CleftGeneDB-Search

Gene: JARID2

Basic information

Tag	Content
Uniprot ID	Q92833; A8K9Z6; B7Z5S5; B7Z8L0; Q5U5L5; Q86X63;
Entrez ID	3720
Genbank protein ID	AAC50822.1; BAH13996.1; EAW55357.1; BAH13011.1; BAF85550.1; AAH46246.1; AAH46184.1;
Genbank nucleotide ID	NM_001267040.1; XM_017010835.1; XM_005249089.3; XM_017010834.1; NM_004973.3;
Ensembl protein ID	ENSP00000380478; ENSP00000341280;
Ensembl nucleotide ID	ENSG00000008083
Gene name	Protein Jumonji
Gene symbol	JARID2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CPO,CL/P
Developmental stage
Data sources	Manually collected
Reference	20506229; 25155265;
Functional description	Regulator of histone methyltransferase complexes that plays an essential role in embryonic development, including heart and liver development, neural tube fusion process and hematopoiesis. Acts by modulating histone methyltransferase activity and promoting the recruitment of histone methyltransferase complexes to their target genes. Binds DNA and mediates the recruitment of the PRC2 complex to target genes in embryonic stem cells. Does not have histone demethylase activity but regulates activity of various histone methyltransferase complexes. In embryonic stem cells, it associates with the PRC2 complex and inhibits trimethylation of 'Lys-27' of histone H3 (H3K27me3) by the PRC2 complex, thereby playing a key role in differentiation of embryonic stem cells and normal development. In cardiac cells, it is required to repress expression of cyclin-D1 (CCND1) by activating methylation of 'Lys-9' of histone H3 (H3K9me) by the GLP1/EHMT1 and G9a/EHMT2 histone methyltransferases. Also acts as a transcriptional repressor of ANF via its interaction with GATA4 and NKX2-5. Participates in the negative regulation of cell proliferation signaling.
Sequence	MSKERPKRNI IQKKYDDSDG IPWSEERVVR KVLYLSLKEF KNSQKRQHAE GIAGSLKTVN 60 GLLGNDQSKG LGPASEQSEN EKDDASQVSS TSNDVSSSDF EEGPSRKRPR LQAQRKFAQS 120 QPNSPSTTPV KIVEPLLPPP ATQISDLSKR KPKTEDFLTF LCLRGSPALP NSMVYFGSSQ 180 DEEEVEEEDD ETEDVKTATN NASSSCQSTP RKGKTHKHVH NGHVFNGSSR STREKEPVQK 240 HKSKEATPAK EKHSDHRADS RREQASANHP AAAPSTGSSA KGLAATHHHP PLHRSAQDLR 300 KQVSKVNGVT RMSSLGAGVT SAKKMREVRP SPSKTVKYTA TVTKGAVTYT KAKRELVKDT 360 KPNHHKPSSA VNHTISGKTE SSNAKTRKQV LSLGGASKST GPAVNGLKVS GRLNPKSCTK 420 EVGGRQLREG LQLREGLRNS KRRLEEAHQA EKPQSPPKKM KGAAGPAEGP GKKAPAERGL 480 LNGHVKKEVP ERSLERNRPK RATAGKSTPG RQAHGKADSA SCENRSTSQP ESVHKPQDSG 540 KAEKGGGKAG WAAMDEIPVL RPSAKEFHDP LIYIESVRAQ VEKFGMCRVI PPPDWRPECK 600 LNDEMRFVTQ IQHIHKLGRR WGPNVQRLAC IKKHLKSQGI TMDELPLIGG CELDLACFFR 660 LINEMGGMQQ VTDLKKWNKL ADMLRIPRTA QDRLAKLQEA YCQYLLSYDS LSPEEHRRLE 720 KEVLMEKEIL EKRKGPLEGH TENDHHKFHP LPRFEPKNGL IHGVAPRNGF RSKLKEVGQA 780 QLKTGRRRLF AQEKEVVKEE EEDKGVLNDF HKCIYKGRSV SLTTFYRTAR NIMSMCFSKE 840 PAPAEIEQEY WRLVEEKDCH VAVHCGKVDT NTHGSGFPVG KSEPFSRHGW NLTVLPNNTG 900 SILRHLGAVP GVTIPWLNIG MVFSTSCWSR DQNHLPYIDY LHTGADCIWY CIPAEEENKL 960 EDVVHTLLQA NGTPGLQMLE SNVMISPEVL CKEGIKVHRT VQQSGQFVVC FPGSFVSKVC 1020 CGYSVSETVH FATTQWTSMG FETAKEMKRR HIAKPFSMEK LLYQIAQAEA KKENGPTLST 1080 ISALLDELRD TELRQRRQLF EAGLHSSARY GSHDGSSTVA DGKKKPRKWL QLETSERRCQ 1140 ICQHLCYLSM VVQENENVVF CLECALRHVE KQKSCRGLKL MYRYDEEQII SLVNQICGKV 1200 SGKNGSIENC LSKPTPKRGP RKRATVDVPP SRLSASSSSK SASSSS 1246

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.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
5HYN
5LS6
6C23
6C24
6NQ3

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	JARID2	478729	A0A5F4DE24			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	JARID2	102184681	A0A452DTS6			Capra hircus	Prediction	More>>
1:1 ortholog	JARID2	3720	Q92833	CPO,CL/P		Homo sapiens	Publication	More>>
1:1 ortholog	Jarid2		G3UZT8		E14.5, E15.5	Mus musculus	Prediction	More>>
1:1 ortholog	JARID2	462450	A0A2I3SRS8			Pan troglodytes	Prediction	More>>
1:1 ortholog	JARID2		A0A287AMW5			Sus scrofa	Prediction	More>>
1:1 ortholog	Jarid2	681740	M0RBV7			Rattus norvegicus	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
JARID2	rs2237138T>C	Genotyping -SNaPshot minisequencing technique.	25155265
JARID2	rs2072820T>C	Linkage disequilibrium study	20506229
JARID2	rs2237149C>A	Linkage disequilibrium study	20506229
JARID2	rs2299043G>A	Linkage disequilibrium study	20506229
JARID2	rs2237138T>C	Linkage disequilibrium study	20506229
JARID2	rs2076056C>G	Linkage disequilibrium study	20506229
JARID2	rs2282819G>A	Linkage disequilibrium study	20506229

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs749166741	p.Lys3Asn	missense variant	-	NC_000006.12:g.15246548G>C	ExAC,gnomAD
rs768586719	p.Glu4Gly	missense variant	-	NC_000006.12:g.15246550A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu4Lys	missense variant	-	NC_000006.12:g.15246549G>A	NCI-TCGA
rs142735464	p.Asn9Ser	missense variant	-	NC_000006.12:g.15246565A>G	ESP,ExAC,TOPMed,gnomAD
rs142735464	p.Asn9Thr	missense variant	-	NC_000006.12:g.15246565A>C	ESP,ExAC,TOPMed,gnomAD
rs972003183	p.Ile11Leu	missense variant	-	NC_000006.12:g.15246570A>C	TOPMed
rs772152567	p.Gln12Arg	missense variant	-	NC_000006.12:g.15246574A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys14Thr	missense variant	-	NC_000006.12:g.15246580A>C	NCI-TCGA
COSM3622136	p.Asp19Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15374127A>T	NCI-TCGA Cosmic
rs1310690857	p.Gly20Ala	missense variant	-	NC_000006.12:g.15374130G>C	TOPMed
NCI-TCGA novel	p.Ile21Ser	missense variant	-	NC_000006.12:g.15374133T>G	NCI-TCGA
rs1225478355	p.Pro22Leu	missense variant	-	NC_000006.12:g.15374136C>T	TOPMed
rs1443231158	p.Ser24Pro	missense variant	-	NC_000006.12:g.15374141T>C	TOPMed,gnomAD
rs1443231158	p.Ser24Thr	missense variant	-	NC_000006.12:g.15374141T>A	TOPMed,gnomAD
COSM450756	p.Ser24Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15374142C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu25Lys	missense variant	-	NC_000006.12:g.15374144G>A	NCI-TCGA
rs756409895	p.Arg27Trp	missense variant	-	NC_000006.12:g.15374150C>T	ExAC,TOPMed,gnomAD
rs1444756292	p.Arg27Gln	missense variant	-	NC_000006.12:g.15374151G>A	TOPMed,gnomAD
rs1033019935	p.Arg30Cys	missense variant	-	NC_000006.12:g.15374159C>T	TOPMed
rs779332045	p.Arg30Leu	missense variant	-	NC_000006.12:g.15374160G>T	ExAC,gnomAD
rs779332045	p.Arg30His	missense variant	-	NC_000006.12:g.15374160G>A	ExAC,gnomAD
rs989074894	p.Phe40Leu	missense variant	-	NC_000006.12:g.15374191C>G	TOPMed
rs1410840291	p.Ser43Phe	missense variant	-	NC_000006.12:g.15374199C>T	TOPMed
rs1456926595	p.Gln44Glu	missense variant	-	NC_000006.12:g.15374201C>G	gnomAD
COSM1075190	p.Gln47His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15374212G>T	NCI-TCGA Cosmic
rs1179535963	p.His48Arg	missense variant	-	NC_000006.12:g.15374214A>G	TOPMed
rs1176454481	p.His48Gln	missense variant	-	NC_000006.12:g.15374215T>A	gnomAD
rs759145033	p.Ala49Val	missense variant	-	NC_000006.12:g.15374217C>T	ExAC,gnomAD
rs1470738311	p.Glu50Asp	missense variant	-	NC_000006.12:g.15374221A>C	gnomAD
rs775332999	p.Ala53Val	missense variant	-	NC_000006.12:g.15374229C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly54Glu	missense variant	-	NC_000006.12:g.15374232G>A	NCI-TCGA
rs1463418380	p.Ser55Arg	missense variant	-	NC_000006.12:g.15374236C>A	gnomAD
rs1399739095	p.Asn60His	missense variant	-	NC_000006.12:g.15374249A>C	gnomAD
COSM3920933	p.Leu62Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15410226C>T	NCI-TCGA Cosmic
rs1241584136	p.Leu63His	missense variant	-	NC_000006.12:g.15410230T>A	TOPMed,gnomAD
rs1441810858	p.Asn65Asp	missense variant	-	NC_000006.12:g.15410235A>G	gnomAD
rs755635298	p.Gln67Pro	missense variant	-	NC_000006.12:g.15410242A>C	ExAC,TOPMed,gnomAD
rs768387247	p.Gly72Arg	missense variant	-	NC_000006.12:g.15410256G>A	ExAC,gnomAD
rs1468960218	p.Ala74Pro	missense variant	-	NC_000006.12:g.15410262G>C	gnomAD
rs1468960218	p.Ala74Thr	missense variant	-	NC_000006.12:g.15410262G>A	gnomAD
NCI-TCGA novel	p.Ser75Ter	stop gained	-	NC_000006.12:g.15410266C>G	NCI-TCGA
NCI-TCGA novel	p.Ser75Leu	missense variant	-	NC_000006.12:g.15410266C>T	NCI-TCGA
rs748009945	p.Gln77His	missense variant	-	NC_000006.12:g.15410273G>C	ExAC,gnomAD
rs772108594	p.Glu79Asp	missense variant	-	NC_000006.12:g.15410279G>T	ExAC,TOPMed,gnomAD
rs1160974104	p.Asn80His	missense variant	-	NC_000006.12:g.15410280A>C	gnomAD
rs773353152	p.Asn80Thr	missense variant	-	NC_000006.12:g.15410281A>C	ExAC
rs1323284246	p.Asp83His	missense variant	-	NC_000006.12:g.15410289G>C	TOPMed
rs1051449833	p.Ala85Glu	missense variant	-	NC_000006.12:g.15410296C>A	TOPMed
rs905702780	p.Val88Met	missense variant	-	NC_000006.12:g.15410304G>A	gnomAD
NCI-TCGA novel	p.Ser90Pro	missense variant	-	NC_000006.12:g.15410310T>C	NCI-TCGA
rs776801156	p.Asn93Thr	missense variant	-	NC_000006.12:g.15410320A>C	ExAC,gnomAD
rs1330310335	p.Asp94Gly	missense variant	-	NC_000006.12:g.15410323A>G	TOPMed,gnomAD
rs759623258	p.Asp94Asn	missense variant	-	NC_000006.12:g.15410322G>A	ExAC,gnomAD
COSM6173129	p.Asp94His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15410322G>C	NCI-TCGA Cosmic
rs1370674535	p.Glu102Asp	missense variant	-	NC_000006.12:g.15410348A>C	gnomAD
rs1175391265	p.Ser105Pro	missense variant	-	NC_000006.12:g.15410355T>C	TOPMed
rs1308076613	p.Ser105Leu	missense variant	-	NC_000006.12:g.15410356C>T	gnomAD
rs768119421	p.Leu111Pro	missense variant	-	NC_000006.12:g.15452014T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln119Leu	missense variant	-	NC_000006.12:g.15452038A>T	NCI-TCGA
rs1169792388	p.Ser120Cys	missense variant	-	NC_000006.12:g.15452041C>G	TOPMed
rs754586847	p.Gln121His	missense variant	-	NC_000006.12:g.15452045G>C	ExAC,gnomAD
rs770962845	p.Pro122Arg	missense variant	-	NC_000006.12:g.15452047C>G	ExAC,TOPMed,gnomAD
rs770962845	p.Pro122Leu	missense variant	-	NC_000006.12:g.15452047C>T	ExAC,TOPMed,gnomAD
rs777659807	p.Asn123His	missense variant	-	NC_000006.12:g.15452049A>C	ExAC,gnomAD
rs781257693	p.Ser126Ile	missense variant	-	NC_000006.12:g.15452059G>T	ExAC,gnomAD
rs770742297	p.Ser126Gly	missense variant	-	NC_000006.12:g.15452058A>G	ExAC,gnomAD
rs745920975	p.Thr127Arg	missense variant	-	NC_000006.12:g.15452062C>G	ExAC,gnomAD
COSM4832424	p.Thr127Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15452062C>T	NCI-TCGA Cosmic
rs769805788	p.Thr128Ile	missense variant	-	NC_000006.12:g.15452065C>T	ExAC,TOPMed,gnomAD
rs769805788	p.Thr128Ser	missense variant	-	NC_000006.12:g.15452065C>G	ExAC,TOPMed,gnomAD
rs1033523894	p.Val130Leu	missense variant	-	NC_000006.12:g.15452070G>C	TOPMed,gnomAD
rs201810677	p.Ile132Thr	missense variant	-	NC_000006.12:g.15452077T>C	TOPMed,gnomAD
rs1267646313	p.Val133Met	missense variant	-	NC_000006.12:g.15452079G>A	TOPMed
rs1399551386	p.Val133Ala	missense variant	-	NC_000006.12:g.15452080T>C	TOPMed,gnomAD
rs763123477	p.Pro135Ala	missense variant	-	NC_000006.12:g.15452085C>G	ExAC,TOPMed,gnomAD
rs763123477	p.Pro135Thr	missense variant	-	NC_000006.12:g.15452085C>A	ExAC,TOPMed,gnomAD
rs774558475	p.Pro139Ala	missense variant	-	NC_000006.12:g.15452097C>G	ExAC,TOPMed,gnomAD
rs774558475	p.Pro139Thr	missense variant	-	NC_000006.12:g.15452097C>A	ExAC,TOPMed,gnomAD
rs762282628	p.Pro139His	missense variant	-	NC_000006.12:g.15452098C>A	ExAC,gnomAD
rs774558475	p.Pro139Ser	missense variant	-	NC_000006.12:g.15452097C>T	ExAC,TOPMed,gnomAD
COSM1642923	p.Pro139LeuPheSerTerUnkUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.15452094C>-	NCI-TCGA Cosmic
rs146235473	p.Gln143His	missense variant	-	NC_000006.12:g.15452111G>C	ESP,ExAC,TOPMed,gnomAD
rs1282106082	p.Ser145Leu	missense variant	-	NC_000006.12:g.15452116C>T	gnomAD
rs201685658	p.Leu147Phe	missense variant	-	NC_000006.12:g.15452121C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1240260518	p.Ser148Cys	missense variant	-	NC_000006.12:g.15452125C>G	gnomAD
rs377723819	p.Lys149Glu	missense variant	-	NC_000006.12:g.15452127A>G	ESP,TOPMed,gnomAD
rs377723819	p.Lys149Gln	missense variant	-	NC_000006.12:g.15452127A>C	ESP,TOPMed,gnomAD
COSM6105815	p.Lys151Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15452135G>T	NCI-TCGA Cosmic
COSM3777253	p.Thr154Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15452143C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu158Ile	missense variant	-	NC_000006.12:g.15452154C>A	NCI-TCGA
NCI-TCGA novel	p.Thr159Pro	missense variant	-	NC_000006.12:g.15452157A>C	NCI-TCGA
rs761102549	p.Leu161Val	missense variant	-	NC_000006.12:g.15452163C>G	ExAC,gnomAD
rs1396135528	p.Arg164Gln	missense variant	-	NC_000006.12:g.15452173G>A	gnomAD
rs371399734	p.Arg164Ter	stop gained	-	NC_000006.12:g.15452172C>T	ESP,ExAC,gnomAD
rs1266236996	p.Ser166Thr	missense variant	-	NC_000006.12:g.15468544T>A	TOPMed
rs1401727572	p.Pro167Ser	missense variant	-	NC_000006.12:g.15468547C>T	gnomAD
rs1164828046	p.Ala168Val	missense variant	-	NC_000006.12:g.15468551C>T	gnomAD
COSM6105813	p.Ala168Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15468550G>T	NCI-TCGA Cosmic
rs1464865880	p.Asn171Ser	missense variant	-	NC_000006.12:g.15468560A>G	gnomAD
rs1290138725	p.Asn171Asp	missense variant	-	NC_000006.12:g.15468559A>G	TOPMed
rs1410294338	p.Ser172Asn	missense variant	-	NC_000006.12:g.15468563G>A	TOPMed
rs1334969891	p.Ser172Arg	missense variant	-	NC_000006.12:g.15468564C>G	TOPMed
COSM1075238	p.Ser172Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15468563G>T	NCI-TCGA Cosmic
rs772426965	p.Met173Ile	missense variant	-	NC_000006.12:g.15468567G>A	ExAC,gnomAD
rs370641057	p.Tyr175Cys	missense variant	-	NC_000006.12:g.15468572A>G	ESP,ExAC,TOPMed,gnomAD
rs1441241038	p.Phe176Tyr	missense variant	-	NC_000006.12:g.15468575T>A	TOPMed,gnomAD
rs572713175	p.Ser178Asn	missense variant	-	NC_000006.12:g.15468581G>A	1000Genomes,ExAC,gnomAD
rs752219216	p.Asp181Asn	missense variant	-	NC_000006.12:g.15468589G>A	ExAC,gnomAD
rs139309523	p.Glu182Gly	missense variant	-	NC_000006.12:g.15468593A>G	ESP,ExAC,TOPMed,gnomAD
rs145677498	p.Glu183Gln	missense variant	-	NC_000006.12:g.15468595G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs756863900	p.Glu183Val	missense variant	-	NC_000006.12:g.15468596A>T	ExAC,gnomAD
rs145677498	p.Glu183Ter	stop gained	-	NC_000006.12:g.15468595G>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM4850307	p.Glu184Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15468598G>A	NCI-TCGA Cosmic
rs750210223	p.Val185Ile	missense variant	-	NC_000006.12:g.15468601G>A	ExAC,gnomAD
COSM1075239	p.Val185Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15468601G>T	NCI-TCGA Cosmic
rs780008195	p.Glu186Lys	missense variant	-	NC_000006.12:g.15468604G>A	ExAC,TOPMed,gnomAD
rs780008195	p.Glu186Gln	missense variant	-	NC_000006.12:g.15468604G>C	ExAC,TOPMed,gnomAD
rs749368838	p.Glu187Ala	missense variant	-	NC_000006.12:g.15468608A>C	ExAC,gnomAD
rs374027190	p.Glu188Gln	missense variant	-	NC_000006.12:g.15468610G>C	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Asp189His	missense variant	-	NC_000006.12:g.15468613G>C	NCI-TCGA
rs778875717	p.Asp190Glu	missense variant	-	NC_000006.12:g.15468618T>G	ExAC,TOPMed,gnomAD
rs376870539	p.Glu191Gln	missense variant	-	NC_000006.12:g.15468619G>C	ESP,ExAC,TOPMed,gnomAD
rs376870539	p.Glu191Lys	missense variant	-	NC_000006.12:g.15468619G>A	ESP,ExAC,TOPMed,gnomAD
COSM4922419	p.Thr192Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15468622A>T	NCI-TCGA Cosmic
rs1332780131	p.Asp194Tyr	missense variant	-	NC_000006.12:g.15468628G>T	TOPMed
rs747413362	p.Asp194Val	missense variant	-	NC_000006.12:g.15468629A>T	ExAC,gnomAD
rs200497643	p.Val195Ile	missense variant	-	NC_000006.12:g.15468631G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM4927628	p.Lys196Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15468634A>C	NCI-TCGA Cosmic
rs760133490	p.Thr197Pro	missense variant	-	NC_000006.12:g.15468637A>C	ExAC
rs980717137	p.Thr199Ala	missense variant	-	NC_000006.12:g.15468643A>G	TOPMed
rs553690732	p.Asn200Ser	missense variant	-	NC_000006.12:g.15468647A>G	ExAC,TOPMed,gnomAD
rs1390247649	p.Ala202Val	missense variant	-	NC_000006.12:g.15468653C>T	TOPMed
rs781498881	p.Ala202Ser	missense variant	-	NC_000006.12:g.15468652G>T	TOPMed
COSM3777254	p.Ser203Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15468656C>T	NCI-TCGA Cosmic
rs750188402	p.Ser204Phe	missense variant	-	NC_000006.12:g.15468659C>T	ExAC,gnomAD
rs182974887	p.Ser208Leu	missense variant	-	NC_000006.12:g.15468671C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs928811964	p.Thr209Asn	missense variant	-	NC_000006.12:g.15468674C>A	TOPMed,gnomAD
rs1483607607	p.Pro210Ser	missense variant	-	NC_000006.12:g.15468676C>T	gnomAD
rs1396008016	p.Pro210Leu	missense variant	-	NC_000006.12:g.15468677C>T	TOPMed
COSM3622168	p.Pro210Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15468676C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly213Glu	missense variant	-	NC_000006.12:g.15468686G>A	NCI-TCGA
NCI-TCGA novel	p.Thr215Ala	missense variant	-	NC_000006.12:g.15468691A>G	NCI-TCGA
rs145857477	p.His216Asn	missense variant	-	NC_000006.12:g.15468694C>A	ESP,ExAC,TOPMed,gnomAD
rs753721185	p.His216Gln	missense variant	-	NC_000006.12:g.15468696C>A	ExAC,gnomAD
rs145857477	p.His216Tyr	missense variant	-	NC_000006.12:g.15468694C>T	ESP,ExAC,TOPMed,gnomAD
rs754916441	p.Lys217Arg	missense variant	-	NC_000006.12:g.15468698A>G	ExAC,TOPMed,gnomAD
rs1446497684	p.Gly222Arg	missense variant	-	NC_000006.12:g.15468712G>A	TOPMed
rs1283195188	p.His223Pro	missense variant	-	NC_000006.12:g.15468716A>C	gnomAD
rs778012192	p.Asn226Ile	missense variant	-	NC_000006.12:g.15487313A>T	ExAC,TOPMed,gnomAD
rs778012192	p.Asn226Ser	missense variant	-	NC_000006.12:g.15487313A>G	ExAC,TOPMed,gnomAD
rs781648460	p.Gly227Val	missense variant	-	NC_000006.12:g.15487316G>T	ExAC,TOPMed,gnomAD
rs1206976241	p.Ser228Phe	missense variant	-	NC_000006.12:g.15487319C>T	gnomAD
rs1422853299	p.Ser228Thr	missense variant	-	NC_000006.12:g.15487318T>A	TOPMed
rs770303643	p.Ser229Asn	missense variant	-	NC_000006.12:g.15487322G>A	ExAC,gnomAD
rs1192037591	p.Ser231Pro	missense variant	-	NC_000006.12:g.15487327T>C	gnomAD
rs1255089024	p.Thr232Ala	missense variant	-	NC_000006.12:g.15487330A>G	TOPMed,gnomAD
rs780494402	p.Thr232Ile	missense variant	-	NC_000006.12:g.15487331C>T	ExAC,gnomAD
rs747681691	p.Arg233Trp	missense variant	-	NC_000006.12:g.15487333C>T	ExAC,gnomAD
rs556898531	p.Arg233Gln	missense variant	-	NC_000006.12:g.15487334G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs556898531	p.Arg233Gln	missense variant	-	NC_000006.12:g.15487334G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1388806177	p.Lys235Asn	missense variant	-	NC_000006.12:g.15487341G>C	gnomAD
rs1323533165	p.Pro237Arg	missense variant	-	NC_000006.12:g.15487346C>G	TOPMed,gnomAD
rs963966392	p.Val238Leu	missense variant	-	NC_000006.12:g.15487348G>C	TOPMed
rs35990127	p.Gln239Pro	missense variant	-	NC_000006.12:g.15487352A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM6173116	p.Lys240Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15487355A>T	NCI-TCGA Cosmic
rs1019738276	p.His241Gln	missense variant	-	NC_000006.12:g.15487359C>G	gnomAD
rs1306668275	p.His241Leu	missense variant	-	NC_000006.12:g.15487358A>T	gnomAD
rs1306668275	p.His241Arg	missense variant	-	NC_000006.12:g.15487358A>G	gnomAD
rs900993770	p.Lys242Arg	missense variant	-	NC_000006.12:g.15487361A>G	TOPMed,gnomAD
COSM1075243	p.Ala246Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15487372G>A	NCI-TCGA Cosmic
rs770596635	p.Thr247Ala	missense variant	-	NC_000006.12:g.15487375A>G	ExAC,gnomAD
rs774068185	p.Pro248Leu	missense variant	-	NC_000006.12:g.15487379C>T	ExAC,TOPMed,gnomAD
rs774068185	p.Pro248His	missense variant	-	NC_000006.12:g.15487379C>A	ExAC,TOPMed,gnomAD
rs774068185	p.Pro248Leu	missense variant	-	NC_000006.12:g.15487379C>T	NCI-TCGA,NCI-TCGA Cosmic
rs558863604	p.Ala249Gly	missense variant	-	NC_000006.12:g.15487382C>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ala249Val	missense variant	-	NC_000006.12:g.15487382C>T	NCI-TCGA
rs1211851406	p.Ala249Thr	missense variant	-	NC_000006.12:g.15487381G>A	gnomAD
rs1211851406	p.Ala249Thr	missense variant	-	NC_000006.12:g.15487381G>A	NCI-TCGA
rs762951513	p.Asp255Asn	missense variant	-	NC_000006.12:g.15487399G>A	ExAC,gnomAD
rs764227614	p.Asp255Val	missense variant	-	NC_000006.12:g.15487400A>T	ExAC,gnomAD
rs945856683	p.His256Arg	missense variant	-	NC_000006.12:g.15487403A>G	TOPMed
NCI-TCGA novel	p.His256ProPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.15487403A>-	NCI-TCGA
rs751710718	p.His256Asp	missense variant	-	NC_000006.12:g.15487402C>G	ExAC,gnomAD
rs750797182	p.Arg257Gln	missense variant	-	NC_000006.12:g.15487406G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg257Pro	missense variant	-	NC_000006.12:g.15487406G>C	NCI-TCGA
rs368404283	p.Arg257Trp	missense variant	-	NC_000006.12:g.15487405C>T	ESP,ExAC,TOPMed,gnomAD
rs368404283	p.Arg257Trp	missense variant	-	NC_000006.12:g.15487405C>T	NCI-TCGA
rs1458153207	p.Ala258Thr	missense variant	-	NC_000006.12:g.15487408G>A	gnomAD
rs756494750	p.Ala258Val	missense variant	-	NC_000006.12:g.15487409C>T	ExAC,TOPMed,gnomAD
rs1369522282	p.Asp259Gly	missense variant	-	NC_000006.12:g.15487412A>G	TOPMed
rs780484411	p.Ser260Cys	missense variant	-	NC_000006.12:g.15487414A>T	ExAC,gnomAD
rs190493478	p.Arg261His	missense variant	-	NC_000006.12:g.15487418G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749694581	p.Arg261Ser	missense variant	-	NC_000006.12:g.15487417C>A	ExAC,TOPMed,gnomAD
rs749694581	p.Arg261Cys	missense variant	-	NC_000006.12:g.15487417C>T	ExAC,TOPMed,gnomAD
rs746559577	p.Arg262Trp	missense variant	-	NC_000006.12:g.15487420C>T	ExAC,gnomAD
rs761828289	p.Arg262Gln	missense variant	-	NC_000006.12:g.15487421G>A	ExAC,TOPMed,gnomAD
rs761828289	p.Arg262Leu	missense variant	-	NC_000006.12:g.15487421G>T	ExAC,TOPMed,gnomAD
rs746559577	p.Arg262Trp	missense variant	-	NC_000006.12:g.15487420C>T	NCI-TCGA
rs1322403563	p.Glu263Ter	stop gained	-	NC_000006.12:g.15487423G>T	gnomAD
NCI-TCGA novel	p.Gln264Leu	missense variant	-	NC_000006.12:g.15487427A>T	NCI-TCGA
rs768346575	p.Ala265Pro	missense variant	-	NC_000006.12:g.15487429G>C	TOPMed,gnomAD
rs768346575	p.Ala265Thr	missense variant	-	NC_000006.12:g.15487429G>A	TOPMed,gnomAD
rs776321013	p.Ser266Pro	missense variant	-	NC_000006.12:g.15487432T>C	ExAC,TOPMed,gnomAD
rs769407485	p.His269Tyr	missense variant	-	NC_000006.12:g.15487441C>T	ExAC,gnomAD
rs769407485	p.His269Asn	missense variant	-	NC_000006.12:g.15487441C>A	ExAC,gnomAD
rs375269082	p.Pro270Leu	missense variant	-	NC_000006.12:g.15487445C>T	ESP,ExAC,gnomAD
rs369809671	p.Ala271Thr	missense variant	-	NC_000006.12:g.15487447G>A	ExAC,TOPMed,gnomAD
rs1251378189	p.Ala272Val	missense variant	-	NC_000006.12:g.15487451C>T	TOPMed
rs762051404	p.Thr276Met	missense variant	-	NC_000006.12:g.15487463C>T	ExAC,TOPMed,gnomAD
rs762051404	p.Thr276Met	missense variant	-	NC_000006.12:g.15487463C>T	NCI-TCGA
rs376665598	p.Ser279Leu	missense variant	-	NC_000006.12:g.15487472C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala280Val	missense variant	-	NC_000006.12:g.15487475C>T	NCI-TCGA
rs1439905189	p.Lys281Glu	missense variant	-	NC_000006.12:g.15487477A>G	TOPMed
rs773985835	p.Gly282Glu	missense variant	-	NC_000006.12:g.15487481G>A	TOPMed,gnomAD
rs756367323	p.Leu283Val	missense variant	-	NC_000006.12:g.15487483C>G	ExAC,gnomAD
rs756367323	p.Leu283Phe	missense variant	-	NC_000006.12:g.15487483C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala284Asp	missense variant	-	NC_000006.12:g.15487487C>A	NCI-TCGA
rs929049349	p.Ala284Ser	missense variant	-	NC_000006.12:g.15487486G>T	gnomAD
rs200046051	p.Thr286Ile	missense variant	-	NC_000006.12:g.15487493C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369838113	p.His287Arg	missense variant	-	NC_000006.12:g.15487496A>G	ESP,ExAC,TOPMed,gnomAD
rs755458993	p.His287Tyr	missense variant	-	NC_000006.12:g.15487495C>T	ExAC,gnomAD
rs1275003205	p.His288Arg	missense variant	-	NC_000006.12:g.15487499A>G	gnomAD
rs746504663	p.His288Gln	missense variant	-	NC_000006.12:g.15487500C>G	ExAC,TOPMed,gnomAD
rs201789074	p.Pro290Ser	missense variant	-	NC_000006.12:g.15487504C>T	ExAC,TOPMed,gnomAD
rs201789074	p.Pro290Ala	missense variant	-	NC_000006.12:g.15487504C>G	ExAC,TOPMed,gnomAD
rs761856984	p.Pro291His	missense variant	-	NC_000006.12:g.15487508C>A	ExAC,TOPMed,gnomAD
rs761856984	p.Pro291Arg	missense variant	-	NC_000006.12:g.15487508C>G	ExAC,TOPMed,gnomAD
rs755892589	p.Pro291Ala	missense variant	-	NC_000006.12:g.15487507C>G	ExAC,TOPMed,gnomAD
rs755892589	p.Pro291Thr	missense variant	-	NC_000006.12:g.15487507C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro291LeuPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.15487503C>-	NCI-TCGA
rs755892589	p.Pro291Ser	missense variant	-	NC_000006.12:g.15487507C>T	ExAC,TOPMed,gnomAD
rs1190801806	p.His293Gln	missense variant	-	NC_000006.12:g.15487515T>G	TOPMed
rs773374579	p.Arg294Gln	missense variant	-	NC_000006.12:g.15487517G>A	ExAC,gnomAD
rs773374579	p.Arg294Gln	missense variant	-	NC_000006.12:g.15487517G>A	NCI-TCGA
rs760762790	p.Ser295Leu	missense variant	-	NC_000006.12:g.15487520C>T	ExAC,TOPMed,gnomAD
rs766675962	p.Ala296Ser	missense variant	-	NC_000006.12:g.15487522G>T	ExAC,gnomAD
rs1203485029	p.Asp298Gly	missense variant	-	NC_000006.12:g.15487529A>G	TOPMed
rs375479047	p.Arg300Gly	missense variant	-	NC_000006.12:g.15487534C>G	ExAC,TOPMed,gnomAD
rs375479047	p.Arg300Trp	missense variant	-	NC_000006.12:g.15487534C>T	ExAC,TOPMed,gnomAD
rs1360210107	p.Arg300Gln	missense variant	-	NC_000006.12:g.15487535G>A	TOPMed,gnomAD
rs753477468	p.Val303Phe	missense variant	-	NC_000006.12:g.15496132G>T	ExAC,gnomAD
rs1327619724	p.Ser304Cys	missense variant	-	NC_000006.12:g.15496136C>G	TOPMed
rs1441172648	p.Gly308Arg	missense variant	-	NC_000006.12:g.15496147G>A	gnomAD
rs1441172648	p.Gly308Arg	missense variant	-	NC_000006.12:g.15496147G>A	NCI-TCGA
rs1306142295	p.Val309Ile	missense variant	-	NC_000006.12:g.15496150G>A	gnomAD
rs1228491036	p.Thr310Ile	missense variant	-	NC_000006.12:g.15496154C>T	TOPMed,gnomAD
rs1352205655	p.Thr310Ala	missense variant	-	NC_000006.12:g.15496153A>G	TOPMed,gnomAD
rs1352205655	p.Thr310Ser	missense variant	-	NC_000006.12:g.15496153A>T	TOPMed,gnomAD
rs1352205655	p.Thr310Ala	missense variant	-	NC_000006.12:g.15496153A>G	NCI-TCGA
rs1228491036	p.Thr310Ser	missense variant	-	NC_000006.12:g.15496154C>G	TOPMed,gnomAD
rs1228491036	p.Thr310Ile	missense variant	-	NC_000006.12:g.15496154C>T	NCI-TCGA
rs911838647	p.Arg311Gly	missense variant	-	NC_000006.12:g.15496156C>G	TOPMed,gnomAD
rs1040870474	p.Arg311Gln	missense variant	-	NC_000006.12:g.15496157G>A	TOPMed,gnomAD
rs1040870474	p.Arg311Leu	missense variant	-	NC_000006.12:g.15496157G>T	TOPMed,gnomAD
rs138993031	p.Met312Thr	missense variant	-	NC_000006.12:g.15496160T>C	1000Genomes,TOPMed,gnomAD
NCI-TCGA novel	p.Met312Ile	missense variant	-	NC_000006.12:g.15496161G>A	NCI-TCGA
rs1290104852	p.Ser313Pro	missense variant	-	NC_000006.12:g.15496162T>C	gnomAD
rs748009817	p.Ser314Pro	missense variant	-	NC_000006.12:g.15496165T>C	ExAC,TOPMed,gnomAD
rs374542117	p.Ser314Tyr	missense variant	-	NC_000006.12:g.15496166C>A	ESP,ExAC,TOPMed,gnomAD
rs374542117	p.Ser314Phe	missense variant	-	NC_000006.12:g.15496166C>T	ESP,ExAC,TOPMed,gnomAD
rs1478512939	p.Leu315Pro	missense variant	-	NC_000006.12:g.15496169T>C	TOPMed
rs1483629072	p.Gly316Asp	missense variant	-	NC_000006.12:g.15496172G>A	gnomAD
rs1219568800	p.Gly318Asp	missense variant	-	NC_000006.12:g.15496178G>A	TOPMed
rs746930256	p.Gly318Arg	missense variant	-	NC_000006.12:g.15496177G>C	ExAC,TOPMed,gnomAD
rs866661986	p.Thr320Asn	missense variant	-	NC_000006.12:g.15496184C>A	gnomAD
rs776720223	p.Ser321Gly	missense variant	-	NC_000006.12:g.15496186A>G	ExAC,gnomAD
rs377617337	p.Ala322Val	missense variant	-	NC_000006.12:g.15496190C>T	ESP,ExAC,TOPMed,gnomAD
rs1286770329	p.Met325Ile	missense variant	-	NC_000006.12:g.15496200G>C	TOPMed
rs141622693	p.Arg326Leu	missense variant	-	NC_000006.12:g.15496202G>T	ESP,ExAC,TOPMed,gnomAD
rs141622693	p.Arg326His	missense variant	-	NC_000006.12:g.15496202G>A	ESP,ExAC,TOPMed,gnomAD
rs148019312	p.Arg326Cys	missense variant	-	NC_000006.12:g.15496201C>T	ESP,ExAC,TOPMed,gnomAD
rs1366548978	p.Glu327Gly	missense variant	-	NC_000006.12:g.15496205A>G	TOPMed
rs752048243	p.Glu327Lys	missense variant	-	NC_000006.12:g.15496204G>A	ExAC,gnomAD
rs762232615	p.Val328Ile	missense variant	-	NC_000006.12:g.15496207G>A	ExAC,gnomAD
rs762232615	p.Val328Phe	missense variant	-	NC_000006.12:g.15496207G>T	ExAC,gnomAD
rs1272720437	p.Arg329Gly	missense variant	-	NC_000006.12:g.15496210A>G	TOPMed
rs1410434468	p.Pro332Ser	missense variant	-	NC_000006.12:g.15496219C>T	TOPMed,gnomAD
rs1345292024	p.Pro332Leu	missense variant	-	NC_000006.12:g.15496220C>T	TOPMed
NCI-TCGA novel	p.Ser333Phe	missense variant	-	NC_000006.12:g.15496223C>T	NCI-TCGA
rs1284445781	p.Thr335Ala	missense variant	-	NC_000006.12:g.15496228A>G	gnomAD
rs753422776	p.Thr335Ile	missense variant	-	NC_000006.12:g.15496229C>T	ExAC,TOPMed,gnomAD
rs753422776	p.Thr335Ser	missense variant	-	NC_000006.12:g.15496229C>G	ExAC,TOPMed,gnomAD
rs778752172	p.Val336Met	missense variant	-	NC_000006.12:g.15496231G>A	ExAC,gnomAD
rs778752172	p.Val336Leu	missense variant	-	NC_000006.12:g.15496231G>C	ExAC,gnomAD
rs1210856487	p.Ala340Val	missense variant	-	NC_000006.12:g.15496244C>T	TOPMed,gnomAD
rs1210856487	p.Ala340Val	missense variant	-	NC_000006.12:g.15496244C>T	NCI-TCGA
rs560504507	p.Thr341Met	missense variant	-	NC_000006.12:g.15496247C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr341Ala	missense variant	-	NC_000006.12:g.15496246A>G	NCI-TCGA
rs758149896	p.Val342Met	missense variant	-	NC_000006.12:g.15496249G>A	ExAC,gnomAD
rs539847575	p.Thr343Met	missense variant	-	NC_000006.12:g.15496253C>T	gnomAD
rs1415412278	p.Thr343Ala	missense variant	-	NC_000006.12:g.15496252A>G	TOPMed
rs1442773654	p.Gly345Arg	missense variant	-	NC_000006.12:g.15496258G>C	gnomAD
rs1474513395	p.Gly345Ala	missense variant	-	NC_000006.12:g.15496259G>C	gnomAD
COSM3859822	p.Ala346Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15496262C>A	NCI-TCGA Cosmic
rs746921290	p.Val347Ile	missense variant	-	NC_000006.12:g.15496264G>A	ExAC,gnomAD
rs770793526	p.Thr348Ile	missense variant	-	NC_000006.12:g.15496268C>T	ExAC,gnomAD
rs1476492388	p.Thr350Asn	missense variant	-	NC_000006.12:g.15496274C>A	TOPMed
rs1399915017	p.Glu355Gly	missense variant	-	NC_000006.12:g.15496289A>G	gnomAD
rs1172967249	p.Glu355Lys	missense variant	-	NC_000006.12:g.15496288G>A	gnomAD
rs1302207428	p.Glu355Asp	missense variant	-	NC_000006.12:g.15496290A>C	TOPMed,gnomAD
rs1172967249	p.Glu355Gln	missense variant	-	NC_000006.12:g.15496288G>C	gnomAD
rs999055511	p.Leu356Gln	missense variant	-	NC_000006.12:g.15496292T>A	gnomAD
rs769997586	p.Asp359Gly	missense variant	-	NC_000006.12:g.15496301A>G	ExAC,gnomAD
COSM3622171	p.Asp359His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15496300G>C	NCI-TCGA Cosmic
rs1035929001	p.Lys361Arg	missense variant	-	NC_000006.12:g.15496307A>G	gnomAD
rs1035929001	p.Lys361Ile	missense variant	-	NC_000006.12:g.15496307A>T	gnomAD
rs749486167	p.Pro362Ser	missense variant	-	NC_000006.12:g.15496309C>T	ExAC,TOPMed,gnomAD
rs1233971799	p.Pro362His	missense variant	-	NC_000006.12:g.15496310C>A	TOPMed,gnomAD
rs749486167	p.Pro362Thr	missense variant	-	NC_000006.12:g.15496309C>A	ExAC,TOPMed,gnomAD
rs1254789532	p.Asn363Asp	missense variant	-	NC_000006.12:g.15496312A>G	gnomAD
rs41267696	p.His365Gln	missense variant	-	NC_000006.12:g.15496320C>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM450777	p.Pro367Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15496325C>G	NCI-TCGA Cosmic
rs1283738793	p.Ser368Cys	missense variant	-	NC_000006.12:g.15496327A>T	TOPMed,gnomAD
rs774611765	p.Ser368Asn	missense variant	-	NC_000006.12:g.15496328G>A	ExAC,gnomAD
rs1283738793	p.Ser368Arg	missense variant	-	NC_000006.12:g.15496327A>C	TOPMed,gnomAD
rs1340722347	p.Ser369Cys	missense variant	-	NC_000006.12:g.15496331C>G	TOPMed
rs961851776	p.Ala370Thr	missense variant	-	NC_000006.12:g.15496333G>A	TOPMed,gnomAD
rs961851776	p.Ala370Ser	missense variant	-	NC_000006.12:g.15496333G>T	TOPMed,gnomAD
rs1192708995	p.Ile375Thr	missense variant	-	NC_000006.12:g.15496349T>C	gnomAD
rs759187745	p.Thr379Ile	missense variant	-	NC_000006.12:g.15496361C>T	ExAC,gnomAD
rs752327419	p.Ser382Arg	missense variant	-	NC_000006.12:g.15496371C>A	ExAC,gnomAD
rs1455158699	p.Ser382Asn	missense variant	-	NC_000006.12:g.15496370G>A	gnomAD
rs758014536	p.Asn383His	missense variant	-	NC_000006.12:g.15496372A>C	ExAC,gnomAD
rs758014536	p.Asn383Asp	missense variant	-	NC_000006.12:g.15496372A>G	ExAC,gnomAD
rs763898041	p.Asn383Ser	missense variant	-	NC_000006.12:g.15496373A>G	ExAC,TOPMed,gnomAD
rs751358037	p.Ala384Gly	missense variant	-	NC_000006.12:g.15496376C>G	ExAC,gnomAD
rs757186436	p.Lys385Thr	missense variant	-	NC_000006.12:g.15496379A>C	ExAC,gnomAD
COSM483595	p.Lys385Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15496380A>T	NCI-TCGA Cosmic
rs781172302	p.Thr386Ser	missense variant	-	NC_000006.12:g.15496381A>T	ExAC,gnomAD
rs551551471	p.Arg387Cys	missense variant	-	NC_000006.12:g.15496384C>T	ExAC,TOPMed,gnomAD
rs146276296	p.Arg387His	missense variant	-	NC_000006.12:g.15496385G>A	ESP,ExAC,TOPMed,gnomAD
rs1269018625	p.Lys388Gln	missense variant	-	NC_000006.12:g.15496387A>C	gnomAD
rs1468150832	p.Lys388Thr	missense variant	-	NC_000006.12:g.15496388A>C	gnomAD
rs1208280140	p.Val390Leu	missense variant	-	NC_000006.12:g.15496393G>T	gnomAD
rs549333235	p.Leu391Pro	missense variant	-	NC_000006.12:g.15496397T>C	1000Genomes,ExAC,gnomAD
rs1199541052	p.Ser392Cys	missense variant	-	NC_000006.12:g.15496400C>G	gnomAD
COSM3622172	p.Ser392Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15496400C>T	NCI-TCGA Cosmic
rs774758348	p.Gly394Glu	missense variant	-	NC_000006.12:g.15496406G>A	ExAC,gnomAD
rs768784464	p.Gly394Arg	missense variant	-	NC_000006.12:g.15496405G>A	ExAC,gnomAD
rs774758348	p.Gly394Ala	missense variant	-	NC_000006.12:g.15496406G>C	ExAC,gnomAD
rs774758348	p.Gly394Val	missense variant	-	NC_000006.12:g.15496406G>T	ExAC,gnomAD
rs1412263871	p.Ala396Thr	missense variant	-	NC_000006.12:g.15496411G>A	gnomAD
rs773919057	p.Ala396Val	missense variant	-	NC_000006.12:g.15496412C>T	ExAC,TOPMed,gnomAD
rs778734711	p.Ala396GlyPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.15496404_15496405insG	NCI-TCGA
COSM6028036	p.Ala396ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.15496405G>-	NCI-TCGA Cosmic
rs764796093	p.Lys398Thr	missense variant	-	NC_000006.12:g.15496418A>C	ExAC,gnomAD
rs764796093	p.Lys398Arg	missense variant	-	NC_000006.12:g.15496418A>G	ExAC,gnomAD
rs144274940	p.Ser399Pro	missense variant	-	NC_000006.12:g.15496420T>C	1000Genomes,ESP,TOPMed,gnomAD
rs144274940	p.Ser399Ala	missense variant	-	NC_000006.12:g.15496420T>G	1000Genomes,ESP,TOPMed,gnomAD
rs373768513	p.Gly401Arg	missense variant	-	NC_000006.12:g.15496426G>A	ESP,TOPMed
rs142358716	p.Ala403Thr	missense variant	-	NC_000006.12:g.15496432G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751363793	p.Val404Phe	missense variant	-	NC_000006.12:g.15496435G>T	ExAC,TOPMed,gnomAD
rs751363793	p.Val404Ile	missense variant	-	NC_000006.12:g.15496435G>A	ExAC,TOPMed,gnomAD
rs751363793	p.Val404Leu	missense variant	-	NC_000006.12:g.15496435G>C	ExAC,TOPMed,gnomAD
rs151240501	p.Asn405Ser	missense variant	-	NC_000006.12:g.15496439A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376486188	p.Gly406Ser	missense variant	-	NC_000006.12:g.15496441G>A	ESP,ExAC,TOPMed,gnomAD
rs372286993	p.Gly411Cys	missense variant	-	NC_000006.12:g.15496456G>T	ESP,ExAC,TOPMed,gnomAD
rs1251981998	p.Gly411Val	missense variant	-	NC_000006.12:g.15496457G>T	gnomAD
rs372286993	p.Gly411Ser	missense variant	-	NC_000006.12:g.15496456G>A	ESP,ExAC,TOPMed,gnomAD
rs780061509	p.Asn414Ile	missense variant	-	NC_000006.12:g.15496466A>T	ExAC,gnomAD
rs755198929	p.Pro415Arg	missense variant	-	NC_000006.12:g.15496469C>G	ExAC,TOPMed,gnomAD
rs755198929	p.Pro415Leu	missense variant	-	NC_000006.12:g.15496469C>T	ExAC,TOPMed,gnomAD
rs376615516	p.Pro415Thr	missense variant	-	NC_000006.12:g.15496468C>A	ESP,ExAC,TOPMed,gnomAD
COSM1311738	p.Ser417Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15496475C>T	NCI-TCGA Cosmic
rs202037781	p.Cys418Arg	missense variant	-	NC_000006.12:g.15496477T>C	1000Genomes,ExAC,gnomAD
rs748536010	p.Lys420Glu	missense variant	-	NC_000006.12:g.15496483A>G	ExAC,gnomAD
rs1043793690	p.Lys420Arg	missense variant	-	NC_000006.12:g.15496484A>G	TOPMed
rs903863527	p.Val422Met	missense variant	-	NC_000006.12:g.15496489G>A	TOPMed,gnomAD
rs903863527	p.Val422Leu	missense variant	-	NC_000006.12:g.15496489G>T	TOPMed,gnomAD
rs867980083	p.Val422Glu	missense variant	-	NC_000006.12:g.15496490T>A	TOPMed
rs867980083	p.Val422Gly	missense variant	-	NC_000006.12:g.15496490T>G	TOPMed
rs762435222	p.Gly423Ala	missense variant	-	NC_000006.12:g.15496493G>C	ExAC,TOPMed,gnomAD
rs771612168	p.Gly423Arg	missense variant	-	NC_000006.12:g.15496492G>A	ExAC,TOPMed,gnomAD
rs771612168	p.Gly423Trp	missense variant	-	NC_000006.12:g.15496492G>T	ExAC,TOPMed,gnomAD
rs762435222	p.Gly423Glu	missense variant	-	NC_000006.12:g.15496493G>A	ExAC,TOPMed,gnomAD
rs771612168	p.Gly423Arg	missense variant	-	NC_000006.12:g.15496492G>C	ExAC,TOPMed,gnomAD
rs1273731136	p.Gly424Trp	missense variant	-	NC_000006.12:g.15496495G>T	gnomAD
rs768340245	p.Gly424Glu	missense variant	-	NC_000006.12:g.15496496G>A	ExAC,TOPMed,gnomAD
rs768340245	p.Gly424Val	missense variant	-	NC_000006.12:g.15496496G>T	ExAC,TOPMed,gnomAD
rs573872359	p.Arg425Gln	missense variant	-	NC_000006.12:g.15496499G>A	1000Genomes,TOPMed
rs773817512	p.Arg425Trp	missense variant	-	NC_000006.12:g.15496498C>T	ExAC,TOPMed,gnomAD
COSM1239175	p.Arg425GlyPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.15496491G>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln426SerPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.15496499G>-	NCI-TCGA
rs536409098	p.Arg428Trp	missense variant	-	NC_000006.12:g.15496507C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs767261258	p.Arg428Pro	missense variant	-	NC_000006.12:g.15496508G>C	ExAC,gnomAD
rs767261258	p.Arg428Gln	missense variant	-	NC_000006.12:g.15496508G>A	ExAC,gnomAD
rs760586123	p.Glu429Lys	missense variant	-	NC_000006.12:g.15496510G>A	ExAC,TOPMed,gnomAD
rs556092630	p.Glu429Gly	missense variant	-	NC_000006.12:g.15496511A>G	1000Genomes
rs753950992	p.Leu431Arg	missense variant	-	NC_000006.12:g.15496517T>G	ExAC,gnomAD
rs753950992	p.Leu431Gln	missense variant	-	NC_000006.12:g.15496517T>A	ExAC,gnomAD
rs779068407	p.Arg434Trp	missense variant	-	NC_000006.12:g.15496525C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly436Val	missense variant	-	NC_000006.12:g.15496532G>T	NCI-TCGA
rs1271569797	p.Arg438Trp	missense variant	-	NC_000006.12:g.15496537C>T	TOPMed,gnomAD
rs1311463959	p.Arg443Lys	missense variant	-	NC_000006.12:g.15496553G>A	gnomAD
rs1207923027	p.Leu444Pro	missense variant	-	NC_000006.12:g.15496556T>C	gnomAD
rs1483275935	p.Glu445Gly	missense variant	-	NC_000006.12:g.15496559A>G	gnomAD
rs868306515	p.His448Arg	missense variant	-	NC_000006.12:g.15496568A>G	-
rs771552957	p.Ala450Val	missense variant	-	NC_000006.12:g.15496574C>T	ExAC,TOPMed
rs1189548443	p.Glu451Gly	missense variant	-	NC_000006.12:g.15496577A>G	gnomAD
rs746391660	p.Lys452Glu	missense variant	-	NC_000006.12:g.15496579A>G	ExAC,gnomAD
rs767993155	p.Lys452Asn	missense variant	-	NC_000006.12:g.15496581G>C	ExAC,TOPMed,gnomAD
rs761413681	p.Pro453Gln	missense variant	-	NC_000006.12:g.15496583C>A	ExAC,TOPMed,gnomAD
rs773934437	p.Pro453Ser	missense variant	-	NC_000006.12:g.15496582C>T	ExAC,gnomAD
rs761413681	p.Pro453Leu	missense variant	-	NC_000006.12:g.15496583C>T	ExAC,TOPMed,gnomAD
rs544346196	p.Gln454His	missense variant	-	NC_000006.12:g.15496587G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs760518769	p.Ser455Leu	missense variant	-	NC_000006.12:g.15496589C>T	ExAC,gnomAD
rs753647784	p.Pro456Ser	missense variant	-	NC_000006.12:g.15496591C>T	ExAC,TOPMed,gnomAD
rs765195461	p.Pro456His	missense variant	-	NC_000006.12:g.15496592C>A	ExAC,gnomAD
rs753647784	p.Pro456Thr	missense variant	-	NC_000006.12:g.15496591C>A	ExAC,TOPMed,gnomAD
rs765195461	p.Pro456Leu	missense variant	-	NC_000006.12:g.15496592C>T	ExAC,gnomAD
rs752867259	p.Pro457Arg	missense variant	-	NC_000006.12:g.15496595C>G	ExAC,gnomAD
rs752867259	p.Pro457His	missense variant	-	NC_000006.12:g.15496595C>A	ExAC,gnomAD
rs758673747	p.Lys459Asn	missense variant	-	NC_000006.12:g.15496602G>T	ExAC,gnomAD
COSM4930489	p.Lys461Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15496606A>G	NCI-TCGA Cosmic
rs751969709	p.Ala463Val	missense variant	-	NC_000006.12:g.15496613C>T	ExAC,TOPMed,gnomAD
rs1355010269	p.Ala464Thr	missense variant	-	NC_000006.12:g.15496615G>A	TOPMed
rs985734904	p.Pro466Ser	missense variant	-	NC_000006.12:g.15496621C>T	TOPMed,gnomAD
rs985734904	p.Pro466Ala	missense variant	-	NC_000006.12:g.15496621C>G	TOPMed,gnomAD
rs757498583	p.Pro466Leu	missense variant	-	NC_000006.12:g.15496622C>T	ExAC,gnomAD
rs201589895	p.Ala467Thr	missense variant	-	NC_000006.12:g.15496624G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200762091	p.Glu468Lys	missense variant	-	NC_000006.12:g.15496627G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly469Val	missense variant	-	NC_000006.12:g.15496631G>T	NCI-TCGA
NCI-TCGA novel	p.Gly469Cys	missense variant	-	NC_000006.12:g.15496630G>T	NCI-TCGA
rs778254538	p.Pro470Leu	missense variant	-	NC_000006.12:g.15496634C>T	ExAC
rs1386381868	p.Pro470Thr	missense variant	-	NC_000006.12:g.15496633C>A	TOPMed
rs1414267703	p.Gly471Ser	missense variant	-	NC_000006.12:g.15496636G>A	gnomAD
rs540503361	p.Lys472Glu	missense variant	-	NC_000006.12:g.15496639A>G	1000Genomes
rs1365628678	p.Ala474Ser	missense variant	-	NC_000006.12:g.15496645G>T	TOPMed
rs1323113015	p.Ala474Val	missense variant	-	NC_000006.12:g.15496646C>T	gnomAD
rs1433977735	p.Pro475Ser	missense variant	-	NC_000006.12:g.15496648C>T	gnomAD
rs772912534	p.Pro475Leu	missense variant	-	NC_000006.12:g.15496649C>T	ExAC,TOPMed,gnomAD
rs1330588899	p.Glu477Gly	missense variant	-	NC_000006.12:g.15496655A>G	TOPMed,gnomAD
rs759363568	p.Glu477Lys	missense variant	-	NC_000006.12:g.15496654G>A	ExAC,gnomAD
rs759363568	p.Glu477Gln	missense variant	-	NC_000006.12:g.15496654G>C	ExAC,gnomAD
NCI-TCGA novel	p.Arg478Lys	missense variant	-	NC_000006.12:g.15496658G>A	NCI-TCGA
rs764274821	p.Gly479Cys	missense variant	-	NC_000006.12:g.15496660G>T	ExAC,gnomAD
rs1359265824	p.Leu480Pro	missense variant	-	NC_000006.12:g.15496664T>C	gnomAD
rs562946062	p.Asn482Lys	missense variant	-	NC_000006.12:g.15496671C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs562946062	p.Asn482Lys	missense variant	-	NC_000006.12:g.15496671C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1482979378	p.Asn482Ile	missense variant	-	NC_000006.12:g.15496670A>T	gnomAD
rs780593636	p.Gly483Arg	missense variant	-	NC_000006.12:g.15496672G>A	ExAC,TOPMed,gnomAD
rs780593636	p.Gly483Arg	missense variant	-	NC_000006.12:g.15496672G>C	ExAC,TOPMed,gnomAD
rs147755173	p.His484Gln	missense variant	-	NC_000006.12:g.15496677C>G	ESP,ExAC,gnomAD
rs1193726679	p.His484Arg	missense variant	-	NC_000006.12:g.15496676A>G	TOPMed
rs757833470	p.His484Tyr	missense variant	-	NC_000006.12:g.15496675C>T	ExAC,gnomAD
rs746629156	p.Val485Met	missense variant	-	NC_000006.12:g.15496678G>A	ExAC,gnomAD
NCI-TCGA novel	p.Lys486Arg	missense variant	-	NC_000006.12:g.15496682A>G	NCI-TCGA
rs142532617	p.Lys487Glu	missense variant	-	NC_000006.12:g.15496684A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1345467460	p.Glu488Lys	missense variant	-	NC_000006.12:g.15496687G>A	gnomAD
rs899441253	p.Val489Gly	missense variant	-	NC_000006.12:g.15496691T>G	gnomAD
rs199726755	p.Pro490Leu	missense variant	-	NC_000006.12:g.15496694C>T	ESP,ExAC,TOPMed,gnomAD
rs199726755	p.Pro490Arg	missense variant	-	NC_000006.12:g.15496694C>G	ESP,ExAC,TOPMed,gnomAD
rs775503677	p.Glu491Asp	missense variant	-	NC_000006.12:g.15496698G>T	ExAC,TOPMed,gnomAD
rs1351841609	p.Glu491Lys	missense variant	-	NC_000006.12:g.15496696G>A	TOPMed,gnomAD
rs775503677	p.Glu491Asp	missense variant	-	NC_000006.12:g.15496698G>C	ExAC,TOPMed,gnomAD
rs35474598	p.Arg492His	missense variant	-	NC_000006.12:g.15496700G>A	ESP,ExAC,TOPMed,gnomAD
rs150448457	p.Arg492Cys	missense variant	-	NC_000006.12:g.15496699C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1230397653	p.Glu495Lys	missense variant	-	NC_000006.12:g.15496708G>A	gnomAD
NCI-TCGA novel	p.Glu495Gln	missense variant	-	NC_000006.12:g.15496708G>C	NCI-TCGA
rs774603953	p.Arg496Lys	missense variant	-	NC_000006.12:g.15496712G>A	ExAC,gnomAD
rs761909518	p.Asn497Ser	missense variant	-	NC_000006.12:g.15496715A>G	ExAC,TOPMed,gnomAD
rs371985950	p.Arg498Leu	missense variant	-	NC_000006.12:g.15496718G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371504573	p.Arg498Gly	missense variant	-	NC_000006.12:g.15496717C>G	ExAC,gnomAD
rs371504573	p.Arg498Trp	missense variant	-	NC_000006.12:g.15496717C>T	ExAC,gnomAD
rs371985950	p.Arg498Gln	missense variant	-	NC_000006.12:g.15496718G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199694306	p.Pro499Arg	missense variant	-	NC_000006.12:g.15496721C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199694306	p.Pro499Leu	missense variant	-	NC_000006.12:g.15496721C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1473935768	p.Arg501Gln	missense variant	-	NC_000006.12:g.15496727G>A	TOPMed,gnomAD
rs755493741	p.Arg501Trp	missense variant	-	NC_000006.12:g.15496726C>T	ExAC,TOPMed,gnomAD
rs1473935768	p.Arg501Pro	missense variant	-	NC_000006.12:g.15496727G>C	TOPMed,gnomAD
rs1473935768	p.Arg501Leu	missense variant	-	NC_000006.12:g.15496727G>T	TOPMed,gnomAD
rs751134578	p.Ala502Val	missense variant	-	NC_000006.12:g.15496730C>T	ExAC,TOPMed,gnomAD
rs145823203	p.Thr503Met	missense variant	-	NC_000006.12:g.15496733C>T	ESP,ExAC,TOPMed,gnomAD
rs964892202	p.Ala504Gly	missense variant	-	NC_000006.12:g.15496736C>G	gnomAD
rs780967141	p.Ala504Thr	missense variant	-	NC_000006.12:g.15496735G>A	ExAC,gnomAD
rs556846414	p.Gly505Arg	missense variant	-	NC_000006.12:g.15496738G>A	ExAC,TOPMed,gnomAD
rs368841624	p.Thr508Met	missense variant	-	NC_000006.12:g.15496748C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1364960202	p.Thr508Ser	missense variant	-	NC_000006.12:g.15496747A>T	gnomAD
rs368841624	p.Thr508Arg	missense variant	-	NC_000006.12:g.15496748C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1340594714	p.Pro509Ala	missense variant	-	NC_000006.12:g.15496750C>G	gnomAD
rs1200381693	p.Pro509Leu	missense variant	-	NC_000006.12:g.15496751C>T	gnomAD
rs749198181	p.Gly510Asp	missense variant	-	NC_000006.12:g.15496754G>A	ExAC,gnomAD
rs768754068	p.Ala513Gly	missense variant	-	NC_000006.12:g.15496763C>G	ExAC,gnomAD
rs768754068	p.Ala513Val	missense variant	-	NC_000006.12:g.15496763C>T	ExAC,gnomAD
rs1260237835	p.His514Gln	missense variant	-	NC_000006.12:g.15496767T>G	TOPMed
rs567509795	p.Gly515Cys	missense variant	-	NC_000006.12:g.15496768G>T	1000Genomes,ExAC,gnomAD
rs567509795	p.Gly515Ser	missense variant	-	NC_000006.12:g.15496768G>A	1000Genomes,ExAC,gnomAD
rs1250844499	p.Lys516Arg	missense variant	-	NC_000006.12:g.15496772A>G	TOPMed,gnomAD
rs762009475	p.Ala517Val	missense variant	-	NC_000006.12:g.15496775C>T	ExAC,TOPMed,gnomAD
rs1247600962	p.Ala517Thr	missense variant	-	NC_000006.12:g.15496774G>A	gnomAD
rs149052289	p.Asp518Val	missense variant	-	NC_000006.12:g.15496778A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp518Gly	missense variant	-	NC_000006.12:g.15496778A>G	NCI-TCGA
rs760817551	p.Ser519Thr	missense variant	-	NC_000006.12:g.15496781G>C	ExAC,TOPMed,gnomAD
rs760817551	p.Ser519Asn	missense variant	-	NC_000006.12:g.15496781G>A	ExAC,TOPMed,gnomAD
rs760817551	p.Ser519Ile	missense variant	-	NC_000006.12:g.15496781G>T	ExAC,TOPMed,gnomAD
rs1415642129	p.Ala520Val	missense variant	-	NC_000006.12:g.15496784C>T	gnomAD
rs200722144	p.Ala520Ser	missense variant	-	NC_000006.12:g.15496783G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200722144	p.Ala520Thr	missense variant	-	NC_000006.12:g.15496783G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs866108564	p.Ser521Cys	missense variant	-	NC_000006.12:g.15496787C>G	-
rs756721673	p.Ser521Ala	missense variant	-	NC_000006.12:g.15496786T>G	ExAC,gnomAD
rs770567125	p.Cys522Gly	missense variant	-	NC_000006.12:g.15496789T>G	ExAC,TOPMed,gnomAD
rs770567125	p.Cys522Arg	missense variant	-	NC_000006.12:g.15496789T>C	ExAC,TOPMed,gnomAD
rs1327374697	p.Glu523Lys	missense variant	-	NC_000006.12:g.15496792G>A	gnomAD
rs768171157	p.Asn524Tyr	missense variant	-	NC_000006.12:g.15496795A>T	ExAC,gnomAD
rs373104387	p.Arg525Cys	missense variant	-	NC_000006.12:g.15496798C>T	ESP,ExAC,gnomAD
rs749143429	p.Arg525His	missense variant	-	NC_000006.12:g.15496799G>A	ExAC,gnomAD
rs778974432	p.Ser526Cys	missense variant	-	NC_000006.12:g.15496802C>G	ExAC,TOPMed,gnomAD
rs768700724	p.Ser526Pro	missense variant	-	NC_000006.12:g.15496801T>C	ExAC,gnomAD
NCI-TCGA novel	p.Thr527Ile	missense variant	-	NC_000006.12:g.15496805C>T	NCI-TCGA
rs748038024	p.Thr527Pro	missense variant	-	NC_000006.12:g.15496804A>C	ExAC,gnomAD
rs1210803593	p.Ser528Leu	missense variant	-	NC_000006.12:g.15496808C>T	gnomAD
rs369211390	p.Pro530Leu	missense variant	-	NC_000006.12:g.15496814C>T	ESP,ExAC,TOPMed,gnomAD
rs776971778	p.Ser532Thr	missense variant	-	NC_000006.12:g.15496819T>A	ExAC,gnomAD
rs776971778	p.Ser532Pro	missense variant	-	NC_000006.12:g.15496819T>C	ExAC,gnomAD
rs372890344	p.Val533Met	missense variant	-	NC_000006.12:g.15496822G>A	ESP,ExAC,TOPMed,gnomAD
rs763394577	p.His534Gln	missense variant	-	NC_000006.12:g.15496827C>A	ExAC,gnomAD
rs776009522	p.His534Leu	missense variant	-	NC_000006.12:g.15496826A>T	ExAC,gnomAD
rs776009522	p.His534Arg	missense variant	-	NC_000006.12:g.15496826A>G	ExAC,gnomAD
NCI-TCGA novel	p.His534Tyr	missense variant	-	NC_000006.12:g.15496825C>T	NCI-TCGA
rs1199538352	p.Pro536Ser	missense variant	-	NC_000006.12:g.15496831C>T	TOPMed
rs749941345	p.Pro536Leu	missense variant	-	NC_000006.12:g.15496832C>T	ExAC,TOPMed,gnomAD
rs755805284	p.Asp538Gly	missense variant	-	NC_000006.12:g.15496838A>G	ExAC,TOPMed,gnomAD
rs776159543	p.Ser539Leu	missense variant	-	NC_000006.12:g.15496841C>T	ExAC,TOPMed
rs1322179893	p.Lys541Arg	missense variant	-	NC_000006.12:g.15496847A>G	gnomAD
rs143082189	p.Ala542Thr	missense variant	-	NC_000006.12:g.15496849G>A	ESP,ExAC,TOPMed,gnomAD
rs778583499	p.Ala542Val	missense variant	-	NC_000006.12:g.15496850C>T	ExAC,gnomAD
rs758296303	p.Glu543Lys	missense variant	-	NC_000006.12:g.15496852G>A	ExAC,TOPMed,gnomAD
rs1230502778	p.Glu543Gly	missense variant	-	NC_000006.12:g.15496853A>G	TOPMed,gnomAD
rs1261486133	p.Lys544Asn	missense variant	-	NC_000006.12:g.15496857G>C	gnomAD
rs200762827	p.Gly546Ser	missense variant	-	NC_000006.12:g.15496861G>A	1000Genomes,TOPMed,gnomAD
rs1490837156	p.Gly547Asp	missense variant	-	NC_000006.12:g.15496865G>A	gnomAD
rs747154161	p.Gly547Cys	missense variant	-	NC_000006.12:g.15496864G>T	ExAC,TOPMed,gnomAD
rs747154161	p.Gly547Ser	missense variant	-	NC_000006.12:g.15496864G>A	ExAC,TOPMed,gnomAD
rs771140450	p.Ala549Ser	missense variant	-	NC_000006.12:g.15496870G>T	ExAC,gnomAD
rs746104955	p.Gly550Arg	missense variant	-	NC_000006.12:g.15496873G>A	ExAC,gnomAD
rs775748791	p.Trp551Gly	missense variant	-	NC_000006.12:g.15496876T>G	ExAC,gnomAD
rs1457722606	p.Ala552Pro	missense variant	-	NC_000006.12:g.15496879G>C	gnomAD
rs370158092	p.Ala552Val	missense variant	-	NC_000006.12:g.15496880C>T	ESP,ExAC,TOPMed,gnomAD
rs1457722606	p.Ala552Thr	missense variant	-	NC_000006.12:g.15496879G>A	gnomAD
rs1425918264	p.Ala553Ser	missense variant	-	NC_000006.12:g.15496882G>T	gnomAD
rs772765775	p.Met554Val	missense variant	-	NC_000006.12:g.15496885A>G	ExAC,TOPMed,gnomAD
rs765990652	p.Glu556Lys	missense variant	-	NC_000006.12:g.15496891G>A	ExAC
NCI-TCGA novel	p.Glu556Val	missense variant	-	NC_000006.12:g.15496892A>T	NCI-TCGA
rs1307988309	p.Pro558Ala	missense variant	-	NC_000006.12:g.15496897C>G	TOPMed,gnomAD
rs1307988309	p.Pro558Ser	missense variant	-	NC_000006.12:g.15496897C>T	TOPMed,gnomAD
rs753479975	p.Pro558Leu	missense variant	-	NC_000006.12:g.15496898C>T	ExAC,gnomAD
rs557857812	p.Val559Ile	missense variant	-	NC_000006.12:g.15496900G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs557857812	p.Val559Phe	missense variant	-	NC_000006.12:g.15496900G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1361293210	p.Leu560Phe	missense variant	-	NC_000006.12:g.15496903C>T	gnomAD
rs758346136	p.Arg561Ser	missense variant	-	NC_000006.12:g.15496908G>T	ExAC,gnomAD
rs752471157	p.Arg561Gly	missense variant	-	NC_000006.12:g.15496906A>G	ExAC,gnomAD
rs1178362050	p.Ser563Phe	missense variant	-	NC_000006.12:g.15496913C>T	gnomAD
rs757273269	p.Ala564Thr	missense variant	-	NC_000006.12:g.15496915G>A	ExAC,TOPMed,gnomAD
rs1168551308	p.Lys565Asn	missense variant	-	NC_000006.12:g.15496920G>T	gnomAD
rs769949038	p.Lys565Arg	missense variant	-	NC_000006.12:g.15496919A>G	ExAC,gnomAD
rs746052278	p.Lys565Glu	missense variant	-	NC_000006.12:g.15496918A>G	ExAC,gnomAD
rs1369179322	p.Glu566Gly	missense variant	-	NC_000006.12:g.15496922A>G	gnomAD
rs1286550085	p.Asp569Asn	missense variant	-	NC_000006.12:g.15496930G>A	TOPMed
rs1276257841	p.Ile572Leu	missense variant	-	NC_000006.12:g.15496939A>C	TOPMed
rs1315081738	p.Ile574Val	missense variant	-	NC_000006.12:g.15496945A>G	gnomAD
NCI-TCGA novel	p.Glu575Lys	missense variant	-	NC_000006.12:g.15496948G>A	NCI-TCGA
rs774930815	p.Ser576Leu	missense variant	-	NC_000006.12:g.15496952C>T	ExAC,TOPMed,gnomAD
rs1206517184	p.Arg578His	missense variant	-	NC_000006.12:g.15496958G>A	TOPMed,gnomAD
rs759192312	p.Arg578Cys	missense variant	-	NC_000006.12:g.15496957C>T	ExAC,TOPMed,gnomAD
rs752536884	p.Ala579Thr	missense variant	-	NC_000006.12:g.15496960G>A	ExAC,TOPMed,gnomAD
rs752536884	p.Ala579Ser	missense variant	-	NC_000006.12:g.15496960G>T	ExAC,TOPMed,gnomAD
rs1478462316	p.Gln580Arg	missense variant	-	NC_000006.12:g.15496964A>G	TOPMed
rs1244560840	p.Phe584Val	missense variant	-	NC_000006.12:g.15496975T>G	TOPMed,gnomAD
rs1462051464	p.Phe584Leu	missense variant	-	NC_000006.12:g.15496977C>G	TOPMed,gnomAD
rs1430877456	p.Pro591Arg	missense variant	-	NC_000006.12:g.15496997C>G	gnomAD
COSM3920950	p.Pro591Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15496997C>T	NCI-TCGA Cosmic
rs1377188510	p.Pro592Leu	missense variant	-	NC_000006.12:g.15497000C>T	gnomAD
COSM1441795	p.Pro592LeuPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.15496995C>-	NCI-TCGA Cosmic
rs1464566433	p.Pro593Thr	missense variant	-	NC_000006.12:g.15497002C>A	gnomAD
rs1338979330	p.Pro593Leu	missense variant	-	NC_000006.12:g.15497003C>T	TOPMed,gnomAD
rs1319707452	p.Arg596Leu	missense variant	-	NC_000006.12:g.15497012G>T	gnomAD
rs1319707452	p.Arg596Gln	missense variant	-	NC_000006.12:g.15497012G>A	gnomAD
rs781217563	p.Arg596Trp	missense variant	-	NC_000006.12:g.15497011C>T	ExAC,gnomAD
COSM1075248	p.Glu598Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15497017G>A	NCI-TCGA Cosmic
rs768843433	p.Glu604Asp	missense variant	-	NC_000006.12:g.15497037G>C	ExAC,gnomAD
rs749528510	p.Glu604Gln	missense variant	-	NC_000006.12:g.15497035G>C	ExAC,gnomAD
NCI-TCGA novel	p.Val608Ile	missense variant	-	NC_000006.12:g.15497047G>A	NCI-TCGA
rs1272628515	p.Thr609Met	missense variant	-	NC_000006.12:g.15497051C>T	TOPMed
rs1487041468	p.Gln612Ter	stop gained	-	NC_000006.12:g.15497059C>T	gnomAD
NCI-TCGA novel	p.His615Tyr	missense variant	-	NC_000006.12:g.15497068C>T	NCI-TCGA
rs966646702	p.Arg619Gln	missense variant	-	NC_000006.12:g.15497081G>A	TOPMed
rs1178603113	p.Trp621Ter	stop gained	-	NC_000006.12:g.15497088G>A	gnomAD
rs776254668	p.Gly622Asp	missense variant	-	NC_000006.12:g.15497090G>A	ExAC
rs1157174829	p.Arg627Trp	missense variant	-	NC_000006.12:g.15497104C>T	gnomAD
rs1343262221	p.Arg627Gln	missense variant	-	NC_000006.12:g.15497105G>A	gnomAD
rs200415904	p.Lys632Arg	missense variant	-	NC_000006.12:g.15497120A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1403016206	p.Leu635His	missense variant	-	NC_000006.12:g.15497129T>A	gnomAD
rs959156268	p.Ser637Thr	missense variant	-	NC_000006.12:g.15497134T>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gln638His	missense variant	-	NC_000006.12:g.15497139G>T	NCI-TCGA
rs990914006	p.Gly639Asp	missense variant	-	NC_000006.12:g.15497141G>A	TOPMed,gnomAD
rs751397993	p.Asp643Glu	missense variant	-	NC_000006.12:g.15497154C>G	ExAC,TOPMed,gnomAD
rs1260870626	p.Glu644Asp	missense variant	-	NC_000006.12:g.15497157G>C	TOPMed
rs1202321814	p.Leu655Val	missense variant	-	NC_000006.12:g.15500924C>G	TOPMed
NCI-TCGA novel	p.Ala656Ser	missense variant	-	NC_000006.12:g.15500927G>T	NCI-TCGA
rs1403355760	p.Cys657Trp	missense variant	-	NC_000006.12:g.15500932C>G	gnomAD
rs1437199477	p.Phe658Leu	missense variant	-	NC_000006.12:g.15500935T>A	TOPMed
rs1454236802	p.Phe658Leu	missense variant	-	NC_000006.12:g.15500933T>C	gnomAD
rs1273839023	p.Arg660Trp	missense variant	-	NC_000006.12:g.15500939C>T	TOPMed
rs1337884490	p.Arg660Gln	missense variant	-	NC_000006.12:g.15500940G>A	TOPMed,gnomAD
rs1272384842	p.Gly667Ser	missense variant	-	NC_000006.12:g.15500960G>A	gnomAD
NCI-TCGA novel	p.Gln669Ter	stop gained	-	NC_000006.12:g.15500966C>T	NCI-TCGA
rs375947654	p.Val671Met	missense variant	-	NC_000006.12:g.15500972G>A	ESP,TOPMed
COSM269404	p.Leu674Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15500981C>T	NCI-TCGA Cosmic
rs1012951178	p.Lys676Arg	missense variant	-	NC_000006.12:g.15500988A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Lys676Ter	stop gained	-	NC_000006.12:g.15500987A>T	NCI-TCGA
COSM1441796	p.Trp677MetPheSerTerUnkUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.15500983_15500984insA	NCI-TCGA Cosmic
rs1261511825	p.Asn678Lys	missense variant	-	NC_000006.12:g.15500995C>A	gnomAD
rs1442060400	p.Arg688Lys	missense variant	-	NC_000006.12:g.15501024G>A	TOPMed
COSM4925052	p.Arg688Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15501023A>G	NCI-TCGA Cosmic
rs1446189314	p.Thr689Ala	missense variant	-	NC_000006.12:g.15501026A>G	gnomAD
rs1270677152	p.Ala690Ser	missense variant	-	NC_000006.12:g.15501029G>T	gnomAD
COSM261476	p.Ala690Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15501030C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln691Glu	missense variant	-	NC_000006.12:g.15501032C>G	NCI-TCGA
COSM3859837	p.Arg693Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15501038C>T	NCI-TCGA Cosmic
COSM740323	p.Arg693Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15501039G>A	NCI-TCGA Cosmic
rs201645606	p.Ala695Gly	missense variant	-	NC_000006.12:g.15501045C>G	ExAC,gnomAD
rs771804802	p.Lys696Gln	missense variant	-	NC_000006.12:g.15501047A>C	ExAC
rs1426590590	p.Glu699Ala	missense variant	-	NC_000006.12:g.15501057A>C	gnomAD
rs1426590590	p.Glu699Gly	missense variant	-	NC_000006.12:g.15501057A>G	gnomAD
COSM3859839	p.Tyr704His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15501071T>C	NCI-TCGA Cosmic
rs776557232	p.Asp709Asn	missense variant	-	NC_000006.12:g.15501086G>A	ExAC,gnomAD
rs1281529122	p.Pro713Ala	missense variant	-	NC_000006.12:g.15501098C>G	gnomAD
NCI-TCGA novel	p.Glu714Asp	missense variant	-	NC_000006.12:g.15501103G>T	NCI-TCGA
NCI-TCGA novel	p.Glu714Lys	missense variant	-	NC_000006.12:g.15501101G>A	NCI-TCGA
rs369567122	p.Arg717Gln	missense variant	-	NC_000006.12:g.15501111G>A	ESP,ExAC,TOPMed,gnomAD
rs548954910	p.Arg717Trp	missense variant	-	NC_000006.12:g.15501110C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs764335143	p.Arg718Trp	missense variant	-	NC_000006.12:g.15501113C>T	ExAC,gnomAD
rs201880755	p.Arg718Gln	missense variant	-	NC_000006.12:g.15501114G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1266216429	p.Glu722Ala	missense variant	-	NC_000006.12:g.15501126A>C	gnomAD
rs781757019	p.Glu722Gln	missense variant	-	NC_000006.12:g.15501125G>C	ExAC,gnomAD
COSM6105810	p.Val723Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15501128G>C	NCI-TCGA Cosmic
rs1481106434	p.Met725Thr	missense variant	-	NC_000006.12:g.15501135T>C	gnomAD
COSM6105808	p.Glu726Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15501139G>T	NCI-TCGA Cosmic
rs1199736578	p.Lys727Glu	missense variant	-	NC_000006.12:g.15501140A>G	gnomAD
rs746377785	p.Arg733Cys	missense variant	-	NC_000006.12:g.15501158C>T	ExAC,TOPMed,gnomAD
rs200766229	p.Arg733His	missense variant	-	NC_000006.12:g.15501159G>A	ESP,ExAC,TOPMed,gnomAD
rs200766229	p.Arg733Leu	missense variant	-	NC_000006.12:g.15501159G>T	ESP,ExAC,TOPMed,gnomAD
rs747758924	p.Pro736Leu	missense variant	-	NC_000006.12:g.15501168C>T	ExAC,gnomAD
COSM3859842	p.Pro736Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15501167C>A	NCI-TCGA Cosmic
rs1318985876	p.Gly739Val	missense variant	-	NC_000006.12:g.15501177G>T	TOPMed
rs777404268	p.His740Tyr	missense variant	-	NC_000006.12:g.15501179C>T	ExAC,TOPMed,gnomAD
rs147485304	p.Thr741Ile	missense variant	-	NC_000006.12:g.15501183C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139860744	p.Glu742Gln	missense variant	-	NC_000006.12:g.15501185G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM6173110	p.Asn743Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15501189A>T	NCI-TCGA Cosmic
rs776577768	p.Asp744Glu	missense variant	-	NC_000006.12:g.15501193C>A	ExAC,gnomAD
rs142763537	p.Asp744Asn	missense variant	-	NC_000006.12:g.15501191G>A	1000Genomes,ESP,TOPMed,gnomAD
rs147344199	p.His745Gln	missense variant	-	NC_000006.12:g.15501196C>A	1000Genomes,ExAC,gnomAD
rs1241433724	p.His745Asn	missense variant	-	NC_000006.12:g.15501194C>A	TOPMed,gnomAD
rs1241433724	p.His745Tyr	missense variant	-	NC_000006.12:g.15501194C>T	TOPMed,gnomAD
rs1351105435	p.Lys747Gln	missense variant	-	NC_000006.12:g.15501200A>C	TOPMed,gnomAD
rs769959268	p.His749Gln	missense variant	-	NC_000006.12:g.15501208C>A	ExAC,gnomAD
rs979500439	p.Leu751Val	missense variant	-	NC_000006.12:g.15501212C>G	TOPMed
NCI-TCGA novel	p.Arg753Pro	missense variant	-	NC_000006.12:g.15501219G>C	NCI-TCGA
rs369351310	p.Arg753His	missense variant	-	NC_000006.12:g.15501219G>A	ESP,ExAC,TOPMed,gnomAD
rs148788707	p.Arg753Cys	missense variant	-	NC_000006.12:g.15501218C>T	ESP,ExAC,TOPMed,gnomAD
rs1417007497	p.Glu755Lys	missense variant	-	NC_000006.12:g.15501224G>A	gnomAD
rs762172293	p.Leu760Pro	missense variant	-	NC_000006.12:g.15501240T>C	ExAC,gnomAD
rs1364788178	p.Leu760Phe	missense variant	-	NC_000006.12:g.15501239C>T	gnomAD
NCI-TCGA novel	p.Ile761Met	missense variant	-	NC_000006.12:g.15501244C>G	NCI-TCGA
rs1395699550	p.His762Leu	missense variant	-	NC_000006.12:g.15501246A>T	TOPMed,gnomAD
rs372474171	p.Gly763Ser	missense variant	-	NC_000006.12:g.15501248G>A	ESP,TOPMed,gnomAD
rs372474171	p.Gly763Cys	missense variant	-	NC_000006.12:g.15501248G>T	ESP,TOPMed,gnomAD
rs756644508	p.Val764Met	missense variant	-	NC_000006.12:g.15501251G>A	ExAC,TOPMed,gnomAD
rs202079041	p.Ala765Val	missense variant	-	NC_000006.12:g.15501255C>T	1000Genomes,ExAC
rs1383677275	p.Ala765Thr	missense variant	-	NC_000006.12:g.15501254G>A	TOPMed,gnomAD
rs1394387722	p.Pro766His	missense variant	-	NC_000006.12:g.15501258C>A	TOPMed,gnomAD
rs752249423	p.Arg767Gly	missense variant	-	NC_000006.12:g.15501260A>G	ExAC,gnomAD
rs201528583	p.Asn768Ser	missense variant	-	NC_000006.12:g.15501264A>G	1000Genomes
rs777546707	p.Gly769Ser	missense variant	-	NC_000006.12:g.15501266G>A	ExAC,TOPMed,gnomAD
rs1044393903	p.Phe770Ile	missense variant	-	NC_000006.12:g.15501269T>A	TOPMed
rs770714139	p.Arg771His	missense variant	-	NC_000006.12:g.15501273G>A	ExAC,TOPMed,gnomAD
rs199645405	p.Arg771Cys	missense variant	-	NC_000006.12:g.15501272C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs780882768	p.Ser772Cys	missense variant	-	NC_000006.12:g.15501275A>T	ExAC,gnomAD
rs1250308213	p.Ser772Asn	missense variant	-	NC_000006.12:g.15501276G>A	gnomAD
rs745772893	p.Ser772Arg	missense variant	-	NC_000006.12:g.15501277C>G	ExAC,gnomAD
rs1286741870	p.Lys773Glu	missense variant	-	NC_000006.12:g.15501278A>G	TOPMed
rs1197207314	p.Glu776Asp	missense variant	-	NC_000006.12:g.15501289G>T	TOPMed,gnomAD
rs201374020	p.Gln779Arg	missense variant	-	NC_000006.12:g.15501297A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs561317616	p.Leu782Phe	missense variant	-	NC_000006.12:g.15501307G>T	ExAC,TOPMed,gnomAD
rs763193583	p.Thr784Ser	missense variant	-	NC_000006.12:g.15501312C>G	ExAC,TOPMed,gnomAD
rs768624592	p.Gly785Ser	missense variant	-	NC_000006.12:g.15501314G>A	ExAC,gnomAD
rs774574181	p.Arg786Trp	missense variant	-	NC_000006.12:g.15501317C>T	ExAC,gnomAD
rs1371432770	p.Arg786Gln	missense variant	-	NC_000006.12:g.15501318G>A	gnomAD
rs774574181	p.Arg786Gly	missense variant	-	NC_000006.12:g.15501317C>G	ExAC,gnomAD
rs767882501	p.Arg787Gln	missense variant	-	NC_000006.12:g.15501321G>A	ExAC,TOPMed,gnomAD
rs761961082	p.Arg787Trp	missense variant	-	NC_000006.12:g.15501320C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg788Ter	stop gained	-	NC_000006.12:g.15501323C>T	NCI-TCGA
rs879661038	p.Arg788Gln	missense variant	-	NC_000006.12:g.15501324G>A	TOPMed,gnomAD
rs1334524016	p.Phe790Leu	missense variant	-	NC_000006.12:g.15501331C>G	gnomAD
NCI-TCGA novel	p.Phe790LeuPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.15501331C>-	NCI-TCGA
rs761144319	p.Ala791Val	missense variant	-	NC_000006.12:g.15501333C>T	ExAC,gnomAD
rs887454371	p.Ala791Thr	missense variant	-	NC_000006.12:g.15501332G>A	TOPMed,gnomAD
rs752196185	p.Glu793Ala	missense variant	-	NC_000006.12:g.15501339A>C	ExAC,gnomAD
rs777172906	p.Lys794Glu	missense variant	-	NC_000006.12:g.15501341A>G	ExAC,TOPMed,gnomAD
rs777172906	p.Lys794Gln	missense variant	-	NC_000006.12:g.15501341A>C	ExAC,TOPMed,gnomAD
rs756904768	p.Val796Ala	missense variant	-	NC_000006.12:g.15501348T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu799ArgPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.15501353_15501356AAGG>-	NCI-TCGA
rs781115380	p.Glu800Gly	missense variant	-	NC_000006.12:g.15501360A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu800Asp	missense variant	-	NC_000006.12:g.15501361G>T	NCI-TCGA
NCI-TCGA novel	p.Glu800Asp	missense variant	-	NC_000006.12:g.15501361G>C	NCI-TCGA
rs1260179972	p.Glu801Asp	missense variant	-	NC_000006.12:g.15501364G>C	gnomAD
rs745715868	p.Glu801Lys	missense variant	-	NC_000006.12:g.15501362G>A	ExAC,gnomAD
rs756117380	p.Glu802Lys	missense variant	-	NC_000006.12:g.15501365G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp803Asn	missense variant	-	NC_000006.12:g.15501368G>A	NCI-TCGA
rs1308726993	p.Asp803Glu	missense variant	-	NC_000006.12:g.15501370C>A	TOPMed
rs780072251	p.Lys804Arg	missense variant	-	NC_000006.12:g.15501372A>G	ExAC,gnomAD
rs371497185	p.Val806Ile	missense variant	-	NC_000006.12:g.15501377G>A	ESP,ExAC,TOPMed,gnomAD
rs533461130	p.Asn808Ser	missense variant	-	NC_000006.12:g.15501384A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs533461130	p.Asn808Ile	missense variant	-	NC_000006.12:g.15501384A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs748370376	p.Asn808Lys	missense variant	-	NC_000006.12:g.15501385T>G	ExAC,gnomAD
NCI-TCGA novel	p.Phe810Leu	missense variant	-	NC_000006.12:g.15501391C>A	NCI-TCGA
COSM3622179	p.His811Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15501392C>T	NCI-TCGA Cosmic
rs773548877	p.Lys812Gln	missense variant	-	NC_000006.12:g.15501395A>C	ExAC,gnomAD
rs765922245	p.Lys816AsnTerSerAsnSerLeuLysSerThrProAlaAspUnk	stop gained	-	NC_000006.12:g.15501408_15501409insTTGAAGTAATAGCCTAAAATCCACCCCAGCAGAT	ExAC
NCI-TCGA novel	p.Leu822Pro	missense variant	-	NC_000006.12:g.15504516T>C	NCI-TCGA
NCI-TCGA novel	p.Thr824Ile	inframe deletion	-	NC_000006.12:g.15504522_15504524CTT>-	NCI-TCGA
NCI-TCGA novel	p.Tyr826LeuPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.15504522_15504523insT	NCI-TCGA
rs1224740913	p.Ala829Val	missense variant	-	NC_000006.12:g.15504537C>T	gnomAD
rs755860869	p.Met833Ile	missense variant	-	NC_000006.12:g.15504550G>A	ExAC,gnomAD
rs375843450	p.Cys836Arg	missense variant	-	NC_000006.12:g.15504557T>C	ESP,TOPMed,gnomAD
COSM290061	p.Cys836Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15504558G>C	NCI-TCGA Cosmic
rs1159188467	p.Ser838Ile	missense variant	-	NC_000006.12:g.15504564G>T	gnomAD
rs183236794	p.Ala842Thr	missense variant	-	NC_000006.12:g.15504575G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM3410719	p.Ala842Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15504575G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro843Ala	missense variant	-	NC_000006.12:g.15504578C>G	NCI-TCGA
rs367950791	p.Pro843Leu	missense variant	-	NC_000006.12:g.15504579C>T	ESP,TOPMed,gnomAD
rs1428494670	p.Ala844Pro	missense variant	-	NC_000006.12:g.15504581G>C	TOPMed
rs754929108	p.Glu845Lys	missense variant	-	NC_000006.12:g.15504584G>A	ExAC,TOPMed,gnomAD
rs1441090739	p.Ile846Val	missense variant	-	NC_000006.12:g.15504587A>G	gnomAD
NCI-TCGA novel	p.Glu847Lys	missense variant	-	NC_000006.12:g.15504590G>A	NCI-TCGA
rs1158562311	p.Asp858Glu	missense variant	-	NC_000006.12:g.15507168C>A	TOPMed
NCI-TCGA novel	p.Cys859Ter	stop gained	-	NC_000006.12:g.15507171C>A	NCI-TCGA
COSM4847368	p.His864Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15507186C>G	NCI-TCGA Cosmic
rs752539694	p.Gly874Asp	missense variant	-	NC_000006.12:g.15507215G>A	ExAC,gnomAD
rs1335468434	p.Gly876Val	missense variant	-	NC_000006.12:g.15507221G>T	gnomAD
NCI-TCGA novel	p.Pro878Ser	missense variant	-	NC_000006.12:g.15507226C>T	NCI-TCGA
rs1272040051	p.Pro884Arg	missense variant	-	NC_000006.12:g.15507245C>G	gnomAD
NCI-TCGA novel	p.Ser886PhePheSerTerUnkUnk	frameshift	-	NC_000006.12:g.15507246_15507247insT	NCI-TCGA
COSM1075252	p.Ser886Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15507251C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu892Phe	missense variant	-	NC_000006.12:g.15507359C>T	NCI-TCGA
rs1281939254	p.Thr893Ser	missense variant	-	NC_000006.12:g.15507363C>G	TOPMed
rs755332982	p.Asn897Ser	missense variant	-	NC_000006.12:g.15507375A>G	ExAC,gnomAD
COSM4933336	p.Leu903Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15507393T>A	NCI-TCGA Cosmic
rs571642301	p.Arg904His	missense variant	-	NC_000006.12:g.15507396G>A	1000Genomes,ExAC,gnomAD
rs780557443	p.Pro910Ser	missense variant	-	NC_000006.12:g.15507413C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro910ValPheSerTerUnk	stop gained	-	NC_000006.12:g.15507411_15507412insAGTTTATTATCCATGATGCGCAA	NCI-TCGA
rs779574524	p.Ile914Val	missense variant	-	NC_000006.12:g.15508348A>G	ExAC,TOPMed,gnomAD
rs1393357769	p.Asn918Asp	missense variant	-	NC_000006.12:g.15508360A>G	gnomAD
COSM1075254	p.Phe923Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15508376T>C	NCI-TCGA Cosmic
rs768349280	p.Ser929Ala	missense variant	-	NC_000006.12:g.15508393T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg930Gly	missense variant	-	NC_000006.12:g.15508396C>G	NCI-TCGA
NCI-TCGA novel	p.Arg930Gln	missense variant	-	NC_000006.12:g.15508397G>A	NCI-TCGA
rs778663000	p.His934Leu	missense variant	-	NC_000006.12:g.15508409A>T	ExAC,gnomAD
NCI-TCGA novel	p.His934ThrPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.15508408C>-	NCI-TCGA
rs771764442	p.Ile938Val	missense variant	-	NC_000006.12:g.15508420A>G	ExAC,gnomAD
rs1427775473	p.Thr943Ala	missense variant	-	NC_000006.12:g.15508435A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ile948Met	missense variant	-	NC_000006.12:g.15508452T>G	NCI-TCGA
COSM3622182	p.Glu956Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15511315G>A	NCI-TCGA Cosmic
rs1284894640	p.Asn958His	missense variant	-	NC_000006.12:g.15511321A>C	gnomAD
rs1361302063	p.Asn958Lys	missense variant	-	NC_000006.12:g.15511323C>G	gnomAD
COSM4839643	p.Asn958Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15511322A>G	NCI-TCGA Cosmic
COSM3622183	p.Glu961Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15511330G>A	NCI-TCGA Cosmic
COSM6173107	p.Asp962Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15511333G>A	NCI-TCGA Cosmic
rs1470266847	p.Val963Met	missense variant	-	NC_000006.12:g.15511336G>A	TOPMed
rs768821228	p.Thr966Ala	missense variant	-	NC_000006.12:g.15511345A>G	ExAC,gnomAD
rs1277655127	p.Thr966Ile	missense variant	-	NC_000006.12:g.15511346C>T	gnomAD
rs200466167	p.Leu967Val	missense variant	-	NC_000006.12:g.15511348C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs767877427	p.Leu968Pro	missense variant	-	NC_000006.12:g.15511352T>C	ExAC,gnomAD
rs773656923	p.Asn971Ser	missense variant	-	NC_000006.12:g.15511361A>G	ExAC,TOPMed,gnomAD
rs761201486	p.Pro974Ser	missense variant	-	NC_000006.12:g.15511369C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro974GlnPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.15511367C>-	NCI-TCGA
rs1176242286	p.Gln977Arg	missense variant	-	NC_000006.12:g.15511379A>G	gnomAD
rs373805765	p.Met978Ile	missense variant	-	NC_000006.12:g.15511383G>T	ESP,ExAC,TOPMed,gnomAD
rs373805765	p.Met978Ile	missense variant	-	NC_000006.12:g.15511383G>A	ESP,ExAC,TOPMed,gnomAD
rs758053761	p.Ser981Asn	missense variant	-	NC_000006.12:g.15511391G>A	ExAC,gnomAD
rs368584148	p.Asn982Lys	missense variant	-	NC_000006.12:g.15511395C>A	ESP,ExAC,TOPMed,gnomAD
rs751270951	p.Val983Ile	missense variant	-	NC_000006.12:g.15511396G>A	ExAC,TOPMed,gnomAD
rs751270951	p.Val983Phe	missense variant	-	NC_000006.12:g.15511396G>T	ExAC,TOPMed,gnomAD
COSM71233	p.Ser986Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15512212C>A	NCI-TCGA Cosmic
rs1212878571	p.Glu988Lys	missense variant	-	NC_000006.12:g.15512217G>A	gnomAD
rs778992015	p.Cys991Gly	missense variant	-	NC_000006.12:g.15512226T>G	ExAC,gnomAD
rs778992015	p.Cys991Arg	missense variant	-	NC_000006.12:g.15512226T>C	ExAC,gnomAD
rs748338100	p.Lys992Glu	missense variant	-	NC_000006.12:g.15512229A>G	ExAC,TOPMed,gnomAD
rs552024557	p.Lys992Asn	missense variant	-	NC_000006.12:g.15512231A>C	1000Genomes,ExAC
NCI-TCGA novel	p.Glu993Gln	missense variant	-	NC_000006.12:g.15512232G>C	NCI-TCGA
rs781494356	p.Lys996Arg	missense variant	-	NC_000006.12:g.15512242A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys996Asn	missense variant	-	NC_000006.12:g.15512243G>T	NCI-TCGA
NCI-TCGA novel	p.Lys996Glu	missense variant	-	NC_000006.12:g.15512241A>G	NCI-TCGA
COSM4414674	p.Val997Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15512245T>C	NCI-TCGA Cosmic
rs776956236	p.His998Gln	missense variant	-	NC_000006.12:g.15512249C>G	ExAC,gnomAD
rs1406165348	p.His998Tyr	missense variant	-	NC_000006.12:g.15512247C>T	gnomAD
COSM269405	p.His998Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15512248A>G	NCI-TCGA Cosmic
COSM3777256	p.Arg999Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15512252G>C	NCI-TCGA Cosmic
rs140223161	p.Val1001Met	missense variant	-	NC_000006.12:g.15512256G>A	ESP,ExAC,TOPMed,gnomAD
COSM3859851	p.Gln1003Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15512262C>A	NCI-TCGA Cosmic
rs940675594	p.Val1009Ile	missense variant	-	NC_000006.12:g.15512280G>A	gnomAD
rs1210044582	p.Cys1010Ser	missense variant	-	NC_000006.12:g.15512284G>C	gnomAD
COSM1075260	p.Ser1014Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15512296C>T	NCI-TCGA Cosmic
rs760326231	p.Ser1017Cys	missense variant	-	NC_000006.12:g.15512305C>G	ExAC,gnomAD
rs1047634222	p.Lys1018Arg	missense variant	-	NC_000006.12:g.15512308A>G	TOPMed
COSM3697623	p.Lys1018Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15512308A>T	NCI-TCGA Cosmic
COSM1075261	p.Cys1020Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15512314G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1022Trp	missense variant	-	NC_000006.12:g.15512319G>T	NCI-TCGA
rs754979948	p.Ser1024Asn	missense variant	-	NC_000006.12:g.15512326G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly1040Val	missense variant	-	NC_000006.12:g.15512374G>T	NCI-TCGA
rs747279162	p.Phe1041Cys	missense variant	-	NC_000006.12:g.15512377T>G	ExAC,gnomAD
rs757523906	p.Glu1042Gln	missense variant	-	NC_000006.12:g.15512379G>C	ExAC,gnomAD
rs1005739215	p.Arg1049Cys	missense variant	-	NC_000006.12:g.15512924C>T	-
rs1231706914	p.Arg1049His	missense variant	-	NC_000006.12:g.15512925G>A	gnomAD
NCI-TCGA novel	p.Arg1049Leu	missense variant	-	NC_000006.12:g.15512925G>T	NCI-TCGA
rs1435449618	p.Arg1050Gly	missense variant	-	NC_000006.12:g.15512927C>G	TOPMed
COSM4352288	p.Arg1050His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15512928G>A	NCI-TCGA Cosmic
rs148235578	p.His1051Arg	missense variant	-	NC_000006.12:g.15512931A>G	ESP,ExAC,TOPMed,gnomAD
rs772814855	p.Ile1052Val	missense variant	-	NC_000006.12:g.15512933A>G	ExAC,gnomAD
rs1211292490	p.Ala1053Val	missense variant	-	NC_000006.12:g.15512937C>T	TOPMed
COSM3859854	p.Met1058Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15512951A>G	NCI-TCGA Cosmic
rs776286519	p.Ile1065Thr	missense variant	-	NC_000006.12:g.15512973T>C	ExAC,gnomAD
rs759257891	p.Ala1070Glu	missense variant	-	NC_000006.12:g.15512988C>A	ExAC,gnomAD
rs759257891	p.Ala1070Gly	missense variant	-	NC_000006.12:g.15512988C>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys1071Glu	missense variant	-	NC_000006.12:g.15512990A>G	NCI-TCGA
rs775367617	p.Glu1073Lys	missense variant	-	NC_000006.12:g.15512996G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu1073LysPheSerTerUnkUnkUnk	frameshift	-	NC_000006.12:g.15512989A>-	NCI-TCGA
NCI-TCGA novel	p.Glu1073ArgPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.15512988_15512989insA	NCI-TCGA
rs764058660	p.Gly1075Ser	missense variant	-	NC_000006.12:g.15513002G>A	ExAC,TOPMed,gnomAD
rs1044917304	p.Pro1076Ala	missense variant	-	NC_000006.12:g.15513005C>G	TOPMed
COSM3697624	p.Pro1076Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15513006C>G	NCI-TCGA Cosmic
rs1303856450	p.Thr1077Ala	missense variant	-	NC_000006.12:g.15513008A>G	gnomAD
rs757419279	p.Thr1080Ala	missense variant	-	NC_000006.12:g.15513017A>G	ExAC
NCI-TCGA novel	p.Ser1082Ter	frameshift	-	NC_000006.12:g.15513024C>-	NCI-TCGA
rs1233830978	p.Ala1083Ser	missense variant	-	NC_000006.12:g.15513026G>T	TOPMed
rs756501710	p.Glu1087Gln	missense variant	-	NC_000006.12:g.15513038G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu1087Ter	stop gained	-	NC_000006.12:g.15513038G>T	NCI-TCGA
rs780593987	p.Leu1088Phe	missense variant	-	NC_000006.12:g.15513041C>T	ExAC,gnomAD
rs1294061056	p.Asp1090His	missense variant	-	NC_000006.12:g.15513240G>C	gnomAD
rs1294061056	p.Asp1090Asn	missense variant	-	NC_000006.12:g.15513240G>A	gnomAD
rs1335249629	p.Thr1091Ala	missense variant	-	NC_000006.12:g.15513243A>G	gnomAD
rs769494517	p.Glu1092Asp	missense variant	-	NC_000006.12:g.15513248G>T	ExAC,gnomAD
rs201376199	p.Arg1094Gln	missense variant	-	NC_000006.12:g.15513253G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs749020539	p.Arg1094Trp	missense variant	-	NC_000006.12:g.15513252C>T	ExAC,TOPMed,gnomAD
rs761691043	p.Arg1096Gly	missense variant	-	NC_000006.12:g.15513258C>G	ExAC,gnomAD
rs772155471	p.Arg1096His	missense variant	-	NC_000006.12:g.15513259G>A	ExAC,TOPMed,gnomAD
rs1169031214	p.Arg1097Trp	missense variant	-	NC_000006.12:g.15513261A>T	gnomAD
rs1426198397	p.Leu1099Pro	missense variant	-	NC_000006.12:g.15513268T>C	gnomAD
rs1450226818	p.His1105Arg	missense variant	-	NC_000006.12:g.15513286A>G	gnomAD
rs1313544698	p.His1105Gln	missense variant	-	NC_000006.12:g.15513287C>G	TOPMed,gnomAD
rs759887578	p.Ser1107Pro	missense variant	-	NC_000006.12:g.15513291T>C	ExAC,gnomAD
rs753217768	p.Ala1108Thr	missense variant	-	NC_000006.12:g.15513294G>A	ExAC,TOPMed,gnomAD
rs753217768	p.Ala1108Ser	missense variant	-	NC_000006.12:g.15513294G>T	ExAC,TOPMed,gnomAD
rs200784767	p.His1113Gln	missense variant	-	NC_000006.12:g.15513311C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs200784767	p.His1113Gln	missense variant	-	NC_000006.12:g.15513311C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs748965701	p.Asp1114Ala	missense variant	-	NC_000006.12:g.15513313A>C	ExAC,gnomAD
rs779627462	p.Asp1114Asn	missense variant	-	NC_000006.12:g.15513312G>A	ExAC,gnomAD
rs779627462	p.Asp1114His	missense variant	-	NC_000006.12:g.15513312G>C	ExAC,gnomAD
rs1475906919	p.Gly1115Ser	missense variant	-	NC_000006.12:g.15513315G>A	gnomAD
rs747737333	p.Thr1118Met	missense variant	-	NC_000006.12:g.15513325C>T	ExAC,gnomAD
rs1353368639	p.Val1119Met	missense variant	-	NC_000006.12:g.15513327G>A	TOPMed
rs755051913	p.Ala1120Glu	missense variant	-	NC_000006.12:g.15513331C>A	ExAC,TOPMed,gnomAD
rs755051913	p.Ala1120Val	missense variant	-	NC_000006.12:g.15513331C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1120Ser	missense variant	-	NC_000006.12:g.15513330G>T	NCI-TCGA
COSM1075268	p.Ala1120Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15513330G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp1121Asn	missense variant	-	NC_000006.12:g.15513333G>A	NCI-TCGA
rs201950093	p.Gly1122Arg	missense variant	-	NC_000006.12:g.15513336G>A	ExAC,TOPMed,gnomAD
rs1394550939	p.Lys1123Glu	missense variant	-	NC_000006.12:g.15513339A>G	gnomAD
rs1413964373	p.Lys1125Arg	missense variant	-	NC_000006.12:g.15513346A>G	TOPMed
COSM3622185	p.Pro1126Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15513349C>T	NCI-TCGA Cosmic
rs143923450	p.Arg1127Gln	missense variant	-	NC_000006.12:g.15513352G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1127Ter	stop gained	-	NC_000006.12:g.15513351C>T	NCI-TCGA
rs373281961	p.Trp1129Cys	missense variant	-	NC_000006.12:g.15513359G>T	ESP,TOPMed,gnomAD
rs765613492	p.Gln1131Pro	missense variant	-	NC_000006.12:g.15513364A>C	ExAC,gnomAD
rs1317315542	p.Glu1133Gln	missense variant	-	NC_000006.12:g.15513369G>C	gnomAD
rs377162599	p.Thr1134Met	missense variant	-	NC_000006.12:g.15513373C>T	ESP,ExAC,gnomAD
rs1214007093	p.Glu1136Lys	missense variant	-	NC_000006.12:g.15513378G>A	gnomAD
rs1447202688	p.Cys1139Tyr	missense variant	-	NC_000006.12:g.15513388G>A	gnomAD
rs1316410441	p.Glu1156Lys	missense variant	-	NC_000006.12:g.15517176G>A	TOPMed,gnomAD
rs1316410441	p.Glu1156Lys	missense variant	-	NC_000006.12:g.15517176G>A	NCI-TCGA Cosmic
rs757124632	p.Val1158Ile	missense variant	-	NC_000006.12:g.15517182G>A	ExAC,TOPMed,gnomAD
rs374387713	p.Arg1167His	missense variant	-	NC_000006.12:g.15517210G>A	ESP,ExAC,TOPMed,gnomAD
rs756110242	p.Arg1167Cys	missense variant	-	NC_000006.12:g.15517209C>T	ExAC,TOPMed,gnomAD
rs749493476	p.His1168Asn	missense variant	-	NC_000006.12:g.15517212C>A	ExAC,gnomAD
COSM740316	p.Val1169Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15517215G>C	NCI-TCGA Cosmic
rs1379068404	p.Lys1173Asn	missense variant	-	NC_000006.12:g.15517229G>C	TOPMed
rs367941514	p.Arg1176Leu	missense variant	-	NC_000006.12:g.15517237G>T	ESP,ExAC,TOPMed,gnomAD
rs367941514	p.Arg1176Gln	missense variant	-	NC_000006.12:g.15517237G>A	ESP,ExAC,TOPMed,gnomAD
rs779240039	p.Arg1176Ter	stop gained	-	NC_000006.12:g.15517236C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu1180Phe	missense variant	-	NC_000006.12:g.15517250G>C	NCI-TCGA
rs148559500	p.Tyr1184Ter	stop gained	-	NC_000006.12:g.15517262C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775113990	p.Asp1185His	missense variant	-	NC_000006.12:g.15517263G>C	ExAC,TOPMed,gnomAD
rs775113990	p.Asp1185Asn	missense variant	-	NC_000006.12:g.15517263G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1185Glu	missense variant	-	NC_000006.12:g.15517265T>G	NCI-TCGA
rs1420526352	p.Gln1188His	missense variant	-	NC_000006.12:g.15520074G>C	gnomAD
NCI-TCGA novel	p.Ile1189Asn	missense variant	-	NC_000006.12:g.15520076T>A	NCI-TCGA
rs752884763	p.Ser1191Thr	missense variant	-	NC_000006.12:g.15520082G>C	ExAC,gnomAD
NCI-TCGA novel	p.Val1193Ile	missense variant	-	NC_000006.12:g.15520087G>A	NCI-TCGA
rs758694722	p.Asn1194Ser	missense variant	-	NC_000006.12:g.15520091A>G	ExAC,TOPMed,gnomAD
rs779111412	p.Cys1197Tyr	missense variant	-	NC_000006.12:g.15520100G>A	TOPMed,gnomAD
rs1224543280	p.Gly1198Ser	missense variant	-	NC_000006.12:g.15520102G>A	TOPMed,gnomAD
rs554779374	p.Val1200Glu	missense variant	-	NC_000006.12:g.15520109T>A	1000Genomes,TOPMed
rs781746664	p.Val1200Met	missense variant	-	NC_000006.12:g.15520108G>A	ExAC,gnomAD
rs554779374	p.Val1200Ala	missense variant	-	NC_000006.12:g.15520109T>C	1000Genomes,TOPMed
rs929564203	p.Ser1201Ala	missense variant	-	NC_000006.12:g.15520111T>G	TOPMed,gnomAD
rs768251933	p.Gly1202Ala	missense variant	-	NC_000006.12:g.15520115G>C	ExAC,TOPMed,gnomAD
rs746409755	p.Gly1202Ser	missense variant	-	NC_000006.12:g.15520114G>A	ExAC,TOPMed,gnomAD
rs774055865	p.Lys1203Arg	missense variant	-	NC_000006.12:g.15520118A>G	ExAC,gnomAD
rs747745522	p.Asn1204Thr	missense variant	-	NC_000006.12:g.15520121A>C	ExAC,gnomAD
rs1177261309	p.Glu1208Asp	missense variant	-	NC_000006.12:g.15520134G>C	gnomAD
rs772740335	p.Asn1209Ser	missense variant	-	NC_000006.12:g.15520136A>G	ExAC,gnomAD
rs760457741	p.Cys1210Ser	missense variant	-	NC_000006.12:g.15520139G>C	ExAC,gnomAD
rs200753446	p.Pro1214Arg	missense variant	-	NC_000006.12:g.15520151C>G	ESP,ExAC,TOPMed,gnomAD
rs1465586269	p.Pro1216Gln	missense variant	-	NC_000006.12:g.15520157C>A	gnomAD
rs759507252	p.Lys1217Glu	missense variant	-	NC_000006.12:g.15520159A>G	ExAC,gnomAD
rs1356371529	p.Lys1217Arg	missense variant	-	NC_000006.12:g.15520160A>G	gnomAD
rs1339458581	p.Arg1218Ser	missense variant	-	NC_000006.12:g.15520164A>T	TOPMed
rs1187499308	p.Gly1219Val	missense variant	-	NC_000006.12:g.15520166G>T	gnomAD
rs763081488	p.Arg1221His	missense variant	-	NC_000006.12:g.15520172G>A	ExAC,TOPMed,gnomAD
rs373598286	p.Arg1221Gly	missense variant	-	NC_000006.12:g.15520171C>G	ESP,ExAC,TOPMed,gnomAD
rs763081488	p.Arg1221Pro	missense variant	-	NC_000006.12:g.15520172G>C	ExAC,TOPMed,gnomAD
rs373598286	p.Arg1221Cys	missense variant	-	NC_000006.12:g.15520171C>T	ESP,ExAC,TOPMed,gnomAD
rs375627312	p.Lys1222Glu	missense variant	-	NC_000006.12:g.15520174A>G	ESP,ExAC,TOPMed,gnomAD
rs146690879	p.Arg1223Thr	missense variant	-	NC_000006.12:g.15520178G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs899578639	p.Arg1223Ser	missense variant	-	NC_000006.12:g.15520179A>C	TOPMed
rs769367991	p.Ala1224Val	missense variant	-	NC_000006.12:g.15520181C>T	ExAC,TOPMed,gnomAD
rs1270867464	p.Val1226Leu	missense variant	-	NC_000006.12:g.15520186G>C	gnomAD
rs1418856907	p.Asp1227Tyr	missense variant	-	NC_000006.12:g.15520189G>T	TOPMed
rs902826504	p.Asp1227Gly	missense variant	-	NC_000006.12:g.15520190A>G	TOPMed
rs144053937	p.Val1228Met	missense variant	-	NC_000006.12:g.15520192G>A	ESP,ExAC,TOPMed,gnomAD
rs1205823454	p.Pro1229Thr	missense variant	-	NC_000006.12:g.15520195C>A	TOPMed
rs553561960	p.Pro1230His	missense variant	-	NC_000006.12:g.15520199C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs186488359	p.Pro1230Thr	missense variant	-	NC_000006.12:g.15520198C>A	1000Genomes,TOPMed
rs553561960	p.Pro1230Leu	missense variant	-	NC_000006.12:g.15520199C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs553561960	p.Pro1230Arg	missense variant	-	NC_000006.12:g.15520199C>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM3859866	p.Pro1230Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15520198C>T	NCI-TCGA Cosmic
rs148364412	p.Ser1231Cys	missense variant	-	NC_000006.12:g.15520202C>G	1000Genomes,ExAC,gnomAD
rs199675014	p.Arg1232Cys	missense variant	-	NC_000006.12:g.15520204C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1477665046	p.Leu1233Pro	missense variant	-	NC_000006.12:g.15520208T>C	gnomAD
rs1185133282	p.Ala1235Thr	missense variant	-	NC_000006.12:g.15520213G>A	gnomAD
rs1410990224	p.Ser1236Phe	missense variant	-	NC_000006.12:g.15520217C>T	gnomAD
rs759455782	p.Ser1238Ter	stop gained	-	NC_000006.12:g.15520223C>A	ExAC,gnomAD
rs759455782	p.Ser1238Leu	missense variant	-	NC_000006.12:g.15520223C>T	ExAC,gnomAD
rs146408706	p.Ser1239Phe	missense variant	-	NC_000006.12:g.15520226C>T	ESP,ExAC,TOPMed,gnomAD
rs146408706	p.Ser1239Cys	missense variant	-	NC_000006.12:g.15520226C>G	ESP,ExAC,TOPMed,gnomAD
rs146408706	p.Ser1239Tyr	missense variant	-	NC_000006.12:g.15520226C>A	ESP,ExAC,TOPMed,gnomAD
rs751776983	p.Lys1240Glu	missense variant	-	NC_000006.12:g.15520228A>G	ExAC,TOPMed,gnomAD
rs761993413	p.Lys1240Arg	missense variant	-	NC_000006.12:g.15520229A>G	ExAC,gnomAD
rs767983996	p.Ala1242Val	missense variant	-	NC_000006.12:g.15520235C>T	ExAC,gnomAD
rs201283605	p.Ser1243Leu	missense variant	-	NC_000006.12:g.15520238C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3859867	p.Ser1245Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15520243T>C	NCI-TCGA Cosmic

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001815	Primary Myelofibrosis	disease	BEFREE
C0003507	Aortic Valve Stenosis	disease	BEFREE;LHGDN
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0006826	Malignant Neoplasms	group	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0018798	Congenital Heart Defects	group	LHGDN
C0018801	Heart failure	disease	BEFREE
C0018802	Congestive heart failure	disease	BEFREE
C0023212	Left-Sided Heart Failure	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0023492	Leukemia, T-Cell	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027651	Neoplasms	group	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0035412	Rhabdomyosarcoma	disease	BEFREE
C0036341	Schizophrenia	disease	BEFREE;LHGDN;PSYGENET
C0039685	Tetralogy of Fallot	disease	BEFREE
C0080178	Spina Bifida	disease	LHGDN
C0338656	Impaired cognition	disease	BEFREE
C0432072	Dysmorphic features	disease	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0810364	Cleft Lip with or without Cleft Palate	disease	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1306459	Primary malignant neoplasm	group	BEFREE
C1510586	Autism Spectrum Disorders	disease	BEFREE;CTD_human
C2939420	Metastatic Neoplasm	phenotype	BEFREE
C3714756	Intellectual Disability	group	BEFREE
C4021813	Oral cleft	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IEA
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0003682	chromatin binding	ISS
GO:0008134	transcription factor binding	IEA
GO:0032452	histone demethylase activity	IBA
GO:0032452	histone demethylase activity	ISS
GO:0034647	histone demethylase activity (H3-trimethyl-K4 specific)	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA
GO:0001889	liver development	IEA
GO:0006338	chromatin remodeling	IBA
GO:0007417	central nervous system development	TAS
GO:0010614	negative regulation of cardiac muscle hypertrophy	IEA
GO:0031061	negative regulation of histone methylation	ISS
GO:0034721	histone H3-K4 demethylation, trimethyl-H3-K4-specific	IEA
GO:0045814	negative regulation of gene expression, epigenetic	TAS
GO:0045892	negative regulation of transcription, DNA-templated	ISS
GO:0048536	spleen development	IEA
GO:0048538	thymus development	IEA
GO:0048863	stem cell differentiation	ISS
GO:0051574	positive regulation of histone H3-K9 methylation	ISS
GO:0060044	negative regulation of cardiac muscle cell proliferation	IEA
GO:1990830	cellular response to leukemia inhibitory factor	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IDA
GO:0005634	nucleus	IBA
GO:0005654	nucleoplasm	IDA
GO:0005654	nucleoplasm	TAS
GO:0005739	mitochondrion	IDA
GO:0035097	histone methyltransferase complex	ISS
GO:0035097	histone methyltransferase complex	IBA
GO:0035098	ESC/E(Z) complex	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-212165	Epigenetic regulation of gene expression	TAS
R-HSA-212300	PRC2 methylates histones and DNA	TAS
R-HSA-74160	Gene expression (Transcription)	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C016780	11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid	[Cannabinoids results in increased abundance of 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid] which affects the methylation of JARID2 gene	30521419
D020001	1-Butanol	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of JARID2 mRNA	29432896
C010914	2,4-diaminotoluene	2,4-diaminotoluene results in decreased expression of JARID2 mRNA	20713471
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene results in decreased expression of JARID2 mRNA	20406850
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat 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 JARID2 mRNA	27188386
C517041	(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) results in increased expression of JARID2 mRNA	19561079
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 JARID2 mRNA	20382639
D015124	8-Bromo Cyclic Adenosine Monophosphate	8-Bromo Cyclic Adenosine Monophosphate results in increased expression of JARID2 mRNA	20147733
D000082	Acetaminophen	Acetaminophen results in increased expression of JARID2 mRNA	29067470
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of JARID2 mRNA	22100608
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of JARID2 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of JARID2 intron	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of JARID2 mRNA	19770486
C029753	aflatoxin B2	aflatoxin B2 results in decreased methylation of JARID2 intron	30157460
D000077237	Arsenic Trioxide	JARID2 protein results in increased susceptibility to Arsenic Trioxide	20707922
D017632	Asbestos, Serpentine	Asbestos, Serpentine results in increased expression of JARID2 mRNA	24160326
D001280	Atrazine	Atrazine results in decreased expression of JARID2 mRNA	25929836
D001280	Atrazine	Atrazine affects the methylation of JARID2 gene	28931070
C547126	AZM551248	AZM551248 results in decreased expression of JARID2 mRNA	22323515
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of JARID2 intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of JARID2 mRNA	20106945; 21632981; 22316170;
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of JARID2 mRNA	19770486
C026487	benzo(e)pyrene	benzo(e)pyrene affects the methylation of JARID2 intron	30157460
C006780	bisphenol A	bisphenol A results in decreased expression of JARID2 mRNA	25181051
D002186	Cannabinoids	[Cannabinoids results in increased abundance of 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid] which affects the methylation of JARID2 gene	30521419
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of JARID2 gene	20938992
D002945	Cisplatin	Cisplatin results in decreased expression of JARID2 mRNA	25270620
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of JARID2 protein	31163220
D004114	Dimethadione	Dimethadione results in increased expression of JARID2 mRNA	26311034
C024629	dimethyl phthalate	dimethyl phthalate results in increased expression of JARID2 mRNA	26924002
C516138	dorsomorphin	[NOG protein co-treated with entinostat 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 JARID2 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of JARID2 mRNA	29803840
C118739	entinostat	entinostat results in increased expression of JARID2 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat 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 JARID2 mRNA	27188386
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of JARID2 mRNA	22079256
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of JARID2 mRNA	30165855
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of JARID2 mRNA	17555576
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of JARID2 mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of JARID2 mRNA	17942748
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of JARID2 gene	20938992
D005557	Formaldehyde	Formaldehyde results in decreased expression of JARID2 mRNA	20655997; 23416264;
D005742	Gasoline	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of JARID2 mRNA	29432896
D005742	Gasoline	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of JARID2 mRNA	29432896
C007836	geraniol	geraniol results in increased expression of JARID2 mRNA	27683099
D006830	Hydralazine	[Hydralazine co-treated with Valproic Acid] results in increased expression of JARID2 mRNA	17183730
D006861	Hydrogen Peroxide	Hydrogen Peroxide results in decreased expression of JARID2 mRNA	18951874
C013038	hydroxyhydroquinone	hydroxyhydroquinone results in increased expression of JARID2 mRNA	17572062
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] affects the expression of JARID2 mRNA	25613284
D007545	Isoproterenol	Isoproterenol results in decreased expression of JARID2 mRNA	20003209
D008070	Lipopolysaccharides	Lipopolysaccharides results in decreased expression of JARID2 mRNA	12057914
D008701	Methapyrilene	Methapyrilene affects the methylation of JARID2 intron	30157460
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of JARID2 gene	20938992
D008727	Methotrexate	Methotrexate affects the expression of JARID2 mRNA	18502557
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of JARID2 mRNA	23649840
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate results in decreased expression of JARID2 mRNA	22401849
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of JARID2 mRNA	26924002
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of JARID2 mRNA	25554681
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in decreased expression of JARID2 mRNA	25729387
C016030	pantogab	pantogab results in decreased expression of JARID2 mRNA	17379144
D052638	Particulate Matter	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of JARID2 mRNA	29432896
D052638	Particulate Matter	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of JARID2 mRNA	29432896
D052638	Particulate Matter	Particulate Matter results in increased expression of JARID2 mRNA	29703138
C568608	PCI 5002	[PCI 5002 co-treated with Zinc] results in increased expression of JARID2 mRNA	18593933
C101814	perfluoro-n-undecanoic acid	perfluoro-n-undecanoic acid results in decreased expression of JARID2 mRNA	23602845
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of JARID2 mRNA	19710929
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of JARID2 mRNA	29432896
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 JARID2 mRNA	29432896
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of JARID2 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of JARID2 mRNA	22079256
D011791	Quartz	Quartz results in decreased expression of JARID2 protein	27917503
C513635	S-2-pentyl-4-pentynoic hydroxamic acid	S-2-pentyl-4-pentynoic hydroxamic acid results in decreased expression of JARID2 mRNA	21427059
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of JARID2 protein	27917503
D012834	Silver	Silver results in decreased expression of JARID2 mRNA	27131904
D013739	Testosterone	Testosterone results in decreased expression of JARID2 mRNA	20403060
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of JARID2 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of JARID2 mRNA	17942748
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] affects the expression of JARID2 mRNA	25613284
C009495	titanium dioxide	titanium dioxide results in increased expression of JARID2 mRNA	29264374
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in decreased expression of JARID2 mRNA	25729387
D019772	Topotecan	Topotecan results in decreased expression of JARID2 mRNA	25729387
D014212	Tretinoin	Tretinoin results in decreased expression of JARID2 mRNA	22906706
D014414	Tungsten	Tungsten results in decreased expression of JARID2 mRNA	30912803
D014635	Valproic Acid	[Hydralazine co-treated with Valproic Acid] results in increased expression of JARID2 mRNA	17183730
D014635	Valproic Acid	Valproic Acid affects the expression of JARID2 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of JARID2 mRNA	23179753
D014635	Valproic Acid	Valproic Acid results in decreased expression of JARID2 mRNA	19136453; 21427059;
D014638	Vanadates	Vanadates results in increased expression of JARID2 mRNA	22714537
D024483	Vitamin K 3	Vitamin K 3 affects the expression of JARID2 mRNA	20044591
D015032	Zinc	[PCI 5002 co-treated with Zinc] results in increased expression of JARID2 mRNA	18593933

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0007	Acetylation
KW-0025	Alternative splicing
KW-0156	Chromatin regulator
KW-0217	Developmental protein
KW-0221	Differentiation
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0678	Repressor
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR001606	ARID_dom
IPR036431	ARID_dom_sf
IPR003347	JmjC_dom
IPR003349	JmjN
IPR004198	Znf_C5HC2

PROSITE

PROSITE ID	PROSITE Term
PS51011	ARID
PS51184	JMJC
PS51183	JMJN

Pfam

Pfam ID	Pfam Term
PF01388	ARID
PF02373	JmjC
PF02375	JmjN
PF02928	zf-C5HC2

Gene: JARID2

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction