CleftGeneDB-Search

Gene: IGF2R

Basic information

Tag	Content
Uniprot ID	P11717; Q7Z7G9; Q96PT5;
Entrez ID	3482
Genbank protein ID	CAA68395.1; AAP37954.1; AAA59866.1; AAL04402.1; AAF16870.1;
Genbank nucleotide ID	NM_000876.3
Ensembl protein ID	ENSP00000349437
Ensembl nucleotide ID	ENSG00000197081
Gene name	Cation-independent mannose-6-phosphate receptor
Gene symbol	IGF2R
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low pH mediates the dissociation of the complex. This receptor also binds IGF2. Acts as a positive regulator of T-cell coactivation, by binding DPP4.
Sequence	MGAAAGRSPH LGPAPARRPQ RSLLLLQLLL LVAAPGSTQA QAAPFPELCS YTWEAVDTKN 60 NVLYKINICG SVDIVQCGPS SAVCMHDLKT RTYHSVGDSV LRSATRSLLE FNTTVSCDQQ 120 GTNHRVQSSI AFLCGKTLGT PEFVTATECV HYFEWRTTAA CKKDIFKANK EVPCYVFDEE 180 LRKHDLNPLI KLSGAYLVDD SDPDTSLFIN VCRDIDTLRD PGSQLRACPP GTAACLVRGH 240 QAFDVGQPRD GLKLVRKDRL VLSYVREEAG KLDFCDGHSP AVTITFVCPS ERREGTIPKL 300 TAKSNCRYEI EWITEYACHR DYLESKTCSL SGEQQDVSID LTPLAQSGGS SYISDGKEYL 360 FYLNVCGETE IQFCNKKQAA VCQVKKSDTS QVKAAGRYHN QTLRYSDGDL TLIYFGGDEC 420 SSGFQRMSVI NFECNKTAGN DGKGTPVFTG EVDCTYFFTW DTEYACVKEK EDLLCGATDG 480 KKRYDLSALV RHAEPEQNWE AVDGSQTETE KKHFFINICH RVLQEGKARG CPEDAAVCAV 540 DKNGSKNLGK FISSPMKEKG NIQLSYSDGD DCGHGKKIKT NITLVCKPGD LESAPVLRTS 600 GEGGCFYEFE WHTAAACVLS KTEGENCTVF DSQAGFSFDL SPLTKKNGAY KVETKKYDFY 660 INVCGPVSVS PCQPDSGACQ VAKSDEKTWN LGLSNAKLSY YDGMIQLNYR GGTPYNNERH 720 TPRATLITFL CDRDAGVGFP EYQEEDNSTY NFRWYTSYAC PEEPLECVVT DPSTLEQYDL 780 SSLAKSEGGL GGNWYAMDNS GEHVTWRKYY INVCRPLNPV PGCNRYASAC QMKYEKDQGS 840 FTEVVSISNL GMAKTGPVVE DSGSLLLEYV NGSACTTSDG RQTTYTTRIH LVCSRGRLNS 900 HPIFSLNWEC VVSFLWNTEA ACPIQTTTDT DQACSIRDPN SGFVFNLNPL NSSQGYNVSG 960 IGKIFMFNVC GTMPVCGTIL GKPASGCEAE TQTEELKNWK PARPVGIEKS LQLSTEGFIT 1020 LTYKGPLSAK GTADAFIVRF VCNDDVYSGP LKFLHQDIDS GQGIRNTYFE FETALACVPS 1080 PVDCQVTDLA GNEYDLTGLS TVRKPWTAVD TSVDGRKRTF YLSVCNPLPY IPGCQGSAVG 1140 SCLVSEGNSW NLGVVQMSPQ AAANGSLSIM YVNGDKCGNQ RFSTRITFEC AQISGSPAFQ 1200 LQDGCEYVFI WRTVEACPVV RVEGDNCEVK DPRHGNLYDL KPLGLNDTIV SAGEYTYYFR 1260 VCGKLSSDVC PTSDKSKVVS SCQEKREPQG FHKVAGLLTQ KLTYENGLLK MNFTGGDTCH 1320 KVYQRSTAIF FYCDRGTQRP VFLKETSDCS YLFEWRTQYA CPPFDLTECS FKDGAGNSFD 1380 LSSLSRYSDN WEAITGTGDP EHYLINVCKS LAPQAGTEPC PPEAAACLLG GSKPVNLGRV 1440 RDGPQWRDGI IVLKYVDGDL CPDGIRKKST TIRFTCSESQ VNSRPMFISA VEDCEYTFAW 1500 PTATACPMKS NEHDDCQVTN PSTGHLFDLS SLSGRAGFTA AYSEKGLVYM SICGENENCP 1560 PGVGACFGQT RISVGKANKR LRYVDQVLQL VYKDGSPCPS KSGLSYKSVI SFVCRPEARP 1620 TNRPMLISLD KQTCTLFFSW HTPLACEQAT ECSVRNGSSI VDLSPLIHRT GGYEAYDESE 1680 DDASDTNPDF YINICQPLNP MHGVPCPAGA AVCKVPIDGP PIDIGRVAGP PILNPIANEI 1740 YLNFESSTPC LADKHFNYTS LIAFHCKRGV SMGTPKLLRT SECDFVFEWE TPVVCPDEVR 1800 MDGCTLTDEQ LLYSFNLSSL STSTFKVTRD SRTYSVGVCT FAVGPEQGGC KDGGVCLLSG 1860 TKGASFGRLQ SMKLDYRHQD EAVVLSYVNG DRCPPETDDG VPCVFPFIFN GKSYEECIIE 1920 SRAKLWCSTT ADYDRDHEWG FCRHSNSYRT SSIIFKCDED EDIGRPQVFS EVRGCDVTFE 1980 WKTKVVCPPK KLECKFVQKH KTYDLRLLSS LTGSWSLVHN GVSYYINLCQ KIYKGPLGCS 2040 ERASICRRTT TGDVQVLGLV HTQKLGVIGD KVVVTYSKGY PCGGNKTASS VIELTCTKTV 2100 GRPAFKRFDI DSCTYYFSWD SRAACAVKPQ EVQMVNGTIT NPINGKSFSL GDIYFKLFRA 2160 SGDMRTNGDN YLYEIQLSSI TSSRNPACSG ANICQVKPND QHFSRKVGTS DKTKYYLQDG 2220 DLDVVFASSS KCGKDKTKSV SSTIFFHCDP LVEDGIPEFS HETADCQYLF SWYTSAVCPL 2280 GVGFDSENPG DDGQMHKGLS ERSQAVGAVL SLLLVALTCC LLALLLYKKE RRETVISKLT 2340 TCCRRSSNVS YKYSKVNKEE ETDENETEWL MEEIQLPPPR QGKEGQENGH ITTKSVKALS 2400 SLHGDDQDSE DEVLTIPEVK VHSGRGAGAE SSHPVRNAQS NALQEREDDR VGLVRGEKAR 2460 KGKSSSAQQK TVSSTKLVSF HDDSDEDLLH I 2491

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
1E6F
1GP0
1GP3
1GQB
1JPL
1JWG
1LF8
2CNJ
2L29
2L2A
2M68
2M6T
2V5N
2V5O
2V5P
5IEI
6N5X
6N5Y
1GP0
2CNJ
2L2A
2V5N
2V5O
5IEI

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	IGF2R	484067	B1H0W0		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	IGF2R	100860744	A0A452E644		Capra hircus	Prediction	More>>
1:1 ortholog	IGF2R	3482	P11717		Homo sapiens	Prediction	More>>
1:1 ortholog	Igf2r	16004	Q07113	CPO	Mus musculus	Publication	More>>
1:1 ortholog	IGF2R	463112	H2QU01		Pan troglodytes	Prediction	More>>
1:1 ortholog	IGF2R		F1SB67		Sus scrofa	Prediction	More>>
1:1 ortholog	Igf2r	25151	G3V824		Rattus norvegicus	Prediction	More>>
1:1 ortholog	igf2r	557061	Q2TTK0		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1455059498	p.Gly2Trp	missense variant	-	NC_000006.12:g.159969250G>T	TOPMed
rs1439740339	p.Ala5Thr	missense variant	-	NC_000006.12:g.159969259G>A	gnomAD
rs1338226468	p.Arg7Leu	missense variant	-	NC_000006.12:g.159969266G>T	TOPMed,gnomAD
rs1338226468	p.Arg7Gln	missense variant	-	NC_000006.12:g.159969266G>A	TOPMed,gnomAD
rs1018663090	p.Arg7Gly	missense variant	-	NC_000006.12:g.159969265C>G	TOPMed,gnomAD
rs1310553936	p.Ser8Thr	missense variant	-	NC_000006.12:g.159969269G>C	TOPMed
rs1310553936	p.Ser8Asn	missense variant	-	NC_000006.12:g.159969269G>A	TOPMed
rs1451748083	p.His10Asp	missense variant	-	NC_000006.12:g.159969274C>G	TOPMed,gnomAD
rs1451748083	p.His10Tyr	missense variant	-	NC_000006.12:g.159969274C>T	TOPMed,gnomAD
rs1308344015	p.His10Leu	missense variant	-	NC_000006.12:g.159969275A>T	TOPMed
rs966179119	p.Gly12Glu	missense variant	-	NC_000006.12:g.159969281G>A	TOPMed
rs1375181020	p.Gly12Arg	missense variant	-	NC_000006.12:g.159969280G>C	TOPMed
rs1373132256	p.Pro13Ser	missense variant	-	NC_000006.12:g.159969283C>T	TOPMed
rs1355574470	p.Pro13His	missense variant	-	NC_000006.12:g.159969284C>A	gnomAD
rs1026381846	p.Ala16Thr	missense variant	-	NC_000006.12:g.159969292G>A	TOPMed,gnomAD
rs952359897	p.Arg17Gly	missense variant	-	NC_000006.12:g.159969295C>G	TOPMed,gnomAD
rs952359897	p.Arg17Cys	missense variant	-	NC_000006.12:g.159969295C>T	TOPMed,gnomAD
rs763605966	p.Arg18Leu	missense variant	-	NC_000006.12:g.159969299G>T	ExAC,TOPMed,gnomAD
rs1201276099	p.Arg18Ser	missense variant	-	NC_000006.12:g.159969298C>A	gnomAD
rs1181541985	p.Pro19Ser	missense variant	-	NC_000006.12:g.159969301C>T	TOPMed
rs1183507601	p.Gln20His	missense variant	-	NC_000006.12:g.159969306G>T	gnomAD
rs764668970	p.Arg21His	missense variant	-	NC_000006.12:g.159969308G>A	ExAC,TOPMed,gnomAD
rs1239392464	p.Arg21Ser	missense variant	-	NC_000006.12:g.159969307C>A	gnomAD
rs764668970	p.Arg21Leu	missense variant	-	NC_000006.12:g.159969308G>T	ExAC,TOPMed,gnomAD
rs1401726747	p.Ser22Cys	missense variant	-	NC_000006.12:g.159969311C>G	TOPMed,gnomAD
rs1177214446	p.Leu23Arg	missense variant	-	NC_000006.12:g.159969314T>G	TOPMed,gnomAD
rs1177214446	p.Leu23Pro	missense variant	-	NC_000006.12:g.159969314T>C	TOPMed,gnomAD
rs1285234028	p.Leu23Val	missense variant	-	NC_000006.12:g.159969313C>G	TOPMed
rs751972253	p.Gln27Lys	missense variant	-	NC_000006.12:g.159969325C>A	ExAC,gnomAD
rs1444496810	p.Leu31Phe	missense variant	-	NC_000006.12:g.159969337C>T	TOPMed,gnomAD
rs1414882479	p.Val32Phe	missense variant	-	NC_000006.12:g.159969340G>T	TOPMed
rs992213511	p.Gly36Trp	missense variant	-	NC_000006.12:g.159969352G>T	TOPMed
rs1455780969	p.Ser37Ala	missense variant	-	NC_000006.12:g.159969355T>G	TOPMed
rs945432521	p.Thr38Met	missense variant	-	NC_000006.12:g.159969359C>T	TOPMed,gnomAD
rs753534364	p.Gln39Glu	missense variant	-	NC_000006.12:g.159969361C>G	ExAC,TOPMed,gnomAD
rs1459447728	p.Gln39Arg	missense variant	-	NC_000006.12:g.159969362A>G	gnomAD
rs753534364	p.Gln39Lys	missense variant	-	NC_000006.12:g.159969361C>A	ExAC,TOPMed,gnomAD
rs1194622706	p.Gln41Lys	missense variant	-	NC_000006.12:g.159969367C>A	gnomAD
rs1250177140	p.Ala42Val	missense variant	-	NC_000006.12:g.159969371C>T	TOPMed,gnomAD
rs1250177140	p.Ala42Asp	missense variant	-	NC_000006.12:g.159969371C>A	TOPMed,gnomAD
rs1434134895	p.Ala43Thr	missense variant	-	NC_000006.12:g.159969373G>A	gnomAD
rs1200540663	p.Pro44Ser	missense variant	-	NC_000006.12:g.159969376C>T	TOPMed,gnomAD
rs1200540663	p.Pro44Thr	missense variant	-	NC_000006.12:g.159969376C>A	TOPMed,gnomAD
rs1426814865	p.Pro44Gln	missense variant	-	NC_000006.12:g.159969377C>A	gnomAD
rs754611530	p.Glu47Asp	missense variant	-	NC_000006.12:g.159969387G>T	ExAC,gnomAD
rs754611530	p.Glu47Asp	missense variant	-	NC_000006.12:g.159969387G>C	ExAC,gnomAD
rs1486793595	p.Cys49Gly	missense variant	-	NC_000006.12:g.159969391T>G	TOPMed
rs1425077636	p.Ser50Arg	missense variant	-	NC_000006.12:g.159991184T>A	gnomAD
rs1187814366	p.Tyr51Asp	missense variant	-	NC_000006.12:g.159991185T>G	TOPMed,gnomAD
rs1169649545	p.Thr52Ala	missense variant	-	NC_000006.12:g.159991188A>G	gnomAD
rs752122186	p.Glu54Lys	missense variant	-	NC_000006.12:g.159991194G>A	ExAC
rs762160992	p.Val56Ile	missense variant	-	NC_000006.12:g.159991200G>A	ExAC,gnomAD
rs1364769977	p.Asp57Gly	missense variant	-	NC_000006.12:g.159991204A>G	gnomAD
rs1404500006	p.Thr58Ala	missense variant	-	NC_000006.12:g.159991206A>G	gnomAD
rs1299048682	p.Asn61Asp	missense variant	-	NC_000006.12:g.159991215A>G	gnomAD
rs143081256	p.Val62Ile	missense variant	-	NC_000006.12:g.159991218G>A	ESP,ExAC,TOPMed,gnomAD
rs750730242	p.Asn67Ser	missense variant	-	NC_000006.12:g.159991234A>G	ExAC,gnomAD
rs148344348	p.Ile68Phe	missense variant	-	NC_000006.12:g.159991236A>T	ESP,ExAC,gnomAD
rs752296293	p.Ile68Thr	missense variant	-	NC_000006.12:g.159991237T>C	ExAC,gnomAD
rs148344348	p.Ile68Val	missense variant	-	NC_000006.12:g.159991236A>G	ESP,ExAC,gnomAD
rs1247660547	p.Cys69Phe	missense variant	-	NC_000006.12:g.159991240G>T	gnomAD
rs757915126	p.Gly70Glu	missense variant	-	NC_000006.12:g.159991243G>A	ExAC,TOPMed,gnomAD
rs757915126	p.Gly70Ala	missense variant	-	NC_000006.12:g.159991243G>C	ExAC,TOPMed,gnomAD
rs747031754	p.Ser71Thr	missense variant	-	NC_000006.12:g.159991246G>C	ExAC,TOPMed,gnomAD
rs757132015	p.Asp73Gly	missense variant	-	NC_000006.12:g.159991252A>G	ExAC,gnomAD
rs745629855	p.Ile74Thr	missense variant	-	NC_000006.12:g.159991255T>C	ExAC,gnomAD
rs781093873	p.Ile74Val	missense variant	-	NC_000006.12:g.159991254A>G	ExAC,TOPMed,gnomAD
rs769674629	p.Val75Phe	missense variant	-	NC_000006.12:g.159991257G>T	ExAC,gnomAD
rs372323465	p.Gln76His	missense variant	-	NC_000006.12:g.159991262G>T	ESP,ExAC,TOPMed,gnomAD
rs749466130	p.Gln76Arg	missense variant	-	NC_000006.12:g.159991261A>G	ExAC,gnomAD
rs762430159	p.Gly78Arg	missense variant	-	NC_000006.12:g.159991266G>C	ExAC,TOPMed,gnomAD
rs762430159	p.Gly78Arg	missense variant	-	NC_000006.12:g.159991266G>A	ExAC,TOPMed,gnomAD
COSM1210363	p.Pro79Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.159991269C>T	NCI-TCGA Cosmic
rs1288319051	p.Ser81Gly	missense variant	-	NC_000006.12:g.159991275A>G	gnomAD
rs147110717	p.Val83Ile	missense variant	-	NC_000006.12:g.159991281G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1313626152	p.Cys84Arg	missense variant	-	NC_000006.12:g.159991284T>C	gnomAD
NCI-TCGA novel	p.Met85SerPheSerTerUnk	frameshift	-	NC_000006.12:g.159991286_159991287insTC	NCI-TCGA
rs766668837	p.Met85Thr	missense variant	-	NC_000006.12:g.159991288T>C	ExAC,TOPMed,gnomAD
rs1241377831	p.His86Arg	missense variant	-	NC_000006.12:g.159991291A>G	TOPMed,gnomAD
NCI-TCGA novel	p.His86Tyr	missense variant	-	NC_000006.12:g.159991290C>T	NCI-TCGA
rs758037852	p.Asp87Asn	missense variant	-	NC_000006.12:g.159991293G>A	ExAC,TOPMed,gnomAD
rs758037852	p.Asp87Asn	missense variant	-	NC_000006.12:g.159991293G>A	NCI-TCGA,NCI-TCGA Cosmic
rs763714994	p.Leu88Trp	missense variant	-	NC_000006.12:g.159991297T>G	ExAC,gnomAD
rs1483956994	p.Lys89Asn	missense variant	-	NC_000006.12:g.159991301G>C	gnomAD
rs8191704	p.Arg91Pro	missense variant	-	NC_000006.12:g.159991306G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs199950272	p.Arg91Cys	missense variant	-	NC_000006.12:g.159991305C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM741325	p.Arg91Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.159991305C>G	NCI-TCGA Cosmic
rs8191704	p.Arg91His	missense variant	-	NC_000006.12:g.159991306G>A	NCI-TCGA,NCI-TCGA Cosmic
rs8191704	p.Arg91His	missense variant	-	NC_000006.12:g.159991306G>A	UniProt,dbSNP
VAR_021304	p.Arg91His	missense variant	-	NC_000006.12:g.159991306G>A	UniProt
rs8191704	p.Arg91His	missense variant	-	NC_000006.12:g.159991306G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs8191704	p.Arg91Leu	missense variant	-	NC_000006.12:g.159991306G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs143824089	p.Thr92Ala	missense variant	-	NC_000006.12:g.159991308A>G	ESP,ExAC,TOPMed,gnomAD
rs143824089	p.Thr92Ser	missense variant	-	NC_000006.12:g.159991308A>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr93His	missense variant	-	NC_000006.12:g.159991311T>C	NCI-TCGA
rs768749227	p.His94Leu	missense variant	-	NC_000006.12:g.159991315A>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser95Leu	missense variant	-	NC_000006.12:g.159991318C>T	NCI-TCGA
rs1222332607	p.Val96Leu	missense variant	-	NC_000006.12:g.159991320G>T	TOPMed
rs1222332607	p.Val96Met	missense variant	-	NC_000006.12:g.159991320G>A	TOPMed
rs756743378	p.Ser99Cys	missense variant	-	NC_000006.12:g.160009016C>G	ExAC,TOPMed,gnomAD
rs766506221	p.Ser99Thr	missense variant	-	NC_000006.12:g.160009015T>A	ExAC,gnomAD
rs1452078727	p.Leu101Phe	missense variant	-	NC_000006.12:g.160009023G>C	TOPMed
rs1194028786	p.Arg102Ser	missense variant	-	NC_000006.12:g.160009026A>T	TOPMed
NCI-TCGA novel	p.Ala104Glu	missense variant	-	NC_000006.12:g.160009031C>A	NCI-TCGA
rs750393094	p.Thr105Ile	missense variant	-	NC_000006.12:g.160009034C>T	ExAC,gnomAD
rs1337453909	p.Thr105Ala	missense variant	-	NC_000006.12:g.160009033A>G	TOPMed
NCI-TCGA novel	p.Ser107Tyr	missense variant	-	NC_000006.12:g.160009040C>A	NCI-TCGA
NCI-TCGA novel	p.Ser107Thr	missense variant	-	NC_000006.12:g.160009039T>A	NCI-TCGA
rs780053781	p.Ser107Phe	missense variant	-	NC_000006.12:g.160009040C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu109Met	missense variant	-	NC_000006.12:g.160009045C>A	NCI-TCGA
rs753654411	p.Phe111Tyr	missense variant	-	NC_000006.12:g.160009052T>A	ExAC,gnomAD
rs368203999	p.Asn112Ser	missense variant	-	NC_000006.12:g.160009055A>G	ESP,ExAC,TOPMed,gnomAD
rs748343480	p.Thr113Ala	missense variant	-	NC_000006.12:g.160009057A>G	ExAC,gnomAD
rs772046456	p.Thr114Ala	missense variant	-	NC_000006.12:g.160009060A>G	ExAC,TOPMed,gnomAD
rs747569344	p.Ser116Arg	missense variant	-	NC_000006.12:g.160009068C>A	ExAC,gnomAD
COSM6173008	p.Cys117Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160009070G>C	NCI-TCGA Cosmic
rs372480074	p.Thr122Ala	missense variant	-	NC_000006.12:g.160009084A>G	ESP,ExAC,TOPMed,gnomAD
rs777024868	p.Asn123Ser	missense variant	-	NC_000006.12:g.160009088A>G	ExAC,gnomAD
rs759853967	p.His124Arg	missense variant	-	NC_000006.12:g.160009091A>G	ExAC,gnomAD
rs770149987	p.Arg125Gly	missense variant	-	NC_000006.12:g.160009093A>G	ExAC,TOPMed,gnomAD
rs1490891090	p.Val126Ile	missense variant	-	NC_000006.12:g.160009096G>A	gnomAD
rs1197543312	p.Gln127Arg	missense variant	-	NC_000006.12:g.160009100A>G	gnomAD
rs1328708338	p.Ser129Cys	missense variant	-	NC_000006.12:g.160009105A>T	TOPMed
rs1408719689	p.Ser129Asn	missense variant	-	NC_000006.12:g.160009106G>A	TOPMed
rs1478224718	p.Ile130Val	missense variant	-	NC_000006.12:g.160009108A>G	gnomAD
rs761463472	p.Ala131Thr	missense variant	-	NC_000006.12:g.160009111G>A	ExAC,gnomAD
rs749941647	p.Leu133Val	missense variant	-	NC_000006.12:g.160009117C>G	ExAC,gnomAD
NCI-TCGA novel	p.Cys134Arg	missense variant	-	NC_000006.12:g.160009120T>C	NCI-TCGA
rs760744760	p.Thr137Ala	missense variant	-	NC_000006.12:g.160009129A>G	ExAC,TOPMed
NCI-TCGA novel	p.Thr137ProPheSerTerUnk	frameshift	-	NC_000006.12:g.160009123G>-	NCI-TCGA
rs766448582	p.Thr137Asn	missense variant	-	NC_000006.12:g.160009130C>A	ExAC,TOPMed,gnomAD
rs759510003	p.Gly139Val	missense variant	-	NC_000006.12:g.160010688G>T	ExAC,gnomAD
rs764995243	p.Thr140Ile	missense variant	-	NC_000006.12:g.160010691C>T	ExAC,gnomAD
COSM3921017	p.Pro141Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160010693C>T	NCI-TCGA Cosmic
COSM1311785	p.Pro141Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160010693C>A	NCI-TCGA Cosmic
rs1207120044	p.Phe143Tyr	missense variant	-	NC_000006.12:g.160010700T>A	gnomAD
rs1361261652	p.Val144Ile	missense variant	-	NC_000006.12:g.160010702G>A	TOPMed
rs1174811277	p.Thr145Ile	missense variant	-	NC_000006.12:g.160010706C>T	TOPMed
NCI-TCGA novel	p.Ala146Thr	missense variant	-	NC_000006.12:g.160010708G>A	NCI-TCGA
rs1446554846	p.Thr147Ala	missense variant	-	NC_000006.12:g.160010711A>G	TOPMed,gnomAD
rs1245551715	p.Cys149Arg	missense variant	-	NC_000006.12:g.160010717T>C	gnomAD
rs751733844	p.Cys149Tyr	missense variant	-	NC_000006.12:g.160010718G>A	ExAC,gnomAD
rs781184877	p.Val150Met	missense variant	-	NC_000006.12:g.160010720G>A	ExAC,gnomAD
rs756631085	p.His151Tyr	missense variant	-	NC_000006.12:g.160010723C>T	ExAC,gnomAD
rs780333000	p.Phe153Cys	missense variant	-	NC_000006.12:g.160010730T>G	ExAC,gnomAD
rs749635350	p.Thr157Ile	missense variant	-	NC_000006.12:g.160010742C>T	ExAC,gnomAD
rs138722146	p.Thr158Asn	missense variant	-	NC_000006.12:g.160010745C>A	ESP,ExAC,TOPMed,gnomAD
rs1254992973	p.Thr158Ala	missense variant	-	NC_000006.12:g.160010744A>G	TOPMed
rs746593397	p.Ala159Glu	missense variant	-	NC_000006.12:g.160010748C>A	ExAC,gnomAD
rs746593397	p.Ala159Val	missense variant	-	NC_000006.12:g.160010748C>T	ExAC,gnomAD
rs573817058	p.Ala159Thr	missense variant	-	NC_000006.12:g.160010747G>A	1000Genomes,ExAC,gnomAD
rs770631088	p.Asp164Tyr	missense variant	-	NC_000006.12:g.160010762G>T	ExAC,gnomAD
rs759436909	p.Ile165Thr	missense variant	-	NC_000006.12:g.160010766T>C	ExAC,gnomAD
rs776187670	p.Ile165Val	missense variant	-	NC_000006.12:g.160010765A>G	ExAC
rs765187784	p.Ala168Thr	missense variant	-	NC_000006.12:g.160010774G>A	ExAC,gnomAD
COSM1441946	p.Lys170Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160010780A>C	NCI-TCGA Cosmic
rs1285676827	p.Val172Met	missense variant	-	NC_000006.12:g.160024572G>A	TOPMed
rs534827609	p.Tyr175Cys	missense variant	-	NC_000006.12:g.160024582A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs534827609	p.Tyr175Ser	missense variant	-	NC_000006.12:g.160024582A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1339710401	p.Tyr175Asn	missense variant	-	NC_000006.12:g.160024581T>A	TOPMed
rs745454767	p.Val176Met	missense variant	-	NC_000006.12:g.160024584G>A	ExAC,TOPMed,gnomAD
rs769355834	p.Asp178Gly	missense variant	-	NC_000006.12:g.160024591A>G	ExAC,gnomAD
rs779428929	p.Glu179Lys	missense variant	-	NC_000006.12:g.160024593G>A	ExAC,gnomAD
rs749281578	p.Glu180Gln	missense variant	-	NC_000006.12:g.160024596G>C	ExAC,gnomAD
rs149369030	p.Glu180Gly	missense variant	-	NC_000006.12:g.160024597A>G	ESP,ExAC,TOPMed,gnomAD
rs1405051656	p.Arg182Lys	missense variant	-	NC_000006.12:g.160024603G>A	TOPMed
NCI-TCGA novel	p.Lys183Gln	missense variant	-	NC_000006.12:g.160024605A>C	NCI-TCGA
rs1263259051	p.His184Arg	missense variant	-	NC_000006.12:g.160024609A>G	gnomAD
rs376405090	p.Asn187Ser	missense variant	-	NC_000006.12:g.160024618A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761628691	p.Asn187Asp	missense variant	-	NC_000006.12:g.160024617A>G	ExAC,gnomAD
rs1165674251	p.Ile190Met	missense variant	-	NC_000006.12:g.160024628C>G	TOPMed,gnomAD
rs773009517	p.Ile190Thr	missense variant	-	NC_000006.12:g.160024627T>C	TOPMed,gnomAD
rs773485154	p.Lys191Glu	missense variant	-	NC_000006.12:g.160024629A>G	ExAC,gnomAD
rs766537029	p.Ala195Gly	missense variant	-	NC_000006.12:g.160024642C>G	ExAC,TOPMed,gnomAD
COSM3994711	p.Tyr196His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160024644T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp199Glu	missense variant	-	NC_000006.12:g.160024655T>G	NCI-TCGA
rs148660289	p.Asp199Gly	missense variant	-	NC_000006.12:g.160024654A>G	ESP,ExAC,TOPMed,gnomAD
rs537176017	p.Asp200Val	missense variant	-	NC_000006.12:g.160024657A>T	1000Genomes
COSM3622473	p.Ser201Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160024660C>T	NCI-TCGA Cosmic
rs758806961	p.Asp202His	missense variant	-	NC_000006.12:g.160024662G>C	ExAC,TOPMed,gnomAD
rs953381775	p.Asp202Gly	missense variant	-	NC_000006.12:g.160024663A>G	TOPMed
rs758806961	p.Asp202Asn	missense variant	-	NC_000006.12:g.160024662G>A	ExAC,TOPMed,gnomAD
rs750160785	p.Pro203Ser	missense variant	-	NC_000006.12:g.160024665C>T	ExAC,gnomAD
rs8191746	p.Pro203Leu	missense variant	-	NC_000006.12:g.160024666C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1484640940	p.Asp204Val	missense variant	-	NC_000006.12:g.160024669A>T	gnomAD
rs778846648	p.Thr205Ile	missense variant	-	NC_000006.12:g.160024672C>T	ExAC,TOPMed,gnomAD
rs768116269	p.Thr205Ala	missense variant	-	NC_000006.12:g.160024671A>G	ExAC,TOPMed,gnomAD
rs771967379	p.Leu207Val	missense variant	-	NC_000006.12:g.160024677C>G	ExAC,gnomAD
rs772869020	p.Ile209Val	missense variant	-	NC_000006.12:g.160024683A>G	ExAC,gnomAD
COSM3860120	p.Asn210Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160024687A>T	NCI-TCGA Cosmic
rs761005920	p.Asn210Ser	missense variant	-	NC_000006.12:g.160024687A>G	ExAC,TOPMed,gnomAD
rs1160130644	p.Asn210Asp	missense variant	-	NC_000006.12:g.160024686A>G	gnomAD
rs777659419	p.Thr217Arg	missense variant	-	NC_000006.12:g.160027188C>G	ExAC,TOPMed,gnomAD
rs777659419	p.Thr217Ile	missense variant	-	NC_000006.12:g.160027188C>T	ExAC,TOPMed,gnomAD
rs1211217775	p.Leu218Pro	missense variant	-	NC_000006.12:g.160027191T>C	TOPMed
rs770798433	p.Arg219Ter	stop gained	-	NC_000006.12:g.160027193C>T	ExAC,TOPMed,gnomAD
rs770798433	p.Arg219Gly	missense variant	-	NC_000006.12:g.160027193C>G	ExAC,TOPMed,gnomAD
rs777003793	p.Arg219Gln	missense variant	-	NC_000006.12:g.160027194G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser223Ter	stop gained	-	NC_000006.12:g.160027206C>G	NCI-TCGA
rs994035822	p.Leu225Pro	missense variant	-	NC_000006.12:g.160027212T>C	gnomAD
rs746024088	p.Arg226Trp	missense variant	-	NC_000006.12:g.160027214C>T	ExAC,TOPMed,gnomAD
rs572853661	p.Arg226Gln	missense variant	-	NC_000006.12:g.160027215G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1206290347	p.Ala227Thr	missense variant	-	NC_000006.12:g.160027217G>A	TOPMed,gnomAD
rs1206290347	p.Ala227Pro	missense variant	-	NC_000006.12:g.160027217G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Pro229His	missense variant	-	NC_000006.12:g.160027224C>A	NCI-TCGA
rs763568046	p.Pro229Arg	missense variant	-	NC_000006.12:g.160027224C>G	ExAC,TOPMed,gnomAD
rs763568046	p.Pro229Leu	missense variant	-	NC_000006.12:g.160027224C>T	ExAC,TOPMed,gnomAD
rs373677502	p.Pro229Ser	missense variant	-	NC_000006.12:g.160027223C>T	ESP,ExAC,gnomAD
rs367819391	p.Pro230Leu	missense variant	-	NC_000006.12:g.160027227C>T	ESP,ExAC,gnomAD
rs8191753	p.Gly231Asp	missense variant	-	NC_000006.12:g.160027230G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly231AlaPheSerTerUnk	frameshift	-	NC_000006.12:g.160027223C>-	NCI-TCGA
rs139454864	p.Gly231Ser	missense variant	-	NC_000006.12:g.160027229G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs76235629	p.Thr232Ala	missense variant	-	NC_000006.12:g.160027232A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs752117342	p.Ala234Thr	missense variant	-	NC_000006.12:g.160027238G>A	ExAC,TOPMed,gnomAD
rs1346850204	p.Cys235Tyr	missense variant	-	NC_000006.12:g.160027242G>A	gnomAD
rs777591060	p.Leu236Val	missense variant	-	NC_000006.12:g.160027244C>G	ExAC,gnomAD
rs746902927	p.Val237Leu	missense variant	-	NC_000006.12:g.160027247G>C	ExAC,gnomAD
rs997220455	p.Gly239Arg	missense variant	-	NC_000006.12:g.160027253G>A	TOPMed
rs139474833	p.Gly239Glu	missense variant	-	NC_000006.12:g.160027254G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1210998794	p.His240Tyr	missense variant	-	NC_000006.12:g.160027256C>T	TOPMed
rs1330379787	p.His240Arg	missense variant	-	NC_000006.12:g.160027257A>G	TOPMed
rs781133341	p.Gln241Lys	missense variant	-	NC_000006.12:g.160027259C>A	ExAC,gnomAD
rs200856656	p.Ala242Val	missense variant	-	NC_000006.12:g.160027263C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1270549691	p.Ala242Thr	missense variant	-	NC_000006.12:g.160027262G>A	TOPMed,gnomAD
rs1292829552	p.Phe243Cys	missense variant	-	NC_000006.12:g.160027266T>G	gnomAD
rs775680443	p.Asp244Gly	missense variant	-	NC_000006.12:g.160027269A>G	ExAC,TOPMed,gnomAD
rs775680443	p.Asp244Val	missense variant	-	NC_000006.12:g.160027269A>T	ExAC,TOPMed,gnomAD
rs149684248	p.Val245Leu	missense variant	-	NC_000006.12:g.160027271G>C	ESP,ExAC,gnomAD
rs149684248	p.Val245Ile	missense variant	-	NC_000006.12:g.160027271G>A	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Gly246Ala	missense variant	-	NC_000006.12:g.160027275G>C	NCI-TCGA
rs768734491	p.Gln247Arg	missense variant	-	NC_000006.12:g.160027278A>G	ExAC,gnomAD
rs1476003235	p.Pro248Ala	missense variant	-	NC_000006.12:g.160027280C>G	TOPMed,gnomAD
rs1476003235	p.Pro248Ser	missense variant	-	NC_000006.12:g.160027280C>T	TOPMed,gnomAD
rs774736150	p.Pro248Leu	missense variant	-	NC_000006.12:g.160027281C>T	ExAC,gnomAD
rs150809922	p.Arg249Trp	missense variant	-	NC_000006.12:g.160027283C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150809922	p.Arg249Gly	missense variant	-	NC_000006.12:g.160027283C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772482202	p.Arg249Gln	missense variant	-	NC_000006.12:g.160027284G>A	ExAC,TOPMed,gnomAD
rs560401254	p.Gly251Glu	missense variant	-	NC_000006.12:g.160027290G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs759226802	p.Gly251Arg	missense variant	-	NC_000006.12:g.160027289G>A	ExAC,gnomAD
rs8191754	p.Leu252Val	missense variant	-	NC_000006.12:g.160027292C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147721318	p.Val255Glu	missense variant	-	NC_000006.12:g.160027302T>A	ESP,TOPMed,gnomAD
rs1326531060	p.Val255Met	missense variant	-	NC_000006.12:g.160027301G>A	gnomAD
rs142589883	p.Arg256Gly	missense variant	-	NC_000006.12:g.160027304C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142589883	p.Arg256Cys	missense variant	-	NC_000006.12:g.160027304C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371916370	p.Arg256His	missense variant	-	NC_000006.12:g.160027305G>A	ESP,ExAC,TOPMed,gnomAD
rs371916370	p.Arg256Leu	missense variant	-	NC_000006.12:g.160027305G>T	ESP,ExAC,TOPMed,gnomAD
rs371916370	p.Arg256Pro	missense variant	-	NC_000006.12:g.160027305G>C	ESP,ExAC,TOPMed,gnomAD
rs1364189379	p.Lys257Arg	missense variant	-	NC_000006.12:g.160027308A>G	gnomAD
rs750215733	p.Asp258Gly	missense variant	-	NC_000006.12:g.160027311A>G	ExAC,gnomAD
rs368673236	p.Tyr264Asn	missense variant	-	NC_000006.12:g.160029563T>A	ESP,ExAC,TOPMed
rs199715599	p.Val265Met	missense variant	-	NC_000006.12:g.160029566G>A	ExAC,TOPMed,gnomAD
rs761885816	p.Arg266Ser	missense variant	-	NC_000006.12:g.160029571G>T	ExAC,gnomAD
rs767594886	p.Glu267Val	missense variant	-	NC_000006.12:g.160029573A>T	ExAC,gnomAD
rs752895477	p.Ala269Ser	missense variant	-	NC_000006.12:g.160029578G>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys271Asn	missense variant	-	NC_000006.12:g.160029586G>T	NCI-TCGA
rs8191758	p.Asp273Gly	missense variant	-	NC_000006.12:g.160029591A>G	ESP,ExAC,TOPMed,gnomAD
rs754064175	p.Cys275Gly	missense variant	-	NC_000006.12:g.160029596T>G	ExAC,gnomAD
rs148289420	p.Gly277Asp	missense variant	-	NC_000006.12:g.160029603G>A	ESP,ExAC,gnomAD
rs1235588066	p.Ser279Asn	missense variant	-	NC_000006.12:g.160029609G>A	gnomAD
rs141432723	p.Ser279Gly	missense variant	-	NC_000006.12:g.160029608A>G	ESP,ExAC,TOPMed,gnomAD
rs919932123	p.Ala281Val	missense variant	-	NC_000006.12:g.160029615C>T	TOPMed,gnomAD
rs1199831106	p.Thr283Ala	missense variant	-	NC_000006.12:g.160029620A>G	gnomAD
rs771263817	p.Thr283Asn	missense variant	-	NC_000006.12:g.160029621C>A	ExAC,gnomAD
rs1444680491	p.Ile284Val	missense variant	-	NC_000006.12:g.160029623A>G	gnomAD
rs1301671137	p.Thr285Ala	missense variant	-	NC_000006.12:g.160029626A>G	TOPMed
NCI-TCGA novel	p.Phe286Ser	missense variant	-	NC_000006.12:g.160029630T>C	NCI-TCGA
rs1328642629	p.Cys288Ser	missense variant	-	NC_000006.12:g.160029635T>A	gnomAD
rs373279911	p.Pro289Arg	missense variant	-	NC_000006.12:g.160029639C>G	ESP,ExAC,TOPMed,gnomAD
rs373279911	p.Pro289Leu	missense variant	-	NC_000006.12:g.160029639C>T	ESP,ExAC,TOPMed,gnomAD
rs1224630268	p.Pro289Ser	missense variant	-	NC_000006.12:g.160029638C>T	gnomAD
rs377184247	p.Ser290Leu	missense variant	-	NC_000006.12:g.160029642C>T	ESP,ExAC,TOPMed,gnomAD
rs370150079	p.Arg292Gln	missense variant	-	NC_000006.12:g.160029648G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200510844	p.Arg292Gly	missense variant	-	NC_000006.12:g.160029647C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs200510844	p.Arg292Trp	missense variant	-	NC_000006.12:g.160029647C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1182243840	p.Glu294Gly	missense variant	-	NC_000006.12:g.160029654A>G	TOPMed
rs1447597837	p.Gly295Asp	missense variant	-	NC_000006.12:g.160032552G>A	gnomAD
COSM3697647	p.Thr296Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160032555C>T	NCI-TCGA Cosmic
rs756508654	p.Ile297Val	missense variant	-	NC_000006.12:g.160032557A>G	ExAC,gnomAD
rs1018194928	p.Pro298Ser	missense variant	-	NC_000006.12:g.160032560C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Lys299Thr	missense variant	-	NC_000006.12:g.160032564A>C	NCI-TCGA
rs1397519098	p.Leu300Phe	missense variant	-	NC_000006.12:g.160032566C>T	TOPMed
rs1445412501	p.Thr301Arg	missense variant	-	NC_000006.12:g.160032570C>G	gnomAD
rs747870299	p.Ala302Gly	missense variant	-	NC_000006.12:g.160032573C>G	ExAC,gnomAD
rs1289950230	p.Ser304Tyr	missense variant	-	NC_000006.12:g.160032579C>A	gnomAD
rs74483248	p.Asn305Thr	missense variant	-	NC_000006.12:g.160032582A>C	ExAC,TOPMed,gnomAD
rs74483248	p.Asn305Ser	missense variant	-	NC_000006.12:g.160032582A>G	ExAC,TOPMed,gnomAD
rs746547178	p.Arg307Cys	missense variant	-	NC_000006.12:g.160032587C>T	ExAC,TOPMed
rs770284613	p.Arg307His	missense variant	-	NC_000006.12:g.160032588G>A	ExAC,TOPMed,gnomAD
rs770284613	p.Arg307His	missense variant	-	NC_000006.12:g.160032588G>A	NCI-TCGA
rs1320254673	p.Tyr308Cys	missense variant	-	NC_000006.12:g.160032591A>G	gnomAD
rs1425873897	p.Ile310Thr	missense variant	-	NC_000006.12:g.160032597T>C	TOPMed
NCI-TCGA novel	p.Thr314Ala	missense variant	-	NC_000006.12:g.160032608A>G	NCI-TCGA
rs759386027	p.Tyr316Cys	missense variant	-	NC_000006.12:g.160032615A>G	ExAC,gnomAD
rs775242012	p.Ala317Pro	missense variant	-	NC_000006.12:g.160032617G>C	ExAC,gnomAD
rs775242012	p.Ala317Ser	missense variant	-	NC_000006.12:g.160032617G>T	ExAC,gnomAD
COSM741323	p.Cys318Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160032621G>C	NCI-TCGA Cosmic
rs764333228	p.His319Gln	missense variant	-	NC_000006.12:g.160032625C>G	ExAC,gnomAD
rs764333228	p.His319Gln	missense variant	-	NC_000006.12:g.160032625C>G	NCI-TCGA
NCI-TCGA novel	p.Asp321Ala	missense variant	-	NC_000006.12:g.160032630A>C	NCI-TCGA
rs751683771	p.Leu323Pro	missense variant	-	NC_000006.12:g.160032636T>C	ExAC,gnomAD
rs1255755364	p.Gly332Asp	missense variant	-	NC_000006.12:g.160032663G>A	TOPMed
rs201643806	p.Gly332Ser	missense variant	-	NC_000006.12:g.160032662G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs146231442	p.Glu333Lys	missense variant	-	NC_000006.12:g.160032665G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu333Asp	missense variant	-	NC_000006.12:g.160032667G>T	NCI-TCGA
rs200914162	p.Glu333Gly	missense variant	-	NC_000006.12:g.160032666A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln334Ter	stop gained	-	NC_000006.12:g.160032668C>T	NCI-TCGA
rs1159833176	p.Gln335Arg	missense variant	-	NC_000006.12:g.160032672A>G	gnomAD
rs1373956831	p.Asp336His	missense variant	-	NC_000006.12:g.160032674G>C	TOPMed
rs139309515	p.Asp336Val	missense variant	-	NC_000006.12:g.160032675A>T	ESP,ExAC,TOPMed,gnomAD
rs1456095686	p.Val337Ile	missense variant	-	NC_000006.12:g.160032677G>A	gnomAD
rs1159130292	p.Ser338Phe	missense variant	-	NC_000006.12:g.160032681C>T	gnomAD
rs1159130292	p.Ser338Phe	missense variant	-	NC_000006.12:g.160032681C>T	NCI-TCGA
NCI-TCGA novel	p.Ile339Leu	missense variant	-	NC_000006.12:g.160032683A>C	NCI-TCGA
rs369933452	p.Ile339Val	missense variant	-	NC_000006.12:g.160032683A>G	NCI-TCGA
rs369933452	p.Ile339Val	missense variant	-	NC_000006.12:g.160032683A>G	TOPMed
rs1407298119	p.Asp340Asn	missense variant	-	NC_000006.12:g.160032686G>A	gnomAD
COSM1075581	p.Leu341Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160032689C>A	NCI-TCGA Cosmic
rs777491491	p.Thr342Ala	missense variant	-	NC_000006.12:g.160032692A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro343Ser	missense variant	-	NC_000006.12:g.160032695C>T	NCI-TCGA
rs1377906141	p.Ala345Pro	missense variant	-	NC_000006.12:g.160032701G>C	gnomAD
rs770540501	p.Gly348Arg	missense variant	-	NC_000006.12:g.160032710G>A	ExAC,TOPMed,gnomAD
rs142637746	p.Gly349Asp	missense variant	-	NC_000006.12:g.160032942G>A	ESP,ExAC,TOPMed,gnomAD
rs142637746	p.Gly349Val	missense variant	-	NC_000006.12:g.160032942G>T	ESP,ExAC,TOPMed,gnomAD
rs1277110301	p.Ser350Leu	missense variant	-	NC_000006.12:g.160032945C>T	TOPMed,gnomAD
rs1205485509	p.Ser350Pro	missense variant	-	NC_000006.12:g.160032944T>C	gnomAD
rs751282169	p.Tyr352Cys	missense variant	-	NC_000006.12:g.160032951A>G	NCI-TCGA
rs751282169	p.Tyr352Cys	missense variant	-	NC_000006.12:g.160032951A>G	ExAC,gnomAD
rs756835735	p.Ile353Leu	missense variant	-	NC_000006.12:g.160032953A>C	ExAC,gnomAD
rs780793160	p.Ser354Thr	missense variant	-	NC_000006.12:g.160032956T>A	ExAC,gnomAD
rs148608443	p.Asp355Asn	missense variant	-	NC_000006.12:g.160032959G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142077419	p.Asp355Gly	missense variant	-	NC_000006.12:g.160032960A>G	ESP,ExAC,TOPMed,gnomAD
rs749156946	p.Lys357Thr	missense variant	-	NC_000006.12:g.160032966A>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu358Ter	stop gained	-	NC_000006.12:g.160032968G>T	NCI-TCGA
NCI-TCGA novel	p.Glu358Lys	missense variant	-	NC_000006.12:g.160032968G>A	NCI-TCGA
rs1428707189	p.Leu360Trp	missense variant	-	NC_000006.12:g.160032975T>G	gnomAD
rs376646523	p.Val365Ile	missense variant	-	NC_000006.12:g.160032989G>A	ESP,ExAC,TOPMed,gnomAD
rs1291906404	p.Cys366Tyr	missense variant	-	NC_000006.12:g.160032993G>A	TOPMed
COSM4919338	p.Gly367Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.160032995G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu368Ter	stop gained	-	NC_000006.12:g.160032998G>T	NCI-TCGA
NCI-TCGA novel	p.Glu368Lys	missense variant	-	NC_000006.12:g.160032998G>A	NCI-TCGA
rs1274257871	p.Ile371Thr	missense variant	-	NC_000006.12:g.160033008T>C	gnomAD
rs981641288	p.Ile371Leu	missense variant	-	NC_000006.12:g.160033007A>C	TOPMed,gnomAD
rs981641288	p.Ile371Val	missense variant	-	NC_000006.12:g.160033007A>G	TOPMed,gnomAD
rs1230273065	p.Phe373Leu	missense variant	-	NC_000006.12:g.160033015C>G	gnomAD
rs1362388026	p.Phe373Leu	missense variant	-	NC_000006.12:g.160033013T>C	gnomAD
rs748453994	p.Asn375Ser	missense variant	-	NC_000006.12:g.160033020A>G	ExAC,TOPMed,gnomAD
rs772212062	p.Lys376Thr	missense variant	-	NC_000006.12:g.160033023A>C	ExAC,TOPMed,gnomAD
COSM1329228	p.Ala380Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160033034G>T	NCI-TCGA Cosmic
COSM267947	p.Val384Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160033046G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys386Ter	stop gained	-	NC_000006.12:g.160033052A>T	NCI-TCGA
rs1246696171	p.Ser387Thr	missense variant	-	NC_000006.12:g.160033056G>C	gnomAD
rs1246696171	p.Ser387Asn	missense variant	-	NC_000006.12:g.160033056G>A	gnomAD
rs766496292	p.Asp388Asn	missense variant	-	NC_000006.12:g.160033058G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln391Glu	missense variant	-	NC_000006.12:g.160033067C>G	NCI-TCGA
rs369844091	p.Gln391Arg	missense variant	-	NC_000006.12:g.160033068A>G	ESP,ExAC,TOPMed,gnomAD
rs1468541307	p.Val392Gly	missense variant	-	NC_000006.12:g.160033071T>G	TOPMed
rs200137298	p.Tyr398Phe	missense variant	-	NC_000006.12:g.160033089A>T	1000Genomes,ExAC,gnomAD
rs758751597	p.His399Arg	missense variant	-	NC_000006.12:g.160033092A>G	ExAC,TOPMed,gnomAD
rs560576091	p.Asn400Ser	missense variant	-	NC_000006.12:g.160033095A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs546763515	p.Asn400His	missense variant	-	NC_000006.12:g.160033094A>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Leu403ProPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.160033104T>-	NCI-TCGA
rs139515354	p.Leu403Val	missense variant	-	NC_000006.12:g.160033103C>G	ESP,ExAC,TOPMed,gnomAD
rs139515354	p.Leu403Phe	missense variant	-	NC_000006.12:g.160033103C>T	ESP,ExAC,TOPMed,gnomAD
rs201726467	p.Arg404Gln	missense variant	-	NC_000006.12:g.160033107G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201726467	p.Arg404Leu	missense variant	-	NC_000006.12:g.160033107G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs963372359	p.Arg404Ter	stop gained	-	NC_000006.12:g.160033106C>T	TOPMed,gnomAD
rs753316949	p.Ser406Leu	missense variant	-	NC_000006.12:g.160034424C>T	ExAC,TOPMed,gnomAD
rs1473324173	p.Asp407Asn	missense variant	-	NC_000006.12:g.160034426G>A	gnomAD
NCI-TCGA novel	p.Asp409Tyr	missense variant	-	NC_000006.12:g.160034432G>T	NCI-TCGA
rs1179906959	p.Leu410Phe	missense variant	-	NC_000006.12:g.160034435C>T	gnomAD
NCI-TCGA novel	p.Leu410His	missense variant	-	NC_000006.12:g.160034436T>A	NCI-TCGA
rs1234424491	p.Thr411Ala	missense variant	-	NC_000006.12:g.160034438A>G	TOPMed
rs1361948037	p.Thr411Asn	missense variant	-	NC_000006.12:g.160034439C>A	TOPMed
rs778726806	p.Ile413Met	missense variant	-	NC_000006.12:g.160034446A>G	ExAC,TOPMed,gnomAD
rs1174067825	p.Tyr414His	missense variant	-	NC_000006.12:g.160034447T>C	gnomAD
rs1399820096	p.Asp418Asn	missense variant	-	NC_000006.12:g.160034459G>A	gnomAD
NCI-TCGA novel	p.Ser421Arg	missense variant	-	NC_000006.12:g.160034468A>C	NCI-TCGA
rs752608695	p.Ser421Asn	missense variant	-	NC_000006.12:g.160034469G>A	ExAC,gnomAD
rs1333800436	p.Arg426Trp	missense variant	-	NC_000006.12:g.160034483C>T	gnomAD
rs187620360	p.Arg426Gln	missense variant	-	NC_000006.12:g.160034484G>A	1000Genomes,ExAC,gnomAD
rs147711556	p.Met427Ile	missense variant	-	NC_000006.12:g.160034488G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser428Gly	missense variant	-	NC_000006.12:g.160034489A>G	NCI-TCGA
rs375890841	p.Val429Leu	missense variant	-	NC_000006.12:g.160034492G>C	ESP,ExAC,TOPMed,gnomAD
rs375890841	p.Val429Ile	missense variant	-	NC_000006.12:g.160034492G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe432Cys	missense variant	-	NC_000006.12:g.160034502T>G	NCI-TCGA
rs1234633883	p.Phe432Leu	missense variant	-	NC_000006.12:g.160034503T>G	gnomAD
rs771246023	p.Asn435Lys	missense variant	-	NC_000006.12:g.160034512T>G	ExAC
rs781523760	p.Thr437Asn	missense variant	-	NC_000006.12:g.160034517C>A	ExAC,gnomAD
rs201596703	p.Ala438Ser	missense variant	-	NC_000006.12:g.160034519G>T	TOPMed,gnomAD
rs201596703	p.Ala438Thr	missense variant	-	NC_000006.12:g.160034519G>A	TOPMed,gnomAD
rs1265113981	p.Gly439Asp	missense variant	-	NC_000006.12:g.160040560G>A	TOPMed,gnomAD
COSM483637	p.Asp441Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160040565G>T	NCI-TCGA Cosmic
rs374199635	p.Asp441Val	missense variant	-	NC_000006.12:g.160040566A>T	TOPMed
rs769831848	p.Asp441Asn	missense variant	-	NC_000006.12:g.160040565G>A	ExAC,TOPMed,gnomAD
rs769831848	p.Asp441Asn	missense variant	-	NC_000006.12:g.160040565G>A	NCI-TCGA
rs1436226824	p.Lys443Arg	missense variant	-	NC_000006.12:g.160040572A>G	TOPMed
rs995837646	p.Gly444Ala	missense variant	-	NC_000006.12:g.160040575G>C	TOPMed,gnomAD
rs545847434	p.Thr445Ala	missense variant	-	NC_000006.12:g.160040577A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs545847434	p.Thr445Ser	missense variant	-	NC_000006.12:g.160040577A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs769124601	p.Thr445Ile	missense variant	-	NC_000006.12:g.160040578C>T	ExAC,TOPMed,gnomAD
rs769124601	p.Thr445Asn	missense variant	-	NC_000006.12:g.160040578C>A	ExAC,TOPMed,gnomAD
rs145880697	p.Pro446Leu	missense variant	-	NC_000006.12:g.160040581C>T	NCI-TCGA
rs145880697	p.Pro446Leu	missense variant	-	NC_000006.12:g.160040581C>T	ESP,ExAC,TOPMed,gnomAD
rs762191176	p.Val447Leu	missense variant	-	NC_000006.12:g.160040583G>T	ExAC,gnomAD
rs772354376	p.Glu451Gln	missense variant	-	NC_000006.12:g.160040595G>C	ExAC,gnomAD
rs776209096	p.Val452Phe	missense variant	-	NC_000006.12:g.160040598G>T	ExAC,TOPMed,gnomAD
rs1171563414	p.Asp453His	missense variant	-	NC_000006.12:g.160040601G>C	TOPMed
rs1476834642	p.Thr455Ala	missense variant	-	NC_000006.12:g.160040607A>G	TOPMed
rs759209667	p.Tyr456Ser	missense variant	-	NC_000006.12:g.160040611A>C	ExAC,TOPMed,gnomAD
rs775034193	p.Phe457Leu	missense variant	-	NC_000006.12:g.160040615C>G	ExAC,gnomAD
rs762328569	p.Phe458Ile	missense variant	-	NC_000006.12:g.160040616T>A	ExAC,gnomAD
rs1246271495	p.Thr462Ala	missense variant	-	NC_000006.12:g.160040628A>G	gnomAD
rs148927830	p.Thr462Met	missense variant	-	NC_000006.12:g.160040629C>T	ESP,ExAC,gnomAD
rs757124612	p.Glu463Lys	missense variant	-	NC_000006.12:g.160040631G>A	ExAC,TOPMed,gnomAD
rs750670588	p.Ala465Thr	missense variant	-	NC_000006.12:g.160040637G>A	NCI-TCGA,NCI-TCGA Cosmic
rs750670588	p.Ala465Thr	missense variant	-	NC_000006.12:g.160040637G>A	ExAC,gnomAD
rs1273984859	p.Val467Phe	missense variant	-	NC_000006.12:g.160040643G>T	TOPMed
rs1218932999	p.Lys470Arg	missense variant	-	NC_000006.12:g.160040653A>G	TOPMed
rs749418578	p.Asp472Glu	missense variant	-	NC_000006.12:g.160040660C>A	ExAC,gnomAD
rs780042411	p.Asp472Val	missense variant	-	NC_000006.12:g.160040659A>T	ExAC
rs755005034	p.Leu473Ile	missense variant	-	NC_000006.12:g.160040661C>A	ExAC,TOPMed,gnomAD
rs202065634	p.Leu474Phe	missense variant	-	NC_000006.12:g.160040664C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs377617959	p.Gly476Ser	missense variant	-	NC_000006.12:g.160040670G>A	ExAC,gnomAD
rs377617959	p.Gly476Cys	missense variant	-	NC_000006.12:g.160040670G>T	ExAC,gnomAD
rs201174713	p.Asp479Glu	missense variant	-	NC_000006.12:g.160040681C>A	ESP,ExAC,TOPMed,gnomAD
rs746398907	p.Asp479Asn	missense variant	-	NC_000006.12:g.160040679G>A	NCI-TCGA
rs746398907	p.Asp479Asn	missense variant	-	NC_000006.12:g.160040679G>A	ExAC,TOPMed,gnomAD
rs561986253	p.Gly480Arg	missense variant	-	NC_000006.12:g.160040682G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs763632350	p.Arg483Cys	missense variant	-	NC_000006.12:g.160040691C>T	ExAC,TOPMed,gnomAD
rs774499638	p.Arg483Leu	missense variant	-	NC_000006.12:g.160040692G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg483Pro	missense variant	-	NC_000006.12:g.160040692G>C	NCI-TCGA
rs774499638	p.Arg483His	missense variant	-	NC_000006.12:g.160040692G>A	ExAC,TOPMed,gnomAD
rs761828724	p.Tyr484Cys	missense variant	-	NC_000006.12:g.160040695A>G	ExAC,gnomAD
rs373662196	p.Ala488Val	missense variant	-	NC_000006.12:g.160040707C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val490Phe	missense variant	-	NC_000006.12:g.160040712G>T	NCI-TCGA
rs527878072	p.Arg491His	missense variant	-	NC_000006.12:g.160040716G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs766649241	p.Arg491Cys	missense variant	-	NC_000006.12:g.160040715C>T	ExAC,TOPMed,gnomAD
rs778946837	p.Ala493Gly	missense variant	-	NC_000006.12:g.160040722C>G	ExAC,gnomAD
rs778946837	p.Ala493Glu	missense variant	-	NC_000006.12:g.160040722C>A	ExAC,gnomAD
rs1369444521	p.Gln497Lys	missense variant	-	NC_000006.12:g.160043156C>A	TOPMed,gnomAD
rs1217203402	p.Gln497Arg	missense variant	-	NC_000006.12:g.160043157A>G	gnomAD
rs371868713	p.Asn498Ser	missense variant	-	NC_000006.12:g.160043160A>G	ESP,ExAC,TOPMed,gnomAD
rs1341611764	p.Ala501Thr	missense variant	-	NC_000006.12:g.160043168G>A	TOPMed
NCI-TCGA novel	p.Val502GlyPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.160043172T>-	NCI-TCGA
rs1347369237	p.Val502Leu	missense variant	-	NC_000006.12:g.160043171G>C	gnomAD
rs747686315	p.Gly504Ser	missense variant	-	NC_000006.12:g.160043177G>A	ExAC,gnomAD
rs375243560	p.Thr507Met	missense variant	-	NC_000006.12:g.160043187C>T	ESP,ExAC,TOPMed,gnomAD
rs1166039691	p.Thr509Ala	missense variant	-	NC_000006.12:g.160043192A>G	gnomAD
NCI-TCGA novel	p.Lys511Asn	missense variant	-	NC_000006.12:g.160043200G>T	NCI-TCGA
rs8191776	p.Lys512Gln	missense variant	-	NC_000006.12:g.160043201A>C	UniProt,dbSNP
VAR_021307	p.Lys512Gln	missense variant	-	NC_000006.12:g.160043201A>C	UniProt
rs8191776	p.Lys512Gln	missense variant	-	NC_000006.12:g.160043201A>C	ExAC,TOPMed,gnomAD
rs8191776	p.Lys512Ter	stop gained	-	NC_000006.12:g.160043201A>T	ExAC,TOPMed,gnomAD
rs932953205	p.His513Gln	missense variant	-	NC_000006.12:g.160043206T>A	TOPMed,gnomAD
rs776376615	p.His513Asp	missense variant	-	NC_000006.12:g.160043204C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe515Leu	missense variant	-	NC_000006.12:g.160043212C>A	NCI-TCGA
NCI-TCGA novel	p.Phe515SerPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.160043206T>-	NCI-TCGA
rs369207819	p.Ile516Phe	missense variant	-	NC_000006.12:g.160043213A>T	ESP,ExAC,gnomAD
rs369207819	p.Ile516Val	missense variant	-	NC_000006.12:g.160043213A>G	ESP,ExAC,gnomAD
rs1332409571	p.Asn517Tyr	missense variant	-	NC_000006.12:g.160043216A>T	gnomAD
rs1170137339	p.Asn517Ile	missense variant	-	NC_000006.12:g.160043217A>T	gnomAD
rs1170137339	p.Asn517Ser	missense variant	-	NC_000006.12:g.160043217A>G	gnomAD
rs1018895715	p.Ile518Phe	missense variant	-	NC_000006.12:g.160043219A>T	TOPMed,gnomAD
rs1018895715	p.Ile518Val	missense variant	-	NC_000006.12:g.160043219A>G	TOPMed,gnomAD
rs763098148	p.Arg521Lys	missense variant	-	NC_000006.12:g.160043229G>A	ExAC,TOPMed,gnomAD
rs764077065	p.Val522Ala	missense variant	-	NC_000006.12:g.160043232T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu525LysPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.160043239G>-	NCI-TCGA
rs1351477394	p.Gly526Asp	missense variant	-	NC_000006.12:g.160043244G>A	gnomAD
NCI-TCGA novel	p.Gly526ArgPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.160043242_160043245AGGC>-	NCI-TCGA
rs1434245065	p.Lys527Gln	missense variant	-	NC_000006.12:g.160043246A>C	gnomAD
rs6413489	p.Arg529Pro	missense variant	-	NC_000006.12:g.160043253G>C	ExAC,TOPMed,gnomAD
rs6413489	p.Arg529Leu	missense variant	-	NC_000006.12:g.160043253G>T	ExAC,TOPMed,gnomAD
rs6413489	p.Arg529Gln	missense variant	-	NC_000006.12:g.160043253G>A	NCI-TCGA
rs6413489	p.Arg529Gln	missense variant	-	NC_000006.12:g.160043253G>A	ExAC,TOPMed,gnomAD
rs778725774	p.Glu533Lys	missense variant	-	NC_000006.12:g.160043264G>A	ExAC,TOPMed,gnomAD
rs778725774	p.Glu533Lys	missense variant	-	NC_000006.12:g.160043264G>A	NCI-TCGA,NCI-TCGA Cosmic
rs778725774	p.Glu533Gln	missense variant	-	NC_000006.12:g.160043264G>C	ExAC,TOPMed,gnomAD
rs747739849	p.Asp534Ala	missense variant	-	NC_000006.12:g.160043268A>C	ExAC,TOPMed,gnomAD
rs149480671	p.Ala535Thr	missense variant	-	NC_000006.12:g.160043270G>A	1000Genomes,TOPMed
rs376518853	p.Ala535Val	missense variant	-	NC_000006.12:g.160043271C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala536Val	missense variant	-	NC_000006.12:g.160043274C>T	NCI-TCGA
COSM281870	p.Ala536Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160043273G>A	NCI-TCGA Cosmic
rs145066110	p.Val537Leu	missense variant	-	NC_000006.12:g.160043276G>C	ESP,ExAC,TOPMed,gnomAD
rs1190096573	p.Cys538Arg	missense variant	-	NC_000006.12:g.160043279T>C	gnomAD
rs1245756536	p.Ala539Thr	missense variant	-	NC_000006.12:g.160043282G>A	gnomAD
rs1216568497	p.Asp541Gly	missense variant	-	NC_000006.12:g.160044514A>G	TOPMed
rs1477086692	p.Lys542Thr	missense variant	-	NC_000006.12:g.160044517A>C	gnomAD
rs137988074	p.Asn543Ser	missense variant	-	NC_000006.12:g.160044520A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly544Val	missense variant	-	NC_000006.12:g.160044523G>T	NCI-TCGA
NCI-TCGA novel	p.Gly544Ter	stop gained	-	NC_000006.12:g.160044522G>T	NCI-TCGA
NCI-TCGA novel	p.Lys546Glu	missense variant	-	NC_000006.12:g.160044528A>G	NCI-TCGA
rs1473551824	p.Leu548Val	missense variant	-	NC_000006.12:g.160044534C>G	gnomAD
rs781112402	p.Phe551Leu	missense variant	-	NC_000006.12:g.160044543T>C	ExAC,gnomAD
rs745800031	p.Ile552Val	missense variant	-	NC_000006.12:g.160044546A>G	ExAC,gnomAD
rs1400305881	p.Ser554Phe	missense variant	-	NC_000006.12:g.160044553C>T	gnomAD
rs1400305881	p.Ser554Cys	missense variant	-	NC_000006.12:g.160044553C>G	gnomAD
rs1274632884	p.Pro555Leu	missense variant	-	NC_000006.12:g.160044556C>T	TOPMed
rs769636416	p.Met556Val	missense variant	-	NC_000006.12:g.160044558A>G	ExAC,TOPMed,gnomAD
rs769636416	p.Met556Leu	missense variant	-	NC_000006.12:g.160044558A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met556Thr	missense variant	-	NC_000006.12:g.160044559T>C	NCI-TCGA
rs749567352	p.Met556Arg	missense variant	-	NC_000006.12:g.160044559T>G	ExAC,gnomAD
rs768792641	p.Lys557Arg	missense variant	-	NC_000006.12:g.160044562A>G	ExAC,gnomAD
rs775918067	p.Ile562Val	missense variant	-	NC_000006.12:g.160044576A>G	TOPMed,gnomAD
rs761815480	p.Leu564Val	missense variant	-	NC_000006.12:g.160044582C>G	ExAC,TOPMed,gnomAD
rs761815480	p.Leu564Phe	missense variant	-	NC_000006.12:g.160044582C>T	ExAC,TOPMed,gnomAD
rs761237849	p.Ser565Phe	missense variant	-	NC_000006.12:g.160044586C>T	ExAC,gnomAD
rs1423961979	p.Tyr566His	missense variant	-	NC_000006.12:g.160044588T>C	TOPMed
COSM483638	p.Ser567Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160044591T>G	NCI-TCGA Cosmic
rs1189084939	p.Asp568Val	missense variant	-	NC_000006.12:g.160044595A>T	TOPMed
rs1481332808	p.Gly569Asp	missense variant	-	NC_000006.12:g.160044598G>A	TOPMed
rs372656081	p.Asp571Glu	missense variant	-	NC_000006.12:g.160044605T>A	ESP,ExAC,TOPMed,gnomAD
rs754182952	p.Gly573Ser	missense variant	-	NC_000006.12:g.160044609G>A	ExAC,TOPMed,gnomAD
rs1251939390	p.His574Pro	missense variant	-	NC_000006.12:g.160044613A>C	gnomAD
rs1483980943	p.Gly575Arg	missense variant	-	NC_000006.12:g.160044615G>C	gnomAD
rs763665662	p.Lys577Gln	missense variant	-	NC_000006.12:g.160044621A>C	ExAC,gnomAD
rs751155185	p.Thr580Ser	missense variant	-	NC_000006.12:g.160044631C>G	ExAC,gnomAD
rs756827708	p.Asn581Ser	missense variant	-	NC_000006.12:g.160044634A>G	ExAC,gnomAD
rs745855300	p.Ile582Thr	missense variant	-	NC_000006.12:g.160044637T>C	ExAC,gnomAD
rs780666882	p.Ile582Val	missense variant	-	NC_000006.12:g.160044636A>G	ExAC,gnomAD
rs756014858	p.Leu584Phe	missense variant	-	NC_000006.12:g.160044642C>T	ExAC,gnomAD
rs1371290245	p.Pro588Leu	missense variant	-	NC_000006.12:g.160044655C>T	gnomAD
rs1405922524	p.Asp590Val	missense variant	-	NC_000006.12:g.160045748A>T	TOPMed
rs1417183899	p.Asp590His	missense variant	-	NC_000006.12:g.160045747G>C	TOPMed
rs1178956570	p.Leu591Val	missense variant	-	NC_000006.12:g.160045750C>G	TOPMed
rs1439698917	p.Ser593Thr	missense variant	-	NC_000006.12:g.160045757G>C	gnomAD
rs1343867966	p.Ala594Thr	missense variant	-	NC_000006.12:g.160045759G>A	TOPMed,gnomAD
rs1462975063	p.Leu597Phe	missense variant	-	NC_000006.12:g.160045770G>C	TOPMed
rs1250300025	p.Arg598Lys	missense variant	-	NC_000006.12:g.160045772G>A	gnomAD
rs1356901266	p.Ser600Phe	missense variant	-	NC_000006.12:g.160045778C>T	gnomAD
rs1356901266	p.Ser600Cys	missense variant	-	NC_000006.12:g.160045778C>G	gnomAD
rs1256911159	p.Gly601Glu	missense variant	-	NC_000006.12:g.160045781G>A	TOPMed
rs1397955446	p.Glu602Gly	missense variant	-	NC_000006.12:g.160045784A>G	gnomAD
rs779871119	p.Gly603Cys	missense variant	-	NC_000006.12:g.160045786G>T	ExAC,gnomAD
rs748416838	p.Gly604Ala	missense variant	-	NC_000006.12:g.160045790G>C	ExAC,gnomAD
rs748416838	p.Gly604Val	missense variant	-	NC_000006.12:g.160045790G>T	ExAC,gnomAD
rs8191797	p.Gly604Ser	missense variant	-	NC_000006.12:g.160045789G>A	ESP,ExAC,TOPMed,gnomAD
rs8191797	p.Gly604Ser	missense variant	-	NC_000006.12:g.160045789G>A	UniProt,dbSNP
VAR_020473	p.Gly604Ser	missense variant	-	NC_000006.12:g.160045789G>A	UniProt
NCI-TCGA novel	p.Cys605Ser	missense variant	-	NC_000006.12:g.160045792T>A	NCI-TCGA
NCI-TCGA novel	p.Tyr607LeuPheSerTerUnk	frameshift	-	NC_000006.12:g.160045794_160045795insT	NCI-TCGA
rs778089919	p.Glu610Gln	missense variant	-	NC_000006.12:g.160045807G>C	ExAC,TOPMed,gnomAD
rs1372630066	p.His612Gln	missense variant	-	NC_000006.12:g.160045815C>G	gnomAD
rs770975694	p.Ala614Val	missense variant	-	NC_000006.12:g.160045820C>T	ExAC,gnomAD
rs1392718372	p.Ala615Val	missense variant	-	NC_000006.12:g.160045823C>T	TOPMed,gnomAD
rs1392718372	p.Ala615Val	missense variant	-	NC_000006.12:g.160045823C>T	NCI-TCGA
rs199887623	p.Ala616Gly	missense variant	-	NC_000006.12:g.160045826C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs775893163	p.Ala616Pro	missense variant	-	NC_000006.12:g.160045825G>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys621Asn	missense variant	-	NC_000006.12:g.160045842G>T	NCI-TCGA
rs1288029582	p.Gly624Glu	missense variant	-	NC_000006.12:g.160045850G>A	TOPMed
rs767179912	p.Gly624Trp	missense variant	-	NC_000006.12:g.160045849G>T	ExAC,gnomAD
COSM4854507	p.Glu625Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160045854G>C	NCI-TCGA Cosmic
COSM6105729	p.Asn626Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160045857C>G	NCI-TCGA Cosmic
rs1346954194	p.Asn626Ser	missense variant	-	NC_000006.12:g.160045856A>G	TOPMed
rs144416773	p.Thr628Met	missense variant	-	NC_000006.12:g.160045862C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139477448	p.Ser632Cys	missense variant	-	NC_000006.12:g.160045874C>G	ESP,ExAC,TOPMed,gnomAD
rs776232495	p.Phe636Leu	missense variant	-	NC_000006.12:g.160046500T>C	ExAC,TOPMed,gnomAD
rs1213057841	p.Phe636Cys	missense variant	-	NC_000006.12:g.160046501T>G	TOPMed,gnomAD
COSM1441948	p.Ser637Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160046504C>A	NCI-TCGA Cosmic
rs758918651	p.Ser641Pro	missense variant	-	NC_000006.12:g.160046515T>C	ExAC,TOPMed,gnomAD
rs200122731	p.Pro642Ala	missense variant	-	NC_000006.12:g.160046518C>G	1000Genomes,ExAC,gnomAD
rs200122731	p.Pro642Ser	missense variant	-	NC_000006.12:g.160046518C>T	1000Genomes,ExAC,gnomAD
rs1410614111	p.Thr644Lys	missense variant	-	NC_000006.12:g.160046525C>A	gnomAD
NCI-TCGA novel	p.Lys645Asn	missense variant	-	NC_000006.12:g.160046529G>T	NCI-TCGA
rs758332818	p.Lys646Arg	missense variant	-	NC_000006.12:g.160046531A>G	ExAC,TOPMed,gnomAD
rs763966122	p.Asn647Ser	missense variant	-	NC_000006.12:g.160046534A>G	ExAC,gnomAD
rs757470554	p.Gly648Val	missense variant	-	NC_000006.12:g.160046537G>T	ExAC,TOPMed,gnomAD
rs757470554	p.Gly648Asp	missense variant	-	NC_000006.12:g.160046537G>A	ExAC,TOPMed,gnomAD
rs781232497	p.Ala649Val	missense variant	-	NC_000006.12:g.160046540C>T	ExAC,gnomAD
rs572302787	p.Tyr650Cys	missense variant	-	NC_000006.12:g.160046543A>G	1000Genomes,ExAC,gnomAD
rs754736133	p.Lys651Glu	missense variant	-	NC_000006.12:g.160046545A>G	ExAC,TOPMed,gnomAD
rs202075954	p.Val652Phe	missense variant	-	NC_000006.12:g.160046548G>T	1000Genomes,ExAC,gnomAD
rs749794031	p.Val652Ala	missense variant	-	NC_000006.12:g.160046549T>C	ExAC,TOPMed,gnomAD
rs769069565	p.Thr654Ala	missense variant	-	NC_000006.12:g.160046554A>G	ExAC,TOPMed,gnomAD
COSM4414515	p.Lys656Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160046562G>C	NCI-TCGA Cosmic
COSM275544	p.Tyr657Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160046563T>G	NCI-TCGA Cosmic
rs1234452122	p.Asp658Asn	missense variant	-	NC_000006.12:g.160046566G>A	gnomAD
rs1319998078	p.Phe659Leu	missense variant	-	NC_000006.12:g.160046571T>G	TOPMed
rs945752438	p.Tyr660His	missense variant	-	NC_000006.12:g.160046572T>C	TOPMed
rs770634655	p.Tyr660Phe	missense variant	-	NC_000006.12:g.160046573A>T	ExAC,gnomAD
rs1229085860	p.Val663Leu	missense variant	-	NC_000006.12:g.160046581G>T	TOPMed
rs138451686	p.Pro666Leu	missense variant	-	NC_000006.12:g.160046591C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1276651264	p.Val667Ala	missense variant	-	NC_000006.12:g.160046594T>C	TOPMed
rs764832815	p.Val667Leu	missense variant	-	NC_000006.12:g.160046593G>T	ExAC,gnomAD
rs545812110	p.Val669Leu	missense variant	-	NC_000006.12:g.160046599G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1268560139	p.Val669Gly	missense variant	-	NC_000006.12:g.160046600T>G	gnomAD
rs762960811	p.Ser670Asn	missense variant	-	NC_000006.12:g.160046603G>A	ExAC,gnomAD
rs762960811	p.Ser670Thr	missense variant	-	NC_000006.12:g.160046603G>C	ExAC,gnomAD
rs147174872	p.Asp675His	missense variant	-	NC_000006.12:g.160046617G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser676Ter	stop gained	-	NC_000006.12:g.160046621C>G	NCI-TCGA
rs1402633090	p.Gly677Glu	missense variant	-	NC_000006.12:g.160046624G>A	TOPMed
rs201536836	p.Ala678Gly	missense variant	-	NC_000006.12:g.160046627C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs201536836	p.Ala678Asp	missense variant	-	NC_000006.12:g.160046627C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln680His	missense variant	-	NC_000006.12:g.160046634G>T	NCI-TCGA
rs767795774	p.Val681Leu	missense variant	-	NC_000006.12:g.160046635G>C	ExAC,gnomAD
rs750546905	p.Lys683Glu	missense variant	-	NC_000006.12:g.160046641A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser684ValPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.160046640A>-	NCI-TCGA
rs767214007	p.Ser684Arg	missense variant	-	NC_000006.12:g.160047159T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu686Gly	missense variant	-	NC_000006.12:g.160047164A>G	NCI-TCGA
rs760868208	p.Leu691Val	missense variant	-	NC_000006.12:g.160047178T>G	ExAC,gnomAD
rs1271975009	p.Gly692Asp	missense variant	-	NC_000006.12:g.160047182G>A	gnomAD
rs753954520	p.Asn695Asp	missense variant	-	NC_000006.12:g.160047190A>G	ExAC,gnomAD
rs754988891	p.Ala696Val	missense variant	-	NC_000006.12:g.160047194C>T	ExAC,TOPMed,gnomAD
rs1212162904	p.Ser699Pro	missense variant	-	NC_000006.12:g.160047202T>C	gnomAD
rs184993631	p.Tyr700Cys	missense variant	-	NC_000006.12:g.160047206A>G	1000Genomes,TOPMed,gnomAD
rs1465048288	p.Tyr700His	missense variant	-	NC_000006.12:g.160047205T>C	gnomAD
rs758866315	p.Tyr701Cys	missense variant	-	NC_000006.12:g.160047209A>G	ExAC
rs777970108	p.Gly703Glu	missense variant	-	NC_000006.12:g.160047215G>A	ExAC,TOPMed,gnomAD
rs745584305	p.Gln706His	missense variant	-	NC_000006.12:g.160047225A>C	ExAC,TOPMed,gnomAD
rs779812734	p.Tyr709Cys	missense variant	-	NC_000006.12:g.160047233A>G	ExAC,gnomAD
rs748811238	p.Gly711Ser	missense variant	-	NC_000006.12:g.160047238G>A	ExAC,gnomAD
rs774403150	p.Gly712Ser	missense variant	-	NC_000006.12:g.160047241G>A	ExAC,TOPMed,gnomAD
rs1430021770	p.Thr713Ile	missense variant	-	NC_000006.12:g.160047245C>T	NCI-TCGA Cosmic
rs547601296	p.Thr713Ala	missense variant	-	NC_000006.12:g.160047244A>G	1000Genomes,ExAC,gnomAD
rs1430021770	p.Thr713Ile	missense variant	-	NC_000006.12:g.160047245C>T	gnomAD
rs1391803908	p.Tyr715Cys	missense variant	-	NC_000006.12:g.160047251A>G	TOPMed
rs766597081	p.Asn716Ser	missense variant	-	NC_000006.12:g.160047254A>G	ExAC,gnomAD
rs151323353	p.Arg719Thr	missense variant	-	NC_000006.12:g.160047263G>C	ESP,ExAC,TOPMed,gnomAD
rs370316128	p.His720Arg	missense variant	-	NC_000006.12:g.160047266A>G	ESP,ExAC,TOPMed,gnomAD
rs140582388	p.Pro722Leu	missense variant	-	NC_000006.12:g.160047272C>T	ESP,ExAC,TOPMed,gnomAD
rs764614349	p.Pro722Ala	missense variant	-	NC_000006.12:g.160047271C>G	ExAC,gnomAD
rs779865617	p.Arg723Lys	missense variant	-	NC_000006.12:g.160047275G>A	ExAC,TOPMed,gnomAD
rs779865617	p.Arg723Thr	missense variant	-	NC_000006.12:g.160047275G>C	ExAC,TOPMed,gnomAD
rs6413491	p.Ala724Thr	missense variant	-	NC_000006.12:g.160047277G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs6413491	p.Ala724Pro	missense variant	-	NC_000006.12:g.160047277G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala724Gly	missense variant	-	NC_000006.12:g.160047278C>G	NCI-TCGA
rs6413491	p.Ala724Ser	missense variant	-	NC_000006.12:g.160047277G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs549860218	p.Thr725Met	missense variant	-	NC_000006.12:g.160047281C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1406009422	p.Leu726Phe	missense variant	-	NC_000006.12:g.160047283C>T	gnomAD
rs1458941715	p.Ile727Val	missense variant	-	NC_000006.12:g.160047286A>G	TOPMed
rs1258419770	p.Thr728Pro	missense variant	-	NC_000006.12:g.160047289A>C	TOPMed
rs1202961575	p.Thr728Asn	missense variant	-	NC_000006.12:g.160047290C>A	TOPMed
rs201939968	p.Leu730Val	missense variant	-	NC_000006.12:g.160047295C>G	gnomAD
rs201939968	p.Leu730Phe	missense variant	-	NC_000006.12:g.160047295C>T	gnomAD
rs1374035109	p.Arg733Gln	missense variant	-	NC_000006.12:g.160047305G>A	TOPMed,gnomAD
rs1174312901	p.Arg733Ter	stop gained	-	NC_000006.12:g.160047304C>T	gnomAD
NCI-TCGA novel	p.Asp734ArgPheSerTerUnk	frameshift	-	NC_000006.12:g.160047305_160047306insT	NCI-TCGA
rs766058744	p.Ala735Val	missense variant	-	NC_000006.12:g.160047311C>T	NCI-TCGA,NCI-TCGA Cosmic
rs762519931	p.Ala735Thr	missense variant	-	NC_000006.12:g.160047310G>A	NCI-TCGA
rs766058744	p.Ala735Val	missense variant	-	NC_000006.12:g.160047311C>T	ExAC,TOPMed,gnomAD
rs762519931	p.Ala735Thr	missense variant	-	NC_000006.12:g.160047310G>A	ExAC,TOPMed,gnomAD
rs1278169341	p.Val737Gly	missense variant	-	NC_000006.12:g.160047317T>G	gnomAD
COSM6173006	p.Gly738Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160047319G>T	NCI-TCGA Cosmic
rs1349476230	p.Pro740Leu	missense variant	-	NC_000006.12:g.160047326C>T	gnomAD
NCI-TCGA novel	p.Tyr742Cys	missense variant	-	NC_000006.12:g.160047332A>G	NCI-TCGA
rs1180963771	p.Glu744Gly	missense variant	-	NC_000006.12:g.160047793A>G	TOPMed
rs576235325	p.Asp746His	missense variant	-	NC_000006.12:g.160047798G>C	1000Genomes,ExAC,gnomAD
rs972146805	p.Tyr750Phe	missense variant	-	NC_000006.12:g.160047811A>T	TOPMed
rs768041177	p.Asn751Ser	missense variant	-	NC_000006.12:g.160047814A>G	ExAC,gnomAD
rs768041177	p.Asn751Thr	missense variant	-	NC_000006.12:g.160047814A>C	ExAC,gnomAD
rs762376489	p.Asn751Asp	missense variant	-	NC_000006.12:g.160047813A>G	ExAC,gnomAD
rs750837008	p.Phe752Leu	missense variant	-	NC_000006.12:g.160047818C>G	ExAC,gnomAD
NCI-TCGA novel	p.Arg753GlyPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.160047818C>-	NCI-TCGA
NCI-TCGA novel	p.Arg753Leu	missense variant	-	NC_000006.12:g.160047820G>T	NCI-TCGA
rs146539241	p.Arg753Trp	missense variant	-	NC_000006.12:g.160047819C>T	ESP,ExAC,TOPMed,gnomAD
rs146539241	p.Arg753Trp	missense variant	-	NC_000006.12:g.160047819C>T	NCI-TCGA,NCI-TCGA Cosmic
rs141234361	p.Arg753Gln	missense variant	-	NC_000006.12:g.160047820G>A	ESP,ExAC,TOPMed,gnomAD
rs1439764235	p.Tyr755His	missense variant	-	NC_000006.12:g.160047825T>C	gnomAD
COSM1441949	p.Tyr755Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.160047827C>A	NCI-TCGA Cosmic
rs757916334	p.Tyr755Phe	missense variant	-	NC_000006.12:g.160047826A>T	ExAC,TOPMed,gnomAD
rs757916334	p.Tyr755Cys	missense variant	-	NC_000006.12:g.160047826A>G	ExAC,TOPMed,gnomAD
rs1185482261	p.Tyr758Cys	missense variant	-	NC_000006.12:g.160047835A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ala759Thr	missense variant	-	NC_000006.12:g.160047837G>A	NCI-TCGA
rs1225134287	p.Ala759Ser	missense variant	-	NC_000006.12:g.160047837G>T	gnomAD
rs201251256	p.Pro761Gln	missense variant	-	NC_000006.12:g.160047844C>A	NCI-TCGA
NCI-TCGA novel	p.Pro761Thr	missense variant	-	NC_000006.12:g.160047843C>A	NCI-TCGA
rs201251256	p.Pro761Arg	missense variant	-	NC_000006.12:g.160047844C>G	ExAC,TOPMed,gnomAD
rs201251256	p.Pro761Leu	missense variant	-	NC_000006.12:g.160047844C>T	ExAC,TOPMed,gnomAD
rs201251256	p.Pro761Gln	missense variant	-	NC_000006.12:g.160047844C>A	ExAC,TOPMed,gnomAD
rs373008966	p.Glu763Gln	missense variant	-	NC_000006.12:g.160047849G>C	ESP,ExAC,TOPMed,gnomAD
rs373008966	p.Glu763Lys	missense variant	-	NC_000006.12:g.160047849G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro764His	missense variant	-	NC_000006.12:g.160047853C>A	NCI-TCGA
rs969749491	p.Pro764Thr	missense variant	-	NC_000006.12:g.160047852C>A	TOPMed
rs969749491	p.Pro764Ala	missense variant	-	NC_000006.12:g.160047852C>G	TOPMed
rs969749491	p.Pro764Ser	missense variant	-	NC_000006.12:g.160047852C>T	TOPMed
rs200311686	p.Cys767Trp	missense variant	-	NC_000006.12:g.160047863C>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys767Tyr	missense variant	-	NC_000006.12:g.160047862G>A	NCI-TCGA
rs749520429	p.Val768Ala	missense variant	-	NC_000006.12:g.160047865T>C	ExAC,gnomAD
NCI-TCGA novel	p.Val768Glu	missense variant	-	NC_000006.12:g.160047865T>A	NCI-TCGA
rs780198115	p.Val768Ile	missense variant	-	NC_000006.12:g.160047864G>A	ExAC,TOPMed,gnomAD
rs1461079755	p.Asp771Glu	missense variant	-	NC_000006.12:g.160047875C>A	gnomAD
rs77985420	p.Pro772Ser	missense variant	-	NC_000006.12:g.160047876C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1423491119	p.Pro772Leu	missense variant	-	NC_000006.12:g.160047877C>T	gnomAD
rs761932623	p.Ser773Pro	missense variant	-	NC_000006.12:g.160047879T>C	ExAC,gnomAD
rs773784277	p.Thr774Ala	missense variant	-	NC_000006.12:g.160047882A>G	ExAC,gnomAD
rs202147312	p.Thr774Met	missense variant	-	NC_000006.12:g.160047883C>T	ExAC,TOPMed,gnomAD
rs1393955697	p.Glu776Asp	missense variant	-	NC_000006.12:g.160047890G>C	TOPMed,gnomAD
rs1386698425	p.Asp779Asn	missense variant	-	NC_000006.12:g.160047897G>A	gnomAD
rs1386698425	p.Asp779Asn	missense variant	-	NC_000006.12:g.160047897G>A	NCI-TCGA Cosmic
rs1379957471	p.Ser782Gly	missense variant	-	NC_000006.12:g.160047906A>G	gnomAD
rs1285638277	p.Lys785Gln	missense variant	-	NC_000006.12:g.160048382A>C	TOPMed
rs1318938303	p.Ser786Tyr	missense variant	-	NC_000006.12:g.160048386C>A	gnomAD
rs1237202677	p.Leu790Phe	missense variant	-	NC_000006.12:g.160048397C>T	gnomAD
NCI-TCGA novel	p.Gly792Arg	missense variant	-	NC_000006.12:g.160048403G>A	NCI-TCGA
rs1348760257	p.Asn793Lys	missense variant	-	NC_000006.12:g.160048408C>G	gnomAD
rs1213127240	p.Met797Val	missense variant	-	NC_000006.12:g.160048418A>G	gnomAD
rs777079679	p.Met797Thr	missense variant	-	NC_000006.12:g.160048419T>C	ExAC,TOPMed,gnomAD
rs1483225969	p.Asp798Gly	missense variant	-	NC_000006.12:g.160048422A>G	gnomAD
rs759780133	p.Asp798Glu	missense variant	-	NC_000006.12:g.160048423C>A	ExAC,TOPMed,gnomAD
rs1244497922	p.Ser800Thr	missense variant	-	NC_000006.12:g.160048427T>A	TOPMed
rs567853736	p.His803Arg	missense variant	-	NC_000006.12:g.160048437A>G	1000Genomes,ExAC,gnomAD
rs1177687691	p.Val804Ile	missense variant	-	NC_000006.12:g.160048439G>A	gnomAD
rs141420320	p.Thr805Met	missense variant	-	NC_000006.12:g.160048443C>T	NCI-TCGA
rs141420320	p.Thr805Arg	missense variant	-	NC_000006.12:g.160048443C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141420320	p.Thr805Lys	missense variant	-	NC_000006.12:g.160048443C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141420320	p.Thr805Met	missense variant	-	NC_000006.12:g.160048443C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766175962	p.Arg807Lys	missense variant	-	NC_000006.12:g.160048449G>A	ExAC,gnomAD
rs377727413	p.Val813Met	missense variant	-	NC_000006.12:g.160048466G>A	ESP,ExAC,TOPMed,gnomAD
rs779287831	p.Arg815Gln	missense variant	-	NC_000006.12:g.160048473G>A	NCI-TCGA
rs779287831	p.Arg815Gln	missense variant	-	NC_000006.12:g.160048473G>A	ExAC,gnomAD
rs758595806	p.Pro816Leu	missense variant	-	NC_000006.12:g.160048476C>T	ExAC,gnomAD
rs748380169	p.Pro816Ser	missense variant	-	NC_000006.12:g.160048475C>T	ExAC,TOPMed,gnomAD
rs8191808	p.Leu817Val	missense variant	-	NC_000006.12:g.160048478C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs8191808	p.Leu817Val	missense variant	-	NC_000006.12:g.160048478C>G	UniProt,dbSNP
VAR_021308	p.Leu817Val	missense variant	-	NC_000006.12:g.160048478C>G	UniProt
rs747014235	p.Asn818Tyr	missense variant	-	NC_000006.12:g.160048481A>T	ExAC,gnomAD
rs771501337	p.Pro819Ser	missense variant	-	NC_000006.12:g.160048484C>T	ExAC,gnomAD
rs1312101321	p.Val820Leu	missense variant	-	NC_000006.12:g.160048487G>C	gnomAD
rs150801390	p.Pro821Leu	missense variant	-	NC_000006.12:g.160048491C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1162497382	p.Pro821Ser	missense variant	-	NC_000006.12:g.160048490C>T	TOPMed
rs774057008	p.Gly822Ala	missense variant	-	NC_000006.12:g.160048494G>C	ExAC,gnomAD
rs1188540549	p.Gly822Ser	missense variant	-	NC_000006.12:g.160048493G>A	TOPMed
rs774057008	p.Gly822Val	missense variant	-	NC_000006.12:g.160048494G>T	ExAC,gnomAD
rs553744228	p.Asn824Lys	missense variant	-	NC_000006.12:g.160048501C>G	ExAC,gnomAD
rs370843412	p.Asn824Ser	missense variant	-	NC_000006.12:g.160048500A>G	ESP,ExAC,TOPMed,gnomAD
rs137887848	p.Arg825Gln	missense variant	-	NC_000006.12:g.160048503G>A	ESP,ExAC,TOPMed,gnomAD
rs201793317	p.Arg825Ter	stop gained	-	NC_000006.12:g.160048502C>T	TOPMed
rs186491261	p.Tyr826His	missense variant	-	NC_000006.12:g.160048505T>C	1000Genomes,ExAC,gnomAD
rs754874300	p.Tyr826Cys	missense variant	-	NC_000006.12:g.160048506A>G	ExAC,gnomAD
rs577548757	p.Ser828Leu	missense variant	-	NC_000006.12:g.160048512C>T	NCI-TCGA
rs577548757	p.Ser828Leu	missense variant	-	NC_000006.12:g.160048512C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs74530274	p.Cys830Phe	missense variant	-	NC_000006.12:g.160048518G>T	ExAC,gnomAD
rs1273120818	p.Gln831His	missense variant	-	NC_000006.12:g.160048522G>C	gnomAD
rs757228085	p.Met832Thr	missense variant	-	NC_000006.12:g.160048524T>C	ExAC,gnomAD
rs1215255687	p.Tyr834Cys	missense variant	-	NC_000006.12:g.160048530A>G	gnomAD
NCI-TCGA novel	p.Glu835Gln	missense variant	-	NC_000006.12:g.160048532G>C	NCI-TCGA
rs1298288294	p.Glu835Ala	missense variant	-	NC_000006.12:g.160048533A>C	gnomAD
rs1298288294	p.Glu835Gly	missense variant	-	NC_000006.12:g.160048533A>G	gnomAD
rs1306302735	p.Lys836Arg	missense variant	-	NC_000006.12:g.160048536A>G	gnomAD
COSM4931618	p.Asp837Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160048539A>G	NCI-TCGA Cosmic
rs1295675297	p.Asp837His	missense variant	-	NC_000006.12:g.160048538G>C	TOPMed
rs1295675297	p.Asp837Tyr	missense variant	-	NC_000006.12:g.160048538G>T	TOPMed
rs1218356059	p.Gln838Arg	missense variant	-	NC_000006.12:g.160048542A>G	gnomAD
rs1234390104	p.Gln838Lys	missense variant	-	NC_000006.12:g.160048541C>A	TOPMed
rs765219202	p.Gly839Cys	missense variant	-	NC_000006.12:g.160050473G>T	ExAC
rs1474064627	p.Phe841Val	missense variant	-	NC_000006.12:g.160050479T>G	gnomAD
rs1162464204	p.Thr842Ala	missense variant	-	NC_000006.12:g.160050482A>G	gnomAD
rs1411636595	p.Glu843Asp	missense variant	-	NC_000006.12:g.160050487A>C	TOPMed
rs762770473	p.Val844Met	missense variant	-	NC_000006.12:g.160050488G>A	ExAC,gnomAD
rs939293106	p.Ile847Val	missense variant	-	NC_000006.12:g.160050497A>G	TOPMed,gnomAD
rs939293106	p.Ile847Phe	missense variant	-	NC_000006.12:g.160050497A>T	TOPMed,gnomAD
rs201063267	p.Asn849Ser	missense variant	-	NC_000006.12:g.160050504A>G	1000Genomes,TOPMed
rs751718234	p.Leu850Ser	missense variant	-	NC_000006.12:g.160050507T>C	ExAC,gnomAD
rs757425688	p.Met852Thr	missense variant	-	NC_000006.12:g.160050513T>C	ExAC,gnomAD
rs781099560	p.Met852Ile	missense variant	-	NC_000006.12:g.160050514G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala853Thr	missense variant	-	NC_000006.12:g.160050515G>A	NCI-TCGA
rs1249219676	p.Ala853Gly	missense variant	-	NC_000006.12:g.160050516C>G	TOPMed
COSM281871	p.Lys854Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160050519A>C	NCI-TCGA Cosmic
rs538794505	p.Thr855Ile	missense variant	-	NC_000006.12:g.160050522C>T	1000Genomes,ExAC,gnomAD
rs8191819	p.Gly856Arg	missense variant	-	NC_000006.12:g.160050524G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1022077229	p.Gly856Asp	missense variant	-	NC_000006.12:g.160050525G>A	TOPMed
rs8191819	p.Gly856Ser	missense variant	-	NC_000006.12:g.160050524G>A	UniProt,dbSNP
VAR_020475	p.Gly856Ser	missense variant	-	NC_000006.12:g.160050524G>A	UniProt
rs8191819	p.Gly856Ser	missense variant	-	NC_000006.12:g.160050524G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370610400	p.Pro857Leu	missense variant	-	NC_000006.12:g.160050528C>T	ESP,ExAC,TOPMed,gnomAD
rs1034699470	p.Val858Met	missense variant	-	NC_000006.12:g.160050530G>A	TOPMed,gnomAD
rs746633948	p.Ser862Asn	missense variant	-	NC_000006.12:g.160050543G>A	ExAC,gnomAD
rs555046308	p.Gly863Asp	missense variant	-	NC_000006.12:g.160050546G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs776307638	p.Gly863Ser	missense variant	-	NC_000006.12:g.160050545G>A	ExAC,TOPMed,gnomAD
rs769861600	p.Ser864Thr	missense variant	-	NC_000006.12:g.160050549G>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu866Phe	missense variant	-	NC_000006.12:g.160050554C>T	NCI-TCGA
rs192620654	p.Leu866Ile	missense variant	-	NC_000006.12:g.160050554C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu868Asp	missense variant	-	NC_000006.12:g.160050562A>C	NCI-TCGA
rs1179226963	p.Tyr869Cys	missense variant	-	NC_000006.12:g.160050564A>G	gnomAD
rs763792356	p.Val870Met	missense variant	-	NC_000006.12:g.160050566G>A	ExAC,TOPMed,gnomAD
rs145137003	p.Val870Glu	missense variant	-	NC_000006.12:g.160050567T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199514599	p.Ser873Leu	missense variant	-	NC_000006.12:g.160050576C>T	ESP,TOPMed,gnomAD
rs199514599	p.Ser873Leu	missense variant	-	NC_000006.12:g.160050576C>T	NCI-TCGA
rs200666137	p.Ala874Thr	missense variant	-	NC_000006.12:g.160050578G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1015854762	p.Ala874Val	missense variant	-	NC_000006.12:g.160050579C>T	TOPMed,gnomAD
rs974270653	p.Thr876Ile	missense variant	-	NC_000006.12:g.160050585C>T	TOPMed
rs370156844	p.Ser878Gly	missense variant	-	NC_000006.12:g.160050590A>G	ESP,ExAC,TOPMed,gnomAD
rs546014721	p.Ser878Thr	missense variant	-	NC_000006.12:g.160050591G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs546014721	p.Ser878Asn	missense variant	-	NC_000006.12:g.160050591G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs755433857	p.Ser878Arg	missense variant	-	NC_000006.12:g.160050592C>G	ExAC,TOPMed,gnomAD
rs779127608	p.Asp879Asn	missense variant	-	NC_000006.12:g.160050593G>A	NCI-TCGA,NCI-TCGA Cosmic
rs779127608	p.Asp879Asn	missense variant	-	NC_000006.12:g.160050593G>A	ExAC,TOPMed,gnomAD
rs1199865335	p.Gly880Ser	missense variant	-	NC_000006.12:g.160050596G>A	gnomAD
rs1439276520	p.Arg881Gly	missense variant	-	NC_000006.12:g.160050599A>G	gnomAD
rs756892830	p.Thr884Ala	missense variant	-	NC_000006.12:g.160050608A>G	ExAC
rs745385220	p.Thr886Ile	missense variant	-	NC_000006.12:g.160050615C>T	ExAC,gnomAD
rs745385220	p.Thr886Asn	missense variant	-	NC_000006.12:g.160050615C>A	ExAC,gnomAD
rs752875889	p.Thr887Met	missense variant	-	NC_000006.12:g.160050618C>T	NCI-TCGA
rs752875889	p.Thr887Met	missense variant	-	NC_000006.12:g.160050618C>T	ExAC,TOPMed,gnomAD
rs374454730	p.Ile889Leu	missense variant	-	NC_000006.12:g.160050623A>C	ESP,ExAC,gnomAD
rs368684078	p.His890Tyr	missense variant	-	NC_000006.12:g.160050626C>T	ESP,ExAC,TOPMed,gnomAD
rs372347541	p.Val892Ile	missense variant	-	NC_000006.12:g.160050632G>A	ESP,ExAC,TOPMed,gnomAD
rs372347541	p.Val892Phe	missense variant	-	NC_000006.12:g.160050632G>T	ESP,ExAC,TOPMed,gnomAD
rs781554746	p.Ser894Pro	missense variant	-	NC_000006.12:g.160050638T>C	gnomAD
rs766438991	p.Arg895Lys	missense variant	-	NC_000006.12:g.160050642G>A	ExAC,gnomAD
rs146646011	p.Arg895Ser	missense variant	-	NC_000006.12:g.160050643G>T	ESP,ExAC,TOPMed,gnomAD
rs1173449807	p.Gly896Asp	missense variant	-	NC_000006.12:g.160050645G>A	TOPMed
rs375624444	p.Arg897Ser	missense variant	-	NC_000006.12:g.160050649G>C	ESP,ExAC,gnomAD
rs1413098882	p.Arg897Met	missense variant	-	NC_000006.12:g.160050648G>T	TOPMed
rs766542129	p.Asn899Ser	missense variant	-	NC_000006.12:g.160056425A>G	ExAC,gnomAD
rs1215752101	p.Pro902Arg	missense variant	-	NC_000006.12:g.160056434C>G	TOPMed
rs560301920	p.Ile903Val	missense variant	-	NC_000006.12:g.160056436A>G	1000Genomes,ExAC,gnomAD
rs1336004363	p.Phe904Leu	missense variant	-	NC_000006.12:g.160056439T>C	TOPMed
rs376558845	p.Leu906Phe	missense variant	-	NC_000006.12:g.160056445C>T	ESP,ExAC,TOPMed,gnomAD
rs376558845	p.Leu906Val	missense variant	-	NC_000006.12:g.160056445C>G	ESP,ExAC,TOPMed,gnomAD
rs368664310	p.Asn907Lys	missense variant	-	NC_000006.12:g.160056450C>A	ESP,ExAC,TOPMed,gnomAD
COSM3622477	p.Cys910Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160056457T>C	NCI-TCGA Cosmic
COSM6105728	p.Trp916Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.160056477G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn917Asp	missense variant	-	NC_000006.12:g.160056478A>G	NCI-TCGA
rs1391626212	p.Ala921Val	missense variant	-	NC_000006.12:g.160056491C>T	TOPMed
rs1457140363	p.Ile924Val	missense variant	-	NC_000006.12:g.160056499A>G	gnomAD
NCI-TCGA novel	p.Gln925Ter	stop gained	-	NC_000006.12:g.160056502C>T	NCI-TCGA
COSM741319	p.Gln925Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160056502C>G	NCI-TCGA Cosmic
rs779810760	p.Thr927Arg	missense variant	-	NC_000006.12:g.160056509C>G	ExAC,gnomAD
rs779810760	p.Thr927Met	missense variant	-	NC_000006.12:g.160056509C>T	ExAC,gnomAD
rs779810760	p.Thr927Met	missense variant	-	NC_000006.12:g.160056509C>T	NCI-TCGA,NCI-TCGA Cosmic
rs373268009	p.Thr928Met	missense variant	-	NC_000006.12:g.160056512C>T	ESP,ExAC,TOPMed,gnomAD
rs907817811	p.Thr930Ile	missense variant	-	NC_000006.12:g.160056518C>T	gnomAD
rs1407713998	p.Ala933Pro	missense variant	-	NC_000006.12:g.160058023G>C	TOPMed,gnomAD
rs770703028	p.Ile936Val	missense variant	-	NC_000006.12:g.160058032A>G	ExAC,gnomAD
rs781337313	p.Arg937Ser	missense variant	-	NC_000006.12:g.160058037G>T	ExAC,gnomAD
rs769815431	p.Ser941Gly	missense variant	-	NC_000006.12:g.160058047A>G	ExAC,gnomAD
rs143641833	p.Pro949Leu	missense variant	-	NC_000006.12:g.160058072C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser952Ile	missense variant	-	NC_000006.12:g.160058081G>T	NCI-TCGA
rs1299736765	p.Ser952Cys	missense variant	-	NC_000006.12:g.160058080A>T	gnomAD
rs199686579	p.Ser953Leu	missense variant	-	NC_000006.12:g.160058084C>T	ESP,ExAC,TOPMed,gnomAD
rs1326579794	p.Tyr956Cys	missense variant	-	NC_000006.12:g.160058093A>G	gnomAD
rs753468699	p.Asn957Ser	missense variant	-	NC_000006.12:g.160058096A>G	ExAC,TOPMed,gnomAD
rs917236520	p.Val958Ile	missense variant	-	NC_000006.12:g.160058098G>A	gnomAD
COSM3777284	p.Gly960Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160058105G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys963Asn	missense variant	-	NC_000006.12:g.160058115G>T	NCI-TCGA
NCI-TCGA novel	p.Ile964Asn	missense variant	-	NC_000006.12:g.160058117T>A	NCI-TCGA
rs1440273084	p.Ile964Phe	missense variant	-	NC_000006.12:g.160058116A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Phe965ValPheSerTerUnk	frameshift	-	NC_000006.12:g.160058118_160058122TTTTA>-	NCI-TCGA
NCI-TCGA novel	p.Asn968Asp	missense variant	-	NC_000006.12:g.160058909A>G	NCI-TCGA
rs755145153	p.Asn968Ser	missense variant	-	NC_000006.12:g.160058910A>G	ExAC,gnomAD
COSM3860125	p.Val969Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160058912G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly971Ser	missense variant	-	NC_000006.12:g.160058918G>A	NCI-TCGA
rs773537372	p.Met973Val	missense variant	-	NC_000006.12:g.160058924A>G	ExAC,TOPMed,gnomAD
rs747467060	p.Met973Thr	missense variant	-	NC_000006.12:g.160058925T>C	ExAC,TOPMed,gnomAD
rs771198423	p.Pro974Leu	missense variant	-	NC_000006.12:g.160058928C>T	ExAC,gnomAD
NCI-TCGA novel	p.Val975Ile	missense variant	-	NC_000006.12:g.160058930G>A	NCI-TCGA
rs140478501	p.Gly977Arg	missense variant	-	NC_000006.12:g.160058936G>C	ESP,ExAC,TOPMed,gnomAD
rs773883927	p.Thr978Ser	missense variant	-	NC_000006.12:g.160058940C>G	ExAC,gnomAD
rs533866817	p.Leu980Val	missense variant	-	NC_000006.12:g.160058945C>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu980Met	missense variant	-	NC_000006.12:g.160058945C>A	NCI-TCGA
rs767501582	p.Lys982Arg	missense variant	-	NC_000006.12:g.160058952A>G	ExAC,gnomAD
rs1238690917	p.Ser985Phe	missense variant	-	NC_000006.12:g.160058961C>T	TOPMed
COSM3430311	p.Ser985Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160058960T>G	NCI-TCGA Cosmic
COSM1075593	p.Ala989Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160058972G>T	NCI-TCGA Cosmic
rs766245878	p.Ala989Gly	missense variant	-	NC_000006.12:g.160058973C>G	ExAC,gnomAD
rs1306519368	p.Glu990Gln	missense variant	-	NC_000006.12:g.160058975G>C	gnomAD
rs377188373	p.Gln992Pro	missense variant	-	NC_000006.12:g.160058982A>C	ESP,ExAC,TOPMed,gnomAD
rs779234498	p.Thr993Asn	missense variant	-	NC_000006.12:g.160058985C>A	ExAC,TOPMed,gnomAD
rs1440412162	p.Glu994Lys	missense variant	-	NC_000006.12:g.160058987G>A	TOPMed,gnomAD
rs1209196882	p.Glu995Asp	missense variant	-	NC_000006.12:g.160058992G>C	gnomAD
NCI-TCGA novel	p.Lys997Asn	missense variant	-	NC_000006.12:g.160058998G>T	NCI-TCGA
rs200131537	p.Lys997Asn	missense variant	-	NC_000006.12:g.160058998G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs148885068	p.Asn998Asp	missense variant	-	NC_000006.12:g.160058999A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp999Leu	missense variant	-	NC_000006.12:g.160059003G>T	NCI-TCGA
rs1285962840	p.Trp999Arg	missense variant	-	NC_000006.12:g.160059002T>A	TOPMed
rs1247029968	p.Arg1003Met	missense variant	-	NC_000006.12:g.160059015G>T	TOPMed
rs201213784	p.Pro1004Gln	missense variant	-	NC_000006.12:g.160059018C>A	1000Genomes,ExAC,gnomAD
rs771334588	p.Pro1004Thr	missense variant	-	NC_000006.12:g.160059017C>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro1004Ser	missense variant	-	NC_000006.12:g.160059017C>T	NCI-TCGA
rs201213784	p.Pro1004Leu	missense variant	-	NC_000006.12:g.160059018C>T	1000Genomes,ExAC,gnomAD
rs768304274	p.Val1005Phe	missense variant	-	NC_000006.12:g.160059020G>T	ExAC,gnomAD
rs761443178	p.Gly1006Arg	missense variant	-	NC_000006.12:g.160059023G>A	ExAC,TOPMed,gnomAD
rs1400547009	p.Lys1009Arg	missense variant	-	NC_000006.12:g.160059033A>G	gnomAD
rs773865521	p.Ser1010Asn	missense variant	-	NC_000006.12:g.160059036G>A	TOPMed,gnomAD
rs771478146	p.Leu1013Gln	missense variant	-	NC_000006.12:g.160059045T>A	ExAC,gnomAD
rs143815364	p.Gly1017Asp	missense variant	-	NC_000006.12:g.160059057G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe1018Val	missense variant	-	NC_000006.12:g.160059059T>G	NCI-TCGA
COSM275545	p.Phe1018Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160059061C>A	NCI-TCGA Cosmic
rs1353397295	p.Thr1020Ser	missense variant	-	NC_000006.12:g.160059066C>G	TOPMed,gnomAD
rs1353397295	p.Thr1020Ile	missense variant	-	NC_000006.12:g.160059066C>T	TOPMed,gnomAD
rs760503948	p.Leu1021Met	missense variant	-	NC_000006.12:g.160059068C>A	ExAC,gnomAD
rs765615193	p.Pro1026Leu	missense variant	-	NC_000006.12:g.160059084C>T	ExAC,TOPMed,gnomAD
rs765615193	p.Pro1026Arg	missense variant	-	NC_000006.12:g.160059084C>G	ExAC,TOPMed,gnomAD
rs752861340	p.Leu1027Phe	missense variant	-	NC_000006.12:g.160059086C>T	ExAC
rs1200823591	p.Ser1028Phe	missense variant	-	NC_000006.12:g.160059090C>T	gnomAD
rs199697619	p.Lys1030Thr	missense variant	-	NC_000006.12:g.160059096A>C	ExAC,TOPMed,gnomAD
rs2274850	p.Gly1031Arg	missense variant	-	NC_000006.12:g.160059098G>C	gnomAD
rs1237194476	p.Gly1031Asp	missense variant	-	NC_000006.12:g.160060547G>A	TOPMed
rs143408059	p.Ala1033Thr	missense variant	-	NC_000006.12:g.160060552G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143408059	p.Ala1033Pro	missense variant	-	NC_000006.12:g.160060552G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1404286976	p.Ala1035Thr	missense variant	-	NC_000006.12:g.160060558G>A	TOPMed
rs775179985	p.Val1038Leu	missense variant	-	NC_000006.12:g.160060567G>C	ExAC,TOPMed,gnomAD
rs775179985	p.Val1038Ile	missense variant	-	NC_000006.12:g.160060567G>A	NCI-TCGA,NCI-TCGA Cosmic
rs775179985	p.Val1038Ile	missense variant	-	NC_000006.12:g.160060567G>A	ExAC,TOPMed,gnomAD
rs764237014	p.Arg1039His	missense variant	-	NC_000006.12:g.160060571G>A	ExAC,TOPMed,gnomAD
rs1286018263	p.Arg1039Cys	missense variant	-	NC_000006.12:g.160060570C>T	TOPMed,gnomAD
rs774545193	p.Phe1040Leu	missense variant	-	NC_000006.12:g.160060573T>C	ExAC,gnomAD
rs774545193	p.Phe1040Ile	missense variant	-	NC_000006.12:g.160060573T>A	ExAC,gnomAD
rs201671465	p.Asn1043Ser	missense variant	-	NC_000006.12:g.160060583A>G	ExAC,TOPMed,gnomAD
rs201671465	p.Asn1043Ile	missense variant	-	NC_000006.12:g.160060583A>T	ExAC,TOPMed,gnomAD
rs1261550813	p.Asn1043Lys	missense variant	-	NC_000006.12:g.160060584T>G	gnomAD
rs201671465	p.Asn1043Ser	missense variant	-	NC_000006.12:g.160060583A>G	NCI-TCGA
rs756636242	p.Asp1044Glu	missense variant	-	NC_000006.12:g.160060587T>A	ExAC,gnomAD
rs750976087	p.Asp1044Gly	missense variant	-	NC_000006.12:g.160060586A>G	ExAC,gnomAD
rs766865849	p.Asp1045Gly	missense variant	-	NC_000006.12:g.160060589A>G	ExAC,gnomAD
rs1443441183	p.Tyr1047His	missense variant	-	NC_000006.12:g.160060594T>C	gnomAD
rs754154384	p.Ser1048Leu	missense variant	-	NC_000006.12:g.160060598C>T	ExAC,TOPMed,gnomAD
rs569566891	p.Lys1052Thr	missense variant	-	NC_000006.12:g.160060610A>C	1000Genomes,ExAC
rs777346478	p.Gln1056Glu	missense variant	-	NC_000006.12:g.160060621C>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp1057Glu	missense variant	-	NC_000006.12:g.160060626T>A	NCI-TCGA
rs746632237	p.Asp1057Tyr	missense variant	-	NC_000006.12:g.160060624G>T	ExAC,gnomAD
rs756879925	p.Ile1058Thr	missense variant	-	NC_000006.12:g.160060628T>C	ExAC,gnomAD
rs769624561	p.Asp1059Gly	missense variant	-	NC_000006.12:g.160060631A>G	ExAC,gnomAD
rs745331709	p.Asp1059Asn	missense variant	-	NC_000006.12:g.160060630G>A	ExAC,TOPMed,gnomAD
rs548550255	p.Gln1062Arg	missense variant	-	NC_000006.12:g.160060640A>G	1000Genomes,ExAC
NCI-TCGA novel	p.Arg1065Ter	stop gained	-	NC_000006.12:g.160060648C>T	NCI-TCGA
COSM1075595	p.Arg1065Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160060649G>A	NCI-TCGA Cosmic
rs768491459	p.Asn1066Ser	missense variant	-	NC_000006.12:g.160060652A>G	ExAC,gnomAD
rs1202586898	p.Thr1067Ala	missense variant	-	NC_000006.12:g.160060654A>G	gnomAD
rs762000469	p.Phe1069Ser	missense variant	-	NC_000006.12:g.160060661T>C	ExAC,gnomAD
rs772232123	p.Glu1070Lys	missense variant	-	NC_000006.12:g.160060663G>A	ExAC,TOPMed,gnomAD
rs772232123	p.Glu1070Gln	missense variant	-	NC_000006.12:g.160060663G>C	ExAC,TOPMed,gnomAD
rs199590661	p.Glu1072Lys	missense variant	-	NC_000006.12:g.160060669G>A	ExAC,TOPMed,gnomAD
rs201467256	p.Ala1074Thr	missense variant	-	NC_000006.12:g.160060675G>A	ExAC,TOPMed,gnomAD
rs199563373	p.Ala1074Val	missense variant	-	NC_000006.12:g.160060676C>T	NCI-TCGA
rs199563373	p.Ala1074Val	missense variant	-	NC_000006.12:g.160060676C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu1075Ser	missense variant	-	NC_000006.12:g.160060679T>C	NCI-TCGA
rs753063304	p.Ala1076Val	missense variant	-	NC_000006.12:g.160060682C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala1076Asp	missense variant	-	NC_000006.12:g.160060682C>A	NCI-TCGA
rs757000799	p.Val1078Ile	missense variant	-	NC_000006.12:g.160060687G>A	ExAC,TOPMed,gnomAD
rs1444665551	p.Pro1081Ala	missense variant	-	NC_000006.12:g.160060696C>G	gnomAD
rs1306869781	p.Pro1081Leu	missense variant	-	NC_000006.12:g.160060697C>T	TOPMed,gnomAD
rs568048161	p.Val1082Met	missense variant	-	NC_000006.12:g.160060699G>A	1000Genomes,ExAC,gnomAD
rs1235863249	p.Asp1083Ala	missense variant	-	NC_000006.12:g.160060703A>C	gnomAD
rs755640551	p.Asp1083Glu	missense variant	-	NC_000006.12:g.160060704C>G	ExAC,TOPMed,gnomAD
rs779924269	p.Cys1084Phe	missense variant	-	NC_000006.12:g.160060706G>T	ExAC,gnomAD
rs1422306282	p.Gln1085Arg	missense variant	-	NC_000006.12:g.160060709A>G	TOPMed
rs1459523235	p.Leu1089Met	missense variant	-	NC_000006.12:g.160061505C>A	gnomAD
COSM3860126	p.Ala1090Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160061508G>A	NCI-TCGA Cosmic
rs771012075	p.Gly1091Arg	missense variant	-	NC_000006.12:g.160061511G>A	ExAC,TOPMed,gnomAD
rs776805189	p.Gly1091Glu	missense variant	-	NC_000006.12:g.160061512G>A	ExAC,gnomAD
rs776131275	p.Asp1095Asn	missense variant	-	NC_000006.12:g.160061523G>A	ExAC,gnomAD
rs763481438	p.Leu1096Gln	missense variant	-	NC_000006.12:g.160061527T>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly1098Ser	missense variant	-	NC_000006.12:g.160061532G>A	NCI-TCGA
rs764524212	p.Gly1098Asp	missense variant	-	NC_000006.12:g.160061533G>A	ExAC,gnomAD
rs544804928	p.Thr1101Ile	missense variant	-	NC_000006.12:g.160061542C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1218481476	p.Val1102Ile	missense variant	-	NC_000006.12:g.160061544G>A	gnomAD
rs1218481476	p.Val1102Leu	missense variant	-	NC_000006.12:g.160061544G>C	gnomAD
COSM3860127	p.Arg1103Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160061549G>C	NCI-TCGA Cosmic
rs1474544426	p.Trp1106Gly	missense variant	-	NC_000006.12:g.160061556T>G	gnomAD
rs8191842	p.Thr1107Met	missense variant	-	NC_000006.12:g.160061560C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs8191842	p.Thr1107Met	missense variant	-	NC_000006.12:g.160061560C>T	UniProt,dbSNP
VAR_020476	p.Thr1107Met	missense variant	-	NC_000006.12:g.160061560C>T	UniProt
rs1414809358	p.Ala1108Ser	missense variant	-	NC_000006.12:g.160061562G>T	gnomAD
NCI-TCGA novel	p.Val1109Asp	missense variant	-	NC_000006.12:g.160061566T>A	NCI-TCGA
rs150749328	p.Asp1114Asn	missense variant	-	NC_000006.12:g.160061580G>A	ESP,ExAC,TOPMed,gnomAD
rs758227931	p.Lys1117Arg	missense variant	-	NC_000006.12:g.160061590A>G	ExAC,gnomAD
rs746742322	p.Tyr1121Cys	missense variant	-	NC_000006.12:g.160061602A>G	ExAC,gnomAD
rs189904315	p.Tyr1121His	missense variant	-	NC_000006.12:g.160061601T>C	1000Genomes,ExAC,gnomAD
rs757507322	p.Leu1122Phe	missense variant	-	NC_000006.12:g.160061606G>T	ExAC,gnomAD
rs8191843	p.Val1124Ile	missense variant	-	NC_000006.12:g.160061610G>A	NCI-TCGA,NCI-TCGA Cosmic
rs8191843	p.Val1124Ile	missense variant	-	NC_000006.12:g.160061610G>A	UniProt,dbSNP
VAR_021309	p.Val1124Ile	missense variant	-	NC_000006.12:g.160061610G>A	UniProt
rs8191843	p.Val1124Ile	missense variant	-	NC_000006.12:g.160061610G>A	ESP,ExAC,TOPMed,gnomAD
rs151180572	p.Asn1126Ser	missense variant	-	NC_000006.12:g.160061617A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1258122169	p.Pro1127Ser	missense variant	-	NC_000006.12:g.160061619C>T	TOPMed,gnomAD
COSM3921018	p.Leu1128Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160061622C>T	NCI-TCGA Cosmic
rs1349071613	p.Pro1129Leu	missense variant	-	NC_000006.12:g.160061626C>T	gnomAD
rs759861254	p.Gln1135Glu	missense variant	-	NC_000006.12:g.160061643C>G	ExAC,TOPMed,gnomAD
rs749788190	p.Gly1136Arg	missense variant	-	NC_000006.12:g.160061646G>C	ExAC,gnomAD
rs749788190	p.Gly1136Cys	missense variant	-	NC_000006.12:g.160061646G>T	ExAC,gnomAD
rs776385309	p.Ala1138Thr	missense variant	-	NC_000006.12:g.160061758G>A	NCI-TCGA,NCI-TCGA Cosmic
rs776385309	p.Ala1138Thr	missense variant	-	NC_000006.12:g.160061758G>A	ExAC,TOPMed,gnomAD
rs1451408948	p.Val1139Met	missense variant	-	NC_000006.12:g.160061761G>A	TOPMed,gnomAD
rs1489423009	p.Val1144Glu	missense variant	-	NC_000006.12:g.160061777T>A	TOPMed
rs774986880	p.Ser1145Leu	missense variant	-	NC_000006.12:g.160061780C>T	ExAC,gnomAD
rs1276555327	p.Glu1146Val	missense variant	-	NC_000006.12:g.160061783A>T	gnomAD
rs762393487	p.Trp1150Ter	stop gained	-	NC_000006.12:g.160061795G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val1155Ala	missense variant	-	NC_000006.12:g.160061810T>C	NCI-TCGA
rs1318930546	p.Gln1160Lys	missense variant	-	NC_000006.12:g.160061824C>A	gnomAD
rs146152775	p.Ala1162Val	missense variant	-	NC_000006.12:g.160061831C>T	ESP,ExAC,TOPMed,gnomAD
rs372971885	p.Ala1162Thr	missense variant	-	NC_000006.12:g.160061830G>A	ESP,ExAC,TOPMed,gnomAD
rs372971885	p.Ala1162Thr	missense variant	-	NC_000006.12:g.160061830G>A	NCI-TCGA,NCI-TCGA Cosmic
rs780352875	p.Ala1163Val	missense variant	-	NC_000006.12:g.160061834C>T	ExAC,TOPMed,gnomAD
rs780352875	p.Ala1163Val	missense variant	-	NC_000006.12:g.160061834C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1423871778	p.Gly1165Arg	missense variant	-	NC_000006.12:g.160061839G>C	gnomAD
rs754999313	p.Gly1165Glu	missense variant	-	NC_000006.12:g.160061840G>A	ExAC,gnomAD
rs748569814	p.Ser1166Phe	missense variant	-	NC_000006.12:g.160061843C>T	ExAC,gnomAD
rs748569814	p.Ser1166Tyr	missense variant	-	NC_000006.12:g.160061843C>A	ExAC,gnomAD
rs1405446066	p.Ser1168Asn	missense variant	-	NC_000006.12:g.160061849G>A	gnomAD
rs983196534	p.Met1170Val	missense variant	-	NC_000006.12:g.160061854A>G	TOPMed,gnomAD
rs1404082675	p.Val1172Ile	missense variant	-	NC_000006.12:g.160061860G>A	gnomAD
rs747309472	p.Val1172Asp	missense variant	-	NC_000006.12:g.160061861T>A	ExAC,gnomAD
rs200088387	p.Asn1173Ser	missense variant	-	NC_000006.12:g.160061864A>G	TOPMed,gnomAD
rs1268651654	p.Asp1175Gly	missense variant	-	NC_000006.12:g.160061870A>G	gnomAD
rs1163791848	p.Arg1181His	missense variant	-	NC_000006.12:g.160061888G>A	TOPMed
rs201023219	p.Arg1181Cys	missense variant	-	NC_000006.12:g.160061887C>T	ExAC,TOPMed,gnomAD
rs8191844	p.Thr1184Ile	missense variant	-	NC_000006.12:g.160061897C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs8191844	p.Thr1184Ser	missense variant	-	NC_000006.12:g.160061897C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs8191844	p.Thr1184Ser	missense variant	-	NC_000006.12:g.160061897C>G	UniProt,dbSNP
VAR_020477	p.Thr1184Ser	missense variant	-	NC_000006.12:g.160061897C>G	UniProt
rs767446304	p.Arg1185Gly	missense variant	-	NC_000006.12:g.160061899A>G	ExAC,gnomAD
rs750245956	p.Ile1186Met	missense variant	-	NC_000006.12:g.160061904C>G	ExAC,gnomAD
rs368872465	p.Thr1187Met	missense variant	-	NC_000006.12:g.160061906C>T	ESP,ExAC,TOPMed,gnomAD
rs1372177784	p.Phe1188Leu	missense variant	-	NC_000006.12:g.160061910T>G	gnomAD
rs544201211	p.Ser1194Thr	missense variant	-	NC_000006.12:g.160061926T>A	TOPMed,gnomAD
rs117358940	p.Ser1194Leu	missense variant	-	NC_000006.12:g.160061927C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs117358940	p.Ser1194Trp	missense variant	-	NC_000006.12:g.160061927C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs544201211	p.Ser1194Pro	missense variant	-	NC_000006.12:g.160061926T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ser1196Leu	missense variant	-	NC_000006.12:g.160062536C>T	NCI-TCGA
rs766245947	p.Phe1199Leu	missense variant	-	NC_000006.12:g.160062544T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln1200His	missense variant	-	NC_000006.12:g.160062549G>T	NCI-TCGA
rs777040479	p.Gln1200Pro	missense variant	-	NC_000006.12:g.160062548A>C	ExAC,gnomAD
rs759698621	p.Leu1201Phe	missense variant	-	NC_000006.12:g.160062550C>T	ExAC,gnomAD
rs1231990796	p.Asp1203Asn	missense variant	-	NC_000006.12:g.160062556G>A	gnomAD
rs765434702	p.Asp1203Gly	missense variant	-	NC_000006.12:g.160062557A>G	ExAC,TOPMed,gnomAD
rs1338959346	p.Tyr1207Ser	missense variant	-	NC_000006.12:g.160062569A>C	gnomAD
rs1396885092	p.Tyr1207His	missense variant	-	NC_000006.12:g.160062568T>C	gnomAD
rs758491772	p.Val1208Met	missense variant	-	NC_000006.12:g.160062571G>A	ExAC,TOPMed,gnomAD
rs758491772	p.Val1208Met	missense variant	-	NC_000006.12:g.160062571G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1344322571	p.Arg1212Thr	missense variant	-	NC_000006.12:g.160062584G>C	TOPMed
rs757672047	p.Thr1213Ser	missense variant	-	NC_000006.12:g.160062587C>G	ExAC,TOPMed,gnomAD
rs1335525047	p.Val1214Leu	missense variant	-	NC_000006.12:g.160062589G>C	TOPMed,gnomAD
rs1335525047	p.Val1214Met	missense variant	-	NC_000006.12:g.160062589G>A	TOPMed,gnomAD
rs1205109321	p.Glu1215Asp	missense variant	-	NC_000006.12:g.160062594A>T	TOPMed,gnomAD
rs1345268573	p.Glu1215Lys	missense variant	-	NC_000006.12:g.160062592G>A	gnomAD
rs746205935	p.Ala1216Thr	missense variant	-	NC_000006.12:g.160062595G>A	ExAC,gnomAD
rs1309037837	p.Ala1216Gly	missense variant	-	NC_000006.12:g.160062596C>G	TOPMed
COSM3860128	p.Cys1217Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160062599G>T	NCI-TCGA Cosmic
rs368061810	p.Val1219Ile	missense variant	-	NC_000006.12:g.160062604G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1223Asp	missense variant	-	NC_000006.12:g.160062618A>T	NCI-TCGA
NCI-TCGA novel	p.Asp1225Val	missense variant	-	NC_000006.12:g.160063418A>T	NCI-TCGA
COSM6173005	p.Asp1225Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160063417G>T	NCI-TCGA Cosmic
rs1298066969	p.Asn1226Asp	missense variant	-	NC_000006.12:g.160063420A>G	gnomAD
rs142862020	p.Asn1226Ser	missense variant	-	NC_000006.12:g.160063421A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1407127687	p.Glu1228Lys	missense variant	-	NC_000006.12:g.160063426G>A	gnomAD
rs1185688501	p.Val1229Met	missense variant	-	NC_000006.12:g.160063429G>A	gnomAD
NCI-TCGA novel	p.Asp1231Glu	missense variant	-	NC_000006.12:g.160063437C>G	NCI-TCGA
rs1424362804	p.Pro1232Thr	missense variant	-	NC_000006.12:g.160063438C>A	gnomAD
rs140292951	p.Arg1233Lys	missense variant	-	NC_000006.12:g.160063442G>A	ESP,ExAC,gnomAD
rs769601265	p.His1234Arg	missense variant	-	NC_000006.12:g.160063445A>G	ExAC,TOPMed,gnomAD
rs1374442835	p.His1234Tyr	missense variant	-	NC_000006.12:g.160063444C>T	TOPMed
rs763188815	p.Gly1235Asp	missense variant	-	NC_000006.12:g.160063448G>A	NCI-TCGA
rs763188815	p.Gly1235Asp	missense variant	-	NC_000006.12:g.160063448G>A	ExAC,TOPMed,gnomAD
rs768828328	p.Asn1236Ser	missense variant	-	NC_000006.12:g.160063451A>G	ExAC,TOPMed,gnomAD
rs146994109	p.Leu1240Val	missense variant	-	NC_000006.12:g.160063462C>G	ESP,ExAC,TOPMed,gnomAD
rs1187265190	p.Pro1242Arg	missense variant	-	NC_000006.12:g.160063469C>G	gnomAD
rs1237489276	p.Gly1244Asp	missense variant	-	NC_000006.12:g.160063475G>A	TOPMed
NCI-TCGA novel	p.Gly1244Ser	missense variant	-	NC_000006.12:g.160063474G>A	NCI-TCGA
NCI-TCGA novel	p.Gly1244Cys	missense variant	-	NC_000006.12:g.160063474G>T	NCI-TCGA
rs767964612	p.Leu1245Phe	missense variant	-	NC_000006.12:g.160063477C>T	ExAC,gnomAD
rs77420768	p.Asn1246Ser	missense variant	-	NC_000006.12:g.160063481A>G	ExAC,gnomAD
COSM1075598	p.Asp1247Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160063483G>A	NCI-TCGA Cosmic
rs1301666918	p.Thr1248Ser	missense variant	-	NC_000006.12:g.160063487C>G	gnomAD
rs1427184802	p.Thr1248Ala	missense variant	-	NC_000006.12:g.160063486A>G	TOPMed,gnomAD
rs766743203	p.Ile1249Thr	missense variant	-	NC_000006.12:g.160063490T>C	ExAC,gnomAD
rs781193290	p.Val1250Met	missense variant	-	NC_000006.12:g.160063492G>A	TOPMed,gnomAD
rs368189343	p.Ala1252Thr	missense variant	-	NC_000006.12:g.160063498G>A	ESP,ExAC,TOPMed,gnomAD
rs1361486626	p.Glu1254Lys	missense variant	-	NC_000006.12:g.160063504G>A	NCI-TCGA Cosmic
rs1361486626	p.Glu1254Lys	missense variant	-	NC_000006.12:g.160063504G>A	gnomAD
rs1243604829	p.Tyr1255Cys	missense variant	-	NC_000006.12:g.160063508A>G	gnomAD
rs1372451286	p.Thr1256Ala	missense variant	-	NC_000006.12:g.160063510A>G	TOPMed
rs1331190876	p.Thr1256Ser	missense variant	-	NC_000006.12:g.160063511C>G	TOPMed
rs1290953686	p.Tyr1257Phe	missense variant	-	NC_000006.12:g.160063514A>T	gnomAD
rs756824927	p.Tyr1258His	missense variant	-	NC_000006.12:g.160063516T>C	ExAC
rs1397954651	p.Phe1259Tyr	missense variant	-	NC_000006.12:g.160063520T>A	TOPMed
rs1443955763	p.Phe1259Leu	missense variant	-	NC_000006.12:g.160063519T>C	TOPMed
rs1217705895	p.Arg1260Trp	missense variant	-	NC_000006.12:g.160063522C>T	NCI-TCGA Cosmic
rs1217705895	p.Arg1260Trp	missense variant	-	NC_000006.12:g.160063522C>T	gnomAD
rs142223284	p.Arg1260Gln	missense variant	-	NC_000006.12:g.160063523G>A	ESP,ExAC,TOPMed,gnomAD
rs1485040402	p.Val1261Ala	missense variant	-	NC_000006.12:g.160063526T>C	gnomAD
rs138144909	p.Gly1263Glu	missense variant	-	NC_000006.12:g.160063532G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779935538	p.Lys1264Glu	missense variant	-	NC_000006.12:g.160063534A>G	ExAC,gnomAD
rs1175353362	p.Lys1264Asn	missense variant	-	NC_000006.12:g.160063536G>C	TOPMed
rs375156596	p.Lys1264Arg	missense variant	-	NC_000006.12:g.160063535A>G	ESP,ExAC,TOPMed,gnomAD
rs1161780508	p.Ser1267Ala	missense variant	-	NC_000006.12:g.160063543T>G	gnomAD
COSM3860129	p.Asp1268Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160063547A>T	NCI-TCGA Cosmic
rs1336997192	p.Val1269Ile	missense variant	-	NC_000006.12:g.160063549G>A	TOPMed,gnomAD
rs1336997192	p.Val1269Ile	missense variant	-	NC_000006.12:g.160063549G>A	NCI-TCGA
rs773639789	p.Thr1272Ala	missense variant	-	NC_000006.12:g.160063558A>G	ExAC,gnomAD
rs761265344	p.Thr1272Ile	missense variant	-	NC_000006.12:g.160063559C>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys1277Asn	missense variant	-	NC_000006.12:g.160063575G>T	NCI-TCGA
rs528019616	p.Lys1277Met	missense variant	-	NC_000006.12:g.160063574A>T	1000Genomes,ExAC,gnomAD
rs1208288080	p.Glu1284Lys	missense variant	-	NC_000006.12:g.160063594G>A	gnomAD
rs547669372	p.Arg1286Pro	missense variant	-	NC_000006.12:g.160063601G>C	1000Genomes,ExAC,gnomAD
rs1462668024	p.Arg1286Trp	missense variant	-	NC_000006.12:g.160063600C>T	gnomAD
rs1462668024	p.Arg1286Trp	missense variant	-	NC_000006.12:g.160063600C>T	NCI-TCGA
rs547669372	p.Arg1286Gln	missense variant	-	NC_000006.12:g.160063601G>A	1000Genomes,ExAC,gnomAD
rs1179305800	p.Glu1287Gly	missense variant	-	NC_000006.12:g.160063604A>G	gnomAD
rs1470836514	p.Glu1287Gln	missense variant	-	NC_000006.12:g.160063603G>C	gnomAD
rs751227852	p.Pro1288Leu	missense variant	-	NC_000006.12:g.160063607C>T	NCI-TCGA,NCI-TCGA Cosmic
rs751227852	p.Pro1288Leu	missense variant	-	NC_000006.12:g.160063607C>T	ExAC,TOPMed,gnomAD
rs749863347	p.Gln1289Arg	missense variant	-	NC_000006.12:g.160063610A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly1290Glu	missense variant	-	NC_000006.12:g.160063613G>A	NCI-TCGA
rs756086081	p.His1292Arg	missense variant	-	NC_000006.12:g.160063619A>G	ExAC,gnomAD
rs945091949	p.Lys1293Arg	missense variant	-	NC_000006.12:g.160063622A>G	gnomAD
rs1237470492	p.Lys1293Gln	missense variant	-	NC_000006.12:g.160063621A>C	TOPMed
rs779801468	p.Ala1295Ser	missense variant	-	NC_000006.12:g.160063627G>T	ExAC,gnomAD
COSM1075600	p.Ala1295Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160063627G>A	NCI-TCGA Cosmic
rs568135607	p.Leu1297Phe	missense variant	-	NC_000006.12:g.160064403C>T	1000Genomes
rs1221850141	p.Lys1301Arg	missense variant	-	NC_000006.12:g.160064416A>G	gnomAD
rs778701526	p.Glu1305Gly	missense variant	-	NC_000006.12:g.160064428A>G	ExAC,TOPMed,gnomAD
rs533788570	p.Leu1308Phe	missense variant	-	NC_000006.12:g.160064438G>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Leu1309Phe	missense variant	-	NC_000006.12:g.160064441A>T	NCI-TCGA
rs1223684203	p.Met1311Val	missense variant	-	NC_000006.12:g.160064445A>G	gnomAD
rs1027077738	p.Met1311Thr	missense variant	-	NC_000006.12:g.160064446T>C	TOPMed
rs888095015	p.Thr1314Met	missense variant	-	NC_000006.12:g.160064455C>T	TOPMed
rs960227930	p.Gly1315Arg	missense variant	-	NC_000006.12:g.160064457G>A	TOPMed,gnomAD
rs8191859	p.Gly1315Val	missense variant	-	NC_000006.12:g.160064458G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs960227930	p.Gly1315Arg	missense variant	-	NC_000006.12:g.160064457G>C	TOPMed,gnomAD
rs8191859	p.Gly1315Ala	missense variant	-	NC_000006.12:g.160064458G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs8191859	p.Gly1315Glu	missense variant	-	NC_000006.12:g.160064458G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs760021495	p.Asp1317ThrPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.160064456G>-	NCI-TCGA,NCI-TCGA Cosmic
rs556127202	p.Asp1317Gly	missense variant	-	NC_000006.12:g.160064464A>G	1000Genomes,ExAC,gnomAD
rs1176676050	p.Asp1317His	missense variant	-	NC_000006.12:g.160064463G>C	TOPMed
rs777173791	p.Asp1317GlyPheSerTerUnk	frameshift	-	NC_000006.12:g.160064455_160064456insG	NCI-TCGA,NCI-TCGA Cosmic
rs763173606	p.Thr1318Asn	missense variant	-	NC_000006.12:g.160064467C>A	ExAC,TOPMed,gnomAD
rs776004608	p.Thr1318Ala	missense variant	-	NC_000006.12:g.160064466A>G	ExAC,gnomAD
rs763173606	p.Thr1318Ile	missense variant	-	NC_000006.12:g.160064467C>T	ExAC,TOPMed,gnomAD
rs1165407781	p.His1320Arg	missense variant	-	NC_000006.12:g.160064473A>G	TOPMed,gnomAD
rs149254379	p.His1320Tyr	missense variant	-	NC_000006.12:g.160064472C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1321Asn	missense variant	-	NC_000006.12:g.160064477G>T	NCI-TCGA
rs1363410387	p.Val1322Phe	missense variant	-	NC_000006.12:g.160064478G>T	gnomAD
rs751103307	p.Arg1325His	missense variant	-	NC_000006.12:g.160064488G>A	NCI-TCGA
rs1450812761	p.Arg1325Cys	missense variant	-	NC_000006.12:g.160064487C>T	NCI-TCGA Cosmic
rs1450812761	p.Arg1325Cys	missense variant	-	NC_000006.12:g.160064487C>T	gnomAD
rs751103307	p.Arg1325His	missense variant	-	NC_000006.12:g.160064488G>A	ExAC,TOPMed,gnomAD
rs978813746	p.Ser1326Thr	missense variant	-	NC_000006.12:g.160064490T>A	TOPMed
NCI-TCGA novel	p.Thr1327Ala	missense variant	-	NC_000006.12:g.160064493A>G	NCI-TCGA
rs753293718	p.Ala1328Thr	missense variant	-	NC_000006.12:g.160064496G>A	ExAC,TOPMed,gnomAD
rs369916399	p.Ala1328Val	missense variant	-	NC_000006.12:g.160064497C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1375085118	p.Ile1329Met	missense variant	-	NC_000006.12:g.160064501C>G	TOPMed
rs1233866654	p.Ile1329Thr	missense variant	-	NC_000006.12:g.160064500T>C	gnomAD
rs1345915194	p.Ile1329Val	missense variant	-	NC_000006.12:g.160064499A>G	gnomAD
rs752549366	p.Phe1330Ile	missense variant	-	NC_000006.12:g.160064502T>A	ExAC,gnomAD
rs1357695934	p.Phe1331Tyr	missense variant	-	NC_000006.12:g.160064506T>A	TOPMed,gnomAD
COSM6173004	p.Asp1334Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160064516C>A	NCI-TCGA Cosmic
rs8191860	p.Arg1335His	missense variant	-	NC_000006.12:g.160064518G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144472377	p.Arg1335Cys	missense variant	-	NC_000006.12:g.160064517C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144472377	p.Arg1335Ser	missense variant	-	NC_000006.12:g.160064517C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751709999	p.Gly1336Ser	missense variant	-	NC_000006.12:g.160064520G>A	ExAC,TOPMed,gnomAD
rs1444720239	p.Arg1339Gln	missense variant	-	NC_000006.12:g.160064530G>A	TOPMed,gnomAD
rs370872105	p.Arg1339Trp	missense variant	-	NC_000006.12:g.160064529C>T	ESP,ExAC,TOPMed,gnomAD
rs1444720239	p.Arg1339Leu	missense variant	-	NC_000006.12:g.160064530G>T	TOPMed,gnomAD
COSM4843179	p.Pro1340Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160064805C>T	NCI-TCGA Cosmic
rs571049189	p.Val1341Ile	missense variant	-	NC_000006.12:g.160064807G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201662519	p.Phe1342Leu	missense variant	-	NC_000006.12:g.160064812T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs965276522	p.Lys1344Arg	missense variant	-	NC_000006.12:g.160064817A>G	TOPMed
rs762831602	p.Thr1346Ser	missense variant	-	NC_000006.12:g.160064822A>T	ExAC,gnomAD
rs780962088	p.Asp1348Gly	missense variant	-	NC_000006.12:g.160064829A>G	TOPMed
rs764026914	p.Asp1348Asn	missense variant	-	NC_000006.12:g.160064828G>A	ExAC,gnomAD
rs774033988	p.Ser1350Cys	missense variant	-	NC_000006.12:g.160064835C>G	ExAC,TOPMed,gnomAD
rs1196240910	p.Ser1350Ala	missense variant	-	NC_000006.12:g.160064834T>G	gnomAD
rs1417037057	p.Tyr1351His	missense variant	-	NC_000006.12:g.160064837T>C	gnomAD
rs761689625	p.Tyr1351Cys	missense variant	-	NC_000006.12:g.160064838A>G	ExAC,gnomAD
rs761689625	p.Tyr1351Ser	missense variant	-	NC_000006.12:g.160064838A>C	ExAC,gnomAD
rs1406224864	p.Leu1352Phe	missense variant	-	NC_000006.12:g.160064842G>C	NCI-TCGA Cosmic
rs1406224864	p.Leu1352Phe	missense variant	-	NC_000006.12:g.160064842G>C	TOPMed
rs750646803	p.Arg1356Ter	stop gained	-	NC_000006.12:g.160064852C>T	NCI-TCGA,NCI-TCGA Cosmic
rs750646803	p.Arg1356Ter	stop gained	-	NC_000006.12:g.160064852C>T	ExAC,TOPMed,gnomAD
rs756307482	p.Arg1356Gln	missense variant	-	NC_000006.12:g.160064853G>A	ExAC,TOPMed,gnomAD
rs756307482	p.Arg1356Gln	missense variant	-	NC_000006.12:g.160064853G>A	NCI-TCGA,NCI-TCGA Cosmic
rs766388482	p.Thr1357Met	missense variant	-	NC_000006.12:g.160064856C>T	ExAC,gnomAD
rs1299192912	p.Gln1358Pro	missense variant	-	NC_000006.12:g.160064859A>C	gnomAD
rs755443048	p.Tyr1359Phe	missense variant	-	NC_000006.12:g.160064862A>T	ExAC,gnomAD
rs779416311	p.Ala1360Ser	missense variant	-	NC_000006.12:g.160064864G>T	ExAC,gnomAD
rs1193511401	p.Pro1363Ser	missense variant	-	NC_000006.12:g.160064873C>T	TOPMed
rs1307882499	p.Pro1363Arg	missense variant	-	NC_000006.12:g.160064874C>G	gnomAD
rs368320741	p.Phe1364Leu	missense variant	-	NC_000006.12:g.160064878C>A	ESP,ExAC,TOPMed,gnomAD
rs146110381	p.Asp1365Gly	missense variant	-	NC_000006.12:g.160064880A>G	ESP,ExAC,TOPMed,gnomAD
rs780871638	p.Asp1365Asn	missense variant	-	NC_000006.12:g.160064879G>A	ExAC,gnomAD
rs780871638	p.Asp1365Asn	missense variant	-	NC_000006.12:g.160064879G>A	NCI-TCGA
COSM3430313	p.Phe1371Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160064898T>G	NCI-TCGA Cosmic
rs1227553153	p.Lys1372Arg	missense variant	-	NC_000006.12:g.160064901A>G	TOPMed,gnomAD
rs1227485481	p.Asp1373His	missense variant	-	NC_000006.12:g.160068250G>C	gnomAD
rs201271105	p.Gly1374Glu	missense variant	-	NC_000006.12:g.160068254G>A	1000Genomes,ExAC,gnomAD
rs1220036536	p.Ser1378Thr	missense variant	-	NC_000006.12:g.160068265T>A	gnomAD
rs747309221	p.Phe1379Leu	missense variant	-	NC_000006.12:g.160068270C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1380Val	missense variant	-	NC_000006.12:g.160068272A>T	NCI-TCGA
rs1355959103	p.Leu1381Phe	missense variant	-	NC_000006.12:g.160068274C>T	TOPMed
rs200710526	p.Leu1384Met	missense variant	-	NC_000006.12:g.160068283C>A	ESP,ExAC,TOPMed,gnomAD
rs374448811	p.Ser1388Gly	missense variant	-	NC_000006.12:g.160068295A>G	ESP,ExAC,TOPMed,gnomAD
rs374448811	p.Ser1388Arg	missense variant	-	NC_000006.12:g.160068295A>C	ESP,ExAC,TOPMed,gnomAD
rs1426925699	p.Asp1389Glu	missense variant	-	NC_000006.12:g.160068300C>A	gnomAD
rs1453941096	p.Thr1395Ile	missense variant	-	NC_000006.12:g.160068317C>T	TOPMed,gnomAD
rs2230048	p.Thr1395Ser	missense variant	-	NC_000006.12:g.160068316A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146402810	p.Gly1396Val	missense variant	-	NC_000006.12:g.160068320G>T	ESP,ExAC,TOPMed
rs139241313	p.Thr1397Met	missense variant	-	NC_000006.12:g.160068323C>T	ESP,TOPMed,gnomAD
rs760458051	p.Asp1399Asn	missense variant	-	NC_000006.12:g.160068328G>A	ExAC,gnomAD
rs1384967666	p.Pro1400Leu	missense variant	-	NC_000006.12:g.160068332C>T	TOPMed,gnomAD
rs759574127	p.His1402Tyr	missense variant	-	NC_000006.12:g.160068337C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr1403Cys	missense variant	-	NC_000006.12:g.160068341A>G	NCI-TCGA
rs1168254135	p.Tyr1403Asn	missense variant	-	NC_000006.12:g.160068340T>A	TOPMed
rs1027439127	p.Asn1406Ser	missense variant	-	NC_000006.12:g.160068350A>G	TOPMed,gnomAD
rs1349706700	p.Val1407Ile	missense variant	-	NC_000006.12:g.160068352G>A	gnomAD
rs1290192322	p.Leu1411Pro	missense variant	-	NC_000006.12:g.160068365T>C	gnomAD
rs752735552	p.Ala1412Thr	missense variant	-	NC_000006.12:g.160068367G>A	ExAC,gnomAD
rs763456656	p.Ala1412Asp	missense variant	-	NC_000006.12:g.160068368C>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro1413ArgPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.160068368C>-	NCI-TCGA
rs751981139	p.Pro1413Ser	missense variant	-	NC_000006.12:g.160068370C>T	ExAC,gnomAD
rs757640649	p.Pro1413Leu	missense variant	-	NC_000006.12:g.160068371C>T	ExAC,TOPMed,gnomAD
rs754534312	p.Ala1415Asp	missense variant	-	NC_000006.12:g.160068377C>A	ExAC,TOPMed,gnomAD
rs778593094	p.Thr1417Pro	missense variant	-	NC_000006.12:g.160068382A>C	ExAC,TOPMed,gnomAD
rs1386053094	p.Thr1417Ser	missense variant	-	NC_000006.12:g.160068383C>G	gnomAD
rs1199631386	p.Pro1419Leu	missense variant	-	NC_000006.12:g.160069871C>T	TOPMed,gnomAD
rs745592216	p.Pro1419Thr	missense variant	-	NC_000006.12:g.160069870C>A	ExAC,TOPMed,gnomAD
rs745592216	p.Pro1419Ser	missense variant	-	NC_000006.12:g.160069870C>T	ExAC,TOPMed,gnomAD
rs775688111	p.Pro1421Arg	missense variant	-	NC_000006.12:g.160069877C>G	ExAC
rs1171533792	p.Ala1424Val	missense variant	-	NC_000006.12:g.160069886C>T	gnomAD
rs1476737084	p.Ala1424Ser	missense variant	-	NC_000006.12:g.160069885G>T	gnomAD
rs1271906368	p.Ala1426Thr	missense variant	-	NC_000006.12:g.160069891G>A	TOPMed,gnomAD
rs768703570	p.Ala1426Val	missense variant	-	NC_000006.12:g.160069892C>T	ExAC,TOPMed,gnomAD
rs1207688189	p.Cys1427Ser	missense variant	-	NC_000006.12:g.160069894T>A	TOPMed,gnomAD
rs980160088	p.Gly1430Ser	missense variant	-	NC_000006.12:g.160069903G>A	TOPMed
rs1255851521	p.Ser1432Phe	missense variant	-	NC_000006.12:g.160069910C>T	gnomAD
rs773636221	p.Pro1434Leu	missense variant	-	NC_000006.12:g.160069916C>T	ExAC,gnomAD
rs1046637555	p.Val1435Met	missense variant	-	NC_000006.12:g.160069918G>A	TOPMed,gnomAD
rs1046637555	p.Val1435Leu	missense variant	-	NC_000006.12:g.160069918G>T	TOPMed,gnomAD
rs1046637555	p.Val1435Leu	missense variant	-	NC_000006.12:g.160069918G>C	TOPMed,gnomAD
rs758030266	p.Val1440Gly	missense variant	-	NC_000006.12:g.160069934T>G	ExAC,gnomAD
rs763719977	p.Arg1441Ser	missense variant	-	NC_000006.12:g.160069938G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1442Asn	missense variant	-	NC_000006.12:g.160069939G>A	NCI-TCGA
rs757233434	p.Gly1443Arg	missense variant	-	NC_000006.12:g.160069942G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1443Glu	missense variant	-	NC_000006.12:g.160069943G>A	NCI-TCGA
rs1449569270	p.Pro1444Ser	missense variant	-	NC_000006.12:g.160069945C>T	gnomAD
rs1197540560	p.Pro1444Leu	missense variant	-	NC_000006.12:g.160069946C>T	gnomAD
NCI-TCGA novel	p.Trp1446Cys	missense variant	-	NC_000006.12:g.160069953G>C	NCI-TCGA
rs121434587	p.Gly1449Val	missense variant	-	NC_000006.12:g.160069961G>T	-
rs745743992	p.Ile1450Val	missense variant	-	NC_000006.12:g.160069963A>G	ExAC,gnomAD
rs755875624	p.Ile1451Val	missense variant	-	NC_000006.12:g.160069966A>G	ExAC,gnomAD
COSM741318	p.Leu1453Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160069973T>A	NCI-TCGA Cosmic
rs780307175	p.Tyr1455Ter	stop gained	-	NC_000006.12:g.160069980C>A	ExAC,TOPMed,gnomAD
rs749614048	p.Tyr1455Cys	missense variant	-	NC_000006.12:g.160069979A>G	gnomAD
rs749614048	p.Tyr1455Phe	missense variant	-	NC_000006.12:g.160069979A>T	gnomAD
rs1315578100	p.Val1456Ile	missense variant	-	NC_000006.12:g.160069981G>A	TOPMed
rs749530351	p.Val1456Ala	missense variant	-	NC_000006.12:g.160069982T>C	ExAC,gnomAD
rs1033601474	p.Asp1457Gly	missense variant	-	NC_000006.12:g.160069985A>G	TOPMed
rs774498478	p.Asp1459Asn	missense variant	-	NC_000006.12:g.160069990G>A	ExAC,gnomAD
NCI-TCGA novel	p.Cys1461Tyr	missense variant	-	NC_000006.12:g.160069997G>A	NCI-TCGA
rs772696471	p.Pro1462Ser	missense variant	-	NC_000006.12:g.160069999C>T	ExAC,TOPMed,gnomAD
rs772696471	p.Pro1462Ala	missense variant	-	NC_000006.12:g.160069999C>G	ExAC,TOPMed,gnomAD
rs761164003	p.Asp1463Gly	missense variant	-	NC_000006.12:g.160070003A>G	ExAC,gnomAD
rs121434588	p.Gly1464Glu	missense variant	-	NC_000006.12:g.160070006G>A	-
rs375281736	p.Arg1466Trp	missense variant	-	NC_000006.12:g.160070011C>T	ESP,ExAC,TOPMed,gnomAD
rs368697729	p.Arg1466Gln	missense variant	-	NC_000006.12:g.160070012G>A	1000Genomes,ESP,ExAC,gnomAD
rs763595868	p.Ser1469Leu	missense variant	-	NC_000006.12:g.160070021C>T	ExAC,TOPMed,gnomAD
rs1010570643	p.Thr1470Ala	missense variant	-	NC_000006.12:g.160070023A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ile1472Met	missense variant	-	NC_000006.12:g.160070031C>G	NCI-TCGA
NCI-TCGA novel	p.Ile1472Val	missense variant	-	NC_000006.12:g.160070029A>G	NCI-TCGA
rs756715139	p.Arg1473Gln	missense variant	-	NC_000006.12:g.160070033G>A	ExAC,TOPMed,gnomAD
COSM4934839	p.Arg1473Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.160070032C>T	NCI-TCGA Cosmic
rs756715139	p.Arg1473Leu	missense variant	-	NC_000006.12:g.160070033G>T	ExAC,TOPMed,gnomAD
rs1206340507	p.Phe1474Leu	missense variant	-	NC_000006.12:g.160070035T>C	TOPMed,gnomAD
rs1206340507	p.Phe1474Ile	missense variant	-	NC_000006.12:g.160070035T>A	TOPMed,gnomAD
rs1476228710	p.Ser1477Asn	missense variant	-	NC_000006.12:g.160070045G>A	TOPMed
rs371705752	p.Glu1478Lys	missense variant	-	NC_000006.12:g.160070047G>A	ESP,ExAC,gnomAD
rs777746756	p.Ser1483Phe	missense variant	-	NC_000006.12:g.160071914C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1484Ser	missense variant	-	NC_000006.12:g.160071918G>T	NCI-TCGA
rs142184569	p.Met1486Leu	missense variant	-	NC_000006.12:g.160071922A>T	ESP,ExAC,gnomAD
rs142184569	p.Met1486Val	missense variant	-	NC_000006.12:g.160071922A>G	ESP,ExAC,gnomAD
rs781763134	p.Ile1488Leu	missense variant	-	NC_000006.12:g.160071928A>C	ExAC,TOPMed,gnomAD
rs781763134	p.Ile1488Val	missense variant	-	NC_000006.12:g.160071928A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1489Arg	missense variant	-	NC_000006.12:g.160071931A>C	NCI-TCGA
rs770030458	p.Ala1490Thr	missense variant	-	NC_000006.12:g.160071934G>A	ExAC,TOPMed,gnomAD
rs761398978	p.Val1491Met	missense variant	-	NC_000006.12:g.160071937G>A	ExAC,TOPMed,gnomAD
rs1281284484	p.Glu1495Asp	missense variant	-	NC_000006.12:g.160071951G>T	gnomAD
rs1305157875	p.Thr1497Ala	missense variant	-	NC_000006.12:g.160071955A>G	TOPMed
COSM1075604	p.Trp1500Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.160071966G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro1501His	missense variant	-	NC_000006.12:g.160071968C>A	NCI-TCGA
rs1178400877	p.Pro1501Arg	missense variant	-	NC_000006.12:g.160071968C>G	TOPMed,gnomAD
rs1466975574	p.Pro1501Ser	missense variant	-	NC_000006.12:g.160071967C>T	TOPMed
rs1178400877	p.Pro1501Leu	missense variant	-	NC_000006.12:g.160071968C>T	TOPMed,gnomAD
rs77999960	p.Thr1504Ile	missense variant	-	NC_000006.12:g.160071977C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772725738	p.Thr1504Pro	missense variant	-	NC_000006.12:g.160071976A>C	ExAC,TOPMed,gnomAD
rs759426249	p.Asn1511Lys	missense variant	-	NC_000006.12:g.160071999C>A	ExAC,TOPMed,gnomAD
rs184364191	p.Asn1511Ser	missense variant	-	NC_000006.12:g.160071998A>G	1000Genomes,ExAC,gnomAD
rs1201008829	p.Glu1512Gly	missense variant	-	NC_000006.12:g.160072001A>G	TOPMed
rs752498022	p.His1513Arg	missense variant	-	NC_000006.12:g.160072004A>G	ExAC,gnomAD
rs17847647	p.Asp1514Ala	missense variant	-	NC_000006.12:g.160072007A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs17847647	p.Asp1514Gly	missense variant	-	NC_000006.12:g.160072007A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs151229775	p.Asp1514His	missense variant	-	NC_000006.12:g.160072006G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs151229775	p.Asp1514Asn	missense variant	-	NC_000006.12:g.160072006G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751755621	p.Val1518Leu	missense variant	-	NC_000006.12:g.160072018G>C	ExAC,gnomAD
rs757379767	p.Thr1519Ala	missense variant	-	NC_000006.12:g.160072021A>G	ExAC,TOPMed,gnomAD
rs1234372812	p.Asp1528Val	missense variant	-	NC_000006.12:g.160072777A>T	TOPMed,gnomAD
rs1480446547	p.Leu1529Met	missense variant	-	NC_000006.12:g.160072779C>A	TOPMed
rs948610594	p.Ser1530Thr	missense variant	-	NC_000006.12:g.160072783G>C	TOPMed
rs769686308	p.Leu1532Val	missense variant	-	NC_000006.12:g.160072788T>G	ExAC,gnomAD
rs140091632	p.Gly1534Val	missense variant	-	NC_000006.12:g.160072795G>T	ESP,TOPMed,gnomAD
rs775466071	p.Ala1536Val	missense variant	-	NC_000006.12:g.160072801C>T	ExAC,gnomAD
rs775466071	p.Ala1536Gly	missense variant	-	NC_000006.12:g.160072801C>G	ExAC,gnomAD
rs762128793	p.Phe1538Tyr	missense variant	-	NC_000006.12:g.160072807T>A	ExAC,gnomAD
NCI-TCGA novel	p.Tyr1542Cys	missense variant	-	NC_000006.12:g.160072819A>G	NCI-TCGA
rs750522726	p.Glu1544Lys	missense variant	-	NC_000006.12:g.160072824G>A	ExAC,TOPMed,gnomAD
rs750522726	p.Glu1544Gln	missense variant	-	NC_000006.12:g.160072824G>C	ExAC,TOPMed,gnomAD
COSM1075605	p.Glu1544Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160072825A>G	NCI-TCGA Cosmic
rs199789899	p.Lys1545Arg	missense variant	-	NC_000006.12:g.160072828A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1208592600	p.Val1548Leu	missense variant	-	NC_000006.12:g.160072836G>C	gnomAD
rs137918443	p.Met1550Val	missense variant	-	NC_000006.12:g.160072842A>G	ESP,ExAC,TOPMed,gnomAD
rs137918443	p.Met1550Leu	missense variant	-	NC_000006.12:g.160072842A>C	ESP,ExAC,TOPMed,gnomAD
rs755432253	p.Ile1552Val	missense variant	-	NC_000006.12:g.160072848A>G	ExAC,gnomAD
rs779282645	p.Ile1552Thr	missense variant	-	NC_000006.12:g.160072849T>C	ExAC,TOPMed,gnomAD
rs752995134	p.Cys1553Trp	missense variant	-	NC_000006.12:g.160072853T>G	ExAC
rs1472678668	p.Glu1557Lys	missense variant	-	NC_000006.12:g.160072863G>A	gnomAD
rs756915938	p.Pro1560Ser	missense variant	-	NC_000006.12:g.160072872C>T	ExAC,gnomAD
rs780885154	p.Pro1561Ser	missense variant	-	NC_000006.12:g.160072875C>T	ExAC,gnomAD
rs745408671	p.Val1563Met	missense variant	-	NC_000006.12:g.160072881G>A	ExAC,TOPMed,gnomAD
rs765800626	p.Ala1565Ser	missense variant	-	NC_000006.12:g.160073215G>T	ExAC,TOPMed,gnomAD
rs765800626	p.Ala1565Thr	missense variant	-	NC_000006.12:g.160073215G>A	ExAC,TOPMed,gnomAD
rs933600614	p.Gln1569Arg	missense variant	-	NC_000006.12:g.160073228A>G	TOPMed,gnomAD
rs1027911466	p.Thr1570Ile	missense variant	-	NC_000006.12:g.160073231C>T	TOPMed,gnomAD
rs952429467	p.Arg1571Gly	missense variant	-	NC_000006.12:g.160073233A>G	gnomAD
NCI-TCGA novel	p.Arg1571Ser	missense variant	-	NC_000006.12:g.160073235G>C	NCI-TCGA
NCI-TCGA novel	p.Ser1573ThrPheSerTerUnk	frameshift	-	NC_000006.12:g.160073240G>-	NCI-TCGA
rs763401293	p.Val1574Met	missense variant	-	NC_000006.12:g.160073242G>A	ExAC,TOPMed,gnomAD
rs1442583876	p.Lys1576Glu	missense variant	-	NC_000006.12:g.160073248A>G	TOPMed
rs1369727038	p.Lys1576Asn	missense variant	-	NC_000006.12:g.160073250G>T	gnomAD
rs1409547711	p.Lys1579Asn	missense variant	-	NC_000006.12:g.160073259G>C	gnomAD
rs1324487606	p.Tyr1583His	missense variant	-	NC_000006.12:g.160073269T>C	gnomAD
NCI-TCGA novel	p.Val1584Ala	missense variant	-	NC_000006.12:g.160073273T>C	NCI-TCGA
rs140858283	p.Val1584Met	missense variant	-	NC_000006.12:g.160073272G>A	ESP,ExAC,gnomAD
rs754510420	p.Leu1590Val	missense variant	-	NC_000006.12:g.160073290C>G	ExAC,TOPMed,gnomAD
rs1210012308	p.Val1591Ala	missense variant	-	NC_000006.12:g.160073294T>C	gnomAD
rs779046654	p.Lys1593Arg	missense variant	-	NC_000006.12:g.160073300A>G	ExAC,TOPMed,gnomAD
rs777630490	p.Pro1597Arg	missense variant	-	NC_000006.12:g.160073312C>G	ExAC,gnomAD
rs1186612547	p.Pro1599Leu	missense variant	-	NC_000006.12:g.160073318C>T	gnomAD
rs1406009345	p.Pro1599Ala	missense variant	-	NC_000006.12:g.160073317C>G	TOPMed
COSM450836	p.Ser1600Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160073321C>T	NCI-TCGA Cosmic
rs776830332	p.Gly1603Ser	missense variant	-	NC_000006.12:g.160073329G>A	ExAC,TOPMed,gnomAD
rs201529415	p.Gly1603Val	missense variant	-	NC_000006.12:g.160073330G>T	1000Genomes,ExAC,gnomAD
rs201529415	p.Gly1603Asp	missense variant	-	NC_000006.12:g.160073330G>A	1000Genomes,ExAC,gnomAD
rs1403666241	p.Tyr1606Ter	stop gained	-	NC_000006.12:g.160073339dup	gnomAD
rs1182255207	p.Lys1607Ter	stop gained	-	NC_000006.12:g.160073341A>T	TOPMed
rs1325386843	p.Ser1608Gly	missense variant	-	NC_000006.12:g.160073344A>G	gnomAD
rs375863720	p.Val1613Met	missense variant	-	NC_000006.12:g.160073359G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1075606	p.Cys1614Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160073363G>A	NCI-TCGA Cosmic
COSM741317	p.Glu1617Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.160073371G>T	NCI-TCGA Cosmic
rs774834122	p.Arg1619Thr	missense variant	-	NC_000006.12:g.160073378G>C	ExAC,gnomAD
rs629849	p.Arg1619Trp	missense variant	-	NC_000006.12:g.160073377A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs629849	p.Arg1619Gly	missense variant	-	NC_000006.12:g.160073377A>G	UniProt,dbSNP
VAR_021312	p.Arg1619Gly	missense variant	-	NC_000006.12:g.160073377A>G	UniProt
rs629849	p.Arg1619Gly	missense variant	-	NC_000006.12:g.160073377A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn1622Asp	missense variant	-	NC_000006.12:g.160073386A>G	NCI-TCGA
rs766092725	p.Asn1622Ser	missense variant	-	NC_000006.12:g.160073387A>G	ExAC,TOPMed,gnomAD
rs766092725	p.Asn1622Thr	missense variant	-	NC_000006.12:g.160073387A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1623Met	missense variant	-	NC_000006.12:g.160073390G>T	NCI-TCGA
COSM3829587	p.Arg1623Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160073390G>A	NCI-TCGA Cosmic
rs753522671	p.Arg1623Trp	missense variant	-	NC_000006.12:g.160073389A>T	ExAC,gnomAD
rs1023651528	p.Met1625Thr	missense variant	-	NC_000006.12:g.160073396T>C	TOPMed,gnomAD
rs1052774805	p.Leu1626Val	missense variant	-	NC_000006.12:g.160073398C>G	gnomAD
rs764873654	p.Ile1627Thr	missense variant	-	NC_000006.12:g.160073402T>C	ExAC,gnomAD
rs879235276	p.Ser1628Ala	missense variant	-	NC_000006.12:g.160073404T>G	gnomAD
rs879235276	p.Ser1628Thr	missense variant	-	NC_000006.12:g.160073404T>A	gnomAD
COSM4930523	p.Lys1631Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160073414A>G	NCI-TCGA Cosmic
rs1458915239	p.Leu1636Phe	missense variant	-	NC_000006.12:g.160073428C>T	TOPMed,gnomAD
rs200330928	p.His1641Tyr	missense variant	-	NC_000006.12:g.160073443C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1336629390	p.His1641Pro	missense variant	-	NC_000006.12:g.160073444A>C	gnomAD
rs369644129	p.Thr1642Lys	missense variant	-	NC_000006.12:g.160073447C>A	ESP,ExAC,gnomAD
rs369644129	p.Thr1642Met	missense variant	-	NC_000006.12:g.160073447C>T	ESP,ExAC,gnomAD
rs769935757	p.Pro1643Leu	missense variant	-	NC_000006.12:g.160073450C>T	ExAC,gnomAD
rs1260061444	p.Ala1645Ser	missense variant	-	NC_000006.12:g.160073455G>T	gnomAD
rs1345717154	p.Ala1645Val	missense variant	-	NC_000006.12:g.160073456C>T	gnomAD
rs148177604	p.Cys1646Ter	stop gained	-	NC_000006.12:g.160073460C>A	ESP,ExAC,TOPMed,gnomAD
rs1187441899	p.Glu1647Gly	missense variant	-	NC_000006.12:g.160073462A>G	gnomAD
rs1485233873	p.Glu1647Lys	missense variant	-	NC_000006.12:g.160073461G>A	gnomAD
rs142013128	p.Ala1649Val	missense variant	-	NC_000006.12:g.160073468C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs568872578	p.Glu1651Lys	missense variant	-	NC_000006.12:g.160073760G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1651Ter	stop gained	-	NC_000006.12:g.160073760G>T	NCI-TCGA
NCI-TCGA novel	p.Cys1652Tyr	missense variant	-	NC_000006.12:g.160073764G>A	NCI-TCGA
COSM3622481	p.Cys1652Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160073763T>G	NCI-TCGA Cosmic
rs1299076768	p.Cys1652Trp	missense variant	-	NC_000006.12:g.160073765T>G	gnomAD
rs773729117	p.Val1654Leu	missense variant	-	NC_000006.12:g.160073769G>T	ExAC,TOPMed,gnomAD
rs773729117	p.Val1654Met	missense variant	-	NC_000006.12:g.160073769G>A	ExAC,TOPMed,gnomAD
rs775880546	p.Asn1656Ile	missense variant	-	NC_000006.12:g.160073776A>T	gnomAD
rs775880546	p.Asn1656Ser	missense variant	-	NC_000006.12:g.160073776A>G	gnomAD
rs532391090	p.Gly1657Glu	missense variant	-	NC_000006.12:g.160073779G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs769637574	p.Ser1658Arg	missense variant	-	NC_000006.12:g.160073781A>C	ExAC,gnomAD
rs762574894	p.Ser1659Phe	missense variant	-	NC_000006.12:g.160073785C>T	ExAC,TOPMed,gnomAD
rs1211777119	p.Ser1659Ala	missense variant	-	NC_000006.12:g.160073784T>G	TOPMed,gnomAD
rs1211777119	p.Ser1659Thr	missense variant	-	NC_000006.12:g.160073784T>A	TOPMed,gnomAD
rs369313134	p.Ile1660Val	missense variant	-	NC_000006.12:g.160073787A>G	ESP,ExAC,TOPMed,gnomAD
rs369313134	p.Ile1660Leu	missense variant	-	NC_000006.12:g.160073787A>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val1661Phe	missense variant	-	NC_000006.12:g.160073790G>T	NCI-TCGA
NCI-TCGA novel	p.Asp1662Asn	missense variant	-	NC_000006.12:g.160073793G>A	NCI-TCGA
COSM3622482	p.Pro1665Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160073803C>T	NCI-TCGA Cosmic
rs1177909205	p.Ile1667Thr	missense variant	-	NC_000006.12:g.160073809T>C	TOPMed
rs968510287	p.Ile1667Val	missense variant	-	NC_000006.12:g.160073808A>G	TOPMed
rs1470028518	p.His1668Arg	missense variant	-	NC_000006.12:g.160073812A>G	TOPMed
rs774207329	p.Arg1669Cys	missense variant	-	NC_000006.12:g.160073814C>T	ExAC,TOPMed,gnomAD
rs774207329	p.Arg1669Gly	missense variant	-	NC_000006.12:g.160073814C>G	ExAC,TOPMed,gnomAD
rs767428797	p.Arg1669His	missense variant	-	NC_000006.12:g.160073815G>A	ExAC,TOPMed,gnomAD
rs1023665073	p.Thr1670Ile	missense variant	-	NC_000006.12:g.160073818C>T	gnomAD
rs755869795	p.Gly1672Val	missense variant	-	NC_000006.12:g.160073824G>T	ExAC,TOPMed,gnomAD
rs1251242695	p.Gly1672Ser	missense variant	-	NC_000006.12:g.160073823G>A	TOPMed
rs780301041	p.Glu1674Gly	missense variant	-	NC_000006.12:g.160073830A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp1677Asn	missense variant	-	NC_000006.12:g.160073838G>A	NCI-TCGA
rs754033506	p.Asp1677Gly	missense variant	-	NC_000006.12:g.160073839A>G	ExAC,TOPMed,gnomAD
rs1435649032	p.Ser1679Asn	missense variant	-	NC_000006.12:g.160073845G>A	gnomAD
rs759032483	p.Asp1681Gly	missense variant	-	NC_000006.12:g.160073851A>G	ExAC,gnomAD
rs139703298	p.Asp1681His	missense variant	-	NC_000006.12:g.160073850G>C	ESP,ExAC,TOPMed,gnomAD
rs139703298	p.Asp1681Tyr	missense variant	-	NC_000006.12:g.160073850G>T	ESP,ExAC,TOPMed,gnomAD
rs369928098	p.Asp1682Ala	missense variant	-	NC_000006.12:g.160073854A>C	ExAC,gnomAD
rs369928098	p.Asp1682Gly	missense variant	-	NC_000006.12:g.160073854A>G	ExAC,gnomAD
rs369928098	p.Asp1682Val	missense variant	-	NC_000006.12:g.160073854A>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser1684Phe	missense variant	-	NC_000006.12:g.160073860C>T	NCI-TCGA
rs747421150	p.Asp1685Asn	missense variant	-	NC_000006.12:g.160073862G>A	ExAC,gnomAD
rs1319097421	p.Asn1687His	missense variant	-	NC_000006.12:g.160073868A>C	TOPMed
rs144685922	p.Asn1687Ser	missense variant	-	NC_000006.12:g.160073869A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1689Val	missense variant	-	NC_000006.12:g.160073875A>T	NCI-TCGA
COSM6173003	p.Phe1690Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160073879C>G	NCI-TCGA Cosmic
rs562847817	p.Ile1692Val	missense variant	-	NC_000006.12:g.160073883A>G	1000Genomes,ExAC,gnomAD
rs768297167	p.Ile1694Val	missense variant	-	NC_000006.12:g.160073889A>G	ExAC,TOPMed,gnomAD
rs11552587	p.Gln1696Arg	missense variant	-	NC_000006.12:g.160073896A>G	UniProt,dbSNP
VAR_050430	p.Gln1696Arg	missense variant	-	NC_000006.12:g.160073896A>G	UniProt
rs11552587	p.Gln1696Arg	missense variant	-	NC_000006.12:g.160073896A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767478178	p.Pro1697Ser	missense variant	-	NC_000006.12:g.160073898C>T	ExAC,TOPMed,gnomAD
rs773108828	p.Pro1700His	missense variant	-	NC_000006.12:g.160073908C>A	ExAC,gnomAD
rs548541444	p.Met1701Val	missense variant	-	NC_000006.12:g.160073910A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Met1701Ile	missense variant	-	NC_000006.12:g.160073912G>A	NCI-TCGA
NCI-TCGA novel	p.Gly1703Ter	stop gained	-	NC_000006.12:g.160073916G>T	NCI-TCGA
NCI-TCGA novel	p.Ala1708Ser	missense variant	-	NC_000006.12:g.160073931G>T	NCI-TCGA
rs199662672	p.Ala1708Val	missense variant	-	NC_000006.12:g.160073932C>T	1000Genomes,ExAC,gnomAD
rs1381095258	p.Gly1709Arg	missense variant	-	NC_000006.12:g.160073934G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gly1709Val	missense variant	-	NC_000006.12:g.160073935G>T	NCI-TCGA
rs185442936	p.Ala1710Thr	missense variant	-	NC_000006.12:g.160073937G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs975701822	p.Ala1711Thr	missense variant	-	NC_000006.12:g.160073940G>A	TOPMed,gnomAD
rs778474491	p.Cys1713Tyr	missense variant	-	NC_000006.12:g.160073947G>A	ExAC,gnomAD
rs1315730146	p.Lys1714Arg	missense variant	-	NC_000006.12:g.160073950A>G	gnomAD
NCI-TCGA novel	p.Lys1714Ile	missense variant	-	NC_000006.12:g.160073950A>T	NCI-TCGA
rs1185511688	p.Lys1714Gln	missense variant	-	NC_000006.12:g.160073949A>C	TOPMed
rs757770622	p.Val1715Leu	missense variant	-	NC_000006.12:g.160073952G>C	ExAC,TOPMed,gnomAD
rs1484454938	p.Ile1717Val	missense variant	-	NC_000006.12:g.160073958A>G	gnomAD
rs370221567	p.Gly1719Arg	missense variant	-	NC_000006.12:g.160073964G>C	ESP,ExAC,TOPMed,gnomAD
rs370221567	p.Gly1719Ser	missense variant	-	NC_000006.12:g.160073964G>A	ESP,ExAC,TOPMed,gnomAD
rs1472626277	p.Pro1720Ser	missense variant	-	NC_000006.12:g.160073967C>T	gnomAD
rs921630898	p.Pro1721Ser	missense variant	-	NC_000006.12:g.160073970C>T	TOPMed
rs1052402154	p.Ile1722Val	missense variant	-	NC_000006.12:g.160073973A>G	TOPMed,gnomAD
rs1052402154	p.Ile1722Leu	missense variant	-	NC_000006.12:g.160073973A>C	TOPMed,gnomAD
rs375412653	p.Ile1722Met	missense variant	-	NC_000006.12:g.160073975A>G	ESP,gnomAD
rs1352794128	p.Asp1723Val	missense variant	-	NC_000006.12:g.160075848A>T	gnomAD
rs772819799	p.Arg1726Trp	missense variant	-	NC_000006.12:g.160075856C>T	TOPMed,gnomAD
rs747826639	p.Arg1726Gln	missense variant	-	NC_000006.12:g.160075857G>A	ExAC,gnomAD
rs771649332	p.Gly1729Glu	missense variant	-	NC_000006.12:g.160075866G>A	ExAC,gnomAD
rs1303065635	p.Pro1730Leu	missense variant	-	NC_000006.12:g.160075869C>T	gnomAD
rs770844502	p.Asn1734Ser	missense variant	-	NC_000006.12:g.160075881A>G	ExAC,TOPMed,gnomAD
COSM3622483	p.Pro1735Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160075884C>T	NCI-TCGA Cosmic
rs890028236	p.Glu1739Gln	missense variant	-	NC_000006.12:g.160075895G>C	TOPMed,gnomAD
rs1364656789	p.Tyr1741Cys	missense variant	-	NC_000006.12:g.160075902A>G	TOPMed,gnomAD
rs1436698209	p.Phe1744Val	missense variant	-	NC_000006.12:g.160075910T>G	gnomAD
rs776600652	p.Glu1745Gly	missense variant	-	NC_000006.12:g.160075914A>G	ExAC,gnomAD
rs1254805863	p.Ser1746Asn	missense variant	-	NC_000006.12:g.160075917G>A	gnomAD
rs1192947570	p.Ser1747Asn	missense variant	-	NC_000006.12:g.160075920G>A	TOPMed,gnomAD
rs1467026394	p.Ser1747Gly	missense variant	-	NC_000006.12:g.160075919A>G	gnomAD
rs1390503860	p.Thr1748Asn	missense variant	-	NC_000006.12:g.160075923C>A	TOPMed,gnomAD
rs1390503860	p.Thr1748Ser	missense variant	-	NC_000006.12:g.160075923C>G	TOPMed,gnomAD
rs1390503860	p.Thr1748Ile	missense variant	-	NC_000006.12:g.160075923C>T	TOPMed,gnomAD
rs142965315	p.Ala1752Val	missense variant	-	NC_000006.12:g.160075935C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763280318	p.Lys1754Arg	missense variant	-	NC_000006.12:g.160075941A>G	ExAC,gnomAD
rs1165490257	p.His1755Leu	missense variant	-	NC_000006.12:g.160075944A>T	gnomAD
NCI-TCGA novel	p.His1755Tyr	missense variant	-	NC_000006.12:g.160075943C>T	NCI-TCGA
rs1159275418	p.Phe1756Tyr	missense variant	-	NC_000006.12:g.160075947T>A	TOPMed
rs760407124	p.Asn1757Ser	missense variant	-	NC_000006.12:g.160075950A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr1758His	missense variant	-	NC_000006.12:g.160075952T>C	NCI-TCGA
rs751755752	p.Ser1760Leu	missense variant	-	NC_000006.12:g.160075959C>T	ExAC,TOPMed,gnomAD
rs750958561	p.Ile1762Val	missense variant	-	NC_000006.12:g.160075964A>G	ExAC,TOPMed,gnomAD
rs780405127	p.Ala1763Thr	missense variant	-	NC_000006.12:g.160075967G>A	ExAC,gnomAD
rs758109180	p.Ala1763Val	missense variant	-	NC_000006.12:g.160075968C>T	ExAC,TOPMed,gnomAD
rs780405127	p.Ala1763Ser	missense variant	-	NC_000006.12:g.160075967G>T	ExAC,gnomAD
rs770452676	p.His1765Arg	missense variant	-	NC_000006.12:g.160075974A>G	ExAC,gnomAD
rs952804845	p.Lys1767Arg	missense variant	-	NC_000006.12:g.160075980A>G	TOPMed
rs1332059464	p.Lys1767Asn	missense variant	-	NC_000006.12:g.160075981G>C	gnomAD
NCI-TCGA novel	p.Arg1768Lys	missense variant	-	NC_000006.12:g.160075983G>A	NCI-TCGA
rs780520893	p.Arg1768Gly	missense variant	-	NC_000006.12:g.160075982A>G	ExAC,gnomAD
rs745850167	p.Val1770Met	missense variant	-	NC_000006.12:g.160075988G>A	ExAC,gnomAD
rs769559312	p.Ser1771Gly	missense variant	-	NC_000006.12:g.160075991A>G	ExAC,gnomAD
rs756446435	p.Thr1774Ala	missense variant	-	NC_000006.12:g.160078204A>G	gnomAD
rs756185232	p.Thr1774Met	missense variant	-	NC_000006.12:g.160078205C>T	ExAC,TOPMed,gnomAD
rs756446435	p.Thr1774Ser	missense variant	-	NC_000006.12:g.160078204A>T	gnomAD
NCI-TCGA novel	p.Leu1778Val	missense variant	-	NC_000006.12:g.160078216T>G	NCI-TCGA
COSM6105725	p.Ser1781Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160078225A>T	NCI-TCGA Cosmic
rs148892832	p.Ser1781Asn	missense variant	-	NC_000006.12:g.160078226G>A	ESP,ExAC,gnomAD
rs142698228	p.Glu1782Lys	missense variant	-	NC_000006.12:g.160078228G>A	ESP,ExAC,gnomAD
rs1278932398	p.Asp1784Asn	missense variant	-	NC_000006.12:g.160078234G>A	TOPMed,gnomAD
rs773403015	p.Val1786Met	missense variant	-	NC_000006.12:g.160078240G>A	ExAC,TOPMed,gnomAD
rs760669715	p.Glu1788Gln	missense variant	-	NC_000006.12:g.160078246G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu1788Lys	missense variant	-	NC_000006.12:g.160078246G>A	NCI-TCGA
rs1210449057	p.Thr1791Asn	missense variant	-	NC_000006.12:g.160078256C>A	gnomAD
rs371430710	p.Val1794Ile	missense variant	-	NC_000006.12:g.160078264G>A	ESP,ExAC,TOPMed,gnomAD
rs754279467	p.Pro1796His	missense variant	-	NC_000006.12:g.160078271C>A	-
NCI-TCGA novel	p.Glu1798Ter	stop gained	-	NC_000006.12:g.160078276G>T	NCI-TCGA
rs1363773918	p.GluValArgMet1798GluValArgLysTerGlyUnk	stop gained	-	NC_000006.12:g.160078285_160078286insAGTGAGGA	gnomAD
rs765622731	p.Glu1798Gln	missense variant	-	NC_000006.12:g.160078276G>C	ExAC,TOPMed,gnomAD
rs752939271	p.Glu1798Gly	missense variant	-	NC_000006.12:g.160078277A>G	ExAC,gnomAD
rs1287176671	p.Val1799Met	missense variant	-	NC_000006.12:g.160078279G>A	gnomAD
rs767070950	p.Met1801Ile	missense variant	-	NC_000006.12:g.160078287G>A	ExAC,TOPMed,gnomAD
rs767070950	p.Met1801Ile	missense variant	-	NC_000006.12:g.160078287G>T	ExAC,TOPMed,gnomAD
rs749989186	p.Asp1802Val	missense variant	-	NC_000006.12:g.160078289A>T	ExAC,TOPMed,gnomAD
rs755664067	p.Thr1805Ser	missense variant	-	NC_000006.12:g.160078298C>G	ExAC,gnomAD
rs1331680482	p.Thr1807Ile	missense variant	-	NC_000006.12:g.160078304C>T	TOPMed,gnomAD
rs1300907853	p.Glu1809Lys	missense variant	-	NC_000006.12:g.160078309G>A	gnomAD
rs772408552	p.Leu1812Pro	missense variant	-	NC_000006.12:g.160078319T>C	ExAC,gnomAD
rs189986553	p.Leu1812Phe	missense variant	-	NC_000006.12:g.160078318C>T	1000Genomes,ExAC,gnomAD
rs150924677	p.Tyr1813Cys	missense variant	-	NC_000006.12:g.160078322A>G	ESP,ExAC,TOPMed,gnomAD
rs747144122	p.Asn1816Asp	missense variant	-	NC_000006.12:g.160078330A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser1818IlePheSerTerUnkUnk	frameshift	-	NC_000006.12:g.160078335_160078336insAT	NCI-TCGA
rs776652642	p.Ser1818Phe	missense variant	-	NC_000006.12:g.160078337C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser1819LysPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.160078337_160078338insCAAGGCTCATCTGACCCCTAGGAGTT	NCI-TCGA
rs368727465	p.Ser1819Arg	missense variant	-	NC_000006.12:g.160078341C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765677611	p.Leu1820Phe	missense variant	-	NC_000006.12:g.160078342C>T	ExAC,gnomAD
rs775987437	p.Thr1822Ser	missense variant	-	NC_000006.12:g.160078348A>T	ExAC,gnomAD
rs115412888	p.Thr1822Met	missense variant	-	NC_000006.12:g.160078349C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1311786	p.Val1827Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160079580G>C	NCI-TCGA Cosmic
rs1387966658	p.Thr1828Ala	missense variant	-	NC_000006.12:g.160079583A>G	TOPMed,gnomAD
rs1387966658	p.Thr1828Ser	missense variant	-	NC_000006.12:g.160079583A>T	TOPMed,gnomAD
rs753467612	p.Arg1829Cys	missense variant	-	NC_000006.12:g.160079586C>T	ExAC,TOPMed,gnomAD
rs765271743	p.Arg1829His	missense variant	-	NC_000006.12:g.160079587G>A	ExAC,TOPMed,gnomAD
rs753467612	p.Arg1829Gly	missense variant	-	NC_000006.12:g.160079586C>G	ExAC,TOPMed,gnomAD
rs758315605	p.Asp1830Asn	missense variant	-	NC_000006.12:g.160079589G>A	ExAC,TOPMed,gnomAD
rs200083721	p.Ser1831Leu	missense variant	-	NC_000006.12:g.160079593C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs757535144	p.Arg1832Cys	missense variant	-	NC_000006.12:g.160079595C>T	ExAC,TOPMed,gnomAD
rs8191904	p.Arg1832His	missense variant	-	NC_000006.12:g.160079596G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs8191904	p.Arg1832His	missense variant	-	NC_000006.12:g.160079596G>A	UniProt,dbSNP
VAR_021313	p.Arg1832His	missense variant	-	NC_000006.12:g.160079596G>A	UniProt
rs140658120	p.Val1836Ile	missense variant	-	NC_000006.12:g.160079607G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs545752120	p.Val1843Ala	missense variant	-	NC_000006.12:g.160079629T>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gly1844Trp	missense variant	-	NC_000006.12:g.160079631G>T	NCI-TCGA
rs1343184710	p.Gly1844Glu	missense variant	-	NC_000006.12:g.160079632G>A	gnomAD
rs1450392237	p.Gly1844Arg	missense variant	-	NC_000006.12:g.160079631G>C	TOPMed
rs1407368814	p.Pro1845Thr	missense variant	-	NC_000006.12:g.160079634C>A	TOPMed
NCI-TCGA novel	p.Glu1846Gln	missense variant	-	NC_000006.12:g.160079637G>C	NCI-TCGA
rs1456148760	p.Gly1849Ser	missense variant	-	NC_000006.12:g.160079646G>A	TOPMed
rs770749703	p.Lys1851Asn	missense variant	-	NC_000006.12:g.160079654G>C	ExAC,gnomAD
rs1328421200	p.Lys1851Glu	missense variant	-	NC_000006.12:g.160079652A>G	TOPMed,gnomAD
rs1376367964	p.Asp1852Gly	missense variant	-	NC_000006.12:g.160079656A>G	gnomAD
NCI-TCGA novel	p.Ser1859Leu	missense variant	-	NC_000006.12:g.160079677C>T	NCI-TCGA
rs8191905	p.Gly1860Asp	missense variant	-	NC_000006.12:g.160079680G>A	UniProt,dbSNP
VAR_021314	p.Gly1860Asp	missense variant	-	NC_000006.12:g.160079680G>A	UniProt
rs8191905	p.Gly1860Asp	missense variant	-	NC_000006.12:g.160079680G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr1861GlyPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.160079682_160079689ACCAAGGG>-	NCI-TCGA
rs762813165	p.Lys1862Arg	missense variant	-	NC_000006.12:g.160079686A>G	ExAC,gnomAD
rs201170949	p.Ala1864Thr	missense variant	-	NC_000006.12:g.160079691G>A	1000Genomes,ExAC,gnomAD
rs201170949	p.Ala1864Ser	missense variant	-	NC_000006.12:g.160079691G>T	1000Genomes,ExAC,gnomAD
rs751393815	p.Ala1864Val	missense variant	-	NC_000006.12:g.160079692C>T	ExAC,TOPMed,gnomAD
rs767247253	p.Arg1868Gln	missense variant	-	NC_000006.12:g.160079704G>A	ExAC,TOPMed,gnomAD
rs773104050	p.Arg1868Trp	missense variant	-	NC_000006.12:g.160079703C>T	ExAC,TOPMed,gnomAD
rs750671616	p.Gln1870Ter	stop gained	-	NC_000006.12:g.160079709C>T	ExAC,gnomAD
rs901797122	p.Gln1870His	missense variant	-	NC_000006.12:g.160079711A>T	TOPMed
rs1466240932	p.Asp1875Tyr	missense variant	-	NC_000006.12:g.160079724G>T	TOPMed
rs756293633	p.Arg1877Ser	missense variant	-	NC_000006.12:g.160079732G>T	ExAC,gnomAD
COSM1311787	p.Glu1881Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160079742G>C	NCI-TCGA Cosmic
rs780010061	p.Ala1882Val	missense variant	-	NC_000006.12:g.160079746C>T	ExAC,TOPMed,gnomAD
rs372315069	p.Val1884Ile	missense variant	-	NC_000006.12:g.160079751G>A	NCI-TCGA,NCI-TCGA Cosmic
rs372315069	p.Val1884Ile	missense variant	-	NC_000006.12:g.160079751G>A	ExAC,TOPMed,gnomAD
rs562128670	p.Ser1886Gly	missense variant	-	NC_000006.12:g.160079757A>G	1000Genomes,ExAC,gnomAD
rs374125303	p.Val1888Leu	missense variant	-	NC_000006.12:g.160079763G>T	ESP,ExAC,TOPMed,gnomAD
rs374125303	p.Val1888Met	missense variant	-	NC_000006.12:g.160079763G>A	ESP,ExAC,TOPMed,gnomAD
rs374125303	p.Val1888Met	missense variant	-	NC_000006.12:g.160079763G>A	NCI-TCGA,NCI-TCGA Cosmic
rs769433685	p.Asp1891Asn	missense variant	-	NC_000006.12:g.160079772G>A	ExAC,TOPMed,gnomAD
rs149633151	p.Arg1892His	missense variant	-	NC_000006.12:g.160079776G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149633151	p.Arg1892Leu	missense variant	-	NC_000006.12:g.160079776G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774924314	p.Arg1892Ser	missense variant	-	NC_000006.12:g.160079775C>A	ExAC,gnomAD
rs774924314	p.Arg1892Cys	missense variant	-	NC_000006.12:g.160079775C>T	NCI-TCGA
rs774924314	p.Arg1892Cys	missense variant	-	NC_000006.12:g.160079775C>T	ExAC,gnomAD
rs370980819	p.Pro1895Ala	missense variant	-	NC_000006.12:g.160079784C>G	ESP,ExAC,TOPMed,gnomAD
rs754114803	p.Asp1898Asn	missense variant	-	NC_000006.12:g.160080134G>A	ExAC,gnomAD
COSM3622484	p.Gly1900Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160080141G>A	NCI-TCGA Cosmic
rs373759284	p.Gly1900Ser	missense variant	-	NC_000006.12:g.160080140G>A	ESP,ExAC,TOPMed,gnomAD
rs76130099	p.Val1901Ile	missense variant	-	NC_000006.12:g.160080143G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778342736	p.Pro1902Leu	missense variant	-	NC_000006.12:g.160080147C>T	ExAC,gnomAD
rs1166270506	p.Pro1906Ala	missense variant	-	NC_000006.12:g.160080158C>G	gnomAD
rs758648214	p.Ile1908Thr	missense variant	-	NC_000006.12:g.160080165T>C	ExAC,TOPMed,gnomAD
rs140022962	p.Ile1908Val	missense variant	-	NC_000006.12:g.160080164A>G	ESP,ExAC,TOPMed,gnomAD
rs8191908	p.Ile1908Met	missense variant	-	NC_000006.12:g.160080166A>G	UniProt,dbSNP
VAR_021315	p.Ile1908Met	missense variant	-	NC_000006.12:g.160080166A>G	UniProt
rs8191908	p.Ile1908Met	missense variant	-	NC_000006.12:g.160080166A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe1909Val	missense variant	-	NC_000006.12:g.160080167T>G	NCI-TCGA
rs768236699	p.Asn1910Ser	missense variant	-	NC_000006.12:g.160080171A>G	ExAC,TOPMed,gnomAD
rs1350779559	p.Asn1910Asp	missense variant	-	NC_000006.12:g.160080170A>G	TOPMed
rs1268085517	p.Lys1912Glu	missense variant	-	NC_000006.12:g.160080176A>G	gnomAD
rs944423333	p.Ser1913Gly	missense variant	-	NC_000006.12:g.160080179A>G	TOPMed
rs778452376	p.Ser1913Arg	missense variant	-	NC_000006.12:g.160080181C>G	ExAC,gnomAD
rs772035874	p.Glu1915Lys	missense variant	-	NC_000006.12:g.160080185G>A	ExAC,gnomAD
rs772035874	p.Glu1915Gln	missense variant	-	NC_000006.12:g.160080185G>C	ExAC,gnomAD
rs1332505016	p.Glu1916Val	missense variant	-	NC_000006.12:g.160080189A>T	gnomAD
rs1209179549	p.Cys1917Ser	missense variant	-	NC_000006.12:g.160080191T>A	gnomAD
rs773177693	p.Ile1919Thr	missense variant	-	NC_000006.12:g.160080198T>C	ExAC,TOPMed,gnomAD
rs368781979	p.Ala1923Val	missense variant	-	NC_000006.12:g.160080210C>T	ESP,ExAC,TOPMed,gnomAD
rs1261375324	p.Cys1927Phe	missense variant	-	NC_000006.12:g.160080222G>T	gnomAD
rs1162738975	p.Thr1929Lys	missense variant	-	NC_000006.12:g.160080228C>A	TOPMed
rs770792024	p.Thr1929Ala	missense variant	-	NC_000006.12:g.160080227A>G	ExAC,TOPMed,gnomAD
rs150759811	p.Ala1931Val	missense variant	-	NC_000006.12:g.160080234C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1932Tyr	missense variant	-	NC_000006.12:g.160080236G>T	NCI-TCGA
rs372344925	p.Asp1932Asn	missense variant	-	NC_000006.12:g.160080236G>A	ESP,ExAC,TOPMed,gnomAD
COSM3410750	p.Tyr1933Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160080240A>G	NCI-TCGA Cosmic
rs1386087222	p.Asp1934Asn	missense variant	-	NC_000006.12:g.160080242G>A	TOPMed,gnomAD
rs1386087222	p.Asp1934His	missense variant	-	NC_000006.12:g.160080242G>C	TOPMed,gnomAD
rs375436902	p.His1937Gln	missense variant	-	NC_000006.12:g.160080253C>G	ESP,ExAC,TOPMed,gnomAD
rs752136199	p.Glu1938Gly	missense variant	-	NC_000006.12:g.160080255A>G	ExAC,gnomAD
rs532240139	p.Glu1938Lys	missense variant	-	NC_000006.12:g.160080254G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1415020646	p.Gly1940Asp	missense variant	-	NC_000006.12:g.160080261G>A	gnomAD
rs1314117559	p.Phe1941Ser	missense variant	-	NC_000006.12:g.160080264T>C	gnomAD
rs781627472	p.His1944Pro	missense variant	-	NC_000006.12:g.160080273A>C	ExAC,gnomAD
rs754691366	p.Ser1945Thr	missense variant	-	NC_000006.12:g.160080275T>A	ExAC,gnomAD
rs754691366	p.Ser1945Ala	missense variant	-	NC_000006.12:g.160080275T>G	ExAC,gnomAD
rs745709620	p.Asn1946Asp	missense variant	-	NC_000006.12:g.160083952A>G	ExAC,gnomAD
rs775356549	p.Tyr1948Phe	missense variant	-	NC_000006.12:g.160083959A>T	ExAC,TOPMed,gnomAD
rs775356549	p.Tyr1948Cys	missense variant	-	NC_000006.12:g.160083959A>G	ExAC,TOPMed,gnomAD
rs769740592	p.Tyr1948His	missense variant	-	NC_000006.12:g.160083958T>C	ExAC,gnomAD
rs1232823214	p.Arg1949Trp	missense variant	-	NC_000006.12:g.160083961C>T	TOPMed,gnomAD
rs373029226	p.Arg1949Gln	missense variant	-	NC_000006.12:g.160083962G>A	ESP,ExAC,gnomAD
COSM74982	p.Arg1949Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160083961C>G	NCI-TCGA Cosmic
rs1186334338	p.Ser1951Thr	missense variant	-	NC_000006.12:g.160083967T>A	TOPMed
rs149952711	p.Ser1952Ile	missense variant	-	NC_000006.12:g.160083971G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149952711	p.Ser1952Asn	missense variant	-	NC_000006.12:g.160083971G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1217094060	p.Ile1953Val	missense variant	-	NC_000006.12:g.160083973A>G	TOPMed
COSM1441969	p.Ile1954Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160083978A>G	NCI-TCGA Cosmic
rs773728864	p.Phe1955Leu	missense variant	-	NC_000006.12:g.160083981T>A	ExAC,gnomAD
rs183027886	p.Lys1956Asn	missense variant	-	NC_000006.12:g.160083984G>C	1000Genomes,TOPMed,gnomAD
rs761132104	p.Asp1958Glu	missense variant	-	NC_000006.12:g.160083990T>G	ExAC,TOPMed,gnomAD
rs1234527802	p.Asp1960Val	missense variant	-	NC_000006.12:g.160083995A>T	TOPMed
rs766736217	p.Asp1960Tyr	missense variant	-	NC_000006.12:g.160083994G>T	ExAC
COSM6105724	p.Glu1961Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160083997G>A	NCI-TCGA Cosmic
rs1294346995	p.Asp1962Gly	missense variant	-	NC_000006.12:g.160084001A>G	TOPMed
rs769074376	p.Ile1963Leu	missense variant	-	NC_000006.12:g.160084003A>C	TOPMed,gnomAD
rs1374266364	p.Ile1963Thr	missense variant	-	NC_000006.12:g.160084004T>C	gnomAD
rs758129169	p.Ile1963Met	missense variant	-	NC_000006.12:g.160084005T>G	ExAC,gnomAD
rs1169850723	p.Arg1965Gly	missense variant	-	NC_000006.12:g.160084009A>G	TOPMed,gnomAD
rs529803102	p.Gln1967His	missense variant	-	NC_000006.12:g.160084017A>C	1000Genomes,ExAC,gnomAD
rs538340074	p.Val1968Ile	missense variant	-	NC_000006.12:g.160084018G>A	ExAC,TOPMed,gnomAD
rs375077970	p.Arg1973His	missense variant	-	NC_000006.12:g.160084034G>A	ESP,ExAC,TOPMed,gnomAD
rs780802676	p.Arg1973Cys	missense variant	-	NC_000006.12:g.160084033C>T	ExAC,TOPMed,gnomAD
rs1463046447	p.Gly1974Val	missense variant	-	NC_000006.12:g.160084037G>T	TOPMed
rs1296482286	p.Asp1976His	missense variant	-	NC_000006.12:g.160084042G>C	TOPMed,gnomAD
rs145118454	p.Asp1976Val	missense variant	-	NC_000006.12:g.160084043A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1029565475	p.Val1977Leu	missense variant	-	NC_000006.12:g.160084045G>C	TOPMed
COSM1441970	p.Thr1978Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160084048A>G	NCI-TCGA Cosmic
rs749029256	p.Phe1979Leu	missense variant	-	NC_000006.12:g.160084051T>C	ExAC,gnomAD
rs768961701	p.Cys1987Arg	missense variant	-	NC_000006.12:g.160084075T>C	ExAC,gnomAD
rs1216123894	p.Pro1988Arg	missense variant	-	NC_000006.12:g.160084079C>G	gnomAD
rs1264009022	p.Lys1990Arg	missense variant	-	NC_000006.12:g.160084085A>G	gnomAD
rs778980218	p.Leu1992Met	missense variant	-	NC_000006.12:g.160084090T>A	ExAC,gnomAD
rs1273451096	p.Cys1994Tyr	missense variant	-	NC_000006.12:g.160084097G>A	gnomAD
rs1263486841	p.Lys1995Arg	missense variant	-	NC_000006.12:g.160084100A>G	gnomAD
rs772168682	p.Phe1996Leu	missense variant	-	NC_000006.12:g.160084104C>A	ExAC,gnomAD
rs370080412	p.Val1997Ile	missense variant	-	NC_000006.12:g.160084105G>A	ESP,ExAC,TOPMed,gnomAD
rs761185315	p.Gln1998Arg	missense variant	-	NC_000006.12:g.160084109A>G	ExAC,TOPMed,gnomAD
rs1215045100	p.Lys1999Thr	missense variant	-	NC_000006.12:g.160084112A>C	TOPMed
rs1162632668	p.Tyr2003His	missense variant	-	NC_000006.12:g.160084123T>C	gnomAD
rs777047674	p.Asp2004Asn	missense variant	-	NC_000006.12:g.160084126G>A	ExAC,gnomAD
rs763859179	p.Arg2006Trp	missense variant	-	NC_000006.12:g.160084132C>T	ExAC,TOPMed,gnomAD
rs111641476	p.Arg2006Gln	missense variant	-	NC_000006.12:g.160084133G>A	TOPMed,gnomAD
rs1356211976	p.Ser2009Thr	missense variant	-	NC_000006.12:g.160084141T>A	gnomAD
rs1230492914	p.Ser2009Tyr	missense variant	-	NC_000006.12:g.160084142C>A	gnomAD
rs1321476962	p.Leu2011Phe	missense variant	-	NC_000006.12:g.160084147C>T	gnomAD
rs756184762	p.Gly2013Arg	missense variant	-	NC_000006.12:g.160084153G>A	ExAC,gnomAD
rs1443265407	p.Ser2014Phe	missense variant	-	NC_000006.12:g.160084157C>T	TOPMed
rs780107601	p.Ser2016Phe	missense variant	-	NC_000006.12:g.160084163C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu2017Val	missense variant	-	NC_000006.12:g.160084165C>G	NCI-TCGA
rs1297889559	p.His2019Arg	missense variant	-	NC_000006.12:g.160084172A>G	TOPMed
rs1805075	p.Asn2020Ser	missense variant	-	NC_000006.12:g.160084175A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748324423	p.Asn2020Lys	missense variant	-	NC_000006.12:g.160084176C>G	ExAC,TOPMed,gnomAD
rs1255456660	p.Asn2020Asp	missense variant	-	NC_000006.12:g.160084174A>G	TOPMed,gnomAD
rs1378274585	p.Gly2021Arg	missense variant	-	NC_000006.12:g.160084177G>A	gnomAD
rs1196014783	p.Ser2023Leu	missense variant	-	NC_000006.12:g.160084184C>T	TOPMed
rs771898423	p.Tyr2025Cys	missense variant	-	NC_000006.12:g.160085000A>G	ExAC,TOPMed,gnomAD
rs771898423	p.Tyr2025Ser	missense variant	-	NC_000006.12:g.160085000A>C	ExAC,TOPMed,gnomAD
rs760362203	p.Ile2026Val	missense variant	-	NC_000006.12:g.160085002A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu2028Met	missense variant	-	NC_000006.12:g.160085008C>A	NCI-TCGA
rs1002275377	p.Ile2032Met	missense variant	-	NC_000006.12:g.160085022A>G	TOPMed,gnomAD
rs765810160	p.Tyr2033His	missense variant	-	NC_000006.12:g.160085023T>C	ExAC,TOPMed,gnomAD
rs1408527688	p.Lys2034Glu	missense variant	-	NC_000006.12:g.160085026A>G	TOPMed
COSM1441971	p.Gly2035Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160085030G>A	NCI-TCGA Cosmic
rs1189740682	p.Pro2036Ser	missense variant	-	NC_000006.12:g.160085032C>T	TOPMed
NCI-TCGA novel	p.Gly2038Asp	missense variant	-	NC_000006.12:g.160085039G>A	NCI-TCGA
rs1465567643	p.Gly2038Ala	missense variant	-	NC_000006.12:g.160085039G>C	gnomAD
rs759451382	p.Cys2039Tyr	missense variant	-	NC_000006.12:g.160085042G>A	ExAC,gnomAD
rs201916817	p.Ser2040Pro	missense variant	-	NC_000006.12:g.160085044T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1433814199	p.Arg2042Lys	missense variant	-	NC_000006.12:g.160085051G>A	gnomAD
rs752475324	p.Ala2043Val	missense variant	-	NC_000006.12:g.160085054C>T	ExAC,gnomAD
COSM3410751	p.Ala2043Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160085053G>A	NCI-TCGA Cosmic
rs758170760	p.Thr2050Ala	missense variant	-	NC_000006.12:g.160085074A>G	ExAC,gnomAD
rs763832100	p.Thr2050Ile	missense variant	-	NC_000006.12:g.160085075C>T	ExAC,TOPMed,gnomAD
rs535817203	p.Thr2051Ala	missense variant	-	NC_000006.12:g.160085077A>G	1000Genomes,ExAC,gnomAD
rs757407683	p.Gly2052Ser	missense variant	-	NC_000006.12:g.160085080G>A	ExAC,gnomAD
rs1449697283	p.Val2054Ile	missense variant	-	NC_000006.12:g.160085086G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val2054Phe	missense variant	-	NC_000006.12:g.160085086G>T	NCI-TCGA
rs1449697283	p.Val2054Ile	missense variant	-	NC_000006.12:g.160085086G>A	TOPMed,gnomAD
rs745953697	p.Gln2055His	missense variant	-	NC_000006.12:g.160085091G>C	ExAC,TOPMed,gnomAD
rs1199912740	p.Leu2059Phe	missense variant	-	NC_000006.12:g.160085101C>T	gnomAD
rs780584809	p.Val2060Ile	missense variant	-	NC_000006.12:g.160085104G>A	ExAC,gnomAD
rs749763625	p.Thr2062Met	missense variant	-	NC_000006.12:g.160085111C>T	ExAC,TOPMed,gnomAD
rs143509112	p.Gly2066Ser	missense variant	-	NC_000006.12:g.160085122G>A	ESP,ExAC,TOPMed,gnomAD
rs143509112	p.Gly2066Arg	missense variant	-	NC_000006.12:g.160085122G>C	ESP,ExAC,TOPMed,gnomAD
rs1404006947	p.Ile2068Met	missense variant	-	NC_000006.12:g.160085130A>G	gnomAD
rs374103856	p.Ile2068Val	missense variant	-	NC_000006.12:g.160085128A>G	-
rs374103856	p.Ile2068Val	missense variant	-	NC_000006.12:g.160085128A>G	NCI-TCGA
rs201217610	p.Lys2071Arg	missense variant	-	NC_000006.12:g.160088039A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755484397	p.Val2072Ile	missense variant	-	NC_000006.12:g.160088041G>A	ExAC,gnomAD
rs1336089266	p.Val2073Ala	missense variant	-	NC_000006.12:g.160088045T>C	gnomAD
rs748519021	p.Thr2075Met	missense variant	-	NC_000006.12:g.160088051C>T	ExAC,TOPMed,gnomAD
rs1289059093	p.Ser2077Cys	missense variant	-	NC_000006.12:g.160088057C>G	TOPMed,gnomAD
rs1289059093	p.Ser2077Phe	missense variant	-	NC_000006.12:g.160088057C>T	TOPMed,gnomAD
rs780877053	p.Lys2078Glu	missense variant	-	NC_000006.12:g.160088059A>G	ExAC,gnomAD
rs1284213279	p.Tyr2080Cys	missense variant	-	NC_000006.12:g.160088066A>G	NCI-TCGA
rs1284213279	p.Tyr2080Cys	missense variant	-	NC_000006.12:g.160088066A>G	TOPMed,gnomAD
rs151080511	p.Pro2081Gln	missense variant	-	NC_000006.12:g.160088069C>A	ESP,ExAC,TOPMed,gnomAD
rs151080511	p.Pro2081Leu	missense variant	-	NC_000006.12:g.160088069C>T	ESP,ExAC,TOPMed,gnomAD
rs769380452	p.Cys2082Phe	missense variant	-	NC_000006.12:g.160088072G>T	ExAC,gnomAD
rs774919148	p.Asn2085Ile	missense variant	-	NC_000006.12:g.160088081A>T	ExAC,gnomAD
rs768572719	p.Ala2088Gly	missense variant	-	NC_000006.12:g.160088090C>G	ExAC,gnomAD
rs1239143442	p.Ala2088Thr	missense variant	-	NC_000006.12:g.160088089G>A	gnomAD
rs1176383873	p.Ser2089Phe	missense variant	-	NC_000006.12:g.160088093C>T	gnomAD
rs1265037574	p.Ser2090Ala	missense variant	-	NC_000006.12:g.160088095T>G	gnomAD
rs774167573	p.Ser2090Phe	missense variant	-	NC_000006.12:g.160088096C>T	ExAC,gnomAD
rs767164940	p.Val2091Met	missense variant	-	NC_000006.12:g.160088098G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile2092Thr	missense variant	-	NC_000006.12:g.160088102T>C	NCI-TCGA
rs750688479	p.Glu2093Gln	missense variant	-	NC_000006.12:g.160088104G>C	ExAC,gnomAD
rs916026850	p.Thr2095Ala	missense variant	-	NC_000006.12:g.160088110A>G	TOPMed
rs370183140	p.Thr2097Ala	missense variant	-	NC_000006.12:g.160088116A>G	ESP,ExAC,TOPMed,gnomAD
rs370183140	p.Thr2097Ser	missense variant	-	NC_000006.12:g.160088116A>T	ESP,ExAC,TOPMed,gnomAD
rs940233231	p.Lys2098Asn	missense variant	-	NC_000006.12:g.160088121G>T	gnomAD
rs755610532	p.Thr2099Met	missense variant	-	NC_000006.12:g.160088123C>T	ExAC,TOPMed,gnomAD
rs758814989	p.Val2100Met	missense variant	-	NC_000006.12:g.160088125G>A	ExAC,gnomAD
rs777962020	p.Pro2103Ala	missense variant	-	NC_000006.12:g.160088134C>G	ExAC,gnomAD
COSM483642	p.Lys2106Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160088145G>T	NCI-TCGA Cosmic
rs755799799	p.Arg2107Ser	missense variant	-	NC_000006.12:g.160089107G>C	ExAC,TOPMed,gnomAD
rs779654748	p.Asp2109Val	missense variant	-	NC_000006.12:g.160089112A>T	ExAC,TOPMed,gnomAD
rs779654748	p.Asp2109Gly	missense variant	-	NC_000006.12:g.160089112A>G	ExAC,TOPMed,gnomAD
rs141062691	p.Ile2110Thr	missense variant	-	NC_000006.12:g.160089115T>C	ESP,ExAC,TOPMed,gnomAD
rs1444164069	p.Ile2110Val	missense variant	-	NC_000006.12:g.160089114A>G	TOPMed
rs141062691	p.Ile2110Asn	missense variant	-	NC_000006.12:g.160089115T>A	ESP,ExAC,TOPMed,gnomAD
rs150265433	p.Ile2110Met	missense variant	-	NC_000006.12:g.160089116C>G	ESP,ExAC,TOPMed,gnomAD
rs371845257	p.Asp2111Gly	missense variant	-	NC_000006.12:g.160089118A>G	ESP,ExAC,TOPMed,gnomAD
rs771890925	p.Asp2111His	missense variant	-	NC_000006.12:g.160089117G>C	ExAC,gnomAD
rs139399606	p.Tyr2115Ter	stop gained	-	NC_000006.12:g.160089131C>A	ESP,ExAC,TOPMed,gnomAD
rs771328076	p.Tyr2116His	missense variant	-	NC_000006.12:g.160089132T>C	ExAC,gnomAD
rs1264664219	p.Phe2117Leu	missense variant	-	NC_000006.12:g.160089137C>A	gnomAD
NCI-TCGA novel	p.Ser2118Gly	missense variant	-	NC_000006.12:g.160089138A>G	NCI-TCGA
rs976555431	p.Ser2118Asn	missense variant	-	NC_000006.12:g.160089139G>A	-
rs376138460	p.Asp2120Ala	missense variant	-	NC_000006.12:g.160089145A>C	ESP,ExAC,TOPMed,gnomAD
rs1487052582	p.Asp2120Asn	missense variant	-	NC_000006.12:g.160089144G>A	gnomAD
rs1240248488	p.Arg2122Trp	missense variant	-	NC_000006.12:g.160089150C>T	TOPMed
COSM71137	p.Ala2124Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160089156G>A	NCI-TCGA Cosmic
rs888327107	p.Ala2126Thr	missense variant	-	NC_000006.12:g.160089162G>A	TOPMed,gnomAD
rs142990243	p.Val2127Met	missense variant	-	NC_000006.12:g.160089165G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro2129Ser	missense variant	-	NC_000006.12:g.160089171C>T	NCI-TCGA
NCI-TCGA novel	p.Gln2130Leu	missense variant	-	NC_000006.12:g.160089175A>T	NCI-TCGA
rs1282991821	p.Gln2130Ter	stop gained	-	NC_000006.12:g.160089174C>T	TOPMed
COSM6105723	p.Gln2133His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160089185G>T	NCI-TCGA Cosmic
rs1380454555	p.Met2134Val	missense variant	-	NC_000006.12:g.160089186A>G	gnomAD
rs1398324422	p.Met2134Ile	missense variant	-	NC_000006.12:g.160089188G>A	gnomAD
rs757639060	p.Val2135Leu	missense variant	-	NC_000006.12:g.160089189G>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly2137Glu	missense variant	-	NC_000006.12:g.160089196G>A	NCI-TCGA
rs1240390774	p.Gly2137Arg	missense variant	-	NC_000006.12:g.160089195G>A	gnomAD
rs1215183203	p.Ile2139Val	missense variant	-	NC_000006.12:g.160089201A>G	gnomAD
rs1256092999	p.Asn2141Ser	missense variant	-	NC_000006.12:g.160089208A>G	gnomAD
COSM3622486	p.Pro2142Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160089210C>T	NCI-TCGA Cosmic
rs1180079371	p.Ile2143Thr	missense variant	-	NC_000006.12:g.160089214T>C	gnomAD
rs747606718	p.Ile2143Met	missense variant	-	NC_000006.12:g.160089215A>G	ExAC,gnomAD
rs778543225	p.Ile2143Val	missense variant	-	NC_000006.12:g.160089213A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn2144His	missense variant	-	NC_000006.12:g.160089216A>C	NCI-TCGA
rs1179489832	p.Lys2146Gln	missense variant	-	NC_000006.12:g.160089222A>C	gnomAD
rs1179489832	p.Lys2146Glu	missense variant	-	NC_000006.12:g.160089222A>G	gnomAD
rs1451373529	p.Ser2147Ile	missense variant	-	NC_000006.12:g.160089226G>T	TOPMed
rs746917220	p.Gly2151Arg	missense variant	-	NC_000006.12:g.160089237G>A	ExAC,gnomAD
rs1158412972	p.Asp2152His	missense variant	-	NC_000006.12:g.160089240G>C	gnomAD
COSM1075621	p.Asp2152Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160089240G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr2154Asn	missense variant	-	NC_000006.12:g.160089246T>A	NCI-TCGA
COSM1487428	p.Tyr2154PhePheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.160089244_160089245TT>-	NCI-TCGA Cosmic
rs1218597239	p.Leu2157Val	missense variant	-	NC_000006.12:g.160089917C>G	TOPMed
rs777298686	p.Ala2160Val	missense variant	-	NC_000006.12:g.160089927C>T	ExAC,gnomAD
rs1398597631	p.Ser2161Pro	missense variant	-	NC_000006.12:g.160089929T>C	gnomAD
NCI-TCGA novel	p.Asp2163ThrPheSerTerUnk	frameshift	-	NC_000006.12:g.160089932G>-	NCI-TCGA
rs1440989082	p.Met2164Leu	missense variant	-	NC_000006.12:g.160089938A>T	TOPMed,gnomAD
rs1440989082	p.Met2164Leu	missense variant	-	NC_000006.12:g.160089938A>C	TOPMed,gnomAD
rs1369093547	p.Asp2169Asn	missense variant	-	NC_000006.12:g.160089953G>A	gnomAD
rs149581981	p.Asp2169Glu	missense variant	-	NC_000006.12:g.160089955C>A	ESP,ExAC,gnomAD
rs1414301567	p.Asn2170His	missense variant	-	NC_000006.12:g.160089956A>C	TOPMed
NCI-TCGA novel	p.Tyr2171His	missense variant	-	NC_000006.12:g.160089959T>C	NCI-TCGA
rs1318447829	p.Glu2174Gln	missense variant	-	NC_000006.12:g.160089968G>C	gnomAD
rs770099023	p.Ile2175Met	missense variant	-	NC_000006.12:g.160089973C>G	ExAC,gnomAD
rs1169660231	p.Ser2178Pro	missense variant	-	NC_000006.12:g.160089980T>C	TOPMed
rs1437062865	p.Ser2179Phe	missense variant	-	NC_000006.12:g.160089984C>T	gnomAD
NCI-TCGA novel	p.Ile2180Val	missense variant	-	NC_000006.12:g.160089986A>G	NCI-TCGA
rs1204075003	p.Arg2184Lys	missense variant	-	NC_000006.12:g.160089999G>A	gnomAD
rs202077260	p.Pro2186Leu	missense variant	-	NC_000006.12:g.160090005C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1425667522	p.Pro2186Ala	missense variant	-	NC_000006.12:g.160090004C>G	TOPMed
rs201372819	p.Ala2187Val	missense variant	-	NC_000006.12:g.160090008C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1173503424	p.Ser2189Phe	missense variant	-	NC_000006.12:g.160090014C>T	gnomAD
NCI-TCGA novel	p.Ala2191PhePheSerTerUnkUnk	frameshift	-	NC_000006.12:g.160090018_160090019insTTTTTAGTAGAGACGGGGTTTCACCATGTTG	NCI-TCGA
NCI-TCGA novel	p.Ala2191Val	missense variant	-	NC_000006.12:g.160090020C>T	NCI-TCGA
rs370070074	p.Asn2192Tyr	missense variant	-	NC_000006.12:g.160090022A>T	ESP,ExAC,TOPMed,gnomAD
rs17847658	p.Asn2192Ile	missense variant	-	NC_000006.12:g.160090023A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs17847658	p.Asn2192Ser	missense variant	-	NC_000006.12:g.160090023A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs17847658	p.Asn2192Thr	missense variant	-	NC_000006.12:g.160090023A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs761005462	p.Ile2193Val	missense variant	-	NC_000006.12:g.160090025A>G	ExAC,TOPMed,gnomAD
rs1433877755	p.Pro2198Ala	missense variant	-	NC_000006.12:g.160090040C>G	gnomAD
rs201255628	p.Asn2199Lys	missense variant	-	NC_000006.12:g.160090045C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs971661080	p.Asn2199Ser	missense variant	-	NC_000006.12:g.160090044A>G	gnomAD
rs746202843	p.Asp2200Asn	missense variant	-	NC_000006.12:g.160090046G>A	gnomAD
rs746202843	p.Asp2200His	missense variant	-	NC_000006.12:g.160090046G>C	gnomAD
rs762601735	p.His2202Leu	missense variant	-	NC_000006.12:g.160090053A>T	ExAC,gnomAD
rs1364771873	p.Phe2203Val	missense variant	-	NC_000006.12:g.160090055T>G	TOPMed,gnomAD
rs1394738978	p.Ser2204Asn	missense variant	-	NC_000006.12:g.160090059G>A	TOPMed
rs981379593	p.Arg2205Trp	missense variant	-	NC_000006.12:g.160090061C>T	TOPMed,gnomAD
rs1228611010	p.Val2207Ile	missense variant	-	NC_000006.12:g.160090067G>A	gnomAD
NCI-TCGA novel	p.Ser2210PhePheSerTerUnkUnkUnk	frameshift	-	NC_000006.12:g.160090076_160090077insTTTGTCCCACCCGAGGTGTTCAAGCAGCCTGG	NCI-TCGA
rs763527698	p.Asp2211Ala	missense variant	-	NC_000006.12:g.160090080A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp2211Tyr	missense variant	-	NC_000006.12:g.160090079G>T	NCI-TCGA
rs751104930	p.Lys2212Arg	missense variant	-	NC_000006.12:g.160090083A>G	ExAC,TOPMed,gnomAD
rs371139566	p.Lys2212Glu	missense variant	-	NC_000006.12:g.160090082A>G	ESP,TOPMed,gnomAD
rs1008983189	p.Leu2217Pro	missense variant	-	NC_000006.12:g.160090098T>C	TOPMed
NCI-TCGA novel	p.Asp2219Val	missense variant	-	NC_000006.12:g.160096439A>T	NCI-TCGA
NCI-TCGA novel	p.Asp2219Tyr	missense variant	-	NC_000006.12:g.160090103G>T	NCI-TCGA
rs767145572	p.Gly2220Ser	missense variant	-	NC_000006.12:g.160096441G>A	ExAC,gnomAD
rs1319125836	p.Asp2221Val	missense variant	-	NC_000006.12:g.160096445A>T	TOPMed
rs760594141	p.Asp2221His	missense variant	-	NC_000006.12:g.160096444G>C	ExAC,TOPMed,gnomAD
rs760594141	p.Asp2221Asn	missense variant	-	NC_000006.12:g.160096444G>A	ExAC,TOPMed,gnomAD
rs753624419	p.Asp2223Ala	missense variant	-	NC_000006.12:g.160096451A>C	ExAC,gnomAD
rs753624419	p.Asp2223Val	missense variant	-	NC_000006.12:g.160096451A>T	ExAC,gnomAD
rs1458789977	p.Val2224Ile	missense variant	-	NC_000006.12:g.160096453G>A	TOPMed,gnomAD
rs1458789977	p.Val2224Phe	missense variant	-	NC_000006.12:g.160096453G>T	TOPMed,gnomAD
rs752921831	p.Val2225Met	missense variant	-	NC_000006.12:g.160096456G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val2225Leu	missense variant	-	NC_000006.12:g.160096456G>C	NCI-TCGA
rs752921831	p.Val2225Leu	missense variant	-	NC_000006.12:g.160096456G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala2227Thr	missense variant	-	NC_000006.12:g.160096462G>A	NCI-TCGA
rs758559711	p.Lys2231Glu	missense variant	-	NC_000006.12:g.160096474A>G	ExAC,gnomAD
NCI-TCGA novel	p.Cys2232Arg	missense variant	-	NC_000006.12:g.160096477T>C	NCI-TCGA
rs778841231	p.Gly2233Arg	missense variant	-	NC_000006.12:g.160096480G>A	gnomAD
rs369495972	p.Gly2233Ala	missense variant	-	NC_000006.12:g.160096481G>C	ESP,ExAC,TOPMed,gnomAD
rs778841231	p.Gly2233Arg	missense variant	-	NC_000006.12:g.160096480G>C	gnomAD
rs781711816	p.Asp2235Gly	missense variant	-	NC_000006.12:g.160096487A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys2236Asn	missense variant	-	NC_000006.12:g.160096491G>T	NCI-TCGA
rs1327167524	p.Lys2236Met	missense variant	-	NC_000006.12:g.160096490A>T	gnomAD
COSM3622487	p.Thr2243Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160096511C>T	NCI-TCGA Cosmic
rs1321974334	p.Phe2245Val	missense variant	-	NC_000006.12:g.160096516T>G	gnomAD
rs772636216	p.Pro2250Thr	missense variant	-	NC_000006.12:g.160096531C>A	ExAC,gnomAD
rs1193704481	p.Leu2251Pro	missense variant	-	NC_000006.12:g.160096535T>C	gnomAD
rs760208828	p.Val2252Leu	missense variant	-	NC_000006.12:g.160096537G>T	ExAC,gnomAD
rs1266187599	p.Gly2255Arg	missense variant	-	NC_000006.12:g.160096546G>A	gnomAD
rs1457433777	p.Glu2258Lys	missense variant	-	NC_000006.12:g.160096555G>A	TOPMed
rs1049904369	p.Ser2260Gly	missense variant	-	NC_000006.12:g.160096561A>G	gnomAD
rs1049904369	p.Ser2260Cys	missense variant	-	NC_000006.12:g.160096561A>T	gnomAD
rs1200823607	p.Glu2262Lys	missense variant	-	NC_000006.12:g.160096567G>A	TOPMed
rs1270143347	p.Asp2265His	missense variant	-	NC_000006.12:g.160096576G>C	gnomAD
rs1395964901	p.Asp2265Gly	missense variant	-	NC_000006.12:g.160096577A>G	gnomAD
rs1304993761	p.Leu2269Val	missense variant	-	NC_000006.12:g.160096588C>G	gnomAD
rs1304993761	p.Leu2269Phe	missense variant	-	NC_000006.12:g.160096588C>T	gnomAD
rs1347780028	p.Thr2274Pro	missense variant	-	NC_000006.12:g.160096603A>C	TOPMed
NCI-TCGA novel	p.Ala2276Asp	missense variant	-	NC_000006.12:g.160096610C>A	NCI-TCGA
rs763230551	p.Ala2276Val	missense variant	-	NC_000006.12:g.160096610C>T	ExAC,TOPMed,gnomAD
COSM6105722	p.Val2277Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160096612G>T	NCI-TCGA Cosmic
rs757384756	p.Val2277Met	missense variant	-	NC_000006.12:g.160096612G>A	ExAC,gnomAD
rs1211307049	p.Gly2281Arg	missense variant	-	NC_000006.12:g.160096624G>A	gnomAD
rs756835745	p.Val2282Ala	missense variant	-	NC_000006.12:g.160102521T>C	ExAC,gnomAD
COSM4930510	p.Phe2284Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160102526T>G	NCI-TCGA Cosmic
rs1313391816	p.Asp2285Gly	missense variant	-	NC_000006.12:g.160102530A>G	gnomAD
rs139109340	p.Ser2286Asn	missense variant	-	NC_000006.12:g.160102533G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769778969	p.Glu2287Lys	missense variant	-	NC_000006.12:g.160102535G>A	ExAC,TOPMed,gnomAD
rs201799984	p.Gly2290Arg	missense variant	-	NC_000006.12:g.160102544G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs865882500	p.Gly2293Arg	missense variant	-	NC_000006.12:g.160102553G>A	TOPMed,gnomAD
rs1201481591	p.Gln2294Ter	stop gained	-	NC_000006.12:g.160102556C>T	gnomAD
rs563278091	p.Met2295Ile	missense variant	-	NC_000006.12:g.160102561G>A	1000Genomes,ExAC,gnomAD
rs901920092	p.Gly2298Arg	missense variant	-	NC_000006.12:g.160102568G>C	TOPMed
rs1417470503	p.Glu2301Ala	missense variant	-	NC_000006.12:g.160102578A>C	gnomAD
rs149190879	p.Glu2301Lys	missense variant	-	NC_000006.12:g.160102577G>A	ESP,ExAC,TOPMed,gnomAD
rs149190879	p.Glu2301Gln	missense variant	-	NC_000006.12:g.160102577G>C	ESP,ExAC,TOPMed,gnomAD
rs370778326	p.Arg2302Leu	missense variant	-	NC_000006.12:g.160102581G>T	ESP,ExAC,TOPMed,gnomAD
rs766500589	p.Arg2302Trp	missense variant	-	NC_000006.12:g.160102580C>T	ExAC,TOPMed,gnomAD
rs766500589	p.Arg2302Gly	missense variant	-	NC_000006.12:g.160102580C>G	ExAC,TOPMed,gnomAD
rs370778326	p.Arg2302Gln	missense variant	-	NC_000006.12:g.160102581G>A	ESP,ExAC,TOPMed,gnomAD
rs1424705394	p.Gln2304Arg	missense variant	-	NC_000006.12:g.160102587A>G	TOPMed
rs1180693246	p.Gly2307Cys	missense variant	-	NC_000006.12:g.160102595G>T	gnomAD
rs73598446	p.Ala2308Thr	missense variant	-	NC_000006.12:g.160102598G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs73598446	p.Ala2308Ser	missense variant	-	NC_000006.12:g.160102598G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147933063	p.Ala2308Val	missense variant	-	NC_000006.12:g.160102599C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val2309Leu	missense variant	-	NC_000006.12:g.160102601G>T	NCI-TCGA
rs1370534057	p.Leu2310Phe	missense variant	-	NC_000006.12:g.160102604C>T	gnomAD
rs1390248945	p.Leu2310Pro	missense variant	-	NC_000006.12:g.160102605T>C	gnomAD
rs147120362	p.Leu2313Val	missense variant	-	NC_000006.12:g.160102613C>G	ESP,ExAC,gnomAD
rs768450906	p.Val2315Leu	missense variant	-	NC_000006.12:g.160102619G>T	ExAC,gnomAD
rs768450906	p.Val2315Met	missense variant	-	NC_000006.12:g.160102619G>A	ExAC,gnomAD
rs774272340	p.Ala2316Val	missense variant	-	NC_000006.12:g.160102623C>T	ExAC,TOPMed,gnomAD
rs1342578073	p.Leu2317Pro	missense variant	-	NC_000006.12:g.160102626T>C	TOPMed
rs1404361029	p.Thr2318Ser	missense variant	-	NC_000006.12:g.160102629C>G	TOPMed
rs1176642127	p.Leu2321Met	missense variant	-	NC_000006.12:g.160102637C>A	gnomAD
rs1268183351	p.Leu2321Pro	missense variant	-	NC_000006.12:g.160102638T>C	gnomAD
rs771844603	p.Leu2322Gln	missense variant	-	NC_000006.12:g.160102641T>A	ExAC,gnomAD
rs773573943	p.Ala2323Thr	missense variant	-	NC_000006.12:g.160102643G>A	ExAC,gnomAD
rs1429013700	p.Leu2324Val	missense variant	-	NC_000006.12:g.160102646C>G	gnomAD
rs760940665	p.Tyr2327His	missense variant	-	NC_000006.12:g.160102655T>C	ExAC,TOPMed,gnomAD
rs766588478	p.Lys2328Arg	missense variant	-	NC_000006.12:g.160102659A>G	ExAC,gnomAD
rs528323242	p.Lys2329Arg	missense variant	-	NC_000006.12:g.160102662A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs760128656	p.Lys2329Asn	missense variant	-	NC_000006.12:g.160102663G>C	ExAC,gnomAD
rs1293566885	p.Glu2330Gln	missense variant	-	NC_000006.12:g.160102664G>C	gnomAD
rs201699000	p.Glu2333Gly	missense variant	-	NC_000006.12:g.160103748A>G	1000Genomes,TOPMed
rs201699000	p.Glu2333Ala	missense variant	-	NC_000006.12:g.160103748A>C	1000Genomes,TOPMed
rs1240700601	p.Glu2333Asp	missense variant	-	NC_000006.12:g.160103749A>T	gnomAD
rs769851797	p.Thr2334Ile	missense variant	-	NC_000006.12:g.160103751C>T	ExAC,gnomAD
rs775863052	p.Ile2336Met	missense variant	-	NC_000006.12:g.160103758A>G	ExAC,gnomAD
rs763473911	p.Ser2337Thr	missense variant	-	NC_000006.12:g.160103760G>C	ExAC,TOPMed,gnomAD
rs1442416280	p.Leu2339Val	missense variant	-	NC_000006.12:g.160103765C>G	TOPMed,gnomAD
rs986116914	p.Thr2341Ile	missense variant	-	NC_000006.12:g.160103772C>T	gnomAD
rs1307759303	p.Cys2342Trp	missense variant	-	NC_000006.12:g.160103776C>G	TOPMed
rs1360650400	p.Cys2342Phe	missense variant	-	NC_000006.12:g.160103775G>T	gnomAD
rs1316210350	p.Arg2345Lys	missense variant	-	NC_000006.12:g.160103784G>A	gnomAD
rs751895106	p.Ser2346Gly	missense variant	-	NC_000006.12:g.160103786A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser2347Cys	missense variant	-	NC_000006.12:g.160103790C>G	NCI-TCGA
rs766005573	p.Asn2348Lys	missense variant	-	NC_000006.12:g.160103794C>G	ExAC,TOPMed,gnomAD
rs17847665	p.Asn2348Ser	missense variant	-	NC_000006.12:g.160103793A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1184483781	p.Val2349Met	missense variant	-	NC_000006.12:g.160103795G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Tyr2351Ter	stop gained	-	NC_000006.12:g.160103803C>A	NCI-TCGA
rs150217795	p.Lys2352Arg	missense variant	-	NC_000006.12:g.160103805A>G	ESP,ExAC,TOPMed,gnomAD
rs973926930	p.Lys2352Glu	missense variant	-	NC_000006.12:g.160103804A>G	TOPMed
rs778447412	p.Tyr2353Phe	missense variant	-	NC_000006.12:g.160103808A>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys2355Asn	missense variant	-	NC_000006.12:g.160103815G>T	NCI-TCGA
NCI-TCGA novel	p.Lys2358Asn	missense variant	-	NC_000006.12:g.160104682G>T	NCI-TCGA
rs1259669938	p.Glu2359Asp	missense variant	-	NC_000006.12:g.160104685A>C	TOPMed
rs774845928	p.Glu2360Lys	missense variant	-	NC_000006.12:g.160104686G>A	ExAC,gnomAD
rs772450171	p.Thr2362Arg	missense variant	-	NC_000006.12:g.160104693C>G	ExAC,gnomAD
rs1188809436	p.Glu2364Lys	missense variant	-	NC_000006.12:g.160104698G>A	TOPMed
rs1285823327	p.Thr2367Ile	missense variant	-	NC_000006.12:g.160104708C>T	gnomAD
rs764938075	p.Met2371Arg	missense variant	-	NC_000006.12:g.160104720T>G	ExAC,gnomAD
rs759152354	p.Met2371Val	missense variant	-	NC_000006.12:g.160104719A>G	ExAC,gnomAD
rs1207198327	p.Ile2374Val	missense variant	-	NC_000006.12:g.160104728A>G	TOPMed
rs369230559	p.Gln2375Ter	stop gained	-	NC_000006.12:g.160104731C>T	ESP,ExAC,TOPMed,gnomAD
rs369230559	p.Gln2375Glu	missense variant	-	NC_000006.12:g.160104731C>G	ESP,ExAC,TOPMed,gnomAD
rs200822886	p.Pro2377Leu	missense variant	-	NC_000006.12:g.160104738C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372915301	p.Pro2379Ala	missense variant	-	NC_000006.12:g.160104743C>G	ExAC,gnomAD
COSM3622488	p.Pro2379Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160104744C>T	NCI-TCGA Cosmic
rs372915301	p.Pro2379Ser	missense variant	-	NC_000006.12:g.160104743C>T	ExAC,gnomAD
rs756353602	p.Arg2380Gln	missense variant	-	NC_000006.12:g.160104747G>A	ExAC,gnomAD
rs200025473	p.Arg2380Trp	missense variant	-	NC_000006.12:g.160104746C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Glu2384Ala	missense variant	-	NC_000006.12:g.160104759A>C	NCI-TCGA
rs1204412415	p.Glu2384Gln	missense variant	-	NC_000006.12:g.160104758G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gln2386Glu	missense variant	-	NC_000006.12:g.160104764C>G	NCI-TCGA
rs368895158	p.Gly2389Ser	missense variant	-	NC_000006.12:g.160104773G>A	ESP,ExAC,gnomAD
rs778916566	p.Gly2389Asp	missense variant	-	NC_000006.12:g.160104774G>A	ExAC,gnomAD
rs748703829	p.Thr2392Asn	missense variant	-	NC_000006.12:g.160104783C>A	ExAC,gnomAD
rs748703829	p.Thr2392Ile	missense variant	-	NC_000006.12:g.160104783C>T	ExAC,gnomAD
rs772602219	p.Thr2393Ile	missense variant	-	NC_000006.12:g.160104786C>T	ExAC,gnomAD
rs973155291	p.Lys2394Arg	missense variant	-	NC_000006.12:g.160104789A>G	TOPMed
rs1047984877	p.Lys2394Gln	missense variant	-	NC_000006.12:g.160104788A>C	TOPMed
rs747385681	p.Ser2395Leu	missense variant	-	NC_000006.12:g.160104792C>T	ExAC,gnomAD
rs771140949	p.Ala2398Val	missense variant	-	NC_000006.12:g.160104801C>T	ExAC,TOPMed,gnomAD
rs775285059	p.Leu2399Phe	missense variant	-	NC_000006.12:g.160104803C>T	ExAC,TOPMed,gnomAD
rs1463722707	p.Ser2400Thr	missense variant	-	NC_000006.12:g.160104807G>C	gnomAD
rs1224005358	p.Ser2401Phe	missense variant	-	NC_000006.12:g.160104810C>T	TOPMed,gnomAD
rs1224005358	p.Ser2401Cys	missense variant	-	NC_000006.12:g.160104810C>G	TOPMed,gnomAD
rs763716333	p.Ser2401Ala	missense variant	-	NC_000006.12:g.160104809T>G	ExAC,gnomAD
rs1460053849	p.Leu2402Pro	missense variant	-	NC_000006.12:g.160104813T>C	TOPMed
rs886400603	p.His2403Arg	missense variant	-	NC_000006.12:g.160104816A>G	TOPMed,gnomAD
rs886400603	p.His2403Leu	missense variant	-	NC_000006.12:g.160104816A>T	TOPMed,gnomAD
rs1477541575	p.Asp2406His	missense variant	-	NC_000006.12:g.160104824G>C	TOPMed
rs1240808824	p.Asp2408Asn	missense variant	-	NC_000006.12:g.160104830G>A	TOPMed
rs750273880	p.Asp2408Val	missense variant	-	NC_000006.12:g.160104831A>T	ExAC
rs760525553	p.Glu2410Lys	missense variant	-	NC_000006.12:g.160104836G>A	ExAC
rs766051393	p.Glu2410Gly	missense variant	-	NC_000006.12:g.160104837A>G	ExAC,TOPMed,gnomAD
rs754083608	p.Glu2410Asp	missense variant	-	NC_000006.12:g.160104838G>C	ExAC,gnomAD
rs779004392	p.Asp2411His	missense variant	-	NC_000006.12:g.160104839G>C	ExAC
rs373123907	p.Glu2412Asp	missense variant	-	NC_000006.12:g.160104844G>T	ESP,ExAC,TOPMed,gnomAD
rs752770507	p.Glu2412Ala	missense variant	-	NC_000006.12:g.160104843A>C	ExAC,gnomAD
rs1165505340	p.Val2413Ile	missense variant	-	NC_000006.12:g.160104845G>A	gnomAD
rs1165505340	p.Val2413Phe	missense variant	-	NC_000006.12:g.160104845G>T	gnomAD
rs1383512403	p.Leu2414Met	missense variant	-	NC_000006.12:g.160104848C>A	gnomAD
rs1475682490	p.Ile2416Val	missense variant	-	NC_000006.12:g.160104854A>G	gnomAD
rs747406601	p.Ile2416Thr	missense variant	-	NC_000006.12:g.160104855T>C	ExAC,gnomAD
COSM1075622	p.Glu2418Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160104861A>G	NCI-TCGA Cosmic
rs1387592414	p.Lys2420Gln	missense variant	-	NC_000006.12:g.160104866A>C	TOPMed,gnomAD
rs1169623955	p.Lys2420Arg	missense variant	-	NC_000006.12:g.160104867A>G	TOPMed,gnomAD
rs781647023	p.Ser2423Trp	missense variant	-	NC_000006.12:g.160104876C>G	ExAC,TOPMed,gnomAD
rs939596714	p.Ser2423Pro	missense variant	-	NC_000006.12:g.160104875T>C	TOPMed
rs781647023	p.Ser2423Leu	missense variant	-	NC_000006.12:g.160104876C>T	ExAC,TOPMed,gnomAD
rs892663695	p.Gly2424Ser	missense variant	-	NC_000006.12:g.160104878G>A	TOPMed,gnomAD
rs774066028	p.Gly2424Asp	missense variant	-	NC_000006.12:g.160104879G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly2426GluPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.160104882G>-	NCI-TCGA
rs771418989	p.Gly2426Arg	missense variant	-	NC_000006.12:g.160104884G>A	ExAC,gnomAD
rs1262347850	p.Gly2426Ala	missense variant	-	NC_000006.12:g.160104885G>C	gnomAD
rs138845003	p.Ala2429Pro	missense variant	-	NC_000006.12:g.160104893G>C	ESP,ExAC,gnomAD
rs371603976	p.Glu2430Asp	missense variant	-	NC_000006.12:g.160104898G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser2431Cys	missense variant	-	NC_000006.12:g.160104899A>T	NCI-TCGA
rs1185716282	p.Ser2431Ile	missense variant	-	NC_000006.12:g.160104900G>T	gnomAD
rs766246795	p.Ser2432Ala	missense variant	-	NC_000006.12:g.160104902T>G	ExAC,TOPMed,gnomAD
rs753599399	p.His2433Tyr	missense variant	-	NC_000006.12:g.160104905C>T	ExAC,gnomAD
rs1159935081	p.His2433Arg	missense variant	-	NC_000006.12:g.160104906A>G	gnomAD
rs759821807	p.Pro2434Thr	missense variant	-	NC_000006.12:g.160104908C>A	ExAC,gnomAD
rs1022745309	p.Val2435Met	missense variant	-	NC_000006.12:g.160104911G>A	TOPMed
rs149379261	p.Asn2437Lys	missense variant	-	NC_000006.12:g.160104919C>A	ESP,ExAC,TOPMed,gnomAD
rs368682379	p.Ala2438Thr	missense variant	-	NC_000006.12:g.160104920G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs758508003	p.Ala2438Val	missense variant	-	NC_000006.12:g.160104921C>T	ExAC,gnomAD
rs773385350	p.Asn2441Ser	missense variant	-	NC_000006.12:g.160104930A>G	ExAC,gnomAD
rs757681085	p.Ala2442Pro	missense variant	-	NC_000006.12:g.160104932G>C	ExAC,gnomAD
rs1391406550	p.Ala2442Asp	missense variant	-	NC_000006.12:g.160104933C>A	TOPMed,gnomAD
COSM1754634	p.Gln2444Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.160104938C>T	NCI-TCGA Cosmic
rs781717139	p.Arg2446Cys	missense variant	-	NC_000006.12:g.160104944C>T	ExAC,gnomAD
rs139929954	p.Arg2446His	missense variant	-	NC_000006.12:g.160104945G>A	ESP,ExAC,TOPMed,gnomAD
rs778717399	p.Asp2449Asn	missense variant	-	NC_000006.12:g.160104953G>A	ExAC,TOPMed,gnomAD
rs747718589	p.Val2451Met	missense variant	-	NC_000006.12:g.160104959G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu2453AlaPheSerTerUnk	frameshift	-	NC_000006.12:g.160104960_160104961insG	NCI-TCGA
rs772576706	p.Val2454Leu	missense variant	-	NC_000006.12:g.160104968G>C	ExAC,gnomAD
rs373114153	p.Glu2457Gly	missense variant	-	NC_000006.12:g.160104978A>G	ESP,ExAC,gnomAD
rs8191955	p.Ala2459Val	missense variant	-	NC_000006.12:g.160104984C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs8191955	p.Ala2459Val	missense variant	-	NC_000006.12:g.160104984C>T	UniProt,dbSNP
VAR_021316	p.Ala2459Val	missense variant	-	NC_000006.12:g.160104984C>T	UniProt
rs8191955	p.Ala2459Glu	missense variant	-	NC_000006.12:g.160104984C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys2463SerPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.160104992G>-	NCI-TCGA
COSM741312	p.Ser2465Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160105002G>C	NCI-TCGA Cosmic
rs1344167992	p.Ser2466Cys	missense variant	-	NC_000006.12:g.160105005C>G	TOPMed
NCI-TCGA novel	p.Ala2467Thr	missense variant	-	NC_000006.12:g.160105007G>A	NCI-TCGA
rs749839779	p.Ala2467GluValPheAsnAsnTerValValSerUnk	stop gained	-	NC_000006.12:g.160105007_160105008insAAGTATTTAATAATTAGGTTGTTTC	ExAC
rs1301169533	p.Ala2467Val	missense variant	-	NC_000006.12:g.160105008C>T	TOPMed
rs148397081	p.Gln2468His	missense variant	-	NC_000006.12:g.160105012G>T	ESP,ExAC,TOPMed,gnomAD
rs1323491156	p.Gln2468Ter	stop gained	-	NC_000006.12:g.160105010C>T	gnomAD
COSM3860137	p.Gln2469Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.160105013C>T	NCI-TCGA Cosmic
rs757845384	p.Gln2469Arg	missense variant	-	NC_000006.12:g.160105014A>G	ExAC,gnomAD
NCI-TCGA novel	p.Val2472Leu	missense variant	-	NC_000006.12:g.160105022G>T	NCI-TCGA
rs768155580	p.Ser2473Asn	missense variant	-	NC_000006.12:g.160105026G>A	ExAC,gnomAD
rs1283925782	p.Ser2473Arg	missense variant	-	NC_000006.12:g.160105027C>G	gnomAD
rs974526074	p.Val2478Ala	missense variant	-	NC_000006.12:g.160105041T>C	gnomAD
COSM3622489	p.Ser2479Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160105044C>T	NCI-TCGA Cosmic
rs756581299	p.Phe2480Leu	missense variant	-	NC_000006.12:g.160105046T>C	ExAC,TOPMed,gnomAD
rs1311790864	p.His2481Arg	missense variant	-	NC_000006.12:g.160105050A>G	gnomAD
rs772440498	p.Asp2482Gly	missense variant	-	NC_000006.12:g.160105053A>G	TOPMed
rs548937731	p.Asp2482Glu	missense variant	-	NC_000006.12:g.160105054C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs370979732	p.Asp2483Asn	missense variant	-	NC_000006.12:g.160105055G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp2485Gly	missense variant	-	NC_000006.12:g.160105062A>G	NCI-TCGA
rs368065139	p.Asp2485Glu	missense variant	-	NC_000006.12:g.160105063C>G	ESP,ExAC,TOPMed,gnomAD
rs375117972	p.Asp2485Asn	missense variant	-	NC_000006.12:g.160105061G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs927638325	p.Glu2486Lys	missense variant	-	NC_000006.12:g.160105064G>A	TOPMed,gnomAD
rs927638325	p.Glu2486Ter	stop gained	-	NC_000006.12:g.160105064G>T	TOPMed,gnomAD
rs1197663935	p.Asp2487Asn	missense variant	-	NC_000006.12:g.160105067G>A	gnomAD
rs775149509	p.Leu2488Phe	missense variant	-	NC_000006.12:g.160105070C>T	ExAC,gnomAD
rs938981506	p.Leu2489Phe	missense variant	-	NC_000006.12:g.160105075A>C	TOPMed,gnomAD
rs1172161747	p.His2490Asp	missense variant	-	NC_000006.12:g.160105076C>G	gnomAD
rs1428470028	p.Ile2491Val	missense variant	-	NC_000006.12:g.160105079A>G	gnomAD
rs1303250513	p.Ile2491Thr	missense variant	-	NC_000006.12:g.160105080T>C	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001418	Adenocarcinoma	group	BEFREE
C0001430	Adenoma	group	BEFREE;LHGDN
C0002395	Alzheimer's Disease	disease	BEFREE;CTD_human;LHGDN
C0002726	Amyloidosis	disease	BEFREE
C0002736	Amyotrophic Lateral Sclerosis	disease	RGD
C0003838	Arterial Occlusive Diseases	group	BEFREE
C0004903	Beckwith-Wiedemann Syndrome	disease	BEFREE
C0006118	Brain Neoplasms	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE;LHGDN
C0009402	Colorectal Carcinoma	disease	BEFREE
C0011265	Presenile dementia	disease	CTD_human
C0011847	Diabetes	disease	BEFREE
C0011849	Diabetes Mellitus	group	BEFREE
C0011854	Diabetes Mellitus, Insulin-Dependent	disease	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0015624	Fanconi Syndrome	disease	LHGDN
C0017920	Glycogen Storage Disease Type I	disease	BEFREE
C0017921	Glycogen storage disease type II	disease	BEFREE
C0018916	Hemangioma	disease	BEFREE
C0019158	Hepatitis	disease	BEFREE
C0019159	Hepatitis A	disease	BEFREE
C0019693	HIV Infections	group	BEFREE
C0020725	Type II Mucolipidosis	disease	BEFREE
C0021294	Infant, Premature	phenotype	BEFREE
C0023452	Childhood Acute Lymphoblastic Leukemia	disease	BEFREE
C0023890	Liver Cirrhosis	disease	BEFREE
C0023893	Liver Cirrhosis, Experimental	disease	CTD_human
C0023903	Liver neoplasms	group	BEFREE
C0024115	Lung diseases	group	CTD_human
C0024121	Lung Neoplasms	group	BEFREE;LHGDN
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0025322	Premature Menopause	phenotype	BEFREE
C0026946	Mycoses	group	BEFREE
C0027051	Myocardial Infarction	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027708	Nephroblastoma	disease	BEFREE
C0029227	Delirium, Dementia, Amnestic, Cognitive Disorders	group	BEFREE
C0029463	Osteosarcoma	disease	BEFREE;LHGDN
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030567	Parkinson Disease	disease	BEFREE;CTD_human
C0032927	Precancerous Conditions	group	BEFREE
C0033578	Prostatic Neoplasms	group	CTD_human;LHGDN
C0035335	Retinoblastoma	disease	BEFREE
C0036220	Kaposi Sarcoma	disease	BEFREE
C0040136	Thyroid Neoplasm	disease	BEFREE
C0042769	Virus Diseases	group	BEFREE
C0085215	Ovarian Failure, Premature	disease	BEFREE
C0149782	Squamous cell carcinoma of lung	disease	BEFREE
C0151650	Renal fibrosis	disease	BEFREE
C0153381	Malignant neoplasm of mouth	disease	BEFREE
C0162635	Angelman Syndrome	disease	BEFREE
C0206019	HIV Encephalopathy	disease	BEFREE
C0206669	Hepatocellular Adenoma	disease	BEFREE
C0206686	Adrenocortical carcinoma	disease	LHGDN
C0206698	Cholangiocarcinoma	disease	BEFREE
C0220641	Lip and Oral Cavity Carcinoma	disease	BEFREE
C0235833	Congenital diaphragmatic hernia	disease	CTD_human
C0235974	Pancreatic carcinoma	disease	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0265325	Turcot syndrome (disorder)	disease	BEFREE
C0265699	Congenital hernia of foramen of Morgagni	disease	CTD_human
C0265700	Congenital hernia of foramen of Bochdalek	disease	CTD_human
C0267812	Micronodular cirrhosis	disease	HPO
C0276496	Familial Alzheimer Disease (FAD)	disease	CTD_human
C0276548	HIV encephalitis	disease	BEFREE
C0278704	Malignant Childhood Neoplasm	group	BEFREE
C0278996	Malignant Head and Neck Neoplasm	disease	BEFREE
C0279000	Liver and Intrahepatic Biliary Tract Carcinoma	disease	BEFREE
C0334139	Microglial nodules	phenotype	BEFREE
C0341703	Adult Fanconi syndrome	disease	BEFREE
C0342751	Generalized glycogen storage disease of infants	disease	BEFREE
C0345904	Malignant neoplasm of liver	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE;CTD_human
C0476089	Endometrial Carcinoma	disease	BEFREE
C0494463	Alzheimer Disease, Late Onset	disease	CTD_human
C0546126	Acute Confusional Senile Dementia	disease	CTD_human
C0585442	Osteosarcoma of bone	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0685938	Malignant neoplasm of gastrointestinal tract	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0750900	Alzheimer's Disease, Focal Onset	disease	CTD_human
C0750901	Alzheimer Disease, Early Onset	disease	CTD_human
C0752347	Lewy Body Disease	disease	CTD_human
C0853879	Invasive carcinoma of breast	disease	BEFREE
C0919267	ovarian neoplasm	disease	BEFREE
C1096202	Lipoprotein (a) measurement	phenotype	GWASCAT
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1445957	Serum total cholesterol measurement	phenotype	GWASCAT
C1458155	Mammary Neoplasms	group	BEFREE;LHGDN
C1512409	Hepatocarcinogenesis	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1833218	DIABETES MELLITUS, INSULIN-DEPENDENT, 8	disease	BEFREE
C1861901	Subacute progressive viral hepatitis	phenotype	HPO
C1862761	Increased hepatocellular carcinoma risk	phenotype	HPO
C1867955	Increased incidence of hepatocellular carcinoma	phenotype	HPO
C1956346	Coronary Artery Disease	disease	GWASCAT
C2239176	Liver carcinoma	disease	BEFREE;CGI;CLINVAR;CTD_human;HPO;LHGDN
C3642345	Luminal A Breast Carcinoma	disease	BEFREE
C3714514	Infection	group	LHGDN
C3714636	Pneumonitis	disease	BEFREE
C4041080	Neurocognitive Disorders	group	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0001965	G-protein alpha-subunit binding	IEA
GO:0001972	retinoic acid binding	IEA
GO:0005010	insulin-like growth factor-activated receptor activity	TAS
GO:0005515	protein binding	IDA
GO:0005515	protein binding	IPI
GO:0005520	insulin-like growth factor binding	IBA
GO:0005537	mannose binding	IEA
GO:0019899	enzyme binding	IEA
GO:0031995	insulin-like growth factor II binding	IEA
GO:0038023	signaling receptor activity	TAS
GO:0042802	identical protein binding	IPI
GO:0051219	phosphoprotein binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001889	liver development	IEA
GO:0006898	receptor-mediated endocytosis	TAS
GO:0007041	lysosomal transport	IEA
GO:0007165	signal transduction	TAS
GO:0007186	G protein-coupled receptor signaling pathway	IEA
GO:0007283	spermatogenesis	IEA
GO:0009791	post-embryonic development	IEA
GO:0031100	animal organ regeneration	IEA
GO:0032526	response to retinoic acid	IEA
GO:0043065	positive regulation of apoptotic process	IEA
GO:0043312	neutrophil degranulation	TAS
GO:0044794	positive regulation by host of viral process	IMP
GO:0048009	insulin-like growth factor receptor signaling pathway	IEA
GO:0061024	membrane organization	TAS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005641	nuclear envelope lumen	IEA
GO:0005765	lysosomal membrane	IEA
GO:0005768	endosome	IDA
GO:0005768	endosome	IBA
GO:0005769	early endosome	IMP
GO:0005770	late endosome	IBA
GO:0005770	late endosome	IDA
GO:0005794	Golgi apparatus	IDA
GO:0005802	trans-Golgi network	IMP
GO:0005802	trans-Golgi network	IBA
GO:0005886	plasma membrane	IBA
GO:0005886	plasma membrane	TAS
GO:0005887	integral component of plasma membrane	TAS
GO:0005925	focal adhesion	HDA
GO:0009986	cell surface	IDA
GO:0016020	membrane	HDA
GO:0030118	clathrin coat	IEA
GO:0030133	transport vesicle	TAS
GO:0030139	endocytic vesicle	IDA
GO:0030140	trans-Golgi network transport vesicle	IDA
GO:0030665	clathrin-coated vesicle membrane	TAS
GO:0030667	secretory granule membrane	TAS
GO:0032588	trans-Golgi network membrane	TAS
GO:0048471	perinuclear region of cytoplasm	IEA
GO:0070062	extracellular exosome	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-168249	Innate Immune System	TAS
R-HSA-168256	Immune System	TAS
R-HSA-199991	Membrane Trafficking	TAS
R-HSA-199992	trans-Golgi Network Vesicle Budding	TAS
R-HSA-432722	Golgi Associated Vesicle Biogenesis	TAS
R-HSA-5653656	Vesicle-mediated transport	TAS
R-HSA-6798695	Neutrophil degranulation	TAS
R-HSA-6811440	Retrograde transport at the Trans-Golgi-Network	TAS
R-HSA-6811442	Intra-Golgi and retrograde Golgi-to-ER traffic	TAS
R-HSA-8856825	Cargo recognition for clathrin-mediated endocytosis	TAS
R-HSA-8856828	Clathrin-mediated endocytosis	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D019813	1,2-Dimethylhydrazine	[NFE2L2 protein affects the susceptibility to 1,2-Dimethylhydrazine] which results in increased expression of IGF2R mRNA	26388957
C049325	1,2-dithiol-3-thione	1,2-dithiol-3-thione results in decreased expression of IGF2R mRNA	19162173
C576882	1-(2-trifluoromethoxyphenyl)-2-nitroethanone	1-(2-trifluoromethoxyphenyl)-2-nitroethanone results in decreased expression of IGF2R mRNA	25596134
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium affects the expression of IGF2R mRNA	12710931
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in increased expression of IGF2R mRNA	25380136
C070055	2,3',4,4',5-pentachlorobiphenyl	2,3',4,4',5-pentachlorobiphenyl results in decreased methylation of IGF2R gene	31388691
C070055	2,3',4,4',5-pentachlorobiphenyl	2,3',4,4',5-pentachlorobiphenyl results in increased expression of IGF2R mRNA	31388691
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in decreased expression of IGF2R mRNA	23196670
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of IGF2R mRNA	25380136
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of IGF2R mRNA	27188386
C029370	4-toluidine	4-toluidine results in increased expression of IGF2R mRNA	27638505
D000082	Acetaminophen	Acetaminophen results in decreased expression of IGF2R mRNA	21420995
D000082	Acetaminophen	Acetaminophen affects the expression of IGF2R mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of IGF2R gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of IGF2R intron	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of IGF2R mRNA	19770486
C029753	aflatoxin B2	aflatoxin B2 results in decreased methylation of IGF2R intron	30157460
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of IGF2R mRNA	16483693
D001151	Arsenic	Arsenic affects the expression of IGF2R mRNA	28793237
D001151	Arsenic	IGF2R mRNA results in increased susceptibility to Arsenic	17976673
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of IGF2R protein	25419056
C015001	arsenite	arsenite affects the expression of IGF2R mRNA	22959463
D001241	Aspirin	Aspirin results in increased expression of IGF2R mRNA	15928584
D001280	Atrazine	Atrazine results in decreased expression of IGF2R mRNA	22378314
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of IGF2R intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of IGF2R mRNA	20064835
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of IGF2R mRNA	19770486
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of IGF2R mRNA	22228805
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in increased expression of IGF2R mRNA	26377693
C044887	beta-methylcholine	beta-methylcholine affects the expression of IGF2R mRNA	21179406
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of IGF2R mRNA	30951980
C006780	bisphenol A	bisphenol A affects the expression of IGF2R mRNA	30903817
C006780	bisphenol A	bisphenol A results in increased expression of IGF2R mRNA	29275510
C006780	bisphenol A	bisphenol A results in decreased methylation of IGF2R gene	22131059; 22699882;
C006780	bisphenol A	Fulvestrant inhibits the reaction [bisphenol A results in decreased methylation of IGF2R gene]	22131059
C006780	bisphenol A	bisphenol A results in decreased expression of IGF2R mRNA	20505776
C006780	bisphenol A	bisphenol A affects the expression of IGF2R mRNA	25181051
C006780	bisphenol A	[bisphenol A co-treated with enzacamene co-treated with octylmethoxycinnamate co-treated with butylparaben] results in decreased expression of IGF2R mRNA	25607892
C006780	bisphenol A	[bisphenol A co-treated with Estradiol] results in decreased expression of IGF2R mRNA	26496021
C000611646	bisphenol F	bisphenol F results in increased expression of IGF2R mRNA	30951980
C005961	bis(tri-n-butyltin)oxide	bis(tri-n-butyltin)oxide results in decreased phosphorylation of IGF2R protein	22174045
C005961	bis(tri-n-butyltin)oxide	bis(tri-n-butyltin)oxide results in increased expression of IGF2R mRNA	17553608
C038091	butylparaben	[bisphenol A co-treated with enzacamene co-treated with octylmethoxycinnamate co-treated with butylparaben] results in decreased expression of IGF2R mRNA	25607892
D002104	Cadmium	Cadmium results in increased expression of IGF2R mRNA	17327699
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of IGF2R mRNA	19010381
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of IGF2R mRNA	17327699
D002220	Carbamazepine	Carbamazepine affects the expression of IGF2R mRNA	25979313
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of IGF2R mRNA	15963342
D016190	Carboplatin	Carboplatin results in decreased expression of IGF2R mRNA	18172885
C004656	chloroacetaldehyde	chloroacetaldehyde affects the expression of IGF2R mRNA	25596134
D004390	Chlorpyrifos	Chlorpyrifos results in decreased expression of IGF2R mRNA	18668222
D000077404	Cidofovir	Cidofovir affects the expression of IGF2R mRNA	25596134
C018021	cobaltous chloride	cobaltous chloride results in increased expression of IGF2R mRNA	19320972
D003300	Copper	[Disulfiram binds to Copper] which results in increased expression of IGF2R mRNA	24690739
D003300	Copper	[NSC 689534 binds to Copper] which results in increased expression of IGF2R mRNA	20971185
D019327	Copper Sulfate	Copper Sulfate results in increased expression of IGF2R mRNA	19549813
D003345	Corticosterone	[IGF2R protein co-treated with IGF1R protein] affects the reaction [IGF2 protein inhibits the reaction [Corticosterone results in decreased expression of SOD2 protein]]	24667322
D016572	Cyclosporine	Cyclosporine results in decreased expression of IGF2R mRNA	25562108
D016572	Cyclosporine	Cyclosporine results in increased expression of IGF2R mRNA	20106945; 25596134;
C028972	dan-shen root extract	dan-shen root extract inhibits the reaction [IGF2 protein mutant form results in increased activity of IGF2R protein]	23419388
C028972	dan-shen root extract	dan-shen root extract inhibits the reaction [IGF2 protein mutant form results in increased expression of IGF2R protein]	23419388
C028972	dan-shen root extract	Fulvestrant inhibits the reaction [dan-shen root extract inhibits the reaction [IGF2 protein mutant form results in increased expression of IGF2R protein]]	23419388
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of IGF2R mRNA]	27941970
D003993	Dibutyl Phthalate	[Dibutyl Phthalate co-treated with Diethylhexyl Phthalate co-treated with vinclozolin co-treated with prochloraz co-treated with procymidone co-treated with Linuron co-treated with epoxiconazole co-treated with Dichlorodiphenyl Dichloroethylene] results in increased expression of IGF2R mRNA	25607892
D003633	Dichlorodiphenyl Dichloroethylene	[Dibutyl Phthalate co-treated with Diethylhexyl Phthalate co-treated with vinclozolin co-treated with prochloraz co-treated with procymidone co-treated with Linuron co-treated with epoxiconazole co-treated with Dichlorodiphenyl Dichloroethylene] results in increased expression of IGF2R mRNA	25607892
C000944	dicrotophos	dicrotophos results in increased expression of IGF2R mRNA	28302478
C036042	dicyclohexyl phthalate	dicyclohexyl phthalate results in increased expression of IGF2R mRNA	26924002
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate affects the expression of IGF2R mRNA	21636974
D004051	Diethylhexyl Phthalate	[Dibutyl Phthalate co-treated with Diethylhexyl Phthalate co-treated with vinclozolin co-treated with prochloraz co-treated with procymidone co-treated with Linuron co-treated with epoxiconazole co-treated with Dichlorodiphenyl Dichloroethylene] results in increased expression of IGF2R mRNA	25607892
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with Gasoline] results in decreased expression of IGF2R protein	8824503
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with Phenobarbital] results in increased expression of IGF2R mRNA	24535843
D004052	Diethylnitrosamine	Diethylnitrosamine results in decreased expression of IGF2R protein	8824503
D004052	Diethylnitrosamine	Ethinyl Estradiol inhibits the reaction [Diethylnitrosamine results in decreased expression of IGF2R protein]	8824503
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with kojic acid co-treated with Diethylnitrosamine] results in decreased expression of IGF2R mRNA	18544905
D004052	Diethylnitrosamine	Diethylnitrosamine deficiency results in increased mutagenesis of IGF2R gene	15057872
D004052	Diethylnitrosamine	Diethylnitrosamine results in decreased expression of IGF2R mRNA	19542621
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased mutagenesis of IGF2R gene	15057872
C025605	diisobutyl phthalate	diisobutyl phthalate results in increased expression of IGF2R mRNA	29458080
C024629	dimethyl phthalate	dimethyl phthalate results in increased expression of IGF2R mRNA	26924002
D004221	Disulfiram	[Disulfiram binds to Copper] which results in increased expression of IGF2R mRNA	24690739
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of IGF2R mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in increased expression of IGF2R mRNA	29803840
D004317	Doxorubicin	Doxorubicin results in decreased expression of IGF2R protein	30517846
D004785	Environmental Pollutants	Environmental Pollutants results in decreased expression of IGF2R mRNA	12655031
C038939	enzacamene	[bisphenol A co-treated with enzacamene co-treated with octylmethoxycinnamate co-treated with butylparaben] results in decreased expression of IGF2R mRNA	25607892
D004791	Enzyme Inhibitors	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of IGF2R protein	23301498
C109476	epoxiconazole	[Dibutyl Phthalate co-treated with Diethylhexyl Phthalate co-treated with vinclozolin co-treated with prochloraz co-treated with procymidone co-treated with Linuron co-treated with epoxiconazole co-treated with Dichlorodiphenyl Dichloroethylene] results in increased expression of IGF2R mRNA	25607892
D004918	Erythromycin Estolate	Erythromycin Estolate results in increased expression of IGF2R mRNA	24412560
D004958	Estradiol	[bisphenol A co-treated with Estradiol] results in decreased expression of IGF2R mRNA	26496021
D000431	Ethanol	Ethanol results in increased expression of IGF2R mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol inhibits the reaction [Diethylnitrosamine results in decreased expression of IGF2R protein]	8824503
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of IGF2R mRNA	17942748
D011345	Fenofibrate	Fenofibrate results in decreased expression of IGF2R mRNA	25596134
D018120	Finasteride	Finasteride results in increased expression of IGF2R mRNA	24136188
D005492	Folic Acid	[Folic Acid co-treated with sodium arsenite] results in increased methylation of IGF2R mRNA	22959928
D005492	Folic Acid	Folic Acid results in increased methylation of IGF2R mRNA	22959928
D000077267	Fulvestrant	Fulvestrant inhibits the reaction [bisphenol A results in decreased methylation of IGF2R gene]	22131059
D000077267	Fulvestrant	Fulvestrant inhibits the reaction [dan-shen root extract inhibits the reaction [IGF2 protein mutant form results in increased expression of IGF2R protein]]	23419388
D005742	Gasoline	[Diethylnitrosamine co-treated with Gasoline] results in decreased expression of IGF2R protein	8824503
D019833	Genistein	Genistein results in increased expression of IGF2R mRNA	22228119
C071834	glycidamide	glycidamide results in increased expression of IGF2R mRNA	17822822
D007052	Ibuprofen	Ibuprofen results in increased expression of IGF2R mRNA	28201806
D007069	Ifosfamide	Ifosfamide results in increased expression of IGF2R mRNA	25596134
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of IGF2R mRNA	25613284
C410337	K 7174	K 7174 results in increased expression of IGF2R mRNA	24086573
C011890	kojic acid	[Diethylnitrosamine co-treated with kojic acid co-treated with Diethylnitrosamine] results in decreased expression of IGF2R mRNA	18544905
C008261	lead acetate	lead acetate results in decreased expression of IGF2R mRNA	29803886
D008044	Linuron	[Dibutyl Phthalate co-treated with Diethylhexyl Phthalate co-treated with vinclozolin co-treated with prochloraz co-treated with procymidone co-treated with Linuron co-treated with epoxiconazole co-treated with Dichlorodiphenyl Dichloroethylene] results in increased expression of IGF2R mRNA	25607892
C025340	manganese chloride	manganese chloride results in decreased expression of IGF2R mRNA	19276553
D008610	Menthol	Menthol results in increased expression of IGF2R mRNA	26760959
D008627	Mercuric Chloride	Mercuric Chloride results in decreased expression of IGF2R mRNA	29803886
D008687	Metformin	[Metformin co-treated with IGF1 protein] results in decreased expression of IGF2R mRNA	21664031
D008687	Metformin	[Metformin co-treated with IGF2 protein] results in decreased expression of IGF2R mRNA	21664031
D008687	Metformin	[Metformin co-treated with INS protein] results in decreased expression of IGF2R mRNA	21664031
D008687	Metformin	Metformin results in increased expression of IGF2R mRNA	25596134
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of IGF2R mRNA	26924002
D039821	Monoterpenes	Monoterpenes results in increased expression of IGF2R	10082788
C523799	MRK 003	IGF2R results in increased susceptibility to MRK 003	19903844
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of IGF2R mRNA	25620056
C007350	nitrofen	nitrofen results in decreased expression of IGF2R mRNA	20620343; 21433279;
C007350	nitrofen	nitrofen results in decreased expression of IGF2R protein	20620343
C007350	nitrofen	Tretinoin inhibits the reaction [nitrofen results in decreased expression of IGF2R mRNA]	21433279
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of IGF2R mRNA	20188158
C572573	N-nitroso-tris-chloroethylurea	N-nitroso-tris-chloroethylurea results in increased mutagenesis of IGF2R gene	29484121
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in increased expression of IGF2R mRNA	20971185
C118580	octylmethoxycinnamate	[bisphenol A co-treated with enzacamene co-treated with octylmethoxycinnamate co-treated with butylparaben] results in decreased expression of IGF2R mRNA	25607892
D010269	Paraquat	Paraquat results in increased expression of IGF2R mRNA	16328009
D010426	Pentosan Sulfuric Polyester	Pentosan Sulfuric Polyester results in decreased expression of IGF2R mRNA	28973697
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of IGF2R mRNA	29803886
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of IGF2R protein	26178269
D010575	Pesticides	Pesticides results in decreased expression of IGF2R mRNA	27406225
D010634	Phenobarbital	[Diethylnitrosamine co-treated with Phenobarbital] results in increased expression of IGF2R mRNA	24535843
D010634	Phenobarbital	NR1I3 protein affects the reaction [Phenobarbital results in increased expression of IGF2R mRNA]	19482888
D010634	Phenobarbital	Phenobarbital results in increased expression of IGF2R mRNA	19482888
D010634	Phenobarbital	Phenobarbital results in increased expression of IGF2R mRNA	12807726
D010634	Phenobarbital	Phenobarbital results in increased expression of IGF2R mRNA	8055622
D010634	Phenobarbital	Phenobarbital results in increased expression of IGF2R protein	8055622
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of IGF2R mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of IGF2R mRNA	26272509
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of IGF2R mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in decreased expression of IGF2R mRNA	18445702
C006253	pirinixic acid	pirinixic acid results in increased expression of IGF2R mRNA	17426115
C006253	pirinixic acid	pirinixic acid results in increased expression of IGF2R mRNA	19162173
C045362	prochloraz	[Dibutyl Phthalate co-treated with Diethylhexyl Phthalate co-treated with vinclozolin co-treated with prochloraz co-treated with procymidone co-treated with Linuron co-treated with epoxiconazole co-treated with Dichlorodiphenyl Dichloroethylene] results in increased expression of IGF2R mRNA	25607892
C035988	procymidone	[Dibutyl Phthalate co-treated with Diethylhexyl Phthalate co-treated with vinclozolin co-treated with prochloraz co-treated with procymidone co-treated with Linuron co-treated with epoxiconazole co-treated with Dichlorodiphenyl Dichloroethylene] results in increased expression of IGF2R mRNA	25607892
C010313	pseudocumene	pseudocumene results in decreased expression of IGF2R protein	17337753
D000077185	Resveratrol	Resveratrol results in increased expression of IGF2R mRNA	12002526
D000077154	Rosiglitazone	Rosiglitazone results in decreased expression of IGF2R protein	20960268
C010327	salinomycin	salinomycin results in decreased expression of IGF2R mRNA	19682730
D012643	Selenium	Selenium results in decreased expression of IGF2R mRNA	19244175
C009277	sodium arsenate	sodium arsenate results in decreased expression of IGF2R mRNA	21795629; 30953684;
C009277	sodium arsenate	sodium arsenate results in increased expression of IGF2R mRNA	21795629
C017947	sodium arsenite	sodium arsenite results in increased expression of IGF2R mRNA	29361514
C017947	sodium arsenite	sodium arsenite affects the expression of IGF2R mRNA	20816728
C017947	sodium arsenite	[Folic Acid co-treated with sodium arsenite] results in increased methylation of IGF2R mRNA	22959928
C017947	sodium arsenite	sodium arsenite results in decreased expression of IGF2R mRNA	19822182
C017947	sodium arsenite	sodium arsenite results in increased expression of IGF2R mRNA	17077188; 17451858;
D017673	Sodium Chloride, Dietary	IGF2R protein alternative form promotes the reaction [Sodium Chloride, Dietary results in increased expression of VIM protein]	30450786
D017673	Sodium Chloride, Dietary	IGF2R protein alternative form results in increased susceptibility to Sodium Chloride, Dietary	30450786
D017673	Sodium Chloride, Dietary	[IGF2R protein alternative form results in increased susceptibility to Sodium Chloride, Dietary] which results in increased expression of BAD protein	30450786
D017673	Sodium Chloride, Dietary	[IGF2R protein alternative form results in increased susceptibility to Sodium Chloride, Dietary] which results in increased expression of CASP3 protein	30450786
D017673	Sodium Chloride, Dietary	[IGF2R protein alternative form results in increased susceptibility to Sodium Chloride, Dietary] which results in increased expression of CASP3 protein modified form	30450786
D017673	Sodium Chloride, Dietary	[IGF2R protein alternative form results in increased susceptibility to Sodium Chloride, Dietary] which results in increased expression of IGF2R protein	30450786
D017673	Sodium Chloride, Dietary	[IGF2R protein alternative form results in increased susceptibility to Sodium Chloride, Dietary] which results in increased expression of MMP2 protein	30450786
D017673	Sodium Chloride, Dietary	[IGF2R protein alternative form results in increased susceptibility to Sodium Chloride, Dietary] which results in increased expression of MMP9 protein	30450786
D017673	Sodium Chloride, Dietary	[IGF2R protein alternative form results in increased susceptibility to Sodium Chloride, Dietary] which results in increased expression of PLAT protein	30450786
D017673	Sodium Chloride, Dietary	[IGF2R protein alternative form results in increased susceptibility to Sodium Chloride, Dietary] which results in increased expression of PLAU protein	30450786
D017673	Sodium Chloride, Dietary	Sodium Chloride, Dietary promotes the reaction [IGF2R protein alternative form results in increased expression of VIM protein]	30450786
D000077210	Sunitinib	Sunitinib results in increased expression of IGF2R mRNA	31533062
C004648	testosterone enanthate	testosterone enanthate results in increased expression of IGF2R mRNA	23085480
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of IGF2R mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of IGF2R mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of IGF2R mRNA	23142538
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of IGF2R mRNA	19770486; 23142538;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased methylation of IGF2R gene	23142538
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of IGF2R mRNA	22298810
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of IGF2R mRNA	25613284
D013853	Thioacetamide	Thioacetamide results in increased expression of IGF2R mRNA	23411599
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of IGF2R protein	30291989
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of IGF2R mRNA	28065790
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of IGF2R mRNA	20133372
D014118	Toxins, Biological	Toxins, Biological affects the expression of IGF2R mRNA	19682533
D014212	Tretinoin	Tretinoin promotes the reaction [IGF2R binds to and results in increased secretion of IGF2 protein modified form]	16680587
D014212	Tretinoin	Tretinoin inhibits the reaction [nitrofen results in decreased expression of IGF2R mRNA]	21433279
D014212	Tretinoin	Tretinoin results in increased expression of IGF2R protein	21433279
C012589	trichostatin A	trichostatin A affects the expression of IGF2R mRNA	28542535
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of IGF2R mRNA	29803886
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of IGF2R mRNA	26179874
D014414	Tungsten	Tungsten results in decreased expression of IGF2R mRNA	30912803
D014415	Tunicamycin	Tunicamycin results in decreased expression of IGF2R mRNA	17127020
D014415	Tunicamycin	Tunicamycin results in increased expression of IGF2R mRNA	17127020
D014520	Urethane	Urethane results in increased expression of IGF2R mRNA	28818685
D014635	Valproic Acid	Valproic Acid affects the expression of IGF2R mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of IGF2R mRNA	19101580; 23179753; 28001369; 29501571;
D014635	Valproic Acid	Valproic Acid results in increased expression of IGF2R protein	29501571
D014635	Valproic Acid	Valproic Acid affects the expression of IGF2R mRNA	17292431; 17963808;
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of IGF2R gene	25560391
C025643	vinclozolin	[Dibutyl Phthalate co-treated with Diethylhexyl Phthalate co-treated with vinclozolin co-treated with prochloraz co-treated with procymidone co-treated with Linuron co-treated with epoxiconazole co-treated with Dichlorodiphenyl Dichloroethylene] results in increased expression of IGF2R mRNA	25607892
C025643	vinclozolin	vinclozolin results in decreased expression of IGF2R mRNA	23034163
D014800	Vitallium	Vitallium analog results in increased expression of IGF2R mRNA	23825117
D014810	Vitamin E	Vitamin E results in decreased expression of IGF2R mRNA	19244175
D024483	Vitamin K 3	Vitamin K 3 affects the expression of IGF2R mRNA	20044591
D015034	Zinc Oxide	Zinc Oxide affects the expression of IGF2R mRNA	28648595

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0007	Acetylation
KW-0903	Direct protein sequencing
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0458	Lysosome
KW-0472	Membrane
KW-0488	Methylation
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0675	Receptor
KW-1185	Reference proteome
KW-0677	Repeat
KW-0732	Signal
KW-0812	Transmembrane
KW-1133	Transmembrane helix
KW-0813	Transport

Interpro

InterPro ID	InterPro Term
IPR000479	CIMR_rpt
IPR000562	FN_type2_dom
IPR036943	FN_type2_sf
IPR013806	Kringle-like
IPR009011	Man6P_isomerase_rcpt-bd_dom_sf

PROSITE

PROSITE ID	PROSITE Term
PS00023	FN2_1
PS51092	FN2_2
PS51914	MRH

Pfam

Pfam ID	Pfam Term
PF00878	CIMR
PF00040	fn2

Gene: IGF2R

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

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