E9PQ55 · E9PQ55_HUMAN

Variants

1675101520253035404550556065
MRTQVYEGLCKNYFSLAVLQRDRIKLLFFDILVFLSVFLLFLLFLVDIMANNTTSLGSPWPENFWGS
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs13208787432R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
COSV65891270
rs773225210
2R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Likely benign (Ensembl)NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV100924092
rs2099720679
3T>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
rs20997206814Q>*Ensembl
TCGA novel
rs2099720682
5V>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
gnomAD
COSV65890840
rs371405578
6Y>Fcosmic curated
ESP
ExAC
TOPMed
gnomAD
COSV658912907E>Vcosmic curated
COSV1061100478G>Ecosmic curated
rs12625723048G>VgnomAD
rs1996660469L>MESP
ExAC
TOPMed
gnomAD
COSV6589158610C>Fcosmic curated
rs120143921511K>*gnomAD
rs36775326511K>NExAC
gnomAD
rs120143921511K>QgnomAD
COSV6589165511K>Tcosmic curated
rs53142144512N>S1000Genomes
ExAC
gnomAD
rs53142144512N>T1000Genomes
ExAC
gnomAD
rs115968032113Y>CgnomAD
COSV6589123614F>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs131330777014F>YTOPMed
gnomAD
rs37550146315S>FESP
ExAC
TOPMed
gnomAD
rs76472101315S>TEnsembl
COSV6589195215S>Ycosmic curated
COSV10529650516L>Fcosmic curated
COSV10092406816L>Icosmic curated
rs74991923416L>VExAC
gnomAD
rs212906734118V>AEnsembl
rs76593045618V>IExAC
TOPMed
gnomAD
rs75372880719L>PExAC
gnomAD
rs137804935420Q>*gnomAD
rs135045210620Q>PTOPMed
gnomAD
COSV6589176821R>Icosmic curated
rs75473462721R>KExAC
TOPMed
gnomAD
COSV10746561521R>Tcosmic curated
rs19976062122D>EExAC
TOPMed
gnomAD
rs54973804322D>G1000Genomes
ExAC
TOPMed
gnomAD
rs135132567122D>YgnomAD
rs209972069423R>ITOPMed
rs141357934824I>FTOPMed
gnomAD
rs141357934824I>LTOPMed
gnomAD
rs75828950724I>NExAC
TOPMed
gnomAD
rs75828950724I>TExAC
TOPMed
gnomAD
COSV10529650724I>Vcosmic curated
rs77788123127L>IExAC
gnomAD
rs209972069628F>LEnsembl
rs56821782029F>L1000Genomes
ExAC
TOPMed
gnomAD
rs77125196229F>SExAC
TOPMed
gnomAD
COSV100924046
rs201979543
30D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
1000Genomes
TOPMed
dbSNP
gnomAD
rs20197954330D>Y1000Genomes
TOPMed
gnomAD
rs115856167531I>LgnomAD
rs115856167531I>VgnomAD
rs209972069933V>GEnsembl
rs36876766033V>IESP
ExAC
gnomAD
COSV10651761735L>Hcosmic curated
COSV6589166235L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV6589180737V>Acosmic curated
rs77595979938F>CExAC
gnomAD
COSV10092402538F>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV10092409839L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs209972070139L>HEnsembl
rs209972070340L>FgnomAD
rs76467331640L>PExAC
gnomAD
rs209972070441F>CgnomAD
rs77291290542L>FExAC
gnomAD
rs148359492242L>PTOPMed
rs148359492242L>RTOPMed
COSV6589077943L>Pcosmic curated
rs209972070545L>PTOPMed
COSV6589092546V>Lcosmic curated
rs7429661347D>AExAC
gnomAD
rs209972070647D>FEnsembl
COSV100924081
COSV100924081,COSV65891341
COSV65891341
47D>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV100924081
COSV100924081,COSV65891341
COSV65891341
47D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs209972070747D>YTOPMed
COSV65892101
rs1369702765
48I>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs209972070949M>IEnsembl
rs75344601149M>KExAC
gnomAD
rs75344601149M>TExAC
gnomAD
rs75460916450A>PExAC
gnomAD
rs129370430050A>VEnsembl
rs75245585351N>KExAC
gnomAD
rs14933475051N>SESP
ExAC
TOPMed
gnomAD
rs209972071052N>KEnsembl
COSV10092404152N>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV10592151353T>Icosmic curated
rs14164086054T>A1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs77768477354T>IExAC
gnomAD
rs56563321555S>C1000Genomes
ExAC
gnomAD
COSV65890731
COSV65890731,COSV65891152
COSV65891152
55S>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs20069632055S>I1000Genomes
ExAC
TOPMed
gnomAD
rs20069632055S>N1000Genomes
ExAC
TOPMed
gnomAD
COSV65890731
COSV65890731,COSV65891152
COSV65891152
55S>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs20069632055S>T1000Genomes
ExAC
TOPMed
gnomAD
COSV10746561156L>Vcosmic curated
COSV6589124057G>Acosmic curated
COSV100924082
COSV65891240
rs1031652406
57G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
COSV10092408457G>Wcosmic curated
rs142386796158S>CgnomAD
COSV108217404
rs1304070149
59P>Acosmic curated
TOPMed
COSV6589134260W>*cosmic curated
rs209972071460W>RTOPMed
COSV6589209662E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1172365837
COSV100924079
COSV100924079,COSV100924102,COSV65890989
COSV100924102
COSV65890989
63N>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
gnomAD
NCI-TCGA Cosmic
cosmic curated
COSV65890989
rs1397723133
63N>Kcosmic curated
gnomAD
rs146488783964F>*gnomAD
COSV100924103
COSV100924103,COSV65891763
COSV65891763
64F>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs158396010864F>LTOPMed
rs142863682064F>STOPMed
gnomAD
COSV100924103
COSV100924103,COSV65891763
COSV65891763
64F>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV100924099
rs911548436
65W>Ccosmic curated
Ensembl
rs55771259765W>L1000Genomes
ExAC
rs77002944366G>RExAC
gnomAD
COSV6589131866G>Wcosmic curated
rs209972494468*>RTOPMed
gnomAD
rs54700086868*>W1000Genomes
ExAC
TOPMed
gnomAD
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