Q8NE63 · HIPK4_HUMAN

  • Protein
    Homeodomain-interacting protein kinase 4
  • Gene
    HIPK4
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

161650100150200250300350400450500550600
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs15996469392S>PEnsembl
rs15996469353T>ATOPMed
rs15996469353T>PTOPMed
rs15996469353T>STOPMed
rs7603194535Q>*ExAC
gnomAD
rs3703550415Q>HEnsembl
rs14453386645Q>PgnomAD
rs14453386645Q>RgnomAD
rs7608838366S>LExAC
TOPMed
gnomAD
rs20793808157E>VEnsembl
rs7736463368T>IExAC
TOPMed
gnomAD
rs20793807179D>ATOPMed
gnomAD
rs7699934999D>NExAC
TOPMed
gnomAD
rs37459267310C>SESP
ExAC
TOPMed
gnomAD
rs55866099510C>W1000Genomes
ExAC
TOPMed
gnomAD
COSV99397133
rs1364058769
12D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
rs207938057613I>FTOPMed
gnomAD
rs207938057613I>VTOPMed
gnomAD
rs37710760615E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs57011484217L>V1000Genomes
ExAC
gnomAD
TCGA novel18G>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV9939715220G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TCGA novel22F>L
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs207938042226A>DTOPMed
rs207938039128G>VTOPMed
rs76036867130R>QExAC
TOPMed
gnomAD
COSV99396657
rs763886506
30R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs19952740831R>Q1000Genomes
ExAC
TOPMed
gnomAD
COSV52520863
rs775166307
31R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs159964685232S>GEnsembl
rs159964684832S>REnsembl
rs76352689133T>MExAC
TOPMed
gnomAD
rs116239804634G>SgnomAD
rs74857331235E>KVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs74857331235E>QVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs77696193736M>IExAC
gnomAD
rs159964682737V>GEnsembl
rs159964682438A>GEnsembl
rs147749843339I>LgnomAD
rs207938005439I>MTOPMed
gnomAD
rs103010443740K>RTOPMed
rs76890763941I>LExAC
gnomAD
rs74719297041I>MVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs207937996943K>MTOPMed
gnomAD
rs207937994345D>NTOPMed
rs75835381346A>TExAC
TOPMed
gnomAD
rs207937986447Y>CEnsembl
rs74595381748R>CExAC
TOPMed
gnomAD
COSV52519807
rs778771912
48R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs19082734150R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs14666869650R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
dbSNP
gnomAD
rs14666869650R>LVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs128462510451I>NVariant of uncertain significance (Ensembl)gnomAD
rs116952414451I>VgnomAD
rs207937969152I>TgnomAD
rs75584900052I>VExAC
gnomAD
rs17853310
COSV52519019
53K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
gnomAD
NCI-TCGA Cosmic
rs122729594453K>REnsembl
COSV52518848
rs1568698585
55E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
Ensembl
dbSNP
TCGA novel59L>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs76571622160H>QExAC
TOPMed
gnomAD
rs207937951360H>RTOPMed
rs75106959160H>YExAC
TOPMed
gnomAD
rs146527818161C>YgnomAD
rs142180988962M>LgnomAD
rs126656649662M>TTOPMed
gnomAD
COSV52519145
rs1328912809
63R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
Ensembl
dbSNP
rs132891280963R>GEnsembl
COSV5252225863R>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs76228115663R>QExAC
TOPMed
gnomAD
rs207937936364G>DTOPMed
rs156869855564G>SEnsembl
rs77701099165L>VVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV5252567166D>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs118139568667P>HTOPMed
rs118998459168E>DgnomAD
rs104140892168E>KEnsembl
COSV5252404569E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs118522857169E>VgnomAD
rs214572125470A>DEnsembl
rs76090122170A>TExAC
TOPMed
gnomAD
TCGA novel71H>T
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
COSV99396228
rs775509708
72V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs207937917573I>LTOPMed
rs116082034773I>STOPMed
gnomAD
rs116082034773I>TTOPMed
gnomAD
rs36924807474R>CESP
ExAC
TOPMed
gnomAD
rs105724632074R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
rs105724632074R>LTOPMed
gnomAD
TCGA novel75F>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs77901956176L>PExAC
TOPMed
gnomAD
COSV9939667077E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs135683438177E>QTOPMed
rs135024253778F>LTOPMed
gnomAD
rs91421670778F>VTOPMed
gnomAD
rs122538980980H>RTOPMed
gnomAD
rs77772111082A>PExAC
TOPMed
gnomAD
COSV52520339
rs777721110
82A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs37737784382A>VESP
TOPMed
gnomAD
rs146655492883L>FgnomAD
rs92682567684K>RTOPMed
gnomAD
rs78076841187L>VExAC
TOPMed
gnomAD
rs207937870890E>*TOPMed
rs37464036591L>MESP
TOPMed
rs75463995892L>MExAC
gnomAD
TCGA novel95N>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs125105869896L>FTOPMed
rs20028632698E>A1000Genomes
ExAC
TOPMed
gnomAD
COSV5252558998E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs124453944598E>QTOPMed
gnomAD
rs754287958102E>DExAC
gnomAD
rs762330541102E>GExAC
rs1253729226104N>TgnomAD
COSV99397053105F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1599646646105F>SEnsembl
rs34434715106A>PExAC
TOPMed
gnomAD
VAR_040554
rs34434715
106A>T
UniProt
ExAC
TOPMed
dbSNP
gnomAD
rs79236726106A>V1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs75999496108L>PExAC
gnomAD
rs2079378364109P>STOPMed
gnomAD
rs747946015110A>PExAC
TOPMed
gnomAD
rs747946015110A>TExAC
TOPMed
gnomAD
rs1030401738111R>CTOPMed
gnomAD
rs1026949470111R>HTOPMed
gnomAD
rs781013832114R>CExAC
TOPMed
gnomAD
rs962058548114R>HTOPMed
rs996806991115T>RTOPMed
rs751175620117T>IExAC
gnomAD
TCGA novel117T>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV99396956118L>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TCGA novel119Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs757837797122T>AExAC
gnomAD
rs2145721124122T>REnsembl
rs142915464123A>VESP
gnomAD
TCGA novel124L>P
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
COSV52520411125A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs753035027126R>QExAC
gnomAD
rs144825243126R>WVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs767870024127L>FExAC
gnomAD
rs371633633129E>QESP
ExAC
TOPMed
gnomAD
rs1477615632131A>STOPMed
rs1246292512133I>VEnsembl
TCGA novel134H>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs2079377780135A>VTOPMed
rs1468373327142I>TgnomAD
rs2079377663143M>TEnsembl
rs903243596145V>AEnsembl
rs769896103148T>IExAC
TOPMed
gnomAD
rs769896103148T>NExAC
TOPMed
gnomAD
rs1599646534148T>PEnsembl
rs748082189149R>CExAC
TOPMed
gnomAD
rs776313176149R>HExAC
TOPMed
gnomAD
rs776313176149R>LExAC
TOPMed
gnomAD
rs1172093641150C>YgnomAD
rs1348494874151P>LTOPMed
gnomAD
rs2079377421154V>ATOPMed
TCGA novel156V>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1599643843156V>GEnsembl
rs1325764906157I>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
COSV99396375158D>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV52525404
rs2079351953
160G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
Ensembl
rs756715560162A>PExAC
TOPMed
gnomAD
COSV52521494163S>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1483890261163S>RTOPMed
rs2079351831163S>RTOPMed
rs755420431164I>SExAC
TOPMed
gnomAD
rs755420431164I>TExAC
TOPMed
gnomAD
rs200937693164I>V1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1328891678166S>CTOPMed
gnomAD
rs1328891678166S>RTOPMed
gnomAD
rs2079351730166S>TTOPMed
rs780526664167E>*ExAC
gnomAD
rs1599643814168V>GEnsembl
rs2079351664168V>MgnomAD
rs1171547119169R>CgnomAD
COSV52523374
rs201085696
169R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
rs201085696169R>PTOPMed
gnomAD
rs1474702512170Y>HTOPMed
rs765240481171V>AExAC
gnomAD
rs765240481171V>GExAC
gnomAD
VAR_040555
rs55964225
171V>M
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs762023461172K>TExAC
TOPMed
gnomAD
rs2079351468174P>TgnomAD
rs2079351452176I>LTOPMed
gnomAD
rs2079351415178S>*Ensembl
TCGA novel178S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs2079351382179R>C1000Genomes
TOPMed
rs764129980179R>HExAC
TOPMed
gnomAD
COSV52520798
rs764129980
179R>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs764129980179R>PExAC
TOPMed
gnomAD
rs2079351292182R>QEnsembl
rs767356290182R>WTOPMed
gnomAD
COSV99396699183A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV52519235184P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1387617697184P>RTOPMed
gnomAD
COSV99397111185E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1241260301189G>RTOPMed
gnomAD
rs1241260301189G>WTOPMed
gnomAD
rs1324801852190L>PEnsembl
rs2079351134191P>ATOPMed
rs2079351116191P>LEnsembl
rs771792535192F>VExAC
gnomAD
rs759191946193C>RExAC
gnomAD
rs748876993198V>MExAC
TOPMed
gnomAD
COSV52520080199W>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1240189178200S>FgnomAD
rs777117806201L>PExAC
TOPMed
gnomAD
rs143873993203C>*1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV52521251
rs757043623
204V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs2079350855205M>TgnomAD
rs780579566206A>VExAC
gnomAD
rs1599643728209H>PEnsembl
rs2079350804209H>YEnsembl
TCGA novel210L>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs2079350772211G>DEnsembl
rs1473878008213P>LgnomAD
rs2145717926214L>FEnsembl
rs1186866702216P>ATOPMed
gnomAD
rs2079350676216P>REnsembl
rs1186866702216P>STOPMed
gnomAD
rs2079350592217G>DTOPMed
rs750816448217G>RExAC
rs779255747218N>KExAC
TOPMed
gnomAD
rs150436293219N>KESP
ExAC
TOPMed
gnomAD
rs753979656220E>DExAC
gnomAD
rs1034023576220E>KEnsembl
rs1353697202220E>VgnomAD
rs1003425015222D>HTOPMed
gnomAD
rs1003425015222D>NTOPMed
gnomAD
rs2079350362223Q>REnsembl
COSV52520308
rs752564037
225R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
COSV52520008
rs767437240
225R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs1298339321226Y>NgnomAD
rs759382507228C>YExAC
gnomAD
COSV52519009
rs2079350141
229E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
rs1599643644230T>PEnsembl
rs1017465649232G>STOPMed
gnomAD
COSV52523106233L>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2079350079233L>VTOPMed
rs770659093235K>*ExAC
gnomAD
rs762474104236P>TExAC
gnomAD
rs772802613237H>YExAC
gnomAD
COSV52520269238L>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs747527574238L>VExAC
TOPMed
gnomAD
rs2079349944240H>YgnomAD
rs2079349876241A>DTOPMed
rs780777730241A>TExAC
TOPMed
gnomAD
rs746295654242A>DExAC
TOPMed
gnomAD
COSV52520848
rs888213578
242A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
rs2145717809243C>REnsembl
rs2079349771243C>WgnomAD
rs749410438246H>QExAC
TOPMed
gnomAD
COSV99396459247H>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV52526248247H>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2145717797248F>LEnsembl
rs1349505835250K>RTOPMed
gnomAD
COSV52524404
rs756252191
251R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs756252191251R>G1000Genomes
ExAC
TOPMed
gnomAD
rs752760077251R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
dbSNP
gnomAD
rs756252191251R>S1000Genomes
ExAC
TOPMed
gnomAD
rs199630536252N>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
1000Genomes
ExAC
gnomAD
dbSNP
rs75602333252N>TEnsembl
rs920899826253P>LTOPMed
gnomAD
rs2079349559253P>TgnomAD
rs1466619079254H>NTOPMed
rs1599643584254H>PEnsembl
rs1466619079254H>YTOPMed
COSV52524957255P>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2079349447255P>LTOPMed
rs1298739960257A>DgnomAD
rs200561773257A>T1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1171426008258A>VgnomAD
rs1477550015259N>KgnomAD
rs1422037767260P>LgnomAD
rs2079349230263L>FTOPMed
rs944975576264K>EEnsembl
rs1193420779265S>FgnomAD
rs571026735266S>L1000Genomes
ExAC
TOPMed
gnomAD
rs772674739266S>TExAC
gnomAD
rs2079349076268D>GTOPMed
rs746309036269Y>HExAC
gnomAD
rs148038861271A>G1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs148038861271A>V1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs373462941272E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2079348963272E>VEnsembl
rs200281362273T>MVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200281362273T>RVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1354383095275V>LTOPMed
gnomAD
rs756981986276R>CExAC
TOPMed
gnomAD
rs756981986276R>GExAC
TOPMed
gnomAD
rs753471608276R>HExAC
TOPMed
gnomAD
rs1054277285278L>STOPMed
gnomAD
rs1382461701279E>*TOPMed
rs766833738279E>GExAC
gnomAD
rs763475952280R>CExAC
TOPMed
gnomAD
COSV52519635
rs773591468
280R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs770087997281R>CExAC
TOPMed
gnomAD
rs776906530281R>HExAC
TOPMed
gnomAD
rs776906530281R>LExAC
TOPMed
gnomAD
rs201281781282K>N1000Genomes
ExAC
TOPMed
gnomAD
rs1422952263283Y>CgnomAD
rs747112058283Y>HExAC
TOPMed
gnomAD
rs373642488284M>LESP
ExAC
TOPMed
gnomAD
rs771938025284M>TExAC
gnomAD
rs1488552842285L>FgnomAD
rs1262408848286K>RgnomAD
rs145519209287S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV52520597289D>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs757181826289D>NExAC
gnomAD
rs2079334455290Q>*TOPMed
rs2079334455290Q>ETOPMed
rs370183538290Q>HESP
TOPMed
rs2079334435290Q>RTOPMed
COSV99396456291I>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2079334390291I>VEnsembl
rs976136541293T>ATOPMed
gnomAD
rs2079334294294V>AEnsembl
rs2079334313294V>LTOPMed
rs140411181295N>SESP
TOPMed
gnomAD
rs772511144296G>DgnomAD
rs772511144296G>VgnomAD
rs140926477297G>S1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1298137538298S>GgnomAD
rs907995369298S>ITOPMed
rs907995369298S>NTOPMed
rs777338552298S>RExAC
TOPMed
gnomAD
rs144600040299V>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
rs144600040299V>EESP
ExAC
TOPMed
COSV52520793299V>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs752178632300A>DVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs752178632300A>GVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs11670988302R>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_030578
rs11670988
302R>QUniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs763464903302R>WExAC
TOPMed
gnomAD
rs1422747409303L>PgnomAD
RCV000881666
rs79330270
304T>IBenign (Ensembl, ClinVar)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs79330270304T>NBenign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs775458172305F>LExAC
rs1468175738306P>LgnomAD
rs745936286308R>QExAC
TOPMed
gnomAD
rs139337380308R>WVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
COSV52520701
rs774483576
310A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs770966226312A>GExAC
TOPMed
gnomAD
rs1386582968312A>TgnomAD
rs770966226312A>VExAC
TOPMed
gnomAD
rs755743447313E>DExAC
gnomAD
rs2079333568313E>KEnsembl
rs144871802314H>D1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1165703533314H>LgnomAD
rs144871802314H>Y1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2079333402315A>DEnsembl
rs1010853279315A>PTOPMed
gnomAD
rs1010853279315A>TTOPMed
gnomAD
COSV52523351
rs374741709
316D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs374741709316D>YESP
ExAC
TOPMed
gnomAD
rs1279885237318K>ETOPMed
COSV99396689
rs893696566
319S>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
rs1248325840320M>ITOPMed
rs1251304652321V>MgnomAD
rs867325766322E>KTOPMed
TCGA novel323L>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs2079333188323L>VEnsembl
rs1272334881325K>RTOPMed
gnomAD
rs371188356326R>CESP
ExAC
TOPMed
gnomAD
rs371188356326R>GESP
ExAC
TOPMed
gnomAD
rs760809424326R>HExAC
TOPMed
gnomAD
COSV52526682326R>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs371188356326R>SESP
ExAC
TOPMed
gnomAD
rs1257107914327M>ITOPMed
gnomAD
rs775846215328L>VExAC
gnomAD
rs767834907330W>GExAC
TOPMed
gnomAD
rs767834907330W>RExAC
TOPMed
gnomAD
rs1447032352331E>DgnomAD
rs567036647331E>G1000Genomes
ExAC
gnomAD
COSV104390948
rs1326236017
334E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
COSV52519286335R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1402753274335R>HTOPMed
gnomAD
rs1171935228336I>MTOPMed
gnomAD
rs1381928723339S>NgnomAD
rs527880457339S>R1000Genomes
ExAC
TOPMed
gnomAD
rs1440507712340A>VTOPMed
gnomAD
rs749185979343R>CExAC
TOPMed
gnomAD
rs772895580343R>HExAC
TOPMed
gnomAD
rs749185979343R>SExAC
TOPMed
gnomAD
rs769566712344H>PExAC
gnomAD
rs55869814344H>QBenign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs769566712344H>RExAC
gnomAD
rs2079332647345P>HTOPMed
rs368679795347V>LESP
ExAC
TOPMed
gnomAD
rs368679795347V>MESP
ExAC
TOPMed
gnomAD
TCGA novel348S>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs147334390348S>TVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs779503136349M>IExAC
TOPMed
gnomAD
rs2079332515351Q>*TOPMed
rs2079332475351Q>HTOPMed
rs757786495351Q>LExAC
gnomAD
rs754317067353R>CExAC
TOPMed
gnomAD
rs764500728353R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel357E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV52521541
rs767888140
357E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
ExAC
dbSNP
gnomAD
rs2079332246360H>QEnsembl
rs376803678360H>YESP
ExAC
TOPMed
gnomAD
rs1418876878361Y>HgnomAD
rs1157042287362Y>HgnomAD
rs1464240604363Q>*gnomAD
COSV52520602
COSV99397042
365S>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV52520602
COSV99397042
rs1473930178
365S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
COSV99397047365S>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs773268904367R>CExAC
TOPMed
gnomAD
rs372254628367R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1217731295368S>RgnomAD
rs1282683929369Y>CgnomAD
rs761717255369Y>HExAC
gnomAD
rs776262262370R>CExAC
gnomAD
COSV52519214
rs959035795
370R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
rs768332960371L>FExAC
TOPMed
gnomAD
rs1230944734371L>HgnomAD
rs768332960371L>VExAC
TOPMed
gnomAD
rs192823203372S>L1000Genomes
ExAC
TOPMed
gnomAD
rs745355164373L>PExAC
gnomAD
TCGA novel374Q>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1371970899375V>GTOPMed
rs778389824375V>LExAC
TOPMed
gnomAD
rs2079331740377G>WEnsembl
rs1407260544379P>AgnomAD
rs895580650379P>LEnsembl
rs1407260544379P>SgnomAD
rs756543762380P>SExAC
gnomAD
VAR_040556
rs55760165
381T>M
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2079331611381T>PTOPMed
rs2079331611381T>STOPMed
COSV99396315382P>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs763153397383V>FExAC
TOPMed
gnomAD
rs763153397383V>IExAC
TOPMed
gnomAD
rs765261216384V>M1000Genomes
ExAC
TOPMed
gnomAD
rs573926493385A>V1000Genomes
ExAC
TOPMed
gnomAD
VAR_040557
rs56365273
386A>T
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs760328588387E>KExAC
gnomAD
COSV52520945388D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2079331331391P>LgnomAD
rs771599017392Y>*ExAC
gnomAD
rs911410727392Y>HEnsembl
rs2079331261393Y>HTOPMed
rs145453056394C>RESP
ExAC
TOPMed
gnomAD
rs2079331193397E>KTOPMed
rs75693631398E>D1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1402537184398E>KgnomAD
rs1402537184398E>QgnomAD
rs900542114399K>ELikely benign (Ensembl)TOPMed
gnomAD
rs144819691400E>A1000Genomes
ExAC
TOPMed
gnomAD
rs2145715602401A>PEnsembl
rs780475269402A>GExAC
TOPMed
gnomAD
rs780475269402A>VExAC
TOPMed
gnomAD
rs2079330890403G>CTOPMed
gnomAD
rs2079330811404M>ITOPMed
rs546303663404M>KgnomAD
rs2079330857404M>VTOPMed
gnomAD
COSV52521820405G>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2079330795405G>REnsembl
rs750550390406S>NExAC
gnomAD
VAR_040558
RCV000959273
rs56094851
406S>R
Benign (Ensembl, ClinVar)UniProt
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs768637510407V>AgnomAD
rs140678043409G>RLikely benign (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs140678043409G>SLikely benign (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs764001974410S>GExAC
gnomAD
rs374274463411S>RESP
ExAC
TOPMed
gnomAD
rs150935653412P>LESP
ExAC
TOPMed
gnomAD
COSV52519079
rs1555799118
415R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
rs770960175415R>LExAC
TOPMed
gnomAD
rs770960175415R>QExAC
TOPMed
gnomAD
COSV52521710
rs2079330504
417E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
Ensembl
rs56117722421G>CBenign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_040559
RCV000966071
rs56117722
421G>S
Benign (Ensembl, ClinVar)UniProt
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1298782648425A>PgnomAD
rs1298782648425A>SgnomAD
rs2079330457426I>VEnsembl
CA174822
RCV000149343
rs193920880
427D>N
Malignant tumor of prostate (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1435946564428Q>*gnomAD
rs2079330391429L>MEnsembl
rs927662459430D>ETOPMed
gnomAD
rs148849368430D>HVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
COSV52521210431D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2079330297433S>TgnomAD
rs2079330270435Q>*TOPMed
rs548675375437A>T1000Genomes
ExAC
gnomAD
rs144382583438G>R1000Genomes
ExAC
TOPMed
gnomAD
rs1344797102440G>RTOPMed
gnomAD
rs746022577440G>VExAC
gnomAD
rs1347126238441L>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
rs2145715468442W>REnsembl
rs2079330079442W>STOPMed
gnomAD
rs866596162443G>DEnsembl
rs757350055444E>*ExAC
TOPMed
gnomAD
rs757350055444E>KExAC
TOPMed
gnomAD
rs753888671445T>AExAC
TOPMed
gnomAD
rs764054866445T>IExAC
gnomAD
rs1415902760446C>*TOPMed
gnomAD
rs752508778446C>RExAC
gnomAD
rs1304708196446C>YTOPMed
gnomAD
rs1375405206447T>SgnomAD
rs767158577448N>DExAC
gnomAD
rs2079329843448N>KEnsembl
rs367871526448N>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
dbSNP
gnomAD
rs201121603449A>E1000Genomes
ExAC
TOPMed
gnomAD
rs2079329824449A>TgnomAD
COSV52521230
rs201121603
449A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs772820387450V>AExAC
TOPMed
gnomAD
rs2079329743451S>TEnsembl
rs1485023480452D>ETOPMed
rs747472575452D>NExAC
TOPMed
gnomAD
rs2079329639455V>ATOPMed
gnomAD
rs2079329639455V>DTOPMed
gnomAD
rs551987675455V>F1000Genomes
ExAC
gnomAD
rs551987675455V>I1000Genomes
ExAC
gnomAD
rs1238342476456P>HgnomAD
rs2079329600456P>SEnsembl
rs1488490289457L>FTOPMed
gnomAD
rs746242632457L>PExAC
TOPMed
gnomAD
rs1488490289457L>VTOPMed
gnomAD
rs757436239459A>SExAC
gnomAD
rs757436239459A>TExAC
gnomAD
COSV52524657461I>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs749399323462T>NExAC
TOPMed
gnomAD
rs1407668175463G>DTOPMed
rs1355316393464H>QgnomAD
rs2079329337465H>YEnsembl
rs2145715381466V>MEnsembl
rs1334982807468D>ETOPMed
gnomAD
rs541882458468D>N1000Genomes
ExAC
TOPMed
gnomAD
rs200430830469S>L1000Genomes
ExAC
TOPMed
gnomAD
rs751347435470G>DExAC
gnomAD
TCGA novel472E>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1164949666474I>SgnomAD
COSV99396911475L>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2145715353475L>QEnsembl
rs1415107108476A>PTOPMed
gnomAD
rs2079329089476A>VEnsembl
rs2079329063478Y>HTOPMed
rs749976582480S>NExAC
TOPMed
gnomAD
rs2079328976480S>RTOPMed
VAR_040560
rs55801979
481R>C
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs752400189481R>HVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs752400189481R>LVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1599641275484G>AEnsembl
rs34251706484G>SEnsembl
COSV52519481
rs759855803
485R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs1220980290485R>HgnomAD
rs774733788486H>QExAC
rs1327574324486H>RgnomAD
rs1380910310489R>CgnomAD
rs1380910310489R>GgnomAD
rs771162709489R>HExAC
TOPMed
gnomAD
rs771162709489R>LExAC
TOPMed
gnomAD
rs372245283493A>EESP
ExAC
TOPMed
gnomAD
COSV99396664
rs2079328614
493A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
gnomAD
rs372245283493A>VESP
ExAC
TOPMed
gnomAD
rs748245677495S>CExAC
gnomAD
rs1462397050496K>QgnomAD
rs781040015497S>AExAC
TOPMed
gnomAD
rs2079328413498D>ETOPMed
rs116502794498D>N1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs750031687500N>KExAC
TOPMed
COSV99396516501F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2079328303501F>SEnsembl
rs970437287503N>HTOPMed
gnomAD
rs138395908504L>F1000Genomes
ExAC
rs2079328186505I>LEnsembl
rs754578230506R>WExAC
TOPMed
gnomAD
rs2079328118507L>PTOPMed
rs147737549508S>RESP
ExAC
TOPMed
gnomAD
rs753354451508S>TExAC
gnomAD
rs1251261258509Q>EgnomAD
rs760036906510V>FExAC
TOPMed
gnomAD
rs760036906510V>IExAC
TOPMed
gnomAD
rs774589219511S>LExAC
TOPMed
gnomAD
rs1314291306511S>PgnomAD
rs374330900512P>LESP
ExAC
TOPMed
gnomAD
rs1213540122512P>TVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs769980915513E>KExAC
TOPMed
gnomAD
rs1599641145517P>AEnsembl
rs1599641135518C>RgnomAD
rs557953855519R>Q1000Genomes
ExAC
TOPMed
gnomAD
rs573403377519R>W1000Genomes
ExAC
gnomAD
rs201533714520G>SESP
ExAC
TOPMed
gnomAD
COSV52525132521S>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs746908714522S>CExAC
gnomAD
rs1251398937522S>NgnomAD
rs780002750522S>RExAC
gnomAD
rs745650023523W>LExAC
TOPMed
gnomAD
rs202073264523W>R1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1599641103524E>GEnsembl
rs1599641093525E>GEnsembl
rs756081821526G>AEnsembl
rs756081821526G>EEnsembl
COSV52519462526G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs965183164528H>NTOPMed
gnomAD
rs145675612528H>RESP
ExAC
TOPMed
gnomAD
rs965183164528H>YTOPMed
gnomAD
rs2079327074529L>FEnsembl
rs755442837530G>RVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs755442837530G>WVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV52524376532S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2079326962532S>PEnsembl
rs1215837295534E>VTOPMed
gnomAD
rs139233352535P>SESP
ExAC
TOPMed
gnomAD
rs1271828913536L>RVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs773534482538I>FExAC
gnomAD
rs773534482538I>VExAC
gnomAD
COSV99397177540Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs765475342540Q>HExAC
gnomAD
COSV99396998
rs1210868555
541R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
rs762046319541R>PExAC
TOPMed
gnomAD
rs762046319541R>QExAC
TOPMed
gnomAD
rs776587901542D>EExAC
TOPMed
gnomAD
rs145930387542D>N1000Genomes
TOPMed
rs145930387542D>Y1000Genomes
TOPMed
rs150825946544D>AESP
ExAC
TOPMed
gnomAD
rs150825946544D>GESP
ExAC
TOPMed
gnomAD
rs768718132544D>HExAC
gnomAD
rs2079326426546P>LEnsembl
rs1470661257548I>TgnomAD
rs1160510562548I>VgnomAD
rs537706323551M>I1000Genomes
ExAC
gnomAD
rs1486909904552T>IgnomAD
rs201954765553M>LVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs748901840553M>TExAC
TOPMed
gnomAD
rs201954765553M>VVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs1382302405554E>QTOPMed
gnomAD
rs1399710922555A>TTOPMed
gnomAD
rs755706267556E>KExAC
gnomAD
rs755706267556E>QExAC
gnomAD
rs769299227557R>KExAC
gnomAD
rs769299227557R>TExAC
gnomAD
rs747687608558P>SExAC
TOPMed
gnomAD
rs747687608558P>TExAC
TOPMed
gnomAD
rs780632288559D>GExAC
gnomAD
COSV52521938559D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1280002049561E>GTOPMed
rs1599640522562L>VEnsembl
rs1599640512564D>AEnsembl
rs1475295510564D>ETOPMed
gnomAD
COSV52520756
rs779285376
564D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs1240791561565P>TgnomAD
rs2079320878566S>TTOPMed
rs757701990567S>GExAC
gnomAD
rs1468671999568C>*gnomAD
rs754133891571E>KExAC
gnomAD
rs764420480572W>*ExAC
TOPMed
gnomAD
rs764420480572W>CExAC
TOPMed
gnomAD
rs2079320761572W>SgnomAD
rs2079320739573L>PEnsembl
rs752834356574S>CExAC
gnomAD
rs752834356574S>GExAC
gnomAD
rs1599640485574S>REnsembl
rs2145714456575E>KEnsembl
rs767635822576P>TExAC
rs759681400577D>HExAC
gnomAD
rs774403063577D>VExAC
gnomAD
rs759681400577D>YExAC
gnomAD
COSV99396537578C>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2079320526578C>RTOPMed
gnomAD
rs2079320470579T>IEnsembl
rs938642424581E>KgnomAD
rs2079320349582S>CEnsembl
rs2079320349582S>GEnsembl
rs772842558583V>AExAC
gnomAD
rs772842558583V>DExAC
gnomAD
rs772842558583V>GExAC
gnomAD
rs199999966583V>ILikely benign (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs1417789572584R>SgnomAD
rs1488326660585G>STOPMed
rs1454406447586P>TTOPMed
gnomAD
rs953234208587R>QTOPMed
gnomAD
rs201051792587R>WExAC
TOPMed
gnomAD
rs2079319949590G>RTOPMed
rs1191132665590G>VTOPMed
gnomAD
rs74410183591L>PExAC
gnomAD
COSV99396781593P>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2079319705593P>SEnsembl
rs746510886594R>CExAC
TOPMed
gnomAD
rs1282146513594R>HTOPMed
gnomAD
rs1282146513594R>LTOPMed
gnomAD
rs573152386595R>C1000Genomes
ExAC
TOPMed
gnomAD
rs754264360595R>HExAC
TOPMed
gnomAD
rs754264360595R>LExAC
TOPMed
gnomAD
rs777937469597H>DExAC
rs753032584599H>QExAC
TOPMed
gnomAD
rs1298872306599H>YgnomAD
rs767836879600G>RExAC
TOPMed
gnomAD
rs751560528603R>GExAC
TOPMed
gnomAD
rs766371069603R>PExAC
TOPMed
gnomAD
COSV52526424
rs766371069
603R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs751560528603R>WExAC
TOPMed
gnomAD
rs762749547604G>EExAC
gnomAD
rs2079319087605A>TgnomAD
rs773073553605A>VExAC
TOPMed
TCGA novel609L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1468494370610Q>*gnomAD
rs2079318986610Q>HTOPMed
rs2079318965611H>REnsembl
rs926622496613T>STOPMed
rs374456621614G>EESP
ExAC
TOPMed
gnomAD
rs761593862614G>RExAC
TOPMed
gnomAD
rs1319000045616H>QTOPMed
gnomAD
rs750661100617*>SExAC
rs1177232315617*>STOPMed
gnomAD
COSV52519304
rs1379893490
617*>W
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
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