG00000076067ENST00000262031p.?c.1143+7G>CUnknown
WNT5BENSG00000111186ENST00000397196p.K348Tc.1043A>CSubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.Q249Qc.747G>ASubstitution - coding silent
NME7ENSG00000143156ENST00000367811p.T45Ac.133A>GSubstitution - Missense
SLC38A4ENSG00000139209ENST00000266579p.E299Gc.896A>GSubstitution - Missense
SRRM4ENSG00000139767ENST00000267260p.R485Rc.1455G>ASubstitution - coding silent
CLCN7ENSG00000103249ENST00000382745p.N393Sc.1178A>GSubstitution - Missense
PCNXENSG00000100731ENST00000304743p.P1319Pc.3957A>GSubstitution - coding silent
OSBPL9ENSG00000117859ENST00000428468p.S46Cc.137C>GSubstitution - Missense
INSRENSG00000171105ENST00000302850p.L96Lc.288C>TSubstitution - coding silent
C19orf38ENSG00000214212ENST00000397820p.R148Kc.443G>ASubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.A647Vc.1940C>TSubstitution - Missense
EIF4G2ENSG00000110321ENST00000339995p.S602Cc.1805C>GSubstitution - Missense
PTPRBENSG00000127329ENST00000334414p.T823Tc.2469C>TSubstitution - coding silent
PLA2G4AENSG00000116711ENST00000367466p.N449Dc.1345A>GSubstitution - Missense
F13BENSG00000143278ENST00000367412p.?c.628+7T>CUnknown
OSBPL9ENSG00000117859ENST00000447887p.S46Cc.137C>GSubstitution - Missense
ING1ENSG00000153487ENST00000333219p.D86Dc.258C>TSubstitution - coding silent
COL4A2ENSG00000134871ENST00000360467p.G1091Dc.3272G>ASubstitution - Missense
FSIP2ENSG00000188738ENST00000343098p.D1364Nc.4090G>ASubstitution - Missense
MYO1FENSG00000142347ENST00000338257p.E255Kc.763G>ASubstitution - Missense
APBA1ENSG00000107282ENST00000265381p.D189Nc.565G>ASubstitution - Missense
GLIS3ENSG00000107249ENST00000381971p.S803Lc.2408C>TSubstitution - Missense
LONP2ENSG00000102910ENST00000285737p.E644Kc.1930G>ASubstitution - Missense
FAM120BENSG00000112584ENST00000476287p.S706Sc.2118A>CSubstitution - coding silent
KIF13AENSG00000137177ENST00000259711p.?c.146+2T>GUnknown
NM_147171.1p.F3023Lc.9069C>GSubstitution - Missense
ABI3BPENSG00000154175ENST00000471714p.T1339Nc.4016C>ASubstitution - Missense
ZNF81ENSG00000197779ENST00000376954p.S59Lc.176C>TSubstitution - Missense
GCFC2ENSG00000005436ENST00000321027p.D620Nc.1858G>ASubstitution - Missense
NDST3ENSG00000164100ENST00000296499p.C194Yc.581G>ASubstitution - Missense
ESRP2ENSG00000103067ENST00000473183p.E233Kc.697G>ASubstitution - Missense
DNASE1L1ENSG00000013563ENST00000369809p.L240Lc.720G>TSubstitution - coding silent
ADAMTSL1ENSG00000178031ENST00000380548p.C1250Cc.3750C>TSubstitution - coding silent
DSTENSG00000151914ENST00000370769p.I3737Tc.11210T>CSubstitution - Missense
CDH7ENSG00000081138ENST00000323011p.L605Lc.1815C>TSubstitution - coding silent
JADE2ENSG00000043143ENST00000395003p.?c.59-7T>CUnknown
PTPRDENSG00000153707ENST00000381196p.Y217Hc.649T>CSubstitution - Missense
ENST00000346816p.Y217Hc.649T>CSubstitution - Missense
ENST00000404991_v68p.P418Pc.1254A>GSubstitution - coding silent
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
MOSPD2ENSG00000130150ENST00000380492p.Q487Qc.1461A>GSubstitution - coding silent
MYO10ENSG00000145555ENST00000274203p.T1843Ic.5528C>TSubstitution - Missense
JPH2ENSG00000149596ENST00000372980p.R336Hc.1007G>ASubstitution - Missense
AF083811.1p.R529*c.1585C>TSubstitution - Nonsense
ITGB8ENSG00000105855ENST00000222573p.S190Lc.569C>TSubstitution - Missense
AASDHENSG00000157426ENST00000205214p.L611Lc.1831C>TSubstitution - coding silent
ZNF131ENSG00000172262ENST00000306938p.L313Vc.937C>GSubstitution - Missense
USE1ENSG00000053501ENST00000263897p.E75Kc.223G>ASubstitution - Missense
MYO10ENSG00000145555ENST00000274203p.?c.467+5C>TUnknown
SIKE1ENSG00000052723ENST00000369528p.?c.277+1_278-1del825Unknown
USP34ENSG00000115464ENST00000398571p.D1538Nc.4612G>ASubstitution - Missense
CENPFENSG00000117724ENST00000366955p.Q571fs*4c.1711delCDeletion - Frameshift
PTGES3ENSG00000110958ENST00000262033p.V101Vc.303C>TSubstitution - coding silent
TCEA3ENSG00000204219ENST00000450454p.W345Cc.1035G>TSubstitution - Missense
PLEKHA5ENSG00000052126ENST00000309364p.I369Mc.1107C>GSubstitution - Missense
EML3ENSG00000149499ENST00000394773p.V81Vc.243G>TSubstitution - coding silent
ADCY10ENSG00000143199ENST00000367851p.M1277Vc.3829A>GSubstitution - Missense
DCDC1ENSG00000170959ENST00000342355p.L76Lc.228C>TSubstitution - coding silent
LRIF1ENSG00000121931ENST00000369763p.S710*c.2129C>GSubstitution - Nonsense
FAM107BENSG00000065809ENST00000181796p.F40Fc.120C>TSubstitution - coding silent
MINK1ENSG00000141503ENST00000347992p.?c.3143-9G>AUnknown
BCL2L12ENSG00000126453ENST00000246785p.P36Tc.106C>ASubstitution - Missense
C9orf131ENSG00000174038ENST00000312292p.L1004Vc.3010C>GSubstitution - Missense
KANK1ENSG00000107104ENST00000382293p.I126Ic.378C>ASubstitution - coding silent
IRX3ENSG00000177508ENST00000329734p.G203Ec.608G>ASubstitution - Missense
ABCG1ENSG00000160179ENST00000361802p.?c.858+9G>AUnknown
ITSN1ENSG00000205726ENST00000381318p.G238Rc.712G>ASubstitution - Missense
ENST00000316347p.F115Lc.345C>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.S21440*c.64319C>GSubstitution - Nonsense
ARVCFENSG00000099889ENST00000263207p.V131Vc.393G>ASubstitution - coding silent
MYH13ENSG00000006788ENST00000252172p.G645Gc.1935C>TSubstitution - coding silent
ANKMY1ENSG00000144504ENST00000391987p.G412Sc.1234G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.M6920Ic.20760G>CSubstitution - Missense
COL4A4ENSG00000081052ENST00000396625p.E271Qc.811G>CSubstitution - Missense
UGT1A8ENSG00000241635ENST00000373450p.F93Fc.279C>TSubstitution - coding silent
THSD7AENSG00000005108ENST00000423059p.Y1475Yc.4425T>CSubstitution - coding silent
MAGEA8ENSG00000156009ENST00000535454p.A175Ac.525C>TSubstitution - coding silent
TEX101ENSG00000131126ENST00000253435p.?c.262+8G>AUnknown
FGFR3ENSG00000068078ENST00000340107p.I700Ic.2100C>TSubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.E3097*c.9289G>TSubstitution - Nonsense
RASSF4ENSG00000107551ENST00000428466p.I46Tc.137T>CSubstitution - Missense
ATXN2LENSG00000168488ENST00000340394p.Q793Ec.2377C>GSubstitution - Missense
KCNK1ENSG00000135750ENST00000446915p.L141Lc.423G>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000341594p.S6231Fc.18692C>TSubstitution - Missense
MIA3ENSG00000154305ENST00000344922p.Q1022Ec.3064C>GSubstitution - Missense
ERBB3ENSG00000065361ENST00000267101p.E1189Kc.3565G>ASubstitution - Missense
FCRL1ENSG00000163534ENST00000368176p.E379Kc.1135G>ASubstitution - Missense
PSMB5ENSG00000100804ENST00000361611p.D226Dc.678T>CSubstitution - coding silent
XCL2ENSG00000143185ENST00000367819p.T37Tc.111C>GSubstitution - coding silent
ENST00000438990p.V125Vc.375G>CSubstitution - coding silent
ENSG00000234719ENST00000399147p.W341Rc.1021T>CSubstitution - Missense
ANKRD26ENSG00000107890ENST00000376087p.E533Qc.1597G>CSubstitution - Missense
TTC6ENSG00000139865ENST00000267368p.L326Fc.976C>TSubstitution - Missense
MSTO1ENSG00000125459ENST00000245564p.Q452*c.1354C>TSubstitution - Nonsense
TTC7BENSG00000165914ENST00000328459p.Q543*c.1627C>TSubstitution - Nonsense
STAT4ENSG00000138378ENST00000358470p.S428Sc.1284C>TSubstitution - coding silent
RANBP3ENSG00000031823ENST00000340578p.A350Tc.1048G>ASubstitution - Missense
GRM8ENSG00000179603ENST00000339582p.F21Fc.63C>TSubstitution - coding silent
GLIS3ENSG00000107249ENST00000324333p.S648Lc.1943C>TSubstitution - Missense
TTYH1ENSG00000167614ENST00000376530p.I244Mc.732C>GSubstitution - Missense
NDUFV3ENSG00000160194ENST00000354250p.E63Dc.189G>CSubstitution - Missense
GRINAENSG00000178719ENST00000395068p.S338Sc.1014C>TSubstitution - coding silent
KRTAP29-1ENSG00000212658ENST00000391353p.S190Lc.569C>TSubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.S1629Rc.4887T>GSubstitution - Missense
D2HGDHENSG00000180902ENST00000321264p.Y462Yc.1386C>TSubstitution - coding silent
TRMT2AENSG00000099899ENST00000252136p.E465Kc.1393G>ASubstitution - Missense
BBXENSG00000114439ENST00000325805p.S589*c.1766C>GSubstitution - Nonsense
NEFHENSG00000100285ENST00000310624p.K749Kc.2247G>ASubstitution - coding silent
SEC24BENSG00000138802ENST00000399100p.E869Kc.2605G>ASubstitution - Missense
CCDC108ENSG00000181378ENST00000341552p.R922Qc.2765G>ASubstitution - Missense
FTSJ2ENSG00000122687ENST00000242257p.G73Sc.217G>ASubstitution - Missense
DSTENSG00000151914ENST00000244364p.I1323Tc.3968T>CSubstitution - Missense
DSTENSG00000151914ENST00000244364p.E1896Kc.5686G>ASubstitution - Missense
MAGENSG00000105695ENST00000392213p.V302Dc.905T>ASubstitution - Missense
ENSG00000272333ENST00000222270p.L893Lc.2679C>TSubstitution - coding silent
RORBENSG00000198963ENST00000376896p.R50Tc.149G>CSubstitution - Missense
RADILENSG00000157927ENST00000399583p.A96Vc.287C>TSubstitution - Missense
SARS2ENSG00000104835ENST00000430193p.E69Qc.205G>CSubstitution - Missense
HIST1H2BOENSG00000196331ENST00000303806p.M1Lc.1A>TSubstitution - Missense
C5orf34ENSG00000172244ENST00000306862p.I89Rc.266T>GSubstitution - Missense
SPATA24ENSG00000170469ENST00000451821p.E45Kc.133G>ASubstitution - Missense
SENP1ENSG00000079387ENST00000448372p.V526Gc.1577T>GSubstitution - Missense
HPS1ENSG00000107521ENST00000338546p.Q150Qc.450G>ASubstitution - coding silent
PMLENSG00000140464ENST00000569477p.S637Fc.1910C>TSubstitution - Missense
SIKE1ENSG00000052723ENST00000369528p.?c.534+1_535-1del1973Unknown
SYNE1ENSG00000131018ENST00000448038p.P8718Pc.26154A>GSubstitution - coding silent
TENM2ENSG00000145934ENST00000545108p.H263Yc.787C>TSubstitution - Missense
CUL4BENSG00000158290ENST00000336592p.?c.1953+7G>AUnknown
TMOD3ENSG00000138594ENST00000308580p.?c.406+5C>GUnknown
CEP120ENSG00000168944ENST00000306467p.R550Kc.1649G>ASubstitution - Missense
XM_373347.2p.R197*c.589C>TSubstitution - Nonsense
C10orf128ENSG00000204161ENST00000474718p.P83Pc.249G>ASubstitution - coding silent
DUSP10ENSG00000143507ENST00000366899p.L53Lc.159C>GSubstitution - coding silent
POU4F1ENSG00000152192ENST00000377208p.A287Ac.861C>ASubstitution - coding silent
CLEC12BENSG00000256660ENST00000338896p.T178Sc.532A>TSubstitution - Missense
UPF2ENSG00000151461ENST00000356352p.F161Fc.483C>TSubstitution - coding silent
SLC7A1ENSG00000139514ENST00000380752p.I571Ic.1713C>TSubstitution - coding silent
VPS13DENSG00000048707ENST00000358136p.R2213Sc.6639G>CSubstitution - Missense
ANKRD26ENSG00000107890ENST00000376087p.?c.1269+7T>AUnknown
DYNC2H1ENSG00000187240ENST00000398093p.A138Ac.414A>CSubstitution - coding silent
FNTBENSG00000257365ENST00000246166p.S212Lc.635C>TSubstitution - Missense
SACSENSG00000151835ENST00000382298p.S680Fc.2039C>TSubstitution - Missense
FAM120AENSG00000048828ENST00000277165p.F173Lc.519C>ASubstitution - Missense
PTCH1ENSG00000185920ENST00000331920p.G37Rc.109G>CSubstitution - Missense
CCDC160ENSG00000203952ENST00000517294p.N283Dc.847A>GSubstitution - Missense
TTYH1ENSG00000167614ENST00000376531p.I244Mc.732C>GSubstitution - Missense
NM_020528.1p.S149Sc.447G>CSubstitution - coding silent
KIF13AENSG00000137177ENST00000259711p.L309Fc.925C>TSubstitution - Missense
ENST00000356127p.S27743*c.83228C>GSubstitution - Nonsense
LOXHD1ENSG00000167210ENST00000398722p.I195Ic.585C>TSubstitution - coding silent
SFI1ENSG00000198089ENST00000400288p.?c.2416-9C>TUnknown
RTEL1ENSG00000258366ENST00000318100p.L971Lc.2913G>CSubstitution - coding silent
GTF2IRD1ENSG00000006704ENST00000265755p.R268*c.802C>TSubstitution - Nonsense
BCAMENSG00000187244ENST00000270233p.Q116Qc.348G>ASubstitution - coding silent
ENSG00000272333ENST00000222270p.P859Sc.2575C>TSubstitution - Missense
KCNH2ENSG00000055118ENST00000262186p.F424Fc.1272C>TSubstitution - coding silent
ATP2B3ENSG00000067842ENST00000359149p.M925Ic.2775G>TSubstitution - Missense
GIMAP8ENSG00000171115ENST00000307271p.E407Ec.1221A>GSubstitution - coding silent
LAMB1ENSG00000091136ENST00000222399p.C298Yc.893G>ASubstitution - Missense
LPHN1ENSG00000072071ENST00000340736p.N97Nc.291C>TSubstitution - coding silent
GRIP1ENSG00000155974ENST00000359742p.R178Hc.533G>ASubstitution - Missense
ZNF112ENSG00000062370ENST00000536500p.G632Gc.1896G>ASubstitution - coding silent
ABCA8ENSG00000141338ENST00000430352p.R1218Pc.3653G>CSubstitution - Missense
EPB41L3ENSG00000082397ENST00000542146p.A171Ac.513G>ASubstitution - coding silent
DHX40ENSG00000108406ENST00000451169p.D38Vc.113A>TSubstitution - Missense
VWFENSG00000110799ENST00000261405p.V1401Ic.4201G>ASubstitution - Missense
CCDC63ENSG00000173093ENST00000308208p.A27Ac.81G>ASubstitution - coding silent
ANKRD2ENSG00000165887ENST00000307518p.E19Kc.55G>ASubstitution - Missense
ENST00000356369p.T324Mc.971C>TSubstitution - Missense
F2ENSG00000180210ENST00000311907p.A226Vc.677C>TSubstitution - Missense
SYNPO2LENSG00000166317ENST00000394810p.E26Kc.76G>ASubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.I2337Ic.7011C>TSubstitution - coding silent
HPS1ENSG00000107521ENST00000325103p.Q150Qc.450G>ASubstitution - coding silent
FGF19ENSG00000162344ENST00000294312p.V85Vc.255C>ASubstitution - coding silent
ENO4ENSG00000188316ENST00000341276p.T219Kc.656C>ASubstitution - Missense
TMX1ENSG00000139921ENST00000457354p.A8Gc.23C>GSubstitution - Missense
C8AENSG00000157131ENST00000361249p.R577Rc.1731G>CSubstitution - coding silent
TAC4ENSG00000176358ENST00000334568p.?c.217+2T>CUnknown
ZNF66ENSG00000160229ENST00000360204p.K239Rc.716A>GSubstitution - Missense
ENST00000005905p.V991Ic.2971G>ASubstitution - Missense
ENST00000318252p.D2854Yc.8560G>TSubstitution - Missense
ENST00000273600p.I2160Ic.6480C>TSubstitution - coding silent
ENST00000366809p.G365Ec.1094G>ASubstitution - Missense
MC1RENSG00000258839ENST00000555147p.A299Tc.895G>ASubstitution - Missense
SPIRE2ENSG00000204991ENST00000378247p.?c.646-1G>AUnknown
BBXENSG00000114439ENST00000415149p.S589*c.1766C>GSubstitution - Nonsense
ENSG00000179755ENST00000319817p.D3Ac.8A>CSubstitution - Missense
GOLGA7ENSG00000147533ENST00000357743p.Q98Ec.292C>GSubstitution - Missense
RETSATENSG00000042445ENST00000295802p.?c.799+1delgUnknown
RMND1ENSG00000155906ENST00000367303p.A8Ac.24C>TSubstitution - coding silent
ENST00000396788p.Q697Pc.2090A>CSubstitution - Missense
USP40ENSG00000085982ENST00000450966p.T970Ic.2909C>TSubstitution - Missense
GRWD1ENSG00000105447ENST00000253237p.I286Mc.858C>GSubstitution - Missense
SETD2ENSG00000181555ENST00000330022p.R1572Sc.4716G>CSubstitution - Missense
FCHO1ENSG00000130475ENST00000252771p.?c.28-4G>CUnknown
RAC2ENSG00000128340ENST00000249071p.Q180Ec.538C>GSubstitution - Missense
ZNF366ENSG00000178175ENST00000318442p.V234Vc.702G>CSubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.I2218Ic.6654C>TSubstitution - coding silent
LGALS2ENSG00000100079ENST00000215886p.P78Rc.233C>GSubstitution - Missense
MSI2ENSG00000153944ENST00000284073p.C50Sc.149G>CSubstitution - Missense
NM_133482.1p.E1145Qc.3433G>CSubstitution - Missense
RASL10BENSG00000141150ENST00000268864p.?c.342-10C>TUnknown
ZNF302ENSG00000089335ENST00000505242p.S164Rc.492T>GSubstitution - Missense
CNGA3ENSG00000144191ENST00000272602p.C578Rc.1732T>CSubstitution - Missense
RTEL1ENSG00000258366ENST00000508582p.L995Lc.2985G>CSubstitution - coding silent
CREBBPENSG00000005339ENST00000262367p.H1713Hc.5139C>TSubstitution - coding silent
ZNF274ENSG00000171606ENST00000345813p.Q605Qc.1815G>ASubstitution - coding silent
NHSL1ENSG00000135540ENST00000342260p.S413Cc.1238C>GSubstitution - Missense
C6orf99ENSG00000203711ENST00000367073p.P85Pc.255G>CSubstitution - coding silent
MLPHENSG00000115648ENST00000264605p.S54Cc.161C>GSubstitution - Missense
CNTNAP5ENSG00000155052ENST00000431078p.Q1061*c.3181C>TSubstitution - Nonsense
USP40ENSG00000085982ENST00000450966p.T970Ic.2909C>TSubstitution - Missense
ARMC6ENSG00000105676ENST00000535612p.I354Ic.1062C>TSubstitution - coding silent
FAM46DENSG00000174016ENST00000538312p.E205Kc.613G>ASubstitution - Missense
NETO1ENSG00000166342ENST00000327305p.L82Rc.245T>GSubstitution - Missense
SBF1ENSG00000100241ENST00000380817p.?c.1332+2T>CUnknown
FBXW7ENSG00000109670ENST00000263981p.R399Gc.1195C>GSubstitution - Missense
TMEM245ENSG00000106771ENST00000374586p.Q532Qc.1596G>ASubstitution - coding silent
ANKFY1ENSG00000185722ENST00000574367p.V592Ac.1775T>CSubstitution - Missense
BCLAF1ENSG00000029363ENST00000531224p.?c.2733_2758-3>22Unknown
SOX30ENSG00000039600ENST00000265007p.P595Tc.1783C>ASubstitution - Missense
ME1ENSG00000065833ENST00000369705p.A327Gc.980C>GSubstitution - Missense
FANCBENSG00000181544ENST00000324138p.T663Ac.1987A>GSubstitution - Missense
CEACAM1ENSG00000079385ENST00000161559p.N303Nc.909C>TSubstitution - coding silent
IFT52ENSG00000101052ENST00000373039p.T359Mc.1076C>TSubstitution - Missense
XIRP2ENSG00000163092ENST00000295237p.P3Pc.9A>GSubstitution - coding silent
OR9G1ENSG00000174914ENST00000312153p.S253Cc.758C>GSubstitution - Missense
NRP2ENSG00000118257ENST00000540841p.C175Cc.525C>TSubstitution - coding silent
TBX19ENSG00000143178ENST00000441464p.P137Pc.411C>GSubstitution - coding silent
ENST00000314583_v70p.N376Tc.1127A>CSubstitution - Missense
KCNH2ENSG00000055118ENST00000330883p.F84Fc.252C>TSubstitution - coding silent
NEIL1ENSG00000140398ENST00000355059p.I379Sc.1136T>GSubstitution - Missense
PTPROENSG00000151490ENST00000281171p.F976Fc.2928C>TSubstitution - coding silent
CCDC147ENSG00000120051ENST00000369704p.F39Sc.116T>CSubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.E778Ec.2334A>GSubstitution - coding silent
ATF6ENSG00000118217ENST00000367942p.R560Hc.1679G>ASubstitution - Missense
RELAENSG00000173039ENST00000406246p.K123Rc.368A>GSubstitution - Missense
INSCENSG00000188487ENST00000379554p.E89_C90delECc.258_263delCGAGTGDeletion - In frame
USP8ENSG00000138592ENST00000307179p.A354Ac.1062A>GSubstitution - coding silent
PLEKHA6ENSG00000143850ENST00000272203p.R87Hc.260G>ASubstitution - Missense
NRP2ENSG00000118257ENST00000272849p.C175Cc.525C>TSubstitution - coding silent
TMEM255AENSG00000125355ENST00000309720p.R196Qc.587G>ASubstitution - Missense
PEX11GENSG00000104883ENST00000221480p.D67Hc.199G>CSubstitution - Missense
KCNV2ENSG00000168263ENST00000382082p.T268Ic.803C>TSubstitution - Missense
RAD23AENSG00000179262ENST00000316856p.?c.979-7C>TUnknown
ETV1ENSG00000006468ENST00000430479p.E444Kc.1330G>ASubstitution - Missense
BTG3ENSG00000154640ENST00000339775p.D114Dc.342C>TSubstitution - coding silent
PFASENSG00000178921ENST00000314666p.R572Qc.1715G>ASubstitution - Missense
DYNC1I1ENSG00000158560ENST00000324972p.Q206fs*30c.615_616insAInsertion - Frameshift
CNGA3ENSG00000144191ENST00000272602p.T259Tc.777C>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.S6619Fc.19856C>TSubstitution - Missense
CCT4ENSG00000115484ENST00000394440p.D118Yc.352G>TSubstitution - Missense
KIAA2018ENSG00000176542ENST00000316407p.K1577Nc.4731G>CSubstitution - Missense
SESN1ENSG00000080546ENST00000436639p.E436Qc.1306G>CSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.P1223Pc.3669C>TSubstitution - coding silent
PTPRDENSG00000153707ENST00000355233p.Y217Hc.649T>CSubstitution - Missense
MARVELD3ENSG00000140832ENST00000299952p.L213Lc.639C>TSubstitution - coding silent
COL13A1ENSG00000197467ENST00000356340p.R316Wc.946C>TSubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.E3406Kc.10216G>ASubstitution - Missense
HADHENSG00000138796ENST00000403312p.S19Lc.56C>TSubstitution - Missense
GGT6ENSG00000167741ENST00000301395p.E423Kc.1267G>ASubstitution - Missense
KLF6ENSG00000067082ENST00000469435p.R198Rc.594G>ASubstitution - coding silent
TP63ENSG00000073282ENST00000418709p.S154Fc.461C>TSubstitution - Missense
SUSD4ENSG00000143502ENST00000344029p.S79Fc.236C>TSubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.S866*c.2597C>GSubstitution - Nonsense
BOLA1ENSG00000178096ENST00000369150p.T38Tc.114G>ASubstitution - coding silent
CGNENSG00000143375ENST00000271636p.S176Yc.527C>ASubstitution - Missense
WAPALENSG00000062650ENST00000298767p.N781Nc.2343C>TSubstitution - coding silent
BARX2ENSG00000043039ENST00000281437p.G113Gc.339C>TSubstitution - coding silent
ENST00000510439_v68p.D164fs*6c.488delADeletion - Frameshift
ENST00000450802_v68p.F374Fc.1122C>TSubstitution - coding silent
CGNENSG00000143375ENST00000271636p.R413Rc.1239G>ASubstitution - coding silent
FAM78BENSG00000188859ENST00000354422p.R54Rc.162C>TSubstitution - coding silent
ENST00000399147_v68p.W341Rc.1021T>CSubstitution - Missense
NUBPLENSG00000151413ENST00000281081p.?c.382+5G>TUnknown
NM_014363.3p.S533Fc.1598C>TSubstitution - Missense
SAMD11ENSG00000187634ENST00000342066p.L654Vc.1960C>GSubstitution - Missense
ENST00000409172p.L114Rc.341T>GSubstitution - Missense
GRM8ENSG00000179603ENST00000405249p.F21Fc.63C>TSubstitution - coding silent
AHCYL2ENSG00000158467ENST00000474594p.L387Vc.1159C>GSubstitution - Missense
C19orf52ENSG00000142444ENST00000270502p.E188Kc.562G>ASubstitution - Missense
SAMD9LENSG00000177409ENST00000318238p.L1211Vc.3631C>GSubstitution - Missense
AKR1D1ENSG00000122787ENST00000242375p.L106Lc.318C>TSubstitution - coding silent
MYH2ENSG00000125414ENST00000245503p.L430Vc.1288C>GSubstitution - Missense
SLC7A5ENSG00000103257ENST00000261622p.H319Yc.955C>TSubstitution - Missense
ATG12ENSG00000145782ENST00000274459p.L35Lc.105C>GSubstitution - coding silent
FNDC1ENSG00000164694ENST00000297267p.R1308Hc.3923G>ASubstitution - Missense
SP100ENSG00000067066ENST00000264052p.K801Kc.2403G>ASubstitution - coding silent
ZDHHC3ENSG00000163812ENST00000339420p.L53Lc.159C>TSubstitution - coding silent
CYLC1ENSG00000183035ENST00000329312p.G598Sc.1792G>ASubstitution - Missense
ENST00000349653p.V544Vc.1632C>GSubstitution - coding silent
ZC3H7BENSG00000100403ENST00000352645p.F871Lc.2613C>ASubstitution - Missense
PRMT10ENSG00000164169ENST00000322396p.T485Ic.1454C>TSubstitution - Missense
MSI2ENSG00000153944ENST00000322684p.C46Sc.137G>CSubstitution - Missense
SGSM1ENSG00000167037ENST00000400358p.E763Kc.2287G>ASubstitution - Missense
NM_007181p.L188Lc.564G>ASubstitution - coding silent
ABCB5ENSG00000004846ENST00000404938p.?c.53+6C>TUnknown
SCFD2ENSG00000184178ENST00000401642p.V487Ic.1459G>ASubstitution - Missense
C4orf50ENSG00000181215ENST00000531445p.L663Lc.1989G>ASubstitution - coding silent
CUL9ENSG00000112659ENST00000252050p.F1968Fc.5904C>TSubstitution - coding silent
PKD1ENSG00000008710ENST00000262304p.A1368Ac.4104G>ASubstitution - coding silent
ARHGEF1ENSG00000076928ENST00000337665p.R810Qc.2429G>ASubstitution - Missense
FNIP2ENSG00000052795ENST00000264433p.N574Nc.1722C>TSubstitution - coding silent
NCAPGENSG00000109805ENST00000251496p.G753Gc.2259C>TSubstitution - coding silent
DHX40ENSG00000108406ENST00000451169p.E21fs*3c.61_64GAAG>AAAComplex - frameshift
ENST00000358313p.S664Lc.1991C>TSubstitution - Missense
ERBB3ENSG00000065361ENST00000267101p.Q1340Hc.4020G>CSubstitution - Missense
OTOGLENSG00000165899ENST00000298820p.G501Cc.1501G>TSubstitution - Missense
DDX25ENSG00000109832ENST00000263576p.E449Ec.1347A>GSubstitution - coding silent
NM_013264.2p.E335Ec.1005A>GSubstitution - coding silent
KCTD14ENSG00000151364ENST00000353172p.V198Ic.592G>ASubstitution - Missense
TMED3ENSG00000166557ENST00000299705p.H160Qc.480T>GSubstitution - Missense
ENST00000423014_v68p.L75Fc.223C>TSubstitution - Missense
GOLGA8IENSG00000153666ENST00000450802p.F374Fc.1122C>TSubstitution - coding silent
SIKE1ENSG00000052723ENST00000060969p.?c.522+1_523-1del1973Unknown
ALKBH8ENSG00000137760ENST00000428149p.R95Tc.284G>CSubstitution - Missense
CACNA1EENSG00000198216ENST00000367570p.S351Sc.1053C>TSubstitution - coding silent
OSBPL9ENSG00000117859ENST00000447887p.S46Cc.137C>GSubstitution - Missense
MROH2BENSG00000171495ENST00000399564p.G603Gc.1809C>TSubstitution - coding silent
BDKRB1ENSG00000100739ENST00000216629p.A154Ac.462C>TSubstitution - coding silent
ESPNENSG00000187017ENST00000377828p.I681Ic.2043C>TSubstitution - coding silent
PAQR5ENSG00000137819ENST00000395407p.F305Fc.915C>TSubstitution - coding silent
WDR81ENSG00000167716ENST00000409644p.L1784Lc.5352G>ASubstitution - coding silent
ACTRT1ENSG00000123165ENST00000371124p.A361Ac.1083A>GSubstitution - coding silent
ENST00000300671p.E4134Qc.12400G>CSubstitution - Missense
NM_024863.3p.C112Yc.335G>ASubstitution - Missense
GRM8ENSG00000179603ENST00000339582p.?c.1494+9C>TUnknown
MYL12AENSG00000101608ENST00000579226p.R160Hc.479G>ASubstitution - Missense
RGL3ENSG00000205517ENST00000380456p.S247Gc.739A>GSubstitution - Missense
RAD54L2ENSG00000164080ENST00000409535p.E556Kc.1666G>ASubstitution - Missense
ABHD3ENSG00000158201ENST00000289119p.D291Nc.871G>ASubstitution - Missense
ENST00000458043_v65p.H1303Yc.3907C>TSubstitution - Missense
FCRL5ENSG00000143297ENST00000356953p.E831*c.2491G>TSubstitution - Nonsense
TMCC2ENSG00000133069ENST00000367159p.D55Nc.163G>ASubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.E3393Ec.10179G>ASubstitution - coding silent
GOLGA8HENSG00000261794ENST00000566740p.?c.786+10C>GUnknown
TTC7BENSG00000165914ENST00000357056p.Q543*c.1627C>TSubstitution - Nonsense
TTC6ENSG00000139865ENST00000382320p.L406Fc.1216C>TSubstitution - Missense
ABCC1ENSG00000103222ENST00000399408p.S312Fc.935C>TSubstitution - Missense
MYCBPAPENSG00000136449ENST00000436259p.L854Lc.2562C>TSubstitution - coding silent
ENST00000301659_v70p.?c.1022-2A>GUnknown
ZNF232ENSG00000167840ENST00000416429p.L81Lc.243G>ASubstitution - coding silent
TBCDENSG00000141556ENST00000397466p.?c.160+3G>AUnknown
DNAH17ENSG00000187775ENST00000389840p.E4133Qc.12397G>CSubstitution - Missense
KIAA0195ENSG00000177728ENST00000314256p.R388Kc.1163G>ASubstitution - Missense
EPB41L3ENSG00000082397ENST00000544123p.A697Ac.2091G>ASubstitution - coding silent
KIAA1328ENSG00000150477ENST00000591619p.S30Fc.89C>TSubstitution - Missense
C19orf55ENSG00000167595ENST00000535581p.?c.440-6C>TUnknown
TSKSENSG00000126467ENST00000358830p.C355Wc.1065C>GSubstitution - Missense
CEACAM1ENSG00000079385ENST00000358394p.N303Nc.909C>TSubstitution - coding silent
ZSCAN1ENSG00000152467ENST00000282326p.P28Sc.82C>TSubstitution - Missense
NFATC2ENSG00000101096ENST00000371564p.P347Pc.1041G>ASubstitution - coding silent
SONENSG00000159140ENST00000290239p.M1167Vc.3499A>GSubstitution - Missense
ITSN1ENSG00000205726ENST00000381285p.G238Rc.712G>ASubstitution - Missense
ITSN1ENSG00000205726ENST00000399338p.G238Rc.712G>ASubstitution - Missense
CCDC74BENSG00000152076ENST00000392984p.T457Ac.1369A>GSubstitution - Missense
ITGA6ENSG00000091409ENST00000264106p.E1102Ec.3306G>ASubstitution - coding silent
C2orf16ENSG00000221843ENST00000408964p.S1765Rc.5295C>ASubstitution - Missense
ENST00000314583_v70p.N376Hc.1126A>CSubstitution - Missense
SIKE1ENSG00000052723ENST00000369528p.?c.420+2_421del2682Unknown
MIPOL1ENSG00000151338ENST00000545536p.S6fs*9c.13delADeletion - Frameshift
PODXLENSG00000128567ENST00000537928p.S31_Q32insPSc.64_65insCGTCGCInsertion - In frame
CACNA1EENSG00000198216ENST00000357570p.S302Sc.906C>TSubstitution - coding silent
COL13A1ENSG00000197467ENST00000398972p.R316Wc.946C>TSubstitution - Missense
AASDHENSG00000157426ENST00000502617p.L611Lc.1831C>TSubstitution - coding silent
ENST00000448712p.?c.107-7T>CUnknown
MYO10ENSG00000145555ENST00000513610p.T1843Ic.5528C>TSubstitution - Missense
ZNF131ENSG00000172262ENST00000399534p.L347Vc.1039C>GSubstitution - Missense
MYO10ENSG00000145555ENST00000513610p.?c.467+5C>TUnknown
MAST4ENSG00000069020ENST00000403666p.R1449Wc.4345C>TSubstitution - Missense
MAST4ENSG00000069020ENST00000261569p.R1444Wc.4330C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.M6849Ic.20547G>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.M6532Ic.19596G>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.S6548Fc.19643C>TSubstitution - Missense
FAM120BENSG00000112584ENST00000537664p.S729Sc.2187A>CSubstitution - coding silent
TIAM2ENSG00000146426ENST00000367174p.T345Tc.1035T>CSubstitution - coding silent
SRPK2ENSG00000135250ENST00000393651p.V263Vc.789G>ASubstitution - coding silent
AHCYL2ENSG00000158467ENST00000531335p.L409Vc.1225C>GSubstitution - Missense
GRM8ENSG00000179603ENST00000358373p.?c.1494+9C>TUnknown
GRM8ENSG00000179603ENST00000358373p.F21Fc.63C>TSubstitution - coding silent
CACNA2D1ENSG00000153956ENST00000356253p.Y626*c.1878C>ASubstitution - Nonsense
ZFHX4ENSG00000091656ENST00000050961p.S1584Rc.4752T>GSubstitution - Missense
ERLIN2ENSG00000147475ENST00000523887p.F117Fc.351C>TSubstitution - coding silent
FOXB2ENSG00000204612ENST00000376708p.V302Mc.904G>ASubstitution - Missense
FOXB2ENSG00000204612ENST00000376708p.V302Mc.904G>ASubstitution - Missense
XM_498331.1p.V168Mc.502G>ASubstitution - Missense
PCSK5ENSG00000099139ENST00000424854p.V923Ic.2767G>ASubstitution - Missense
C9orf131ENSG00000174038ENST00000421362p.L956Vc.2866C>GSubstitution - Missense
NFX1ENSG00000086102ENST00000318524p.G751Gc.2253T>CSubstitution - coding silent
FAM120AENSG00000048828ENST00000333936p.F173Lc.519C>ASubstitution - Missense
PTPRDENSG00000153707ENST00000397617p.Y211Hc.631T>CSubstitution - Missense
TAF1ENSG00000147133ENST00000449580p.E1551Ec.4653G>ASubstitution - coding silent
FBXW7ENSG00000109670ENST00000281708p.R479Gc.1435C>GSubstitution - Missense
BNIPLENSG00000163141ENST00000368931p.R309Qc.926G>ASubstitution - Missense
DUSP13ENSG00000079393ENST00000372700p.T245Mc.734C>TSubstitution - Missense
NDUFA4ENSG00000189043ENST00000339600p.R78Cc.232C>TSubstitution - Missense
ASZ1ENSG00000154438ENST00000284629p.E337delEc.1008_1010delAGADeletion - In frame
KELENSG00000197993ENST00000355265p.R292Qc.875G>ASubstitution - Missense
KRBA1ENSG00000133619ENST00000255992p.F586Fc.1758C>TSubstitution - coding silent
ENST00000404991_v68p.E357Kc.1069G>ASubstitution - Missense
PAPOLBENSG00000218823ENST00000404991p.E357Kc.1069G>ASubstitution - Missense
PILRAENSG00000085514ENST00000198536p.S134*c.401C>GSubstitution - Nonsense
SCNN1BENSG00000168447ENST00000343070p.Q591*c.1771C>TSubstitution - Nonsense
SCNN1BENSG00000168447ENST00000307331p.Q636*c.1906C>TSubstitution - Nonsense
ABCA3ENSG00000167972ENST00000301732p.L633Lc.1899G>CSubstitution - coding silent
CC2D1AENSG00000132024ENST00000318003p.R618Qc.1853G>ASubstitution - Missense
NANOS3ENSG00000187556ENST00000339133p.K81Kc.243A>GSubstitution - coding silent
RBBP6ENSG00000122257ENST00000319715p.H624Yc.1870C>TSubstitution - Missense
PKN1ENSG00000123143ENST00000242783p.?c.2216+9G>CUnknown
PALM3ENSG00000187867ENST00000340790p.G438Ec.1313G>ASubstitution - Missense
GRIK5ENSG00000105737ENST00000262895p.E653Kc.1957G>ASubstitution - Missense
GRIK5ENSG00000105737ENST00000301218p.E653Kc.1957G>ASubstitution - Missense
KCNN4ENSG00000104783ENST00000262888p.A106Ac.318G>ASubstitution - coding silent
PLIN4ENSG00000167676ENST00000301286p.T553Tc.1659G>CSubstitution - coding silent
NCOA5ENSG00000124160ENST00000290231p.R103*c.307C>TSubstitution - Nonsense
ZEB2ENSG00000169554ENST00000303660p.Q3Hc.9G>CSubstitution - Missense
CHIC2ENSG00000109220ENST00000263921p.E120Vc.359A>TSubstitution - Missense
C4orf50ENSG00000181215ENST00000324058p.L189Lc.567G>ASubstitution - coding silent
ITGB8ENSG00000105855ENST00000222573p.S190Lc.569C>TSubstitution - Missense
PRAMEENSG00000185686ENST00000398741p.V179Ic.535G>ASubstitution - Missense
SGSM1ENSG00000167037ENST00000400359p.E818Kc.2452G>ASubstitution - Missense
PXDNENSG00000130508ENST00000252804p.H689_V690delHVc.2067_2072delTGTACADeletion - In frame
XIRP2ENSG00000163092ENST00000409728p.P3Pc.9A>GSubstitution - coding silent
NSMCE2ENSG00000156831ENST00000287437p.Q112Hc.336G>TSubstitution - Missense
TGENSG00000042832ENST00000220616p.A983Ac.2949G>ASubstitution - coding silent
RABEPKENSG00000136933ENST00000373538p.V103fs*17c.305delGDeletion - Frameshift
RABEPKENSG00000136933ENST00000416065p.V186fs*17c.554delGDeletion - Frameshift
GOLGA2ENSG00000167110ENST00000421699p.S228Lc.683C>TSubstitution - Missense
GOLGA2ENSG00000167110ENST00000421699p.L296Lc.888C>GSubstitution - coding silent
RXFP1ENSG00000171509ENST00000307765p.N281Nc.843C>TSubstitution - coding silent
DDX60ENSG00000137628ENST00000393743p.K791Ec.2371A>GSubstitution - Missense
DDX60ENSG00000137628ENST00000393743p.K791Ec.2371A>GSubstitution - Missense
FGFR3ENSG00000068078ENST00000340107p.L647Lc.1941C>GSubstitution - coding silent
FGFR3ENSG00000068078ENST00000440486p.L645Lc.1935C>GSubstitution - coding silent
NEIL3ENSG00000109674ENST00000264596p.G75Gc.225C>TSubstitution - coding silent
NM_018248.1p.G75Gc.225C>TSubstitution - coding silent
AHRRENSG00000063438ENST00000316418p.R491Qc.1472G>ASubstitution - Missense
C5orf55ENSG00000221990ENST00000408966p.E26Kc.76G>ASubstitution - Missense
DHX29ENSG00000067248ENST00000251636p.H455Yc.1363C>TSubstitution - Missense
VARSENSG00000204394ENST00000375663p.G648Gc.1944A>GSubstitution - coding silent
HLA-DQB1ENSG00000179344ENST00000399084p.T53Tc.159G>CSubstitution - coding silent
TCTE1ENSG00000146221ENST00000371505p.N186Dc.556A>GSubstitution - Missense
ANKMY1ENSG00000144504ENST00000405523p.G271Sc.811G>ASubstitution - Missense
TP63ENSG00000073282ENST00000354600p.S60Fc.179C>TSubstitution - Missense
LAMB4ENSG00000091128ENST00000388780p.R137Qc.410G>ASubstitution - Missense
AFAP1L2ENSG00000169129ENST00000545353p.R701Hc.2102G>ASubstitution - Missense
ENST00000325103_v70p.Q150Qc.450G>ASubstitution - coding silent
C10orf128ENSG00000204161ENST00000374151p.P83Pc.249G>ASubstitution - coding silent
RASSF4ENSG00000107551ENST00000334940p.I35Tc.104T>CSubstitution - Missense
FAM35AENSG00000122376ENST00000298786p.S733Lc.2198C>TSubstitution - Missense
ZCCHC24ENSG00000165424ENST00000372333p.R50*c.148C>TSubstitution - Nonsense
ALKBH8ENSG00000137760ENST00000429370p.R95Tc.284G>CSubstitution - Missense
GUCY1A2ENSG00000152402ENST00000282249p.V387Vc.1161G>ASubstitution - coding silent
CRTAC1ENSG00000095713ENST00000370591p.S254Lc.761C>TSubstitution - Missense
EML3ENSG00000149499ENST00000529309p.V81Vc.243G>TSubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.E2827*c.8479G>TSubstitution - Nonsense
ITGA7ENSG00000135424ENST00000452168p.R558Rc.1674C>TSubstitution - coding silent
ITGA7ENSG00000135424ENST00000257880p.R695Rc.2085C>TSubstitution - coding silent
KLENSG00000133116ENST00000426690p.F64Ic.190T>ASubstitution - Missense
ERAP1ENSG00000164307ENST00000296754p.?c.1453-9G>AUnknown
SPATA9ENSG00000145757ENST00000274432p.Q25Qc.75G>ASubstitution - coding silent
RFESDENSG00000175449ENST00000458310p.R92Tc.275G>CSubstitution - Missense
FAM133AENSG00000179083ENST00000538690p.S87Lc.260C>TSubstitution - Missense
CHMENSG00000188419ENST00000357749p.I419Vc.1255A>GSubstitution - Missense
SIM1ENSG00000112246ENST00000262901p.Q753Rc.2258A>GSubstitution - Missense
CDH7ENSG00000081138ENST00000323011p.L605Lc.1815C>TSubstitution - coding silent
CNDP1ENSG00000150656ENST00000358821p.E60Kc.178G>ASubstitution - Missense
NETO1ENSG00000166342ENST00000397929p.L81Rc.242T>GSubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.D1557Dc.4671T>CSubstitution - coding silent
SOGA2ENSG00000168502ENST00000359865p.S44Rc.132C>GSubstitution - Missense
PQLC1ENSG00000122490ENST00000397778p.R99Cc.295C>TSubstitution - Missense
MYH9ENSG00000100345ENST00000216181p.A1720Sc.5158G>TSubstitution - Missense
ICAM4ENSG00000105371ENST00000340992p.R191Qc.572G>ASubstitution - Missense
DSTENSG00000151914ENST00000370769p.E4310Kc.12928G>ASubstitution - Missense
DEFB135ENSG00000205883ENST00000382208p.S36Lc.107C>TSubstitution - Missense
ENST00000409686p.E196Ec.588G>ASubstitution - coding silent
C8orf76ENSG00000189376ENST00000276704p.S187Sc.561A>GSubstitution - coding silent
USP17L2ENSG00000223443ENST00000333796p.S337Sc.1011T>CSubstitution - coding silent
RSPO3ENSG00000146374ENST00000356698p.R177Pc.530G>CSubstitution - Missense
RSPO3ENSG00000146374ENST00000368317p.R177Pc.530G>CSubstitution - Missense
TBC1D32ENSG00000146350ENST00000398212p.L440Lc.1318T>CSubstitution - coding silent
EDN1ENSG00000078401ENST00000379375p.G36Rc.106G>ASubstitution - Missense
TAAR6ENSG00000146383ENST00000275198p.S164Sc.492C>TSubstitution - coding silent
ENST00000275189p.M476Ic.1428G>ASubstitution - Missense
BCLAF1ENSG00000029363ENST00000531224p.K912fs*>9c.2733delGDeletion - Frameshift
RHOT1ENSG00000126858ENST00000358365p.V46Vc.138C>TSubstitution - coding silent
MMS22LENSG00000146263ENST00000275053p.L271Lc.813C>GSubstitution - coding silent
FBXO11ENSG00000138081ENST00000403359p.?c.1616+10T>CUnknown
FBXO11ENSG00000138081ENST00000402508p.?c.1364+10T>CUnknown
MSH2ENSG00000095002ENST00000233146p.A272Ac.816G>ASubstitution - coding silent
ENST00000344380p.P40Lc.119C>TSubstitution - Missense
ZZEF1ENSG00000074755ENST00000381638p.L1453Fc.4357C>TSubstitution - Missense
G6PCENSG00000131482ENST00000253801p.H176Yc.526C>TSubstitution - Missense
ANKFN1ENSG00000153930ENST00000318698p.M150Vc.448A>GSubstitution - Missense
DHX40ENSG00000108406ENST00000251241p.K61Nc.183G>TSubstitution - Missense
DHX40ENSG00000108406ENST00000251241p.D137Vc.410A>TSubstitution - Missense
C19orf55ENSG00000167595ENST00000396908p.?c.440-3C>TUnknown
ENSG00000272333ENST00000222270p.P2086Pc.6258T>GSubstitution - coding silent
TJP3ENSG00000105289ENST00000262968p.E788*c.2362G>TSubstitution - Nonsense
ZBBXENSG00000169064ENST00000392766p.S619Tc.1855T>ASubstitution - Missense
SARS2ENSG00000104835ENST00000221431p.E69Qc.205G>CSubstitution - Missense
ACTN4ENSG00000130402ENST00000252699p.E561Kc.1681G>ASubstitution - Missense
CYP2A13ENSG00000197838ENST00000330436p.T134_L135insTc.397_398insCCAInsertion - In frame
SDK1ENSG00000146555ENST00000404826p.T357Tc.1071C>TSubstitution - coding silent
BBS9ENSG00000122507ENST00000242067p.R656Wc.1966C>TSubstitution - Missense
POLMENSG00000122678ENST00000242248p.R266Qc.797G>ASubstitution - Missense
AEBP1ENSG00000106624ENST00000223357p.I817Fc.2449A>TSubstitution - Missense
MAGEC3ENSG00000165509ENST00000544766p.P291Pc.873C>GSubstitution - coding silent
CD40LGENSG00000102245ENST00000370629p.A13Vc.38C>TSubstitution - Missense
FANCBENSG00000181544ENST00000324138p.M290Tc.869T>CSubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.S374Yc.1121C>ASubstitution - Missense
ATP2B3ENSG00000067842ENST00000349466p.M925Ic.2775G>TSubstitution - Missense
ATP2B3ENSG00000067842ENST00000263519p.M925Ic.2775G>TSubstitution - Missense
ATP2B3ENSG00000067842ENST00000370186p.M911Ic.2733G>TSubstitution - Missense
SPATA24ENSG00000170469ENST00000302091p.E45Kc.133G>ASubstitution - Missense
ENST00000274705p.P486Lc.1457C>TSubstitution - Missense
TENM2ENSG00000145934ENST00000518659p.H263Yc.787C>TSubstitution - Missense
TENM2ENSG00000145934ENST00000519204p.H142Yc.424C>TSubstitution - Missense
ENST00000388903p.H96Yc.286C>TSubstitution - Missense
HIST1H3IENSG00000182572ENST00000328488p.K28Mc.83A>TSubstitution - Missense
HIST1H2BNENSG00000233822ENST00000449538p.I74Ic.222C>TSubstitution - coding silent
ENST00000539307p.A33Sc.97G>TSubstitution - Missense
SRPK2ENSG00000135250ENST00000357311p.V252Vc.756G>ASubstitution - coding silent
CACNA2D1ENSG00000153956ENST00000356860p.Y607*c.1821C>ASubstitution - Nonsense
MPP1ENSG00000130830ENST00000369534p.A136Vc.407C>TSubstitution - Missense
PTCHD1ENSG00000165186ENST00000379361p.T89Ic.266C>TSubstitution - Missense
ENST00000381114p.L874Pc.2621T>CSubstitution - Missense
ENST00000381114p.L874Pc.2621T>CSubstitution - Missense
FTHL17ENSG00000132446ENST00000359202p.G78Sc.232G>ASubstitution - Missense
FTHL17ENSG00000132446ENST00000359202p.G78Sc.232G>ASubstitution - Missense
DPP10ENSG00000175497ENST00000410059p.?c.264_271+985del993Unknown
DPP10ENSG00000175497ENST00000310323p.?c.243_250+985del993Unknown
CKAP2LENSG00000169607ENST00000302450p.R327Tc.980G>CSubstitution - Missense
NEU2ENSG00000115488ENST00000233840p.P268Pc.804G>ASubstitution - coding silent
KLHL30ENSG00000168427ENST00000409223p.A111Vc.332C>TSubstitution - Missense
RELENSG00000162924ENST00000295025p.L320Lc.960T>CSubstitution - coding silent
CCT4ENSG00000115484ENST00000394440p.H129Yc.385C>TSubstitution - Missense
ALDH1L1ENSG00000144908ENST00000393434p.G101Dc.302G>ASubstitution - Missense
SLC12A8ENSG00000221955ENST00000393469p.I608Mc.1824C>GSubstitution - Missense
TCF20ENSG00000100207ENST00000359486p.L1860Lc.5580C>TSubstitution - coding silent
SBF1ENSG00000100241ENST00000390679p.?c.1332+2T>CUnknown
ZDHHC3ENSG00000163812ENST00000296127p.L187Lc.561C>TSubstitution - coding silent
KIF15ENSG00000163808ENST00000326047p.S269Cc.806C>GSubstitution - Missense
SETD2ENSG00000181555ENST00000409792p.R2075Sc.6225G>CSubstitution - Missense
BDP1ENSG00000145734ENST00000358731p.S1674Lc.5021C>TSubstitution - Missense
MAST4ENSG00000069020ENST00000403625p.R1638Wc.4912C>TSubstitution - Missense
MAST4ENSG00000069020ENST00000405643p.R1459Wc.4375C>TSubstitution - Missense
NSUN2ENSG00000037474ENST00000264670p.E60Qc.178G>CSubstitution - Missense
UBR2ENSG00000024048ENST00000372899p.?c.4387+1G>TUnknown
GIGYF1ENSG00000146830ENST00000275732p.R122Qc.365G>ASubstitution - Missense
KLC4ENSG00000137171ENST00000259708p.L587Lc.1761G>ASubstitution - coding silent
KLC4ENSG00000137171ENST00000394056p.L569Lc.1707G>ASubstitution - coding silent
AUTS2ENSG00000158321ENST00000342771p.H1133_P1134insHHc.3400_3401insACCACCInsertion - In frame
CCZ1BENSG00000146574ENST00000316731p.I122Vc.364A>GSubstitution - Missense
RFC2ENSG00000049541ENST00000055077p.L93Lc.279G>CSubstitution - coding silent
ENST00000419043p.F334Fc.1002C>TSubstitution - coding silent
SSNA1ENSG00000176101ENST00000322310p.E70Qc.208G>CSubstitution - Missense
SMARCA2ENSG00000080503ENST00000349721p.D634Nc.1900G>ASubstitution - Missense
UBQLN2ENSG00000188021ENST00000338222p.G529Sc.1585G>ASubstitution - Missense
ERCC6LENSG00000186871ENST00000334463p.R327Rc.981G>ASubstitution - coding silent
TAF1ENSG00000147133ENST00000373790p.E1551Ec.4653G>ASubstitution - coding silent
ZCCHC5ENSG00000179300ENST00000321110p.D146Dc.438T>CSubstitution - coding silent
ARRDC2ENSG00000105643ENST00000222250p.L47Lc.141G>ASubstitution - coding silent
ARMC6ENSG00000105676ENST00000269932p.I329Ic.987C>TSubstitution - coding silent
TMEM59LENSG00000105696ENST00000262817p.?c.665-5C>GUnknown
PRRT2ENSG00000167371ENST00000358758p.D191Yc.571G>TSubstitution - Missense
ATXN2LENSG00000168488ENST00000395547p.Q793Ec.2377C>GSubstitution - Missense
ATXN2LENSG00000168488ENST00000336783p.Q793Ec.2377C>GSubstitution - Missense
THOC6ENSG00000131652ENST00000326266p.L317Lc.951G>ASubstitution - coding silent
SRCAPENSG00000080603ENST00000262518p.H9Yc.25C>TSubstitution - Missense
CCNT2ENSG00000082258ENST00000264157p.Q432Pc.1295A>CSubstitution - Missense
CCNT2ENSG00000082258ENST00000264157p.S583Sc.1749C>TSubstitution - coding silent
GRAMD1CENSG00000178075ENST00000358160p.S444Lc.1331C>TSubstitution - Missense
KIAA2018ENSG00000176542ENST00000316407p.E1417Kc.4249G>ASubstitution - Missense
CD200R1ENSG00000163606ENST00000308611p.?c.699_1047del5210Unknown
HCLS1ENSG00000180353ENST00000314583p.N376Tc.1127A>CSubstitution - Missense
HCLS1ENSG00000180353ENST00000314583p.N376Hc.1126A>CSubstitution - Missense
GYPAENSG00000170180ENST00000360771p.?c.137-1G>CUnknown
FBXW7ENSG00000109670ENST00000296555p.R361Gc.1081C>GSubstitution - Missense
ACSL1ENSG00000151726ENST00000281455p.Y93Yc.279C>TSubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.S1779*c.5336C>ASubstitution - Nonsense
FAT1ENSG00000083857ENST00000441802p.S1664Fc.4991C>TSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.S1664Fc.4991C>TSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.L2449Vc.7345C>GSubstitution - Missense
SLC12A2ENSG00000064651ENST00000262461p.?c.3101-3C>GUnknown
RAD50ENSG00000113522ENST00000265335p.E1284Qc.3850G>CSubstitution - Missense
LIX1ENSG00000145721ENST00000274382p.A235Vc.704C>TSubstitution - Missense
HOXD10ENSG00000128710ENST00000249501p.M201delMc.600_602delGATDeletion - In frame
NM_003319p.S21248*c.63743C>GSubstitution - Nonsense
DNAH7ENSG00000118997ENST00000312428p.I3766Mc.11298C>GSubstitution - Missense
SF3B1ENSG00000115524ENST00000335508p.P987Pc.2961T>ASubstitution - coding silent
ALS2CR11ENSG00000155754ENST00000439140p.T1398Mc.4193C>TSubstitution - Missense
FAM126BENSG00000155744ENST00000418596p.E51Qc.151G>CSubstitution - Missense
ANKMY1ENSG00000144504ENST00000361678p.G271Sc.811G>ASubstitution - Missense
ASXL2ENSG00000143970ENST00000272341p.D648Nc.1942G>ASubstitution - Missense
KIF3CENSG00000084731ENST00000264712p.L652Pc.1955T>CSubstitution - Missense
ABI3BPENSG00000154175ENST00000284322p.T663Nc.1988C>ASubstitution - Missense
ABI3BPENSG00000154175ENST00000383691p.T616Nc.1847C>ASubstitution - Missense
ZNF213ENSG00000085644ENST00000574902p.P316Lc.947C>TSubstitution - Missense
ITGAXENSG00000140678ENST00000268296p.A460Vc.1379C>TSubstitution - Missense
C16orf96ENSG00000205832ENST00000444310p.A110Pc.328G>CSubstitution - Missense
C16orf96ENSG00000205832ENST00000444310p.S47Lc.140C>TSubstitution - Missense
ANKRD11ENSG00000167522ENST00000301030p.P1144Lc.3431C>TSubstitution - Missense
MYH3ENSG00000109063ENST00000226209p.E936Qc.2806G>CSubstitution - Missense
MYH1ENSG00000109061ENST00000226207p.F648Lc.1944C>GSubstitution - Missense
SHISA6ENSG00000188803ENST00000432116p.T261Mc.782C>TSubstitution - Missense
LAMA5ENSG00000130702ENST00000252999p.R3384Gc.10150C>GSubstitution - Missense
COL9A3ENSG00000092758ENST00000343916p.?c.1548+7C>TUnknown
PATZ1ENSG00000100105ENST00000215919p.K141Rc.422A>GSubstitution - Missense
ISXENSG00000175329ENST00000308700p.H95Hc.285T>CSubstitution - coding silent
SU_NEK10p.F868Vc.2602T>GSubstitution - Missense
NEK10ENSG00000163491ENST00000357467p.F265Vc.793T>GSubstitution - Missense
CMSS1ENSG00000184220ENST00000421999p.I161Mc.483C>GSubstitution - Missense
SEC24BENSG00000138802ENST00000265175p.E904Kc.2710G>ASubstitution - Missense
LEF1ENSG00000138795ENST00000379951p.A76Ac.228A>GSubstitution - coding silent
LEF1ENSG00000138795ENST00000510624p.A8Ac.24A>GSubstitution - coding silent
ERLIN2ENSG00000147475ENST00000276461p.F117Fc.351C>TSubstitution - coding silent
WRNENSG00000165392ENST00000298139p.T781Ic.2342C>TSubstitution - Missense
ADAM9ENSG00000168615ENST00000487273p.C505Cc.1515C>TSubstitution - coding silent
KAT6AENSG00000083168ENST00000265713p.L185Vc.553C>GSubstitution - Missense
MAOAENSG00000189221ENST00000338702p.G420Ec.1259G>ASubstitution - Missense
PPP1R3FENSG00000049769ENST00000055335p.G645Ec.1934G>ASubstitution - Missense
NM_007137.1p.S59Lc.176C>TSubstitution - Missense
USP29ENSG00000131864ENST00000254181p.L395Lc.1185G>ASubstitution - coding silent
PEG3ENSG00000198300ENST00000423103p.E931Qc.2791G>CSubstitution - Missense
ZNF805ENSG00000204524ENST00000414468p.A407Ac.1221T>GSubstitution - coding silent
ZNF274ENSG00000171606ENST00000326804p.Q637Qc.1911G>ASubstitution - coding silent
ABCA8ENSG00000141338ENST00000269080p.R1178Pc.3533G>CSubstitution - Missense
ODC1ENSG00000115758ENST00000234111p.Y317Yc.951T>CSubstitution - coding silent
TRIM71ENSG00000206557ENST00000383763p.G520Ec.1559G>ASubstitution - Missense
CNTN4ENSG00000144619ENST00000418658p.G151Ec.452G>ASubstitution - Missense
TSSK1BENSG00000212122ENST00000390666p.P280Tc.838C>ASubstitution - Missense
TSSK1BENSG00000212122ENST00000390666p.P280Tc.838C>ASubstitution - Missense
ZNF319ENSG00000166188ENST00000299237p.A86Ac.258G>ASubstitution - coding silent
TSNAXIP1ENSG00000102904ENST00000388833p.*659fs?c.1977delGDeletion - Frameshift
KCTD19ENSG00000168676ENST00000304372p.T786Mc.2357C>TSubstitution - Missense
ESRP2ENSG00000103067ENST00000473183p.E233Kc.697G>ASubstitution - Missense
ALMS1ENSG00000116127ENST00000264448p.S146Cc.437C>GSubstitution - Missense
TM4SF4ENSG00000169903ENST00000305354p.M171Lc.511A>CSubstitution - Missense
PRDM5ENSG00000138738ENST00000264808p.E549Kc.1645G>ASubstitution - Missense
LARP1BENSG00000138709ENST00000427266p.E410Qc.1228G>CSubstitution - Missense
CDH9ENSG00000113100ENST00000231021p.?c.644-5A>TUnknown
CDH10ENSG00000040731ENST00000264463p.P223Lc.668C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.S6619Fc.19856C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.S6548Fc.19643C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.M6849Ic.20547G>CSubstitution - Missense
TIAM2ENSG00000146426ENST00000318981p.T969Tc.2907T>CSubstitution - coding silent
ENST00000367213p.S478Cc.1433C>GSubstitution - Missense
C6orf99ENSG00000203711ENST00000367072p.P8Pc.24G>CSubstitution - coding silent
IGF2BP3ENSG00000136231ENST00000258729p.S416*c.1247C>GSubstitution - Nonsense
AF083811.1p.?c.151-3C>TUnknown
CNBD1ENSG00000176571ENST00000518476p.E240Kc.718G>ASubstitution - Missense
PSKH2ENSG00000147613ENST00000276616p.A104Ac.312G>ASubstitution - coding silent
UQCRBENSG00000156467ENST00000287022p.R62Lc.185G>TSubstitution - Missense
CHD3ENSG00000170004ENST00000330494p.R1187Hc.3560G>ASubstitution - Missense
C17orf70ENSG00000185504ENST00000327787p.L794Lc.2380C>TSubstitution - coding silent
KIAA1328ENSG00000150477ENST00000280020p.S34Fc.101C>TSubstitution - Missense
CDC37ENSG00000105401ENST00000222005p.E141Qc.421G>CSubstitution - Missense
XM_290867.2p.S11Gc.31A>GSubstitution - Missense
C19orf38ENSG00000214212ENST00000397820p.R148Kc.443G>ASubstitution - Missense
ZNF844ENSG00000223547ENST00000439326p.E278*c.832G>TSubstitution - Nonsense
TMPRSS3ENSG00000160183ENST00000380399p.A73Pc.217G>CSubstitution - Missense
ENST00000380014p.G193fs*>90c.573_574insCInsertion - Frameshift
PCBP3ENSG00000183570ENST00000400314p.S181Sc.543G>CSubstitution - coding silent
KIDINS220ENSG00000134313ENST00000256707p.G1627Ec.4880G>ASubstitution - Missense
GGCXENSG00000115486ENST00000233838p.Q568Qc.1704G>ASubstitution - coding silent
GPAT2ENSG00000186281ENST00000359548p.?c.1238+4G>AUnknown
ABCC12ENSG00000140798ENST00000311303p.?c.1712+1G>AUnknown
MMP2ENSG00000087245ENST00000219070p.G626Gc.1878C>TSubstitution - coding silent
NUDT21ENSG00000167005ENST00000300291p.I85Ic.255T>CSubstitution - coding silent
GSDMAENSG00000167914ENST00000301659p.?c.1022-2A>GUnknown
KRTAP4-6ENSG00000198090ENST00000345847p.R106Rc.318T>CSubstitution - coding silent
KRT10ENSG00000186395ENST00000269576p.S405Lc.1214C>TSubstitution - Missense
ADAMTS5ENSG00000154736ENST00000284987p.S888Sc.2664T>GSubstitution - coding silent
KRT31ENSG00000094796ENST00000251645p.N81Nc.243C>TSubstitution - coding silent
KRT31ENSG00000094796ENST00000251645p.N81Nc.243C>TSubstitution - coding silent
CRYZL1ENSG00000205758ENST00000381554p.E13Kc.37G>ASubstitution - Missense
SONENSG00000159140ENST00000300278p.M1167Vc.3499A>GSubstitution - Missense
ATP10DENSG00000145246ENST00000273859p.E412Gc.1235A>GSubstitution - Missense
FRYLENSG00000075539ENST00000503238p.E541Kc.1621G>ASubstitution - Missense
CAMKVENSG00000164076ENST00000477224p.G349Rc.1045G>ASubstitution - Missense
CAMKVENSG00000164076ENST00000477224p.G349Rc.1045G>ASubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.I2012Ic.6036C>TSubstitution - coding silent
ENST00000273600p.I2012Ic.6036C>TSubstitution - coding silent
DNAH1ENSG00000114841ENST00000420323p.I2160Ic.6480C>TSubstitution - coding silent
MLLT4ENSG00000130396ENST00000392108p.G366Ec.1097G>ASubstitution - Missense
MLLT4ENSG00000130396ENST00000366806p.G366Ec.1097G>ASubstitution - Missense
KIF13AENSG00000137177ENST00000378814p.L309Fc.925C>TSubstitution - Missense
KIF13AENSG00000137177ENST00000259711p.?c.146+2T>GUnknown
CNOT4ENSG00000080802ENST00000315544p.Q242*c.724C>TSubstitution - Nonsense
ENST00000262563p.Q242*c.724C>TSubstitution - Nonsense
AKAP9ENSG00000127914ENST00000356239p.F3019Lc.9057C>GSubstitution - Missense
AKAP9ENSG00000127914ENST00000356239p.K1542Kc.4626G>ASubstitution - coding silent
NM_147171.1p.K1554Kc.4662G>ASubstitution - coding silent
ZC3H3ENSG00000014164ENST00000262577p.A88Ac.264C>TSubstitution - coding silent
GLI4ENSG00000250571ENST00000340042p.N195Nc.585C>TSubstitution - coding silent
ARPC1AENSG00000241685ENST00000262942p.K36Nc.108G>TSubstitution - Missense
DGAT1ENSG00000185000ENST00000332324p.?c.856-9C>TUnknown
PSD3ENSG00000156011ENST00000327040p.L84Vc.250C>GSubstitution - Missense
MSR1ENSG00000038945ENST00000262101p.Q167*c.499C>TSubstitution - Nonsense
MSR1ENSG00000038945ENST00000381998p.Q167*c.499C>TSubstitution - Nonsense
LOXHD1ENSG00000167210ENST00000536736p.I473Ic.1419C>TSubstitution - coding silent
EPB41L3ENSG00000082397ENST00000341928p.A866Ac.2598G>ASubstitution - coding silent
ARHGEF15ENSG00000198844ENST00000361926p.G603Gc.1809G>CSubstitution - coding silent
CEP192ENSG00000101639ENST00000506447p.?c.7476-3C>TUnknown
CEP192ENSG00000101639ENST00000325971p.?c.5688-3C>TUnknown
KIR2DL4ENSG00000189013ENST00000345540p.R96Kc.287G>ASubstitution - Missense
KIR2DL4ENSG00000189013ENST00000396284p.R94Kc.281G>ASubstitution - Missense
RBBP8ENSG00000101773ENST00000327155p.G9Ec.26G>ASubstitution - Missense
RBBP8ENSG00000101773ENST00000399725p.G9Ec.26G>ASubstitution - Missense
CECR2ENSG00000099954ENST00000262608p.F727Fc.2181T>CSubstitution - coding silent
CECR2ENSG00000099954ENST00000400585p.F726Fc.2178T>CSubstitution - coding silent
ITGA6ENSG00000091409ENST00000409080p.E1063Ec.3189G>ASubstitution - coding silent
TRMT2AENSG00000099899ENST00000404751p.E465Kc.1393G>ASubstitution - Missense
ARVCFENSG00000099889ENST00000263207p.D99Nc.295G>ASubstitution - Missense
SPEF2ENSG00000152582ENST00000356031p.?c.2038-5C>TUnknown
SDR42E1ENSG00000184860ENST00000328945p.S392Sc.1176A>GSubstitution - coding silent
NPEPPSENSG00000141279ENST00000322157p.E881Qc.2641G>CSubstitution - Missense
MINK1ENSG00000141503ENST00000355280p.?c.3230-9G>AUnknown
NGFRENSG00000064300ENST00000172229p.E51Kc.151G>ASubstitution - Missense
TTLL6ENSG00000170703ENST00000433608p.L335Vc.1003C>GSubstitution - Missense
ENST00000305326p.L320Vc.958C>GSubstitution - Missense
TTLL6ENSG00000170703ENST00000393382p.L594Vc.1780C>GSubstitution - Missense
NFE2L1ENSG00000082641ENST00000362042p.I42Ic.126C>TSubstitution - coding silent
NM_032133.2p.L854Lc.2562C>TSubstitution - coding silent
FSIP2ENSG00000188738ENST00000343098p.D1364Nc.4090G>ASubstitution - Missense
NRP2ENSG00000118257ENST00000360409p.C175Cc.525C>TSubstitution - coding silent
MOSENSG00000172680ENST00000311923p.D213Hc.637G>CSubstitution - Missense
CUL4BENSG00000158290ENST00000404115p.?c.1992+7G>AUnknown
NM_003069.2p.S679Fc.2036C>TSubstitution - Missense
CXorf64ENSG00000183631ENST00000371125p.G154Ac.461G>CSubstitution - Missense
ATXN3LENSG00000123594ENST00000380622p.L137Fc.411G>CSubstitution - Missense
INSRENSG00000171105ENST00000302850p.T858Ac.2572A>GSubstitution - Missense
INSRENSG00000171105ENST00000302850p.T858Ac.2572A>GSubstitution - Missense
INSRENSG00000171105ENST00000302850p.L96Lc.288C>TSubstitution - coding silent
TUBB4AENSG00000104833ENST00000264071p.M321Ic.963G>CSubstitution - Missense
STXBP2ENSG00000076944ENST00000221283p.R533Rc.1599G>ASubstitution - coding silent
FAM120AENSG00000048828ENST00000375389p.F173Lc.519C>ASubstitution - Missense
PTCH1ENSG00000185920ENST00000331920p.G37Rc.109G>CSubstitution - Missense
FANCCENSG00000158169ENST00000289081p.R532Kc.1595G>ASubstitution - Missense
RNF128ENSG00000133135ENST00000255499p.G109Ec.326G>ASubstitution - Missense
OTTHUMT00000057774.1p.F20Fc.60C>TSubstitution - coding silent
ELAC2ENSG00000006744ENST00000338034p.F316Fc.948C>TSubstitution - coding silent
TTC19ENSG00000011295ENST00000261647p.D417Hc.1249G>CSubstitution - Missense
TRIM16ENSG00000221926ENST00000578237p.R271Tc.812G>CSubstitution - Missense
DNAH2ENSG00000183914ENST00000389173p.?c.5247+7G>AUnknown
DNAH2ENSG00000183914ENST00000389173p.Q1369Ec.4105C>GSubstitution - Missense
ZNF729ENSG00000196350ENST00000357491p.A608Pc.1822G>CSubstitution - Missense
ZNF536ENSG00000198597ENST00000355537p.P481Pc.1443G>ASubstitution - coding silent
THOP1ENSG00000172009ENST00000307741p.F598Lc.1794C>ASubstitution - Missense
ZNF681ENSG00000196172ENST00000402377p.K308Rc.923A>GSubstitution - Missense
ZNF507ENSG00000168813ENST00000355898p.S556Sc.1668T>CSubstitution - coding silent
KCNA7ENSG00000104848ENST00000221444p.E406Kc.1216G>ASubstitution - Missense
PNKPENSG00000039650ENST00000322344p.M479Lc.1435A>CSubstitution - Missense
TSKSENSG00000126467ENST00000246801p.C555Wc.1665C>GSubstitution - Missense
SCAF1ENSG00000126461ENST00000360565p.D340Gc.1019A>GSubstitution - Missense
KDM4BENSG00000127663ENST00000159111p.?c.2737-6T>CUnknown
ENST00000374477p.S139Fc.416C>TSubstitution - Missense
NCOA6ENSG00000198646ENST00000374796p.W91Rc.271T>CSubstitution - Missense
KCNB1ENSG00000158445ENST00000371741p.T742Rc.2225C>GSubstitution - Missense
TSHZ2ENSG00000182463ENST00000371497p.K773Nc.2319G>TSubstitution - Missense
NFATC2ENSG00000101096ENST00000396009p.P347Pc.1041G>ASubstitution - coding silent
ZNF831ENSG00000124203ENST00000371030p.P50Sc.148C>TSubstitution - Missense
RAB22AENSG00000124209ENST00000244040p.E91Dc.273G>CSubstitution - Missense
AASSENSG00000008311ENST00000393376p.M210Ic.630G>ASubstitution - Missense
LRRN4ENSG00000125872ENST00000378858p.E537Ec.1611G>ASubstitution - coding silent
TAS2R16ENSG00000128519ENST00000249284p.F102Lc.306C>GSubstitution - Missense
PODXLENSG00000128567ENST00000378555p.S31_Q32insPSc.64_65insCGTCGCInsertion - In frame
CPA2ENSG00000158516ENST00000222481p.I206Vc.616A>GSubstitution - Missense
AHCYL2ENSG00000158467ENST00000325006p.L490Vc.1468C>GSubstitution - Missense
NFX1ENSG00000086102ENST00000379540p.G751Gc.2253T>CSubstitution - coding silent
TAF1LENSG00000122728ENST00000242310p.H1815Rc.5444A>GSubstitution - Missense
KANK1ENSG00000107104ENST00000382303p.I284Ic.852C>ASubstitution - coding silent
ENST00000354485p.I284Ic.852C>ASubstitution - coding silent
KANK1ENSG00000107104ENST00000382303p.S292Yc.875C>ASubstitution - Missense
ENST00000354485p.S292Yc.875C>ASubstitution - Missense
KANK1ENSG00000107104ENST00000382303p.A1207Tc.3619G>ASubstitution - Missense
KANK1ENSG00000107104ENST00000382293p.A1049Tc.3145G>ASubstitution - Missense
KANK1ENSG00000107104ENST00000382286p.A119Tc.355G>ASubstitution - Missense
ENST00000399147_v68p.E351Kc.1051G>ASubstitution - Missense
ANK3ENSG00000151150ENST00000355288p.S752Cc.2255C>GSubstitution - Missense
CDCA5ENSG00000146670ENST00000275517p.P46Pc.138G>CSubstitution - coding silent
PYGMENSG00000068976ENST00000164139p.M680Ic.2040G>CSubstitution - Missense
ENST00000359762p.V125Vc.375G>CSubstitution - coding silent
VPS51ENSG00000149823ENST00000279281p.E548Ec.1644A>GSubstitution - coding silent
CGP_EPHA10.1p.P522Lc.1565C>TSubstitution - Missense
SF3B2ENSG00000087365ENST00000322535p.?c.874+3G>AUnknown
RLFENSG00000117000ENST00000372771p.S904Yc.2711C>ASubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.E3895Kc.11683G>ASubstitution - Missense
MACF1ENSG00000127603ENST00000361689p.E3393Kc.10177G>ASubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.E3908Kc.11722G>ASubstitution - Missense
MACF1ENSG00000127603ENST00000361689p.E3406Kc.10216G>ASubstitution - Missense
IQCDENSG00000166578ENST00000299732p.K231Ec.691A>GSubstitution - Missense
HECTD3ENSG00000126107ENST00000372172p.E245Qc.733G>CSubstitution - Missense
SRRM4ENSG00000139767ENST00000267260p.R485Rc.1455G>ASubstitution - coding silent
SRRM4ENSG00000139767ENST00000267260p.R582Rc.1746G>ASubstitution - coding silent
SIKE1ENSG00000052723ENST00000060969p.?c.408+2_409del2682Unknown
NOTCH2ENSG00000134250ENST00000256646p.D1843Hc.5527G>CSubstitution - Missense
ZNF687ENSG00000143373ENST00000324048p.R534Hc.1601G>ASubstitution - Missense
JMJD7-PLA2G4BENSG00000168970ENST00000382448p.N637Nc.1911C>TSubstitution - coding silent
TBX19ENSG00000143178ENST00000367821p.S305*c.914C>GSubstitution - Nonsense
XCL1ENSG00000143184ENST00000367818p.T37Tc.111C>GSubstitution - coding silent
SLC12A1ENSG00000074803ENST00000396577p.D802Nc.2404G>ASubstitution - Missense
SLC12A1ENSG00000074803ENST00000380993p.D802Nc.2404G>ASubstitution - Missense
SLC5A9ENSG00000117834ENST00000236495p.F150Fc.450C>TSubstitution - coding silent
RAD54LENSG00000085999ENST00000442598p.T546Tc.1638G>ASubstitution - coding silent
TXNDC12ENSG00000117862ENST00000371626p.G26Rc.76G>ASubstitution - Missense
OSBPL9ENSG00000117859ENST00000371710p.S64Cc.191C>GSubstitution - Missense
AKAP6ENSG00000151320ENST00000280979p.Q2089Ec.6265C>GSubstitution - Missense
NM_025152.1p.?c.292+5G>TUnknown
HECTD1ENSG00000092148ENST00000399332p.Q1992Qc.5976G>ASubstitution - coding silent
TTC6ENSG00000139865ENST00000553443p.L1692Fc.5074C>TSubstitution - Missense
SETD3ENSG00000183576ENST00000331768p.E118*c.352G>TSubstitution - Nonsense
PKP2ENSG00000057294ENST00000070846p.L319Lc.957G>ASubstitution - coding silent
PBXIP1ENSG00000163346ENST00000368463p.D350Nc.1048G>ASubstitution - Missense
ASH1LENSG00000116539ENST00000392403p.D2614Nc.7840G>ASubstitution - Missense
CACNA1SENSG00000081248ENST00000362061p.N269Dc.805A>GSubstitution - Missense
TMCC2ENSG00000133069ENST00000358024p.D251Nc.751G>ASubstitution - Missense
CYP19A1ENSG00000137869ENST00000396402p.C275Rc.823T>CSubstitution - Missense
EID1ENSG00000255302ENST00000530028p.E152Kc.454G>ASubstitution - Missense
RNF111ENSG00000157450ENST00000348370p.P486Tc.1456C>ASubstitution - Missense
GSG1ENSG00000111305ENST00000351606p.A141Vc.422C>TSubstitution - Missense
FZD10ENSG00000111432ENST00000229030p.C88Cc.264C>TSubstitution - coding silent
OR2C3ENSG00000196242ENST00000366487p.I175Ic.525C>ASubstitution - coding silent
SEPN1ENSG00000162430ENST00000361547p.E435Kc.1303G>ASubstitution - Missense
C1orf172ENSG00000175707ENST00000320567p.F381Lc.1143C>ASubstitution - Missense
AIM1LENSG00000176092ENST00000308182p.F179Fc.537C>TSubstitution - coding silent
LRRIQ3ENSG00000162620ENST00000395089p.E163Kc.487G>ASubstitution - Missense
DEPDC1ENSG00000024526ENST00000456315p.D177Nc.529G>ASubstitution - Missense
DEPDC1ENSG00000024526ENST00000370966p.D177Nc.529G>ASubstitution - Missense
CAMTA1ENSG00000171735ENST00000303635p.R1064Rc.3192C>TSubstitution - coding silent
CAMTA1ENSG00000171735ENST00000303635p.E1200Kc.3598G>ASubstitution - Missense
TNNI3KENSG00000116783ENST00000326637p.S744Fc.2231C>TSubstitution - Missense
GCH1ENSG00000131979ENST00000395514p.A169Vc.506C>TSubstitution - Missense
SLC35F4ENSG00000151812ENST00000339762p.E493Kc.1477G>ASubstitution - Missense
ENST00000339762_v65p.E493Kc.1477G>ASubstitution - Missense
NRXN3ENSG00000021645ENST00000428277p.?c.247+7C>GUnknown
KCNK13ENSG00000152315ENST00000282146p.L363Lc.1087C>TSubstitution - coding silent
UACAENSG00000137831ENST00000379983p.T1067Tc.3201G>CSubstitution - coding silent
ING1ENSG00000153487ENST00000338450p.D42Dc.126C>TSubstitution - coding silent
FAM155AENSG00000204442ENST00000375915p.G201Ac.602G>CSubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.E3462Qc.10384G>CSubstitution - Missense
RAI14ENSG00000039560ENST00000265109p.Y125Hc.373T>CSubstitution - Missense
EDRF1ENSG00000107938ENST00000337623p.F418Fc.1254C>TSubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.S2353Sc.7059C>TSubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.L1646Lc.4938G>ASubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.L1644Qc.4931T>ASubstitution - Missense
APEX1ENSG00000100823ENST00000555414p.R187Rc.561C>ASubstitution - coding silent
OXA1LENSG00000155463ENST00000285848p.S119Tc.355T>ASubstitution - Missense
ANKRD13DENSG00000172932ENST00000511455p.P208Pc.624C>TSubstitution - coding silent
ANKRD13DENSG00000172932ENST00000308440p.P121Pc.363C>TSubstitution - coding silent
C12orf74ENSG00000214215ENST00000397833p.S23Lc.68C>TSubstitution - Missense
AMDHD1ENSG00000139344ENST00000266736p.E275Kc.823G>ASubstitution - Missense
KIF26BENSG00000162849ENST00000407071p.S1084Fc.3251C>TSubstitution - Missense
AFAP1L2ENSG00000169129ENST00000304129p.R648Hc.1943G>ASubstitution - Missense
PDCD11ENSG00000148843ENST00000369797p.R395Wc.1183C>TSubstitution - Missense
ANKRD49ENSG00000168876ENST00000302755p.Q42Ec.124C>GSubstitution - Missense
SLKENSG00000065613ENST00000369755p.S469Cc.1406C>GSubstitution - Missense
SYCP3ENSG00000139351ENST00000392924p.?c.454-10A>CUnknown
CLEC12BENSG00000256660ENST00000396502p.T178Sc.532A>TSubstitution - Missense
CENPJENSG00000151849ENST00000381884p.M21Lc.61A>TSubstitution - Missense
SENP1ENSG00000079387ENST00000448372p.Y506Cc.1517A>GSubstitution - Missense
POSTNENSG00000133110ENST00000379747p.E124Kc.370G>ASubstitution - Missense
KLENSG00000133116ENST00000380099p.M588Ic.1764G>TSubstitution - Missense
KLENSG00000133116ENST00000380099p.F371Ic.1111T>ASubstitution - Missense
F5ENSG00000198734ENST00000367797p.D1461Yc.4381G>TSubstitution - Missense
GJB4ENSG00000189433ENST00000339480p.P159Sc.475C>TSubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.Q209Qc.627G>ASubstitution - coding silent
APBA2ENSG00000034053ENST00000561069p.T487Tc.1461G>ASubstitution - coding silent
ENST00000563027_v68p.S553Fc.1658C>TSubstitution - Missense
ENST00000563027_v68p.I533Ic.1599T>CSubstitution - coding silent
IGSF9ENSG00000085552ENST00000361509p.Q137Kc.409C>ASubstitution - Missense
FBLIM1ENSG00000162458ENST00000441801p.P89Sc.265C>TSubstitution - Missense
FBLIM1ENSG00000162458ENST00000375771p.P89Sc.265C>TSubstitution - Missense
TSTD1ENSG00000215845ENST00000423014p.F77Lc.231C>GSubstitution - Missense
ENST00000423014_v68p.F77Lc.231C>GSubstitution - Missense
TSTD1ENSG00000215845ENST00000423014p.L75Fc.223C>TSubstitution - Missense
USH1CENSG00000006611ENST00000005226p.R757Hc.2270G>ASubstitution - Missense
USH1CENSG00000006611ENST00000318024p.R457Hc.1370G>ASubstitution - Missense
RPS13ENSG00000110700ENST00000525634p.?c.151+6T>CUnknown
CACNA1EENSG00000198216ENST00000367573p.S351Sc.1053C>TSubstitution - coding silent
PTPRBENSG00000127329ENST00000334414p.L1727Pc.5180T>CSubstitution - Missense
PTPRBENSG00000127329ENST00000261266p.L1509Pc.4526T>CSubstitution - Missense
NM_002837.2p.L1509Pc.4526T>CSubstitution - Missense
PTPRBENSG00000127329ENST00000261266p.T605Tc.1815C>TSubstitution - coding silent
IFT46ENSG00000118096ENST00000264020p.S339Lc.1016C>TSubstitution - Missense
ALKBH8ENSG00000137760ENST00000428149p.R95Tc.284G>CSubstitution - Missense
TRPM5ENSG00000070985ENST00000155858p.D166Nc.496G>ASubstitution - Missense
PSMD13ENSG00000185627ENST00000431206p.R249Qc.746G>ASubstitution - Missense
PSMD13ENSG00000185627ENST00000532097p.R247Qc.740G>ASubstitution - Missense
TSSC4ENSG00000184281ENST00000333256p.L260Vc.778C>GSubstitution - Missense
NELL1ENSG00000165973ENST00000357134p.P221Ac.661C>GSubstitution - Missense
NAT10ENSG00000135372ENST00000257829p.Q369Ec.1105C>GSubstitution - Missense
LRIF1ENSG00000121931ENST00000369763p.S21Lc.62C>TSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.?c.15320-7C>TUnknown
HMCN1ENSG00000143341ENST00000271588p.E2400Qc.7198G>CSubstitution - Missense
ABCC1ENSG00000103222ENST00000399410p.S312Fc.935C>TSubstitution - Missense
MALRD1ENSG00000204740ENST00000454679p.I526Fc.1576A>TSubstitution - Missense
MALRD1ENSG00000204740ENST00000454679p.T756fs*46c.2263delCDeletion - Frameshift
CUBNENSG00000107611ENST00000377833p.Y1124Cc.3371A>GSubstitution - Missense
MALRD1ENSG00000204740ENST00000454679p.D1055Nc.3163G>ASubstitution - Missense
MYO3AENSG00000095777ENST00000265944p.G987Rc.2959G>ASubstitution - Missense
PTGR2ENSG00000140043ENST00000267568p.Y51Cc.152A>GSubstitution - Missense
FAM161BENSG00000156050ENST00000286544p.K352Ec.1054A>GSubstitution - Missense
FAM161BENSG00000156050ENST00000286544p.K289Ec.865A>GSubstitution - Missense
PARNENSG00000140694ENST00000437198p.P222Pc.666G>ASubstitution - coding silent
ENSG00000234719ENST00000399147p.E351Kc.1051G>ASubstitution - Missense
NM_006218.1p.E545Kc.1633G>ASubstitution - Missense
KLF6ENSG00000067082ENST00000497571p.R198Rc.594G>ASubstitution - coding silent
TLN1ENSG00000137076ENST00000314888p.E384Kc.1150G>ASubstitution - Missense
PIK3CAENSG00000121879ENST00000263967p.E545Kc.1633G>ASubstitution - Missense
PRSS1ENSG00000204983ENST00000311737p.T137Tc.411G>ASubstitution - coding silent
DLEC1ENSG00000008226ENST00000308059p.T413Tc.1239G>ASubstitution - coding silent
DLEC1ENSG00000008226ENST00000346219p.T413Tc.1239G>ASubstitution - coding silent
PCDHGB6ENSG00000253305ENST00000520790p.E745Kc.2233G>ASubstitution - Missense
COL13A1ENSG00000197467ENST00000398969p.R299Wc.895C>TSubstitution - Missense
COL13A1ENSG00000197467ENST00000398978p.R316Wc.946C>TSubstitution - Missense
OR1L6ENSG00000171459ENST00000373684p.R176Wc.526C>TSubstitution - Missense
GPR182ENSG00000166856ENST00000300098p.K341Kc.1023G>ASubstitution - coding silent
CFDP1ENSG00000153774ENST00000283882p.G215Rc.643G>ASubstitution - Missense
GGTLC1ENSG00000149435ENST00000278765p.T112Tc.336G>ASubstitution - coding silent
PTPLAD2ENSG00000188921ENST00000513293p.S140Fc.419C>TSubstitution - Missense
SLFN13ENSG00000154760ENST00000285013p.L476Lc.1428C>GSubstitution - coding silent
FAT3ENSG00000165323ENST00000409404p.T2037Mc.6110C>TSubstitution - Missense
KCNA5ENSG00000130037ENST00000252321p.R577Qc.1730G>ASubstitution - Missense
PCDH17ENSG00000118946ENST00000377918p.P640Pc.1920G>ASubstitution - coding silent
CCDC106ENSG00000173581ENST00000308964p.A142Ac.426G>ASubstitution - coding silent
SYNJ2ENSG00000078269ENST00000355585p.V209Ic.625G>ASubstitution - Missense
EPPK1ENSG00000227184ENST00000525985p.G285Sc.853G>ASubstitution - Missense
SPAG4ENSG00000061656ENST00000374273p.R328Qc.983G>ASubstitution - Missense
DNASE1L2ENSG00000167968ENST00000320700p.A207Ac.621C>TSubstitution - coding silent
FRMPD1ENSG00000070601ENST00000377765p.L1042Lc.3126A>GSubstitution - coding silent
TP63ENSG00000073282ENST00000264731p.S154Fc.461C>TSubstitution - Missense
NCKAP1LENSG00000123338ENST00000293373p.V380Vc.1140C>TSubstitution - coding silent
SP7ENSG00000170374ENST00000536324p.S411Lc.1232C>TSubstitution - Missense
RAB5BENSG00000111540ENST00000553116p.V41Ic.121G>ASubstitution - Missense
ITGA7ENSG00000135424ENST00000553804p.R655Rc.1965C>TSubstitution - coding silent
PAN2ENSG00000135473ENST00000440411p.E59Kc.175G>ASubstitution - Missense
ERBB3ENSG00000065361ENST00000267101p.E1218Qc.3652G>CSubstitution - Missense
ERBB3ENSG00000065361ENST00000267101p.Q1340Hc.4020G>CSubstitution - Missense
PMLENSG00000140464ENST00000268059p.P624Sc.1870C>TSubstitution - Missense
CUX2ENSG00000111249ENST00000261726p.A536Vc.1607C>TSubstitution - Missense
RNF219ENSG00000152193ENST00000282003p.Q212Ec.634C>GSubstitution - Missense
ENST00000595843p.H199Pc.596A>CSubstitution - Missense
RAB3GAP2ENSG00000118873ENST00000358951p.Q900*c.2698C>TSubstitution - Nonsense
RASSF4ENSG00000107551ENST00000340258p.I53Tc.158T>CSubstitution - Missense
DUSP13ENSG00000079393ENST00000394707p.T288Mc.863C>TSubstitution - Missense
ANKRD1ENSG00000148677ENST00000371697p.?c.651+10C>TUnknown
CRTAMENSG00000109943ENST00000227348p.S335Lc.1004C>TSubstitution - Missense
EXT2ENSG00000151348ENST00000358681p.R299Hc.896G>ASubstitution - Missense
EXT2ENSG00000151348ENST00000533608p.R299Hc.896G>ASubstitution - Missense
ANO9ENSG00000185101ENST00000332826p.L506Lc.1516C>TSubstitution - coding silent
TRIM68ENSG00000167333ENST00000300747p.R70Wc.208C>TSubstitution - Missense
CHST1ENSG00000175264ENST00000308064p.L160Lc.480C>GSubstitution - coding silent
CD82ENSG00000085117ENST00000227155p.S154Sc.462C>TSubstitution - coding silent
FCRL5ENSG00000143297ENST00000361835p.E831*c.2491G>TSubstitution - Nonsense
OR10X1ENSG00000186400ENST00000368150p.S109Lc.326C>TSubstitution - Missense
ENST00000458043_v65p.G2058Vc.6173G>TSubstitution - Missense
OTOGLENSG00000165899ENST00000458043p.G423Vc.1268G>TSubstitution - Missense
FOXJ2ENSG00000065970ENST00000162391p.L572Fc.1716G>CSubstitution - Missense
RHOUENSG00000116574ENST00000366691p.V131Mc.391G>ASubstitution - Missense
KCNK1ENSG00000135750ENST00000446915p.R12Kc.35G>ASubstitution - Missense
KCNK1ENSG00000135750ENST00000366621p.L223Lc.669G>ASubstitution - coding silent
PLEKHA5ENSG00000052126ENST00000299275p.I369Mc.1107C>GSubstitution - Missense
PLEKHA5ENSG00000052126ENST00000429027p.I375Mc.1125C>GSubstitution - Missense
CSRNP2ENSG00000110925ENST00000228515p.F4Fc.12C>TSubstitution - coding silent
GOLGA6L4ENSG00000184206ENST00000510439p.D164fs*6c.488delADeletion - Frameshift
TICRRENSG00000140534ENST00000268138p.K1577Nc.4731G>CSubstitution - Missense
P4HA3ENSG00000149380ENST00000331597p.D231Gc.692A>GSubstitution - Missense
UCP3ENSG00000175564ENST00000314032p.D201Nc.601G>ASubstitution - Missense
EDRF1ENSG00000107938ENST00000356792p.F452Fc.1356C>TSubstitution - coding silent


COSMIC

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