G5E948 · G5E948_HUMAN

  • Protein
    non-specific serine/threonine protein kinase
  • Gene
    MAP4K4
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    3/5

Variants

113841002003004005006007008009001,0001,1001,2001,300
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs3721997763N>K1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs7501777994D>GExAC
gnomAD
rs20352612756P>REnsembl
rs14220158806P>SgnomAD
COSV563438177A>Ecosmic curated
COSV1058768267A>Tcosmic curated
rs12196945448K>ETOPMed
gnomAD
rs20352679359S>NEnsembl
rs203527115011V>MTOPMed
rs52852697113I>L1000Genomes
ExAC
TOPMed
gnomAD
rs127290661814D>NTOPMed
gnomAD
rs203527907015L>FgnomAD
COSV5633724815L>Icosmic curated
COSV10015358616S>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV10015351116S>Ycosmic curated
rs133568383617S>YgnomAD
COSV10453442520D>Gcosmic curated
rs77521019822A>GExAC
gnomAD
COSV5632501122A>Vcosmic curated
COSV10453446223G>Wcosmic curated
COSV5634039524I>Scosmic curated
COSV10453444826E>Kcosmic curated
COSV5633168627L>Mcosmic curated
rs126370507227L>PgnomAD
rs76368236527L>VExAC
TOPMed
gnomAD
COSV5632762930V>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV5633643731V>Fcosmic curated
COSV5632453431V>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV5633055632G>Rcosmic curated
COSV10015469034G>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV10015335435T>Pcosmic curated
rs124761349636Y>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
COSV5632438337G>*cosmic curated
rs203594371640Y>CgnomAD
rs203594371640Y>FgnomAD
rs75535239840Y>HExAC
gnomAD
COSV10015530341K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV5632907642G>Scosmic curated
TCGA novel
rs2092727024
43R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
gnomAD
COSV56324785
rs2092727259
43R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
rs120845653846K>QgnomAD
COSV56336056
rs1235107648
47T>MVariant of uncertain significance (Ensembl)cosmic curated
TOPMed
gnomAD
rs37649261348G>CESP
ExAC
TOPMed
gnomAD
rs209272860649Q>HgnomAD
COSV5632941350L>*cosmic curated
COSV5632991352A>Vcosmic curated
COSV5633166854K>Ecosmic curated
rs123947502855V>ITOPMed
rs147130570657D>GgnomAD
rs125037131957D>YgnomAD
rs155893968659T>PEnsembl
rs125239084861D>GgnomAD
COSV10015622862E>*cosmic curated
COSV10015324365E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV5632534568L>Qcosmic curated
rs132145552671N>DTOPMed
gnomAD
rs209622778972M>VgnomAD
rs140867261973L>VgnomAD
COSV100153425
COSV56336064
74K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV5632451776Y>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV100155391
COSV56325717
77S>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV5632571777S>Fcosmic curated
rs121687980978H>NTOPMed
gnomAD
rs121687980978H>YTOPMed
gnomAD
rs214933563079H>LEnsembl
rs97464275580R>KgnomAD
COSV5633406181N>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV105123054
rs1190390421
82I>Tcosmic curated
gnomAD
rs5585626385Y>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
Likely benign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV5633566088A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs142768299190I>VgnomAD
rs209622881991K>REnsembl
rs93587860693S>REnsembl
rs209622909795P>LEnsembl
COSV10015582895P>Tcosmic curated
COSV5632773396G>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV10512306596G>Rcosmic curated
rs148280931598D>NgnomAD
rs867449693100Q>*Ensembl
rs1390113038103L>FgnomAD
COSV56332703104V>Dcosmic curated
COSV100153480104V>Gcosmic curated
COSV99043052107F>Lcosmic curated
rs1323746856108C>YgnomAD
COSV100153216109G>Wcosmic curated
COSV100153983111G>Wcosmic curated
rs1351156709113I>VgnomAD
COSV56325783115D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV100156358118K>Ecosmic curated
rs765225661121K>RExAC
TOPMed
gnomAD
rs2096301402122G>EEnsembl
rs2096301586123N>SEnsembl
rs1388049230124T>AgnomAD
rs2096301907125L>VEnsembl
rs1364414034131A>STOPMed
gnomAD
COSV56325036131A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1322468820133I>LgnomAD
COSV56331560134S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV105876822136E>*cosmic curated
COSV56340530139R>Kcosmic curated
COSV56332088140G>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV106450404140G>Kcosmic curated
COSV100155267141L>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1254830144142A>TgnomAD
COSV100156252145H>Ycosmic curated
rs1182529595146I>LgnomAD
rs1410767752147H>NgnomAD
rs751406853147H>RExAC
TOPMed
gnomAD
COSV56340540148H>Lcosmic curated
rs780950846148H>RExAC
TOPMed
gnomAD
rs1359692414148H>YgnomAD
rs1310961140149V>MgnomAD
COSV56341419151H>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV56329167152R>Gcosmic curated
COSV56329167
rs749844971
152R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
dbSNP
gnomAD
COSV106450401153D>Ncosmic curated
rs1228631035156G>STOPMed
gnomAD
rs1182240330157Q>EgnomAD
rs1371387917159V>MgnomAD
rs746630060162T>SVariant of uncertain significance (Ensembl)TOPMed
gnomAD
COSV56326936165A>Scosmic curated
COSV56330752
rs945638324
165A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
COSV100154629170V>Acosmic curated
rs779521702170V>FExAC
gnomAD
COSV104534440171D>Ecosmic curated
COSV56329975171D>Hcosmic curated
COSV107392132175S>Ccosmic curated
COSV100155989176A>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV56329592177Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs2096601826180R>KgnomAD
rs1467706026184R>QTOPMed
gnomAD
COSV106450231
rs2096601991
184R>Wcosmic curated
TOPMed
rs1211624298187T>MgnomAD
COSV100153228192P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV104534454194W>Ccosmic curated
COSV56338833196A>Vcosmic curated
COSV100153302197P>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV108126229197P>Scosmic curated
COSV100154842198E>*cosmic curated
COSV100154842
COSV56339742
198E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV108126010198E>Qcosmic curated
COSV56330202200I>Vcosmic curated
COSV100154285201A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV56341037207D>Ncosmic curated
COSV108126228209T>Icosmic curated
COSV104534427210Y>Ccosmic curated
rs1473822922212Y>*gnomAD
COSV100154758213R>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV56336408215D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99043069216L>Fcosmic curated
COSV100155606219C>Ycosmic curated
COSV56337395225E>Gcosmic curated
COSV56337110225E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV105122898227A>Vcosmic curated
rs2096684053229G>VEnsembl
COSV105123028231P>Lcosmic curated
rs1350667772232P>SgnomAD
COSV100155232232P>Tcosmic curated
COSV104534489
rs945488941
234C>Rcosmic curated
TOPMed
gnomAD
rs762374702236M>LExAC
gnomAD
rs762374702236M>VExAC
gnomAD
COSV56336196239M>Icosmic curated
COSV100154960245I>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs768067515245I>VExAC
gnomAD
COSV56331257246P>Lcosmic curated
rs368448477249P>RESP
ExAC
TOPMed
gnomAD
rs1393833835249P>SgnomAD
COSV56341920
rs868663062
250P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
dbSNP
COSV56327042251P>Lcosmic curated
rs1169753598252R>GgnomAD
rs371917259252R>QESP
TOPMed
gnomAD
COSV56340985252R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs756472521253L>MVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV56337294254K>*cosmic curated
COSV56325472
rs2096866350
259S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
COSV105876802261K>*cosmic curated
COSV104534438262F>Ycosmic curated
COSV100153471266I>Lcosmic curated
rs773869416266I>VgnomAD
COSV56331314
rs1163720801
268G>Rcosmic curated
gnomAD
COSV100153675268G>Wcosmic curated
COSV105876803273N>Kcosmic curated
COSV56325244274Y>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1321149450275M>ITOPMed
gnomAD
rs2096866667275M>VTOPMed
rs1361118802276Q>*gnomAD
COSV100156083277R>Lcosmic curated
COSV100156206277R>Wcosmic curated
COSV56325222278P>Lcosmic curated
COSV56339667278P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs769374977281E>DExAC
TOPMed
gnomAD
COSV107392276284L>Fcosmic curated
COSV107392277285K>*cosmic curated
COSV107392278285K>Icosmic curated
rs762381643287P>SExAC
TOPMed
gnomAD
COSV100156123290R>Mcosmic curated
COSV56339735
rs866505635
292Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
dbSNP
rs373273159293P>AESP
ExAC
gnomAD
rs760979075294N>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV100156132298V>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV105876790299R>Kcosmic curated
rs755225334305H>LExAC
gnomAD
COSV56330229305H>Ncosmic curated
COSV56324669306I>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV56327872307D>Ycosmic curated
COSV56328331
rs779064004
308R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs138586532308R>H1000Genomes
ExAC
TOPMed
gnomAD
rs2096867527310R>KTOPMed
rs2096867570312K>RgnomAD
COSV56328900
rs1344571152
315E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
COSV56325121317D>Hcosmic curated
COSV56341055321Y>Ccosmic curated
COSV56331532324S>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV56337683326S>Icosmic curated
rs1576604956326S>REnsembl
rs1178222976327E>DgnomAD
rs1444787842334P>RTOPMed
rs759833561334P>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs2096956878337E>DEnsembl
COSV56340724338G>*cosmic curated
rs1181145167343I>VTOPMed
gnomAD
COSV100615526346V>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1352923057346V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
rs2097014560349E>GEnsembl
rs1326951973350S>PgnomAD
rs2097014752351T>SEnsembl
COSV56339492354R>*cosmic curated
COSV56333795
rs1439407435
354R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs1238457086366R>CTOPMed
gnomAD
rs1305348193366R>HTOPMed
gnomAD
COSV100155630368E>Dcosmic curated
rs1253435496369A>PTOPMed
gnomAD
rs765546057369A>VExAC
gnomAD
rs1395893804370L>VTOPMed
gnomAD
rs775976851371R>QExAC
gnomAD
rs1191731616371R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
rs1475790732374Q>PgnomAD
rs1475790732374Q>RgnomAD
rs374166171377Q>RESP
ExAC
TOPMed
gnomAD
COSV106450413380Q>*cosmic curated
rs751628814380Q>RExAC
TOPMed
gnomAD
COSV56332448382R>Lcosmic curated
COSV56338826
rs532710355
382R>Qcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs757412660382R>WExAC
TOPMed
rs956862332386E>KTOPMed
gnomAD
rs1426323632389R>KTOPMed
gnomAD
rs1385570612393A>VTOPMed
rs1460205391396Q>EgnomAD
COSV56340789396Q>Hcosmic curated
COSV56341387398R>Qcosmic curated
rs1323139694398R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
rs1327468550400E>KgnomAD
rs1430849006401Q>EgnomAD
COSV56325626405Q>Hcosmic curated
COSV56330403
rs1164068604
407R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
COSV56324324
rs750347302
407R>Qcosmic curated
ExAC
TOPMed
gnomAD
rs779680789408R>QExAC
TOPMed
gnomAD
COSV105122798
rs377621157
408R>Wcosmic curated
ESP
ExAC
TOPMed
gnomAD
COSV56337027411E>*cosmic curated
rs2097441029416E>*TOPMed
rs2097441131416E>ATOPMed
COSV56341395
rs2097441029
416E>Qcosmic curated
TOPMed
COSV100155472417R>Lcosmic curated
rs1416085466417R>QgnomAD
rs1342984228417R>WTOPMed
gnomAD
rs2097441424418E>GTOPMed
rs1231263139420R>KgnomAD
rs1281111984421R>KgnomAD
rs2097441767423Q>KgnomAD
rs1351105434423Q>RTOPMed
gnomAD
COSV56336494425R>Ccosmic curated
rs1029683478425R>HTOPMed
gnomAD
rs1559204080426E>AEnsembl
rs2097442048427Q>HEnsembl
COSV56340668428R>*cosmic curated
rs1282055770428R>QgnomAD
rs2097442167430R>KTOPMed
gnomAD
rs2097442167430R>TTOPMed
gnomAD
rs2097442250432Q>ETOPMed
gnomAD
rs957597333432Q>RTOPMed
gnomAD
rs2097442362433E>GTOPMed
rs1486695428434E>GTOPMed
gnomAD
rs1211622113436R>MgnomAD
COSV100153390
rs767937569
437R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
rs368647388437R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs368647388437R>LESP
ExAC
TOPMed
gnomAD
rs1184579294438L>VTOPMed
gnomAD
rs2097443035439E>AgnomAD
COSV56325513
rs775996617
440E>Dcosmic curated
1000Genomes
ExAC
gnomAD
rs1449102621441L>STOPMed
gnomAD
rs2097443148441L>VgnomAD
rs372525827442E>QEnsembl
rs1157407232445R>CTOPMed
gnomAD
COSV106059698
rs1327661985
445R>Hcosmic curated
TOPMed
gnomAD
rs1367170897448E>QTOPMed
gnomAD
rs2097444095450E>DEnsembl
rs2097443971450E>GEnsembl
rs1374287992451R>KgnomAD
rs1374287992451R>TgnomAD
rs2097444306452R>TEnsembl
COSV107392289453R>Lcosmic curated
COSV56341696
rs2097444416
453R>Qcosmic curated
TOPMed
rs1330457134453R>WTOPMed
gnomAD
rs1336196586454A>TTOPMed
gnomAD
rs2097444603458K>EEnsembl
rs1356633633459R>MTOPMed
gnomAD
rs1356633633459R>TTOPMed
gnomAD
rs1349910399460R>GgnomAD
rs528810915461V>D1000Genomes
ExAC
gnomAD
rs1235163121461V>IgnomAD
rs2097445402464E>KEnsembl
rs928706650464E>VEnsembl
rs992606913468I>SVariant of uncertain significance (Ensembl)Ensembl
rs758121433468I>VExAC
TOPMed
gnomAD
COSV56329096
rs1229619992
470R>*cosmic curated
gnomAD
COSV56340606470R>Lcosmic curated
COSV56335951
rs1182995037
470R>Qcosmic curated
TOPMed
gnomAD
rs917926668471Q>HEnsembl
rs1252124092472L>VgnomAD
COSV100156213473E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV56326751
COSV56336108
477R>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV56326751
COSV56336108
rs980383229
477R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
rs746600320477R>WExAC
TOPMed
gnomAD
rs770192457478H>YExAC
gnomAD
rs1206079818479L>WTOPMed
COSV105122881
rs780708201
481V>ILikely benign (Ensembl)cosmic curated
ExAC
TOPMed
gnomAD
rs749626652482L>FExAC
gnomAD
rs1261941474483Q>RTOPMed
gnomAD
rs1241842237485Q>HTOPMed
gnomAD
rs774902440485Q>KExAC
gnomAD
rs2097558493486L>VTOPMed
gnomAD
rs2097558526487L>ITOPMed
rs2097558626488Q>PTOPMed
COSV100154667491A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1165774053494L>PgnomAD
rs1295360049496C>RTOPMed
gnomAD
rs1356278858496C>YgnomAD
rs1002037530497R>*TOPMed
COSV56340169
rs772128002
497R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs1319086884498W>SgnomAD
rs374370469499R>PESP
ExAC
TOPMed
gnomAD
rs374370469499R>QESP
ExAC
TOPMed
gnomAD
rs773487036499R>WExAC
TOPMed
gnomAD
rs771021805500E>AExAC
gnomAD
rs1485772173501M>KTOPMed
gnomAD
rs1485772173501M>TTOPMed
gnomAD
rs776742471501M>VExAC
gnomAD
rs759441532503E>DExAC
gnomAD
rs1317950719503E>KTOPMed
gnomAD
rs2097578460505R>QTOPMed
rs765227761505R>WExAC
TOPMed
gnomAD
rs1159749928506Q>KgnomAD
rs1363096219506Q>LTOPMed
gnomAD
rs2097578732507A>VgnomAD
rs1417958339508E>QgnomAD
rs1314781056511Q>LgnomAD
rs2097578890512R>GgnomAD
COSV56337664512Q>Hcosmic curated
rs762823145512R>SExAC
gnomAD
rs992712884513Q>*TOPMed
rs763610307513Q>HExAC
TOPMed
gnomAD
rs377671536515Q>EESP
ExAC
TOPMed
gnomAD
COSV56324771515R>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs2097579373517E>AEnsembl
rs767102279517E>KExAC
gnomAD
rs866900799518Q>KEnsembl
rs1306934464518Q>RTOPMed
gnomAD
COSV107392297
rs761550452
519S>Ncosmic curated
ExAC
TOPMed
gnomAD
rs2097579544519A>PEnsembl
rs1228474024519A>VgnomAD
rs1281902801520Y>CgnomAD
rs1237365488520Y>HTOPMed
gnomAD
rs1347956000522L>PgnomAD
rs1209791165523S>CTOPMed
gnomAD
rs1209791165523S>FTOPMed
gnomAD
COSV100156053
rs760266370
524E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs2097579963526H>YTOPMed
rs1235317065529R>GgnomAD
COSV56328746
rs1214859627
530E>Kcosmic curated
gnomAD
rs978627982531P>LVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1576920493532H>PgnomAD
rs1576920493532H>RgnomAD
rs755526358532H>YVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs61741751533P>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs61741751533P>R1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV100155003533D>Ycosmic curated
CA1806991
COSV56343700
RCV000656330
rs781410462
534R>Q
Cerebral arteriovenous malformation (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs2097580426535H>RgnomAD
COSV56336349
rs200603698
535A>Vcosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV100155587
rs2097582436
536R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
rs758823238536S>LExAC
TOPMed
gnomAD
rs1395835503536S>PTOPMed
gnomAD
rs1395835503536S>TTOPMed
gnomAD
rs771183594537Q>RExAC
TOPMed
gnomAD
COSV56339601537E>Vcosmic curated
rs776691332538Q>KExAC
gnomAD
COSV56337596538V>Lcosmic curated
rs949605261539P>LVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs775505116540P>TExAC
gnomAD
rs1293177076541P>LTOPMed
gnomAD
rs1232849580542P>LTOPMed
gnomAD
rs1308849887543Q>LgnomAD
rs1204736633545E>KgnomAD
rs1456270801547S>NTOPMed
gnomAD
rs1456270801547S>TTOPMed
gnomAD
rs1214860902548K>NTOPMed
gnomAD
COSV100155513
rs61741756
549N>Scosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1183008473550S>GgnomAD
rs761550452550S>IExAC
TOPMed
gnomAD
rs1453887818551F>LgnomAD
COSV107392121552P>Lcosmic curated
rs994446124552H>QTOPMed
rs767335538552H>RVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1421954826553A>VTOPMed
gnomAD
rs2097581534554P>SEnsembl
COSV56333403
rs752768892
555R>Qcosmic curated
ExAC
TOPMed
gnomAD
rs1456317299556P>ATOPMed
rs765621970556P>LExAC
gnomAD
COSV56336874556S>Ycosmic curated
COSV105123029557H>Qcosmic curated
COSV56337158558S>Fcosmic curated
rs1435165510559H>LVariant of uncertain significance (Ensembl)gnomAD
rs1272607935559H>QgnomAD
rs1435165510559H>RVariant of uncertain significance (Ensembl)gnomAD
rs2097581846559H>YTOPMed
rs1436345005560Y>CTOPMed
gnomAD
rs2149831994561E>AEnsembl
rs1214859627561E>QgnomAD
rs1277179879
COSV104534464
562P>HgnomAD
cosmic curated
rs1277179879
COSV99043062
562P>LgnomAD
cosmic curated
COSV56333822563S>Ccosmic curated
rs2097582149564D>ETOPMed
gnomAD
rs751991039565R>GExAC
TOPMed
gnomAD
rs781410462565R>LLikely pathogenic (Ensembl)ExAC
TOPMed
gnomAD
COSV107392337567A>Pcosmic curated
rs564269420567R>Q1000Genomes
ExAC
TOPMed
gnomAD
rs1270018587568E>ATOPMed
rs1270018587568E>GTOPMed
COSV56324953569H>Pcosmic curated
rs758984866572R>TExAC
gnomAD
rs1393767712573F>LTOPMed
gnomAD
rs2097629539573F>STOPMed
rs2097629539573F>YTOPMed
rs2097629881574R>KEnsembl
rs1576942433576T>PEnsembl
rs2097630275577N>KgnomAD
rs764598259578H>RExAC
gnomAD
rs1336101195578H>YgnomAD
rs767832475581P>HExAC
TOPMed
gnomAD
rs767832475581P>LExAC
TOPMed
gnomAD
rs762352729581P>SExAC
gnomAD
COSV56327384
rs370107925
581R>Scosmic curated
ESP
ExAC
TOPMed
gnomAD
rs971061135582E>DEnsembl
rs750851531583A>DExAC
gnomAD
rs2097631501584Q>HTOPMed
rs756344700586K>MExAC
TOPMed
gnomAD
rs1197745221586K>NgnomAD
rs1559226855589G>SEnsembl
COSV56337133592K>Ecosmic curated
rs572481216592L>MVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs368035914594P>SESP
ExAC
TOPMed
gnomAD
COSV56338756
rs1300189807
595A>Tcosmic curated
TOPMed
COSV105876819
rs55937922
597D>Vcosmic curated
ExAC
TOPMed
gnomAD
COSV56338413
rs2097748105
599T>Acosmic curated
TOPMed
gnomAD
rs371929766599R>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs371929766599R>P1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV56325520
rs371929766
599R>Qcosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV56340797601K>Ncosmic curated
rs2097633296604S>CEnsembl
rs1301741891604S>PgnomAD
rs746840228605N>DExAC
gnomAD
rs1464270892605N>STOPMed
gnomAD
COSV56337584
rs779643444
606S>Lcosmic curated
ExAC
gnomAD
COSV56341654
rs1169267800
606G>Scosmic curated
gnomAD
rs1576944111607N>TEnsembl
rs866772412608S>FEnsembl
COSV56324218608S>Rcosmic curated
rs1490984942609E>DTOPMed
gnomAD
rs770562753609E>KExAC
gnomAD
COSV56327104610E>Kcosmic curated
rs776155398610S>PExAC
gnomAD
rs1266488586610S>YTOPMed
gnomAD
rs1229481941611V>LTOPMed
gnomAD
rs1229481941611V>MTOPMed
gnomAD
rs1576944752612H>QTOPMed
rs745347561612H>RExAC
gnomAD
rs769213670613P>HExAC
gnomAD
rs769213670613P>LExAC
gnomAD
rs1218835610614A>DTOPMed
gnomAD
COSV56336367
rs181612739
614A>Tcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1277385716616P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
rs1270986332618P>AgnomAD
rs1339672347619A>PTOPMed
gnomAD
rs201446088619A>VExAC
TOPMed
gnomAD
COSV100156291
rs1315825866
622R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV56333320
rs370976722
622R>Hcosmic curated
ESP
ExAC
TOPMed
gnomAD
rs769498823623V>IExAC
gnomAD
rs1370805505624Q>RTOPMed
gnomAD
rs376658983626S>CESP
ExAC
gnomAD
rs376658983626S>FESP
ExAC
gnomAD
rs369505649628L>VESP
rs2097740765629A>PTOPMed
rs2097740852629A>VTOPMed
rs546802101630S>Y1000Genomes
ExAC
gnomAD
rs560478972631L>V1000Genomes
ExAC
gnomAD
rs2097741432633N>KTOPMed
rs773621504633N>SExAC
TOPMed
gnomAD
rs771177701635V>IExAC
gnomAD
rs2149906492636S>FEnsembl
COSV56338922638Q>Kcosmic curated
rs765614867639S>LExAC
TOPMed
gnomAD
rs2097742460640R>*TOPMed
COSV56336629
rs917713319
642Q>Ecosmic curated
Ensembl
COSV56335922644G>Ecosmic curated
COSV56336925
rs1355506766
644G>Vcosmic curated
gnomAD
rs2097742712644F>VEnsembl
rs1455326474646D>ETOPMed
rs984300495647P>AEnsembl
rs2097743176648S>FTOPMed
rs2097743293649P>TgnomAD
rs1311238947650K>IgnomAD
rs1311238947650K>RgnomAD
COSV56342888651S>Icosmic curated
rs764086480
COSV56341568
652A>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
gnomAD
NCI-TCGA Cosmic
cosmic curated
COSV56329946653E>Qcosmic curated
COSV56325378654P>Hcosmic curated
rs202035673654H>REnsembl
rs1003970756654H>YTOPMed
rs1240355684655H>DgnomAD
COSV100153569655R>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1286174346657R>C1000Genomes
gnomAD
rs751478495657R>HExAC
gnomAD
rs751478495657R>PExAC
gnomAD
rs757272406658S>FExAC
TOPMed
gnomAD
rs2097744614659Q>EEnsembl
rs2097744706660D>NTOPMed
rs780841544662C>RExAC
TOPMed
gnomAD
rs750287423662C>YExAC
gnomAD
COSV56340806664L>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV108126096665V>Ecosmic curated
rs370107925666R>CESP
ExAC
TOPMed
gnomAD
rs868664885666R>HTOPMed
gnomAD
rs1379829666667S>GTOPMed
gnomAD
rs531511135667S>N1000Genomes
ExAC
gnomAD
rs1379829666667S>RTOPMed
gnomAD
rs778533248668E>AExAC
gnomAD
rs2097745790668E>QTOPMed
COSV105876785670S>Tcosmic curated
COSV108126107671G>Ccosmic curated
COSV108126156671G>Dcosmic curated
rs776847776671S>GExAC
gnomAD
rs776847776671S>RExAC
gnomAD
rs2097746453674S>FEnsembl
rs922609218675D>EEnsembl
rs770077025676S>YExAC
rs1386619464679E>GTOPMed
COSV107392149
rs1386069517
679S>Lcosmic curated
TOPMed
rs775888323680A>VExAC
gnomAD
rs2097747608681P>ATOPMed
rs1309167535681P>RgnomAD
COSV56338389682Q>*cosmic curated
rs764233919682D>HExAC
gnomAD
rs761656153684T>IExAC
gnomAD
COSV100155651684G>Wcosmic curated
rs767497613685Q>RExAC
gnomAD
rs755927152686K>EExAC
TOPMed
gnomAD
COSV56342023686H>Ncosmic curated
COSV100155272686H>Ycosmic curated
rs2097748718688W>*gnomAD
COSV56334255688G>Wcosmic curated
rs2097748835689S>PTOPMed
rs2097748935690R>GgnomAD
rs753458044692D>HExAC
TOPMed
gnomAD
rs1237428159693S>GgnomAD
rs1049696786693S>ITOPMed
gnomAD
rs2097749527694D>GEnsembl
rs2097749416694D>NEnsembl
COSV56331834
rs776570846
694G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV105122918
TCGA novel
695E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
NCI-TCGA
COSV56336969
rs369479508
696R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV104534486696R>Lcosmic curated
rs1432873868697P>LTOPMed
gnomAD
rs778273085697P>SExAC
TOPMed
gnomAD
rs778273085697P>TExAC
TOPMed
gnomAD
rs1356711390698P>AgnomAD
rs1277385716701P>RTOPMed
gnomAD
rs923848043701P>SgnomAD
rs1209664902703S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
rs2149928084704T>AEnsembl
rs1294122098704T>KTOPMed
gnomAD
rs2149928147705T>AEnsembl
rs868040944706S>YEnsembl
rs1321212017
COSV105123025
709P>LgnomAD
cosmic curated
COSV56337349
rs1179532178
710S>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
COSV105122925710S>Fcosmic curated
COSV105122926711Q>*cosmic curated
COSV56340814
rs768378384
712R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs56048147712S>P1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs56048147712S>T1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753690528713R>CExAC
TOPMed
gnomAD
rs752991685713R>HExAC
TOPMed
gnomAD
rs752991685713R>PExAC
TOPMed
gnomAD
rs753690528713R>SExAC
TOPMed
gnomAD
rs1261563308714R>*gnomAD
rs764946182714R>PExAC
TOPMed
gnomAD
rs764946182714R>QExAC
TOPMed
gnomAD
rs752088917716S>FExAC
gnomAD
TCGA novel
rs2097845072
716A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TOPMed
gnomAD
rs1413639324717P>SgnomAD
rs1231535758718L>RTOPMed
gnomAD
rs781509074719Q>HExAC
gnomAD
rs1162135551719Q>RgnomAD
rs1400294694720G>RTOPMed
gnomAD
rs570243828721S>G1000Genomes
TOPMed
gnomAD
COSV56339523721E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs746342350721S>RExAC
gnomAD
rs2097772681722G>RgnomAD
rs756730726724Q>HExAC
gnomAD
rs2097772781726S>GTOPMed
rs867003204726S>IEnsembl
rs1284733047728A>EgnomAD
rs1427261797728A>TEnsembl
COSV56326563
rs760084118
729P>Scosmic curated
ExAC
gnomAD
rs1226512194730Q>LTOPMed
gnomAD
rs1226512194730Q>RTOPMed
gnomAD
rs1288321465732N>IgnomAD
rs947813206732N>KEnsembl
rs2149929205733S>FEnsembl
rs1320343278734T>ATOPMed
gnomAD
COSV107392116734V>Lcosmic curated
rs1027452840737I>VTOPMed
rs2097820043739P>LgnomAD
rs760592600
COSV100155870
739P>SExAC
gnomAD
cosmic curated
rs766369975740R>SExAC
gnomAD
COSV56339293
rs199996114
740A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs976091014742L>PEnsembl
rs2097820266743W>GTOPMed
rs1377917013744E>KgnomAD
rs371633174746V>MESP
TOPMed
COSV105122812
rs559473846
746R>Qcosmic curated
1000Genomes
ExAC
gnomAD
rs776341213747E>DExAC
gnomAD
rs201353278751P>AExAC
TOPMed
gnomAD
rs201353278751P>SExAC
TOPMed
gnomAD
COSV56337425
rs758159304
752R>Wcosmic curated
ExAC
TOPMed
gnomAD
rs758022791753P>HExAC
gnomAD
rs758022791753P>RExAC
gnomAD
rs2097820715753P>STOPMed
rs1400891216754G>VgnomAD
rs1445914892757S>GgnomAD
COSV100153536
rs770671445
758T>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs756626699762S>GExAC
gnomAD
COSV107392305762S>Lcosmic curated
rs1156959906763N>DTOPMed
COSV56340846763S>Fcosmic curated
rs2097821243763N>KEnsembl
rs1425821761763N>TTOPMed
rs2097821300764S>PTOPMed
rs1183428678765G>ETOPMed
gnomAD
COSV56340694765E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs2097821428766S>FTOPMed
COSV100153543
rs2150018574
767S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
rs755404987769G>AExAC
TOPMed
gnomAD
rs755404987769G>EExAC
TOPMed
gnomAD
COSV56328437
rs545368433
769T>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
rs548736889769G>R1000Genomes
ExAC
gnomAD
rs201828323771H>QESP
ExAC
TOPMed
gnomAD
rs1485801274772P>STOPMed
rs772242495773G>AExAC
gnomAD
COSV100153587773E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs2149961036773G>REnsembl
rs947540335775D>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Ensembl
dbSNP
rs534466891775Q>H1000Genomes
ExAC
TOPMed
gnomAD
rs770796909776S>NExAC
TOPMed
gnomAD
rs1322005562777G>VTOPMed
COSV105123044
rs759712021
778E>Kcosmic curated
ExAC
gnomAD
rs776570846779G>WExAC
TOPMed
gnomAD
COSV56339414780E>Kcosmic curated
rs1367108988781R>HTOPMed
gnomAD
rs765920465783R>GgnomAD
COSV100156322783D>Ncosmic curated
rs769597443783R>TExAC
gnomAD
COSV100155397784E>*cosmic curated
COSV56339217785S>Fcosmic curated
rs949478810785R>KTOPMed
gnomAD
rs949478810785R>TTOPMed
gnomAD
rs763902533786S>PExAC
gnomAD
COSV100154918787S>*cosmic curated
rs745792785788S>PExAC
gnomAD
rs769673892790S>AExAC
gnomAD
COSV56339435790E>Kcosmic curated
rs1410317583793S>CTOPMed
COSV56337874
rs1370847857
794A>Vcosmic curated
TOPMed
rs2097844788795S>PTOPMed
rs1356635744796Q>LTOPMed
gnomAD
rs1356635744796Q>PTOPMed
gnomAD
rs565727787797R>C1000Genomes
ExAC
TOPMed
gnomAD
rs768378384797R>LExAC
TOPMed
gnomAD
COSV56343113797S>Ycosmic curated
rs1487853051799E>QgnomAD
COSV100153208800L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs2097845072801A>ETOPMed
gnomAD
rs2097845037801A>STOPMed
rs1424381334802V>AgnomAD
rs761601346802V>LExAC
TOPMed
gnomAD
rs1186739163804K>QgnomAD
rs1159493538805P>LgnomAD
COSV56331014
rs372783884
805T>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
dbSNP
gnomAD
rs1159493538805P>RgnomAD
rs749961363805P>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs749961363805P>TVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV56342150807S>Ycosmic curated
rs1360083921808K>EgnomAD
rs1451854371811V>GgnomAD
COSV56332258811M>Icosmic curated
COSV56327760
rs368954596
813V>Acosmic curated
ESP
ExAC
gnomAD
rs760084118814P>TExAC
gnomAD
rs1174682556815L>FgnomAD
rs1396027633818A>DgnomAD
rs750470583819G>DExAC
TOPMed
gnomAD
COSV100156296819S>Rcosmic curated
COSV100153439820E>Gcosmic curated
rs780225062820E>KExAC
TOPMed
gnomAD
COSV105122794821P>Scosmic curated
rs965449229822D>GTOPMed
gnomAD
rs1353866065822D>NTOPMed
gnomAD
COSV56327131
rs2150028294
822A>Tcosmic curated
1000Genomes
rs965449229822D>VTOPMed
gnomAD
rs767742784823L>PExAC
TOPMed
gnomAD
rs767742784823L>RExAC
TOPMed
gnomAD
COSV56331705824T>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs199996114825A>PVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
COSV100154619825P>Qcosmic curated
COSV56334880
rs199996114
825P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
TOPMed
gnomAD
COSV56335100
rs868505912
826S>Fcosmic curated
Ensembl
rs2097921606827A>GgnomAD
rs1333198693827K>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
rs754896767827A>TExAC
gnomAD
rs2150017898828K>EEnsembl
rs1193442773828K>RTOPMed
gnomAD
COSV56328807828E>Vcosmic curated
rs773558529829E>DVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV56339154829G>Scosmic curated
COSV56344500
rs374179839
833V>Icosmic curated
ESP
ExAC
TOPMed
gnomAD
COSV56335191833V>Lcosmic curated
rs1182945610834E>AgnomAD
rs1413892973834E>DgnomAD
rs1443416958835D>ETOPMed
gnomAD
rs2097921945835D>HEnsembl
rs1161306865836V>ITOPMed
gnomAD
COSV107392275836T>Scosmic curated
rs777661448837R>QExAC
gnomAD
COSV100156141838S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1450211671839P>LTOPMed
gnomAD
rs1343203531839P>SgnomAD
rs190004512840H>Q1000Genomes
ExAC
TOPMed
gnomAD
rs2097922600841K>ETOPMed
COSV56333618841S>Icosmic curated
rs1269891509841K>RgnomAD
COSV106450406844Q>*cosmic curated
rs1216729695844D>ETOPMed
gnomAD
rs745381673844D>NExAC
gnomAD
rs2097922924845Y>CTOPMed
COSV56325087848S>Ccosmic curated
rs2150018557849S>NEnsembl
rs1444423454853G>RgnomAD
rs2097923121854T>AgnomAD
rs1460511369855T>MTOPMed
gnomAD
rs1381602398857E>KgnomAD
rs773687320858E>DExAC
TOPMed
gnomAD
rs760805317859D>EExAC
TOPMed
gnomAD
rs1405530495860D>NgnomAD
rs753912429861D>EExAC
TOPMed
gnomAD
rs1334777509861D>HgnomAD
rs1334777509861D>NgnomAD
rs2097923801863E>GgnomAD
rs977506323864Q>HEnsembl
rs1333511577865E>DTOPMed
gnomAD
rs1238607737867A>SgnomAD
rs1368986299867A>VTOPMed
gnomAD
rs765225259869E>KExAC
TOPMed
gnomAD
rs2097924127871T>PTOPMed
rs752650443872S>PExAC
gnomAD
rs1460410070873G>*gnomAD
rs1201060958873G>EgnomAD
rs1460410070873G>RgnomAD
rs866242185875E>DEnsembl
COSV56329683876G>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs758407981876D>GExAC
gnomAD
rs1437840647876D>NgnomAD
COSV56325206876G>Rcosmic curated
COSV100156302
rs2150086388
878S>Fcosmic curated
Ensembl
COSV56336853878S>Pcosmic curated
rs777416409879A>PExAC
TOPMed
gnomAD
rs777416409879A>TExAC
TOPMed
gnomAD
COSV56337739879C>Ycosmic curated
rs751435179880A>TVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs375823544880A>VESP
ExAC
TOPMed
gnomAD
rs1302712279881S>LgnomAD
rs759877850881S>TExAC
TOPMed
gnomAD
COSV56333276882M>Icosmic curated
rs2097948388884N>HEnsembl
rs1343683877884N>STOPMed
gnomAD
rs750288682886S>RTOPMed
gnomAD
rs765384309887N>SExAC
TOPMed
gnomAD
rs752881262889E>GExAC
gnomAD
rs2097948608889E>KgnomAD
COSV56332746891P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs757094416892S>PExAC
gnomAD
rs767343379893V>LVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs767343379893V>MVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV100153651
COSV56326004
rs781009612
893R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs1355304351894K>RgnomAD
rs2150027968895T>AEnsembl
rs755824363895T>IExAC
gnomAD
COSV56341586
rs375209088
896S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs779537824896M>VExAC
TOPMed
gnomAD
rs1577117598897I>VEnsembl
rs368954596898V>GESP
ExAC
gnomAD
rs778367356900D>GExAC
TOPMed
gnomAD
rs778367356900D>VExAC
TOPMed
gnomAD
COSV56332118901N>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs771391146902V>AExAC
TOPMed
gnomAD
rs2097949678903E>GTOPMed
gnomAD
rs200928764903E>KESP
ExAC
TOPMed
gnomAD
rs1181144744905T>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
rs1163205178905E>KgnomAD
COSV56333381906R>Gcosmic curated
rs746075133906P>LExAC
TOPMed
gnomAD
rs746075133906P>QExAC
TOPMed
gnomAD
rs1299250529908M>IgnomAD
rs2097949918908M>VTOPMed
rs2097950015910P>LEnsembl
COSV56331749910D>Ycosmic curated
COSV56329237912P>Scosmic curated
COSV100154790913E>Dcosmic curated
rs763102606913E>GExAC
gnomAD
rs1315369498914G>CgnomAD
COSV56326979
rs375228116
915R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs371124016915T>I1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1341767262915T>PgnomAD
rs1341767262915T>SgnomAD
rs1444940255916L>VgnomAD
rs773555909917I>TEnsembl
rs2097950746917I>VgnomAD
rs780305338918V>DEnsembl
COSV100155866918K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs750288751919R>CExAC
TOPMed
gnomAD
rs377621426919R>HESP
ExAC
TOPMed
gnomAD
rs890869657920Q>ETOPMed
gnomAD
COSV56338028
rs185929658
921S>NVariant of uncertain significance (Ensembl)cosmic curated
1000Genomes
TOPMed
gnomAD
rs2098022723922T>AEnsembl
rs767451381922T>IExAC
gnomAD
COSV100154797
rs1294709979
922N>Tcosmic curated
gnomAD
COSV56339333923S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV100154722
rs577039991
926L>Mcosmic curated
ExAC
gnomAD
rs1559281336927R>CEnsembl
rs1443683518927R>HTOPMed
gnomAD
rs1443683518927R>LTOPMed
gnomAD
rs980219581928A>TTOPMed
rs2098023456928A>VTOPMed
rs1298425197929S>NTOPMed
gnomAD
COSV105876809929A>Vcosmic curated
rs1577145734930H>REnsembl
COSV107392133931W>Ccosmic curated
rs772934965931H>RExAC
TOPMed
gnomAD
rs1421950549932E>KTOPMed
gnomAD
rs1303218009934N>STOPMed
gnomAD
rs2098024183935G>VTOPMed
rs956546489937A>VTOPMed
gnomAD
rs767548846938G>SExAC
TOPMed
gnomAD
rs1024720142939R>CTOPMed
gnomAD
rs753499639939R>HExAC
TOPMed
gnomAD
rs1024720142939R>STOPMed
gnomAD
COSV100155155941S>Icosmic curated
COSV56338539942G>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1250808141942L>FgnomAD
rs538087124943L>V1000Genomes
TOPMed
rs1375203363948Q>*TOPMed
gnomAD
rs1375203363948Q>ETOPMed
gnomAD
TCGA novel
rs2150129797
948R>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
Ensembl
COSV108126119949S>Gcosmic curated
rs2098025423949Q>REnsembl
rs1273868698950S>NTOPMed
gnomAD
COSV56334306951Q>Hcosmic curated
rs555033539953S>FVariant of uncertain significance (Ensembl)1000Genomes
COSV100154616953K>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1480282028954S>CgnomAD
rs1197920499955T>ATOPMed
gnomAD
rs2150048995955T>IEnsembl
rs1197920499955T>STOPMed
gnomAD
COSV104534466956P>Hcosmic curated
COSV56331182957L>Vcosmic curated
rs1170598641958T>IgnomAD
rs1577147147958T>PEnsembl
rs2098026809959S>FTOPMed
gnomAD
COSV56338196960R>Qcosmic curated
COSV56326588
rs754790276
962R>*cosmic curated
ExAC
gnomAD
COSV56340009962R>Qcosmic curated
rs2098027199963S>CEnsembl
COSV56339702
rs1254271667
964Q>*cosmic curated
gnomAD
rs2098027423966Q>*TOPMed
rs969083770966Q>HgnomAD
rs541836462967P>LVariant of uncertain significance (Ensembl)TOPMed
gnomAD
COSV107392134968V>Icosmic curated
COSV56341721969L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1295029408969P>LgnomAD
rs773112668969P>SEnsembl
COSV100154838970E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs752215486972S>FExAC
TOPMed
gnomAD
COSV56332137972L>Vcosmic curated
COSV56335855
rs1577252409
974V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
COSV104534484975L>Fcosmic curated
rs945584571975T>ITOPMed
gnomAD
rs1292715176977Q>*gnomAD
rs1265771487981T>AgnomAD
rs760504705982A>GEnsembl
rs1324584744983N>DTOPMed
gnomAD
rs866172172984E>GEnsembl
COSV56328706985L>Vcosmic curated
COSV56329706986R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs778988891986Q>EExAC
gnomAD
rs951419843986Q>LTOPMed
rs951419843986Q>RTOPMed
rs1485204400987S>YgnomAD
COSV104403192988Y>Dcosmic curated
rs1443702115988A>PTOPMed
gnomAD
rs1443702115988A>TTOPMed
gnomAD
rs1577188808989S>GgnomAD
rs1259464695990S>GTOPMed
gnomAD
rs771949686991T>IExAC
TOPMed
gnomAD
rs1158333653992L>PgnomAD
rs1181090802994K>RgnomAD
rs1181090802994K>TgnomAD
rs2098119004995H>RgnomAD
rs760647526996K>RExAC
TOPMed
gnomAD
rs879019815997S>FgnomAD
COSV100155890997I>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs879019815997S>YgnomAD
rs1382124523998S>CgnomAD
COSV56329031999H>Lcosmic curated
rs14507340351000S>FgnomAD
rs14653973291000S>PTOPMed
gnomAD
rs7592219241001F>SExAC
gnomAD
rs7763451571001F>VExAC
gnomAD
COSV1001555321005E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs7648005721007P>HExAC
TOPMed
gnomAD
rs12676529991007P>STOPMed
rs20981194411009L>FgnomAD
rs21500810601011Q>EEnsembl
COSV1001549821012T>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs20981195001012I>VEnsembl
COSV56329756
rs1215273180
1013V>Icosmic curated
TOPMed
gnomAD
rs15592911551014P>SEnsembl
COSV563341241014G>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV563267651015D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs3739248301016S>GESP
ExAC
TOPMed
gnomAD
COSV1073922621017E>Kcosmic curated
rs5344413321017G>R1000Genomes
ExAC
TOPMed
gnomAD
COSV1044032691018G>*cosmic curated
rs7804643081019T>AExAC
gnomAD
rs7541623831021T>IExAC
gnomAD
rs7790270001023V>LExAC
TOPMed
gnomAD
rs7790270001023V>MExAC
TOPMed
gnomAD
rs14384668221024V>LTOPMed
gnomAD
COSV563393231026K>Tcosmic curated
rs3701899111027S>AESP
ExAC
TOPMed
gnomAD
COSV100156215
rs772465744
1027Y>Ccosmic curated
ExAC
gnomAD
COSV1001561821028E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs12687021711029D>EEnsembl
COSV563360741029R>Icosmic curated
rs7636729591029D>VExAC
gnomAD
rs9101846481030G>ETOPMed
gnomAD
COSV563393141030I>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs20981314351031M>IEnsembl
rs7611797211031M>VExAC
TOPMed
gnomAD
rs20981314751032R>GEnsembl
rs3686650241033P>LESP
ExAC
TOPMed
gnomAD
rs3686650241033P>QESP
ExAC
TOPMed
gnomAD
rs7668132291033P>SExAC
gnomAD
rs7656308721034E>KExAC
gnomAD
rs7656308721034E>QExAC
gnomAD
rs13441952421035A>DgnomAD
rs5328604111036I>M1000Genomes
rs7586769121036I>RExAC
TOPMed
gnomAD
rs7586769121036I>TExAC
TOPMed
gnomAD
rs20981317001036I>VTOPMed
rs7778238421037R>KExAC
gnomAD
COSV563268111037L>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV563360061040S>Ycosmic curated
rs20981319851042R>QTOPMed
rs14537332501044G>VTOPMed
gnomAD
COSV1001543121045A>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV563264821045A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV563318521046W>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs13737773981046V>MgnomAD
rs20981322991048N>STOPMed
rs3722252281052T>IESP
TOPMed
gnomAD
rs15771984271053N>DEnsembl
rs10276211471053N>SgnomAD
COSV563291281054F>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV1081260421056A>Tcosmic curated
rs12044621761058S>NTOPMed
gnomAD
COSV563391751061G>Ecosmic curated
rs7684297231061P>LExAC
gnomAD
COSV563305241062E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs5289244871064R>H1000Genomes
ExAC
gnomAD
rs9117502641065K>EEnsembl
rs20981328591067K>RTOPMed
rs9658380001069R>KTOPMed
rs12947099791071N>SgnomAD
rs14507995511073E>VTOPMed
gnomAD
COSV563402991075E>Dcosmic curated
COSV563403291076E>*cosmic curated
rs2098133143
COSV106450382
1077A>STOPMed
cosmic curated
rs12822006081079L>VgnomAD
COSV563317711080L>Fcosmic curated
COSV56328420
rs778889965
1084Y>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs20982251861086V>ATOPMed
COSV1051230601086S>Fcosmic curated
rs10142704241088T>AVariant of uncertain significance (Ensembl)TOPMed
gnomAD
COSV1051230181089G>Kcosmic curated
COSV563339641094D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV563271561100V>Icosmic curated
rs15772516011102K>EEnsembl
rs15772517621103V>GEnsembl
rs13927125611103V>IgnomAD
COSV563372051103I>Scosmic curated
rs13349422781104Y>CgnomAD
rs13074443421104Y>HTOPMed
gnomAD
COSV1001560451106P>Qcosmic curated
rs13952015131107I>TEnsembl
rs20982256631108N>KTOPMed
rs1507877351108N>S1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel
rs1317901896
1109I>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
gnomAD
rs12031431991111R>LgnomAD
rs20982259801115M>KEnsembl
rs7788190471115M>LExAC
TOPMed
gnomAD
rs7477450761116D>EExAC
gnomAD
COSV56339591
rs575872758
1117A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
dbSNP
gnomAD
rs20982260801118L>PTOPMed
gnomAD
COSV1073923011122P>Tcosmic curated
COSV1001547731124T>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs7465408811128S>CExAC
gnomAD
COSV563408791128E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV563289631130L>Mcosmic curated
rs13030279351131K>NTOPMed
gnomAD
rs7579286491132D>GExAC
rs7775037201133K>QExAC
gnomAD
rs11707533841135R>HgnomAD
rs14515402341136V>ATOPMed
gnomAD
COSV563270781136E>Qcosmic curated
COSV563346231138V>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV563420731141N>Scosmic curated
COSV1058768171143Y>*cosmic curated
rs7567202581143R>GExAC
gnomAD
rs13047390831145K>QgnomAD
COSV56342931
rs988761440
1151V>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
rs14490113251154E>ATOPMed
rs7497794351155K>RExAC
gnomAD
COSV563267811156E>Qcosmic curated
rs21502262861156K>REnsembl
COSV563308581156E>Vcosmic curated
rs12625062991161T>ATOPMed
gnomAD
rs3734759971164D>EESP
TOPMed
COSV56326034
rs1247832319
1165R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV56339794
rs2098524833
1165R>Qcosmic curated
TOPMed
COSV1001533461168Q>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs3765092601170H>RESP
ExAC
gnomAD
rs7745238441170H>YExAC
gnomAD
rs13414090601172K>QgnomAD
COSV563344371176A>Tcosmic curated
rs7737702761177E>GExAC
gnomAD
COSV56327274
rs1188785212
1180R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs11608930121180K>RTOPMed
gnomAD
COSV1064503711181S>Fcosmic curated
rs11583142221182L>MgnomAD
rs11583142221182L>VgnomAD
rs20984636471184I>TEnsembl
COSV563282511185G>Dcosmic curated
COSV1001531741187L>Fcosmic curated
rs21502745211187K>R1000Genomes
rs1447182591188S>R1000Genomes
ExAC
COSV1001552391189G>Ccosmic curated
COSV563282411189G>Scosmic curated
COSV1060993671190V>Acosmic curated
rs20984637261190V>MEnsembl
COSV563357501193H>Ycosmic curated
COSV563286121195R>Gcosmic curated
COSV1001536771195R>Mcosmic curated
COSV56324241
COSV56343131
1201F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV563432331205R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs7754661791205A>SVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs20984638531205A>VEnsembl
COSV1058767551208K>Ecosmic curated
rs7698907241210G>*ExAC
gnomAD
rs7629432641212L>FExAC
rs14292835901213V>AgnomAD
COSV563401761213S>Ccosmic curated
rs20984999611213V>LgnomAD
COSV563298041215R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV563260581217G>Dcosmic curated
COSV1064504141223Y>*cosmic curated
COSV1073922641228G>Rcosmic curated
COSV1001543021232L>Icosmic curated
rs11847116971236C>REnsembl
rs3719901361236C>SESP
TOPMed
rs3719901361236C>YESP
TOPMed
rs7673412791237A>GExAC
gnomAD
rs7673412791237A>VExAC
gnomAD
rs563491021242V>IExAC
TOPMed
gnomAD
rs5608753891245D>A1000Genomes
ExAC
gnomAD
rs12732168931250Y>CTOPMed
rs12666302261252I>LgnomAD
rs13179018961258I>LgnomAD
rs14078632491259Q>HgnomAD
rs1848172701261S>G1000Genomes
ExAC
TOPMed
gnomAD
rs7648775091263K>RExAC
TOPMed
gnomAD
rs13384728441264P>HgnomAD
rs20985096491265H>DTOPMed
rs7578931241266A>GExAC
gnomAD
rs12650172571267I>VTOPMed
gnomAD
rs20985098181268I>VEnsembl
rs12548343921269I>TEnsembl
rs15774807881269I>VEnsembl
rs20985099061271P>LEnsembl
rs3766433491272N>SESP
ExAC
TOPMed
gnomAD
rs7813538961276M>VVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs15774814161280V>AEnsembl
rs14718655411280V>LTOPMed
gnomAD
rs14526054181285E>*gnomAD
rs20985101791287V>IEnsembl
rs7563000781289V>IExAC
gnomAD
rs14167841181294R>GTOPMed
gnomAD
rs9886107901295I>VEnsembl
rs20985104041300V>IEnsembl
rs3687497251301L>VESP
ExAC
TOPMed
gnomAD
rs20985104901306M>LTOPMed
rs20985105081306M>TTOPMed
rs14884119251315S>FTOPMed
gnomAD
rs7706073371316N>SExAC
gnomAD
rs12287718991317Q>KTOPMed
rs13408260221318T>ATOPMed
rs15593532011319M>VEnsembl
rs12363136141330S>CEnsembl
rs13893760601330S>TgnomAD
rs14180531971333T>IgnomAD
rs14275451761335H>R1000Genomes
gnomAD
rs11665921411336L>WgnomAD
rs20985252681343K>RTOPMed
rs7695743201348L>PExAC
gnomAD
rs13818121881350F>LgnomAD
rs7625738531354R>HExAC
TOPMed
gnomAD
rs14435008061359F>VTOPMed
rs7489993641363V>AExAC
gnomAD
rs14141174231364R>GTOPMed
gnomAD
rs11762654851365S>PgnomAD
rs9533744381366G>VTOPMed
rs11585255451368S>GgnomAD
rs14164333971375T>IgnomAD
rs13350741001378R>SgnomAD
rs14463183921382L>QgnomAD
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