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Copy Number Variation
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NCI-H508 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

696 mutations reported
251 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
ZBTB16ENSG00000109906ENST00000335953p.P658Lc.1973C>TSubstitution - Missense
CILPENSG00000138615ENST00000261883p.A87Ac.261C>TSubstitution - coding silent
PPP2R5CENSG00000078304ENST00000328724p.A419Ac.1257G>ASubstitution - coding silent
SLC40A1ENSG00000138449ENST00000261024p.P201Tc.601C>ASubstitution - Missense
GDF5OSENSG00000204183ENST00000374375p.L202Mc.604C>ASubstitution - Missense
TTC3ENSG00000182670ENST00000354749p.P1829Pc.5487T>CSubstitution - coding silent
EPPK1ENSG00000227184ENST00000525985p.T1986Mc.5957C>TSubstitution - Missense
PIGXENSG00000163964ENST00000314118p.H112Qc.336T>GSubstitution - Missense
TRAPPC11ENSG00000168538ENST00000334690p.T1072Tc.3216G>ASubstitution - coding silent
PRUNE2ENSG00000106772ENST00000376718p.E1748*c.5242G>TSubstitution - Nonsense
KITENSG00000157404ENST00000288135p.T67Sc.200C>GSubstitution - Missense
OR1N1ENSG00000171505ENST00000304880p.L224Mc.670C>ASubstitution - Missense
NTRK1ENSG00000198400ENST00000392302p.V598Vc.1794C>TSubstitution - coding silent
OR4Q3ENSG00000182652ENST00000331723p.V46Vc.138G>ASubstitution - coding silent
PPHLN1ENSG00000134283ENST00000358314p.V31Dc.92T>ASubstitution - Missense
NELL2ENSG00000184613ENST00000429094p.C689Rc.2065T>CSubstitution - Missense
CCDC175ENSG00000151838ENST00000281581p.K150Rc.449A>GSubstitution - Missense
RBM48ENSG00000127993ENST00000265732p.T278Sc.832A>TSubstitution - Missense
THOC5ENSG00000100296ENST00000397871p.I556Ic.1668C>TSubstitution - coding silent
SIGLEC6ENSG00000105492ENST00000425629p.R101Rc.301A>CSubstitution - coding silent
BIN1ENSG00000136717ENST00000259238p.G96Sc.286G>ASubstitution - Missense
NM_023038.2p.G758Gc.2274G>ASubstitution - coding silent
AADATENSG00000109576ENST00000337664p.?c.654+6G>AUnknown
ARHGAP20ENSG00000137727ENST00000533353p.R959Wc.2875C>TSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.R273Hc.818G>ASubstitution - Missense
PRKAA1ENSG00000132356ENST00000397128p.R444Cc.1330C>TSubstitution - Missense
PCDHB10ENSG00000120324ENST00000239446p.G622Gc.1866G>CSubstitution - coding silent
OR2M2ENSG00000198601ENST00000359682p.T269Mc.806C>TSubstitution - Missense
HSPG2ENSG00000142798ENST00000374673p.P6Rc.16C>GSubstitution - Missense
PPHLN1ENSG00000134283ENST00000395568p.V31Dc.92T>ASubstitution - Missense
EIF2B3ENSG00000070785ENST00000360403p.?c.1203-9G>AUnknown
TTLL5ENSG00000119685ENST00000298832p.E606Dc.1818G>TSubstitution - Missense
SLC36A4ENSG00000180773ENST00000326402p.E183Ec.549A>GSubstitution - coding silent
PRKAA2ENSG00000162409ENST00000371244p.T221Mc.662C>TSubstitution - Missense
RPLP1ENSG00000137818ENST00000260379p.G67_P68insGc.200_201insTGGInsertion - In frame
APOBENSG00000084674ENST00000233242p.A43Ac.129G>ASubstitution - coding silent
ZNFX1ENSG00000124201ENST00000396105p.T1155Nc.3464C>ASubstitution - Missense
SOGA1ENSG00000149639ENST00000237536p.V291Vc.873G>CSubstitution - coding silent
TBX4ENSG00000121075ENST00000240335p.H233Yc.697C>TSubstitution - Missense
CEP192ENSG00000101639ENST00000325971p.V1347Lc.4039G>TSubstitution - Missense
PDAP1ENSG00000106244ENST00000350498p.L27Lc.81G>ASubstitution - coding silent
OR5K2ENSG00000231861ENST00000427338p.G89Vc.266G>TSubstitution - Missense
FAM179AENSG00000189350ENST00000379558p.A306Ac.918C>TSubstitution - coding silent
SCLYENSG00000132330ENST00000254663p.G257Gc.771C>TSubstitution - coding silent
MCM2ENSG00000073111ENST00000265056p.G125Gc.375C>TSubstitution - coding silent
PTPRMENSG00000173482ENST00000332175p.T690Nc.2069C>ASubstitution - Missense
CMYA5ENSG00000164309ENST00000446378p.S1510Lc.4529C>TSubstitution - Missense
SEMA4DENSG00000187764ENST00000450295p.L312Fc.934C>TSubstitution - Missense
TRIM10ENSG00000204613ENST00000449742p.C266Yc.797G>ASubstitution - Missense
PALB2ENSG00000083093ENST00000261584p.L273Rc.818T>GSubstitution - Missense
SETENSG00000119335ENST00000372692p.?c.848_850-3del598Unknown
DHX29ENSG00000067248ENST00000251636p.Q1251Hc.3753A>CSubstitution - Missense
ENST00000340134_v70p.R222Qc.665G>ASubstitution - Missense
PPAPDC1AENSG00000203805ENST00000369073p.V202Ic.604G>ASubstitution - Missense
LPIN1ENSG00000134324ENST00000449576p.S237Lc.710C>TSubstitution - Missense
NRXN1ENSG00000179915ENST00000402717p.T84Tc.252G>ASubstitution - coding silent
WNK2ENSG00000165238ENST00000427277p.P418Pc.1254C>TSubstitution - coding silent
FAM91A1ENSG00000176853ENST00000334705p.D104Nc.310G>ASubstitution - Missense
BBS9ENSG00000122507ENST00000354265p.D815Ec.2445C>ASubstitution - Missense
SEPT7ENSG00000122545ENST00000469679p.?c.274-6T>CUnknown
PAPPA2ENSG00000116183ENST00000367662p.R1718Hc.5153G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.A246Tc.736G>ASubstitution - Missense
EPXENSG00000121053ENST00000225371p.R61Wc.181C>TSubstitution - Missense
ENST00000317359p.V209Lc.625G>TSubstitution - Missense
DNMBPENSG00000107554ENST00000342239p.R151Qc.452G>ASubstitution - Missense
ENSG00000188897ENST00000344649p.G433Rc.1297G>ASubstitution - Missense
TMCC2ENSG00000133069ENST00000358024p.L228Lc.684G>TSubstitution - coding silent
ZNF91ENSG00000167232ENST00000300619p.C29Yc.86G>ASubstitution - Missense
GDF5OSENSG00000204183ENST00000374375p.L202Qc.605T>ASubstitution - Missense
LDLRENSG00000130164ENST00000558518p.T413Tc.1239G>TSubstitution - coding silent
MYO18AENSG00000196535ENST00000527372p.K1209Ec.3625A>GSubstitution - Missense
ATP8A1ENSG00000124406ENST00000381668p.T754Pc.2260A>CSubstitution - Missense
HSPA4LENSG00000164070ENST00000508776p.A368Ac.1104T>GSubstitution - coding silent
DIRC2ENSG00000138463ENST00000261038p.M284Ic.852G>TSubstitution - Missense
ENST00000367531p.L557Vc.1669C>GSubstitution - Missense
CNOT10ENSG00000182973ENST00000454516p.K290Kc.870G>ASubstitution - coding silent
KMT2CENSG00000055609ENST00000262189p.A286Ec.857C>ASubstitution - Missense
KCNMA1ENSG00000156113ENST00000286627p.R830Qc.2489G>ASubstitution - Missense
ADAM21ENSG00000139985ENST00000267499p.R96Hc.287G>ASubstitution - Missense
XPO4ENSG00000132953ENST00000255305p.A881Ac.2643C>GSubstitution - coding silent
SNTG1ENSG00000147481ENST00000518864p.S189Sc.567G>ASubstitution - coding silent
NLRP7ENSG00000167634ENST00000328092p.L132Fc.396G>TSubstitution - Missense
HSD17B11ENSG00000198189ENST00000358290p.V179Vc.537C>TSubstitution - coding silent
EGR4ENSG00000135625ENST00000545030p.L153Sc.458T>CSubstitution - Missense
SLC41A3ENSG00000114544ENST00000383598p.R18Lc.53G>TSubstitution - Missense
CPNE4ENSG00000196353ENST00000512055p.R500Rc.1498C>ASubstitution - coding silent
NRCAMENSG00000091129ENST00000379022p.G692Wc.2074G>TSubstitution - Missense
EEF2KENSG00000103319ENST00000263026p.D584Nc.1750G>ASubstitution - Missense
ENST00000316490p.?c.1671-9T>GUnknown
IQSEC3ENSG00000120645ENST00000538872p.E934Dc.2802G>CSubstitution - Missense
SEPT7ENSG00000122545ENST00000494488p.?c.235-6T>CUnknown
BRAFENSG00000157764ENST00000288602p.G596Rc.1786G>CSubstitution - Missense
OR6C75ENSG00000187857ENST00000343399p.R221Qc.662G>ASubstitution - Missense
MYO7AENSG00000137474ENST00000409709p.L172Lc.514C>TSubstitution - coding silent
RNF17ENSG00000132972ENST00000255324p.V1513Vc.4539A>GSubstitution - coding silent
VANGL2ENSG00000162738ENST00000368061p.I158Ic.474C>TSubstitution - coding silent
MYO1BENSG00000128641ENST00000339514p.Y618*c.1854C>ASubstitution - Nonsense
BPIFB4ENSG00000186191ENST00000375483p.?c.1027-9C>TUnknown
LMNB2ENSG00000176619ENST00000582871p.T341Mc.1022C>TSubstitution - Missense
ENST00000374375_v68p.L202Mc.604C>ASubstitution - Missense
CDH4ENSG00000179242ENST00000360469p.P698Lc.2093C>TSubstitution - Missense
HIST1H2BHENSG00000197459ENST00000356350p.Q48*c.142C>TSubstitution - Nonsense
CEP192ENSG00000101639ENST00000506447p.V1943Lc.5827G>TSubstitution - Missense
CAMKVENSG00000164076ENST00000477224p.R92Cc.274C>TSubstitution - Missense
TNK2ENSG00000061938ENST00000333602p.R187Qc.560G>ASubstitution - Missense
PARK2ENSG00000185345ENST00000366892p.N144Nc.432C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000423061p.A253Tc.757G>ASubstitution - Missense
WBSCR17ENSG00000185274ENST00000333538p.T517Tc.1551C>TSubstitution - coding silent
ENST00000361570_v62p.R139*c.415C>TSubstitution - Nonsense
CSNK1G2ENSG00000133275ENST00000255641p.S33Lc.98C>TSubstitution - Missense
GTPBP1ENSG00000100226ENST00000458073p.R61Hc.182G>ASubstitution - Missense
KCNMB3ENSG00000171121ENST00000314235p.Y205fs*2c.605_606insAInsertion - Frameshift
PCDHGA3ENSG00000254245ENST00000253812p.R752Rc.2256C>TSubstitution - coding silent
PCDHA1ENSG00000204970ENST00000378133p.V2Ec.5T>ASubstitution - Missense
RPS14ENSG00000164587ENST00000312037p.R147Cc.439C>TSubstitution - Missense
GM2AENSG00000196743ENST00000357164p.C99Yc.296G>ASubstitution - Missense
RIMS4ENSG00000101098ENST00000372851p.?c.98-9G>AUnknown
CHD4ENSG00000111642ENST00000309577p.R1105Wc.3313C>TSubstitution - Missense
SPOPENSG00000121067ENST00000393328p.E47Kc.139G>ASubstitution - Missense
NDST1ENSG00000070614ENST00000261797p.R875Qc.2624G>ASubstitution - Missense
ZNF385AENSG00000161642ENST00000551109p.G84Gc.252C>TSubstitution - coding silent
LARP6ENSG00000166173ENST00000299213p.E101Kc.301G>ASubstitution - Missense
KIF16BENSG00000089177ENST00000408042p.I726Tc.2177T>CSubstitution - Missense
NM_003954p.E944Ec.2832G>ASubstitution - coding silent
UBE2OENSG00000175931ENST00000319380p.Q300Rc.899A>GSubstitution - Missense
LRRTM4ENSG00000176204ENST00000409911p.L93Vc.277C>GSubstitution - Missense
CDKN2AENSG00000147889ENST00000498124p.H83Hc.249C>TSubstitution - coding silent
KDM3BENSG00000120733ENST00000314358p.W117*c.351G>ASubstitution - Nonsense
GPR141ENSG00000187037ENST00000334425p.G31Rc.91G>ASubstitution - Missense
ZBTB43ENSG00000169155ENST00000373457p.T281Mc.842C>TSubstitution - Missense
OR5T1ENSG00000181698ENST00000313033p.F289Ic.865T>ASubstitution - Missense
PLEKHH1ENSG00000054690ENST00000417684p.?c.164+10C>TUnknown
HSPA4LENSG00000164070ENST00000439123p.A399Ac.1197T>GSubstitution - coding silent
CCDC62ENSG00000130783ENST00000341952p.R242Cc.724C>TSubstitution - Missense
CCDC62ENSG00000130783ENST00000253079p.R242Cc.724C>TSubstitution - Missense
ENST00000338010_v68p.G104Gc.312C>TSubstitution - coding silent
AMHR2ENSG00000135409ENST00000257863p.R172*c.514C>TSubstitution - Nonsense
MUC5BENSG00000117983ENST00000529681p.T4334Tc.13002C>TSubstitution - coding silent
CDK17ENSG00000059758ENST00000261211p.?c.600+4A>CUnknown
FAM170BENSG00000172538ENST00000311787p.D252Dc.756C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369348p.P134Hc.401C>ASubstitution - Missense
RRBP1ENSG00000125844ENST00000360807p.L899Pc.2696T>CSubstitution - Missense
FLNBENSG00000136068ENST00000490882p.V2216Mc.6646G>ASubstitution - Missense
GDF5ENSG00000125965ENST00000374369p.R218Wc.652A>TSubstitution - Missense
COL18A1ENSG00000182871ENST00000359759p.P1391Pc.4173C>ASubstitution - coding silent
NOL4ENSG00000101746ENST00000261592p.R245Sc.735A>CSubstitution - Missense
ASXL3ENSG00000141431ENST00000269197p.R578Ic.1733G>TSubstitution - Missense
GSDMBENSG00000073605ENST00000418519p.D236fs*8c.707_708insACInsertion - Frameshift
KRTAP4-12ENSG00000213416ENST00000394014p.R62Cc.184C>TSubstitution - Missense
SLAIN2ENSG00000109171ENST00000264313p.A477Tc.1429G>ASubstitution - Missense
CENPEENSG00000138778ENST00000265148p.Q1843Kc.5527C>ASubstitution - Missense
TSSC1ENSG00000032389ENST00000382125p.S306Sc.918G>ASubstitution - coding silent
EPB41L4AENSG00000129595ENST00000261486p.S39Sc.117C>ASubstitution - coding silent
RASA2ENSG00000155903ENST00000286364p.L401fs*9c.1199delCDeletion - Frameshift
MAP3K19ENSG00000176601ENST00000375845p.P1290Tc.3868C>ASubstitution - Missense
AK131216.1p.P642Tc.1924C>ASubstitution - Missense
DNAJC2ENSG00000105821ENST00000249270p.A485Tc.1453G>ASubstitution - Missense
WDR41ENSG00000164253ENST00000296679p.N368fs*1c.1094_1095insTInsertion - Frameshift
ADAMTSL2ENSG00000197859ENST00000354484p.H547Hc.1641C>TSubstitution - coding silent
METENSG00000105976ENST00000318493p.R976Tc.2927G>CSubstitution - Missense
CYP4F2ENSG00000186115ENST00000221700p.R444Hc.1331G>ASubstitution - Missense
IQSEC3ENSG00000120645ENST00000538872p.N935Sc.2804A>GSubstitution - Missense
MYO16ENSG00000041515ENST00000457511p.I454Ic.1362C>ASubstitution - coding silent
SCLYENSG00000132330ENST00000409736p.G249Gc.747C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000448038p.V2201Vc.6603A>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.A246Tc.736G>ASubstitution - Missense
ENOX1ENSG00000120658ENST00000261488p.R395Hc.1184G>ASubstitution - Missense
CAPZA3ENSG00000177938ENST00000317658p.W174*c.521G>ASubstitution - Nonsense
SYCP1ENSG00000198765ENST00000369518p.Q298Ec.892C>GSubstitution - Missense
FOXJ3ENSG00000198815ENST00000372573p.E286Ec.858A>GSubstitution - coding silent
RHPN2ENSG00000131941ENST00000400226p.I280Mc.840T>GSubstitution - Missense
SLC28A2ENSG00000137860ENST00000347644p.V284Ic.850G>ASubstitution - Missense
MYO16ENSG00000041515ENST00000357550p.I942Ic.2826C>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.S5334Pc.16000T>CSubstitution - Missense
KIF16BENSG00000089177ENST00000354981p.I726Tc.2177T>CSubstitution - Missense
ZNF274ENSG00000171606ENST00000326804p.R452Cc.1354C>TSubstitution - Missense
HK2ENSG00000159399ENST00000290573p.M589Vc.1765A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.V2194Vc.6582A>TSubstitution - coding silent
PCDH10ENSG00000138650ENST00000264360p.D755Ec.2265T>ASubstitution - Missense
LXNENSG00000079257ENST00000264265p.Q196Kc.586C>ASubstitution - Missense
ZNF253ENSG00000256771ENST00000355650p.T363Tc.1089T>CSubstitution - coding silent
GTPBP1ENSG00000100226ENST00000216044p.R483Hc.1448G>ASubstitution - Missense
ENST00000319379p.K3424Nc.10272A>CSubstitution - Missense
SEPT7ENSG00000122545ENST00000399034p.?c.280-6T>CUnknown
NEBENSG00000183091ENST00000427231p.K3010Nc.9030G>TSubstitution - Missense
RNF168ENSG00000163961ENST00000318037p.V562Lc.1684G>CSubstitution - Missense
ENST00000328380p.G1580Gc.4740A>TSubstitution - coding silent
RHBDD1ENSG00000144468ENST00000392062p.?c.566+7G>TUnknown
CDKN2AENSG00000147889ENST00000446177p.H83Hc.249C>TSubstitution - coding silent
STX17ENSG00000136874ENST00000259400p.Y227Sc.680A>CSubstitution - Missense
PCDHB13ENSG00000187372ENST00000341948p.D136Gc.407A>GSubstitution - Missense
TNK2ENSG00000061938ENST00000316664p.R187Qc.560G>ASubstitution - Missense
ITGB4ENSG00000132470ENST00000200181p.R554Qc.1661G>ASubstitution - Missense
NOS2ENSG00000007171ENST00000313735p.S242Lc.725C>TSubstitution - Missense
CDC14AENSG00000079335ENST00000370124p.N123Tc.368A>CSubstitution - Missense
EPHA8ENSG00000070886ENST00000166244p.E424Kc.1270G>ASubstitution - Missense
CLYBLENSG00000125246ENST00000376360p.T102Tc.306T>CSubstitution - coding silent
RC3H1ENSG00000135870ENST00000258349p.P509Lc.1526C>TSubstitution - Missense
WDR96ENSG00000197748ENST00000357060p.D1471fs*16c.4412_4413insAInsertion - Frameshift
SYNCENSG00000162520ENST00000373484p.T145Rc.434C>GSubstitution - Missense
OAZ3ENSG00000143450ENST00000321531p.Y26Yc.78C>TSubstitution - coding silent
FBN1ENSG00000166147ENST00000316623p.G642Vc.1925G>TSubstitution - Missense
MDH1BENSG00000138400ENST00000374412p.R445Qc.1334G>ASubstitution - Missense
SU_SgK223p.D1071Dc.3213C>TSubstitution - coding silent
COL9A3ENSG00000092758ENST00000343916p.G148Sc.442G>ASubstitution - Missense
CNOT10ENSG00000182973ENST00000328834p.K230Kc.690G>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.V2194Vc.6582A>TSubstitution - coding silent
XM_379909.2p.A496Tc.1486G>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.T84Tc.252G>ASubstitution - coding silent
FAM71BENSG00000170613ENST00000302938p.T390Ac.1168A>GSubstitution - Missense
UBLCP1ENSG00000164332ENST00000296786p.?c.548-9G>AUnknown
PGBD1ENSG00000137338ENST00000259883p.I83Mc.249A>GSubstitution - Missense
PKHD1L1ENSG00000205038ENST00000378402p.R928Ic.2783G>TSubstitution - Missense
NM_007181p.L310Ic.928C>ASubstitution - Missense
HYDINENSG00000157423ENST00000393550p.?c.1671-9T>GUnknown
PTPRFENSG00000142949ENST00000422171p.Y1035Yc.3105C>TSubstitution - coding silent
SLC16A7ENSG00000118596ENST00000261187p.S372Cc.1115C>GSubstitution - Missense
SLIT2ENSG00000145147ENST00000504154p.R942*c.2824C>TSubstitution - Nonsense
OR7D4ENSG00000174667ENST00000308682p.R122Qc.365G>ASubstitution - Missense
TATENSG00000198650ENST00000355962p.D19Dc.57C>TSubstitution - coding silent
MTRENSG00000116984ENST00000366577p.A348Ac.1044C>TSubstitution - coding silent
CEP350ENSG00000135837ENST00000367607p.R589Hc.1766G>ASubstitution - Missense
FGD4ENSG00000139132ENST00000266482p.V244Lc.730G>TSubstitution - Missense
SLC28A2ENSG00000137860ENST00000347644p.A317Tc.949G>ASubstitution - Missense
SYTL2ENSG00000137501ENST00000359152p.R1572Hc.4715G>ASubstitution - Missense
ZACNENSG00000186919ENST00000334586p.K326Kc.978G>ASubstitution - coding silent
CACNA1DENSG00000157388ENST00000350061p.D449Yc.1345G>TSubstitution - Missense
GUCY2DENSG00000132518ENST00000254854p.G236Rc.706G>ASubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.V133Lc.397G>TSubstitution - Missense
NLRP7ENSG00000167634ENST00000448121p.L132Fc.396G>TSubstitution - Missense
TMEM200CENSG00000206432ENST00000383490p.P590Lc.1769C>TSubstitution - Missense
TTC30BENSG00000196659ENST00000408939p.L105Lc.315C>TSubstitution - coding silent
RNF13ENSG00000082996ENST00000344229p.Q366Qc.1098G>ASubstitution - coding silent
ZNF17ENSG00000186272ENST00000307658p.L121Hc.362T>ASubstitution - Missense
MPP3ENSG00000161647ENST00000398389p.Y462Nc.1384T>ASubstitution - Missense
ZNF585AENSG00000196967ENST00000356958p.P437Pc.1311T>GSubstitution - coding silent
TRIM10ENSG00000204613ENST00000449742p.C266Yc.797G>ASubstitution - Missense
ATAT1ENSG00000137343ENST00000330083p.T291Tc.873C>TSubstitution - coding silent
NRCAMENSG00000091129ENST00000379028p.G692Wc.2074G>TSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
NELL2ENSG00000184613ENST00000395487p.C688Rc.2062T>CSubstitution - Missense
CCDC175ENSG00000151838ENST00000537690p.K150Rc.449A>GSubstitution - Missense
WNK2ENSG00000165238ENST00000395477p.P806Pc.2418C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000341594p.V2231Vc.6693A>TSubstitution - coding silent
C4orf22ENSG00000197826ENST00000508675p.G164Vc.491G>TSubstitution - Missense
CORO1BENSG00000172725ENST00000341356p.P64Pc.192C>GSubstitution - coding silent
CORO1BENSG00000172725ENST00000545016p.P64Pc.192C>GSubstitution - coding silent
SENP1ENSG00000079387ENST00000448372p.Q262*c.784C>TSubstitution - Nonsense
TRPC6ENSG00000137672ENST00000344327p.H358Hc.1074C>TSubstitution - coding silent
NRCAMENSG00000091129ENST00000351718p.G676Wc.2026G>TSubstitution - Missense
CD177ENSG00000204936ENST00000378009p.V29Lc.85G>CSubstitution - Missense
KCNMA1ENSG00000156113ENST00000354353p.R891Qc.2672G>ASubstitution - Missense
ADAM19ENSG00000135074ENST00000430702p.G490Gc.1470G>ASubstitution - coding silent
ZCCHC5ENSG00000179300ENST00000321110p.A116Vc.347C>TSubstitution - Missense
ZW10ENSG00000086827ENST00000200135p.R478Gc.1432C>GSubstitution - Missense
STRA6ENSG00000137868ENST00000395105p.V40Vc.120G>CSubstitution - coding silent
LCMT2ENSG00000168806ENST00000305641p.L185Ic.553C>ASubstitution - Missense
DNAH10ENSG00000197653ENST00000409039p.V34Lc.100G>TSubstitution - Missense
SYTL2ENSG00000137501ENST00000354566p.R1064Hc.3191G>ASubstitution - Missense
NRXN3ENSG00000021645ENST00000335750p.N40Sc.119A>GSubstitution - Missense
IKZF2ENSG00000030419ENST00000457361p.E248Qc.742G>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S5334Pc.16000T>CSubstitution - Missense
CACNA1DENSG00000157388ENST00000288139p.E451Qc.1351G>CSubstitution - Missense
ASXL3ENSG00000141431ENST00000269197p.R871Ic.2612G>TSubstitution - Missense
RNF222ENSG00000189051ENST00000344001p.G26Gc.78C>TSubstitution - coding silent
PDE11AENSG00000128655ENST00000286063p.L266Lc.798G>TSubstitution - coding silent
STRNENSG00000115808ENST00000263918p.Y121Yc.363C>TSubstitution - coding silent
FAM47CENSG00000198173ENST00000358047p.P635Pc.1905C>TSubstitution - coding silent
IL4RENSG00000077238ENST00000395762p.R185Cc.553C>TSubstitution - Missense
TOMM6ENSG00000214736ENST00000398884p.S9Nc.26G>ASubstitution - Missense
GNL3LENSG00000130119ENST00000336470p.T437Sc.1310C>GSubstitution - Missense
ADAM19ENSG00000135074ENST00000257527p.G757Gc.2271G>ASubstitution - coding silent
PCDHGA2ENSG00000081853ENST00000394576p.P245Pc.735C>TSubstitution - coding silent
ACTR3BENSG00000133627ENST00000256001p.S354Sc.1062C>TSubstitution - coding silent
HYDINENSG00000157423ENST00000321489p.?c.1671-9T>GUnknown
STK10ENSG00000072786ENST00000176763p.?c.1005+10G>TUnknown
RAB11FIP2ENSG00000107560ENST00000369199p.T13Ic.38C>TSubstitution - Missense
PRKAA1ENSG00000132356ENST00000354209p.R459Cc.1375C>TSubstitution - Missense
NMSENSG00000204640ENST00000376865p.R112*c.334C>TSubstitution - Nonsense
CUEDC2ENSG00000107874ENST00000369937p.R202Kc.605G>ASubstitution - Missense
PPHLN1ENSG00000134283ENST00000395580p.V38Dc.113T>ASubstitution - Missense
TRIAP1ENSG00000170855ENST00000546954p.S76Ac.226T>GSubstitution - Missense
TMPRSS4ENSG00000137648ENST00000437212p.G79Rc.235G>ASubstitution - Missense
GDF5ENSG00000125965ENST00000374369p.R218Mc.653G>TSubstitution - Missense
MYOM2ENSG00000036448ENST00000262113p.?c.794-8_794-7ins40Unknown
MYOM2ENSG00000036448ENST00000262113p.G362Sc.1084G>ASubstitution - Missense
NAGPAENSG00000103174ENST00000312251p.A500Ac.1500C>TSubstitution - coding silent
COL18A1ENSG00000182871ENST00000355480p.P1156Pc.3468C>ASubstitution - coding silent
CREBBPENSG00000005339ENST00000262367p.F1540fs*10c.4620delTDeletion - Frameshift
NRXN1ENSG00000179915ENST00000406316p.T84Tc.252G>ASubstitution - coding silent
GRAMD3ENSG00000155324ENST00000285689p.V213Vc.639G>ASubstitution - coding silent
SLC4A1ENSG00000004939ENST00000262418p.R832Cc.2494C>TSubstitution - Missense
KCNMB3ENSG00000171121ENST00000349697p.Y203fs*2c.599_600insAInsertion - Frameshift
TRIM10ENSG00000204613ENST00000376704p.C266Yc.797G>ASubstitution - Missense
HIST1H2AJENSG00000182611ENST00000333151p.A104Ac.312A>CSubstitution - coding silent
EEF2KENSG00000103319ENST00000263026p.D584Nc.1750G>ASubstitution - Missense
NCOA5ENSG00000124160ENST00000290231p.L391Lc.1173C>TSubstitution - coding silent
ZNF346ENSG00000113761ENST00000358149p.D131fs*11c.388delADeletion - Frameshift
CORO1BENSG00000172725ENST00000453768p.P64Pc.192C>GSubstitution - coding silent
STRA6ENSG00000137868ENST00000563965p.V79Vc.237G>CSubstitution - coding silent
COL6A3ENSG00000163359ENST00000392004p.N771Nc.2313C>TSubstitution - coding silent
ATP7BENSG00000123191ENST00000242839p.S20Yc.59C>ASubstitution - Missense
METTL21BENSG00000123427ENST00000333012p.P8Sc.22C>TSubstitution - Missense
DNMBPENSG00000107554ENST00000324109p.R151Qc.452G>ASubstitution - Missense
CDK18ENSG00000117266ENST00000506784p.A421Vc.1262C>TSubstitution - Missense
ENSG00000206044ENST00000382678p.S220Fc.659C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S7287Sc.21861C>TSubstitution - coding silent
ENST00000344648p.L622Lc.1866A>CSubstitution - coding silent
PXDNLENSG00000147485ENST00000356297p.R690Wc.2068C>TSubstitution - Missense
SOGA1ENSG00000149639ENST00000237536p.V291Vc.873G>CSubstitution - coding silent
CA1ENSG00000133742ENST00000523953p.R228Hc.683G>ASubstitution - Missense
CRYAAENSG00000160202ENST00000291554p.S172Sc.516G>ASubstitution - coding silent
POTECENSG00000183206ENST00000358970p.T77Mc.230C>TSubstitution - Missense
NELL2ENSG00000184613ENST00000395487p.T54Mc.161C>TSubstitution - Missense
CHD4ENSG00000111642ENST00000357008p.R1105Wc.3313C>TSubstitution - Missense
CDK17ENSG00000059758ENST00000543119p.?c.600+4A>CUnknown
CDC14AENSG00000079335ENST00000361544p.N123Tc.368A>CSubstitution - Missense
CDC14AENSG00000079335ENST00000544534p.N123Tc.368A>CSubstitution - Missense
CDC14AENSG00000079335ENST00000455467p.N124Tc.371A>CSubstitution - Missense
GJB4ENSG00000189433ENST00000339480p.A140Ac.420C>TSubstitution - coding silent
RNF157ENSG00000141576ENST00000269391p.S465Lc.1394C>TSubstitution - Missense
TBCDENSG00000141556ENST00000397466p.?c.161-4C>TUnknown
NLRP7ENSG00000167634ENST00000446217p.L160Fc.480G>TSubstitution - Missense
MDH1BENSG00000138400ENST00000392214p.R232Qc.695G>ASubstitution - Missense
PIGXENSG00000163964ENST00000296333p.H153Qc.459T>GSubstitution - Missense
FGAENSG00000171560ENST00000403106p.S501Sc.1503T>CSubstitution - coding silent
SH3BP2ENSG00000087266ENST00000503393p.H299Hc.897C>TSubstitution - coding silent
ZNF346ENSG00000113761ENST00000503039p.D156fs*11c.463delADeletion - Frameshift
ENST00000378024_v70p.D3061Gc.9182A>GSubstitution - Missense
SETENSG00000119335ENST00000372688p.?c.776_778-3del598Unknown
EVC2ENSG00000173040ENST00000344938p.G1197Gc.3591C>ASubstitution - coding silent
GRAMD3ENSG00000155324ENST00000542322p.V221Vc.663G>ASubstitution - coding silent
ADAM19ENSG00000135074ENST00000394020p.G759Gc.2277G>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000448038p.A253Tc.757G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.A246Tc.736G>ASubstitution - Missense
ATAT1ENSG00000137343ENST00000329992p.T303Tc.909C>TSubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000393061p.H656Hc.1968C>TSubstitution - coding silent
HDAC8ENSG00000147099ENST00000373561p.I94Tc.281T>CSubstitution - Missense
KRT31ENSG00000094796ENST00000251645p.N376Nc.1128C>TSubstitution - coding silent
ANKRD13AENSG00000076513ENST00000261739p.R571Wc.1711C>TSubstitution - Missense
ITGB4ENSG00000132470ENST00000339591p.R554Qc.1661G>ASubstitution - Missense
ANKRD30AENSG00000148513ENST00000602533p.A328Tc.982G>ASubstitution - Missense
ZNF385AENSG00000161642ENST00000394313p.G84Gc.252C>TSubstitution - coding silent
NELL2ENSG00000184613ENST00000437801p.T105Mc.314C>TSubstitution - Missense
RAB11FIP2ENSG00000107560ENST00000355624p.T13Ic.38C>TSubstitution - Missense
ZC3H7AENSG00000122299ENST00000355758p.V43Mc.127G>ASubstitution - Missense
SYTL2ENSG00000137501ENST00000316356p.R727Hc.2180G>ASubstitution - Missense
MYOM2ENSG00000036448ENST00000262113p.R51Wc.151C>TSubstitution - Missense
CACNA1DENSG00000157388ENST00000288139p.D449Yc.1345G>TSubstitution - Missense
KRTAP21-1ENSG00000187005ENST00000335093p.G23Gc.69C>ASubstitution - coding silent
ZNF525ENSG00000203326ENST00000474037p.T123Ic.368C>TSubstitution - Missense
SENP7ENSG00000138468ENST00000394095p.?c.1319-7G>AUnknown
ABI3BPENSG00000154175ENST00000284322p.R245Gc.733A>GSubstitution - Missense
MFI2ENSG00000163975ENST00000296350p.S165Sc.495C>TSubstitution - coding silent
CDX4ENSG00000131264ENST00000373514p.E214Kc.640G>ASubstitution - Missense
CCT6BENSG00000132141ENST00000314144p.A439Dc.1316C>ASubstitution - Missense
ENST00000305759p.P245Pc.735C>TSubstitution - coding silent
PCDHGA3ENSG00000254245ENST00000253812p.R723Rc.2169C>TSubstitution - coding silent
BBS9ENSG00000122507ENST00000242067p.D850Ec.2550C>ASubstitution - Missense
ABCA3ENSG00000167972ENST00000301732p.E517Kc.1549G>ASubstitution - Missense
SETENSG00000119335ENST00000322030p.?c.809_811-3del598Unknown
CRIP3ENSG00000146215ENST00000274990p.R27Rc.81C>TSubstitution - coding silent
PTPRMENSG00000173482ENST00000400060p.T690Nc.2069C>ASubstitution - Missense
SU_DYRK4p.R578Cc.1732C>TSubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.L1077Pc.3230T>CSubstitution - Missense
IQSEC3ENSG00000120645ENST00000382841p.E633Qc.1897G>CSubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.L2038Lc.6114G>ASubstitution - coding silent
PTPLAD1ENSG00000074696ENST00000261875p.S135Rc.405C>GSubstitution - Missense
ERC2ENSG00000187672ENST00000288221p.S337Fc.1010C>TSubstitution - Missense
CDH2ENSG00000170558ENST00000269141p.D627Yc.1879G>TSubstitution - Missense
SGCEENSG00000127990ENST00000428696p.D312Ec.936C>ASubstitution - Missense
SGCEENSG00000127990ENST00000265735p.D312Ec.936C>ASubstitution - Missense
ZNF470ENSG00000197016ENST00000330619p.S67Sc.201T>CSubstitution - coding silent
LRRTM4ENSG00000176204ENST00000409093p.L92Vc.274C>GSubstitution - Missense
PLOD3ENSG00000106397ENST00000223127p.Q316*c.946C>TSubstitution - Nonsense
MAKENSG00000111837ENST00000313243p.I209Vc.625A>GSubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.T84Tc.252G>ASubstitution - coding silent
RAB23ENSG00000112210ENST00000317483p.M6Tc.17T>CSubstitution - Missense
SAMD3ENSG00000164483ENST00000368134p.F503fs*5c.1506_1507insGTInsertion - Frameshift
IMPG1ENSG00000112706ENST00000369950p.L90fs*9c.269_270insTInsertion - Frameshift
SRBD1ENSG00000068784ENST00000263736p.K102Nc.306A>TSubstitution - Missense
ABCG8ENSG00000143921ENST00000272286p.S41Tc.122G>CSubstitution - Missense
ZZEF1ENSG00000074755ENST00000381638p.Q1301Hc.3903G>CSubstitution - Missense
RBM42ENSG00000126254ENST00000262633p.V305Ic.913G>ASubstitution - Missense
ZNF585AENSG00000196967ENST00000392157p.P382Pc.1146T>GSubstitution - coding silent
ZNF607ENSG00000198182ENST00000355202p.T416Tc.1248C>TSubstitution - coding silent
SPINT2ENSG00000167642ENST00000301244p.V110Vc.330C>GSubstitution - coding silent
KCNMB3ENSG00000171121ENST00000392685p.Y201fs*2c.593_594insAInsertion - Frameshift
PCDHGA12ENSG00000253159ENST00000252085p.L167Lc.501G>TSubstitution - coding silent
PCDHGA12ENSG00000253159ENST00000252085p.L167Lc.501G>TSubstitution - coding silent
TCERG1ENSG00000113649ENST00000296702p.Q234delQc.699_701delACADeletion - In frame
AFAP1L1ENSG00000157510ENST00000296721p.A536Ac.1608T>ASubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000354484p.V871Vc.2613G>ASubstitution - coding silent
MAP4K1ENSG00000104814ENST00000396857p.L310Ic.928C>ASubstitution - Missense
ECM2ENSG00000106823ENST00000344604p.G237Gc.711G>TSubstitution - coding silent
ECM2ENSG00000106823ENST00000444490p.G215Gc.645G>TSubstitution - coding silent
PLD3ENSG00000105223ENST00000409587p.R267Qc.800G>ASubstitution - Missense
PLD3ENSG00000105223ENST00000359274p.R214Qc.641G>ASubstitution - Missense
BBS9ENSG00000122507ENST00000242067p.D850Ec.2550C>ASubstitution - Missense
PSD2ENSG00000146005ENST00000274710p.R744Qc.2231G>ASubstitution - Missense
PCDHA1ENSG00000204970ENST00000504120p.V2Ec.5T>ASubstitution - Missense
ATAT1ENSG00000137343ENST00000376483p.T303Tc.909C>TSubstitution - coding silent
TNS3ENSG00000136205ENST00000311160p.P533Pc.1599G>TSubstitution - coding silent
PKD1L1ENSG00000158683ENST00000289672p.L2720Fc.8158C>TSubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.K3479Nc.10437A>CSubstitution - Missense
RNF216ENSG00000011275ENST00000389902p.P681Pc.2043T>CSubstitution - coding silent
WDR90ENSG00000161996ENST00000293879p.S679Sc.2037G>ASubstitution - coding silent
HYDINENSG00000157423ENST00000538248p.?c.1752-9T>GUnknown
ENST00000316490_v65p.?c.1671-9T>GUnknown
HYDINENSG00000157423ENST00000288168p.?c.1722-9T>GUnknown
DCAF15ENSG00000132017ENST00000254337p.R552Cc.1654C>TSubstitution - Missense
NOTCH3ENSG00000074181ENST00000263388p.R2009Wc.6025C>TSubstitution - Missense
NOTCH3ENSG00000074181ENST00000263388p.R2009Wc.6025C>TSubstitution - Missense
PSG9ENSG00000183668ENST00000270077p.K44Ec.130A>GSubstitution - Missense
CD177ENSG00000204936ENST00000378012p.V29Lc.85G>CSubstitution - Missense
MPNDENSG00000008382ENST00000262966p.T309Mc.926C>TSubstitution - Missense
RBPJLENSG00000124232ENST00000343694p.R447Cc.1339C>TSubstitution - Missense
NEBENSG00000183091ENST00000397345p.K3010Nc.9030G>TSubstitution - Missense
RIF1ENSG00000080345ENST00000444746p.V526Ac.1577T>CSubstitution - Missense
EVC2ENSG00000173040ENST00000344408p.G1197Gc.3591C>ASubstitution - coding silent
SNX13ENSG00000071189ENST00000428135p.?c.1066-6C>GUnknown
XIRP2ENSG00000163092ENST00000295237p.D785Nc.2353G>ASubstitution - Missense
KLHL23ENSG00000213160ENST00000392647p.R215Lc.644G>TSubstitution - Missense
COL22A1ENSG00000169436ENST00000303045p.P630Pc.1890C>TSubstitution - coding silent
CNTRLENSG00000119397ENST00000373855p.S102Fc.305C>TSubstitution - Missense
LRRC8AENSG00000136802ENST00000372599p.A207Vc.620C>TSubstitution - Missense
PARLENSG00000175193ENST00000317096p.?c.126-3940_322-150del5086Unknown
SH3RF1ENSG00000154447ENST00000284637p.H564Hc.1692C>TSubstitution - coding silent
NEURL1BENSG00000214357ENST00000369800p.G450Sc.1348G>ASubstitution - Missense
NEURL1BENSG00000214357ENST00000369800p.G450Sc.1348G>ASubstitution - Missense
ANKRD55ENSG00000164512ENST00000341048p.S70Yc.209C>ASubstitution - Missense
CRIP3ENSG00000146215ENST00000372569p.R27Rc.81C>TSubstitution - coding silent
IQSEC3ENSG00000120645ENST00000382841p.N632Sc.1895A>GSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.V980Vc.2940G>ASubstitution - coding silent
KCNMA1ENSG00000156113ENST00000404771p.R825Qc.2474G>ASubstitution - Missense
KCNMA1ENSG00000156113ENST00000372443p.R830Qc.2489G>ASubstitution - Missense
HBG2ENSG00000196565ENST00000380259p.F46Fc.138T>CSubstitution - coding silent
ENST00000345013p.V190Ac.569T>CSubstitution - Missense
OR5AR1ENSG00000172459ENST00000302969p.V9Mc.25G>ASubstitution - Missense
IQSEC3ENSG00000120645ENST00000382841p.E631Dc.1893G>CSubstitution - Missense
MPHOSPH9ENSG00000051825ENST00000302349p.P742Pc.2226G>ASubstitution - coding silent
MFI2ENSG00000163975ENST00000296351p.S165Sc.495C>TSubstitution - coding silent
TADA3ENSG00000171148ENST00000301964p.?c.458+4C>AUnknown
ENST00000265148.1p.Q1843Kc.5527C>ASubstitution - Missense
C4orf22ENSG00000197826ENST00000358105p.G147Vc.440G>TSubstitution - Missense
SLC20A2ENSG00000168575ENST00000342228p.A457Ac.1371G>ASubstitution - coding silent
FAM47CENSG00000198173ENST00000358047p.P635Pc.1905C>TSubstitution - coding silent
SSC5DENSG00000179954ENST00000389623p.P970Qc.2909C>ASubstitution - Missense
NLRP4ENSG00000160505ENST00000301295p.A461Sc.1381G>TSubstitution - Missense
NLRP4ENSG00000160505ENST00000587891p.A386Sc.1156G>TSubstitution - Missense
ZSCAN5CENSG00000204532ENST00000534327p.V373Ic.1117G>ASubstitution - Missense
SLC16A6ENSG00000108932ENST00000327268p.R91Hc.272G>ASubstitution - Missense
KLF11ENSG00000172059ENST00000305883p.L318Lc.952C>TSubstitution - coding silent
MFSD9ENSG00000135953ENST00000258436p.N276Nc.828C>TSubstitution - coding silent
CCT5ENSG00000150753ENST00000280326p.Q290Ec.868C>GSubstitution - Missense
MMP15ENSG00000102996ENST00000219271p.D371Dc.1113C>TSubstitution - coding silent
TSSK1BENSG00000212122ENST00000390666p.A39Ac.117G>ASubstitution - coding silent
NAGKENSG00000124357ENST00000244204p.?c.579+9C>TUnknown
ENST00000258092p.L50Sc.149T>CSubstitution - Missense
RAB11FIP5ENSG00000135631ENST00000258098p.E161Gc.482A>GSubstitution - Missense
LRRTM4ENSG00000176204ENST00000409088p.L92Vc.274C>GSubstitution - Missense
IGSF10ENSG00000152580ENST00000282466p.T563Tc.1689C>ASubstitution - coding silent
RNF13ENSG00000082996ENST00000392894p.Q366Qc.1098G>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000423061p.V2201Vc.6603A>TSubstitution - coding silent
TCP1ENSG00000120438ENST00000321394p.I17Mc.51C>GSubstitution - Missense
TMEM181ENSG00000146433ENST00000367090p.?c.580-2_583delagCTAAUnknown
PARK2ENSG00000185345ENST00000366898p.N144Nc.432C>TSubstitution - coding silent
ZNF804BENSG00000182348ENST00000333190p.H1280Qc.3840C>GSubstitution - Missense
LPIN1ENSG00000134324ENST00000256720p.S188Lc.563C>TSubstitution - Missense
BIN1ENSG00000136717ENST00000316724p.G96Sc.286G>ASubstitution - Missense
ATG9AENSG00000198925ENST00000396761p.A119Tc.355G>ASubstitution - Missense
COL4A3ENSG00000169031ENST00000396578p.G1580Gc.4740A>TSubstitution - coding silent
IRS1ENSG00000169047ENST00000305123p.T1219Pc.3655A>CSubstitution - Missense
HJURPENSG00000123485ENST00000411486p.?c.496-1G>TUnknown
SLC41A3ENSG00000114544ENST00000383598p.R18Rc.54A>TSubstitution - coding silent
CDCP1ENSG00000163814ENST00000296129p.T550Nc.1649C>ASubstitution - Missense
CRHBPENSG00000145708ENST00000274368p.A82Tc.244G>ASubstitution - Missense
ENST00000238522p.S1510Lc.4529C>TSubstitution - Missense
FAM50BENSG00000145945ENST00000380274p.E172Gc.515A>GSubstitution - Missense
ENST00000398884_v68p.S9Nc.26G>ASubstitution - Missense
RELNENSG00000189056ENST00000343529p.G1979Sc.5935G>ASubstitution - Missense
CDKN2AENSG00000147889ENST00000304494p.H83Hc.249C>TSubstitution - coding silent
FAM104BENSG00000182518ENST00000332132p.N66Kc.198C>GSubstitution - Missense
FAM104BENSG00000182518ENST00000425133p.N66Kc.198C>GSubstitution - Missense
HDAC8ENSG00000147099ENST00000373573p.I94Tc.281T>CSubstitution - Missense
ZNF736ENSG00000234444ENST00000355095p.T335Tc.1005T>CSubstitution - coding silent
ZNF253ENSG00000256771ENST00000355650p.G364*c.1090G>TSubstitution - Nonsense
ZNF736ENSG00000234444ENST00000355095p.G336*c.1006G>TSubstitution - Nonsense
CILP2ENSG00000160161ENST00000291495p.G573Gc.1719C>TSubstitution - coding silent
KLC3ENSG00000104892ENST00000391946p.?c.560-6A>CUnknown
GOLGB1ENSG00000173230ENST00000340645p.L931Fc.2791C>TSubstitution - Missense
STXBP5LENSG00000145087ENST00000273666p.V193Ic.577G>ASubstitution - Missense
TOPBP1ENSG00000163781ENST00000260810p.R121fs*6c.361_362insAInsertion - Frameshift
NM_007027.2p.R34fs*6c.100_101insAInsertion - Frameshift
CPNE4ENSG00000196353ENST00000512332p.R518Rc.1552C>ASubstitution - coding silent
RASA2ENSG00000155903ENST00000286364p.L401fs*9c.1199delCDeletion - Frameshift
SPSB4ENSG00000175093ENST00000310546p.A248Tc.742G>ASubstitution - Missense
FGAENSG00000171560ENST00000302053p.S501Sc.1503T>CSubstitution - coding silent
SH3BP2ENSG00000087266ENST00000356331p.H242Hc.726C>TSubstitution - coding silent
VCANENSG00000038427ENST00000265077p.D1298Ec.3894C>ASubstitution - Missense
PCSK1ENSG00000175426ENST00000311106p.?c.1884+1G>AUnknown
L3MBTL4ENSG00000154655ENST00000400105p.V305Lc.913G>TSubstitution - Missense
MBPENSG00000197971ENST00000355994p.R88Hc.263G>ASubstitution - Missense
ZNF451ENSG00000112200ENST00000370706p.P597Pc.1791G>ASubstitution - coding silent
ZNF451ENSG00000112200ENST00000357489p.P597Pc.1791G>ASubstitution - coding silent
PLEKHH1ENSG00000054690ENST00000329153p.?c.3686+10C>TUnknown
GBP6ENSG00000183347ENST00000370456p.E369Ec.1107G>ASubstitution - coding silent
PPP2R5CENSG00000078304ENST00000334743p.A364Ac.1092G>ASubstitution - coding silent
NM_022459.3p.A854Ac.2562C>GSubstitution - coding silent
SPATA13ENSG00000182957ENST00000343003p.A35Ac.105A>TSubstitution - coding silent
IL7RENSG00000168685ENST00000303115p.L248Fc.744G>CSubstitution - Missense
EGFLAMENSG00000164318ENST00000354891p.P64Pc.192C>TSubstitution - coding silent
EGFLAMENSG00000164318ENST00000322350p.P64Pc.192C>TSubstitution - coding silent
CRHR1ENSG00000120088ENST00000314537p.?c.122-2A>GUnknown
MUC16ENSG00000181143ENST00000397910p.S7287Sc.21861C>TSubstitution - coding silent
ENST00000331986p.S2920Sc.8760C>TSubstitution - coding silent
ENST00000331986p.S967Pc.2899T>CSubstitution - Missense
RRBP1ENSG00000125844ENST00000377813p.L1332Pc.3995T>CSubstitution - Missense
MYO1BENSG00000128641ENST00000392318p.Y618*c.1854C>ASubstitution - Nonsense
ERBB4ENSG00000178568ENST00000402597p.T916Tc.2748G>ASubstitution - coding silent
SNTG1ENSG00000147481ENST00000518864p.S189Sc.567G>ASubstitution - coding silent
WNK2ENSG00000165238ENST00000297954p.P806Pc.2418C>TSubstitution - coding silent
SU_WNK2p.P792Pc.2376C>TSubstitution - coding silent
DRG2ENSG00000108591ENST00000225729p.W336Lc.1007G>TSubstitution - Missense
UBE2OENSG00000175931ENST00000319380p.Q300Rc.899A>GSubstitution - Missense
XM_290732.4p.S1068Lc.3203C>TSubstitution - Missense
ZNF91ENSG00000167232ENST00000300619p.C29Yc.86G>ASubstitution - Missense
ENST00000374375_v68p.L202Qc.605T>ASubstitution - Missense
NECAB3ENSG00000125967ENST00000246190p.L238Lc.714C>TSubstitution - coding silent
ENST00000237536_v68p.V291Vc.873G>CSubstitution - coding silent
SOGA1ENSG00000149639ENST00000279034p.V53Vc.159G>CSubstitution - coding silent
ZNFX1ENSG00000124201ENST00000371752p.T1155Nc.3464C>ASubstitution - Missense
ZC3HC1ENSG00000091732ENST00000358303p.P29Sc.85C>TSubstitution - Missense
CACNA1DENSG00000157388ENST00000350061p.E451Qc.1351G>CSubstitution - Missense
FLNBENSG00000136068ENST00000295956p.V2185Mc.6553G>ASubstitution - Missense
ERC2ENSG00000187672ENST00000288221p.S337Fc.1010C>TSubstitution - Missense
DOCK5ENSG00000147459ENST00000276440p.G1698Gc.5094C>TSubstitution - coding silent
EGR3ENSG00000179388ENST00000317216p.K267Kc.801G>ASubstitution - coding silent
PIWIL2ENSG00000197181ENST00000356766p.F777Vc.2329T>GSubstitution - Missense
MARCH10ENSG00000173838ENST00000311269p.T191Tc.573T>GSubstitution - coding silent
SCN4AENSG00000007314ENST00000435607p.I125Nc.374T>ASubstitution - Missense
LRRC37A3ENSG00000176809ENST00000319651p.I1019Ic.3057C>TSubstitution - coding silent
CBX4ENSG00000141582ENST00000269397p.L188Vc.562C>GSubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.K1209Ec.3625A>GSubstitution - Missense
FASNENSG00000169710ENST00000306749p.T2376Mc.7127C>TSubstitution - Missense
TBCDENSG00000141556ENST00000355528p.?c.1319-4C>TUnknown
ROBO1ENSG00000169855ENST00000495273p.V94Lc.280G>TSubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.V133Lc.397G>TSubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.V133Lc.397G>TSubstitution - Missense
OLIG2ENSG00000205927ENST00000382357p.S41Lc.122C>TSubstitution - Missense
ATP8A1ENSG00000124406ENST00000264449p.T739Pc.2215A>CSubstitution - Missense
GABRA4ENSG00000109158ENST00000264318p.G112Sc.334G>ASubstitution - Missense
HYAL3ENSG00000186792ENST00000336307p.D161Nc.481G>ASubstitution - Missense
CAMKVENSG00000164076ENST00000477224p.R92Cc.274C>TSubstitution - Missense
TRPV5ENSG00000127412ENST00000265310p.A507Ac.1521G>ASubstitution - coding silent
PRSS1ENSG00000204983ENST00000311737p.V25Vc.75T>CSubstitution - coding silent
BAIAP2L1ENSG00000006453ENST00000005260p.N42fs*19c.125_126insAInsertion - Frameshift
MSCENSG00000178860ENST00000325509p.R15fs*29c.42_43insGInsertion - Frameshift
ENSG00000182319ENST00000330777p.D1069Dc.3207C>TSubstitution - coding silent
ENST00000544929p.A116Ac.348G>ASubstitution - coding silent
NM_020654.2p.?c.1121-7G>AUnknown
ABI3BPENSG00000154175ENST00000471714p.R245Gc.733A>GSubstitution - Missense
ENST00000398685p.P368Pc.1104C>TSubstitution - coding silent
SIGLEC6ENSG00000105492ENST00000346477p.R90Rc.268A>CSubstitution - coding silent
MBENSG00000198125ENST00000397326p.G16Rc.46G>ASubstitution - Missense
MBENSG00000198125ENST00000447607p.G16Rc.46G>ASubstitution - Missense
CAPN13ENSG00000162949ENST00000295055p.P424Tc.1270C>ASubstitution - Missense
TNK2ENSG00000061938ENST00000381916p.R250Qc.749G>ASubstitution - Missense
TNK2ENSG00000061938ENST00000333602p.R187Qc.560G>ASubstitution - Missense
ALPK3ENSG00000136383ENST00000258888p.R1211Qc.3632G>ASubstitution - Missense
ZSCAN2ENSG00000176371ENST00000448803p.R346Qc.1037G>ASubstitution - Missense
NUMA1ENSG00000137497ENST00000393695p.E145Qc.433G>CSubstitution - Missense
ENSG00000187811ENST00000343767p.R14Hc.41G>ASubstitution - Missense
ENST00000343767_v68p.R14Hc.41G>ASubstitution - Missense
CAPN5ENSG00000149260ENST00000278559p.R415Qc.1244G>ASubstitution - Missense
MS4A8ENSG00000166959ENST00000300226p.C212Sc.635G>CSubstitution - Missense
ENST00000355911p.I147Ic.441C>TSubstitution - coding silent
AHNAKENSG00000124942ENST00000378024p.D3061Gc.9182A>GSubstitution - Missense
OR10A2ENSG00000170790ENST00000307322p.I184Mc.552C>GSubstitution - Missense
ZNF215ENSG00000149054ENST00000278319p.P160Sc.478C>TSubstitution - Missense
ENST00000432996p.R140Qc.419G>ASubstitution - Missense
A2MENSG00000175899ENST00000318602p.?c.1702-1G>TUnknown
CLYBLENSG00000125246ENST00000416504p.T19Tc.57T>CSubstitution - coding silent
ZDHHC6ENSG00000023041ENST00000369405p.I183Ic.549C>TSubstitution - coding silent
PPAPDC1AENSG00000203805ENST00000398250p.V212Ic.634G>ASubstitution - Missense
SLC5A8ENSG00000256870ENST00000536262p.Q548Qc.1644G>ASubstitution - coding silent
ENST00000237841p.E192Qc.574G>CSubstitution - Missense
NELL2ENSG00000184613ENST00000429094p.T55Mc.164C>TSubstitution - Missense
NELL2ENSG00000184613ENST00000437801p.C739Rc.2215T>CSubstitution - Missense
GTF3AENSG00000122034ENST00000381140p.?c.874-1G>TUnknown
SYNCENSG00000162520ENST00000409190p.T476Rc.1427C>GSubstitution - Missense
PRDM16ENSG00000142611ENST00000270722p.T61Ic.182C>TSubstitution - Missense
DDI2ENSG00000197312ENST00000480945p.D70Dc.210C>TSubstitution - coding silent
IFITM10ENSG00000244242ENST00000340134p.R124Qc.371G>ASubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.R589Hc.1766G>ASubstitution - Missense
RGL1ENSG00000143344ENST00000304685p.L557Vc.1669C>GSubstitution - Missense
ARHGAP20ENSG00000137727ENST00000260283p.R985Wc.2953C>TSubstitution - Missense
NM_207429.2p.D39Dc.117C>TSubstitution - coding silent
BCL9ENSG00000116128ENST00000234739p.Q250*c.748C>TSubstitution - Nonsense
NEBLENSG00000078114ENST00000377122p.D272Gc.815A>GSubstitution - Missense
SVILENSG00000197321ENST00000355867p.D2161Nc.6481G>ASubstitution - Missense
MYO3AENSG00000095777ENST00000265944p.E753Gc.2258A>GSubstitution - Missense
ADAM21ENSG00000139985ENST00000267499p.R96Hc.287G>ASubstitution - Missense
IFT43ENSG00000119650ENST00000238628p.L83Lc.249G>TSubstitution - coding silent
XYLT2ENSG00000015532ENST00000017003p.D850Nc.2548G>ASubstitution - Missense
PYGMENSG00000068976ENST00000164139p.R50Qc.149G>ASubstitution - Missense
HIVEP3ENSG00000127124ENST00000372583p.P2143Pc.6429C>TSubstitution - coding silent
PTPRFENSG00000142949ENST00000359947p.Y1676Yc.5028C>TSubstitution - coding silent
ATP1A1ENSG00000163399ENST00000295598p.T760Nc.2279C>ASubstitution - Missense
FLGENSG00000143631ENST00000368799p.R3320Hc.9959G>ASubstitution - Missense
ELL3ENSG00000128886ENST00000319359p.E330Qc.988G>CSubstitution - Missense
FBN1ENSG00000166147ENST00000316623p.G642Gc.1926A>TSubstitution - coding silent
PRKAA2ENSG00000162409ENST00000371244p.T221Mc.662C>TSubstitution - Missense
ACOT11ENSG00000162390ENST00000371316p.F292Vc.874T>GSubstitution - Missense
ACOT11ENSG00000162390ENST00000343744p.F292Vc.874T>GSubstitution - Missense
GPR137CENSG00000180998ENST00000321662p.?c.1041+9T>CUnknown
ITPR2ENSG00000123104ENST00000381340p.L2482Pc.7445T>CSubstitution - Missense
IQSEC3ENSG00000120645ENST00000538872p.E936Qc.2806G>CSubstitution - Missense
FGD4ENSG00000139132ENST00000427716p.V492Lc.1474G>TSubstitution - Missense
FGD4ENSG00000139132ENST00000381025p.V244Lc.730G>TSubstitution - Missense
LCE1EENSG00000186226ENST00000368771p.G49Rc.145G>ASubstitution - Missense
SHC1ENSG00000160691ENST00000448116p.A381Vc.1142C>TSubstitution - Missense
SHC1ENSG00000160691ENST00000368453p.A271Vc.812C>TSubstitution - Missense
CDK18ENSG00000117266ENST00000429964p.A391Vc.1172C>TSubstitution - Missense
C11orf16ENSG00000176029ENST00000326053p.L64Ic.190C>ASubstitution - Missense
DNAH10ENSG00000197653ENST00000409039p.L1182Hc.3545T>ASubstitution - Missense
MPHOSPH9ENSG00000051825ENST00000541076p.P742Pc.2226G>ASubstitution - coding silent
MMP17ENSG00000198598ENST00000360564p.Y280Yc.840C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313382p.P63Hc.188C>ASubstitution - Missense
ENST00000329206p.E332Ec.996G>ASubstitution - coding silent
ZNF683ENSG00000176083ENST00000374204p.E347Ec.1041G>ASubstitution - coding silent
KANK4ENSG00000132854ENST00000371153p.R471Cc.1411C>TSubstitution - Missense
PLEKHH1ENSG00000054690ENST00000329153p.?c.3569+10C>TUnknown
TP53ENSG00000141510ENST00000269305p.R273Hc.818G>ASubstitution - Missense
NM_006218.1p.E545Kc.1633G>ASubstitution - Missense
NTRK1ENSG00000198400ENST00000524377p.V634Vc.1902C>TSubstitution - coding silent
SCAMP3ENSG00000116521ENST00000302631p.R5Tc.14G>CSubstitution - Missense
CCDC60ENSG00000183273ENST00000327554p.R131Hc.392G>ASubstitution - Missense
PIK3CAENSG00000121879ENST00000263967p.E545Kc.1633G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R273Hc.818G>ASubstitution - Missense
CHD4ENSG00000111642ENST00000357008p.R1105Wc.3313C>TSubstitution - Missense
GRXCR1ENSG00000215203ENST00000399770p.R262*c.784C>TSubstitution - Nonsense
KMT2CENSG00000055609ENST00000355193p.A286Ec.857C>ASubstitution - Missense
IL10ENSG00000136634ENST00000423557p.A107Ac.321G>ASubstitution - coding silent
TGM4ENSG00000163810ENST00000296125p.T82Mc.245C>TSubstitution - Missense
BPIFA1ENSG00000198183ENST00000375422p.T96Mc.287C>TSubstitution - Missense
BANK1ENSG00000153064ENST00000322953p.R515*c.1543C>TSubstitution - Nonsense
KRT31ENSG00000094796ENST00000251645p.N376Nc.1128C>TSubstitution - coding silent
TSSK1BENSG00000212122ENST00000390666p.A39Ac.117G>ASubstitution - coding silent
ZNF274ENSG00000171606ENST00000345813p.R420Cc.1258C>TSubstitution - Missense
PEG3ENSG00000198300ENST00000326441p.A1402Ac.4206C>TSubstitution - coding silent
PEG3ENSG00000198300ENST00000423103p.A1402Ac.4206C>TSubstitution - coding silent
OVCH1ENSG00000187950ENST00000318184p.I575Ic.1725C>ASubstitution - coding silent
CPZENSG00000109625ENST00000360986p.R115Cc.343C>TSubstitution - Missense
TGS1ENSG00000137574ENST00000260129p.I720Ic.2160C>TSubstitution - coding silent
ERBB4ENSG00000178568ENST00000342788p.T926Tc.2778G>ASubstitution - coding silent
COL6A3ENSG00000163359ENST00000295550p.N977Nc.2931C>TSubstitution - coding silent
NM_006596.3p.R2582Hc.7745G>ASubstitution - Missense
XKR6ENSG00000171044ENST00000416569p.T542Tc.1626G>ASubstitution - coding silent
LIMK2ENSG00000182541ENST00000340552p.R182Hc.545G>ASubstitution - Missense
LIMK2ENSG00000182541ENST00000331728p.R203Hc.608G>ASubstitution - Missense
ENST00000378416p.G87fs*20c.259_284del26Deletion - Frameshift
GLRA2ENSG00000101958ENST00000218075p.R366Hc.1097G>ASubstitution - Missense
GLRA2ENSG00000101958ENST00000355020p.R366Hc.1097G>ASubstitution - Missense
TP53ENSG00000141510ENST00000455263p.R273Hc.818G>ASubstitution - Missense
MAPK7ENSG00000166484ENST00000308406p.R392Cc.1174C>TSubstitution - Missense
KCNJ12ENSG00000184185ENST00000331718p.R120Hc.359G>ASubstitution - Missense
ENST00000344371p.R133Sc.397C>ASubstitution - Missense
TESPA1ENSG00000135426ENST00000449076p.S203Fc.608C>TSubstitution - Missense
TESPA1ENSG00000135426ENST00000316577p.S65Fc.194C>TSubstitution - Missense
ENOX1ENSG00000120658ENST00000261488p.R395Hc.1184G>ASubstitution - Missense
KBTBD6ENSG00000165572ENST00000379485p.P637Rc.1910C>GSubstitution - Missense
ESDENSG00000139684ENST00000378720p.C45Yc.134G>ASubstitution - Missense
CPB2ENSG00000080618ENST00000181383p.T361Ac.1081A>GSubstitution - Missense
USP30ENSG00000135093ENST00000257548p.T335Mc.1004C>TSubstitution - Missense
ATXN2ENSG00000204842ENST00000377617p.L1198Pc.3593T>CSubstitution - Missense
CDC14AENSG00000079335ENST00000336454p.N123Tc.368A>CSubstitution - Missense
ANKRD30AENSG00000148513ENST00000361713p.A328Tc.982G>ASubstitution - Missense
KCNMA1ENSG00000156113ENST00000404857p.R871Qc.2612G>ASubstitution - Missense
KCNMA1ENSG00000156113ENST00000406533p.R892Qc.2675G>ASubstitution - Missense
ITIH5ENSG00000123243ENST00000256861p.S194Sc.582C>TSubstitution - coding silent
ITIH5ENSG00000123243ENST00000397145p.S194Sc.582C>TSubstitution - coding silent
ITIH5ENSG00000123243ENST00000397146p.S194Sc.582C>TSubstitution - coding silent
ENST00000349637p.T4289Tc.12867C>TSubstitution - coding silent
IQGAP3ENSG00000183856ENST00000361170p.A1124Sc.3370G>TSubstitution - Missense
CELA2AENSG00000142615ENST00000359621p.V251Ic.751G>ASubstitution - Missense
PYHIN1ENSG00000163564ENST00000368135p.S210Sc.630C>TSubstitution - coding silent
ENST00000368148p.Q688Qc.2064G>ASubstitution - coding silent
METTL21BENSG00000123427ENST00000300209p.P8Sc.22C>TSubstitution - Missense
RASSF9ENSG00000198774ENST00000361228p.P92Sc.274C>TSubstitution - Missense
RASSF9ENSG00000198774ENST00000361228p.P92Sc.274C>TSubstitution - Missense
EPHA8ENSG00000070886ENST00000374644p.E424Kc.1270G>ASubstitution - Missense
LRTM2ENSG00000166159ENST00000299194p.P285Sc.853C>TSubstitution - Missense
CHRNB4ENSG00000117971ENST00000261751p.S417Pc.1249T>CSubstitution - Missense
KLHL25ENSG00000183655ENST00000337975p.D103Gc.308A>GSubstitution - Missense
ALPK3ENSG00000136383ENST00000258888p.R1211Qc.3632G>ASubstitution - Missense


COSMIC

1 mutations reported
0 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
BRAFENSG00000157764ENST00000288602p.G596Rc.1786G>CSubstitution - Missense12068308