Tag | Content |
---|---|
Uniprot ID | Q9HCD6; Q9HAC3; Q9NW88; Q9NXY9; Q9ULS2; |
Entrez ID | 26115 |
Genbank protein ID | CAB92314.1; BAB13462.2; BAA86462.2; |
Genbank nucleotide ID | NM_025185.3; XM_005257203.4; |
Ensembl protein ID | ENSP00000387593; ENSP00000374171; |
Ensembl nucleotide ID | ENSG00000170921 |
Gene name | Protein TANC2 |
Gene symbol | TANC2 |
Organism | Homo sapiens |
NCBI taxa ID | 9606 |
Cleft type | |
Developmental stage | |
Data sources | Manually collected |
Reference | 27033726 |
Functional description | Scaffolding protein in the dendritic spines which acts as immobile postsynaptic posts able to recruit KIF1A-driven dense core vesicles to dendritic spines. |
Sequence | MFRNSLKMLL TGGKSSRKNR SSDGGSEEPP DRRQSSVDSR QSRSGQGGIS TESDCAFEPD 60 YAVPPLPVSE GDAEQELGPP PSVDEAANTL MTRLGFLLGE KVTEVQPGDQ YSMEVQDENQ 120 TSAITQRISP CSTLTSSTAS PPASSPCSTL PPISTNATAK DCSYGAVTSP TSTLESRDSG 180 IIATLTSYSE NVERTKYAGE SSKELGSGGN IKPWQSQKSS MDSCLYRVDE NMTASTYSLN 240 KIPERNLETV LSQSVQSIPL YLMPRPNSVA ATSSAHLEDL AYLDEQRHTP LRTSLRMPRQ 300 SMGGARTQQD LRVRFAPYRP PDISLKPLLF EVPSITTESV FVGRDWVFHE IDAQLQSSNA 360 SVNQGVVIVG NIGFGKTAII SRLVALSCHG TRMRQIASDS PHASPKHVDA NRELPLTQPP 420 SAHSSITSGS CPGTPEMRRR QEEAMRRLAS QVVAYHYCQA DNAYTCLVPE FVHNVAALLC 480 RSPQLTAYRE QLLREPHLQS MLSLRSCVQD PMASFRRGVL EPLENLHKER KIPDEDFIIL 540 IDGLNEAEFH KPDYGDTIVS FLSKMIGKFP SWLKLIVTVR TSLQEITKLL PFHRIFLDRL 600 EENEAIDQDL QAYILHRIHS SSEIQNNISL NGKMDNTTFG KLSSHLKTLS QGSYLYLKLT 660 FDLIEKGYLV LKSSSYKVVP VSLSEVYLLQ CNMKFPTQSS FDRVMPLLNV AVASLHPLTD 720 EHIFQAINAG SIEGTLEWED FQQRMENLSM FLIKRRDMTR MFVHPSFREW LIWREEGEKT 780 KFLCDPRSGH TLLAFWFSRQ EGKLNRQQTI ELGHHILKAH IFKGLSKKVG VSSSILQGLW 840 ISYSTEGLSM ALASLRNLYT PNIKVSRLLI LGGANINYRT EVLNNAPILC VQSHLGYTEM 900 VALLLEFGAN VDASSESGLT PLGYAAAAGY LSIVVLLCKK RAKVDHLDKN GQCALVHAAL 960 RGHLEVVKFL IQCDWTMAGQ QQGVFKKSHA IQQALIAAAS MGYTEIVSYL LDLPEKDEEE 1020 VERAQINSFD SLWGETALTA AAGRGKLEVC RLLLEQGAAV AQPNRRGAVP LFSTVRQGHW 1080 QIVDLLLTHG ADVNMADKQG RTPLMMAASE GHLGTVDFLL AQGASIALMD KEGLTALSWA 1140 CLKGHLSVVR SLVDNGAATD HADKNGRTPL DLAAFYGDAE VVQFLVDHGA MIEHVDYSGM 1200 RPLDRAVGCR NTSVVVTLLK KGAKIGPATW AMATSKPDIM IILLSKLMEE GDMFYKKGKV 1260 KEAAQRYQYA LKKFPREGFG EDLKTFRELK VSLLLNLSRC RRKMNDFGMA EEFATKALEL 1320 KPKSYEAYYA RARAKRSSRQ FAAALEDLNE AIKLCPNNRE IQRLLLRVEE ECRQMQQPQQ 1380 PPPPPQPQQQ LPEEAEPEPQ HEDIYSVQDI FEEEYLEQDV ENVSIGLQTE ARPSQGLPVI 1440 QSPPSSPPHR DSAYISSSPL GSHQVFDFRS SSSVGSPTRQ TYQSTSPALS PTHQNSHYRP 1500 SPPHTSPAHQ GGSYRFSPPP VGGQGKEYPS PPPSPLRRGP QYRASPPAES MSVYRSQSGS 1560 PVRYQQETSV SQLPGRPKSP LSKMAQRPYQ MPQLPVAVPQ QGLRLQPAKA QIVRSNQPSP 1620 AVHSSTVIPT GAYGQVAHSM ASKYQSSQGD IGVSQSRLVY QGSIGGIVGD GRPVQHVQAS 1680 LSAGAICQHG GLTKEDLPQR PSSAYRGGVR YSQTPQIGRS QSASYYPVCH SKLDLERSSS 1740 QLGSPDVSHL IRRPISVNPN EIKPHPPTPR PLLHSQSVGL RFSPSSNSIS STSNLTPTFR 1800 PSSSIQQMEI PLKPAYERSC DELSPVSPTQ GGYPSEPTRS RTTPFMGIID KTARTQQYPH 1860 LHQQNRTWAV SSVDTVLSPT SPGNLPQPES FSPPSSISNI AFYNKTNNAQ NGHLLEDDYY 1920 SPHGMLANGS RGDLLERVSQ ASSYPDVKVA RTLPVAQAYQ DNLYRQLSRD SRQGQTSPIK 1980 PKRPFVESNV |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
---|---|---|---|---|---|---|---|---|
1:1 ortholog | TANC2 | F1PAF9 | Canis lupus familiaris | Prediction | More>> | |||
1:1 ortholog | TANC2 | A0A452DN91 | Capra hircus | Prediction | More>> | |||
1:1 ortholog | TANC2 | 26115 | Q9HCD6 | Homo sapiens | Publication | More>> | ||
1:1 ortholog | Tanc2 | 77097 | A2A690 | Mus musculus | Prediction | More>> | ||
1:1 ortholog | TANC2 | 454784 | H2QDM5 | Pan troglodytes | Prediction | More>> | ||
1:1 ortholog | TANC2 | F1RRV1 | Sus scrofa | Prediction | More>> | |||
1:1 ortholog | Tanc2 | 303599 | A0A0G2K9J0 | Rattus norvegicus | Prediction | More>> |
Gene symbol | Significant Variants/SNPS | Methods | PubMed ID |
---|---|---|---|
TANC2 | rs1588366 | Genotyping and GWAS | 27033726 |
ID | Variant | Type | Disease | Chromosome\Coordinate | Evidence |
---|---|---|---|---|---|
rs1293013054 | p.Phe2Ile | missense variant | - | NC_000017.11:g.63009563T>A | gnomAD |
rs762051832 | p.Arg3Gln | missense variant | - | NC_000017.11:g.63009567G>A | ExAC,TOPMed |
rs199889425 | p.Ser5Gly | missense variant | - | NC_000017.11:g.63009572A>G | 1000Genomes,ExAC,gnomAD |
COSM5429187 | p.Ser5Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63009573G>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Leu6Phe | missense variant | - | NC_000017.11:g.63009575C>T | NCI-TCGA |
rs376072973 | p.Thr11Ala | missense variant | - | NC_000017.11:g.63009590A>G | ESP,TOPMed |
rs751404068 | p.Gly12Ala | missense variant | - | NC_000017.11:g.63009594G>C | ExAC,gnomAD |
rs751404068 | p.Gly12Asp | missense variant | - | NC_000017.11:g.63009594G>A | ExAC,gnomAD |
rs1221837434 | p.Ser16Gly | missense variant | - | NC_000017.11:g.63009605A>G | TOPMed,gnomAD |
rs1271573443 | p.Ser16Asn | missense variant | - | NC_000017.11:g.63009606G>A | gnomAD |
rs759452024 | p.Arg17Cys | missense variant | - | NC_000017.11:g.63009608C>T | ExAC,TOPMed,gnomAD |
rs767416460 | p.Arg17His | missense variant | - | NC_000017.11:g.63009609G>A | ExAC,gnomAD |
rs201847314 | p.Lys18Arg | missense variant | - | NC_000017.11:g.63009612A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs755518950 | p.Asn19Ser | missense variant | - | NC_000017.11:g.63009615A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Arg20LysPheSerTerUnk | stop gained | - | NC_000017.11:g.63009616_63009617insAAATAAAAATTTAAAA | NCI-TCGA |
rs777377517 | p.Arg20Lys | missense variant | - | NC_000017.11:g.63009618G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Ser21LysPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.63009618_63009619insAAAAAAGAAAACTT | NCI-TCGA |
rs1452667303 | p.Ser22Asn | missense variant | - | NC_000017.11:g.63009624G>A | TOPMed |
rs753461149 | p.Asp23Glu | missense variant | - | NC_000017.11:g.63073944T>A | ExAC,gnomAD |
rs368947999 | p.Ser26Arg | missense variant | - | NC_000017.11:g.63073953C>G | ESP,ExAC,TOPMed,gnomAD |
rs764916506 | p.Glu27Lys | missense variant | - | NC_000017.11:g.63073954G>A | ExAC,gnomAD |
rs1279640435 | p.Glu28Lys | missense variant | - | NC_000017.11:g.63073957G>A | gnomAD |
rs1407515069 | p.Pro29Leu | missense variant | - | NC_000017.11:g.63073961C>T | TOPMed,gnomAD |
rs750115471 | p.Pro29Ala | missense variant | - | NC_000017.11:g.63073960C>G | ExAC,TOPMed,gnomAD |
rs1437062053 | p.Pro30Leu | missense variant | - | NC_000017.11:g.63073964C>T | TOPMed |
rs747441098 | p.Asp31Asn | missense variant | - | NC_000017.11:g.63073966G>A | ExAC,gnomAD |
rs1215467764 | p.Arg32Gln | missense variant | - | NC_000017.11:g.63073970G>A | TOPMed,gnomAD |
rs1468782400 | p.Arg32Gly | missense variant | - | NC_000017.11:g.63073969C>G | gnomAD |
rs1467980101 | p.Ser35Leu | missense variant | - | NC_000017.11:g.63073979C>T | gnomAD |
rs1198178736 | p.Ser36Asn | missense variant | - | NC_000017.11:g.63073982G>A | TOPMed,gnomAD |
rs755557492 | p.Ser36Arg | missense variant | - | NC_000017.11:g.63073983T>A | ExAC,TOPMed,gnomAD |
rs1198178736 | p.Ser36Thr | missense variant | - | NC_000017.11:g.63073982G>C | TOPMed,gnomAD |
rs781235539 | p.Asp38Glu | missense variant | - | NC_000017.11:g.63073989C>A | ExAC,gnomAD |
rs749544865 | p.Arg40Leu | missense variant | - | NC_000017.11:g.63073994G>T | ExAC,TOPMed,gnomAD |
rs183360210 | p.Arg40Cys | missense variant | - | NC_000017.11:g.63073993C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs183360210 | p.Arg40Ser | missense variant | - | NC_000017.11:g.63073993C>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Arg40ProPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.63073989_63073990CT>- | NCI-TCGA |
rs749544865 | p.Arg40His | missense variant | - | NC_000017.11:g.63073994G>A | ExAC,TOPMed,gnomAD |
rs183360210 | p.Arg40Gly | missense variant | - | NC_000017.11:g.63073993C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs760520399 | p.Arg43His | missense variant | - | NC_000017.11:g.63074003G>A | ExAC,TOPMed,gnomAD |
rs200043598 | p.Arg43Cys | missense variant | - | NC_000017.11:g.63074002C>T | ESP,ExAC,TOPMed,gnomAD |
rs1337050229 | p.Ser44Pro | missense variant | - | NC_000017.11:g.63074005T>C | gnomAD |
rs868711987 | p.Gly47Cys | missense variant | - | NC_000017.11:g.63074014G>T | gnomAD |
rs868711987 | p.Gly47Ser | missense variant | - | NC_000017.11:g.63074014G>A | gnomAD |
rs1194084981 | p.Gly48Asp | missense variant | - | NC_000017.11:g.63099178G>A | TOPMed,gnomAD |
rs1194084981 | p.Gly48Asp | missense variant | - | NC_000017.11:g.63099178G>A | NCI-TCGA |
rs1194084981 | p.Gly48Val | missense variant | - | NC_000017.11:g.63099178G>T | TOPMed,gnomAD |
rs777873115 | p.Ile49Asn | missense variant | - | NC_000017.11:g.63099181T>A | ExAC,TOPMed,gnomAD |
rs777873115 | p.Ile49Thr | missense variant | - | NC_000017.11:g.63099181T>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ser50Cys | missense variant | - | NC_000017.11:g.63099184C>G | NCI-TCGA |
rs1315894538 | p.Thr51Ala | missense variant | - | NC_000017.11:g.63099186A>G | TOPMed |
rs1255812940 | p.Glu52Lys | missense variant | - | NC_000017.11:g.63099189G>A | gnomAD |
rs373822154 | p.Asp54Asn | missense variant | - | NC_000017.11:g.63099195G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1375215908 | p.Asp54Gly | missense variant | - | NC_000017.11:g.63099196A>G | gnomAD |
rs746751671 | p.Cys55Ser | missense variant | - | NC_000017.11:g.63099199G>C | ExAC,TOPMed,gnomAD |
rs957239518 | p.Cys55Trp | missense variant | - | NC_000017.11:g.63099200T>G | TOPMed,gnomAD |
rs775147144 | p.Cys55Arg | missense variant | - | NC_000017.11:g.63099198T>C | ExAC,gnomAD |
rs746751671 | p.Cys55Tyr | missense variant | - | NC_000017.11:g.63099199G>A | ExAC,TOPMed,gnomAD |
rs1375554395 | p.Glu58Lys | missense variant | - | NC_000017.11:g.63099207G>A | gnomAD |
rs1436156823 | p.Asp60Gly | missense variant | - | NC_000017.11:g.63099214A>G | gnomAD |
rs768584624 | p.Tyr61Cys | missense variant | - | NC_000017.11:g.63099217A>G | ExAC,gnomAD |
rs377328939 | p.Ala62Thr | missense variant | - | NC_000017.11:g.63099219G>A | ESP,ExAC,TOPMed,gnomAD |
rs754479608 | p.Pro64Leu | missense variant | - | NC_000017.11:g.63099226C>T | ExAC,gnomAD |
rs751172282 | p.Pro65Ser | missense variant | - | NC_000017.11:g.63099228C>T | ExAC,gnomAD |
rs376757064 | p.Leu66Pro | missense variant | - | NC_000017.11:g.63099232T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs767889295 | p.Leu66Val | missense variant | - | NC_000017.11:g.63099231C>G | ExAC,gnomAD |
rs756666637 | p.Pro67Ser | missense variant | - | NC_000017.11:g.63099234C>T | NCI-TCGA |
rs756666637 | p.Pro67Ser | missense variant | - | NC_000017.11:g.63099234C>T | ExAC,TOPMed,gnomAD |
rs756666637 | p.Pro67Ala | missense variant | - | NC_000017.11:g.63099234C>G | ExAC,TOPMed,gnomAD |
rs754020906 | p.Val68Leu | missense variant | - | NC_000017.11:g.63099237G>T | ExAC,TOPMed,gnomAD |
rs1445736600 | p.Ser69Arg | missense variant | - | NC_000017.11:g.63099240A>C | gnomAD |
rs552420639 | p.Ser69Asn | missense variant | - | NC_000017.11:g.63099241G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs552420639 | p.Ser69Asn | missense variant | - | NC_000017.11:g.63099241G>A | NCI-TCGA,NCI-TCGA Cosmic |
rs1292553380 | p.Ser69Arg | missense variant | - | NC_000017.11:g.63099242T>G | TOPMed |
rs552420639 | p.Ser69Thr | missense variant | - | NC_000017.11:g.63099241G>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1395135042 | p.Glu70Gln | missense variant | - | NC_000017.11:g.63099243G>C | gnomAD |
rs779139258 | p.Glu70Ala | missense variant | - | NC_000017.11:g.63099244A>C | ExAC,gnomAD |
rs1205926778 | p.Gly71Asp | missense variant | - | NC_000017.11:g.63193991G>A | gnomAD |
rs769716095 | p.Asp72Glu | missense variant | - | NC_000017.11:g.63193995T>A | ExAC,TOPMed,gnomAD |
rs1482500371 | p.Leu77Phe | missense variant | - | NC_000017.11:g.63194008C>T | gnomAD |
rs749201325 | p.Pro79Ser | missense variant | - | NC_000017.11:g.63194014C>T | ExAC,gnomAD |
rs1420055688 | p.Pro80His | missense variant | - | NC_000017.11:g.63194018C>A | gnomAD |
rs770432077 | p.Pro80Ala | missense variant | - | NC_000017.11:g.63194017C>G | ExAC,gnomAD |
rs1420055688 | p.Pro80Arg | missense variant | - | NC_000017.11:g.63194018C>G | gnomAD |
rs1420055688 | p.Pro80Leu | missense variant | - | NC_000017.11:g.63194018C>T | gnomAD |
rs1368827241 | p.Glu85Asp | missense variant | - | NC_000017.11:g.63194034G>T | gnomAD |
NCI-TCGA novel | p.Glu85LeuPheSerTerUnk | frameshift | - | NC_000017.11:g.63194030_63194031insCC | NCI-TCGA |
rs780001108 | p.Ala86Thr | missense variant | - | NC_000017.11:g.63194035G>A | TOPMed,gnomAD |
rs760975964 | p.Leu90Ile | missense variant | - | NC_000017.11:g.63194047C>A | ExAC,TOPMed,gnomAD |
rs764388206 | p.Leu90His | missense variant | - | NC_000017.11:g.63194048T>A | ExAC,gnomAD |
rs1434782515 | p.Met91Thr | missense variant | - | NC_000017.11:g.63194051T>C | TOPMed |
rs1216857524 | p.Arg93Cys | missense variant | - | NC_000017.11:g.63194056C>T | TOPMed,gnomAD |
rs1017318392 | p.Arg93His | missense variant | - | NC_000017.11:g.63194057G>A | TOPMed,gnomAD |
rs1340900917 | p.Gly95Ser | missense variant | - | NC_000017.11:g.63194062G>A | gnomAD |
rs1024277687 | p.Leu98Ile | missense variant | - | NC_000017.11:g.63194071C>A | TOPMed |
rs1234548944 | p.Gly99Arg | missense variant | - | NC_000017.11:g.63194074G>A | TOPMed,gnomAD |
rs1234548944 | p.Gly99Arg | missense variant | - | NC_000017.11:g.63194074G>C | TOPMed,gnomAD |
rs374177469 | p.Lys101Thr | missense variant | - | NC_000017.11:g.63194081A>C | ESP,ExAC,TOPMed,gnomAD |
rs1189184480 | p.Lys101Asn | missense variant | - | NC_000017.11:g.63194082A>T | TOPMed |
rs1480699706 | p.Lys101Glu | missense variant | - | NC_000017.11:g.63194080A>G | TOPMed |
rs1440342044 | p.Thr103Ala | missense variant | - | NC_000017.11:g.63194086A>G | TOPMed,gnomAD |
rs1209090765 | p.Glu104Ala | missense variant | - | NC_000017.11:g.63194090A>C | gnomAD |
rs1186640212 | p.Val105Gly | missense variant | - | NC_000017.11:g.63194093T>G | gnomAD |
rs1486784756 | p.Val105Phe | missense variant | - | NC_000017.11:g.63194092G>T | gnomAD |
rs750587271 | p.Gly108Ser | missense variant | - | NC_000017.11:g.63194101G>A | ExAC,gnomAD |
rs1174496373 | p.Asp109Tyr | missense variant | - | NC_000017.11:g.63194104G>T | gnomAD |
rs542076646 | p.Gln110Glu | missense variant | - | NC_000017.11:g.63194107C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs542076646 | p.Gln110Lys | missense variant | - | NC_000017.11:g.63194107C>A | 1000Genomes,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Tyr111Ter | stop gained | - | NC_000017.11:g.63194112C>A | NCI-TCGA |
rs368358169 | p.Ser112Asn | missense variant | - | NC_000017.11:g.63194114G>A | ESP,ExAC,TOPMed,gnomAD |
rs755920448 | p.Met113Arg | missense variant | - | NC_000017.11:g.63194117T>G | ExAC,gnomAD |
rs1319198280 | p.Gln116Leu | missense variant | - | NC_000017.11:g.63194126A>T | gnomAD |
rs1440917384 | p.Gln120Arg | missense variant | - | NC_000017.11:g.63194138A>G | gnomAD |
rs766584396 | p.Thr121Ala | missense variant | - | NC_000017.11:g.63200771A>G | ExAC,gnomAD |
rs755191740 | p.Arg127Trp | missense variant | - | NC_000017.11:g.63200789C>T | ExAC,gnomAD |
rs371507266 | p.Arg127Gln | missense variant | - | NC_000017.11:g.63200790G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1292082774 | p.Ile128Val | missense variant | - | NC_000017.11:g.63200792A>G | gnomAD |
COSM982507 | p.Ser129Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63200797T>A | NCI-TCGA Cosmic |
rs753644514 | p.Thr133Ile | missense variant | - | NC_000017.11:g.63200808C>T | ExAC,gnomAD |
rs376672390 | p.Ser136Gly | missense variant | - | NC_000017.11:g.63200816A>G | ESP,ExAC,gnomAD |
rs745832485 | p.Ser137Asn | missense variant | - | NC_000017.11:g.63200820G>A | ExAC,gnomAD |
rs779580541 | p.Thr138Ile | missense variant | - | NC_000017.11:g.63200823C>T | ExAC |
NCI-TCGA novel | p.Thr138Ala | missense variant | - | NC_000017.11:g.63200822A>G | NCI-TCGA |
rs757864126 | p.Thr138Pro | missense variant | - | NC_000017.11:g.63200822A>C | ExAC |
rs746643663 | p.Ala139Ser | missense variant | - | NC_000017.11:g.63200825G>T | ExAC |
rs1180406160 | p.Ala139Val | missense variant | - | NC_000017.11:g.63200826C>T | gnomAD |
rs781614403 | p.Ser140Pro | missense variant | - | NC_000017.11:g.63200828T>C | ExAC |
COSM4822522 | p.Ser140Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63200829C>G | NCI-TCGA Cosmic |
rs770207350 | p.Pro141Leu | missense variant | - | NC_000017.11:g.63200832C>T | ExAC,gnomAD |
rs774620189 | p.Cys147Tyr | missense variant | - | NC_000017.11:g.63200850G>A | ExAC,gnomAD |
rs759802007 | p.Ser148Cys | missense variant | - | NC_000017.11:g.63200853C>G | ExAC,TOPMed,gnomAD |
rs767571631 | p.Thr149Ala | missense variant | - | NC_000017.11:g.63200855A>G | ExAC,gnomAD |
rs1355902651 | p.Pro152Arg | missense variant | - | NC_000017.11:g.63200865C>G | TOPMed,gnomAD |
rs117690040 | p.Ile153Thr | missense variant | - | NC_000017.11:g.63200868T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1235044719 | p.Ile153Val | missense variant | - | NC_000017.11:g.63200867A>G | gnomAD |
rs117690040 | p.Ile153Ser | missense variant | - | NC_000017.11:g.63200868T>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1355559251 | p.Ser154Asn | missense variant | - | NC_000017.11:g.63200871G>A | TOPMed,gnomAD |
NCI-TCGA novel | p.Thr155Lys | missense variant | - | NC_000017.11:g.63200874C>A | NCI-TCGA |
rs372846249 | p.Ala157Glu | missense variant | - | NC_000017.11:g.63200880C>A | ESP,ExAC,TOPMed,gnomAD |
rs1209255352 | p.Ala157Thr | missense variant | - | NC_000017.11:g.63200879G>A | gnomAD |
rs201042925 | p.Thr158Ala | missense variant | - | NC_000017.11:g.63200882A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs750331255 | p.Ala159Val | missense variant | - | NC_000017.11:g.63200886C>T | ExAC,gnomAD |
rs1419078798 | p.Lys160Glu | missense variant | - | NC_000017.11:g.63200888A>G | TOPMed |
rs375435674 | p.Asp161Asn | missense variant | - | NC_000017.11:g.63200891G>A | ESP,ExAC,gnomAD |
rs1206638765 | p.Ser163Thr | missense variant | - | NC_000017.11:g.63200898G>C | TOPMed,gnomAD |
rs1190217186 | p.Tyr164His | missense variant | - | NC_000017.11:g.63200900T>C | gnomAD |
rs1253248206 | p.Gly165Ala | missense variant | - | NC_000017.11:g.63200904G>C | TOPMed,gnomAD |
COSM2794558 | p.Gly165Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63200904G>A | NCI-TCGA Cosmic |
rs201520197 | p.Ala166Pro | missense variant | - | NC_000017.11:g.63200906G>C | 1000Genomes,ExAC,TOPMed,gnomAD |
COSM4068513 | p.Ala166Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63200907C>T | NCI-TCGA Cosmic |
rs201520197 | p.Ala166Ser | missense variant | - | NC_000017.11:g.63200906G>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1472767516 | p.Thr168Ile | missense variant | - | NC_000017.11:g.63200913C>T | gnomAD |
rs1028077442 | p.Ser169Gly | missense variant | - | NC_000017.11:g.63200915A>G | TOPMed |
COSM3520592 | p.Pro170Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63200918C>T | NCI-TCGA Cosmic |
rs1371904597 | p.Thr171Ser | missense variant | - | NC_000017.11:g.63200921A>T | gnomAD |
rs1371904597 | p.Thr171Ala | missense variant | - | NC_000017.11:g.63200921A>G | gnomAD |
rs1323298996 | p.Thr171Asn | missense variant | - | NC_000017.11:g.63200922C>A | TOPMed |
NCI-TCGA novel | p.Arg177Thr | missense variant | - | NC_000017.11:g.63200940G>C | NCI-TCGA |
rs747858720 | p.Arg177Lys | missense variant | - | NC_000017.11:g.63200940G>A | ExAC,gnomAD |
rs1344818284 | p.Thr186Ser | missense variant | - | NC_000017.11:g.63237822A>T | gnomAD |
rs1209899492 | p.Ser187Asn | missense variant | - | NC_000017.11:g.63237826G>A | TOPMed,gnomAD |
rs1209899492 | p.Ser187Thr | missense variant | - | NC_000017.11:g.63237826G>C | TOPMed,gnomAD |
rs755877273 | p.Ser189Cys | missense variant | - | NC_000017.11:g.63237832C>G | ExAC,TOPMed,gnomAD |
rs755877273 | p.Ser189Tyr | missense variant | - | NC_000017.11:g.63237832C>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Asn191LysPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.63237834_63237835insA | NCI-TCGA |
rs1188923003 | p.Val192Leu | missense variant | - | NC_000017.11:g.63237840G>T | TOPMed |
rs144412511 | p.Arg194His | missense variant | - | NC_000017.11:g.63237847G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs377601940 | p.Arg194Cys | missense variant | - | NC_000017.11:g.63237846C>T | ESP,ExAC,TOPMed,gnomAD |
rs564167660 | p.Lys196Gln | missense variant | - | NC_000017.11:g.63237852A>C | 1000Genomes,ExAC,gnomAD |
rs1196364888 | p.Ala198Ser | missense variant | - | NC_000017.11:g.63237858G>T | gnomAD |
rs746422304 | p.Gly199Glu | missense variant | - | NC_000017.11:g.63237862G>A | ExAC,TOPMed,gnomAD |
rs1264414343 | p.Glu200Asp | missense variant | - | NC_000017.11:g.63237866A>C | TOPMed |
rs1242004650 | p.Ser201Gly | missense variant | - | NC_000017.11:g.63237867A>G | TOPMed |
rs1454183238 | p.Ser201Ile | missense variant | - | NC_000017.11:g.63237868G>T | gnomAD |
rs1161108951 | p.Ser202Gly | missense variant | - | NC_000017.11:g.63237870A>G | gnomAD |
COSM4835355 | p.Gly209Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63237892G>A | NCI-TCGA Cosmic |
rs549495715 | p.Asn210Ile | missense variant | - | NC_000017.11:g.63237895A>T | 1000Genomes,ExAC,gnomAD |
rs775688847 | p.Ile211Val | missense variant | - | NC_000017.11:g.63237897A>G | ExAC,gnomAD |
rs1368453607 | p.Ile211Met | missense variant | - | NC_000017.11:g.63237899A>G | gnomAD |
rs747187471 | p.Lys212Gln | missense variant | - | NC_000017.11:g.63237900A>C | ExAC,gnomAD |
rs1299545972 | p.Pro213Thr | missense variant | - | NC_000017.11:g.63237903C>A | gnomAD |
rs1229328527 | p.Trp214Cys | missense variant | - | NC_000017.11:g.63237908G>T | gnomAD |
rs762674905 | p.Gln215Lys | missense variant | - | NC_000017.11:g.63237909C>A | ExAC,gnomAD |
rs1208696125 | p.Ser219Cys | missense variant | - | NC_000017.11:g.63237922C>G | gnomAD |
NCI-TCGA novel | p.Ser220ThrPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.63237922_63237923insAACTCAAGATA | NCI-TCGA |
rs1265491241 | p.Ser220Gly | missense variant | - | NC_000017.11:g.63237924A>G | gnomAD |
rs1189097027 | p.Met221Thr | missense variant | - | NC_000017.11:g.63237928T>C | gnomAD |
rs201315770 | p.Met221Val | missense variant | - | NC_000017.11:g.63237927A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1318746309 | p.Ser223Phe | missense variant | - | NC_000017.11:g.63237934C>T | TOPMed |
rs759558896 | p.Cys224Ser | missense variant | - | NC_000017.11:g.63237937G>C | ExAC,TOPMed,gnomAD |
rs1391526265 | p.Tyr226Cys | missense variant | - | NC_000017.11:g.63237943A>G | TOPMed |
rs1409531518 | p.Arg227Gln | missense variant | - | NC_000017.11:g.63237946G>A | gnomAD |
NCI-TCGA novel | p.Arg227Ter | stop gained | - | NC_000017.11:g.63237945C>T | NCI-TCGA |
rs1292956002 | p.Val228Ala | missense variant | - | NC_000017.11:g.63237949T>C | TOPMed |
rs1372278222 | p.Asn231Ile | missense variant | - | NC_000017.11:g.63237958A>T | TOPMed |
rs763783613 | p.Ala234Pro | missense variant | - | NC_000017.11:g.63237966G>C | ExAC,gnomAD |
rs548539914 | p.Thr236Ser | missense variant | - | NC_000017.11:g.63237973C>G | 1000Genomes,ExAC,gnomAD |
rs1459446240 | p.Thr236Ala | missense variant | - | NC_000017.11:g.63237972A>G | gnomAD |
rs757656357 | p.Tyr237Cys | missense variant | - | NC_000017.11:g.63237976A>G | ExAC,TOPMed,gnomAD |
rs1448615712 | p.Ser238Arg | missense variant | - | NC_000017.11:g.63237980T>G | TOPMed |
rs1290562918 | p.Asn240Ser | missense variant | - | NC_000017.11:g.63237985A>G | gnomAD |
rs779376027 | p.Ile242Phe | missense variant | - | NC_000017.11:g.63237990A>T | ExAC |
rs370972389 | p.Pro243Leu | missense variant | - | NC_000017.11:g.63237994C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1314150006 | p.Glu244Lys | missense variant | - | NC_000017.11:g.63237996G>A | gnomAD |
rs1200536468 | p.Glu244Val | missense variant | - | NC_000017.11:g.63237997A>T | TOPMed |
rs779995743 | p.Glu244Asp | missense variant | - | NC_000017.11:g.63237998G>T | ExAC,gnomAD |
rs375527040 | p.Arg245Lys | missense variant | - | NC_000017.11:g.63238000G>A | ESP,ExAC,TOPMed,gnomAD |
rs1264374457 | p.Leu247Ser | missense variant | - | NC_000017.11:g.63238006T>C | TOPMed,gnomAD |
rs768734001 | p.Thr249Ile | missense variant | - | NC_000017.11:g.63238012C>T | ExAC,TOPMed,gnomAD |
rs1182234949 | p.Gln253Arg | missense variant | - | NC_000017.11:g.63238024A>G | gnomAD |
rs748397247 | p.Ser254Ala | missense variant | - | NC_000017.11:g.63238026T>G | ExAC,gnomAD |
NCI-TCGA novel | p.Gln256Leu | missense variant | - | NC_000017.11:g.63238033A>T | NCI-TCGA |
rs1321681097 | p.Ile258Val | missense variant | - | NC_000017.11:g.63238038A>G | TOPMed,gnomAD |
rs534965097 | p.Met263Ile | missense variant | - | NC_000017.11:g.63238055G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs767556585 | p.Met263Val | missense variant | - | NC_000017.11:g.63238053A>G | ExAC,gnomAD |
rs534965097 | p.Met263Ile | missense variant | - | NC_000017.11:g.63238055G>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs760215311 | p.Arg265Trp | missense variant | - | NC_000017.11:g.63238059C>T | ExAC,TOPMed,gnomAD |
rs1235906366 | p.Arg265Gln | missense variant | - | NC_000017.11:g.63238060G>A | TOPMed |
rs1178990187 | p.His276Arg | missense variant | - | NC_000017.11:g.63267763A>G | TOPMed |
rs778567291 | p.Asp279Gly | missense variant | - | NC_000017.11:g.63267772A>G | ExAC,gnomAD |
rs898876116 | p.Ala281Thr | missense variant | - | NC_000017.11:g.63267777G>A | TOPMed |
rs1162654174 | p.Tyr282Cys | missense variant | - | NC_000017.11:g.63267781A>G | gnomAD |
rs745608593 | p.Asp284Gly | missense variant | - | NC_000017.11:g.63267787A>G | ExAC,gnomAD |
rs1475191387 | p.Gln286Glu | missense variant | - | NC_000017.11:g.63267792C>G | gnomAD |
rs370855180 | p.Gln286Arg | missense variant | - | NC_000017.11:g.63267793A>G | ESP,ExAC,TOPMed,gnomAD |
rs1486492513 | p.Arg287Thr | missense variant | - | NC_000017.11:g.63267796G>C | TOPMed |
rs373961923 | p.His288Arg | missense variant | - | NC_000017.11:g.63267799A>G | ESP,ExAC,TOPMed,gnomAD |
rs776342589 | p.Thr289Pro | missense variant | - | NC_000017.11:g.63267801A>C | ExAC,gnomAD |
rs761556714 | p.Thr289Ile | missense variant | - | NC_000017.11:g.63267802C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Thr289Ala | missense variant | - | NC_000017.11:g.63267801A>G | NCI-TCGA |
rs764880643 | p.Pro290Ala | missense variant | - | NC_000017.11:g.63267804C>G | ExAC,gnomAD |
COSM706524 | p.Ser294Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63267817C>T | NCI-TCGA Cosmic |
COSM1385110 | p.Ser294Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63267817C>A | NCI-TCGA Cosmic |
rs763326514 | p.Arg296Gln | missense variant | - | NC_000017.11:g.63267823G>A | ExAC,gnomAD |
rs766681632 | p.Met297Val | missense variant | - | NC_000017.11:g.63267825A>G | ExAC,gnomAD |
rs752026592 | p.Pro298Ala | missense variant | - | NC_000017.11:g.63267828C>G | ExAC,TOPMed,gnomAD |
COSM982511 | p.Pro298Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63267828C>T | NCI-TCGA Cosmic |
rs755523835 | p.Arg299Ser | missense variant | - | NC_000017.11:g.63267833A>T | ExAC,gnomAD |
rs1268551911 | p.Gln300Lys | missense variant | - | NC_000017.11:g.63267834C>A | gnomAD |
rs1268551911 | p.Gln300Glu | missense variant | - | NC_000017.11:g.63267834C>G | gnomAD |
rs944064015 | p.Gly303Asp | missense variant | - | NC_000017.11:g.63267844G>A | TOPMed,gnomAD |
rs756151305 | p.Arg306Leu | missense variant | - | NC_000017.11:g.63267853G>T | ExAC,TOPMed,gnomAD |
rs756151305 | p.Arg306His | missense variant | - | NC_000017.11:g.63267853G>A | ExAC,TOPMed,gnomAD |
rs752840067 | p.Arg306Cys | missense variant | - | NC_000017.11:g.63267852C>T | ExAC,TOPMed,gnomAD |
rs1440480178 | p.Thr307Pro | missense variant | - | NC_000017.11:g.63267855A>C | TOPMed |
rs774755576 | p.Arg314His | missense variant | - | NC_000017.11:g.63314391G>A | ExAC,TOPMed,gnomAD |
rs766703437 | p.Arg314Cys | missense variant | - | NC_000017.11:g.63314390C>T | ExAC,TOPMed,gnomAD |
rs1356974520 | p.Phe315Ser | missense variant | - | NC_000017.11:g.63314394T>C | gnomAD |
rs760032068 | p.Ala316Val | missense variant | - | NC_000017.11:g.63314397C>T | ExAC,TOPMed,gnomAD |
rs373599249 | p.Pro317Ser | missense variant | - | NC_000017.11:g.63314399C>T | ESP,ExAC,gnomAD |
NCI-TCGA novel | p.Pro317Leu | missense variant | - | NC_000017.11:g.63314400C>T | NCI-TCGA |
NCI-TCGA novel | p.Pro317Thr | missense variant | - | NC_000017.11:g.63314399C>A | NCI-TCGA |
rs1450050054 | p.Arg319Thr | missense variant | - | NC_000017.11:g.63314406G>C | gnomAD |
rs188282938 | p.Pro321Ala | missense variant | - | NC_000017.11:g.63314411C>G | 1000Genomes |
rs756181350 | p.Asp322Gly | missense variant | - | NC_000017.11:g.63314415A>G | ExAC,gnomAD |
rs764122149 | p.Ile323Thr | missense variant | - | NC_000017.11:g.63314418T>C | ExAC,gnomAD |
COSM6147668 | p.Ile323Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63314417A>G | NCI-TCGA Cosmic |
rs565290187 | p.Pro327Ala | missense variant | - | NC_000017.11:g.63314429C>G | 1000Genomes,ExAC,gnomAD |
rs575715567 | p.Val332Met | missense variant | - | NC_000017.11:g.63314444G>A | 1000Genomes |
rs779994723 | p.Pro333Arg | missense variant | - | NC_000017.11:g.63314448C>G | ExAC |
rs754837305 | p.Ile335Val | missense variant | - | NC_000017.11:g.63314453A>G | ExAC,gnomAD |
rs781229986 | p.Ile335Met | missense variant | - | NC_000017.11:g.63314455C>G | ExAC,gnomAD |
rs1308322956 | p.Thr336Ile | missense variant | - | NC_000017.11:g.63314457C>T | gnomAD |
NCI-TCGA novel | p.Glu338Ter | stop gained | - | NC_000017.11:g.63314462G>T | NCI-TCGA |
COSM3820169 | p.Glu338Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63314462G>C | NCI-TCGA Cosmic |
COSM982516 | p.Phe341Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63314472T>C | NCI-TCGA Cosmic |
rs749094947 | p.Arg344Gln | missense variant | - | NC_000017.11:g.63314481G>A | ExAC,TOPMed,gnomAD |
rs772644087 | p.Trp346Arg | missense variant | - | NC_000017.11:g.63314486T>A | ExAC,gnomAD |
rs367733202 | p.Phe348Tyr | missense variant | - | NC_000017.11:g.63314493T>A | ESP,ExAC,gnomAD |
rs773996052 | p.Glu350Lys | missense variant | - | NC_000017.11:g.63314498G>A | ExAC,TOPMed,gnomAD |
rs887084046 | p.Ile351Thr | missense variant | - | NC_000017.11:g.63314502T>C | TOPMed,gnomAD |
rs759835968 | p.Asp352Val | missense variant | - | NC_000017.11:g.63314505A>T | ExAC,gnomAD |
rs767889438 | p.Asp352Glu | missense variant | - | NC_000017.11:g.63314506T>A | ExAC,gnomAD |
rs1397456251 | p.Ala353Val | missense variant | - | NC_000017.11:g.63314508C>T | TOPMed |
rs776036126 | p.Gln354His | missense variant | - | NC_000017.11:g.63314512A>T | ExAC,TOPMed,gnomAD |
rs1190283777 | p.Gln356Lys | missense variant | - | NC_000017.11:g.63314516C>A | gnomAD |
rs761135261 | p.Ser357Ile | missense variant | - | NC_000017.11:g.63314520G>T | ExAC,TOPMed,gnomAD |
rs761135261 | p.Ser357Asn | missense variant | - | NC_000017.11:g.63314520G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ser358Pro | missense variant | - | NC_000017.11:g.63314522T>C | NCI-TCGA |
rs764221772 | p.Asn359Ser | missense variant | - | NC_000017.11:g.63314526A>G | ExAC,gnomAD |
rs1168683428 | p.Ala360Thr | missense variant | - | NC_000017.11:g.63314528G>A | TOPMed,gnomAD |
rs1391576299 | p.Ser361Thr | missense variant | - | NC_000017.11:g.63314532G>C | TOPMed,gnomAD |
rs757422430 | p.Val362Met | missense variant | - | NC_000017.11:g.63314534G>A | ExAC,TOPMed,gnomAD |
rs750699899 | p.Val366Ile | missense variant | - | NC_000017.11:g.63314546G>A | ExAC,TOPMed,gnomAD |
rs774309244 | p.Val367Leu | missense variant | - | NC_000017.11:g.63314549G>C | ExAC,TOPMed,gnomAD |
COSM5178865 | p.Val367Ala | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63314550T>C | NCI-TCGA Cosmic |
rs774309244 | p.Val367Met | missense variant | - | NC_000017.11:g.63314549G>A | ExAC,TOPMed,gnomAD |
rs1298452004 | p.Ile368Val | missense variant | - | NC_000017.11:g.63314552A>G | gnomAD |
rs756060797 | p.Val369Met | missense variant | - | NC_000017.11:g.63314555G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Gly370Glu | missense variant | - | NC_000017.11:g.63314559G>A | NCI-TCGA |
NCI-TCGA novel | p.Asn371Ser | missense variant | - | NC_000017.11:g.63314562A>G | NCI-TCGA |
rs1461277488 | p.Ala378Gly | missense variant | - | NC_000017.11:g.63314583C>G | gnomAD |
rs150364213 | p.Ile379Val | missense variant | - | NC_000017.11:g.63314585A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs964160016 | p.Ile380Val | missense variant | - | NC_000017.11:g.63314588A>G | TOPMed,gnomAD |
rs745560986 | p.Leu386Val | missense variant | - | NC_000017.11:g.63314606C>G | ExAC,gnomAD |
rs775775457 | p.Ser387Asn | missense variant | - | NC_000017.11:g.63314610G>A | ExAC,gnomAD |
rs1170607520 | p.His389Arg | missense variant | - | NC_000017.11:g.63314616A>G | gnomAD |
rs1450898417 | p.Gly390Arg | missense variant | - | NC_000017.11:g.63314618G>C | TOPMed |
rs761240810 | p.Thr391Arg | missense variant | - | NC_000017.11:g.63314622C>G | ExAC,gnomAD |
rs1321266433 | p.Met393Leu | missense variant | - | NC_000017.11:g.63314627A>T | gnomAD |
rs1295212416 | p.Ala397Ser | missense variant | - | NC_000017.11:g.63314639G>T | gnomAD |
COSM982518 | p.Ala397Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63314639G>A | NCI-TCGA Cosmic |
rs1334014676 | p.Ala397Val | missense variant | - | NC_000017.11:g.63314640C>T | TOPMed |
rs369559231 | p.Asp399Gly | missense variant | - | NC_000017.11:g.63314646A>G | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Pro401Ala | missense variant | - | NC_000017.11:g.63314651C>G | NCI-TCGA |
COSM3520596 | p.Pro401Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63314652C>T | NCI-TCGA Cosmic |
rs765441426 | p.Pro405Arg | missense variant | - | NC_000017.11:g.63314664C>G | ExAC,TOPMed,gnomAD |
rs765441426 | p.Pro405His | missense variant | - | NC_000017.11:g.63314664C>A | ExAC,TOPMed,gnomAD |
rs1323407265 | p.Pro405Ala | missense variant | - | NC_000017.11:g.63314663C>G | gnomAD |
rs372517614 | p.His407Tyr | missense variant | - | NC_000017.11:g.63314669C>T | ESP,ExAC,TOPMed,gnomAD |
rs372517614 | p.His407Asn | missense variant | - | NC_000017.11:g.63314669C>A | ESP,ExAC,TOPMed,gnomAD |
rs1184703786 | p.Val408Met | missense variant | - | NC_000017.11:g.63318959G>A | TOPMed |
rs200724320 | p.Asp409Val | missense variant | - | NC_000017.11:g.63318963A>T | ESP,ExAC,TOPMed,gnomAD |
rs200724320 | p.Asp409Gly | missense variant | - | NC_000017.11:g.63318963A>G | ESP,ExAC,TOPMed,gnomAD |
rs769969806 | p.Asp409Asn | missense variant | - | NC_000017.11:g.63318962G>A | ExAC,TOPMed,gnomAD |
rs763259864 | p.Asn411Tyr | missense variant | - | NC_000017.11:g.63318968A>T | ExAC,TOPMed,gnomAD |
rs1418458184 | p.Asn411Ile | missense variant | - | NC_000017.11:g.63318969A>T | gnomAD |
rs766443905 | p.Glu413Asp | missense variant | - | NC_000017.11:g.63318976G>C | ExAC,TOPMed,gnomAD |
rs1365191835 | p.Leu416Pro | missense variant | - | NC_000017.11:g.63318984T>C | gnomAD |
rs763979750 | p.Leu416Phe | missense variant | - | NC_000017.11:g.63318983C>T | ExAC,gnomAD |
rs577705394 | p.Thr417Ser | missense variant | - | NC_000017.11:g.63318986A>T | ExAC,gnomAD |
rs577705394 | p.Thr417Ala | missense variant | - | NC_000017.11:g.63318986A>G | ExAC,gnomAD |
rs1371758873 | p.Pro419Leu | missense variant | - | NC_000017.11:g.63318993C>T | gnomAD |
rs778390901 | p.Pro420Arg | missense variant | - | NC_000017.11:g.63318996C>G | ExAC,gnomAD |
NCI-TCGA novel | p.Ser421Leu | missense variant | - | NC_000017.11:g.63318999C>T | NCI-TCGA |
rs749869278 | p.Ala422Val | missense variant | - | NC_000017.11:g.63319002C>T | ExAC,TOPMed,gnomAD |
rs376018871 | p.His423Leu | missense variant | - | NC_000017.11:g.63319005A>T | ESP,ExAC,TOPMed,gnomAD |
rs369292271 | p.Ser424Leu | missense variant | - | NC_000017.11:g.63319008C>T | ESP,ExAC,TOPMed,gnomAD |
rs753217237 | p.Ile426Val | missense variant | - | NC_000017.11:g.63319013A>G | ExAC,TOPMed,gnomAD |
rs768874285 | p.Ser428Asn | missense variant | - | NC_000017.11:g.63319020G>A | ExAC |
COSM3520598 | p.Thr434Ala | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63319037A>G | NCI-TCGA Cosmic |
rs1386169242 | p.Pro435Leu | missense variant | - | NC_000017.11:g.63319041C>T | TOPMed |
COSM706519 | p.Glu436Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63319043G>A | NCI-TCGA Cosmic |
rs1480252971 | p.Arg438Cys | missense variant | - | NC_000017.11:g.63319049C>T | gnomAD |
rs770485904 | p.Arg438Leu | missense variant | - | NC_000017.11:g.63319050G>T | ExAC,TOPMed,gnomAD |
rs770485904 | p.Arg438His | missense variant | - | NC_000017.11:g.63319050G>A | ExAC,TOPMed,gnomAD |
rs199541150 | p.Arg440Trp | missense variant | - | NC_000017.11:g.63319055C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs778411760 | p.Arg440Gln | missense variant | - | NC_000017.11:g.63319056G>A | ExAC,TOPMed,gnomAD |
rs1250494970 | p.Gln441Lys | missense variant | - | NC_000017.11:g.63319058C>A | TOPMed |
COSM3692009 | p.Glu442Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63319063G>T | NCI-TCGA Cosmic |
rs774394103 | p.Met445Val | missense variant | - | NC_000017.11:g.63319070A>G | ExAC,gnomAD |
rs1170839144 | p.Met445Ile | missense variant | - | NC_000017.11:g.63319072G>A | gnomAD |
rs1353171827 | p.Arg446Gly | missense variant | - | NC_000017.11:g.63319073C>G | gnomAD |
COSM5138367 | p.Arg446Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.63319073C>T | NCI-TCGA Cosmic |
rs202242128 | p.Arg446Gln | missense variant | - | NC_000017.11:g.63319074G>A | ESP,ExAC,TOPMed,gnomAD |
rs554015043 | p.Leu448Pro | missense variant | - | NC_000017.11:g.63319080T>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ala449Val | missense variant | - | NC_000017.11:g.63319083C>T | NCI-TCGA |
rs750275507 | p.Ser450Leu | missense variant | - | NC_000017.11:g.63319086C>T | ExAC,gnomAD |
rs1321365646 | p.Val452Leu | missense variant | - | NC_000017.11:g.63340101G>C | gnomAD |
rs773104858 | p.Val453Ile | missense variant | - | NC_000017.11:g.63340104G>A | ExAC,gnomAD |
rs763000493 | p.Ala454Val | missense variant | - | NC_000017.11:g.63340108C>T | ExAC,gnomAD |
rs376257499 | p.Tyr455Cys | missense variant | - | NC_000017.11:g.63340111A>G | ESP,ExAC,TOPMed,gnomAD |
rs745539155 | p.Tyr457Ser | missense variant | - | NC_000017.11:g.63340117A>C | ExAC,TOPMed,gnomAD |
rs745539155 | p.Tyr457Cys | missense variant | - | NC_000017.11:g.63340117A>G | ExAC,TOPMed,gnomAD |
rs1475194628 | p.Asp461Glu | missense variant | - | NC_000017.11:g.63340130T>A | gnomAD |
rs1192176613 | p.Asn462Ser | missense variant | - | NC_000017.11:g.63340132A>G | gnomAD |
rs1379360999 | p.Pro469Leu | missense variant | - | NC_000017.11:g.63340153C>T | TOPMed |
rs1176260039 | p.His473Arg | missense variant | - | NC_000017.11:g.63340165A>G | gnomAD |
rs886689708 | p.Asn474Ser | missense variant | - | NC_000017.11:g.63340168A>G | TOPMed,gnomAD |
rs752419482 | p.Val475Ile | missense variant | - | NC_000017.11:g.63340170G>A | ExAC,gnomAD |
rs1343347708 | p.Leu479Phe | missense variant | - | NC_000017.11:g.63340182C>T | gnomAD |
rs200481329 | p.Arg481His | missense variant | - | NC_000017.11:g.63340189G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs200481329 | p.Arg481Leu | missense variant | - | NC_000017.11:g.63340189G>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs757851333 | p.Arg481Cys | missense variant | - | NC_000017.11:g.63340188C>T | ExAC,gnomAD |
rs1016421071 | p.Ser482Pro | missense variant | - | NC_000017.11:g.63340191T>C | TOPMed |
rs745904981 | p.Pro483Leu | missense variant | - | NC_000017.11:g.63340195C>T | ExAC,TOPMed,gnomAD |
rs745904981 | p.Pro483Arg | missense variant | - | NC_000017.11:g.63340195C>G | ExAC,TOPMed,gnomAD |
rs772164592 | p.Gln484His | missense variant | - | NC_000017.11:g.63340199G>T | ExAC,gnomAD |
rs1221110322 | p.Gln484Arg | missense variant | - | NC_000017.11:g.63340198A>G | TOPMed,gnomAD |
rs1221110322 | p.Gln484Pro | missense variant | - | NC_000017.11:g.63340198A>C | TOPMed,gnomAD |
NCI-TCGA novel | p.Arg489Gln | missense variant | - | NC_000017.11:g.63340213G>A | NCI-TCGA |
rs1222518321 | p.Glu490Asp | missense variant | - | NC_000017.11:g.63340217G>C | gnomAD |
rs1271505862 | p.Leu492His | missense variant | - | NC_000017.11:g.63340222T>A | gnomAD |
rs1489982477 | p.Leu493Phe | missense variant | - | NC_000017.11:g.63340224C>T | TOPMed,gnomAD |
NCI-TCGA novel | p.Leu493Val | missense variant | - | NC_000017.11:g.63340224C>G | NCI-TCGA |
COSM982520 | p.Leu493Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63340224C>A | NCI-TCGA Cosmic |
rs746776222 | p.Arg494Trp | missense variant | - | NC_000017.11:g.63340227C>T | TOPMed |
rs780211899 | p.Arg494Gln | missense variant | - | NC_000017.11:g.63340228G>A | ExAC,TOPMed,gnomAD |
rs746776222 | p.Arg494Gly | missense variant | - | NC_000017.11:g.63340227C>G | TOPMed |
rs747276639 | p.Glu495Lys | missense variant | - | NC_000017.11:g.63340230G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Glu495Ter | stop gained | - | NC_000017.11:g.63340230G>T | NCI-TCGA |
rs189418855 | p.His497Tyr | missense variant | - | NC_000017.11:g.63340236C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs189418855 | p.His497Asn | missense variant | - | NC_000017.11:g.63340236C>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs762791990 | p.Leu498Val | missense variant | - | NC_000017.11:g.63340239C>G | ExAC,TOPMed,gnomAD |
rs1237656513 | p.Ser500Asn | missense variant | - | NC_000017.11:g.63340246G>A | TOPMed |
rs770832810 | p.Met501Ile | missense variant | - | NC_000017.11:g.63340250G>A | ExAC,gnomAD |
rs759037186 | p.Leu504Val | missense variant | - | NC_000017.11:g.63340257C>G | ExAC,gnomAD |
rs767165738 | p.Arg505Cys | missense variant | - | NC_000017.11:g.63340260C>T | ExAC,gnomAD |
rs752366326 | p.Arg505His | missense variant | - | NC_000017.11:g.63340261G>A | ExAC,gnomAD |
rs764550479 | p.Pro511Thr | missense variant | - | NC_000017.11:g.63340278C>A | ExAC,gnomAD |
rs754165842 | p.Pro511Arg | missense variant | - | NC_000017.11:g.63340279C>G | ExAC,gnomAD |
rs199687343 | p.Met512Val | missense variant | - | NC_000017.11:g.63340281A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs199687343 | p.Met512Leu | missense variant | - | NC_000017.11:g.63340281A>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1298564410 | p.Met512Lys | missense variant | - | NC_000017.11:g.63340282T>A | TOPMed |
rs750928211 | p.Ala513Val | missense variant | - | NC_000017.11:g.63340285C>T | ExAC,gnomAD |
rs1383716664 | p.Ser514Phe | missense variant | - | NC_000017.11:g.63340288C>T | TOPMed |
rs140111765 | p.Arg516Gln | missense variant | - | NC_000017.11:g.63340294G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs552429950 | p.Arg516Trp | missense variant | - | NC_000017.11:g.63340293C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs768930153 | p.Arg517Met | missense variant | - | NC_000017.11:g.63340297G>T | ExAC,TOPMed,gnomAD |
rs1252944140 | p.Val519Ile | missense variant | - | NC_000017.11:g.63340302G>A | gnomAD |
COSM982522 | p.Leu520Met | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63340305C>A | NCI-TCGA Cosmic |
rs1245874300 | p.Glu521Gly | missense variant | - | NC_000017.11:g.63340309A>G | gnomAD |
NCI-TCGA novel | p.Glu524Lys | missense variant | - | NC_000017.11:g.63340317G>A | NCI-TCGA |
rs966639090 | p.Asn525Asp | missense variant | - | NC_000017.11:g.63340320A>G | TOPMed |
rs749051087 | p.Leu526Ile | missense variant | - | NC_000017.11:g.63340323C>A | ExAC,gnomAD |
rs770650572 | p.His527Tyr | missense variant | - | NC_000017.11:g.63340326C>T | ExAC,gnomAD |
rs1195701426 | p.Lys528Arg | missense variant | - | NC_000017.11:g.63340330A>G | TOPMed |
rs780099779 | p.Asp536Tyr | missense variant | - | NC_000017.11:g.63351270G>T | ExAC,gnomAD |
rs1167087436 | p.Phe537Leu | missense variant | - | NC_000017.11:g.63351275C>G | gnomAD |
rs751568613 | p.Ile538Asn | missense variant | - | NC_000017.11:g.63351277T>A | ExAC,gnomAD |
rs755062134 | p.Ile539Val | missense variant | - | NC_000017.11:g.63351279A>G | ExAC,TOPMed,gnomAD |
rs1338809536 | p.Leu540Ser | missense variant | - | NC_000017.11:g.63351283T>C | gnomAD |
rs987148166 | p.Ile541Thr | missense variant | - | NC_000017.11:g.63351286T>C | TOPMed |
rs912986449 | p.Leu544Val | missense variant | - | NC_000017.11:g.63351294T>G | TOPMed |
rs1403928856 | p.Glu546Ala | missense variant | - | NC_000017.11:g.63351301A>C | gnomAD |
rs748348737 | p.Lys551Asn | missense variant | - | NC_000017.11:g.63351317A>C | ExAC,gnomAD |
rs1323343392 | p.Pro552Leu | missense variant | - | NC_000017.11:g.63351319C>T | gnomAD |
rs1328411559 | p.Pro552Ala | missense variant | - | NC_000017.11:g.63351318C>G | TOPMed,gnomAD |
COSM437095 | p.Asp553Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63351321G>T | NCI-TCGA Cosmic |
rs1269945617 | p.Tyr554Cys | missense variant | - | NC_000017.11:g.63351325A>G | gnomAD |
rs368614050 | p.Tyr554His | missense variant | - | NC_000017.11:g.63351324T>C | ESP,ExAC,TOPMed,gnomAD |
rs372829353 | p.Ile558Val | missense variant | - | NC_000017.11:g.63351336A>G | ESP,ExAC,TOPMed,gnomAD |
rs201947596 | p.Val559Leu | missense variant | - | NC_000017.11:g.63351339G>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs775581769 | p.Ser560Leu | missense variant | - | NC_000017.11:g.63351343C>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Leu562Pro | missense variant | - | NC_000017.11:g.63351349T>C | NCI-TCGA |
rs1263473049 | p.Ser563Asn | missense variant | - | NC_000017.11:g.63351352G>A | gnomAD |
rs768083183 | p.Lys564Glu | missense variant | - | NC_000017.11:g.63351354A>G | ExAC,gnomAD |
rs768083183 | p.Lys564Gln | missense variant | - | NC_000017.11:g.63351354A>C | ExAC,gnomAD |
COSM3520600 | p.Met565Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63351359G>A | NCI-TCGA Cosmic |
rs371685807 | p.Gly567Arg | missense variant | - | NC_000017.11:g.63351363G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs752081450 | p.Ile576Thr | missense variant | - | NC_000017.11:g.63351391T>C | ExAC,gnomAD |
rs766809764 | p.Ile576Leu | missense variant | - | NC_000017.11:g.63351390A>C | ExAC,gnomAD |
rs978474288 | p.Val577Leu | missense variant | - | NC_000017.11:g.63351393G>T | TOPMed,gnomAD |
rs978474288 | p.Val577Leu | missense variant | - | NC_000017.11:g.63351393G>C | TOPMed,gnomAD |
NCI-TCGA novel | p.Arg580Lys | missense variant | - | NC_000017.11:g.63351403G>A | NCI-TCGA |
rs376258048 | p.Thr581Asn | missense variant | - | NC_000017.11:g.63351406C>A | ESP,ExAC,TOPMed,gnomAD |
rs760007485 | p.Thr587Ile | missense variant | - | NC_000017.11:g.63354790C>T | ExAC,gnomAD |
rs752785799 | p.Pro591Leu | missense variant | - | NC_000017.11:g.63354802C>T | ExAC,gnomAD |
rs764173544 | p.Phe592Leu | missense variant | - | NC_000017.11:g.63354806C>G | ExAC,TOPMed,gnomAD |
rs745661784 | p.Phe592Leu | missense variant | - | NC_000017.11:g.63354804T>C | ExAC,TOPMed,gnomAD |
rs754146581 | p.His593Tyr | missense variant | - | NC_000017.11:g.63354807C>T | ExAC,gnomAD |
rs369730989 | p.His593Arg | missense variant | - | NC_000017.11:g.63354808A>G | ESP,ExAC,TOPMed,gnomAD |
rs1376199676 | p.Ile595Val | missense variant | - | NC_000017.11:g.63354813A>G | TOPMed |
NCI-TCGA novel | p.Phe596Val | missense variant | - | NC_000017.11:g.63354816T>G | NCI-TCGA |
rs751532229 | p.Leu597Phe | missense variant | - | NC_000017.11:g.63354821G>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Leu597PhePheSerTerUnk | frameshift | - | NC_000017.11:g.63354813_63354814insT | NCI-TCGA |
COSM4732099 | p.Leu597TrpPheSerTerUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.63354814T>- | NCI-TCGA Cosmic |
rs754942145 | p.Arg599Gln | missense variant | - | NC_000017.11:g.63354826G>A | ExAC,TOPMed,gnomAD |
COSM982528 | p.Arg599Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.63354825C>T | NCI-TCGA Cosmic |
rs1049324972 | p.Glu601Lys | missense variant | - | NC_000017.11:g.63354831G>A | TOPMed,gnomAD |
rs1181153697 | p.Glu602Gly | missense variant | - | NC_000017.11:g.63354835A>G | gnomAD |
COSM4817594 | p.Glu602Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63354836G>C | NCI-TCGA Cosmic |
rs1417474251 | p.Glu602Lys | missense variant | - | NC_000017.11:g.63354834G>A | gnomAD |
rs769364345 | p.Asn603Lys | missense variant | - | NC_000017.11:g.63354839T>A | ExAC,TOPMed,gnomAD |
rs1420750947 | p.Asn603Ser | missense variant | - | NC_000017.11:g.63354838A>G | TOPMed |
rs1426745981 | p.Glu604Lys | missense variant | - | NC_000017.11:g.63354840G>A | gnomAD |
rs748976038 | p.Ile606Val | missense variant | - | NC_000017.11:g.63354846A>G | ExAC,gnomAD |
rs1389203603 | p.Asp607Glu | missense variant | - | NC_000017.11:g.63354851C>G | gnomAD |
rs1462951631 | p.Gln608Lys | missense variant | - | NC_000017.11:g.63354852C>A | gnomAD |
rs904668924 | p.Gln611His | missense variant | - | NC_000017.11:g.63354863G>C | TOPMed,gnomAD |
rs889410804 | p.Gln611Leu | missense variant | - | NC_000017.11:g.63354862A>T | TOPMed |
rs889410804 | p.Gln611Arg | missense variant | - | NC_000017.11:g.63354862A>G | TOPMed |
rs1315099816 | p.Ala612Ser | missense variant | - | NC_000017.11:g.63354864G>T | gnomAD |
rs772405958 | p.Ala612Val | missense variant | - | NC_000017.11:g.63354865C>T | TOPMed |
rs774753696 | p.Tyr613Cys | missense variant | - | NC_000017.11:g.63354868A>G | ExAC |
rs774753696 | p.Tyr613Phe | missense variant | - | NC_000017.11:g.63354868A>T | ExAC |
rs1314125287 | p.Arg617Gln | missense variant | - | NC_000017.11:g.63354880G>A | gnomAD |
rs1243256124 | p.Arg617Trp | missense variant | - | NC_000017.11:g.63354879C>T | gnomAD |
rs1307789486 | p.Ile618Thr | missense variant | - | NC_000017.11:g.63354883T>C | gnomAD |
rs772391568 | p.His619Tyr | missense variant | - | NC_000017.11:g.63354885C>T | ExAC,TOPMed,gnomAD |
rs1040557152 | p.Ser620Asn | missense variant | - | NC_000017.11:g.63354889G>A | TOPMed |
rs776087632 | p.Asn626Ser | missense variant | - | NC_000017.11:g.63354907A>G | ExAC,gnomAD |
rs760632609 | p.Leu630Phe | missense variant | - | NC_000017.11:g.63354918C>T | ExAC,TOPMed,gnomAD |
rs1198128795 | p.Gly632Ser | missense variant | - | NC_000017.11:g.63354924G>A | gnomAD |
rs764311284 | p.Asp635Gly | missense variant | - | NC_000017.11:g.63354934A>G | ExAC,gnomAD |
rs900881419 | p.Asn636Ser | missense variant | - | NC_000017.11:g.63354937A>G | gnomAD |
rs1413342918 | p.Thr637Ser | missense variant | - | NC_000017.11:g.63354940C>G | gnomAD |
rs1181909409 | p.Thr637Ala | missense variant | - | NC_000017.11:g.63354939A>G | TOPMed,gnomAD |
rs754093229 | p.Thr638Ala | missense variant | - | NC_000017.11:g.63354942A>G | ExAC,TOPMed,gnomAD |
rs1290596101 | p.Gly640Ser | missense variant | - | NC_000017.11:g.63354948G>A | TOPMed |
NCI-TCGA novel | p.Gly640AlaPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.63354948G>- | NCI-TCGA |
NCI-TCGA novel | p.Lys641Glu | missense variant | - | NC_000017.11:g.63354951A>G | NCI-TCGA |
rs1172961674 | p.Leu642Pro | missense variant | - | NC_000017.11:g.63354955T>C | gnomAD |
rs1353310697 | p.Ser644Phe | missense variant | - | NC_000017.11:g.63354961C>T | gnomAD |
rs371351174 | p.Lys647Arg | missense variant | - | NC_000017.11:g.63354970A>G | ESP,ExAC,gnomAD |
rs766274909 | p.Thr648Ser | missense variant | - | NC_000017.11:g.63354972A>T | ExAC,TOPMed,gnomAD |
rs766274909 | p.Thr648Ala | missense variant | - | NC_000017.11:g.63354972A>G | ExAC,TOPMed,gnomAD |
rs754811517 | p.Ser653Ala | missense variant | - | NC_000017.11:g.63354987T>G | ExAC,gnomAD |
rs997966810 | p.Tyr654Cys | missense variant | - | NC_000017.11:g.63354991A>G | TOPMed,gnomAD |
COSM982532 | p.Leu655Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63354993C>A | NCI-TCGA Cosmic |
rs1014962425 | p.Leu657Met | missense variant | - | NC_000017.11:g.63354999C>A | TOPMed |
NCI-TCGA novel | p.Leu657SerPheSerTerUnk | frameshift | - | NC_000017.11:g.63354997_63354998insT | NCI-TCGA |
rs777311411 | p.Thr660Ile | missense variant | - | NC_000017.11:g.63355009C>T | ExAC,gnomAD |
rs748924735 | p.Leu663Ile | missense variant | - | NC_000017.11:g.63355017C>A | ExAC,gnomAD |
rs1433118812 | p.Ile664Arg | missense variant | - | NC_000017.11:g.63355021T>G | gnomAD |
rs778542030 | p.Gly667Ser | missense variant | - | NC_000017.11:g.63355029G>A | ExAC,gnomAD |
rs772518691 | p.Tyr668Cys | missense variant | - | NC_000017.11:g.63355033A>G | ExAC,gnomAD |
rs772518691 | p.Tyr668Phe | missense variant | - | NC_000017.11:g.63355033A>T | ExAC,gnomAD |
COSM4930813 | p.Val670Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63355038G>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Ser674Cys | missense variant | - | NC_000017.11:g.63355051C>G | NCI-TCGA |
rs1296754851 | p.Val678Ile | missense variant | - | NC_000017.11:g.63355062G>A | TOPMed |
rs761295874 | p.Val678Ala | missense variant | - | NC_000017.11:g.63355063T>C | ExAC,gnomAD |
rs768846086 | p.Val679Leu | missense variant | - | NC_000017.11:g.63355065G>C | ExAC,gnomAD |
NCI-TCGA novel | p.Val679Ile | missense variant | - | NC_000017.11:g.63355065G>A | NCI-TCGA |
rs776921699 | p.Ser682Leu | missense variant | - | NC_000017.11:g.63355075C>T | ExAC,gnomAD |
COSM4849028 | p.Glu685Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63355083G>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Met693Ile | missense variant | - | NC_000017.11:g.63355109G>T | NCI-TCGA |
NCI-TCGA novel | p.Lys694Ter | stop gained | - | NC_000017.11:g.63355110A>T | NCI-TCGA |
rs1477788468 | p.Phe695Leu | missense variant | - | NC_000017.11:g.63355115C>A | gnomAD |
COSM5747884 | p.Pro696Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63355116C>T | NCI-TCGA Cosmic |
COSM706515 | p.Ser699Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63355126C>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Ser700Phe | missense variant | - | NC_000017.11:g.63355129C>T | NCI-TCGA |
rs1164849683 | p.Ser700Ala | missense variant | - | NC_000017.11:g.63355128T>G | TOPMed |
rs1432072520 | p.Arg703Trp | missense variant | - | NC_000017.11:g.63355137C>T | gnomAD |
rs1335463551 | p.Val704Glu | missense variant | - | NC_000017.11:g.63355141T>A | gnomAD |
rs377236602 | p.Met705Ile | missense variant | - | NC_000017.11:g.63355145G>T | ESP,TOPMed,gnomAD |
rs759208072 | p.Pro706Leu | missense variant | - | NC_000017.11:g.63355147C>T | ExAC,gnomAD |
rs1163706857 | p.Leu707Ile | missense variant | - | NC_000017.11:g.63355149C>A | TOPMed |
rs752552645 | p.Pro717Ala | missense variant | - | NC_000017.11:g.63355179C>G | ExAC,gnomAD |
rs756100541 | p.Leu718Val | missense variant | - | NC_000017.11:g.63355182C>G | ExAC,TOPMed,gnomAD |
rs1285178130 | p.Thr719Ser | missense variant | - | NC_000017.11:g.63355186C>G | TOPMed,gnomAD |
rs753277402 | p.Glu721Asp | missense variant | - | NC_000017.11:g.63355193G>C | ExAC,gnomAD |
NCI-TCGA novel | p.Glu721Gln | missense variant | - | NC_000017.11:g.63355191G>C | NCI-TCGA |
rs756772718 | p.His722Arg | missense variant | - | NC_000017.11:g.63355195A>G | ExAC,TOPMed,gnomAD |
rs1223831328 | p.Ile723Val | missense variant | - | NC_000017.11:g.63355197A>G | TOPMed |
rs1319965956 | p.Ala726Val | missense variant | - | NC_000017.11:g.63355207C>T | TOPMed |
rs1240724155 | p.Asn728Lys | missense variant | - | NC_000017.11:g.63355214T>A | gnomAD |
rs61743014 | p.Asn728Ser | missense variant | - | NC_000017.11:g.63355213A>G | ExAC,TOPMed,gnomAD |
rs370145697 | p.Gly730Val | missense variant | - | NC_000017.11:g.63355219G>T | ESP,ExAC,TOPMed,gnomAD |
rs933921170 | p.Ser731Asn | missense variant | - | NC_000017.11:g.63355222G>A | TOPMed |
rs1218472984 | p.Thr735Lys | missense variant | - | NC_000017.11:g.63355234C>A | TOPMed |
rs780527488 | p.Leu736Val | missense variant | - | NC_000017.11:g.63355236C>G | ExAC,gnomAD |
rs540526600 | p.Trp738Ser | missense variant | - | NC_000017.11:g.63355243G>C | 1000Genomes |
rs1295844451 | p.Asp740Val | missense variant | - | NC_000017.11:g.63355249A>T | TOPMed |
rs747469714 | p.Gln743Arg | missense variant | - | NC_000017.11:g.63355258A>G | ExAC,gnomAD |
rs747469714 | p.Gln743Leu | missense variant | - | NC_000017.11:g.63355258A>T | ExAC,gnomAD |
rs1347559756 | p.Met750Val | missense variant | - | NC_000017.11:g.63355278A>G | TOPMed |
rs748185878 | p.Met750Ile | missense variant | - | NC_000017.11:g.63355280G>T | ExAC,gnomAD |
rs1324650049 | p.Met750Thr | missense variant | - | NC_000017.11:g.63355279T>C | TOPMed |
rs374748633 | p.Phe751Leu | missense variant | - | NC_000017.11:g.63355283C>A | ESP,ExAC,TOPMed,gnomAD |
rs374748633 | p.Phe751Leu | missense variant | - | NC_000017.11:g.63355283C>G | ESP,ExAC,TOPMed,gnomAD |
rs775421108 | p.Arg755His | missense variant | - | NC_000017.11:g.63355294G>A | ExAC,TOPMed,gnomAD |
rs767201600 | p.Arg755Cys | missense variant | - | NC_000017.11:g.63355293C>T | ExAC,TOPMed,gnomAD |
rs775421108 | p.Arg755Leu | missense variant | - | NC_000017.11:g.63355294G>T | ExAC,TOPMed,gnomAD |
rs760467526 | p.Asp757Gly | missense variant | - | NC_000017.11:g.63355300A>G | ExAC,gnomAD |
rs1427752221 | p.Met758Ile | missense variant | - | NC_000017.11:g.63355304G>A | TOPMed |
rs763961124 | p.Thr759Ala | missense variant | - | NC_000017.11:g.63355305A>G | ExAC,gnomAD |
rs1425650144 | p.Thr759Ser | missense variant | - | NC_000017.11:g.63355306C>G | TOPMed |
rs1282488329 | p.Arg760Cys | missense variant | - | NC_000017.11:g.63355308C>T | TOPMed,gnomAD |
rs1353225798 | p.Arg760His | missense variant | - | NC_000017.11:g.63355309G>A | TOPMed,gnomAD |
rs753804707 | p.Phe762Ser | missense variant | - | NC_000017.11:g.63355315T>C | ExAC,gnomAD |
rs1252383302 | p.Val763Leu | missense variant | - | NC_000017.11:g.63355317G>T | TOPMed |
rs1490007629 | p.His764Tyr | missense variant | - | NC_000017.11:g.63355320C>T | TOPMed,gnomAD |
rs1198699390 | p.Pro765Thr | missense variant | - | NC_000017.11:g.63355323C>A | gnomAD |
rs1234920001 | p.Arg768Gln | missense variant | - | NC_000017.11:g.63355333G>A | TOPMed,gnomAD |
COSM982536 | p.Glu769Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63355337A>T | NCI-TCGA Cosmic |
rs764852217 | p.Leu771Phe | missense variant | - | NC_000017.11:g.63355341C>T | ExAC,gnomAD |
rs762313677 | p.Glu776Gly | missense variant | - | NC_000017.11:g.63355357A>G | TOPMed,gnomAD |
rs367715498 | p.Lys779Glu | missense variant | - | NC_000017.11:g.63355365A>G | ESP,ExAC,gnomAD |
rs758139432 | p.Thr780Ile | missense variant | - | NC_000017.11:g.63355369C>T | ExAC,TOPMed,gnomAD |
rs1165266140 | p.Thr780Pro | missense variant | - | NC_000017.11:g.63355368A>C | gnomAD |
NCI-TCGA novel | p.Leu783Ile | missense variant | - | NC_000017.11:g.63355377C>A | NCI-TCGA |
rs761798342 | p.Thr791Met | missense variant | - | NC_000017.11:g.63379729C>T | ExAC,gnomAD |
rs1194313825 | p.Leu793Phe | missense variant | - | NC_000017.11:g.63379734C>T | TOPMed |
rs1455681172 | p.Ala794Ser | missense variant | - | NC_000017.11:g.63379737G>T | TOPMed |
rs762386059 | p.Phe795Val | missense variant | - | NC_000017.11:g.63379740T>G | ExAC,TOPMed,gnomAD |
COSM982538 | p.Ser798Pro | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63379749T>C | NCI-TCGA Cosmic |
rs1461430188 | p.Gln800Arg | missense variant | - | NC_000017.11:g.63379756A>G | gnomAD |
rs766010730 | p.Glu801Ala | missense variant | - | NC_000017.11:g.63379759A>C | ExAC,TOPMed,gnomAD |
rs1240941420 | p.Gly802Glu | missense variant | - | NC_000017.11:g.63379762G>A | gnomAD |
rs1322854387 | p.Arg806Gln | missense variant | - | NC_000017.11:g.63379774G>A | gnomAD |
rs1194483156 | p.Thr809Ala | missense variant | - | NC_000017.11:g.63379782A>G | TOPMed |
COSM1385118 | p.Gly813Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.63379794G>T | NCI-TCGA Cosmic |
COSM1385120 | p.Gly813Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63379795G>T | NCI-TCGA Cosmic |
rs755359691 | p.His815Tyr | missense variant | - | NC_000017.11:g.63379800C>T | ExAC,gnomAD |
rs1374531122 | p.Ile816Asn | missense variant | - | NC_000017.11:g.63379804T>A | gnomAD |
rs1429894558 | p.Ala819Val | missense variant | - | NC_000017.11:g.63379813C>T | gnomAD |
COSM982540 | p.Phe822Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63379822T>G | NCI-TCGA Cosmic |
rs1298570048 | p.Val829Ile | missense variant | - | NC_000017.11:g.63388650G>A | gnomAD |
rs1051009862 | p.Gly830Cys | missense variant | - | NC_000017.11:g.63388653G>T | gnomAD |
rs1051009862 | p.Gly830Arg | missense variant | - | NC_000017.11:g.63388653G>C | gnomAD |
rs368953403 | p.Val831Ile | missense variant | - | NC_000017.11:g.63388656G>A | ESP,ExAC,TOPMed,gnomAD |
rs1215672933 | p.Ser833Thr | missense variant | - | NC_000017.11:g.63388662T>A | gnomAD |
NCI-TCGA novel | p.Leu839Ile | missense variant | - | NC_000017.11:g.63388680C>A | NCI-TCGA |
COSM1385122 | p.Trp840Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63388684G>T | NCI-TCGA Cosmic |
rs186712546 | p.Ser842Phe | missense variant | - | NC_000017.11:g.63388690C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1197110814 | p.Tyr843His | missense variant | - | NC_000017.11:g.63388692T>C | gnomAD |
rs1266586082 | p.Tyr843Cys | missense variant | - | NC_000017.11:g.63388693A>G | gnomAD |
rs756447567 | p.Ser844Thr | missense variant | - | NC_000017.11:g.63388696G>C | ExAC,gnomAD |
rs376827865 | p.Thr845Ala | missense variant | - | NC_000017.11:g.63388698A>G | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Glu846Asp | missense variant | - | NC_000017.11:g.63388703A>T | NCI-TCGA |
rs754333999 | p.Gly847Val | missense variant | - | NC_000017.11:g.63388705G>T | ExAC,TOPMed,gnomAD |
rs754333999 | p.Gly847Asp | missense variant | - | NC_000017.11:g.63388705G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Leu848Ile | missense variant | - | NC_000017.11:g.63388707C>A | NCI-TCGA |
rs1486953581 | p.Ser849Phe | missense variant | - | NC_000017.11:g.63388711C>T | gnomAD |
rs757337752 | p.Ser849Pro | missense variant | - | NC_000017.11:g.63388710T>C | ExAC,gnomAD |
rs1427114150 | p.Met850Val | missense variant | - | NC_000017.11:g.63388713A>G | gnomAD |
rs746084906 | p.Ala851Thr | missense variant | - | NC_000017.11:g.63388716G>A | ExAC,gnomAD |
rs1390622075 | p.Ala851Val | missense variant | - | NC_000017.11:g.63388717C>T | gnomAD |
NCI-TCGA novel | p.Leu852Val | missense variant | - | NC_000017.11:g.63388719C>G | NCI-TCGA |
COSM4068519 | p.Ala853Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63388723C>T | NCI-TCGA Cosmic |
rs1368771075 | p.Ala853Thr | missense variant | - | NC_000017.11:g.63388722G>A | TOPMed |
rs1189333667 | p.Ala853Glu | missense variant | - | NC_000017.11:g.63388723C>A | gnomAD |
rs968360568 | p.Arg856Gln | missense variant | - | NC_000017.11:g.63388732G>A | TOPMed,gnomAD |
NCI-TCGA novel | p.Arg856Ter | stop gained | - | NC_000017.11:g.63388731C>T | NCI-TCGA |
COSM982544 | p.Leu858Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63388737C>A | NCI-TCGA Cosmic |
rs1374227177 | p.Tyr859Cys | missense variant | - | NC_000017.11:g.63388741A>G | gnomAD |
NCI-TCGA novel | p.Tyr859LeuPheSerTerUnk | stop gained | - | NC_000017.11:g.63388740_63388741insTAAATTCAAGTTACTAAATTAC | NCI-TCGA |
COSM277590 | p.Pro861Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63388747C>A | NCI-TCGA Cosmic |
rs1238900314 | p.Ile863Thr | missense variant | - | NC_000017.11:g.63388753T>C | gnomAD |
rs765735295 | p.Arg867Ter | stop gained | - | NC_000017.11:g.63389314C>T | ExAC,gnomAD |
rs1244021783 | p.Arg867Gln | missense variant | - | NC_000017.11:g.63389315G>A | gnomAD |
COSM4068521 | p.Ile870Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63389323A>G | NCI-TCGA Cosmic |
rs1180504890 | p.Ala874Thr | missense variant | - | NC_000017.11:g.63389335G>A | gnomAD |
rs750442027 | p.Ile876Thr | missense variant | - | NC_000017.11:g.63389342T>C | ExAC,gnomAD |
rs1251262612 | p.Tyr878His | missense variant | - | NC_000017.11:g.63389347T>C | TOPMed |
rs780205720 | p.Arg879Gln | missense variant | - | NC_000017.11:g.63389351G>A | ExAC,TOPMed,gnomAD |
rs758492232 | p.Arg879Trp | missense variant | - | NC_000017.11:g.63389350C>T | ExAC,TOPMed,gnomAD |
rs1308796802 | p.Thr880Ile | missense variant | - | NC_000017.11:g.63389354C>T | gnomAD |
rs755919425 | p.Val882Leu | missense variant | - | NC_000017.11:g.63389359G>C | ExAC,gnomAD |
rs915741295 | p.Leu883Ser | missense variant | - | NC_000017.11:g.63389363T>C | TOPMed |
rs777491096 | p.Asn885Ser | missense variant | - | NC_000017.11:g.63389369A>G | ExAC,gnomAD |
rs770927486 | p.Pro887Ser | missense variant | - | NC_000017.11:g.63389374C>T | ExAC,gnomAD |
rs774444805 | p.Ile888Val | missense variant | - | NC_000017.11:g.63389377A>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Leu889Ile | missense variant | - | NC_000017.11:g.63389380C>A | NCI-TCGA |
rs775177337 | p.Cys890Ser | missense variant | - | NC_000017.11:g.63389384G>C | ExAC,gnomAD |
rs760301830 | p.Gly896Arg | missense variant | - | NC_000017.11:g.63389401G>C | ExAC,gnomAD |
rs760301830 | p.Gly896Ser | missense variant | - | NC_000017.11:g.63389401G>A | ExAC,gnomAD |
rs776792236 | p.Thr898Ile | missense variant | - | NC_000017.11:g.63389408C>T | ExAC,gnomAD |
rs764514238 | p.Thr898Pro | missense variant | - | NC_000017.11:g.63389407A>C | ExAC,gnomAD |
rs377389715 | p.Glu899Asp | missense variant | - | NC_000017.11:g.63389412A>T | ESP,ExAC,gnomAD |
rs114552067 | p.Met900Val | missense variant | - | NC_000017.11:g.63389413A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs568898605 | p.Ala902Gly | missense variant | - | NC_000017.11:g.63389420C>G | 1000Genomes |
rs750956093 | p.Leu903Pro | missense variant | - | NC_000017.11:g.63389423T>C | ExAC,gnomAD |
rs1261702349 | p.Leu905Arg | missense variant | - | NC_000017.11:g.63389429T>G | gnomAD |
rs1045592537 | p.Phe907Leu | missense variant | - | NC_000017.11:g.63389436C>G | TOPMed,gnomAD |
rs766490830 | p.Gly908Glu | missense variant | - | NC_000017.11:g.63389438G>A | ExAC,TOPMed,gnomAD |
rs758438804 | p.Gly908Arg | missense variant | - | NC_000017.11:g.63389437G>A | ExAC,TOPMed,gnomAD |
rs751797493 | p.Ala909Pro | missense variant | - | NC_000017.11:g.63389440G>C | ExAC,gnomAD |
rs1370792562 | p.Asn910Ser | missense variant | - | NC_000017.11:g.63389444A>G | TOPMed |
rs781483616 | p.Val911Met | missense variant | - | NC_000017.11:g.63389446G>A | ExAC,TOPMed,gnomAD |
rs781483616 | p.Val911Leu | missense variant | - | NC_000017.11:g.63389446G>T | ExAC,TOPMed,gnomAD |
rs757141249 | p.Ala913Thr | missense variant | - | NC_000017.11:g.63389452G>A | ExAC,gnomAD |
rs778954803 | p.Ala913Val | missense variant | - | NC_000017.11:g.63389453C>T | ExAC,gnomAD |
rs757141249 | p.Ala913Ser | missense variant | - | NC_000017.11:g.63389452G>T | ExAC,gnomAD |
rs745840520 | p.Ser914Ala | missense variant | - | NC_000017.11:g.63389455T>G | ExAC,gnomAD |
rs771694104 | p.Ser914Phe | missense variant | - | NC_000017.11:g.63389456C>T | ExAC,gnomAD |
rs774928576 | p.Glu916Lys | missense variant | - | NC_000017.11:g.63389461G>A | ExAC,gnomAD |
rs746532546 | p.Ser917Gly | missense variant | - | NC_000017.11:g.63389464A>G | ExAC,gnomAD |
COSM982546 | p.Gly918Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63389468G>A | NCI-TCGA Cosmic |
rs1171699651 | p.Gly923Val | missense variant | - | NC_000017.11:g.63389483G>T | TOPMed |
rs1488255497 | p.Tyr924Cys | missense variant | - | NC_000017.11:g.63389486A>G | gnomAD |
rs1248959250 | p.Ala927Thr | missense variant | - | NC_000017.11:g.63389494G>A | gnomAD |
COSM6147664 | p.Ala928Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63389497G>T | NCI-TCGA Cosmic |
rs1408309416 | p.Tyr930His | missense variant | - | NC_000017.11:g.63389503T>C | gnomAD |
COSM3989214 | p.Leu931Met | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63389506C>A | NCI-TCGA Cosmic |
rs1417374551 | p.Ser932Asn | missense variant | - | NC_000017.11:g.63389510G>A | TOPMed |
rs377542271 | p.Ser932Cys | missense variant | - | NC_000017.11:g.63389509A>T | ESP,ExAC,TOPMed,gnomAD |
rs759677685 | p.Ile933Thr | missense variant | - | NC_000017.11:g.63389513T>C | ExAC,TOPMed,gnomAD |
rs1325516043 | p.Val934Ala | missense variant | - | NC_000017.11:g.63389516T>C | gnomAD |
rs1348029811 | p.Val935Glu | missense variant | - | NC_000017.11:g.63389519T>A | gnomAD |
COSM460271 | p.Val935Met | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63389518G>A | NCI-TCGA Cosmic |
COSM4068523 | p.Leu936Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63389521C>G | NCI-TCGA Cosmic |
rs1188866736 | p.Lys939Glu | missense variant | - | NC_000017.11:g.63389530A>G | TOPMed |
rs371161191 | p.Arg941Gln | missense variant | - | NC_000017.11:g.63389537G>A | ESP,ExAC,TOPMed,gnomAD |
rs1434453647 | p.Arg941Trp | missense variant | - | NC_000017.11:g.63389536C>T | TOPMed,gnomAD |
rs752996763 | p.Ala942Thr | missense variant | - | NC_000017.11:g.63389539G>A | ExAC,gnomAD |
rs1242507216 | p.Lys943Glu | missense variant | - | NC_000017.11:g.63389542A>G | gnomAD |
rs1396765568 | p.His946Asn | missense variant | - | NC_000017.11:g.63395749C>A | TOPMed,gnomAD |
rs1396765568 | p.His946Tyr | missense variant | - | NC_000017.11:g.63395749C>T | TOPMed,gnomAD |
NCI-TCGA novel | p.Leu947Val | missense variant | - | NC_000017.11:g.63395752T>G | NCI-TCGA |
rs767677178 | p.Leu947Phe | missense variant | - | NC_000017.11:g.63395754G>T | ExAC,gnomAD |
rs1287996037 | p.Asp948Ala | missense variant | - | NC_000017.11:g.63395756A>C | TOPMed |
rs906902782 | p.Asp948Asn | missense variant | - | NC_000017.11:g.63395755G>A | TOPMed,gnomAD |
rs778414080 | p.Gly951Arg | missense variant | - | NC_000017.11:g.63395764G>A | TOPMed,gnomAD |
rs778414080 | p.Gly951Arg | missense variant | - | NC_000017.11:g.63395764G>C | TOPMed,gnomAD |
rs761043795 | p.Gln952His | missense variant | - | NC_000017.11:g.63395769G>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gln952His | missense variant | - | NC_000017.11:g.63395769G>T | NCI-TCGA |
rs1216292593 | p.Gln952Arg | missense variant | - | NC_000017.11:g.63395768A>G | gnomAD |
rs764415517 | p.Cys953Tyr | missense variant | - | NC_000017.11:g.63395771G>A | ExAC,gnomAD |
COSM437097 | p.Cys953Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63395771G>T | NCI-TCGA Cosmic |
rs1388353199 | p.Val956Leu | missense variant | - | NC_000017.11:g.63395779G>C | TOPMed,gnomAD |
rs1276056750 | p.His957Arg | missense variant | - | NC_000017.11:g.63395783A>G | gnomAD |
rs750182978 | p.His957Tyr | missense variant | - | NC_000017.11:g.63395782C>T | ExAC,TOPMed,gnomAD |
rs1195938676 | p.Ala959Thr | missense variant | - | NC_000017.11:g.63395788G>A | TOPMed |
NCI-TCGA novel | p.Leu960Val | missense variant | - | NC_000017.11:g.63395791C>G | NCI-TCGA |
rs1265295257 | p.Arg961Ter | stop gained | - | NC_000017.11:g.63395794C>T | gnomAD |
rs374131489 | p.Arg961Gln | missense variant | - | NC_000017.11:g.63395795G>A | ESP,ExAC,TOPMed,gnomAD |
rs1191615667 | p.Gly962Ser | missense variant | - | NC_000017.11:g.63395797G>A | gnomAD |
rs1422928791 | p.His963Arg | missense variant | - | NC_000017.11:g.63395801A>G | gnomAD |
rs779813561 | p.Val966Ile | missense variant | - | NC_000017.11:g.63395809G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Val966Phe | missense variant | - | NC_000017.11:g.63395809G>T | NCI-TCGA |
rs751552018 | p.Val967Ile | missense variant | - | NC_000017.11:g.63395812G>A | ExAC,gnomAD |
rs754420162 | p.Lys968Arg | missense variant | - | NC_000017.11:g.63395816A>G | ExAC,gnomAD |
COSM5155349 | p.Gln972Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63395828A>G | NCI-TCGA Cosmic |
rs780807728 | p.Thr976Met | missense variant | - | NC_000017.11:g.63395840C>T | ExAC,TOPMed,gnomAD |
rs1027886300 | p.Met977Ile | missense variant | - | NC_000017.11:g.63395844G>A | TOPMed,gnomAD |
rs755699792 | p.Gly979Ser | missense variant | - | NC_000017.11:g.63395848G>A | ExAC,TOPMed,gnomAD |
rs367676849 | p.Gln980Arg | missense variant | - | NC_000017.11:g.63395852A>G | ESP,ExAC,gnomAD |
rs113065000 | p.Gln980Ter | stop gained | - | NC_000017.11:g.63395851C>T | 1000Genomes |
COSM4068525 | p.Gly983Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63395860G>A | NCI-TCGA Cosmic |
rs749608007 | p.Val984Ile | missense variant | - | NC_000017.11:g.63395863G>A | ExAC,TOPMed,gnomAD |
rs771360193 | p.Val984Glu | missense variant | - | NC_000017.11:g.63395864T>A | ExAC,TOPMed,gnomAD |
rs749608007 | p.Val984Leu | missense variant | - | NC_000017.11:g.63395863G>C | ExAC,TOPMed,gnomAD |
rs1217104853 | p.Lys986Arg | missense variant | - | NC_000017.11:g.63395870A>G | gnomAD |
rs774691299 | p.Ser988Gly | missense variant | - | NC_000017.11:g.63395875A>G | ExAC,gnomAD |
rs746436568 | p.Ala990Thr | missense variant | - | NC_000017.11:g.63395881G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Gln993His | missense variant | - | NC_000017.11:g.63395892G>T | NCI-TCGA |
rs925525321 | p.Ala997Val | missense variant | - | NC_000017.11:g.63395903C>T | gnomAD |
rs1441132640 | p.Ala999Gly | missense variant | - | NC_000017.11:g.63395909C>G | TOPMed,gnomAD |
rs557700809 | p.Thr1004Ile | missense variant | - | NC_000017.11:g.63395924C>T | 1000Genomes |
rs1208404617 | p.Ile1006Val | missense variant | - | NC_000017.11:g.63398821A>G | TOPMed,gnomAD |
rs1319792567 | p.Val1007Ile | missense variant | - | NC_000017.11:g.63398824G>A | TOPMed |
rs1160961847 | p.Ser1008Cys | missense variant | - | NC_000017.11:g.63398828C>G | TOPMed,gnomAD |
rs1160961847 | p.Ser1008Tyr | missense variant | - | NC_000017.11:g.63398828C>A | TOPMed,gnomAD |
NCI-TCGA novel | p.Asp1012His | missense variant | - | NC_000017.11:g.63398839G>C | NCI-TCGA |
rs913769112 | p.Lys1016Glu | missense variant | - | NC_000017.11:g.63398851A>G | TOPMed,gnomAD |
rs1333009579 | p.Asp1017Asn | missense variant | - | NC_000017.11:g.63398854G>A | gnomAD |
NCI-TCGA novel | p.Glu1018Lys | missense variant | - | NC_000017.11:g.63398857G>A | NCI-TCGA |
rs1374165658 | p.Glu1019Ala | missense variant | - | NC_000017.11:g.63398861A>C | gnomAD |
COSM4919588 | p.Arg1023Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.63398872C>T | NCI-TCGA Cosmic |
rs1423425524 | p.Ser1028Cys | missense variant | - | NC_000017.11:g.63398887A>T | TOPMed |
rs776968832 | p.Ser1031Thr | missense variant | - | NC_000017.11:g.63398897G>C | ExAC,gnomAD |
rs776968832 | p.Ser1031Asn | missense variant | - | NC_000017.11:g.63398897G>A | ExAC,gnomAD |
rs762149740 | p.Leu1032Val | missense variant | - | NC_000017.11:g.63398899C>G | ExAC,gnomAD |
rs762149740 | p.Leu1032Phe | missense variant | - | NC_000017.11:g.63398899C>T | ExAC,gnomAD |
COSM4825823 | p.Glu1035Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63398908G>C | NCI-TCGA Cosmic |
rs1177008187 | p.Thr1036Ile | missense variant | - | NC_000017.11:g.63398912C>T | gnomAD |
rs374605275 | p.Ala1042Val | missense variant | - | NC_000017.11:g.63405137C>T | ESP,ExAC,gnomAD |
rs200323393 | p.Gly1043Arg | missense variant | - | NC_000017.11:g.63405139G>A | ESP,ExAC,TOPMed,gnomAD |
rs200323393 | p.Gly1043Ter | stop gained | - | NC_000017.11:g.63405139G>T | ESP,ExAC,TOPMed,gnomAD |
rs190187657 | p.Gly1043Ala | missense variant | - | NC_000017.11:g.63405140G>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Lys1046GlnPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.63405142_63405143insG | NCI-TCGA |
NCI-TCGA novel | p.Cys1050Tyr | missense variant | - | NC_000017.11:g.63405161G>A | NCI-TCGA |
rs1369067776 | p.Arg1051Cys | missense variant | - | NC_000017.11:g.63405163C>T | TOPMed |
rs753330160 | p.Arg1051His | missense variant | - | NC_000017.11:g.63405164G>A | ExAC,TOPMed,gnomAD |
rs761251537 | p.Ala1058Val | missense variant | - | NC_000017.11:g.63405185C>T | ExAC,gnomAD |
rs1399021803 | p.Ala1059Thr | missense variant | - | NC_000017.11:g.63405187G>A | TOPMed |
rs1446885616 | p.Ala1061Thr | missense variant | - | NC_000017.11:g.63405193G>A | gnomAD |
rs1221689321 | p.Pro1063Thr | missense variant | - | NC_000017.11:g.63405199C>A | gnomAD |
rs1025704226 | p.Asn1064Asp | missense variant | - | NC_000017.11:g.63405202A>G | TOPMed |
rs545352608 | p.Arg1065Cys | missense variant | - | NC_000017.11:g.63405205C>T | 1000Genomes,ExAC,gnomAD |
rs750081650 | p.Arg1065His | missense variant | - | NC_000017.11:g.63405206G>A | ExAC,TOPMed,gnomAD |
rs758810518 | p.Arg1066Leu | missense variant | - | NC_000017.11:g.63405209G>T | ExAC,TOPMed,gnomAD |
rs758810518 | p.Arg1066Gln | missense variant | - | NC_000017.11:g.63405209G>A | ExAC,TOPMed,gnomAD |
COSM1324918 | p.Arg1066Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.63405208C>T | NCI-TCGA Cosmic |
rs1156572294 | p.Leu1071Val | missense variant | - | NC_000017.11:g.63405223C>G | gnomAD |
rs769797251 | p.Thr1074Ser | missense variant | - | NC_000017.11:g.63405232A>T | ExAC |
rs771843402 | p.Arg1076Leu | missense variant | - | NC_000017.11:g.63405239G>T | ExAC,TOPMed,gnomAD |
rs771843402 | p.Arg1076His | missense variant | - | NC_000017.11:g.63405239G>A | ExAC,TOPMed,gnomAD |
rs368122235 | p.Arg1076Cys | missense variant | - | NC_000017.11:g.63405238C>T | ESP,ExAC,TOPMed,gnomAD |
rs368122235 | p.Arg1076Gly | missense variant | - | NC_000017.11:g.63405238C>G | ESP,ExAC,TOPMed,gnomAD |
rs1377882035 | p.His1079Tyr | missense variant | - | NC_000017.11:g.63405247C>T | gnomAD |
rs756199846 | p.Leu1085Val | missense variant | - | NC_000017.11:g.63406163C>G | ExAC,gnomAD |
COSM982548 | p.Leu1085Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63406163C>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Leu1086TyrPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.63406164T>- | NCI-TCGA |
rs1263632797 | p.Thr1088Ile | missense variant | - | NC_000017.11:g.63406173C>T | TOPMed |
rs1232176889 | p.His1089Arg | missense variant | - | NC_000017.11:g.63406176A>G | TOPMed,gnomAD |
rs1319565162 | p.Gly1090Glu | missense variant | - | NC_000017.11:g.63406179G>A | gnomAD |
NCI-TCGA novel | p.Ala1091Pro | missense variant | - | NC_000017.11:g.63406181G>C | NCI-TCGA |
rs1196447873 | p.Met1095Thr | missense variant | - | NC_000017.11:g.63406194T>C | gnomAD |
rs1271839894 | p.Ala1096Gly | missense variant | - | NC_000017.11:g.63406197C>G | gnomAD |
NCI-TCGA novel | p.Ala1096Thr | missense variant | - | NC_000017.11:g.63406196G>A | NCI-TCGA |
rs1211931490 | p.Asp1097Glu | missense variant | - | NC_000017.11:g.63406201C>A | gnomAD |
rs757405529 | p.Asp1097Gly | missense variant | - | NC_000017.11:g.63406200A>G | ExAC,gnomAD |
rs779128919 | p.Gln1099His | missense variant | - | NC_000017.11:g.63406207G>T | ExAC,gnomAD |
rs768478015 | p.Arg1101Cys | missense variant | - | NC_000017.11:g.63406211C>T | ExAC,TOPMed,gnomAD |
rs1187322521 | p.Thr1102Ile | missense variant | - | NC_000017.11:g.63406215C>T | gnomAD |
rs1364742226 | p.Pro1103Ala | missense variant | - | NC_000017.11:g.63406217C>G | TOPMed |
NCI-TCGA novel | p.Leu1104Arg | missense variant | - | NC_000017.11:g.63406221T>G | NCI-TCGA |
rs1326784090 | p.Met1105Ile | missense variant | - | NC_000017.11:g.63406225G>C | TOPMed |
rs776606839 | p.Met1105Thr | missense variant | - | NC_000017.11:g.63406224T>C | ExAC,gnomAD |
rs976637040 | p.Glu1110Lys | missense variant | - | NC_000017.11:g.63406238G>A | TOPMed,gnomAD |
rs1396013752 | p.His1112Gln | missense variant | - | NC_000017.11:g.63406246T>A | gnomAD |
rs769339759 | p.Leu1113Val | missense variant | - | NC_000017.11:g.63406247C>G | ExAC,gnomAD |
rs1356647932 | p.Gly1114Arg | missense variant | - | NC_000017.11:g.63406250G>A | gnomAD |
rs762562307 | p.Val1116Leu | missense variant | - | NC_000017.11:g.63406256G>C | ExAC,gnomAD |
rs762562307 | p.Val1116Met | missense variant | - | NC_000017.11:g.63406256G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Asp1117Gly | missense variant | - | NC_000017.11:g.63406260A>G | NCI-TCGA |
rs774182442 | p.Leu1119Val | missense variant | - | NC_000017.11:g.63406265C>G | ExAC,gnomAD |
COSM1385124 | p.Leu1120Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63406268C>T | NCI-TCGA Cosmic |
rs1286771997 | p.Ala1121Val | missense variant | - | NC_000017.11:g.63406272C>T | TOPMed,gnomAD |
rs1316954824 | p.Ala1124Ser | missense variant | - | NC_000017.11:g.63411513G>T | gnomAD |
rs769557502 | p.Ser1125Phe | missense variant | - | NC_000017.11:g.63411517C>T | ExAC,gnomAD |
rs1173226314 | p.Ser1125Thr | missense variant | - | NC_000017.11:g.63411516T>A | TOPMed |
rs773301798 | p.Ile1126Met | missense variant | - | NC_000017.11:g.63411521T>G | ExAC,gnomAD |
rs201991449 | p.Met1129Thr | missense variant | - | NC_000017.11:g.63411529T>C | ESP,ExAC,TOPMed,gnomAD |
rs534793801 | p.Ala1136Pro | missense variant | - | NC_000017.11:g.63411549G>C | 1000Genomes,ExAC,gnomAD |
rs1437686978 | p.Leu1142Ser | missense variant | - | NC_000017.11:g.63411568T>C | TOPMed |
rs1203482098 | p.His1145Arg | missense variant | - | NC_000017.11:g.63411577A>G | gnomAD |
rs77573295 | p.Ser1147Pro | missense variant | - | NC_000017.11:g.63411582T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1230917443 | p.Val1148Ile | missense variant | - | NC_000017.11:g.63411585G>A | gnomAD |
rs377115331 | p.Arg1150His | missense variant | - | NC_000017.11:g.63411592G>A | ESP,ExAC,TOPMed,gnomAD |
rs775650558 | p.Arg1150Cys | missense variant | - | NC_000017.11:g.63411591C>T | ExAC,gnomAD |
rs764467626 | p.Asp1154Tyr | missense variant | - | NC_000017.11:g.63411603G>T | ExAC,gnomAD |
rs531389009 | p.Asp1154Gly | missense variant | - | NC_000017.11:g.63411604A>G | ExAC,TOPMed,gnomAD |
rs1159591545 | p.Asn1155Ile | missense variant | - | NC_000017.11:g.63411607A>T | gnomAD |
rs1253920589 | p.Asn1155Asp | missense variant | - | NC_000017.11:g.63411606A>G | TOPMed |
RCV000678329 | p.Gly1156Val | missense variant | - | NC_000017.11:g.63411610G>T | ClinVar |
rs1354224699 | p.Gly1156Arg | missense variant | - | NC_000017.11:g.63411609G>A | TOPMed |
rs761859549 | p.Ala1157Pro | missense variant | - | NC_000017.11:g.63411612G>C | ExAC,gnomAD |
rs750635698 | p.Ala1158Thr | missense variant | - | NC_000017.11:g.63411615G>A | ExAC,TOPMed,gnomAD |
rs758478943 | p.Ala1158Asp | missense variant | - | NC_000017.11:g.63411616C>A | ExAC,TOPMed,gnomAD |
rs1387995348 | p.Thr1159Lys | missense variant | - | NC_000017.11:g.63411619C>A | gnomAD |
rs780335147 | p.Asp1160Glu | missense variant | - | NC_000017.11:g.63411623C>A | ExAC,gnomAD |
rs1323538032 | p.Asp1160His | missense variant | - | NC_000017.11:g.63411621G>C | gnomAD |
rs895904203 | p.His1161Asp | missense variant | - | NC_000017.11:g.63411624C>G | TOPMed |
rs777825224 | p.Arg1167Pro | missense variant | - | NC_000017.11:g.63411643G>C | ExAC,TOPMed,gnomAD |
rs755972267 | p.Arg1167Cys | missense variant | - | NC_000017.11:g.63411642C>T | ExAC,TOPMed |
rs777825224 | p.Arg1167His | missense variant | - | NC_000017.11:g.63411643G>A | ExAC,TOPMed,gnomAD |
rs1400120288 | p.Pro1169Ala | missense variant | - | NC_000017.11:g.63411648C>G | TOPMed |
rs1312558593 | p.Ala1173Thr | missense variant | - | NC_000017.11:g.63411660G>A | TOPMed |
rs778633795 | p.Ala1174Ser | missense variant | - | NC_000017.11:g.63411663G>T | ExAC |
rs745388587 | p.Ala1174Gly | missense variant | - | NC_000017.11:g.63411664C>G | ExAC,gnomAD |
rs771568324 | p.Tyr1176Cys | missense variant | - | NC_000017.11:g.63411670A>G | ExAC,TOPMed,gnomAD |
rs775232466 | p.Gly1177Ser | missense variant | - | NC_000017.11:g.63411672G>A | ExAC,gnomAD |
rs1179665050 | p.Asp1178Asn | missense variant | - | NC_000017.11:g.63411675G>A | gnomAD |
NCI-TCGA novel | p.Asp1178Tyr | missense variant | - | NC_000017.11:g.63411675G>T | NCI-TCGA |
rs1046870172 | p.Asp1178Val | missense variant | - | NC_000017.11:g.63411676A>T | TOPMed |
NCI-TCGA novel | p.Glu1180Asp | missense variant | - | NC_000017.11:g.63411683G>T | NCI-TCGA |
NCI-TCGA novel | p.Glu1180Lys | missense variant | - | NC_000017.11:g.63411681G>A | NCI-TCGA |
rs1005400347 | p.Val1181Leu | missense variant | - | NC_000017.11:g.63411684G>C | TOPMed,gnomAD |
COSM437099 | p.Val1182Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63411998G>A | NCI-TCGA Cosmic |
rs1270765216 | p.Val1186Ile | missense variant | - | NC_000017.11:g.63412010G>A | gnomAD |
rs766532566 | p.Val1186Ala | missense variant | - | NC_000017.11:g.63412011T>C | ExAC,gnomAD |
rs774426806 | p.Asp1187Gly | missense variant | - | NC_000017.11:g.63412014A>G | ExAC,gnomAD |
rs759873225 | p.Ala1190Val | missense variant | - | NC_000017.11:g.63412023C>T | ExAC,gnomAD |
rs767857326 | p.Met1191Val | missense variant | - | NC_000017.11:g.63412025A>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Met1191Ile | missense variant | - | NC_000017.11:g.63412027G>A | NCI-TCGA |
rs201127113 | p.Ile1192Met | missense variant | - | NC_000017.11:g.63412030C>G | ESP,ExAC,TOPMed,gnomAD |
rs1486855966 | p.Glu1193Lys | missense variant | - | NC_000017.11:g.63412031G>A | gnomAD |
rs1204942102 | p.His1194Leu | missense variant | - | NC_000017.11:g.63412035A>T | gnomAD |
rs1449638267 | p.Val1195Ala | missense variant | - | NC_000017.11:g.63412038T>C | TOPMed |
rs750422428 | p.Val1195Ile | missense variant | - | NC_000017.11:g.63412037G>A | ExAC,TOPMed,gnomAD |
rs756223486 | p.Tyr1197Cys | missense variant | - | NC_000017.11:g.63412044A>G | ExAC,TOPMed,gnomAD |
rs1187720722 | p.Ser1198Thr | missense variant | - | NC_000017.11:g.63412047G>C | TOPMed,gnomAD |
rs1416971626 | p.Ser1198Arg | missense variant | - | NC_000017.11:g.63412048T>G | gnomAD |
COSM6147660 | p.Gly1199Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63412050G>A | NCI-TCGA Cosmic |
rs901125104 | p.Arg1201Cys | missense variant | - | NC_000017.11:g.63412055C>T | - |
rs201488189 | p.Arg1201His | missense variant | - | NC_000017.11:g.63412056G>A | ESP,ExAC,TOPMed,gnomAD |
COSM5073509 | p.Pro1202Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63412058C>T | NCI-TCGA Cosmic |
rs746505172 | p.Asp1204Glu | missense variant | - | NC_000017.11:g.63412066T>G | ExAC,TOPMed,gnomAD |
rs1052193629 | p.Arg1205Gly | missense variant | - | NC_000017.11:g.63412067A>G | gnomAD |
rs780840821 | p.Arg1210Gln | missense variant | - | NC_000017.11:g.63412083G>A | ExAC,TOPMed,gnomAD |
rs1172991031 | p.Arg1210Trp | missense variant | - | NC_000017.11:g.63412082C>T | gnomAD |
rs770181673 | p.Thr1212Asn | missense variant | - | NC_000017.11:g.63412089C>A | ExAC |
rs1290658354 | p.Thr1212Ala | missense variant | - | NC_000017.11:g.63412088A>G | gnomAD |
rs1452415768 | p.Ser1213Thr | missense variant | - | NC_000017.11:g.63412091T>A | TOPMed |
rs749866687 | p.Val1216Leu | missense variant | - | NC_000017.11:g.63412100G>C | ExAC,gnomAD |
rs1010959592 | p.Thr1217Ser | missense variant | - | NC_000017.11:g.63412104C>G | TOPMed,gnomAD |
rs1010959592 | p.Thr1217Ile | missense variant | - | NC_000017.11:g.63412104C>T | TOPMed,gnomAD |
rs1350562153 | p.Leu1218Phe | missense variant | - | NC_000017.11:g.63412106C>T | gnomAD |
rs1350562153 | p.Leu1218Ile | missense variant | - | NC_000017.11:g.63412106C>A | gnomAD |
NCI-TCGA novel | p.Lys1220Asn | missense variant | - | NC_000017.11:g.63412114G>C | NCI-TCGA |
rs184619475 | p.Gly1222Glu | missense variant | - | NC_000017.11:g.63412119G>A | 1000Genomes |
rs770916010 | p.Lys1224Arg | missense variant | - | NC_000017.11:g.63412125A>G | ExAC,TOPMed,gnomAD |
rs1473050584 | p.Ala1228Thr | missense variant | - | NC_000017.11:g.63413548G>A | gnomAD |
rs1474261850 | p.Ala1231Thr | missense variant | - | NC_000017.11:g.63413557G>A | gnomAD |
rs1420460126 | p.Thr1234Ile | missense variant | - | NC_000017.11:g.63413567C>T | gnomAD |
rs761043580 | p.Asp1238Asn | missense variant | - | NC_000017.11:g.63413578G>A | ExAC,TOPMed,gnomAD |
rs768763926 | p.Ile1239Thr | missense variant | - | NC_000017.11:g.63413582T>C | ExAC,gnomAD |
rs1354480250 | p.Ile1239Val | missense variant | - | NC_000017.11:g.63413581A>G | TOPMed,gnomAD |
rs1353072898 | p.Met1240Leu | missense variant | - | NC_000017.11:g.63413584A>C | gnomAD |
rs1232115382 | p.Met1240Thr | missense variant | - | NC_000017.11:g.63413585T>C | gnomAD |
rs773002015 | p.Ile1241Val | missense variant | - | NC_000017.11:g.63413587A>G | ExAC,gnomAD |
rs1340975941 | p.Ile1241Thr | missense variant | - | NC_000017.11:g.63413588T>C | gnomAD |
rs1212598093 | p.Ile1242Phe | missense variant | - | NC_000017.11:g.63413590A>T | gnomAD |
rs766295871 | p.Ser1245Asn | missense variant | - | NC_000017.11:g.63413600G>A | ExAC,gnomAD |
rs751534960 | p.Lys1246Gln | missense variant | - | NC_000017.11:g.63413602A>C | ExAC,gnomAD |
rs759022503 | p.Met1248Val | missense variant | - | NC_000017.11:g.63413608A>G | ExAC,gnomAD |
rs776021083 | p.Met1248Ile | missense variant | - | NC_000017.11:g.63413610G>A | ExAC,gnomAD |
rs1242940560 | p.Asp1252Asn | missense variant | - | NC_000017.11:g.63413620G>A | gnomAD |
rs752345323 | p.Asp1252Val | missense variant | - | NC_000017.11:g.63413621A>T | ExAC,gnomAD |
rs939147095 | p.Gly1258Asp | missense variant | - | NC_000017.11:g.63415532G>A | TOPMed,gnomAD |
rs752149176 | p.Val1260Ile | missense variant | - | NC_000017.11:g.63415537G>A | ExAC,gnomAD |
rs760125888 | p.Lys1261Arg | missense variant | - | NC_000017.11:g.63415541A>G | ExAC,gnomAD |
rs1352984108 | p.Lys1261Asn | missense variant | - | NC_000017.11:g.63415542G>T | gnomAD |
COSM6081827 | p.Glu1262Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63415543G>A | NCI-TCGA Cosmic |
rs753474791 | p.Gln1265Glu | missense variant | - | NC_000017.11:g.63415552C>G | ExAC,gnomAD |
rs757622270 | p.Arg1266Cys | missense variant | - | NC_000017.11:g.63415555C>T | ExAC,TOPMed,gnomAD |
rs897727078 | p.Arg1266His | missense variant | - | NC_000017.11:g.63415556G>A | TOPMed,gnomAD |
NCI-TCGA novel | p.Tyr1267Cys | missense variant | - | NC_000017.11:g.63415559A>G | NCI-TCGA |
rs1251593257 | p.Gln1268Arg | missense variant | - | NC_000017.11:g.63415562A>G | gnomAD |
rs370300150 | p.Tyr1269Cys | missense variant | - | NC_000017.11:g.63415565A>G | ESP,ExAC,gnomAD |
COSM706511 | p.Tyr1269Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.63415566C>A | NCI-TCGA Cosmic |
rs1366031139 | p.Ala1270Thr | missense variant | - | NC_000017.11:g.63415567G>A | gnomAD |
rs780728787 | p.Phe1274Leu | missense variant | - | NC_000017.11:g.63415579T>C | ExAC,gnomAD |
VAR_079853 | p.Gly1280Val | Missense | - | - | UniProt |
rs540743422 | p.Glu1281Asp | missense variant | - | NC_000017.11:g.63415602G>T | 1000Genomes,ExAC,gnomAD |
rs768655244 | p.Asp1282Asn | missense variant | - | NC_000017.11:g.63415603G>A | ExAC,gnomAD |
rs1393534829 | p.Thr1285Ala | missense variant | - | NC_000017.11:g.63415612A>G | gnomAD |
rs370892096 | p.Phe1286Tyr | missense variant | - | NC_000017.11:g.63415616T>A | TOPMed,gnomAD |
rs370892096 | p.Phe1286Ser | missense variant | - | NC_000017.11:g.63415616T>C | TOPMed,gnomAD |
rs372803024 | p.Arg1287Trp | missense variant | - | NC_000017.11:g.63415618C>T | ESP,ExAC,TOPMed,gnomAD |
rs748373533 | p.Arg1287Gln | missense variant | - | NC_000017.11:g.63415619G>A | ExAC,TOPMed,gnomAD |
rs1287729135 | p.Lys1290Asn | missense variant | - | NC_000017.11:g.63415629G>T | gnomAD |
rs981882459 | p.Val1291Met | missense variant | - | NC_000017.11:g.63415630G>A | TOPMed |
COSM263962 | p.Ser1292Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63415634C>A | NCI-TCGA Cosmic |
COSM3520606 | p.Leu1295Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63415642C>T | NCI-TCGA Cosmic |
rs376982885 | p.Asn1296Ser | missense variant | - | NC_000017.11:g.63415646A>G | ESP,ExAC,TOPMed,gnomAD |
rs1392008390 | p.Asn1296Asp | missense variant | - | NC_000017.11:g.63415645A>G | TOPMed |
rs745679564 | p.Ser1298Phe | missense variant | - | NC_000017.11:g.63415652C>T | ExAC,TOPMed,gnomAD |
rs745679564 | p.Ser1298Cys | missense variant | - | NC_000017.11:g.63415652C>G | ExAC,TOPMed,gnomAD |
rs771952102 | p.Arg1299Gln | missense variant | - | NC_000017.11:g.63415655G>A | ExAC,TOPMed,gnomAD |
rs1436521684 | p.Arg1301Cys | missense variant | - | NC_000017.11:g.63415660C>T | TOPMed,gnomAD |
rs1180475181 | p.Arg1301His | missense variant | - | NC_000017.11:g.63415661G>A | TOPMed,gnomAD |
rs1202858275 | p.Arg1302Met | missense variant | - | NC_000017.11:g.63415664G>T | gnomAD |
rs1285698846 | p.Arg1302Ser | missense variant | - | NC_000017.11:g.63415665G>T | gnomAD |
rs760202448 | p.Met1304Val | missense variant | - | NC_000017.11:g.63415669A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Asn1305Lys | missense variant | - | NC_000017.11:g.63415674C>G | NCI-TCGA |
rs1371182996 | p.Gly1308Glu | missense variant | - | NC_000017.11:g.63418314G>A | gnomAD |
rs200373356 | p.Met1309Val | missense variant | - | NC_000017.11:g.63418316A>G | ExAC,TOPMed,gnomAD |
rs1174223914 | p.Ala1310Val | missense variant | - | NC_000017.11:g.63418320C>T | gnomAD |
rs1416729665 | p.Glu1311Lys | missense variant | - | NC_000017.11:g.63418322G>A | gnomAD |
rs746979235 | p.Phe1313Cys | missense variant | - | NC_000017.11:g.63418329T>G | ExAC,gnomAD |
rs1383056376 | p.Ala1317Ser | missense variant | - | NC_000017.11:g.63418340G>T | gnomAD |
rs1297980683 | p.Leu1320Pro | missense variant | - | NC_000017.11:g.63418350T>C | gnomAD |
rs768640765 | p.Lys1321Gln | missense variant | - | NC_000017.11:g.63418352A>C | ExAC,gnomAD |
rs1005228380 | p.Pro1322Leu | missense variant | - | NC_000017.11:g.63418356C>T | TOPMed |
rs1228086655 | p.Pro1322Ser | missense variant | - | NC_000017.11:g.63418355C>T | gnomAD |
rs372098365 | p.Tyr1325Cys | missense variant | - | NC_000017.11:g.63418365A>G | ESP,ExAC,TOPMed,gnomAD |
rs534658690 | p.Tyr1325His | missense variant | - | NC_000017.11:g.63418364T>C | 1000Genomes,ExAC,gnomAD |
rs763384774 | p.Glu1326Asp | missense variant | - | NC_000017.11:g.63418369A>C | ExAC,gnomAD |
rs1187944657 | p.Tyr1329Cys | missense variant | - | NC_000017.11:g.63418377A>G | gnomAD |
COSM982554 | p.Ala1330Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63418380C>T | NCI-TCGA Cosmic |
rs1293608116 | p.Arg1331Ser | missense variant | - | NC_000017.11:g.63418384A>C | TOPMed,gnomAD |
rs1193978319 | p.Arg1333Lys | missense variant | - | NC_000017.11:g.63418389G>A | gnomAD |
rs752099639 | p.Arg1336His | missense variant | - | NC_000017.11:g.63418398G>A | ExAC,TOPMed,gnomAD |
rs1396830120 | p.Arg1336Cys | missense variant | - | NC_000017.11:g.63418397C>T | gnomAD |
rs1172936886 | p.Ser1337Asn | missense variant | - | NC_000017.11:g.63418401G>A | gnomAD |
COSM86501 | p.Arg1339Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63418407G>A | NCI-TCGA Cosmic |
rs1293488634 | p.Gln1340Ter | stop gained | - | NC_000017.11:g.63420000C>T | gnomAD |
rs141384353 | p.Ala1342Ser | missense variant | - | NC_000017.11:g.63420006G>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs141384353 | p.Ala1342Thr | missense variant | - | NC_000017.11:g.63420006G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs542885777 | p.Ala1344Thr | missense variant | - | NC_000017.11:g.63420012G>A | 1000Genomes,TOPMed,gnomAD |
rs932382460 | p.Leu1345Phe | missense variant | - | NC_000017.11:g.63420017A>C | gnomAD |
rs375384579 | p.Glu1346Lys | missense variant | - | NC_000017.11:g.63420018G>A | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Leu1348Met | missense variant | - | NC_000017.11:g.63420024C>A | NCI-TCGA |
rs1467002389 | p.Glu1350Lys | missense variant | - | NC_000017.11:g.63420030G>A | gnomAD |
rs559873644 | p.Ala1351Thr | missense variant | - | NC_000017.11:g.63420033G>A | 1000Genomes,ExAC,gnomAD |
rs747580283 | p.Arg1359Cys | missense variant | - | NC_000017.11:g.63420057C>T | ExAC,TOPMed,gnomAD |
rs369106640 | p.Leu1365Val | missense variant | - | NC_000017.11:g.63420075C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1472290831 | p.Arg1367Lys | missense variant | - | NC_000017.11:g.63420082G>A | gnomAD |
rs1171779676 | p.Val1368Leu | missense variant | - | NC_000017.11:g.63420084G>C | TOPMed,gnomAD |
rs372679973 | p.Glu1369Lys | missense variant | - | NC_000017.11:g.63420087G>A | ESP,ExAC,TOPMed,gnomAD |
rs1420237316 | p.Glu1370Lys | missense variant | - | NC_000017.11:g.63420090G>A | gnomAD |
rs1403973386 | p.Glu1371Val | missense variant | - | NC_000017.11:g.63420094A>T | gnomAD |
rs770714662 | p.Arg1373Lys | missense variant | - | NC_000017.11:g.63420100G>A | ExAC,gnomAD |
rs1307280466 | p.Met1375Ile | missense variant | - | NC_000017.11:g.63420107G>A | TOPMed |
rs995565435 | p.Gln1376Glu | missense variant | - | NC_000017.11:g.63420108C>G | TOPMed,gnomAD |
rs774523963 | p.Pro1378Arg | missense variant | - | NC_000017.11:g.63420115C>G | ExAC,gnomAD |
rs774523963 | p.Pro1378Leu | missense variant | - | NC_000017.11:g.63420115C>T | ExAC,gnomAD |
rs1028422577 | p.Gln1379Pro | missense variant | - | NC_000017.11:g.63420118A>C | TOPMed,gnomAD |
rs1028422577 | p.Gln1379Arg | missense variant | - | NC_000017.11:g.63420118A>G | TOPMed,gnomAD |
rs1227535893 | p.Gln1379His | missense variant | - | NC_000017.11:g.63420119G>T | gnomAD |
rs1273529569 | p.Gln1380Ter | stop gained | - | NC_000017.11:g.63420120C>T | gnomAD |
rs1309026358 | p.Pro1381Thr | missense variant | - | NC_000017.11:g.63420123C>A | TOPMed,gnomAD |
rs1309026358 | p.Pro1381Ala | missense variant | - | NC_000017.11:g.63420123C>G | TOPMed,gnomAD |
rs1202412676 | p.Pro1382Leu | missense variant | - | NC_000017.11:g.63420127C>T | gnomAD |
rs564995228 | p.Pro1383Leu | missense variant | - | NC_000017.11:g.63420130C>T | 1000Genomes,TOPMed,gnomAD |
rs564995228 | p.Pro1383Gln | missense variant | - | NC_000017.11:g.63420130C>A | 1000Genomes,TOPMed,gnomAD |
rs1188684495 | p.Pro1385Leu | missense variant | - | NC_000017.11:g.63420136C>T | gnomAD |
rs1471896917 | p.Pro1387Ser | missense variant | - | NC_000017.11:g.63420141C>T | gnomAD |
rs753291375 | p.Gln1388Leu | missense variant | - | NC_000017.11:g.63420145A>T | ExAC,gnomAD |
rs753291375 | p.Gln1388Arg | missense variant | - | NC_000017.11:g.63420145A>G | ExAC,gnomAD |
rs1420746049 | p.Gln1389His | missense variant | - | NC_000017.11:g.63420149G>T | gnomAD |
rs1411982789 | p.Gln1390Leu | missense variant | - | NC_000017.11:g.63420151A>T | gnomAD |
rs760725231 | p.Leu1391Phe | missense variant | - | NC_000017.11:g.63420155G>C | ExAC,TOPMed,gnomAD |
rs754057352 | p.Pro1392Arg | missense variant | - | NC_000017.11:g.63420157C>G | ExAC,TOPMed,gnomAD |
rs764219146 | p.Pro1392Ser | missense variant | - | NC_000017.11:g.63420156C>T | ExAC,TOPMed,gnomAD |
rs764219146 | p.Pro1392Thr | missense variant | - | NC_000017.11:g.63420156C>A | ExAC,TOPMed,gnomAD |
rs754057352 | p.Pro1392Leu | missense variant | - | NC_000017.11:g.63420157C>T | ExAC,TOPMed,gnomAD |
rs1446908607 | p.Glu1394Ala | missense variant | - | NC_000017.11:g.63420163A>C | gnomAD |
COSM3820175 | p.Glu1394Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63420162G>A | NCI-TCGA Cosmic |
rs751268334 | p.Glu1396Gln | missense variant | - | NC_000017.11:g.63420168G>C | ExAC,gnomAD |
rs1212542665 | p.Pro1397Leu | missense variant | - | NC_000017.11:g.63420172C>T | TOPMed,gnomAD |
rs780968730 | p.Gln1400Lys | missense variant | - | NC_000017.11:g.63420180C>A | ExAC,gnomAD |
rs1211695431 | p.Asp1403Val | missense variant | - | NC_000017.11:g.63420190A>T | gnomAD |
rs1283931778 | p.Asp1403Asn | missense variant | - | NC_000017.11:g.63420189G>A | TOPMed |
rs1282648406 | p.Ile1404Val | missense variant | - | NC_000017.11:g.63420192A>G | gnomAD |
rs1282648406 | p.Ile1404Leu | missense variant | - | NC_000017.11:g.63420192A>C | gnomAD |
rs1223480044 | p.Ile1404Met | missense variant | - | NC_000017.11:g.63420194A>G | TOPMed |
rs748153191 | p.Tyr1405His | missense variant | - | NC_000017.11:g.63420195T>C | ExAC,TOPMed,gnomAD |
rs769422542 | p.Ser1406Tyr | missense variant | - | NC_000017.11:g.63420199C>A | ExAC,gnomAD |
rs550952516 | p.Val1407Ile | missense variant | - | NC_000017.11:g.63420201G>A | 1000Genomes,ExAC,gnomAD |
rs550952516 | p.Val1407Leu | missense variant | - | NC_000017.11:g.63420201G>C | 1000Genomes,ExAC,gnomAD |
rs748823330 | p.Gln1408Arg | missense variant | - | NC_000017.11:g.63420205A>G | ExAC,TOPMed,gnomAD |
rs1031992264 | p.Asp1409Val | missense variant | - | NC_000017.11:g.63420208A>T | TOPMed |
rs563476758 | p.Asp1409Asn | missense variant | - | NC_000017.11:g.63420207G>A | 1000Genomes,ExAC,gnomAD |
rs554718490 | p.Ile1410Met | missense variant | - | NC_000017.11:g.63420212A>G | TOPMed |
rs774084886 | p.Ile1410Val | missense variant | - | NC_000017.11:g.63420210A>G | ExAC,TOPMed,gnomAD |
rs759788253 | p.Glu1412Lys | missense variant | - | NC_000017.11:g.63420216G>A | ExAC,gnomAD |
rs1176061576 | p.Glu1412Asp | missense variant | - | NC_000017.11:g.63420218G>T | gnomAD |
rs772540956 | p.Glu1413Gly | missense variant | - | NC_000017.11:g.63420220A>G | ExAC,gnomAD |
rs1399495646 | p.Glu1413Lys | missense variant | - | NC_000017.11:g.63420219G>A | TOPMed,gnomAD |
rs1295790447 | p.Tyr1415His | missense variant | - | NC_000017.11:g.63420225T>C | TOPMed |
rs1318596647 | p.Leu1416Gln | missense variant | - | NC_000017.11:g.63420229T>A | gnomAD |
rs369743122 | p.Asp1419Gly | missense variant | - | NC_000017.11:g.63420238A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs369743122 | p.Asp1419Ala | missense variant | - | NC_000017.11:g.63420238A>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs761240342 | p.Val1420Phe | missense variant | - | NC_000017.11:g.63420240G>T | ExAC,gnomAD |
rs761240342 | p.Val1420Ile | missense variant | - | NC_000017.11:g.63420240G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Glu1421Lys | missense variant | - | NC_000017.11:g.63420243G>A | NCI-TCGA |
rs761908937 | p.Ser1424Pro | missense variant | - | NC_000017.11:g.63420252T>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ile1425Val | missense variant | - | NC_000017.11:g.63420255A>G | NCI-TCGA |
rs750702865 | p.Ile1425Thr | missense variant | - | NC_000017.11:g.63420256T>C | ExAC,TOPMed,gnomAD |
rs754716210 | p.Gly1426Ala | missense variant | - | NC_000017.11:g.63420259G>C | ExAC,gnomAD |
rs781107754 | p.Gln1428His | missense variant | - | NC_000017.11:g.63420266G>T | ExAC,gnomAD |
rs190686099 | p.Thr1429Ile | missense variant | - | NC_000017.11:g.63420268C>T | 1000Genomes,ExAC,TOPMed |
rs190686099 | p.Thr1429Lys | missense variant | - | NC_000017.11:g.63420268C>A | 1000Genomes,ExAC,TOPMed |
rs1396912850 | p.Ala1431Asp | missense variant | - | NC_000017.11:g.63420274C>A | gnomAD |
rs748768315 | p.Arg1432Gln | missense variant | - | NC_000017.11:g.63420277G>A | ExAC,TOPMed,gnomAD |
rs756059493 | p.Arg1432Trp | missense variant | - | NC_000017.11:g.63420276C>T | ExAC,TOPMed,gnomAD |
rs756059493 | p.Arg1432Gly | missense variant | - | NC_000017.11:g.63420276C>G | ExAC,TOPMed,gnomAD |
rs1196099411 | p.Ser1434Asn | missense variant | - | NC_000017.11:g.63420283G>A | gnomAD |
rs1477419551 | p.Gln1435Arg | missense variant | - | NC_000017.11:g.63420286A>G | gnomAD |
rs1376384903 | p.Gln1435Glu | missense variant | - | NC_000017.11:g.63420285C>G | gnomAD |
rs756832425 | p.Gly1436Arg | missense variant | - | NC_000017.11:g.63420288G>A | ExAC,gnomAD |
rs778412023 | p.Gly1436Glu | missense variant | - | NC_000017.11:g.63420289G>A | ExAC,gnomAD |
rs745596388 | p.Leu1437Ile | missense variant | - | NC_000017.11:g.63420291C>A | ExAC,TOPMed,gnomAD |
rs534775694 | p.Pro1438Leu | missense variant | - | NC_000017.11:g.63420295C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1319460082 | p.Pro1438Ser | missense variant | - | NC_000017.11:g.63420294C>T | gnomAD |
rs534775694 | p.Pro1438Arg | missense variant | - | NC_000017.11:g.63420295C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs777159927 | p.Val1439Gly | missense variant | - | NC_000017.11:g.63420298T>G | ExAC,gnomAD |
rs1016233271 | p.Val1439Leu | missense variant | - | NC_000017.11:g.63420297G>C | TOPMed |
rs1232644172 | p.Gln1441Arg | missense variant | - | NC_000017.11:g.63420304A>G | gnomAD |
rs765416142 | p.Pro1444Arg | missense variant | - | NC_000017.11:g.63420313C>G | ExAC,gnomAD |
rs1299603665 | p.Ser1445Phe | missense variant | - | NC_000017.11:g.63420316C>T | gnomAD |
rs1396809768 | p.Pro1447Ser | missense variant | - | NC_000017.11:g.63420321C>T | TOPMed,gnomAD |
rs763167667 | p.Pro1447Leu | missense variant | - | NC_000017.11:g.63420322C>T | ExAC,gnomAD |
rs756006150 | p.Pro1448Gln | missense variant | - | NC_000017.11:g.63420325C>A | ExAC,gnomAD |
rs756006150 | p.Pro1448Leu | missense variant | - | NC_000017.11:g.63420325C>T | ExAC,gnomAD |
rs756006150 | p.Pro1448Arg | missense variant | - | NC_000017.11:g.63420325C>G | ExAC,gnomAD |
rs756712907 | p.His1449Arg | missense variant | - | NC_000017.11:g.63420328A>G | ExAC,gnomAD |
rs778555688 | p.Arg1450Trp | missense variant | - | NC_000017.11:g.63420330C>T | ExAC,TOPMed,gnomAD |
rs370919725 | p.Arg1450Gln | missense variant | - | NC_000017.11:g.63420331G>A | ESP,ExAC,TOPMed,gnomAD |
rs1183156540 | p.Asp1451Asn | missense variant | - | NC_000017.11:g.63420333G>A | gnomAD |
rs898469016 | p.Ser1452Thr | missense variant | - | NC_000017.11:g.63420336T>A | TOPMed |
rs931307124 | p.Ser1452Ter | stop gained | - | NC_000017.11:g.63420337C>G | TOPMed |
rs758013067 | p.Ala1453Val | missense variant | - | NC_000017.11:g.63420340C>T | ExAC,gnomAD |
rs1365098541 | p.Ala1453Thr | missense variant | - | NC_000017.11:g.63420339G>A | gnomAD |
NCI-TCGA novel | p.Tyr1454Asp | missense variant | - | NC_000017.11:g.63420342T>G | NCI-TCGA |
rs1158019912 | p.Tyr1454Phe | missense variant | - | NC_000017.11:g.63420343A>T | TOPMed,gnomAD |
rs747340136 | p.Ile1455Thr | missense variant | - | NC_000017.11:g.63420346T>C | ExAC |
rs779709993 | p.Ile1455Val | missense variant | - | NC_000017.11:g.63420345A>G | ExAC,TOPMed,gnomAD |
rs370812156 | p.Ser1457Gly | missense variant | - | NC_000017.11:g.63420351A>G | ESP,TOPMed |
NCI-TCGA novel | p.Ser1458Thr | missense variant | - | NC_000017.11:g.63420354T>A | NCI-TCGA |
rs201876209 | p.Leu1460Val | missense variant | - | NC_000017.11:g.63420360C>G | TOPMed |
rs777104988 | p.Gln1464Lys | missense variant | - | NC_000017.11:g.63420372C>A | ExAC,gnomAD |
NCI-TCGA novel | p.Phe1466Cys | missense variant | - | NC_000017.11:g.63420379T>G | NCI-TCGA |
rs748756535 | p.Asp1467Tyr | missense variant | - | NC_000017.11:g.63420381G>T | ExAC |
rs1219693183 | p.Phe1468Leu | missense variant | - | NC_000017.11:g.63420386C>A | TOPMed |
rs374716902 | p.Arg1469Leu | missense variant | - | NC_000017.11:g.63420388G>T | ESP,ExAC,TOPMed,gnomAD |
rs1287988148 | p.Arg1469Trp | missense variant | - | NC_000017.11:g.63420387C>T | TOPMed,gnomAD |
rs374716902 | p.Arg1469Gln | missense variant | - | NC_000017.11:g.63420388G>A | ESP,ExAC,TOPMed,gnomAD |
rs1247445635 | p.Ser1473Phe | missense variant | - | NC_000017.11:g.63420400C>T | gnomAD |
NCI-TCGA novel | p.Ser1473Tyr | missense variant | - | NC_000017.11:g.63420400C>A | NCI-TCGA |
rs1295564361 | p.Gly1475Ala | missense variant | - | NC_000017.11:g.63420406G>C | gnomAD |
rs1200913336 | p.Pro1477Ser | missense variant | - | NC_000017.11:g.63420411C>T | TOPMed |
rs762966526 | p.Pro1477Leu | missense variant | - | NC_000017.11:g.63420412C>T | ExAC,gnomAD |
rs1254559421 | p.Arg1479Thr | missense variant | - | NC_000017.11:g.63420418G>C | gnomAD |
rs764041869 | p.Gln1483Glu | missense variant | - | NC_000017.11:g.63420429C>G | ExAC,gnomAD |
rs1257800660 | p.Ser1484Cys | missense variant | - | NC_000017.11:g.63420433C>G | gnomAD |
rs753826605 | p.Thr1485Pro | missense variant | - | NC_000017.11:g.63420435A>C | ExAC,TOPMed,gnomAD |
rs1438330151 | p.Thr1485Ile | missense variant | - | NC_000017.11:g.63420436C>T | TOPMed |
rs376340189 | p.Pro1487Leu | missense variant | - | NC_000017.11:g.63420442C>T | ESP,ExAC,TOPMed,gnomAD |
rs1184957074 | p.Pro1487Ser | missense variant | - | NC_000017.11:g.63420441C>T | gnomAD |
rs1462275959 | p.Ala1488Val | missense variant | - | NC_000017.11:g.63420445C>T | gnomAD |
rs749905545 | p.Ser1496Leu | missense variant | - | NC_000017.11:g.63420469C>T | ExAC,TOPMed,gnomAD |
rs779654816 | p.His1497Tyr | missense variant | - | NC_000017.11:g.63420471C>T | ExAC,gnomAD |
rs779654816 | p.His1497Asn | missense variant | - | NC_000017.11:g.63420471C>A | ExAC,gnomAD |
rs1356168073 | p.Tyr1498His | missense variant | - | NC_000017.11:g.63420474T>C | gnomAD |
rs1310824455 | p.Arg1499Lys | missense variant | - | NC_000017.11:g.63420478G>A | gnomAD |
rs1352706759 | p.Pro1500Arg | missense variant | - | NC_000017.11:g.63420481C>G | TOPMed |
rs1352706759 | p.Pro1500Leu | missense variant | - | NC_000017.11:g.63420481C>T | TOPMed |
rs1414936781 | p.Pro1503Leu | missense variant | - | NC_000017.11:g.63420490C>T | TOPMed |
rs571360967 | p.Thr1505Ile | missense variant | - | NC_000017.11:g.63420496C>T | 1000Genomes,ExAC,gnomAD |
rs748473534 | p.Ser1506Phe | missense variant | - | NC_000017.11:g.63420499C>T | ExAC,gnomAD |
rs748473534 | p.Ser1506Cys | missense variant | - | NC_000017.11:g.63420499C>G | ExAC,gnomAD |
rs1277428042 | p.Pro1507Ser | missense variant | - | NC_000017.11:g.63420501C>T | gnomAD |
rs902412126 | p.Pro1507Leu | missense variant | - | NC_000017.11:g.63420502C>T | TOPMed |
rs747152020 | p.His1509Tyr | missense variant | - | NC_000017.11:g.63420507C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Gln1510Leu | inframe deletion | - | NC_000017.11:g.63420511_63420528AGGGAGGATCTTACCGTT>- | NCI-TCGA |
NCI-TCGA novel | p.Gly1512Arg | missense variant | - | NC_000017.11:g.63420516G>A | NCI-TCGA |
NCI-TCGA novel | p.Ser1513Phe | missense variant | - | NC_000017.11:g.63420520C>T | NCI-TCGA |
rs368429977 | p.Arg1515His | missense variant | - | NC_000017.11:g.63420526G>A | ESP,ExAC,TOPMed,gnomAD |
rs771184998 | p.Arg1515Gly | missense variant | - | NC_000017.11:g.63420525C>G | ExAC,gnomAD |
rs771184998 | p.Arg1515Cys | missense variant | - | NC_000017.11:g.63420525C>T | ExAC,gnomAD |
rs765187847 | p.Pro1519Leu | missense variant | - | NC_000017.11:g.63420538C>T | ExAC,TOPMed,gnomAD |
rs765187847 | p.Pro1519His | missense variant | - | NC_000017.11:g.63420538C>A | ExAC,TOPMed,gnomAD |
rs765187847 | p.Pro1519Arg | missense variant | - | NC_000017.11:g.63420538C>G | ExAC,TOPMed,gnomAD |
COSM1385128 | p.Pro1519LeuPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.63420533C>- | NCI-TCGA Cosmic |
rs776432017 | p.Pro1519Ala | missense variant | - | NC_000017.11:g.63420537C>G | ExAC,TOPMed,gnomAD |
rs776432017 | p.Pro1519Ser | missense variant | - | NC_000017.11:g.63420537C>T | ExAC,TOPMed,gnomAD |
rs776432017 | p.Pro1519Thr | missense variant | - | NC_000017.11:g.63420537C>A | ExAC,TOPMed,gnomAD |
rs750373872 | p.Val1521Ala | missense variant | - | NC_000017.11:g.63420544T>C | ExAC,gnomAD |
rs1388250674 | p.Val1521Met | missense variant | - | NC_000017.11:g.63420543G>A | gnomAD |
rs1301352485 | p.Gly1525Ser | missense variant | - | NC_000017.11:g.63420555G>A | gnomAD |
rs372102144 | p.Lys1526Arg | missense variant | - | NC_000017.11:g.63420559A>G | ESP,ExAC,TOPMed,gnomAD |
rs780844680 | p.Ser1530Asn | missense variant | - | NC_000017.11:g.63420571G>A | ExAC,TOPMed,gnomAD |
rs780844680 | p.Ser1530Ile | missense variant | - | NC_000017.11:g.63420571G>T | ExAC,TOPMed,gnomAD |
rs753068166 | p.Pro1531Ser | missense variant | - | NC_000017.11:g.63420573C>T | ExAC,TOPMed,gnomAD |
rs749820274 | p.Pro1533Leu | missense variant | - | NC_000017.11:g.63420580C>T | ExAC,TOPMed,gnomAD |
rs749820274 | p.Pro1533His | missense variant | - | NC_000017.11:g.63420580C>A | ExAC,TOPMed,gnomAD |
rs756478162 | p.Pro1533Ala | missense variant | - | NC_000017.11:g.63420579C>G | ExAC,TOPMed,gnomAD |
rs756478162 | p.Pro1533Thr | missense variant | - | NC_000017.11:g.63420579C>A | ExAC,TOPMed,gnomAD |
rs866965328 | p.Pro1535Ser | missense variant | - | NC_000017.11:g.63420585C>T | TOPMed,gnomAD |
rs200623978 | p.Leu1536Val | missense variant | - | NC_000017.11:g.63420588C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs545572702 | p.Arg1537Gln | missense variant | - | NC_000017.11:g.63420592G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs367973706 | p.Arg1537Trp | missense variant | - | NC_000017.11:g.63420591C>T | ESP,ExAC,TOPMed,gnomAD |
rs367973706 | p.Arg1537Gly | missense variant | - | NC_000017.11:g.63420591C>G | ESP,ExAC,TOPMed,gnomAD |
rs1194230794 | p.Pro1540Arg | missense variant | - | NC_000017.11:g.63420601C>G | gnomAD |
rs769530509 | p.Arg1543Gly | missense variant | - | NC_000017.11:g.63420609C>G | ExAC,gnomAD |
rs769530509 | p.Arg1543Trp | missense variant | - | NC_000017.11:g.63420609C>T | ExAC,gnomAD |
rs773193935 | p.Arg1543Gln | missense variant | - | NC_000017.11:g.63420610G>A | ExAC,TOPMed,gnomAD |
rs1377293496 | p.Ala1544Thr | missense variant | - | NC_000017.11:g.63420612G>A | gnomAD |
rs1049785318 | p.Ala1544Val | missense variant | - | NC_000017.11:g.63420613C>T | TOPMed |
rs1460703029 | p.Pro1546Ser | missense variant | - | NC_000017.11:g.63420618C>T | TOPMed,gnomAD |
rs553213380 | p.Pro1547Ser | missense variant | - | NC_000017.11:g.63420621C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs553213380 | p.Pro1547Ala | missense variant | - | NC_000017.11:g.63420621C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs944158607 | p.Ala1548Thr | missense variant | - | NC_000017.11:g.63420624G>A | TOPMed,gnomAD |
rs1041544504 | p.Ser1550Asn | missense variant | - | NC_000017.11:g.63420631G>A | TOPMed |
rs767168489 | p.Ser1550Gly | missense variant | - | NC_000017.11:g.63420630A>G | ExAC,gnomAD |
rs374665587 | p.Met1551Leu | missense variant | - | NC_000017.11:g.63420633A>C | ESP,ExAC,TOPMed,gnomAD |
rs1216969359 | p.Met1551Ile | missense variant | - | NC_000017.11:g.63420635G>C | gnomAD |
rs1286069399 | p.Val1553Ile | missense variant | - | NC_000017.11:g.63420639G>A | TOPMed |
rs756488036 | p.Tyr1554Phe | missense variant | - | NC_000017.11:g.63420643A>T | ExAC,TOPMed,gnomAD |
rs756488036 | p.Tyr1554Cys | missense variant | - | NC_000017.11:g.63420643A>G | ExAC,TOPMed,gnomAD |
rs1316972455 | p.Arg1555Gly | missense variant | - | NC_000017.11:g.63420645A>G | gnomAD |
rs764433252 | p.Ser1556Ala | missense variant | - | NC_000017.11:g.63420648T>G | ExAC,gnomAD |
rs1328260134 | p.Gln1557Arg | missense variant | - | NC_000017.11:g.63420652A>G | gnomAD |
rs754237687 | p.Gln1557Lys | missense variant | - | NC_000017.11:g.63420651C>A | ExAC,gnomAD |
rs1314749864 | p.Gly1559Cys | missense variant | - | NC_000017.11:g.63420657G>T | TOPMed |
NCI-TCGA novel | p.Gly1559ValPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.63420658_63420659GT>- | NCI-TCGA |
NCI-TCGA novel | p.Pro1561Leu | missense variant | - | NC_000017.11:g.63420664C>T | NCI-TCGA |
rs368956259 | p.Val1562Met | missense variant | - | NC_000017.11:g.63420666G>A | ESP,ExAC,TOPMed,gnomAD |
rs373436341 | p.Arg1563Cys | missense variant | - | NC_000017.11:g.63420669C>T | ESP,ExAC,TOPMed,gnomAD |
rs758597698 | p.Arg1563Leu | missense variant | - | NC_000017.11:g.63420670G>T | ExAC,TOPMed,gnomAD |
rs758597698 | p.Arg1563His | missense variant | - | NC_000017.11:g.63420670G>A | ExAC,TOPMed,gnomAD |
rs1441015451 | p.Tyr1564Asp | missense variant | - | NC_000017.11:g.63420672T>G | gnomAD |
rs780306862 | p.Gln1565Arg | missense variant | - | NC_000017.11:g.63420676A>G | ExAC,gnomAD |
rs747257403 | p.Gln1565His | missense variant | - | NC_000017.11:g.63420677G>T | ExAC,gnomAD |
rs1457054156 | p.Thr1568Ala | missense variant | - | NC_000017.11:g.63420684A>G | TOPMed,gnomAD |
rs768924519 | p.Thr1568Ile | missense variant | - | NC_000017.11:g.63420685C>T | ExAC,gnomAD |
rs954884795 | p.Ser1569Ile | missense variant | - | NC_000017.11:g.63420688G>T | TOPMed,gnomAD |
rs199869842 | p.Val1570Ile | missense variant | - | NC_000017.11:g.63420690G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs774310780 | p.Gly1575Val | missense variant | - | NC_000017.11:g.63420706G>T | ExAC,gnomAD |
rs545154452 | p.Gly1575Ser | missense variant | - | NC_000017.11:g.63420705G>A | 1000Genomes,ExAC,gnomAD |
rs1165942036 | p.Ser1579Pro | missense variant | - | NC_000017.11:g.63420717T>C | TOPMed |
rs1011861731 | p.Pro1580Ser | missense variant | - | NC_000017.11:g.63420720C>T | TOPMed |
rs766994994 | p.Leu1581Ser | missense variant | - | NC_000017.11:g.63420724T>C | ExAC,TOPMed,gnomAD |
rs1263344336 | p.Met1584Thr | missense variant | - | NC_000017.11:g.63420733T>C | TOPMed |
rs1478421654 | p.Met1584Val | missense variant | - | NC_000017.11:g.63420732A>G | TOPMed |
rs775205713 | p.Arg1587Gln | missense variant | - | NC_000017.11:g.63420742G>A | ExAC,TOPMed,gnomAD |
rs1233680392 | p.Arg1587Trp | missense variant | - | NC_000017.11:g.63420741C>T | TOPMed,gnomAD |
rs1259723239 | p.Pro1588Ser | missense variant | - | NC_000017.11:g.63420744C>T | TOPMed |
rs1003264700 | p.Pro1588Leu | missense variant | - | NC_000017.11:g.63420745C>T | TOPMed,gnomAD |
rs180736177 | p.Tyr1589His | missense variant | - | NC_000017.11:g.63420747T>C | 1000Genomes,TOPMed,gnomAD |
rs199734433 | p.Val1596Glu | missense variant | - | NC_000017.11:g.63420769T>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Val1596Ala | missense variant | - | NC_000017.11:g.63420769T>C | NCI-TCGA |
rs199734433 | p.Val1596Gly | missense variant | - | NC_000017.11:g.63420769T>G | ExAC,TOPMed,gnomAD |
COSM982560 | p.Gln1600Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63420781A>G | NCI-TCGA Cosmic |
rs1472423207 | p.Gln1601Lys | missense variant | - | NC_000017.11:g.63420783C>A | gnomAD |
COSM982562 | p.Gln1601Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63420784A>G | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Gly1602Arg | missense variant | - | NC_000017.11:g.63420786G>A | NCI-TCGA |
rs751023721 | p.Arg1604Gly | missense variant | - | NC_000017.11:g.63420792A>G | ExAC,gnomAD |
rs758495961 | p.Gln1606Ter | stop gained | - | NC_000017.11:g.63420798C>T | ExAC,gnomAD |
rs972936059 | p.Ala1608Ser | missense variant | - | NC_000017.11:g.63420804G>T | TOPMed,gnomAD |
rs1164732977 | p.Ala1608Val | missense variant | - | NC_000017.11:g.63420805C>T | gnomAD |
rs1305570834 | p.Ala1610Gly | missense variant | - | NC_000017.11:g.63420811C>G | gnomAD |
rs1349336732 | p.Gln1611His | missense variant | - | NC_000017.11:g.63420815G>T | TOPMed,gnomAD |
COSM3820179 | p.Ile1612Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63420817T>C | NCI-TCGA Cosmic |
rs369696442 | p.Ile1612Ser | missense variant | - | NC_000017.11:g.63420817T>G | ESP,ExAC,TOPMed,gnomAD |
rs369696442 | p.Ile1612Asn | missense variant | - | NC_000017.11:g.63420817T>A | ESP,ExAC,TOPMed,gnomAD |
rs781506204 | p.Asn1616Thr | missense variant | - | NC_000017.11:g.63420829A>C | ExAC,TOPMed,gnomAD |
rs770762544 | p.Gln1617Pro | missense variant | - | NC_000017.11:g.63420832A>C | ExAC,gnomAD |
rs920166361 | p.Gln1617His | missense variant | - | NC_000017.11:g.63420833G>C | TOPMed,gnomAD |
rs1344139791 | p.Pro1618Ala | missense variant | - | NC_000017.11:g.63420834C>G | gnomAD |
rs952968706 | p.Ser1619Asn | missense variant | - | NC_000017.11:g.63420838G>A | TOPMed |
COSM4420555 | p.Pro1620Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63420840C>T | NCI-TCGA Cosmic |
rs745873428 | p.Val1622Phe | missense variant | - | NC_000017.11:g.63420846G>T | ExAC,gnomAD |
rs745873428 | p.Val1622Ile | missense variant | - | NC_000017.11:g.63420846G>A | ExAC,gnomAD |
COSM982564 | p.Ser1625Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63420856G>A | NCI-TCGA Cosmic |
rs774809700 | p.Thr1626Ile | missense variant | - | NC_000017.11:g.63420859C>T | ExAC |
rs199702353 | p.Val1627Phe | missense variant | - | NC_000017.11:g.63420861G>T | ESP,ExAC,TOPMed,gnomAD |
rs199702353 | p.Val1627Ile | missense variant | - | NC_000017.11:g.63420861G>A | ESP,ExAC,TOPMed,gnomAD |
COSM982566 | p.Ile1628Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63420865T>C | NCI-TCGA Cosmic |
rs1472028693 | p.Ile1628Val | missense variant | - | NC_000017.11:g.63420864A>G | gnomAD |
rs1260649655 | p.Gly1631Arg | missense variant | - | NC_000017.11:g.63420873G>A | TOPMed |
rs200863591 | p.Ala1632Val | missense variant | - | NC_000017.11:g.63420877C>T | 1000Genomes,ExAC,gnomAD |
rs765761955 | p.Tyr1633Cys | missense variant | - | NC_000017.11:g.63420880A>G | ExAC,gnomAD |
rs750818315 | p.Val1636Ile | missense variant | - | NC_000017.11:g.63420888G>A | ExAC,gnomAD |
rs1191455772 | p.His1638Tyr | missense variant | - | NC_000017.11:g.63420894C>T | TOPMed |
rs377361135 | p.His1638Arg | missense variant | - | NC_000017.11:g.63420895A>G | ESP,ExAC,TOPMed,gnomAD |
rs76448506 | p.Ser1639Ter | stop gained | - | NC_000017.11:g.63420898C>A | - |
rs766931239 | p.Met1640Arg | missense variant | - | NC_000017.11:g.63420901T>G | ExAC,gnomAD |
NCI-TCGA novel | p.Ala1641Ser | missense variant | - | NC_000017.11:g.63420903G>T | NCI-TCGA |
rs369166403 | p.Ser1642Asn | missense variant | - | NC_000017.11:g.63420907G>A | ESP,TOPMed,gnomAD |
rs369166403 | p.Ser1642Ile | missense variant | - | NC_000017.11:g.63420907G>T | ESP,TOPMed,gnomAD |
rs916458760 | p.Lys1643Gln | missense variant | - | NC_000017.11:g.63420909A>C | gnomAD |
rs949345388 | p.Tyr1644Ser | missense variant | - | NC_000017.11:g.63420913A>C | TOPMed |
rs751552501 | p.Gln1645Arg | missense variant | - | NC_000017.11:g.63420916A>G | ExAC,TOPMed,gnomAD |
rs200437129 | p.Gln1645His | missense variant | - | NC_000017.11:g.63420917G>C | 1000Genomes |
rs1259852581 | p.Ser1646Thr | missense variant | - | NC_000017.11:g.63420918T>A | TOPMed |
rs752976774 | p.Gly1649Arg | missense variant | - | NC_000017.11:g.63420927G>A | ExAC,TOPMed,gnomAD |
rs752976774 | p.Gly1649Arg | missense variant | - | NC_000017.11:g.63420927G>C | ExAC,TOPMed,gnomAD |
rs757042329 | p.Asp1650Asn | missense variant | - | NC_000017.11:g.63420930G>A | ExAC,TOPMed,gnomAD |
rs200847109 | p.Ile1651Thr | missense variant | - | NC_000017.11:g.63420934T>C | ESP,ExAC,TOPMed,gnomAD |
rs745692639 | p.Arg1657Trp | missense variant | - | NC_000017.11:g.63420951C>T | ExAC,gnomAD |
rs771860241 | p.Arg1657Gln | missense variant | - | NC_000017.11:g.63420952G>A | ExAC,TOPMed,gnomAD |
rs771860241 | p.Arg1657Pro | missense variant | - | NC_000017.11:g.63420952G>C | ExAC,TOPMed,gnomAD |
rs377391067 | p.Leu1658Val | missense variant | - | NC_000017.11:g.63420954T>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs746472611 | p.Val1659Asp | missense variant | - | NC_000017.11:g.63420958T>A | ExAC,TOPMed,gnomAD |
rs761462464 | p.Ser1663Thr | missense variant | - | NC_000017.11:g.63420969T>A | ExAC,gnomAD |
rs370440994 | p.Ile1664Phe | missense variant | - | NC_000017.11:g.63420972A>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs377743142 | p.Ile1664Thr | missense variant | - | NC_000017.11:g.63420973T>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs370440994 | p.Ile1664Val | missense variant | - | NC_000017.11:g.63420972A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs376064282 | p.Gly1665Arg | missense variant | - | NC_000017.11:g.63420975G>A | ESP,ExAC,TOPMed,gnomAD |
rs773661768 | p.Gly1666Glu | missense variant | - | NC_000017.11:g.63420979G>A | ExAC,gnomAD |
rs201027730 | p.Val1668Leu | missense variant | - | NC_000017.11:g.63420984G>C | ESP,ExAC,TOPMed,gnomAD |
rs201027730 | p.Val1668Ile | missense variant | - | NC_000017.11:g.63420984G>A | ESP,ExAC,TOPMed,gnomAD |
rs759160811 | p.Val1668Ala | missense variant | - | NC_000017.11:g.63420985T>C | gnomAD |
rs201027730 | p.Val1668Leu | missense variant | - | NC_000017.11:g.63420984G>T | ESP,ExAC,TOPMed,gnomAD |
rs1276755136 | p.Gly1669Arg | missense variant | - | NC_000017.11:g.63420987G>A | gnomAD |
COSM473172 | p.Asp1670Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63420990G>A | NCI-TCGA Cosmic |
rs767652053 | p.Arg1672Lys | missense variant | - | NC_000017.11:g.63420997G>A | ExAC,gnomAD |
rs752778741 | p.Pro1673Leu | missense variant | - | NC_000017.11:g.63421000C>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gln1678Lys | missense variant | - | NC_000017.11:g.63421014C>A | NCI-TCGA |
rs750149145 | p.Ala1679Gly | missense variant | - | NC_000017.11:g.63421018C>G | ExAC,TOPMed,gnomAD |
rs750149145 | p.Ala1679Val | missense variant | - | NC_000017.11:g.63421018C>T | ExAC,TOPMed,gnomAD |
rs1207165448 | p.Ala1679Pro | missense variant | - | NC_000017.11:g.63421017G>C | gnomAD |
rs1452758263 | p.Leu1681Val | missense variant | - | NC_000017.11:g.63421023C>G | gnomAD |
rs1256732461 | p.Ser1682Arg | missense variant | - | NC_000017.11:g.63421026A>C | TOPMed |
rs758256144 | p.Ser1682Thr | missense variant | - | NC_000017.11:g.63421027G>C | ExAC,gnomAD |
rs1244521868 | p.Ala1683Val | missense variant | - | NC_000017.11:g.63421030C>T | gnomAD |
rs567268087 | p.Ala1685Thr | missense variant | - | NC_000017.11:g.63421035G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1302894077 | p.Cys1687Phe | missense variant | - | NC_000017.11:g.63421042G>T | TOPMed |
rs368631067 | p.His1689Gln | missense variant | - | NC_000017.11:g.63421049T>A | ESP,ExAC,gnomAD |
COSM3520620 | p.Lys1694Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63421063A>T | NCI-TCGA Cosmic |
rs1455455651 | p.Asp1696Val | missense variant | - | NC_000017.11:g.63421069A>T | gnomAD |
rs780787900 | p.Leu1697Pro | missense variant | - | NC_000017.11:g.63421072T>C | ExAC,gnomAD |
rs769530798 | p.Pro1698Ala | missense variant | - | NC_000017.11:g.63421074C>G | ExAC,TOPMed,gnomAD |
rs769530798 | p.Pro1698Thr | missense variant | - | NC_000017.11:g.63421074C>A | ExAC,TOPMed,gnomAD |
rs773039687 | p.Pro1698Arg | missense variant | - | NC_000017.11:g.63421075C>G | ExAC,gnomAD |
rs749592806 | p.Arg1700Gln | missense variant | - | NC_000017.11:g.63421081G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Ser1703Leu | missense variant | - | NC_000017.11:g.63421090C>T | NCI-TCGA |
rs774717697 | p.Ala1704Val | missense variant | - | NC_000017.11:g.63421093C>T | ExAC,gnomAD |
rs771384486 | p.Ala1704Ser | missense variant | - | NC_000017.11:g.63421092G>T | ExAC,gnomAD |
rs1226789491 | p.Tyr1705His | missense variant | - | NC_000017.11:g.63421095T>C | gnomAD |
COSM562009 | p.Arg1706Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.63421098C>T | NCI-TCGA Cosmic |
rs760022382 | p.Arg1706Gln | missense variant | - | NC_000017.11:g.63421099G>A | ExAC,TOPMed,gnomAD |
rs775502405 | p.Gly1707Cys | missense variant | - | NC_000017.11:g.63421101G>T | ExAC,gnomAD |
NCI-TCGA novel | p.Gly1707Ser | missense variant | - | NC_000017.11:g.63421101G>A | NCI-TCGA |
NCI-TCGA novel | p.Gly1707Asp | missense variant | - | NC_000017.11:g.63421102G>A | NCI-TCGA |
rs760778311 | p.Gly1708Asp | missense variant | - | NC_000017.11:g.63421105G>A | ExAC,gnomAD |
rs527348146 | p.Val1709Met | missense variant | - | NC_000017.11:g.63421107G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Tyr1711Cys | missense variant | - | NC_000017.11:g.63421114A>G | NCI-TCGA |
rs1182194839 | p.Tyr1711His | missense variant | - | NC_000017.11:g.63421113T>C | TOPMed,gnomAD |
rs758120629 | p.Ser1712Gly | missense variant | - | NC_000017.11:g.63421116A>G | ExAC,gnomAD |
rs1180989630 | p.Pro1715Ser | missense variant | - | NC_000017.11:g.63421125C>T | gnomAD |
rs1368886723 | p.Gln1716Arg | missense variant | - | NC_000017.11:g.63421129A>G | gnomAD |
rs766127499 | p.Ile1717Met | missense variant | - | NC_000017.11:g.63421133C>G | ExAC,TOPMed,gnomAD |
COSM1228470 | p.Gly1718Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63421134G>A | NCI-TCGA Cosmic |
rs961824372 | p.Arg1719His | missense variant | - | NC_000017.11:g.63421138G>A | TOPMed,gnomAD |
rs535828619 | p.Arg1719Cys | missense variant | - | NC_000017.11:g.63421137C>T | 1000Genomes,ExAC |
COSM3520622 | p.Gln1721Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.63421143C>T | NCI-TCGA Cosmic |
rs752209041 | p.Tyr1725Cys | missense variant | - | NC_000017.11:g.63421156A>G | ExAC,TOPMed,gnomAD |
rs777277066 | p.His1730Pro | missense variant | - | NC_000017.11:g.63421171A>C | ExAC,TOPMed,gnomAD |
rs777277066 | p.His1730Leu | missense variant | - | NC_000017.11:g.63421171A>T | ExAC,TOPMed,gnomAD |
rs755826725 | p.Lys1732Glu | missense variant | - | NC_000017.11:g.63421176A>G | ExAC,gnomAD |
rs1279663690 | p.Asp1734His | missense variant | - | NC_000017.11:g.63421182G>C | TOPMed |
rs145164118 | p.Arg1737His | missense variant | - | NC_000017.11:g.63421192G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs911472721 | p.Arg1737Cys | missense variant | - | NC_000017.11:g.63421191C>T | TOPMed |
rs145164118 | p.Arg1737Pro | missense variant | - | NC_000017.11:g.63421192G>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs949289102 | p.Ser1738Pro | missense variant | - | NC_000017.11:g.63421194T>C | TOPMed |
rs760725301 | p.Ser1739Ala | missense variant | - | NC_000017.11:g.63421197T>G | ExAC,gnomAD |
rs776573587 | p.Ser1740Gly | missense variant | - | NC_000017.11:g.63421200A>G | ExAC,TOPMed,gnomAD |
rs762033674 | p.Ser1740Thr | missense variant | - | NC_000017.11:g.63421201G>C | ExAC,gnomAD |
rs754859782 | p.Gly1743Val | missense variant | - | NC_000017.11:g.63421210G>T | ExAC,gnomAD |
rs754859782 | p.Gly1743Ala | missense variant | - | NC_000017.11:g.63421210G>C | ExAC,gnomAD |
rs754859782 | p.Gly1743Asp | missense variant | - | NC_000017.11:g.63421210G>A | ExAC,gnomAD |
rs767537932 | p.Ser1744Phe | missense variant | - | NC_000017.11:g.63421213C>T | ExAC,gnomAD |
rs1311730519 | p.Pro1745Ser | missense variant | - | NC_000017.11:g.63421215C>T | TOPMed |
rs752740180 | p.Ser1748Ala | missense variant | - | NC_000017.11:g.63421224T>G | ExAC,gnomAD |
rs756992729 | p.Ser1748Ter | stop gained | - | NC_000017.11:g.63421225C>A | TOPMed,gnomAD |
rs756992729 | p.Ser1748Leu | missense variant | - | NC_000017.11:g.63421225C>T | TOPMed,gnomAD |
NCI-TCGA novel | p.His1749Arg | missense variant | - | NC_000017.11:g.63421228A>G | NCI-TCGA |
rs777271783 | p.Arg1752Gly | missense variant | - | NC_000017.11:g.63421236A>G | ExAC,gnomAD |
rs1297843133 | p.Arg1753Thr | missense variant | - | NC_000017.11:g.63421240G>C | gnomAD |
rs748761784 | p.Ile1755Val | missense variant | - | NC_000017.11:g.63421245A>G | ExAC,gnomAD |
rs756887497 | p.Ser1756Gly | missense variant | - | NC_000017.11:g.63421248A>G | ExAC,gnomAD |
rs1469394377 | p.Val1757Asp | missense variant | - | NC_000017.11:g.63421252T>A | TOPMed |
rs1369020821 | p.Asn1758Ile | missense variant | - | NC_000017.11:g.63421255A>T | TOPMed |
rs746202328 | p.Pro1759Arg | missense variant | - | NC_000017.11:g.63421258C>G | ExAC,TOPMed,gnomAD |
rs746202328 | p.Pro1759His | missense variant | - | NC_000017.11:g.63421258C>A | ExAC,TOPMed,gnomAD |
rs780529896 | p.Asn1760Lys | missense variant | - | NC_000017.11:g.63421262C>G | ExAC,TOPMed,gnomAD |
COSM3520624 | p.Glu1761Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.63421263G>T | NCI-TCGA Cosmic |
rs1256980242 | p.Glu1761Lys | missense variant | - | NC_000017.11:g.63421263G>A | TOPMed |
rs1286665712 | p.Ile1762Met | missense variant | - | NC_000017.11:g.63421268C>G | gnomAD |
rs1300406778 | p.Ile1762Thr | missense variant | - | NC_000017.11:g.63421267T>C | gnomAD |
rs778978586 | p.Pro1764Leu | missense variant | - | NC_000017.11:g.63421273C>T | ExAC,TOPMed,gnomAD |
rs1483992808 | p.His1765Pro | missense variant | - | NC_000017.11:g.63421276A>C | gnomAD |
rs575680050 | p.His1765Tyr | missense variant | - | NC_000017.11:g.63421275C>T | 1000Genomes,ExAC,gnomAD |
rs200671950 | p.Pro1766Leu | missense variant | - | NC_000017.11:g.63421279C>T | ESP,ExAC,TOPMed,gnomAD |
rs767486546 | p.Pro1771Leu | missense variant | - | NC_000017.11:g.63421294C>T | ExAC,TOPMed,gnomAD |
rs1426828513 | p.Leu1772Phe | missense variant | - | NC_000017.11:g.63421298G>T | gnomAD |
rs745771366 | p.Ser1775Phe | missense variant | - | NC_000017.11:g.63421306C>T | TOPMed,gnomAD |
rs745771366 | p.Ser1775Cys | missense variant | - | NC_000017.11:g.63421306C>G | TOPMed,gnomAD |
rs1467826852 | p.Gln1776His | missense variant | - | NC_000017.11:g.63421310A>C | gnomAD |
NCI-TCGA novel | p.Ser1777Arg | missense variant | - | NC_000017.11:g.63421313T>G | NCI-TCGA |
rs755096851 | p.Val1778Glu | missense variant | - | NC_000017.11:g.63421315T>A | ExAC,TOPMed,gnomAD |
rs369786230 | p.Leu1780Phe | missense variant | - | NC_000017.11:g.63421320C>T | ESP,TOPMed,gnomAD |
rs372821172 | p.Arg1781His | missense variant | - | NC_000017.11:g.63421324G>A | ESP,ExAC,TOPMed,gnomAD |
rs1405337100 | p.Arg1781Cys | missense variant | - | NC_000017.11:g.63421323C>T | TOPMed,gnomAD |
RCV000678330 | p.Phe1782Cys | missense variant | - | NC_000017.11:g.63421327T>G | ClinVar |
COSM982572 | p.Phe1782Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63421328C>A | NCI-TCGA Cosmic |
rs1166814116 | p.Pro1784Leu | missense variant | - | NC_000017.11:g.63421333C>T | TOPMed |
COSM437103 | p.Pro1784Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63421332C>T | NCI-TCGA Cosmic |
COSM4068539 | p.Ser1786Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63421340C>G | NCI-TCGA Cosmic |
rs1459875529 | p.Ser1786Asn | missense variant | - | NC_000017.11:g.63421339G>A | TOPMed |
rs1420367914 | p.Ser1788Arg | missense variant | - | NC_000017.11:g.63421346T>A | gnomAD |
rs778608692 | p.Ser1788Gly | missense variant | - | NC_000017.11:g.63421344A>G | ExAC,TOPMed,gnomAD |
rs939023019 | p.Ile1789Asn | missense variant | - | NC_000017.11:g.63421348T>A | TOPMed |
rs1240396587 | p.Ser1790Phe | missense variant | - | NC_000017.11:g.63421351C>T | TOPMed |
rs758761101 | p.Thr1792Pro | missense variant | - | NC_000017.11:g.63421356A>C | ExAC,TOPMed,gnomAD |
rs1262075337 | p.Thr1792Asn | missense variant | - | NC_000017.11:g.63421357C>A | gnomAD |
rs1452388871 | p.Ser1793Pro | missense variant | - | NC_000017.11:g.63421359T>C | TOPMed |
rs780335763 | p.Asn1794Lys | missense variant | - | NC_000017.11:g.63421364C>G | ExAC,gnomAD |
rs747393102 | p.Pro1797Arg | missense variant | - | NC_000017.11:g.63421372C>G | ExAC,TOPMed,gnomAD |
rs747393102 | p.Pro1797Gln | missense variant | - | NC_000017.11:g.63421372C>A | ExAC,TOPMed,gnomAD |
rs747393102 | p.Pro1797Leu | missense variant | - | NC_000017.11:g.63421372C>T | ExAC,TOPMed,gnomAD |
rs1246120117 | p.Pro1797Ser | missense variant | - | NC_000017.11:g.63421371C>T | gnomAD |
NCI-TCGA novel | p.Thr1798Ala | missense variant | - | NC_000017.11:g.63421374A>G | NCI-TCGA |
rs1315330686 | p.Phe1799Leu | missense variant | - | NC_000017.11:g.63421379C>G | TOPMed,gnomAD |
rs554732900 | p.Arg1800Gln | missense variant | - | NC_000017.11:g.63421381G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs369925559 | p.Pro1801Ser | missense variant | - | NC_000017.11:g.63421383C>T | ESP,ExAC,TOPMed,gnomAD |
rs1458109367 | p.Ile1805Met | missense variant | - | NC_000017.11:g.63421397C>G | gnomAD |
NCI-TCGA novel | p.Ile1805SerPheSerTerUnk | frameshift | - | NC_000017.11:g.63421395A>- | NCI-TCGA |
rs1161749012 | p.Gln1806His | missense variant | - | NC_000017.11:g.63421400G>C | gnomAD |
rs903333643 | p.Met1808Ile | missense variant | - | NC_000017.11:g.63421406G>A | gnomAD |
rs760420318 | p.Glu1809Asp | missense variant | - | NC_000017.11:g.63421409G>T | ExAC,gnomAD |
rs574785929 | p.Glu1809Gly | missense variant | - | NC_000017.11:g.63421408A>G | 1000Genomes,ExAC,gnomAD |
rs764063433 | p.Ile1810Phe | missense variant | - | NC_000017.11:g.63421410A>T | ExAC,gnomAD |
rs753770664 | p.Pro1811Thr | missense variant | - | NC_000017.11:g.63421413C>A | ExAC,TOPMed,gnomAD |
rs753770664 | p.Pro1811Ala | missense variant | - | NC_000017.11:g.63421413C>G | ExAC,TOPMed,gnomAD |
rs761377618 | p.Leu1812Pro | missense variant | - | NC_000017.11:g.63421417T>C | ExAC,gnomAD |
rs764724684 | p.Pro1814Ser | missense variant | - | NC_000017.11:g.63421422C>T | ExAC,gnomAD |
rs757992885 | p.Tyr1816Cys | missense variant | - | NC_000017.11:g.63421429A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Glu1817Lys | missense variant | - | NC_000017.11:g.63421431G>A | NCI-TCGA |
rs373701170 | p.Arg1818Lys | missense variant | - | NC_000017.11:g.63421435G>A | ESP,ExAC,gnomAD |
NCI-TCGA novel | p.Ser1819Pro | missense variant | - | NC_000017.11:g.63421437T>C | NCI-TCGA |
rs1489519891 | p.Ser1819Ala | missense variant | - | NC_000017.11:g.63421437T>G | gnomAD |
rs751887014 | p.Cys1820Arg | missense variant | - | NC_000017.11:g.63421440T>C | ExAC,TOPMed,gnomAD |
rs1268456704 | p.Asp1821Asn | missense variant | - | NC_000017.11:g.63421443G>A | gnomAD |
rs1184582533 | p.Glu1822Lys | missense variant | - | NC_000017.11:g.63421446G>A | gnomAD |
rs1406287301 | p.Leu1823Met | missense variant | - | NC_000017.11:g.63421449C>A | gnomAD |
rs748669837 | p.Ser1824Leu | missense variant | - | NC_000017.11:g.63421453C>T | ExAC,gnomAD |
rs1438372391 | p.Val1826Ala | missense variant | - | NC_000017.11:g.63421459T>C | TOPMed |
COSM3520628 | p.Ser1827Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63421461T>A | NCI-TCGA Cosmic |
rs777943676 | p.Pro1828Ser | missense variant | - | NC_000017.11:g.63421464C>T | ExAC,TOPMed,gnomAD |
COSM437105 | p.Thr1829Ala | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63421467A>G | NCI-TCGA Cosmic |
rs1370621479 | p.Gln1830Pro | missense variant | - | NC_000017.11:g.63421471A>C | gnomAD |
rs1370621479 | p.Gln1830Arg | missense variant | - | NC_000017.11:g.63421471A>G | gnomAD |
rs1023719647 | p.Gly1832Val | missense variant | - | NC_000017.11:g.63421477G>T | gnomAD |
rs1023719647 | p.Gly1832Asp | missense variant | - | NC_000017.11:g.63421477G>A | gnomAD |
rs1286037648 | p.Pro1834Thr | missense variant | - | NC_000017.11:g.63421482C>A | gnomAD |
rs1372390913 | p.Ser1835Thr | missense variant | - | NC_000017.11:g.63421486G>C | gnomAD |
rs1372390913 | p.Ser1835Asn | missense variant | - | NC_000017.11:g.63421486G>A | gnomAD |
rs771240133 | p.Thr1838Ile | missense variant | - | NC_000017.11:g.63421495C>T | ExAC,TOPMed,gnomAD |
rs749401189 | p.Thr1838Ala | missense variant | - | NC_000017.11:g.63421494A>G | ExAC,TOPMed,gnomAD |
rs771240133 | p.Thr1838Asn | missense variant | - | NC_000017.11:g.63421495C>A | ExAC,TOPMed,gnomAD |
rs774755385 | p.Arg1839Gln | missense variant | - | NC_000017.11:g.63421498G>A | ExAC,gnomAD |
rs746800474 | p.Ser1840Cys | missense variant | - | NC_000017.11:g.63421501C>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Asp1850His | missense variant | - | NC_000017.11:g.63421530G>C | NCI-TCGA |
rs768395983 | p.Ala1853Val | missense variant | - | NC_000017.11:g.63421540C>T | ExAC,gnomAD |
rs970401610 | p.Arg1854Trp | missense variant | - | NC_000017.11:g.63421542C>T | TOPMed |
NCI-TCGA novel | p.Arg1854Gln | missense variant | - | NC_000017.11:g.63421543G>A | NCI-TCGA |
rs1480517152 | p.Thr1855Ala | missense variant | - | NC_000017.11:g.63421545A>G | gnomAD |
rs776631036 | p.Gln1857His | missense variant | - | NC_000017.11:g.63421553G>T | ExAC,TOPMed,gnomAD |
rs1416403749 | p.Pro1859Leu | missense variant | - | NC_000017.11:g.63421558C>T | TOPMed,gnomAD |
COSM3520632 | p.His1860Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63421560C>T | NCI-TCGA Cosmic |
rs981984324 | p.Leu1861Ile | missense variant | - | NC_000017.11:g.63421563C>A | TOPMed,gnomAD |
rs907823428 | p.Leu1861His | missense variant | - | NC_000017.11:g.63421564T>A | gnomAD |
rs907823428 | p.Leu1861Pro | missense variant | - | NC_000017.11:g.63421564T>C | gnomAD |
rs765178482 | p.Gln1864His | missense variant | - | NC_000017.11:g.63421574G>T | ExAC,gnomAD |
rs1431062855 | p.Gln1864Glu | missense variant | - | NC_000017.11:g.63421572C>G | gnomAD |
rs989488359 | p.Arg1866Gln | missense variant | - | NC_000017.11:g.63421579G>A | TOPMed,gnomAD |
rs770059956 | p.Arg1866Trp | missense variant | - | NC_000017.11:g.63421578C>T | TOPMed,gnomAD |
NCI-TCGA novel | p.Thr1867Ala | missense variant | - | NC_000017.11:g.63421581A>G | NCI-TCGA |
rs377595755 | p.Val1870Leu | missense variant | - | NC_000017.11:g.63421590G>C | ESP,ExAC,TOPMed,gnomAD |
rs377595755 | p.Val1870Met | missense variant | - | NC_000017.11:g.63421590G>A | ESP,ExAC,TOPMed,gnomAD |
rs755364335 | p.Val1873Leu | missense variant | - | NC_000017.11:g.63421599G>C | ExAC,TOPMed,gnomAD |
rs753119278 | p.Thr1875Ile | missense variant | - | NC_000017.11:g.63421606C>T | ExAC,gnomAD |
rs1271150693 | p.Val1876Ile | missense variant | - | NC_000017.11:g.63421608G>A | gnomAD |
rs778455961 | p.Val1876Gly | missense variant | - | NC_000017.11:g.63421609T>G | ExAC,gnomAD |
rs749349700 | p.Thr1880Met | missense variant | - | NC_000017.11:g.63421621C>T | ExAC,TOPMed,gnomAD |
rs1249139588 | p.Asn1884Ser | missense variant | - | NC_000017.11:g.63421633A>G | gnomAD |
rs779267258 | p.Asn1884His | missense variant | - | NC_000017.11:g.63421632A>C | ExAC,gnomAD |
rs746147775 | p.Asn1884Lys | missense variant | - | NC_000017.11:g.63421634C>A | ExAC,gnomAD |
rs1050565017 | p.Glu1889Lys | missense variant | - | NC_000017.11:g.63421647G>A | gnomAD |
rs748002519 | p.Pro1893Leu | missense variant | - | NC_000017.11:g.63421660C>T | ExAC,gnomAD |
rs748002519 | p.Pro1893Arg | missense variant | - | NC_000017.11:g.63421660C>G | ExAC,gnomAD |
rs1397149525 | p.Pro1894Ser | missense variant | - | NC_000017.11:g.63421662C>T | TOPMed |
rs769685607 | p.Pro1894Leu | missense variant | - | NC_000017.11:g.63421663C>T | ExAC,gnomAD |
rs773916129 | p.Ile1897Val | missense variant | - | NC_000017.11:g.63421671A>G | ExAC,gnomAD |
rs1452005342 | p.Ser1898Gly | missense variant | - | NC_000017.11:g.63421674A>G | gnomAD |
rs370984925 | p.Ala1901Thr | missense variant | - | NC_000017.11:g.63421683G>A | ESP,ExAC,gnomAD |
rs754457210 | p.Asn1904Ser | missense variant | - | NC_000017.11:g.63421693A>G | ExAC,gnomAD |
rs1321882934 | p.Asn1904Lys | missense variant | - | NC_000017.11:g.63421694C>A | gnomAD |
rs757412255 | p.Lys1905Glu | missense variant | - | NC_000017.11:g.63421695A>G | ExAC,gnomAD |
rs375544808 | p.Asn1908Ser | missense variant | - | NC_000017.11:g.63421705A>G | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ala1909Thr | missense variant | - | NC_000017.11:g.63421707G>A | NCI-TCGA |
rs1485733982 | p.Gln1910His | missense variant | - | NC_000017.11:g.63421712G>C | TOPMed |
rs750533826 | p.Gln1910Glu | missense variant | - | NC_000017.11:g.63421710C>G | ExAC,gnomAD |
rs758505350 | p.His1913Tyr | missense variant | - | NC_000017.11:g.63421719C>T | ExAC,gnomAD |
rs780359922 | p.Leu1914Phe | missense variant | - | NC_000017.11:g.63421724G>C | ExAC,gnomAD |
rs1192588877 | p.Leu1915Pro | missense variant | - | NC_000017.11:g.63421726T>C | gnomAD |
COSM3520634 | p.Glu1916Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63421728G>A | NCI-TCGA Cosmic |
rs1426698867 | p.Asp1918Asn | missense variant | - | NC_000017.11:g.63421734G>A | TOPMed,gnomAD |
NCI-TCGA novel | p.Asp1918Tyr | missense variant | - | NC_000017.11:g.63421734G>T | NCI-TCGA |
rs747870086 | p.Tyr1919His | missense variant | - | NC_000017.11:g.63421737T>C | ExAC,gnomAD |
COSM982578 | p.Tyr1920Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63421740T>G | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Ser1921Ile | missense variant | - | NC_000017.11:g.63421744G>T | NCI-TCGA |
rs769632418 | p.His1923Arg | missense variant | - | NC_000017.11:g.63421750A>G | ExAC,gnomAD |
rs777680802 | p.His1923Gln | missense variant | - | NC_000017.11:g.63421751T>G | ExAC,gnomAD |
rs1159713021 | p.His1923Tyr | missense variant | - | NC_000017.11:g.63421749C>T | gnomAD |
COSM4068543 | p.Gly1924Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63421753G>A | NCI-TCGA Cosmic |
rs1325961295 | p.Ala1927Gly | missense variant | - | NC_000017.11:g.63421762C>G | gnomAD |
rs1285447111 | p.Gly1929Arg | missense variant | - | NC_000017.11:g.63421767G>A | gnomAD |
rs773684889 | p.Gly1929Val | missense variant | - | NC_000017.11:g.63421768G>T | ExAC,gnomAD |
rs759117220 | p.Arg1931Cys | missense variant | - | NC_000017.11:g.63421773C>T | ExAC,gnomAD |
rs370863314 | p.Arg1931His | missense variant | - | NC_000017.11:g.63421774G>A | ESP,ExAC,TOPMed,gnomAD |
rs370863314 | p.Arg1931Pro | missense variant | - | NC_000017.11:g.63421774G>C | ESP,ExAC,TOPMed,gnomAD |
rs1353264981 | p.Gly1932Ala | missense variant | - | NC_000017.11:g.63421777G>C | gnomAD |
rs1377406981 | p.Gly1932Arg | missense variant | - | NC_000017.11:g.63421776G>A | TOPMed |
rs764622235 | p.Leu1934Pro | missense variant | - | NC_000017.11:g.63421783T>C | ExAC,gnomAD |
NCI-TCGA novel | p.Leu1934Ile | missense variant | - | NC_000017.11:g.63421782C>A | NCI-TCGA |
rs754262922 | p.Glu1936Asp | missense variant | - | NC_000017.11:g.63421790G>T | ExAC,TOPMed |
rs201832911 | p.Arg1937Gln | missense variant | - | NC_000017.11:g.63421792G>A | 1000Genomes,ExAC,gnomAD |
NCI-TCGA novel | p.Val1938Asp | missense variant | - | NC_000017.11:g.63421795T>A | NCI-TCGA |
rs1368922867 | p.Ser1939Asn | missense variant | - | NC_000017.11:g.63421798G>A | gnomAD |
rs765799716 | p.Gln1940Glu | missense variant | - | NC_000017.11:g.63421800C>G | ExAC,gnomAD |
rs1345945576 | p.Ala1941Val | missense variant | - | NC_000017.11:g.63421804C>T | TOPMed |
rs373945647 | p.Ser1942Ala | missense variant | - | NC_000017.11:g.63421806T>G | ESP,ExAC,TOPMed,gnomAD |
COSM3520638 | p.Ser1942Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63421807C>T | NCI-TCGA Cosmic |
rs1189327178 | p.Tyr1944Ser | missense variant | - | NC_000017.11:g.63421813A>C | TOPMed |
rs1413957077 | p.Pro1945Ala | missense variant | - | NC_000017.11:g.63421815C>G | TOPMed,gnomAD |
rs749717844 | p.Asp1946Asn | missense variant | - | NC_000017.11:g.63421818G>A | ExAC,TOPMed,gnomAD |
rs771171549 | p.Val1947Met | missense variant | - | NC_000017.11:g.63421821G>A | ExAC,TOPMed,gnomAD |
rs771171549 | p.Val1947Leu | missense variant | - | NC_000017.11:g.63421821G>C | ExAC,TOPMed,gnomAD |
rs998370777 | p.Lys1948Gln | missense variant | - | NC_000017.11:g.63421824A>C | TOPMed,gnomAD |
rs770815483 | p.Arg1951Gln | missense variant | - | NC_000017.11:g.63421834G>A | ExAC,TOPMed,gnomAD |
rs778950132 | p.Thr1952Ser | missense variant | - | NC_000017.11:g.63421836A>T | ExAC,gnomAD |
rs1237259444 | p.Leu1953Pro | missense variant | - | NC_000017.11:g.63421840T>C | gnomAD |
rs367931101 | p.Ala1956Val | missense variant | - | NC_000017.11:g.63421849C>T | ESP,ExAC,gnomAD |
rs775003949 | p.Gln1957Lys | missense variant | - | NC_000017.11:g.63421851C>A | ExAC,gnomAD |
rs775003949 | p.Gln1957Glu | missense variant | - | NC_000017.11:g.63421851C>G | ExAC,gnomAD |
rs1289017515 | p.Ala1958Thr | missense variant | - | NC_000017.11:g.63421854G>A | gnomAD |
rs1490034568 | p.Ala1958Glu | missense variant | - | NC_000017.11:g.63421855C>A | gnomAD |
rs1253466605 | p.Tyr1959His | missense variant | - | NC_000017.11:g.63421857T>C | gnomAD |
rs1435881746 | p.Gln1960His | missense variant | - | NC_000017.11:g.63421862G>C | gnomAD |
rs768439807 | p.Asn1962Ser | missense variant | - | NC_000017.11:g.63421867A>G | ExAC,gnomAD |
rs777091535 | p.Arg1965Lys | missense variant | - | NC_000017.11:g.63421876G>A | ExAC,gnomAD |
rs1309017242 | p.Leu1967Val | missense variant | - | NC_000017.11:g.63421881C>G | TOPMed,gnomAD |
rs143701650 | p.Arg1969Gln | missense variant | - | NC_000017.11:g.63421888G>A | 1000Genomes,ExAC,gnomAD |
rs1161576286 | p.Arg1969Ter | stop gained | - | NC_000017.11:g.63421887C>T | gnomAD |
NCI-TCGA novel | p.Ser1971Phe | missense variant | - | NC_000017.11:g.63421894C>T | NCI-TCGA |
rs1308876722 | p.Arg1972Gln | missense variant | - | NC_000017.11:g.63421897G>A | gnomAD |
rs765636470 | p.Arg1972Gly | missense variant | - | NC_000017.11:g.63421896C>G | ExAC,TOPMed,gnomAD |
rs989477132 | p.Gln1973Lys | missense variant | - | NC_000017.11:g.63421899C>A | TOPMed |
rs1198931893 | p.Ser1977Pro | missense variant | - | NC_000017.11:g.63421911T>C | gnomAD |
COSM3520640 | p.Ser1977Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63421912C>T | NCI-TCGA Cosmic |
rs867097287 | p.Ile1979Val | missense variant | - | NC_000017.11:g.63421917A>G | TOPMed,gnomAD |
COSM3795922 | p.Ile1979Met | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.63421919C>G | NCI-TCGA Cosmic |
rs1248851797 | p.Lys1982Glu | missense variant | - | NC_000017.11:g.63421926A>G | gnomAD |
rs1313506114 | p.Arg1983Lys | missense variant | - | NC_000017.11:g.63421930G>A | gnomAD |
rs1345026269 | p.Pro1984Leu | missense variant | - | NC_000017.11:g.63421933C>T | TOPMed |
rs1194900179 | p.Phe1985Ser | missense variant | - | NC_000017.11:g.63421936T>C | gnomAD |
rs755143983 | p.Val1986Met | missense variant | - | NC_000017.11:g.63421938G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Asn1989MetPheSerTerUnkUnkUnk | frameshift | - | NC_000017.11:g.63421947_63421948insTGATCCCC | NCI-TCGA |
rs767758030 | p.Asn1989Asp | missense variant | - | NC_000017.11:g.63421947A>G | ExAC,TOPMed |
Disease ID | Disease Name | Disease Type | Source |
---|---|---|---|
C0006142 | Malignant neoplasm of breast | disease | BEFREE |
C0021704 | Intelligence | phenotype | GWASCAT |
C0027404 | Narcolepsy | disease | GWASDB |
C0678222 | Breast Carcinoma | disease | BEFREE |
C1535926 | Neurodevelopmental Disorders | group | CTD_human |
C3714756 | Intellectual Disability | group | GENOMICS_ENGLAND |
GO ID | GO Term | Evidence |
---|
GO ID | GO Term | Evidence |
---|---|---|
GO:0001701 | in utero embryonic development | IEA |
GO:0060998 | regulation of dendritic spine development | ISS |
GO:0061001 | regulation of dendritic spine morphogenesis | ISS |
GO:0099519 | dense core granule cytoskeletal transport | ISS |
GO ID | GO Term | Evidence |
---|---|---|
GO:0030054 | cell junction | IEA |
GO:0030424 | axon | IEA |
GO:0043197 | dendritic spine | IDA |
Reactome ID | Reactome Term | Evidence |
---|
ID | Drug Name | Action | PubMed |
---|---|---|---|
D015655 | 1-Methyl-4-phenylpyridinium | 1-Methyl-4-phenylpyridinium results in increased expression of TANC2 mRNA | 28801915 |
C051246 | 1-methylanthracene | [1-methylanthracene co-treated with fluoranthene] results in increased expression of TANC2 mRNA | 28329830 |
C511295 | 2,2',4,4'-tetrabromodiphenyl ether | 2,2',4,4'-tetrabromodiphenyl ether analog results in increased expression of TANC2 mRNA | 19095052 |
C029497 | 2,3-bis(3'-hydroxybenzyl)butyrolactone | [Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in decreased expression of TANC2 mRNA | 19167446 |
C459179 | 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | [NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TANC2 mRNA | 27188386 |
C459179 | 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | [NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TANC2 mRNA | 27188386 |
C459179 | 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | [NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TANC2 mRNA | 27188386 |
D015123 | 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of TANC2 mRNA | 19150397 |
C496492 | abrine | abrine results in increased expression of TANC2 mRNA | 31054353 |
D000082 | Acetaminophen | Acetaminophen results in increased expression of TANC2 mRNA | 29067470 |
D016604 | Aflatoxin B1 | Aflatoxin B1 affects the expression of TANC2 protein | 20106945 |
C029753 | aflatoxin B2 | aflatoxin B2 results in decreased methylation of TANC2 intron | 30157460 |
C029753 | aflatoxin B2 | aflatoxin B2 results in increased methylation of TANC2 intron | 30157460 |
D000517 | alpha-Chlorohydrin | alpha-Chlorohydrin results in increased expression of TANC2 mRNA | 28522335 |
D000661 | Amphetamine | Amphetamine results in decreased expression of TANC2 mRNA | 30779732 |
D001151 | Arsenic | Arsenic affects the methylation of TANC2 gene | 25304211 |
D000077237 | Arsenic Trioxide | Arsenic Trioxide results in increased expression of TANC2 mRNA | 20458559 |
D001280 | Atrazine | Atrazine results in decreased expression of TANC2 mRNA | 25929836 |
D001564 | Benzo(a)pyrene | Benzo(a)pyrene affects the expression of TANC2 mRNA | 21714911 |
D001564 | Benzo(a)pyrene | Benzo(a)pyrene affects the methylation of TANC2 intron | 30157460 |
D001564 | Benzo(a)pyrene | Benzo(a)pyrene results in decreased expression of TANC2 mRNA | 19770486 |
C026487 | benzo(e)pyrene | benzo(e)pyrene results in increased methylation of TANC2 intron | 30157460 |
C006780 | bisphenol A | bisphenol A affects the expression of TANC2 mRNA | 25181051 |
C006780 | bisphenol A | [bisphenol A co-treated with Estradiol] results in decreased expression of TANC2 mRNA | 26496021 |
C006780 | bisphenol A | bisphenol A results in increased expression of TANC2 mRNA | 29097150; 30816183; |
D002945 | Cisplatin | [Cisplatin co-treated with jinfukang] results in decreased expression of TANC2 mRNA | 27392435 |
D002945 | Cisplatin | Cisplatin results in decreased expression of TANC2 mRNA | 19561079; 27392435; |
D003375 | Coumestrol | [Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in decreased expression of TANC2 mRNA | 19167446 |
D016572 | Cyclosporine | Cyclosporine results in increased expression of TANC2 mRNA | 20106945 |
D004051 | Diethylhexyl Phthalate | Diethylhexyl Phthalate results in increased expression of TANC2 mRNA | 31163220 |
C516138 | dorsomorphin | [NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TANC2 mRNA | 27188386 |
C516138 | dorsomorphin | [NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TANC2 mRNA | 27188386 |
C516138 | dorsomorphin | [NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TANC2 mRNA | 27188386 |
C045651 | epigallocatechin gallate | epigallocatechin gallate results in increased expression of TANC2 mRNA | 22079256 |
C045651 | epigallocatechin gallate | [potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of TANC2 mRNA | 22079256 |
D004958 | Estradiol | [Estradiol co-treated with TGFB1 protein] results in increased expression of TANC2 mRNA | 30165855 |
D004958 | Estradiol | Estradiol results in increased expression of TANC2 mRNA | 23019147 |
D004958 | Estradiol | [bisphenol A co-treated with Estradiol] results in decreased expression of TANC2 mRNA | 26496021 |
D000431 | Ethanol | Ethanol affects the splicing of TANC2 mRNA | 30319688 |
D004997 | Ethinyl Estradiol | Ethinyl Estradiol results in increased expression of TANC2 mRNA | 29097150 |
D017313 | Fenretinide | Fenretinide results in increased expression of TANC2 mRNA | 28973697 |
C007738 | fluoranthene | [1-methylanthracene co-treated with fluoranthene] results in increased expression of TANC2 mRNA | 28329830 |
D005742 | Gasoline | [Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of TANC2 mRNA | 29432896 |
C544151 | jinfukang | [Cisplatin co-treated with jinfukang] results in decreased expression of TANC2 mRNA | 27392435 |
D000077339 | Leflunomide | Leflunomide results in increased expression of TANC2 mRNA | 28988120 |
D008070 | Lipopolysaccharides | Lipopolysaccharides results in decreased expression of TANC2 mRNA | 22235868 |
D008687 | Metformin | Metformin results in decreased expression of TANC2 mRNA | 31324951 |
D008701 | Methapyrilene | Methapyrilene results in increased methylation of TANC2 intron | 30157460 |
C004925 | methylmercuric chloride | methylmercuric chloride results in increased expression of TANC2 mRNA | 23103053 |
C004925 | methylmercuric chloride | methylmercuric chloride results in increased expression of TANC2 mRNA | 23179753; 28001369; |
D052638 | Particulate Matter | [Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of TANC2 mRNA | 29432896 |
C086401 | pentabromodiphenyl ether | pentabromodiphenyl ether analog results in increased expression of TANC2 mRNA | 19095052 |
D010662 | Phenylmercuric Acetate | [NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TANC2 mRNA | 27188386 |
D010662 | Phenylmercuric Acetate | Phenylmercuric Acetate results in increased expression of TANC2 mRNA | 26272509 |
C006253 | pirinixic acid | [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of TANC2 mRNA | 19710929 |
D011084 | Polycyclic Aromatic Hydrocarbons | [Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of TANC2 mRNA | 29432896 |
C027373 | potassium chromate(VI) | [potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of TANC2 mRNA | 22079256 |
C027373 | potassium chromate(VI) | potassium chromate(VI) results in decreased expression of TANC2 mRNA | 22079256 |
D011441 | Propylthiouracil | Propylthiouracil results in increased expression of TANC2 mRNA | 24780913 |
D012822 | Silicon Dioxide | Silicon Dioxide results in decreased expression of TANC2 mRNA | 25351596 |
D012834 | Silver | Silver results in decreased expression of TANC2 mRNA | 27131904 |
D013749 | Tetrachlorodibenzodioxin | Tetrachlorodibenzodioxin results in decreased expression of TANC2 mRNA | 19770486 |
D019284 | Thapsigargin | Thapsigargin results in increased expression of TANC2 protein | 24648495 |
D013849 | Thimerosal | Thimerosal results in decreased expression of TANC2 mRNA | 27188386 |
C009495 | titanium dioxide | titanium dioxide results in decreased expression of TANC2 mRNA | 23557971 |
D014028 | Tobacco Smoke Pollution | Tobacco Smoke Pollution results in decreased expression of TANC2 mRNA | 28065790 |
C012589 | trichostatin A | [NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TANC2 mRNA | 27188386 |
C012589 | trichostatin A | trichostatin A results in increased expression of TANC2 mRNA | 24935251; 26272509; |
C016805 | tris(1,3-dichloro-2-propyl)phosphate | tris(1,3-dichloro-2-propyl)phosphate results in increased expression of TANC2 mRNA | 26179874 |
D014520 | Urethane | Urethane results in increased expression of TANC2 mRNA | 28818685 |
D014635 | Valproic Acid | [NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TANC2 mRNA | 27188386 |
D014635 | Valproic Acid | Valproic Acid results in decreased expression of TANC2 mRNA | 23527032 |
D014635 | Valproic Acid | Valproic Acid results in increased expression of TANC2 mRNA | 24383497; 24935251; 26272509; |
D014635 | Valproic Acid | Valproic Acid affects the splicing of TANC2 mRNA | 29427782 |
D014635 | Valproic Acid | Valproic Acid results in decreased expression of TANC2 mRNA | 29427782 |
D014638 | Vanadates | Vanadates results in increased expression of TANC2 mRNA | 22714537 |
D000077337 | Vorinostat | Vorinostat results in decreased expression of TANC2 mRNA | 27188386 |