CleftGeneDB-Search

Gene: COL21A1

Basic information

Tag	Content
Uniprot ID	Q96P44; A6NIX5; B2R8J9; Q49A51; Q71RF4; Q8WXV8; Q9H0V3;
Entrez ID	81578
Genbank protein ID	BAG36196.1; AAH45597.1; AAL50033.1; AAL02227.1; AAI26109.1; AAL86699.1; AAQ15219.1; CAB66559.1;
Genbank nucleotide ID	XM_011514925.2; XM_011514926.1; NM_001318754.1; NM_001318752.1; NM_001318751.1; XM_011514924.2; NM_030820.3; NM_001318753.1; XM_011514927.1;
Ensembl protein ID	ENSP00000244728; ENSP00000359855;
Ensembl nucleotide ID	ENSG00000124749
Gene name	Collagen alpha-1(XXI) chain
Gene symbol	COL21A1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26868259
Functional description
Sequence	MAHYITFLCM VLVLLLQNSV LAEDGEVRSS CRTAPTDLVF ILDGSYSVGP ENFEIVKKWL 60 VNITKNFDIG PKFIQVGVVQ YSDYPVLEIP LGSYDSGEHL TAAVESILYL GGNTKTGKAI 120 QFALDYLFAK SSRFLTKIAV VLTDGKSQDD VKDAAQAARD SKITLFAIGV GSETEDAELR 180 AIANKPSSTY VFYVEDYIAI SKIREVMKQK LCEESVCPTR IPVAARDERG FDILLGLDVN 240 KKVKKRIQLS PKKIKGYEVT SKVDLSELTS NVFPEGLPPS YVFVSTQRFK VKKIWDLWRI 300 LTIDGRPQIA VTLNGVDKIL LFTTTSVING SQVVTFANPQ VKTLFDEGWH QIRLLVTEQD 360 VTLYIDDQQI ENKPLHPVLG ILINGQTQIG KYSGKEETVQ FDVQKLRIYC DPEQNNRETA 420 CEIPGFNGEC LNGPSDVGST PAPCICPPGK PGLQGPKGDP GLPGNPGYPG QPGQDGKPGY 480 QGIAGTPGVP GSPGIQGARG LPGYKGEPGR DGDKGDRGLP GFPGLHGMPG SKGEMGAKGD 540 KGSPGFYGKK GAKGEKGNAG FPGLPGPAGE PGRHGKDGLM GSPGFKGEAG SPGAPGQDGT 600 RGEPGIPGFP GNRGLMGQKG EIGPPGQQGK KGAPGMPGLM GSNGSPGQPG TPGSKGSKGE 660 PGIQGMPGAS GLKGEPGATG SPGEPGYMGL PGIQGKKGDK GNQGEKGIQG QKGENGRQGI 720 PGQQGIQGHH GAKGERGEKG EPGVRGAIGS KGESGVDGLM GPAGPKGQPG DPGPQGPPGL 780 DGKPGREFSE QFIRQVCTDV IRAQLPVLLQ SGRIRNCDHC LSQHGSPGIP GPPGPIGPEG 840 PRGLPGLPGR DGVPGLVGVP GRPGVRGLKG LPGRNGEKGS QGFGYPGEQG PPGPPGPEGP 900 PGISKEGPPG DPGLPGKDGD HGKPGIQGQP GPPGICDPSL CFSVIARRDP FRKGPNY 957

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
COL21A1	rs1925154	GWAS	26868259

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1268589279	p.Ala2Asp	missense variant	-	NC_000006.12:g.56182614G>T	gnomAD
rs61738362	p.His3Gln	missense variant	-	NC_000006.12:g.56182610G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs61738362	p.His3Gln	missense variant	-	NC_000006.12:g.56182610G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1358988410	p.Ile5Thr	missense variant	-	NC_000006.12:g.56182605A>G	TOPMed,gnomAD
rs948082801	p.Ile5Met	missense variant	-	NC_000006.12:g.56182604A>C	TOPMed,gnomAD
rs147394600	p.Thr6Ile	missense variant	-	NC_000006.12:g.56182602G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM5405665	p.Leu8Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56182597G>A	NCI-TCGA Cosmic
COSM4825388	p.Leu8Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56182597G>C	NCI-TCGA Cosmic
rs1037804755	p.Cys9Phe	missense variant	-	NC_000006.12:g.56182593C>A	TOPMed,gnomAD
rs1297693419	p.Met10Lys	missense variant	-	NC_000006.12:g.56182590A>T	gnomAD
rs1221575370	p.Leu12Ter	stop gained	-	NC_000006.12:g.56182584A>T	gnomAD
NCI-TCGA novel	p.Leu16Arg	missense variant	-	NC_000006.12:g.56182572A>C	NCI-TCGA
COSM5030216	p.Leu16Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56182573G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln17Ter	stop gained	-	NC_000006.12:g.56182570G>A	NCI-TCGA
rs1303517343	p.Ser19Phe	missense variant	-	NC_000006.12:g.56182563G>A	gnomAD
COSM3158462	p.Ser19Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56182563G>T	NCI-TCGA Cosmic
rs1303517343	p.Ser19Phe	missense variant	-	NC_000006.12:g.56182563G>A	NCI-TCGA Cosmic
rs771610506	p.Val20Ala	missense variant	-	NC_000006.12:g.56182560A>G	ExAC,gnomAD
rs1462075066	p.Leu21Ile	missense variant	-	NC_000006.12:g.56182558A>T	gnomAD
rs756857792	p.Asp24Gly	missense variant	-	NC_000006.12:g.56182548T>C	ExAC,gnomAD
rs756857792	p.Asp24Val	missense variant	-	NC_000006.12:g.56182548T>A	ExAC,gnomAD
rs1446713627	p.Gly25Ala	missense variant	-	NC_000006.12:g.56182545C>G	TOPMed
rs781642466	p.Glu26Asp	missense variant	-	NC_000006.12:g.56182541T>G	ExAC,TOPMed,gnomAD
rs781642466	p.Glu26Asp	missense variant	-	NC_000006.12:g.56182541T>A	ExAC,TOPMed,gnomAD
rs755565184	p.Val27Ile	missense variant	-	NC_000006.12:g.56182540C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg28Lys	missense variant	-	NC_000006.12:g.56182536C>T	NCI-TCGA
rs373575633	p.Ser29Leu	missense variant	-	NC_000006.12:g.56182533G>A	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser29Ter	stop gained	-	NC_000006.12:g.56182533G>C	NCI-TCGA
rs373575633	p.Ser29Leu	missense variant	-	NC_000006.12:g.56182533G>A	ESP,ExAC,TOPMed,gnomAD
rs766965698	p.Ser29Ala	missense variant	-	NC_000006.12:g.56182534A>C	ExAC,gnomAD
rs908066111	p.Ser30Arg	missense variant	-	NC_000006.12:g.56182531T>G	TOPMed
rs908066111	p.Ser30Gly	missense variant	-	NC_000006.12:g.56182531T>C	TOPMed
rs959481391	p.Arg32Cys	missense variant	-	NC_000006.12:g.56180124G>A	TOPMed
rs1338004950	p.Arg32His	missense variant	-	NC_000006.12:g.56180123C>T	gnomAD
rs769782334	p.Thr33Ile	missense variant	-	NC_000006.12:g.56180120G>A	ExAC,gnomAD
rs1383327752	p.Ala34Ser	missense variant	-	NC_000006.12:g.56180118C>A	gnomAD
COSM6174882	p.Ala34Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56180117G>A	NCI-TCGA Cosmic
rs780767815	p.Pro35Leu	missense variant	-	NC_000006.12:g.56180114G>A	ExAC,TOPMed,gnomAD
COSM3628934	p.Asp37Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56180109C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val39Ala	missense variant	-	NC_000006.12:g.56180102A>G	NCI-TCGA
rs1454568071	p.Phe40Leu	missense variant	-	NC_000006.12:g.56180100A>G	gnomAD
COSM1312322	p.Ile41Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56180095G>C	NCI-TCGA Cosmic
rs750525732	p.Asp43Gly	missense variant	-	NC_000006.12:g.56180090T>C	ExAC,gnomAD
rs757528259	p.Gly44Asp	missense variant	-	NC_000006.12:g.56180087C>T	ExAC,gnomAD
rs1260889640	p.Ser47Arg	missense variant	-	NC_000006.12:g.56180077A>T	gnomAD
rs764276366	p.Ser47Gly	missense variant	-	NC_000006.12:g.56180079T>C	ExAC,gnomAD
NCI-TCGA novel	p.Phe53Ile	missense variant	-	NC_000006.12:g.56180061A>T	NCI-TCGA
rs767495439	p.Phe53Val	missense variant	-	NC_000006.12:g.56180061A>C	ExAC,gnomAD
rs1359610509	p.Val56Met	missense variant	-	NC_000006.12:g.56180052C>T	gnomAD
NCI-TCGA novel	p.Lys57Asn	missense variant	-	NC_000006.12:g.56180047T>A	NCI-TCGA
rs1285431986	p.Lys57Glu	missense variant	-	NC_000006.12:g.56180049T>C	gnomAD
rs773936512	p.Trp59Ter	stop gained	-	NC_000006.12:g.56180042C>T	ExAC,gnomAD
rs1318205530	p.Leu60His	missense variant	-	NC_000006.12:g.56180039A>T	gnomAD
rs199696799	p.Val61Phe	missense variant	-	NC_000006.12:g.56180037C>A	ExAC,gnomAD
NCI-TCGA novel	p.Asn62Thr	missense variant	-	NC_000006.12:g.56180033T>G	NCI-TCGA
rs564829954	p.Asn62Lys	missense variant	-	NC_000006.12:g.56180032A>T	1000Genomes,ExAC,gnomAD
rs769561756	p.Asn62Tyr	missense variant	-	NC_000006.12:g.56180034T>A	ExAC
rs769561756	p.Asn62His	missense variant	-	NC_000006.12:g.56180034T>G	ExAC
rs779440801	p.Thr64Lys	missense variant	-	NC_000006.12:g.56180027G>T	ExAC,gnomAD
rs779440801	p.Thr64Ile	missense variant	-	NC_000006.12:g.56180027G>A	ExAC,gnomAD
rs1165089054	p.Lys65Asn	missense variant	-	NC_000006.12:g.56180023T>G	gnomAD
rs757328990	p.Lys65Glu	missense variant	-	NC_000006.12:g.56180025T>C	ExAC,TOPMed,gnomAD
rs757328990	p.Lys65Ter	stop gained	-	NC_000006.12:g.56180025T>A	ExAC,TOPMed,gnomAD
rs753898954	p.Asn66Thr	missense variant	-	NC_000006.12:g.56180021T>G	ExAC,TOPMed,gnomAD
rs778035421	p.Asn66Lys	missense variant	-	NC_000006.12:g.56180020G>T	ExAC,gnomAD
rs1193778671	p.Asp68Val	missense variant	-	NC_000006.12:g.56180015T>A	gnomAD
rs1223201789	p.Ile69Thr	missense variant	-	NC_000006.12:g.56180012A>G	TOPMed
rs373314290	p.Pro71Leu	missense variant	-	NC_000006.12:g.56180006G>A	ESP,ExAC,TOPMed,gnomAD
COSM1445268	p.Lys72Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56180004T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln75Glu	missense variant	-	NC_000006.12:g.56179995G>C	NCI-TCGA
rs1490415201	p.Val76Ala	missense variant	-	NC_000006.12:g.56179991A>G	gnomAD
rs767169171	p.Gly77Val	missense variant	-	NC_000006.12:g.56179988C>A	ExAC,gnomAD
rs759550937	p.Val78Met	missense variant	-	NC_000006.12:g.56179986C>T	ExAC,gnomAD
NCI-TCGA novel	p.Val79CysPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.56179964_56179983GGGTAGTCACTATATTGAAC>-	NCI-TCGA
COSM3922025	p.Gln80Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.56179980G>A	NCI-TCGA Cosmic
rs946098773	p.Tyr81Cys	missense variant	-	NC_000006.12:g.56179976T>C	TOPMed
rs1270179415	p.Tyr81His	missense variant	-	NC_000006.12:g.56179977A>G	gnomAD
rs751494999	p.Ser82Arg	missense variant	-	NC_000006.12:g.56179972A>C	ExAC,TOPMed,gnomAD
rs1486483346	p.Ser82Cys	missense variant	-	NC_000006.12:g.56179974T>A	TOPMed
rs1301668074	p.Pro85Arg	missense variant	-	NC_000006.12:g.56179964G>C	gnomAD
rs368935187	p.Val86Leu	missense variant	-	NC_000006.12:g.56179962C>A	ESP,ExAC,TOPMed,gnomAD
rs1325718694	p.Ile89Met	missense variant	-	NC_000006.12:g.56179951A>C	gnomAD
NCI-TCGA novel	p.Pro90His	missense variant	-	NC_000006.12:g.56179949G>T	NCI-TCGA
COSM3628928	p.Pro90Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179949G>A	NCI-TCGA Cosmic
COSM3628931	p.Pro90Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179950G>A	NCI-TCGA Cosmic
rs772848970	p.Gly92Arg	missense variant	-	NC_000006.12:g.56179944C>T	ExAC,TOPMed,gnomAD
rs772848970	p.Gly92Arg	missense variant	-	NC_000006.12:g.56179944C>G	ExAC,TOPMed,gnomAD
rs772848970	p.Gly92Arg	missense variant	-	NC_000006.12:g.56179944C>T	NCI-TCGA
COSM3628925	p.Gly92Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179943C>T	NCI-TCGA Cosmic
rs1171376495	p.Ser93Asn	missense variant	-	NC_000006.12:g.56179940C>T	gnomAD
rs1171376495	p.Ser93Ile	missense variant	-	NC_000006.12:g.56179940C>A	gnomAD
rs373996991	p.Tyr94Asp	missense variant	-	NC_000006.12:g.56179938A>C	ExAC,TOPMed,gnomAD
rs373996991	p.Tyr94His	missense variant	-	NC_000006.12:g.56179938A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp95Tyr	missense variant	-	NC_000006.12:g.56179935C>A	NCI-TCGA
COSM3922022	p.Ser96Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179931G>A	NCI-TCGA Cosmic
rs772359277	p.His99Tyr	missense variant	-	NC_000006.12:g.56179923G>A	ExAC,TOPMed,gnomAD
rs746219972	p.Leu100Phe	missense variant	-	NC_000006.12:g.56179918C>G	ExAC,gnomAD
NCI-TCGA novel	p.Thr101ArgPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.56179918C>-	NCI-TCGA
rs538369254	p.Thr101Met	missense variant	-	NC_000006.12:g.56179916G>A	1000Genomes,ExAC,gnomAD
rs538369254	p.Thr101Met	missense variant	-	NC_000006.12:g.56179916G>A	NCI-TCGA
rs771422670	p.Ala102Val	missense variant	-	NC_000006.12:g.56179913G>A	ExAC,gnomAD
rs777772961	p.Glu105Lys	missense variant	-	NC_000006.12:g.56179905C>T	ExAC,TOPMed,gnomAD
rs756352021	p.Ser106Thr	missense variant	-	NC_000006.12:g.56179902A>T	ExAC,gnomAD
rs542671242	p.Ser106Tyr	missense variant	-	NC_000006.12:g.56179901G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs542671242	p.Ser106Phe	missense variant	-	NC_000006.12:g.56179901G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs754781805	p.Ile107Met	missense variant	-	NC_000006.12:g.56179897T>C	ExAC,gnomAD
rs1368717968	p.Ile107Leu	missense variant	-	NC_000006.12:g.56179899T>G	TOPMed,gnomAD
rs1368717968	p.Ile107Val	missense variant	-	NC_000006.12:g.56179899T>C	TOPMed,gnomAD
rs1317583265	p.Tyr109Cys	missense variant	-	NC_000006.12:g.56179892T>C	TOPMed
NCI-TCGA novel	p.Gly111Arg	missense variant	-	NC_000006.12:g.56179887C>T	NCI-TCGA
COSM226163	p.Gly111Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179886C>T	NCI-TCGA Cosmic
COSM3628920	p.Gly112Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179883C>T	NCI-TCGA Cosmic
COSM4860614	p.Gly112Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179884C>T	NCI-TCGA Cosmic
rs766298636	p.Thr114Lys	missense variant	-	NC_000006.12:g.56179877G>T	ExAC,TOPMed
rs993166095	p.Lys115Met	missense variant	-	NC_000006.12:g.56179874T>A	TOPMed
COSM1445266	p.Lys115Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179873C>A	NCI-TCGA Cosmic
COSM3628917	p.Gly117Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179868C>T	NCI-TCGA Cosmic
rs372920341	p.Ala119Thr	missense variant	-	NC_000006.12:g.56179863C>T	ESP,ExAC,gnomAD
rs1018709010	p.Ala123Val	missense variant	-	NC_000006.12:g.56179850G>A	TOPMed,gnomAD
rs763788494	p.Leu124Pro	missense variant	-	NC_000006.12:g.56179847A>G	ExAC,gnomAD
rs1009121320	p.Asp125Asn	missense variant	-	NC_000006.12:g.56179845C>T	TOPMed,gnomAD
rs1009121320	p.Asp125Tyr	missense variant	-	NC_000006.12:g.56179845C>A	TOPMed,gnomAD
rs1009121320	p.Asp125Asn	missense variant	-	NC_000006.12:g.56179845C>T	NCI-TCGA Cosmic
rs1179980381	p.Tyr126His	missense variant	-	NC_000006.12:g.56179842A>G	gnomAD
rs774711115	p.Leu127Val	missense variant	-	NC_000006.12:g.56179839G>C	ExAC,gnomAD
rs771442755	p.Ser132Thr	missense variant	-	NC_000006.12:g.56179824A>T	ExAC,gnomAD
rs749746863	p.Arg133Ter	stop gained	-	NC_000006.12:g.56179821G>A	ExAC,TOPMed,gnomAD
rs749746863	p.Arg133Ter	stop gained	-	NC_000006.12:g.56179821G>A	NCI-TCGA,NCI-TCGA Cosmic
COSM260217	p.Arg133Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179820C>T	NCI-TCGA Cosmic
rs368558141	p.Thr136Ile	missense variant	-	NC_000006.12:g.56179811G>A	ESP,ExAC,gnomAD
rs769903638	p.Ile138Thr	missense variant	-	NC_000006.12:g.56179805A>G	ExAC,gnomAD
rs1310209410	p.Ile138Met	missense variant	-	NC_000006.12:g.56179804T>C	gnomAD
rs376621092	p.Val140Gly	missense variant	-	NC_000006.12:g.56179799A>C	ESP,ExAC,TOPMed,gnomAD
rs902837529	p.Val141Ile	missense variant	-	NC_000006.12:g.56179797C>T	gnomAD
NCI-TCGA novel	p.Leu142Arg	missense variant	-	NC_000006.12:g.56179793A>C	NCI-TCGA
rs372065490	p.Thr143Met	missense variant	-	NC_000006.12:g.56179790G>A	ESP,ExAC,TOPMed,gnomAD
rs746787409	p.Asp144His	missense variant	-	NC_000006.12:g.56179788C>G	ExAC,gnomAD
COSM3628908	p.Asp144Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179788C>T	NCI-TCGA Cosmic
rs779941629	p.Gly145Ser	missense variant	-	NC_000006.12:g.56179785C>T	ExAC,gnomAD
rs1380565278	p.Gly145Asp	missense variant	-	NC_000006.12:g.56179784C>T	gnomAD
rs765241387	p.Val151Ile	missense variant	-	NC_000006.12:g.56179767C>T	ExAC,TOPMed,gnomAD
rs1261180407	p.Asp153His	missense variant	-	NC_000006.12:g.56179761C>G	TOPMed,gnomAD
rs756774073	p.Asp153Gly	missense variant	-	NC_000006.12:g.56179760T>C	ExAC,gnomAD
rs753381358	p.Ala154Glu	missense variant	-	NC_000006.12:g.56179757G>T	ExAC,gnomAD
rs760316856	p.Ala155Ser	missense variant	-	NC_000006.12:g.56179755C>A	ExAC,gnomAD
COSM3874905	p.Ala155Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179755C>T	NCI-TCGA Cosmic
rs191617495	p.Gln156Leu	missense variant	-	NC_000006.12:g.56179751T>A	1000Genomes,ExAC,gnomAD
rs1316649426	p.Gln156Ter	stop gained	-	NC_000006.12:g.56179752G>A	gnomAD
COSM3628905	p.Ala157Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179748G>A	NCI-TCGA Cosmic
rs186487067	p.Ala158Thr	missense variant	-	NC_000006.12:g.56179746C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg159Lys	missense variant	-	NC_000006.12:g.56179742C>T	NCI-TCGA
rs773759222	p.Arg159Gly	missense variant	-	NC_000006.12:g.56179743T>C	ExAC,gnomAD
rs770275763	p.Asp160Gly	missense variant	-	NC_000006.12:g.56179739T>C	ExAC,gnomAD
rs1314451383	p.Asp160Asn	missense variant	-	NC_000006.12:g.56179740C>T	gnomAD
rs748246418	p.Ser161Asn	missense variant	-	NC_000006.12:g.56179736C>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys162Asn	missense variant	-	NC_000006.12:g.56179732C>A	NCI-TCGA
COSM4860741	p.Lys162Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179732C>G	NCI-TCGA Cosmic
rs1484540176	p.Ile163Leu	missense variant	-	NC_000006.12:g.56179731T>A	TOPMed,gnomAD
rs370731926	p.Thr164Ile	missense variant	-	NC_000006.12:g.56179727G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1261774991	p.Thr164Pro	missense variant	-	NC_000006.12:g.56179728T>G	gnomAD
COSM3874902	p.Phe166Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179722A>G	NCI-TCGA Cosmic
rs367830538	p.Ala167Pro	missense variant	-	NC_000006.12:g.56179719C>G	ESP,ExAC,TOPMed,gnomAD
rs1280471477	p.Ile168Thr	missense variant	-	NC_000006.12:g.56179715A>G	gnomAD
rs780389287	p.Gly169Ala	missense variant	-	NC_000006.12:g.56179712C>G	ExAC,gnomAD
rs780389287	p.Gly169Val	missense variant	-	NC_000006.12:g.56179712C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser172Ter	stop gained	-	NC_000006.12:g.56179703G>C	NCI-TCGA
rs535353556	p.Ser172Pro	missense variant	-	NC_000006.12:g.56179704A>G	1000Genomes,ExAC,gnomAD
rs779058776	p.Glu173Lys	missense variant	-	NC_000006.12:g.56179701C>T	ExAC,TOPMed,gnomAD
COSM3411214	p.Thr174Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179698T>C	NCI-TCGA Cosmic
rs572669773	p.Glu175Asp	missense variant	-	NC_000006.12:g.56179693T>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM3628902	p.Glu175Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179695C>T	NCI-TCGA Cosmic
COSM4946714	p.Asp176Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179692C>T	NCI-TCGA Cosmic
rs755753915	p.Ala177Thr	missense variant	-	NC_000006.12:g.56179689C>T	ExAC,gnomAD
COSM3628899	p.Ala177Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179688G>A	NCI-TCGA Cosmic
rs1444584162	p.Glu178Asp	missense variant	-	NC_000006.12:g.56179684T>G	TOPMed
rs181443791	p.Glu178Gln	missense variant	-	NC_000006.12:g.56179686C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu178AsnPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.56179687G>-	NCI-TCGA
rs181443791	p.Glu178Ter	stop gained	-	NC_000006.12:g.56179686C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs181443791	p.Glu178Lys	missense variant	-	NC_000006.12:g.56179686C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1219144852	p.Arg180Gly	missense variant	-	NC_000006.12:g.56179680T>C	gnomAD
rs750786084	p.Arg180Lys	missense variant	-	NC_000006.12:g.56179679C>T	ExAC,TOPMed,gnomAD
rs765741400	p.Ala181Thr	missense variant	-	NC_000006.12:g.56179677C>T	ExAC,gnomAD
rs1323530981	p.Ile182Val	missense variant	-	NC_000006.12:g.56179674T>C	gnomAD
COSM260215	p.Ala183Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179671C>T	NCI-TCGA Cosmic
rs776601842	p.Asn184Ser	missense variant	-	NC_000006.12:g.56179667T>C	ExAC,gnomAD
rs760646871	p.Lys185Glu	missense variant	-	NC_000006.12:g.56179665T>C	ExAC,gnomAD
rs1279868794	p.Pro186Ser	missense variant	-	NC_000006.12:g.56179662G>A	gnomAD
rs775643069	p.Ser187Leu	missense variant	-	NC_000006.12:g.56179658G>A	ExAC,TOPMed,gnomAD
rs770795657	p.Ser188Cys	missense variant	-	NC_000006.12:g.56179655G>C	ExAC,gnomAD
rs370912776	p.Tyr193His	missense variant	-	NC_000006.12:g.56179641A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala199Thr	missense variant	-	NC_000006.12:g.56179623C>T	NCI-TCGA
COSM4862684	p.Ala199Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179622G>T	NCI-TCGA Cosmic
rs1469217012	p.Ser201Cys	missense variant	-	NC_000006.12:g.56179616G>C	gnomAD
rs780891873	p.Ile203Arg	missense variant	-	NC_000006.12:g.56179610A>C	ExAC,TOPMed,gnomAD
rs780891873	p.Ile203Thr	missense variant	-	NC_000006.12:g.56179610A>G	ExAC,TOPMed,gnomAD
rs377305296	p.Arg204Lys	missense variant	-	NC_000006.12:g.56179607C>T	ESP,ExAC,gnomAD
rs377305296	p.Arg204Thr	missense variant	-	NC_000006.12:g.56179607C>G	ESP,ExAC,gnomAD
rs562696627	p.Glu205Lys	missense variant	-	NC_000006.12:g.56179605C>T	TOPMed
rs758003301	p.Glu205Asp	missense variant	-	NC_000006.12:g.56179603T>G	ExAC,TOPMed,gnomAD
rs1424158922	p.Val206Gly	missense variant	-	NC_000006.12:g.56179601A>C	gnomAD
rs762048646	p.Met207Leu	missense variant	-	NC_000006.12:g.56179599T>A	ExAC,gnomAD
rs1221486826	p.Cys212Gly	missense variant	-	NC_000006.12:g.56179584A>C	gnomAD
rs541217171	p.Glu214Asp	missense variant	-	NC_000006.12:g.56171127T>G	1000Genomes,ExAC,gnomAD
rs1344613768	p.Glu214Gln	missense variant	-	NC_000006.12:g.56179578C>G	gnomAD
COSM3628890	p.Ser215Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56171125G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro218Thr	missense variant	-	NC_000006.12:g.56171117G>T	NCI-TCGA
rs1451095162	p.Thr219Lys	missense variant	-	NC_000006.12:g.56171113G>T	TOPMed,gnomAD
rs1483921760	p.Thr219Ala	missense variant	-	NC_000006.12:g.56171114T>C	TOPMed
rs202026963	p.Arg220Ter	stop gained	-	NC_000006.12:g.56171111G>A	ESP,ExAC,TOPMed,gnomAD
rs267601087	p.Arg220Gln	missense variant	-	NC_000006.12:g.56171110C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ile221Val	missense variant	-	NC_000006.12:g.56171108T>C	NCI-TCGA
rs1467861809	p.Ile221Phe	missense variant	-	NC_000006.12:g.56171108T>A	gnomAD
rs912012710	p.Pro222Leu	missense variant	-	NC_000006.12:g.56171104G>A	TOPMed
rs752844827	p.Val223Ala	missense variant	-	NC_000006.12:g.56171101A>G	ExAC,gnomAD
rs759656954	p.Ala224Val	missense variant	-	NC_000006.12:g.56171098G>A	ExAC,gnomAD
COSM1131828	p.Ala224Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56171099C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala225Pro	missense variant	-	NC_000006.12:g.56171096C>G	NCI-TCGA
rs1240096504	p.Ala225Val	missense variant	-	NC_000006.12:g.56171095G>A	gnomAD
rs368730001	p.Arg226Cys	missense variant	-	NC_000006.12:g.56171093G>A	ESP,TOPMed,gnomAD
rs572301223	p.Arg226His	missense variant	-	NC_000006.12:g.56171092C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs572301223	p.Arg226Leu	missense variant	-	NC_000006.12:g.56171092C>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM6107342	p.Asp227Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56171088A>T	NCI-TCGA Cosmic
rs1201996778	p.Glu228Ter	stop gained	-	NC_000006.12:g.56171087C>A	TOPMed,gnomAD
COSM4896248	p.Glu228Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56171087C>T	NCI-TCGA Cosmic
rs1484744905	p.Glu228Ala	missense variant	-	NC_000006.12:g.56171086T>G	TOPMed,gnomAD
rs200708113	p.Arg229Lys	missense variant	-	NC_000006.12:g.56171083C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1260435721	p.Arg229Gly	missense variant	-	NC_000006.12:g.56171084T>C	TOPMed,gnomAD
rs1355316937	p.Gly230Val	missense variant	-	NC_000006.12:g.56171080C>A	gnomAD
rs267601086	p.Gly230Arg	missense variant	-	NC_000006.12:g.56171081C>T	gnomAD
NCI-TCGA novel	p.Asp232Tyr	missense variant	-	NC_000006.12:g.56171075C>A	NCI-TCGA
COSM3628883	p.Asp232Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56171075C>T	NCI-TCGA Cosmic
rs762875794	p.Ile233Val	missense variant	-	NC_000006.12:g.56171072T>C	ExAC,gnomAD
COSM280048	p.Leu234Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56171069G>T	NCI-TCGA Cosmic
rs772818234	p.Leu234Phe	missense variant	-	NC_000006.12:g.56171069G>A	ExAC,gnomAD
rs769786517	p.Leu235Ser	missense variant	-	NC_000006.12:g.56171065A>G	ExAC,gnomAD
rs199532612	p.Asp238Glu	missense variant	-	NC_000006.12:g.56171055A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs970261591	p.Asp238Gly	missense variant	-	NC_000006.12:g.56171056T>C	TOPMed
rs199532612	p.Asp238Glu	missense variant	-	NC_000006.12:g.56171055A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746504870	p.Val239Ala	missense variant	-	NC_000006.12:g.56171053A>G	ExAC,TOPMed,gnomAD
rs779819458	p.Lys241Glu	missense variant	-	NC_000006.12:g.56171048T>C	ExAC,gnomAD
rs757920108	p.Lys242Asn	missense variant	-	NC_000006.12:g.56171043C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys244Asn	missense variant	-	NC_000006.12:g.56171037C>G	NCI-TCGA
NCI-TCGA novel	p.Lys245LeuPheSerTerUnk	stop gained	-	NC_000006.12:g.56171036_56171037insAGGTTTAGATGTAAATAAAAAG	NCI-TCGA
COSM274610	p.Arg246Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56171032C>A	NCI-TCGA Cosmic
rs749674899	p.Ile247Met	missense variant	-	NC_000006.12:g.56171028T>C	ExAC,gnomAD
rs1382342502	p.Ile247Thr	missense variant	-	NC_000006.12:g.56171029A>G	gnomAD
rs1472486062	p.Gln248Ter	stop gained	-	NC_000006.12:g.56171027G>A	gnomAD
rs777949556	p.Leu249Val	missense variant	-	NC_000006.12:g.56171024G>C	ExAC,gnomAD
rs1426565324	p.Lys252Glu	missense variant	-	NC_000006.12:g.56171015T>C	gnomAD
rs756720309	p.Lys253Arg	missense variant	-	NC_000006.12:g.56171011T>C	ExAC,gnomAD
rs773380190	p.Lys253ArgPheSerTerUnk	frameshift	-	NC_000006.12:g.56171011T>-	NCI-TCGA
rs768116680	p.Ile254Val	missense variant	-	NC_000006.12:g.56171009T>C	ExAC,gnomAD
rs768116680	p.Ile254Leu	missense variant	-	NC_000006.12:g.56171009T>A	ExAC,gnomAD
rs1285342779	p.Gly256Val	missense variant	-	NC_000006.12:g.56171002C>A	gnomAD
COSM3628880	p.Gly256Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56171002C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser261Leu	missense variant	-	NC_000006.12:g.56170987G>A	NCI-TCGA
rs751589344	p.Lys262Glu	missense variant	-	NC_000006.12:g.56170985T>C	ExAC,gnomAD
rs1269185590	p.Lys262Thr	missense variant	-	NC_000006.12:g.56170984T>G	TOPMed,gnomAD
rs766630871	p.Val263Phe	missense variant	-	NC_000006.12:g.56170982C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp264Asn	missense variant	-	NC_000006.12:g.56170979C>T	NCI-TCGA
rs1321775400	p.Asp264Gly	missense variant	-	NC_000006.12:g.56170978T>C	gnomAD
rs763030420	p.Leu265Val	missense variant	-	NC_000006.12:g.56170976A>C	ExAC,gnomAD
rs764980509	p.Glu267Lys	missense variant	-	NC_000006.12:g.56170970C>T	ExAC,TOPMed,gnomAD
rs764980509	p.Glu267Gln	missense variant	-	NC_000006.12:g.56170970C>G	ExAC,TOPMed,gnomAD
rs1004347614	p.Thr269Lys	missense variant	-	NC_000006.12:g.56170963G>T	TOPMed
rs1004347614	p.Thr269Ile	missense variant	-	NC_000006.12:g.56170963G>A	TOPMed
rs185452039	p.Asn271Ser	missense variant	-	NC_000006.12:g.56170863T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1276935929	p.Val272Ile	missense variant	-	NC_000006.12:g.56170861C>T	gnomAD
NCI-TCGA novel	p.Pro274Thr	missense variant	-	NC_000006.12:g.56170855G>T	NCI-TCGA
rs1346012166	p.Pro274Ser	missense variant	-	NC_000006.12:g.56170855G>A	gnomAD
NCI-TCGA novel	p.Glu275Lys	missense variant	-	NC_000006.12:g.56170852C>T	NCI-TCGA
NCI-TCGA novel	p.Glu275Ter	stop gained	-	NC_000006.12:g.56170852C>A	NCI-TCGA
rs750656343	p.Glu275Gly	missense variant	-	NC_000006.12:g.56170851T>C	ExAC,gnomAD
rs371363526	p.Gly276Asp	missense variant	-	NC_000006.12:g.56170848C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371363526	p.Gly276Val	missense variant	-	NC_000006.12:g.56170848C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2764043	p.Leu277Pro	missense variant	-	NC_000006.12:g.56170845A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs553883894	p.Leu277Phe	missense variant	-	NC_000006.12:g.56170846G>A	1000Genomes,ExAC,gnomAD
COSM3628877	p.Pro278Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56170843G>A	NCI-TCGA Cosmic
rs764079345	p.Ser280Leu	missense variant	-	NC_000006.12:g.56170836G>A	ExAC,TOPMed,gnomAD
rs568286835	p.Tyr281Cys	missense variant	-	NC_000006.12:g.56170833T>C	1000Genomes,TOPMed
rs568286835	p.Tyr281Phe	missense variant	-	NC_000006.12:g.56170833T>A	1000Genomes,TOPMed
rs775107663	p.Val282Ile	missense variant	-	NC_000006.12:g.56170831C>T	ExAC,gnomAD
rs775107663	p.Val282Leu	missense variant	-	NC_000006.12:g.56170831C>A	ExAC,gnomAD
rs759037535	p.Phe283Leu	missense variant	-	NC_000006.12:g.56170828A>G	ExAC,gnomAD
rs1380376432	p.Val284Met	missense variant	-	NC_000006.12:g.56170825C>T	gnomAD
rs1053225077	p.Ser285Tyr	missense variant	-	NC_000006.12:g.56170821G>T	TOPMed
rs774159901	p.Thr286Ile	missense variant	-	NC_000006.12:g.56170818G>A	ExAC,gnomAD
COSM4823290	p.Gln287Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56170816G>C	NCI-TCGA Cosmic
rs770639332	p.Arg288Lys	missense variant	-	NC_000006.12:g.56170812C>T	ExAC,TOPMed,gnomAD
rs770639332	p.Arg288Ile	missense variant	-	NC_000006.12:g.56170812C>A	ExAC,TOPMed,gnomAD
rs1209879684	p.Phe289Leu	missense variant	-	NC_000006.12:g.56170810A>G	gnomAD
rs1443326996	p.Lys290Asn	missense variant	-	NC_000006.12:g.56170805T>G	gnomAD
NCI-TCGA novel	p.Val291Ile	missense variant	-	NC_000006.12:g.56170804C>T	NCI-TCGA
rs781677963	p.Lys292Thr	missense variant	-	NC_000006.12:g.56170800T>G	ExAC,gnomAD
rs376790550	p.Lys292Gln	missense variant	-	NC_000006.12:g.56170801T>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM3430767	p.Lys292Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56170799C>A	NCI-TCGA Cosmic
COSM1080500	p.Lys293Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56170797T>G	NCI-TCGA Cosmic
rs531869048	p.Ile294Met	missense variant	-	NC_000006.12:g.56170793A>C	1000Genomes,ExAC,gnomAD
rs1310097574	p.Trp295Leu	missense variant	-	NC_000006.12:g.56170791C>A	gnomAD
rs780566383	p.Asp296Tyr	missense variant	-	NC_000006.12:g.56170789C>A	ExAC,gnomAD
rs925947579	p.Asp296Val	missense variant	-	NC_000006.12:g.56170788T>A	TOPMed,gnomAD
rs780566383	p.Asp296Asn	missense variant	-	NC_000006.12:g.56170789C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu297Ser	missense variant	-	NC_000006.12:g.56170785A>G	NCI-TCGA
rs1406381551	p.Leu297Ter	stop gained	-	NC_000006.12:g.56170785A>C	TOPMed
NCI-TCGA novel	p.Trp298Ter	stop gained	-	NC_000006.12:g.56170781C>T	NCI-TCGA
rs758425730	p.Arg299Ile	missense variant	-	NC_000006.12:g.56170779C>A	ExAC,gnomAD
rs1360653995	p.Leu301Ter	stop gained	-	NC_000006.12:g.56170773A>C	gnomAD
rs779176469	p.Gly305Val	missense variant	-	NC_000006.12:g.56170761C>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln308Glu	missense variant	-	NC_000006.12:g.56170753G>C	NCI-TCGA
rs1421488355	p.Ala310Ser	missense variant	-	NC_000006.12:g.56170747C>A	gnomAD
rs375201875	p.Val311Ile	missense variant	-	NC_000006.12:g.56170744C>T	ESP,ExAC,gnomAD
rs1260032098	p.Gly315Asp	missense variant	-	NC_000006.12:g.56170731C>T	gnomAD
rs752599674	p.Val316Met	missense variant	-	NC_000006.12:g.56170729C>T	ExAC,gnomAD
rs767431867	p.Asp317Glu	missense variant	-	NC_000006.12:g.56170724G>T	ExAC,TOPMed,gnomAD
rs773992893	p.Ile319Val	missense variant	-	NC_000006.12:g.56170720T>C	ExAC
NCI-TCGA novel	p.Thr323Ser	missense variant	-	NC_000006.12:g.56170708T>A	NCI-TCGA
rs1228816148	p.Thr323Ile	missense variant	-	NC_000006.12:g.56170707G>A	gnomAD
rs1381152441	p.Thr324Ala	missense variant	-	NC_000006.12:g.56170705T>C	gnomAD
rs777173150	p.Thr325Ala	missense variant	-	NC_000006.12:g.56170702T>C	ExAC,TOPMed,gnomAD
rs1399098361	p.Thr325Asn	missense variant	-	NC_000006.12:g.56170701G>T	gnomAD
rs1360808395	p.Ser326Gly	missense variant	-	NC_000006.12:g.56170699T>C	gnomAD
rs142653960	p.Val327Ile	missense variant	-	NC_000006.12:g.56170696C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1348788432	p.Ile328Thr	missense variant	-	NC_000006.12:g.56170692A>G	gnomAD
rs775869347	p.Asn329Thr	missense variant	-	NC_000006.12:g.56170689T>G	ExAC,TOPMed,gnomAD
rs775869347	p.Asn329Ser	missense variant	-	NC_000006.12:g.56170689T>C	ExAC,TOPMed,gnomAD
rs772631267	p.Gly330Asp	missense variant	-	NC_000006.12:g.56170686C>T	ExAC,TOPMed,gnomAD
rs778944755	p.Val334Phe	missense variant	-	NC_000006.12:g.56170675C>A	ExAC,gnomAD
rs749544621	p.Thr335Ile	missense variant	-	NC_000006.12:g.56170671G>A	ExAC,TOPMed,gnomAD
rs187410130	p.Asn338Lys	missense variant	-	NC_000006.12:g.56170661G>T	1000Genomes,TOPMed,gnomAD
rs1188475867	p.Asn338Asp	missense variant	-	NC_000006.12:g.56170663T>C	gnomAD
rs1264927779	p.Pro339Arg	missense variant	-	NC_000006.12:g.56170659G>C	gnomAD
rs1222327922	p.Gln340Glu	missense variant	-	NC_000006.12:g.56170657G>C	gnomAD
rs1389062664	p.Thr343Ser	missense variant	-	NC_000006.12:g.56168297T>A	TOPMed
rs35471617	p.Thr343Met	missense variant	-	NC_000006.12:g.56168296G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu347Lys	missense variant	-	NC_000006.12:g.56168285C>T	NCI-TCGA
rs1300273461	p.Gly348Ala	missense variant	-	NC_000006.12:g.56168281C>G	gnomAD
rs777861336	p.Trp349Cys	missense variant	-	NC_000006.12:g.56168277C>A	ExAC,gnomAD
rs1040526013	p.Arg353His	missense variant	-	NC_000006.12:g.56168266C>T	TOPMed,gnomAD
rs1378533564	p.Arg353Cys	missense variant	-	NC_000006.12:g.56168267G>A	TOPMed,gnomAD
rs781016162	p.Leu355Phe	missense variant	-	NC_000006.12:g.56168259T>G	ExAC,gnomAD
rs1316925118	p.Leu355Ser	missense variant	-	NC_000006.12:g.56168260A>G	TOPMed,gnomAD
rs1198538757	p.Val356Ile	missense variant	-	NC_000006.12:g.56168258C>T	gnomAD
rs755003886	p.Thr357Lys	missense variant	-	NC_000006.12:g.56168254G>T	ExAC,gnomAD
rs1211606257	p.Thr357Ala	missense variant	-	NC_000006.12:g.56168255T>C	TOPMed
rs375705630	p.Glu358Lys	missense variant	-	NC_000006.12:g.56168252C>T	ESP
rs375705630	p.Glu358Gln	missense variant	-	NC_000006.12:g.56168252C>G	ESP
rs371980405	p.Asp360Val	missense variant	-	NC_000006.12:g.56168245T>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp360Asn	missense variant	-	NC_000006.12:g.56168246C>T	NCI-TCGA
rs371980405	p.Asp360Gly	missense variant	-	NC_000006.12:g.56168245T>C	ESP,ExAC,TOPMed,gnomAD
COSM1080496	p.Asp360Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56168246C>A	NCI-TCGA Cosmic
rs757991456	p.Val361Leu	missense variant	-	NC_000006.12:g.56168243C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr362Ala	missense variant	-	NC_000006.12:g.56168240T>C	NCI-TCGA
rs749953709	p.Leu363Ser	missense variant	-	NC_000006.12:g.56168236A>G	ExAC,gnomAD
rs1413818732	p.Tyr364His	missense variant	-	NC_000006.12:g.56168234A>G	TOPMed
rs1474368960	p.Ile365Thr	missense variant	-	NC_000006.12:g.56168230A>G	TOPMed
rs768871995	p.Asp367Asn	missense variant	-	NC_000006.12:g.56168225C>T	ExAC,TOPMed,gnomAD
rs753045593	p.Gln368His	missense variant	-	NC_000006.12:g.56168220T>G	ExAC,gnomAD
rs1358781873	p.Gln369Ter	stop gained	-	NC_000006.12:g.56168219G>A	TOPMed,gnomAD
COSM3697916	p.Ile370Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56168214A>C	NCI-TCGA Cosmic
rs1440341043	p.Glu371Ter	stop gained	-	NC_000006.12:g.56168213C>A	gnomAD
rs759846376	p.Asn372Lys	missense variant	-	NC_000006.12:g.56168208G>C	ExAC,gnomAD
rs1423098479	p.Leu375Ser	missense variant	-	NC_000006.12:g.56168200A>G	TOPMed,gnomAD
rs1392410045	p.His376Tyr	missense variant	-	NC_000006.12:g.56168198G>A	TOPMed
rs771361301	p.Pro377Leu	missense variant	-	NC_000006.12:g.56168194G>A	ExAC,gnomAD
rs763087898	p.Ile381Phe	missense variant	-	NC_000006.12:g.56168183T>A	ExAC,gnomAD
rs773327606	p.Ile381Thr	missense variant	-	NC_000006.12:g.56168182A>G	ExAC,gnomAD
rs1216736999	p.Leu382Ser	missense variant	-	NC_000006.12:g.56168179A>G	gnomAD
rs769957203	p.Ile383Met	missense variant	-	NC_000006.12:g.56168175G>C	ExAC,gnomAD
rs1310269163	p.Ile383Phe	missense variant	-	NC_000006.12:g.56168177T>A	TOPMed
NCI-TCGA novel	p.Gly385Trp	missense variant	-	NC_000006.12:g.56168171C>A	NCI-TCGA
rs1263082472	p.Gly385Glu	missense variant	-	NC_000006.12:g.56168170C>T	gnomAD
rs769729072	p.Gln386Lys	missense variant	-	NC_000006.12:g.56168168G>T	gnomAD
rs910799971	p.Gln386Arg	missense variant	-	NC_000006.12:g.56168167T>C	TOPMed
rs1003235239	p.Gln388Arg	missense variant	-	NC_000006.12:g.56168161T>C	TOPMed,gnomAD
rs1292260313	p.Ile389Thr	missense variant	-	NC_000006.12:g.56168158A>G	TOPMed
rs781228728	p.Ile389Val	missense variant	-	NC_000006.12:g.56168159T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly394Ala	missense variant	-	NC_000006.12:g.56168143C>G	NCI-TCGA
rs1297796710	p.Gly394Glu	missense variant	-	NC_000006.12:g.56168143C>T	gnomAD
rs1321867467	p.Gly394Ter	stop gained	-	NC_000006.12:g.56168144C>A	TOPMed
NCI-TCGA novel	p.Lys395Gln	missense variant	-	NC_000006.12:g.56168141T>G	NCI-TCGA
NCI-TCGA novel	p.Glu397Asp	missense variant	-	NC_000006.12:g.56168133T>A	NCI-TCGA
rs768590534	p.Glu397Lys	missense variant	-	NC_000006.12:g.56168135C>T	ExAC,gnomAD
COSM1080494	p.Glu397Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.56168135C>A	NCI-TCGA Cosmic
rs746738665	p.Thr398Ala	missense variant	-	NC_000006.12:g.56168132T>C	ExAC,gnomAD
rs780211265	p.Thr398Ile	missense variant	-	NC_000006.12:g.56168131G>A	ExAC,gnomAD
rs573505176	p.Val399Leu	missense variant	-	NC_000006.12:g.56168129C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs747896794	p.Gln400Glu	missense variant	-	NC_000006.12:g.56168126G>C	ExAC,TOPMed,gnomAD
rs1215461727	p.Phe401Leu	missense variant	-	NC_000006.12:g.56166983A>G	gnomAD
rs756806090	p.Val403Ala	missense variant	-	NC_000006.12:g.56166976A>G	ExAC,gnomAD
rs753221006	p.Gln404Ter	stop gained	-	NC_000006.12:g.56166974G>A	ExAC,gnomAD
rs1371785735	p.Arg407Gln	missense variant	-	NC_000006.12:g.56166964C>T	TOPMed,gnomAD
rs368852095	p.Arg407Ter	stop gained	-	NC_000006.12:g.56166965G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766697124	p.Cys410Arg	missense variant	-	NC_000006.12:g.56166956A>G	ExAC,gnomAD
rs1399386556	p.Pro412Ser	missense variant	-	NC_000006.12:g.56166950G>A	gnomAD
rs116139421	p.Glu413Asp	missense variant	-	NC_000006.12:g.56166945T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1411412126	p.Glu413Lys	missense variant	-	NC_000006.12:g.56166947C>T	gnomAD
rs1373984715	p.Gln414Ter	stop gained	-	NC_000006.12:g.56166944G>A	TOPMed
rs765603104	p.Asn415Ser	missense variant	-	NC_000006.12:g.56166940T>C	ExAC,gnomAD
rs776563371	p.Arg417Gln	missense variant	-	NC_000006.12:g.56166934C>T	ExAC,TOPMed,gnomAD
rs532174153	p.Arg417Trp	missense variant	-	NC_000006.12:g.56166935G>A	ExAC,TOPMed,gnomAD
rs532174153	p.Arg417Trp	missense variant	-	NC_000006.12:g.56166935G>A	NCI-TCGA
NCI-TCGA novel	p.Glu418Asp	missense variant	-	NC_000006.12:g.56166930C>A	NCI-TCGA
rs1456833978	p.Glu418Asp	missense variant	-	NC_000006.12:g.56166930C>G	gnomAD
rs760951134	p.Thr419Ala	missense variant	-	NC_000006.12:g.56166929T>C	ExAC,gnomAD
rs775818530	p.Thr419Ile	missense variant	-	NC_000006.12:g.56166928G>A	ExAC,gnomAD
rs760951134	p.Thr419Ala	missense variant	-	NC_000006.12:g.56166929T>C	NCI-TCGA
COSM1080492	p.Glu422Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56166918C>A	NCI-TCGA Cosmic
rs745594024	p.Ile423Phe	missense variant	-	NC_000006.12:g.56166917T>A	ExAC,gnomAD
rs745594024	p.Ile423Val	missense variant	-	NC_000006.12:g.56166917T>C	ExAC,gnomAD
rs748887167	p.Gly425Val	missense variant	-	NC_000006.12:g.56166910C>A	ExAC,TOPMed,gnomAD
rs748887167	p.Gly425Glu	missense variant	-	NC_000006.12:g.56166910C>T	ExAC,TOPMed,gnomAD
rs1348793304	p.Phe426Leu	missense variant	-	NC_000006.12:g.56166908A>G	gnomAD
rs756268873	p.Asn427Ser	missense variant	-	NC_000006.12:g.56164821T>C	ExAC,gnomAD
COSM3628869	p.Gly428Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56164818C>T	NCI-TCGA Cosmic
rs752820127	p.Glu429Asp	missense variant	-	NC_000006.12:g.56164814C>G	ExAC,gnomAD
rs1205549758	p.Leu431Phe	missense variant	-	NC_000006.12:g.56164503G>A	TOPMed,gnomAD
rs1459923118	p.Leu431Pro	missense variant	-	NC_000006.12:g.56164502A>G	gnomAD
COSM3628866	p.Asp436Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56164488C>T	NCI-TCGA Cosmic
rs752875032	p.Thr440Ile	missense variant	-	NC_000006.12:g.56164475G>A	ExAC,gnomAD
rs9475580	p.Ala442Thr	missense variant	-	NC_000006.12:g.56164470C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200361985	p.Pro443Leu	missense variant	-	NC_000006.12:g.56164466G>A	ESP,ExAC,TOPMed,gnomAD
rs1303522378	p.Cys444Tyr	missense variant	-	NC_000006.12:g.56164463C>T	gnomAD
rs952770018	p.Cys444Ter	stop gained	-	NC_000006.12:g.56164462A>T	TOPMed,gnomAD
rs892771934	p.Ile445Val	missense variant	-	NC_000006.12:g.56164461T>C	TOPMed
rs1235791087	p.Cys446Gly	missense variant	-	NC_000006.12:g.56164458A>C	gnomAD
rs1373867354	p.Pro447Arg	missense variant	-	NC_000006.12:g.56164454G>C	gnomAD
rs529924012	p.Pro448Leu	missense variant	-	NC_000006.12:g.56164451G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs529924012	p.Pro448Leu	missense variant	-	NC_000006.12:g.56164451G>A	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly449Glu	missense variant	-	NC_000006.12:g.56164448C>T	NCI-TCGA
rs1397639910	p.Gly449Arg	missense variant	-	NC_000006.12:g.56164449C>T	gnomAD
rs750212727	p.Leu453Pro	missense variant	-	NC_000006.12:g.56164436A>G	ExAC,gnomAD
rs765213254	p.Gln454His	missense variant	-	NC_000006.12:g.56164432T>A	ExAC,gnomAD
rs761712614	p.Gly455Asp	missense variant	-	NC_000006.12:g.56164430C>T	ExAC,TOPMed,gnomAD
rs761712614	p.Gly455Val	missense variant	-	NC_000006.12:g.56164430C>A	ExAC,TOPMed,gnomAD
rs527933100	p.Pro456Leu	missense variant	-	NC_000006.12:g.56164427G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys457GlnPheSerTerUnk	frameshift	-	NC_000006.12:g.56164425_56164426insG	NCI-TCGA
rs1380927952	p.Lys457Arg	missense variant	-	NC_000006.12:g.56164424T>C	TOPMed
rs1378461099	p.Lys457Ter	stop gained	-	NC_000006.12:g.56164425T>A	gnomAD
rs755025815	p.Gly458Asp	missense variant	-	NC_000006.12:g.56156948C>T	ExAC,gnomAD
rs1194057496	p.Asp459Val	missense variant	-	NC_000006.12:g.56156945T>A	TOPMed
rs780203908	p.Asp459Asn	missense variant	-	NC_000006.12:g.56156946C>T	ExAC,gnomAD
rs750264242	p.Pro460Ala	missense variant	-	NC_000006.12:g.56156943G>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu462Gln	missense variant	-	NC_000006.12:g.56156936A>T	NCI-TCGA
rs765051659	p.Leu462Pro	missense variant	-	NC_000006.12:g.56156936A>G	ExAC,gnomAD
rs1352058531	p.Pro463Leu	missense variant	-	NC_000006.12:g.56156933G>A	gnomAD
rs1479597022	p.Gly464Arg	missense variant	-	NC_000006.12:g.56156931C>T	TOPMed
rs760170755	p.Pro472Thr	missense variant	-	NC_000006.12:g.56156907G>T	ExAC,TOPMed,gnomAD
rs1324851505	p.Gly473Asp	missense variant	-	NC_000006.12:g.56156903C>T	gnomAD
rs369622487	p.Asp475Glu	missense variant	-	NC_000006.12:g.56156896A>C	ESP,ExAC,TOPMed,gnomAD
rs1291692598	p.Gly476Ala	missense variant	-	NC_000006.12:g.56156894C>G	gnomAD
rs535480851	p.Gly476Ser	missense variant	-	NC_000006.12:g.56156895C>T	1000Genomes,ExAC,gnomAD
rs763996951	p.Gly479Val	missense variant	-	NC_000006.12:g.56141982C>A	ExAC,gnomAD
rs1454240686	p.Tyr480Cys	missense variant	-	NC_000006.12:g.56141979T>C	gnomAD
rs756058304	p.Gln481Ter	stop gained	-	NC_000006.12:g.56141977G>A	ExAC,gnomAD
rs752190950	p.Ala484Val	missense variant	-	NC_000006.12:g.56141967G>A	ExAC,gnomAD
rs1272634961	p.Thr486Ile	missense variant	-	NC_000006.12:g.56141961G>A	gnomAD
rs1158653387	p.Thr486Ala	missense variant	-	NC_000006.12:g.56141962T>C	TOPMed
rs1196598738	p.Pro487Ser	missense variant	-	NC_000006.12:g.56141959G>A	gnomAD
rs1341653210	p.Val489Ile	missense variant	-	NC_000006.12:g.56141953C>T	gnomAD
rs187014313	p.Pro490Ser	missense variant	-	NC_000006.12:g.56141950G>A	1000Genomes,ExAC,gnomAD
rs187014313	p.Pro490Thr	missense variant	-	NC_000006.12:g.56141950G>T	1000Genomes,ExAC,gnomAD
rs575546564	p.Ser492Cys	missense variant	-	NC_000006.12:g.56141943G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs575546564	p.Ser492Tyr	missense variant	-	NC_000006.12:g.56141943G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs575546564	p.Ser492Tyr	missense variant	-	NC_000006.12:g.56141943G>T	NCI-TCGA
COSM4467217	p.Pro493Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56141941G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly494Glu	missense variant	-	NC_000006.12:g.56141937C>T	NCI-TCGA
rs35583895	p.Ile495Thr	missense variant	-	NC_000006.12:g.56141934A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs35583895	p.Ile495Thr	missense variant	-	NC_000006.12:g.56141934A>G	UniProt,dbSNP
VAR_038557	p.Ile495Thr	missense variant	-	NC_000006.12:g.56141934A>G	UniProt
rs1371677726	p.Ile495Leu	missense variant	-	NC_000006.12:g.56141935T>A	gnomAD
COSM1080490	p.Ile495Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56141933T>C	NCI-TCGA Cosmic
rs777036899	p.Gln496Lys	missense variant	-	NC_000006.12:g.56141932G>T	ExAC,gnomAD
rs368373933	p.Ala498Val	missense variant	-	NC_000006.12:g.56141834G>A	ESP,ExAC,TOPMed,gnomAD
rs756237287	p.Arg499Ter	stop gained	-	NC_000006.12:g.56141832G>A	ExAC,TOPMed,gnomAD
rs756237287	p.Arg499Gly	missense variant	-	NC_000006.12:g.56141832G>C	ExAC,TOPMed,gnomAD
rs760893406	p.Arg499Gln	missense variant	-	NC_000006.12:g.56141831C>T	ExAC,TOPMed,gnomAD
rs775982915	p.Pro502Ser	missense variant	-	NC_000006.12:g.56141823G>A	ExAC,TOPMed,gnomAD
rs375684938	p.Pro502Arg	missense variant	-	NC_000006.12:g.56141822G>C	ESP,ExAC,TOPMed,gnomAD
rs1181848338	p.Tyr504Phe	missense variant	-	NC_000006.12:g.56141816T>A	TOPMed
rs1187494717	p.Tyr504Asp	missense variant	-	NC_000006.12:g.56141817A>C	gnomAD
rs1187494717	p.Tyr504Asp	missense variant	-	NC_000006.12:g.56141817A>C	NCI-TCGA
rs201267383	p.Lys505Arg	missense variant	-	NC_000006.12:g.56141813T>C	NCI-TCGA,NCI-TCGA Cosmic
rs201267383	p.Lys505Arg	missense variant	-	NC_000006.12:g.56141813T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly506GluPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.56141810C>-	NCI-TCGA
rs774392482	p.Glu507Lys	missense variant	-	NC_000006.12:g.56141808C>T	ExAC,TOPMed
rs1259722031	p.Pro508Ser	missense variant	-	NC_000006.12:g.56141805G>A	TOPMed,gnomAD
rs1259722031	p.Pro508Ser	missense variant	-	NC_000006.12:g.56141805G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg510Gln	missense variant	-	NC_000006.12:g.56141798C>T	NCI-TCGA
rs749557286	p.Arg510Ter	stop gained	-	NC_000006.12:g.56141799G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp511Asn	missense variant	-	NC_000006.12:g.56141796C>T	NCI-TCGA
rs368078832	p.Asp511Glu	missense variant	-	NC_000006.12:g.56141794A>T	ESP,TOPMed,gnomAD
rs777807946	p.Asp511Gly	missense variant	-	NC_000006.12:g.56141795T>C	ExAC,gnomAD
rs1284832054	p.Gly512Asp	missense variant	-	NC_000006.12:g.56141792C>T	gnomAD
rs905441329	p.Asp513Glu	missense variant	-	NC_000006.12:g.56141788G>T	TOPMed
rs373874699	p.Asp513Val	missense variant	-	NC_000006.12:g.56141789T>A	ESP,TOPMed
COSM6107351	p.Asp513Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56141789T>C	NCI-TCGA Cosmic
COSM1312320	p.Asp513His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56141790C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp516Tyr	missense variant	-	NC_000006.12:g.56126146C>A	NCI-TCGA
rs373582305	p.Asp516Glu	missense variant	-	NC_000006.12:g.56126144A>T	ESP,TOPMed,gnomAD
rs143185782	p.Arg517His	missense variant	-	NC_000006.12:g.56126142C>T	1000Genomes,gnomAD
rs371001704	p.Arg517Cys	missense variant	-	NC_000006.12:g.56126143G>A	ESP,ExAC,TOPMed,gnomAD
rs1408883523	p.Gly518Arg	missense variant	-	NC_000006.12:g.56126140C>T	gnomAD
NCI-TCGA novel	p.Pro520Leu	missense variant	-	NC_000006.12:g.56126133G>A	NCI-TCGA
rs1437922949	p.Pro523Ser	missense variant	-	NC_000006.12:g.56126125G>A	TOPMed,gnomAD
rs1392863764	p.Pro523Leu	missense variant	-	NC_000006.12:g.56126124G>A	TOPMed,gnomAD
rs1392863764	p.Pro523Arg	missense variant	-	NC_000006.12:g.56126124G>C	TOPMed,gnomAD
rs376350188	p.Gly524Glu	missense variant	-	NC_000006.12:g.56126121C>T	ESP,TOPMed,gnomAD
rs919395065	p.Leu525Phe	missense variant	-	NC_000006.12:g.56126119G>A	gnomAD
rs1382522827	p.Leu525His	missense variant	-	NC_000006.12:g.56126118A>T	TOPMed
rs919395065	p.Leu525Ile	missense variant	-	NC_000006.12:g.56126119G>T	gnomAD
rs1428065280	p.Gly527Asp	missense variant	-	NC_000006.12:g.56126112C>T	gnomAD
rs1271273845	p.Gly533Cys	missense variant	-	NC_000006.12:g.56125620C>A	gnomAD
COSM6174888	p.Gly533Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56125619C>A	NCI-TCGA Cosmic
rs960565896	p.Glu534Ala	missense variant	-	NC_000006.12:g.56125616T>G	TOPMed
COSM3628860	p.Glu534Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56125617C>T	NCI-TCGA Cosmic
rs1198907071	p.Met535Ile	missense variant	-	NC_000006.12:g.56125612C>A	TOPMed
NCI-TCGA novel	p.Gly536Cys	missense variant	-	NC_000006.12:g.56125611C>A	NCI-TCGA
rs1240347309	p.Gly536Ala	missense variant	-	NC_000006.12:g.56125610C>G	TOPMed
rs1480774774	p.Gly536Ser	missense variant	-	NC_000006.12:g.56125611C>T	gnomAD
rs1033511647	p.Ala537Val	missense variant	-	NC_000006.12:g.56125607G>A	TOPMed,gnomAD
rs1460261910	p.Ala537Thr	missense variant	-	NC_000006.12:g.56125608C>T	TOPMed
rs1346504018	p.Asp540Glu	missense variant	-	NC_000006.12:g.56125597G>T	gnomAD
rs745367875	p.Asp540Asn	missense variant	-	NC_000006.12:g.56125599C>T	ExAC
rs1280324762	p.Gly542Arg	missense variant	-	NC_000006.12:g.56125593C>T	gnomAD
rs1234613846	p.Gly542Glu	missense variant	-	NC_000006.12:g.56125592C>T	gnomAD
rs771765654	p.Ser543Leu	missense variant	-	NC_000006.12:g.56125589G>A	ExAC,TOPMed,gnomAD
rs771765654	p.Ser543Leu	missense variant	-	NC_000006.12:g.56125589G>A	NCI-TCGA,NCI-TCGA Cosmic
COSM3874896	p.Phe546Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56125580A>G	NCI-TCGA Cosmic
rs1418927449	p.Tyr547Cys	missense variant	-	NC_000006.12:g.56125577T>C	TOPMed
COSM1080488	p.Gly548Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56125574C>T	NCI-TCGA Cosmic
rs753101395	p.Lys550Gln	missense variant	-	NC_000006.12:g.56125569T>G	ExAC,gnomAD
rs1333622106	p.Lys550Met	missense variant	-	NC_000006.12:g.56125568T>A	TOPMed
rs761932615	p.Gly551Val	missense variant	-	NC_000006.12:g.56124291C>A	ExAC,TOPMed,gnomAD
rs1323680010	p.Ala552Glu	missense variant	-	NC_000006.12:g.56124288G>T	TOPMed,gnomAD
rs1460699371	p.Gly554Ala	missense variant	-	NC_000006.12:g.56124282C>G	gnomAD
COSM3158359	p.Gly557Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56124273C>T	NCI-TCGA Cosmic
rs1335874239	p.Asn558Thr	missense variant	-	NC_000006.12:g.56124270T>G	TOPMed
rs1394825097	p.Asn558Lys	missense variant	-	NC_000006.12:g.56124269A>C	gnomAD
rs1164620833	p.Gly560Val	missense variant	-	NC_000006.12:g.56124264C>A	gnomAD
rs9382581	p.Gly560Ser	missense variant	-	NC_000006.12:g.56124265C>T	-
rs9382581	p.Gly560Ser	missense variant	-	NC_000006.12:g.56124265C>T	NCI-TCGA
rs1372001204	p.Leu564Phe	missense variant	-	NC_000006.12:g.56124253G>A	gnomAD
rs764409527	p.Pro565Thr	missense variant	-	NC_000006.12:g.56124250G>T	ExAC
rs760607706	p.Pro567Ser	missense variant	-	NC_000006.12:g.56124244G>A	ExAC,gnomAD
rs1256589081	p.Pro567His	missense variant	-	NC_000006.12:g.56124243G>T	TOPMed
rs377190560	p.Ala568Ser	missense variant	-	NC_000006.12:g.56124241C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs377190560	p.Ala568Pro	missense variant	-	NC_000006.12:g.56124241C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1276418403	p.Pro571Arg	missense variant	-	NC_000006.12:g.56124108G>C	TOPMed,gnomAD
rs1345557634	p.Pro571Ser	missense variant	-	NC_000006.12:g.56124109G>A	gnomAD
rs1276418403	p.Pro571Leu	missense variant	-	NC_000006.12:g.56124108G>A	TOPMed,gnomAD
rs1476272204	p.Gly572Ter	stop gained	-	NC_000006.12:g.56124106C>A	TOPMed
NCI-TCGA novel	p.Arg573Ter	stop gained	-	NC_000006.12:g.56124103T>A	NCI-TCGA
NCI-TCGA novel	p.Arg573Ile	missense variant	-	NC_000006.12:g.56124102C>A	NCI-TCGA
rs1439716653	p.Gly575Ter	stop gained	-	NC_000006.12:g.56124097C>A	TOPMed,gnomAD
rs1334856713	p.Gly575Ala	missense variant	-	NC_000006.12:g.56124096C>G	TOPMed,gnomAD
rs1334856713	p.Gly575Glu	missense variant	-	NC_000006.12:g.56124096C>T	TOPMed,gnomAD
rs1308248924	p.Asp577Gly	missense variant	-	NC_000006.12:g.56124090T>C	gnomAD
rs774696575	p.Leu579Ile	missense variant	-	NC_000006.12:g.56124085A>T	TOPMed,gnomAD
rs1168399080	p.Ser582Cys	missense variant	-	NC_000006.12:g.56124076T>A	TOPMed
rs192244210	p.Pro583Arg	missense variant	-	NC_000006.12:g.56124072G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs202115077	p.Pro583Thr	missense variant	-	NC_000006.12:g.56124073G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs202115077	p.Pro583Ser	missense variant	-	NC_000006.12:g.56124073G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1468900956	p.Gly584Ala	missense variant	-	NC_000006.12:g.56124069C>G	gnomAD
rs1174716863	p.Gly584Ser	missense variant	-	NC_000006.12:g.56124070C>T	gnomAD
NCI-TCGA novel	p.Phe585Leu	missense variant	-	NC_000006.12:g.56124065G>T	NCI-TCGA
rs747783927	p.Ala589Ser	missense variant	-	NC_000006.12:g.56101519C>A	ExAC,gnomAD
rs1257607541	p.Gly590Arg	missense variant	-	NC_000006.12:g.56101516C>T	TOPMed
rs75605879	p.Ser591Thr	missense variant	-	NC_000006.12:g.56101513A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772334488	p.Ser591Phe	missense variant	-	NC_000006.12:g.56101512G>A	ExAC,gnomAD
rs75605879	p.Ser591Pro	missense variant	-	NC_000006.12:g.56101513A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746174950	p.Pro592Ser	missense variant	-	NC_000006.12:g.56101510G>A	ExAC,TOPMed,gnomAD
rs746174950	p.Pro592Thr	missense variant	-	NC_000006.12:g.56101510G>T	ExAC,TOPMed,gnomAD
rs766840900	p.Gly593Ser	missense variant	-	NC_000006.12:g.56101507C>T	ExAC,TOPMed,gnomAD
rs1210321150	p.Gly593Asp	missense variant	-	NC_000006.12:g.56101506C>T	TOPMed,gnomAD
rs1477851531	p.Ala594Pro	missense variant	-	NC_000006.12:g.56101504C>G	TOPMed,gnomAD
rs1477851531	p.Ala594Thr	missense variant	-	NC_000006.12:g.56101504C>T	TOPMed,gnomAD
rs757819748	p.Pro595Leu	missense variant	-	NC_000006.12:g.56101500G>A	ExAC,TOPMed,gnomAD
rs1380697382	p.Gln597His	missense variant	-	NC_000006.12:g.56101493C>G	gnomAD
rs1426749864	p.Thr600Ser	missense variant	-	NC_000006.12:g.56101486T>A	gnomAD
rs560128738	p.Arg601Trp	missense variant	-	NC_000006.12:g.56101483G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs752877676	p.Arg601Gln	missense variant	-	NC_000006.12:g.56101482C>T	ExAC,gnomAD
rs560128738	p.Arg601Gly	missense variant	-	NC_000006.12:g.56101483G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs918646990	p.Gly602Val	missense variant	-	NC_000006.12:g.56101479C>A	TOPMed,gnomAD
rs918646990	p.Gly602Ala	missense variant	-	NC_000006.12:g.56101479C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Pro604His	missense variant	-	NC_000006.12:g.56101473G>T	NCI-TCGA
COSM3628850	p.Gly605Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56077573C>T	NCI-TCGA Cosmic
rs374478013	p.Pro607Ser	missense variant	-	NC_000006.12:g.56077567G>A	ESP,ExAC,TOPMed,gnomAD
COSM4404632	p.Gly608Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56077564C>T	NCI-TCGA Cosmic
rs761294480	p.Phe609Val	missense variant	-	NC_000006.12:g.56077561A>C	ExAC,gnomAD
NCI-TCGA novel	p.Pro610Ser	missense variant	-	NC_000006.12:g.56077558G>A	NCI-TCGA
rs1347564670	p.Gly611Arg	missense variant	-	NC_000006.12:g.56077555C>T	TOPMed
rs760439864	p.Arg613Gln	missense variant	-	NC_000006.12:g.56077548C>T	ExAC,gnomAD
rs371319505	p.Arg613Ter	stop gained	-	NC_000006.12:g.56077549G>A	ESP,ExAC,TOPMed,gnomAD
rs775239489	p.Met616Thr	missense variant	-	NC_000006.12:g.56077539A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln618His	missense variant	-	NC_000006.12:g.56077532T>G	NCI-TCGA
rs1482588551	p.Lys619Thr	missense variant	-	NC_000006.12:g.56077530T>G	TOPMed,gnomAD
rs1044691183	p.Gly620Val	missense variant	-	NC_000006.12:g.56075531C>A	TOPMed,gnomAD
rs1044691183	p.Gly620Glu	missense variant	-	NC_000006.12:g.56075531C>T	TOPMed,gnomAD
rs1266646075	p.Ile622Ser	missense variant	-	NC_000006.12:g.56075525A>C	TOPMed,gnomAD
rs199979695	p.Pro624Ser	missense variant	-	NC_000006.12:g.56075520G>A	TOPMed,gnomAD
rs916253872	p.Pro625Ser	missense variant	-	NC_000006.12:g.56075517G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gly626Val	missense variant	-	NC_000006.12:g.56075513C>A	NCI-TCGA
rs1330127876	p.Gln627Lys	missense variant	-	NC_000006.12:g.56075511G>T	gnomAD
rs780191739	p.Gln628Lys	missense variant	-	NC_000006.12:g.56075508G>T	ExAC,gnomAD
rs780191739	p.Gln628Ter	stop gained	-	NC_000006.12:g.56075508G>A	ExAC,gnomAD
rs1313458713	p.Gly629Glu	missense variant	-	NC_000006.12:g.56075504C>T	TOPMed,gnomAD
rs1339952111	p.Gly629Arg	missense variant	-	NC_000006.12:g.56075505C>T	gnomAD
rs1359730247	p.Lys631Ter	stop gained	-	NC_000006.12:g.56075499T>A	gnomAD
COSM243785	p.Gly632GluPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.56075497T>-	NCI-TCGA Cosmic
rs758193066	p.Ala633Asp	missense variant	-	NC_000006.12:g.56075492G>T	ExAC,gnomAD
rs768736130	p.Leu639Ter	stop gained	-	NC_000006.12:g.56074281A>T	ExAC,TOPMed,gnomAD
rs1460005464	p.Met640Ile	missense variant	-	NC_000006.12:g.56074277C>T	gnomAD
rs747023489	p.Met640Arg	missense variant	-	NC_000006.12:g.56074278A>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly641Glu	missense variant	-	NC_000006.12:g.56074275C>T	NCI-TCGA
rs1388921699	p.Ser642Asn	missense variant	-	NC_000006.12:g.56074272C>T	gnomAD
rs780319697	p.Asn643Ser	missense variant	-	NC_000006.12:g.56074269T>C	ExAC,TOPMed,gnomAD
rs1168502996	p.Asn643Asp	missense variant	-	NC_000006.12:g.56074270T>C	gnomAD
NCI-TCGA novel	p.Gly644Val	missense variant	-	NC_000006.12:g.56074266C>A	NCI-TCGA
COSM3874893	p.Gly644Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56074266C>T	NCI-TCGA Cosmic
COSM3922016	p.Ser645Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56074263G>A	NCI-TCGA Cosmic
rs191626317	p.Pro646Thr	missense variant	-	NC_000006.12:g.56074261G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs191626317	p.Pro646Ser	missense variant	-	NC_000006.12:g.56074261G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1197154605	p.Pro646Leu	missense variant	-	NC_000006.12:g.56074260G>A	gnomAD
NCI-TCGA novel	p.Gly647Cys	missense variant	-	NC_000006.12:g.56074258C>A	NCI-TCGA
rs778800969	p.Gly647Asp	missense variant	-	NC_000006.12:g.56074257C>T	ExAC,gnomAD
rs549633498	p.Gly650Ala	missense variant	-	NC_000006.12:g.56074248C>G	1000Genomes,ExAC,gnomAD
COSM3922013	p.Gly650Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56074248C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr651Ile	missense variant	-	NC_000006.12:g.56074245G>A	NCI-TCGA
NCI-TCGA novel	p.Pro652Gln	missense variant	-	NC_000006.12:g.56074242G>T	NCI-TCGA
rs368711091	p.Pro652Leu	missense variant	-	NC_000006.12:g.56074242G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777509414	p.Pro652Ser	missense variant	-	NC_000006.12:g.56074243G>A	ExAC,gnomAD
rs1344160319	p.Gly653Val	missense variant	-	NC_000006.12:g.56074239C>A	gnomAD
rs1354051786	p.Ser654Phe	missense variant	-	NC_000006.12:g.56074236G>A	TOPMed
rs1272887246	p.Lys655Glu	missense variant	-	NC_000006.12:g.56074234T>C	gnomAD
rs1414338275	p.Gly656Glu	missense variant	-	NC_000006.12:g.56070797C>T	gnomAD
rs1403377389	p.Ser657Gly	missense variant	-	NC_000006.12:g.56070795T>C	gnomAD
COSM3628844	p.Gly659Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56070788C>T	NCI-TCGA Cosmic
rs1032551188	p.Glu660Gln	missense variant	-	NC_000006.12:g.56070786C>G	TOPMed
COSM3922010	p.Glu660Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56070786C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile663Ser	missense variant	-	NC_000006.12:g.56070776A>C	NCI-TCGA
rs200999181	p.Gly665Val	missense variant	-	NC_000006.12:g.56070770C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200999181	p.Gly665Ala	missense variant	-	NC_000006.12:g.56070770C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1183045320	p.Gly665Trp	missense variant	-	NC_000006.12:g.56070771C>A	gnomAD
rs1186754485	p.Met666Leu	missense variant	-	NC_000006.12:g.56070768T>A	gnomAD
NCI-TCGA novel	p.Pro667Leu	missense variant	-	NC_000006.12:g.56070764G>A	NCI-TCGA
NCI-TCGA novel	p.Gly668Val	missense variant	-	NC_000006.12:g.56070761C>A	NCI-TCGA
rs765881497	p.Ala669Ser	missense variant	-	NC_000006.12:g.56070759C>A	ExAC,gnomAD
rs199910287	p.Ala669Val	missense variant	-	NC_000006.12:g.56070758G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu672Phe	missense variant	-	NC_000006.12:g.56070750G>A	NCI-TCGA
rs761203623	p.Lys673Gln	missense variant	-	NC_000006.12:g.56070747T>G	ExAC,gnomAD
COSM3628841	p.Gly674Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56069117C>T	NCI-TCGA Cosmic
rs1248342083	p.Glu675Val	missense variant	-	NC_000006.12:g.56069113T>A	gnomAD
rs746496717	p.Glu675Asp	missense variant	-	NC_000006.12:g.56069112T>G	ExAC,gnomAD
rs754521132	p.Glu675Ter	stop gained	-	NC_000006.12:g.56069114C>A	ExAC,gnomAD
rs779813111	p.Pro676Leu	missense variant	-	NC_000006.12:g.56069110G>A	ExAC,gnomAD
rs1319504161	p.Pro676Ser	missense variant	-	NC_000006.12:g.56069111G>A	gnomAD
rs757963308	p.Ala678Thr	missense variant	-	NC_000006.12:g.56069105C>T	ExAC,TOPMed,gnomAD
rs371094018	p.Thr679Met	missense variant	-	NC_000006.12:g.56069101G>A	ESP,ExAC,TOPMed,gnomAD
rs1339667596	p.Thr679Ala	missense variant	-	NC_000006.12:g.56069102T>C	TOPMed
rs1433433050	p.Gly680Cys	missense variant	-	NC_000006.12:g.56069099C>A	gnomAD
rs756413455	p.Gly680Val	missense variant	-	NC_000006.12:g.56069098C>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly683Ter	stop gained	-	NC_000006.12:g.56069090C>A	NCI-TCGA
COSM3628838	p.Gly683Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56069089C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu684Ter	stop gained	-	NC_000006.12:g.56069087C>A	NCI-TCGA
rs927609795	p.Gly686Ala	missense variant	-	NC_000006.12:g.56069080C>G	TOPMed
rs1433183134	p.Gly686Arg	missense variant	-	NC_000006.12:g.56069081C>T	gnomAD
rs1049724939	p.Met688Val	missense variant	-	NC_000006.12:g.56069075T>C	gnomAD
rs1348329661	p.Gly689Asp	missense variant	-	NC_000006.12:g.56069071C>T	TOPMed,gnomAD
rs1348329661	p.Gly689Ala	missense variant	-	NC_000006.12:g.56069071C>G	TOPMed,gnomAD
rs759722305	p.Pro691His	missense variant	-	NC_000006.12:g.56069065G>T	ExAC,gnomAD
rs759722305	p.Pro691Leu	missense variant	-	NC_000006.12:g.56069065G>A	ExAC,gnomAD
rs768012041	p.Pro691Ser	missense variant	-	NC_000006.12:g.56069066G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly692Trp	missense variant	-	NC_000006.12:g.56069063C>A	NCI-TCGA
rs766667430	p.Gly692Arg	missense variant	-	NC_000006.12:g.56069063C>T	ExAC,TOPMed,gnomAD
rs763112285	p.Gly692Glu	missense variant	-	NC_000006.12:g.56069062C>T	ExAC,TOPMed,gnomAD
rs773516495	p.Ile693Met	missense variant	-	NC_000006.12:g.56069058A>C	ExAC,gnomAD
rs916432715	p.Gln694His	missense variant	-	NC_000006.12:g.56069055T>G	TOPMed,gnomAD
rs769722166	p.Gly695Glu	missense variant	-	NC_000006.12:g.56069053C>T	ExAC,gnomAD
rs776776254	p.Lys696Glu	missense variant	-	NC_000006.12:g.56069051T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly698Glu	missense variant	-	NC_000006.12:g.56067329C>T	NCI-TCGA
rs1428750512	p.Asp699Asn	missense variant	-	NC_000006.12:g.56067327C>T	TOPMed
COSM1445258	p.Gly701Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56067320C>T	NCI-TCGA Cosmic
rs528794194	p.Asn702Ser	missense variant	-	NC_000006.12:g.56067317T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs768677481	p.Gly704Asp	missense variant	-	NC_000006.12:g.56067311C>T	ExAC,gnomAD
rs760553234	p.Lys706Asn	missense variant	-	NC_000006.12:g.56067304T>G	ExAC,TOPMed,gnomAD
COSM1080486	p.Lys706Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56067306T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly707Val	missense variant	-	NC_000006.12:g.56067302C>A	NCI-TCGA
rs1207150995	p.Gly707Cys	missense variant	-	NC_000006.12:g.56067303C>A	TOPMed,gnomAD
rs775441771	p.Ile708Thr	missense variant	-	NC_000006.12:g.56067299A>G	ExAC,gnomAD
rs771488206	p.Gln709Ter	stop gained	-	NC_000006.12:g.56067297G>A	ExAC,gnomAD
rs1205855821	p.Gly710Val	missense variant	-	NC_000006.12:g.56064621C>A	TOPMed
COSM3628831	p.Gln711Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.56064619G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys712ProTerGlyValSerLysArgTerProIle	stop gained	-	NC_000006.12:g.56064613_56064614insAATTGGCTACCTCTTACTCACCCCTCAAGG	NCI-TCGA
NCI-TCGA novel	p.Lys712ArgPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.56064615T>-	NCI-TCGA
NCI-TCGA novel	p.Gly713Glu	missense variant	-	NC_000006.12:g.56064612C>T	NCI-TCGA
NCI-TCGA novel	p.Gly713Ter	stop gained	-	NC_000006.12:g.56064613C>A	NCI-TCGA
rs762094164	p.Glu714Gly	missense variant	-	NC_000006.12:g.56064609T>C	ExAC,gnomAD
rs1394241464	p.Gly716Ala	missense variant	-	NC_000006.12:g.56064603C>G	gnomAD
NCI-TCGA novel	p.Arg717Ile	missense variant	-	NC_000006.12:g.56064600C>A	NCI-TCGA
rs754049686	p.Arg717Thr	missense variant	-	NC_000006.12:g.56064600C>G	ExAC,gnomAD
rs763809803	p.Gly719Arg	missense variant	-	NC_000006.12:g.56064595C>T	ExAC,TOPMed
COSM3628828	p.Gly719Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56064594C>T	NCI-TCGA Cosmic
COSM3628825	p.Pro721Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56064589G>A	NCI-TCGA Cosmic
rs775356405	p.Gln723Lys	missense variant	-	NC_000006.12:g.56064583G>T	ExAC,gnomAD
rs552452598	p.Gln724Ter	stop gained	-	NC_000006.12:g.56064580G>A	TOPMed,gnomAD
rs764373276	p.His730Arg	missense variant	-	NC_000006.12:g.56061665T>C	ExAC,gnomAD
rs201892311	p.His730Asp	missense variant	-	NC_000006.12:g.56061666G>C	ESP,ExAC,TOPMed,gnomAD
rs1447839343	p.Gly731Asp	missense variant	-	NC_000006.12:g.56061662C>T	TOPMed,gnomAD
COSM6174891	p.Gly734Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56061653C>A	NCI-TCGA Cosmic
rs1278101963	p.Gly737Val	missense variant	-	NC_000006.12:g.56061033C>A	gnomAD
rs1351410275	p.Lys739Asn	missense variant	-	NC_000006.12:g.56061026C>G	TOPMed
NCI-TCGA novel	p.Gly740Arg	missense variant	-	NC_000006.12:g.56061025C>T	NCI-TCGA
COSM5078304	p.Glu741Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56061022C>T	NCI-TCGA Cosmic
rs1349245380	p.Gly743Ala	missense variant	-	NC_000006.12:g.56061015C>G	gnomAD
NCI-TCGA novel	p.Val744Phe	missense variant	-	NC_000006.12:g.56061013C>A	NCI-TCGA
rs1286078327	p.Val744Asp	missense variant	-	NC_000006.12:g.56061012A>T	TOPMed
rs1238864585	p.Val744Ile	missense variant	-	NC_000006.12:g.56061013C>T	TOPMed
rs777906725	p.Arg745Ter	stop gained	-	NC_000006.12:g.56061010G>A	ExAC,TOPMed,gnomAD
rs752826681	p.Gly746Ser	missense variant	-	NC_000006.12:g.56061007C>T	ExAC,gnomAD
rs9464337	p.Ala747Asp	missense variant	-	NC_000006.12:g.56061003G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369414780	p.Ile748Thr	missense variant	-	NC_000006.12:g.56061000A>G	ExAC,gnomAD
rs1430215035	p.Gly749Arg	missense variant	-	NC_000006.12:g.56060998C>T	gnomAD
rs561341748	p.Ser750Pro	missense variant	-	NC_000006.12:g.56060995A>G	1000Genomes,TOPMed
rs751500082	p.Lys751Asn	missense variant	-	NC_000006.12:g.56060990T>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly752Ter	stop gained	-	NC_000006.12:g.56060989C>A	NCI-TCGA
COSM3628822	p.Gly752Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56060988C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu753Lys	missense variant	-	NC_000006.12:g.56060986C>T	NCI-TCGA
rs76146749	p.Glu753Val	missense variant	-	NC_000006.12:g.56060985T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1182460460	p.Ser754Phe	missense variant	-	NC_000006.12:g.56060982G>A	gnomAD
rs762424677	p.Ser754Pro	missense variant	-	NC_000006.12:g.56060983A>G	ExAC,TOPMed,gnomAD
rs772755740	p.Gly755Val	missense variant	-	NC_000006.12:g.56060979C>A	ExAC,gnomAD
rs960997927	p.Gly755Arg	missense variant	-	NC_000006.12:g.56060980C>T	TOPMed,gnomAD
rs960997927	p.Gly755Trp	missense variant	-	NC_000006.12:g.56060980C>A	TOPMed,gnomAD
rs761555786	p.Val756Met	missense variant	-	NC_000006.12:g.56060977C>T	ExAC,TOPMed,gnomAD
rs1264603796	p.Gly758Asp	missense variant	-	NC_000006.12:g.56060970C>T	gnomAD
rs1391654688	p.Gly758Cys	missense variant	-	NC_000006.12:g.56060971C>A	TOPMed
rs772571145	p.Met760Ile	missense variant	-	NC_000006.12:g.56060963C>T	ExAC,TOPMed,gnomAD
rs201839603	p.Met760Arg	missense variant	-	NC_000006.12:g.56060964A>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala763GlnPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.56060960C>-	NCI-TCGA
rs775055829	p.Ala763Thr	missense variant	-	NC_000006.12:g.56060956C>T	ExAC,TOPMed,gnomAD
rs1318220380	p.Ala763Val	missense variant	-	NC_000006.12:g.56060955G>A	TOPMed
rs1410181017	p.Gly764Ser	missense variant	-	NC_000006.12:g.56060953C>T	gnomAD
COSM3697913	p.Pro765Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56060950G>T	NCI-TCGA Cosmic
rs749371683	p.Gly767Arg	missense variant	-	NC_000006.12:g.56060944C>T	ExAC,gnomAD
rs769715793	p.Pro769Ser	missense variant	-	NC_000006.12:g.56060938G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly770Val	missense variant	-	NC_000006.12:g.56060934C>A	NCI-TCGA
rs781322450	p.Gly770Trp	missense variant	-	NC_000006.12:g.56060935C>A	ExAC,TOPMed,gnomAD
COSM3628818	p.Gly770Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56060934C>T	NCI-TCGA Cosmic
rs754832242	p.Asp771Glu	missense variant	-	NC_000006.12:g.56060930A>T	ExAC,gnomAD
rs866248635	p.Asp771Asn	missense variant	-	NC_000006.12:g.56060932C>T	TOPMed,gnomAD
rs866248635	p.Asp771His	missense variant	-	NC_000006.12:g.56060932C>G	TOPMed,gnomAD
rs375415415	p.Pro772Ser	missense variant	-	NC_000006.12:g.56060929G>A	ESP,ExAC,TOPMed,gnomAD
rs375415415	p.Pro772Thr	missense variant	-	NC_000006.12:g.56060929G>T	ESP,ExAC,TOPMed,gnomAD
rs375415415	p.Pro772Ala	missense variant	-	NC_000006.12:g.56060929G>C	ESP,ExAC,TOPMed,gnomAD
rs1461600298	p.Gln775Ter	stop gained	-	NC_000006.12:g.56060920G>A	gnomAD
rs1027851782	p.Gly776Arg	missense variant	-	NC_000006.12:g.56060917C>T	TOPMed,gnomAD
COSM3628815	p.Gly776Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56060916C>T	NCI-TCGA Cosmic
rs750287951	p.Pro777His	missense variant	-	NC_000006.12:g.56060913G>T	ExAC,TOPMed,gnomAD
rs191110368	p.Pro777Ser	missense variant	-	NC_000006.12:g.56060914G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs191110368	p.Pro777Thr	missense variant	-	NC_000006.12:g.56060914G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs750287951	p.Pro777Arg	missense variant	-	NC_000006.12:g.56060913G>C	ExAC,TOPMed,gnomAD
rs761169667	p.Pro778Arg	missense variant	-	NC_000006.12:g.56060910G>C	ExAC,TOPMed,gnomAD
rs761169667	p.Pro778Leu	missense variant	-	NC_000006.12:g.56060910G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly779Asp	missense variant	-	NC_000006.12:g.56060907C>T	NCI-TCGA
rs1353540944	p.Gly779Ala	missense variant	-	NC_000006.12:g.56060907C>G	gnomAD
rs545860371	p.Asp781Glu	missense variant	-	NC_000006.12:g.56060900A>C	1000Genomes
rs1282935185	p.Asp781Tyr	missense variant	-	NC_000006.12:g.56060902C>A	gnomAD
NCI-TCGA novel	p.Pro784Leu	missense variant	-	NC_000006.12:g.56060892G>A	NCI-TCGA
rs753612825	p.Pro784Thr	missense variant	-	NC_000006.12:g.56060893G>T	ExAC,gnomAD
rs766784184	p.Gly785Arg	missense variant	-	NC_000006.12:g.56060795C>G	ExAC,TOPMed,gnomAD
COSM3628812	p.Gly785Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56060795C>T	NCI-TCGA Cosmic
COSM3628809	p.Gly785Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56060794C>T	NCI-TCGA Cosmic
rs199722485	p.Arg786Ser	missense variant	-	NC_000006.12:g.56060790T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu787Lys	missense variant	-	NC_000006.12:g.56060789C>T	NCI-TCGA
rs553856739	p.Glu787Val	missense variant	-	NC_000006.12:g.56060788T>A	1000Genomes,ExAC,gnomAD
COSM6174894	p.Glu787Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.56060789C>A	NCI-TCGA Cosmic
rs1199474163	p.Phe788Leu	missense variant	-	NC_000006.12:g.56060786A>G	gnomAD
NCI-TCGA novel	p.Glu790AspPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.56060778_56060779insAGAGGATATAAGTGAGGTGAAGAAGAAAACAGATAACA	NCI-TCGA
rs1490671294	p.Glu790Gln	missense variant	-	NC_000006.12:g.56060780C>G	gnomAD
rs776658592	p.Gln791Lys	missense variant	-	NC_000006.12:g.56060777G>T	ExAC,gnomAD
rs201203132	p.Arg794Pro	missense variant	-	NC_000006.12:g.56060767C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201203132	p.Arg794Gln	missense variant	-	NC_000006.12:g.56060767C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs377112827	p.Arg794Ter	stop gained	-	NC_000006.12:g.56060768G>A	ESP,ExAC,TOPMed,gnomAD
rs574540808	p.Gln795His	missense variant	-	NC_000006.12:g.56060763T>G	1000Genomes
rs1464465293	p.Gln795Leu	missense variant	-	NC_000006.12:g.56060764T>A	TOPMed
rs775517458	p.Gln795Lys	missense variant	-	NC_000006.12:g.56060765G>T	ExAC,gnomAD
rs775517458	p.Gln795Ter	stop gained	-	NC_000006.12:g.56060765G>A	ExAC,gnomAD
rs1216579675	p.Val796Ile	missense variant	-	NC_000006.12:g.56060762C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Cys797LeuPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.56060758_56060759insA	NCI-TCGA
NCI-TCGA novel	p.Cys797Tyr	missense variant	-	NC_000006.12:g.56060758C>T	NCI-TCGA
NCI-TCGA novel	p.Asp799Tyr	missense variant	-	NC_000006.12:g.56060753C>A	NCI-TCGA
rs771903984	p.Asp799His	missense variant	-	NC_000006.12:g.56060753C>G	ExAC
rs745637173	p.Val800Ile	missense variant	-	NC_000006.12:g.56060750C>T	ExAC,TOPMed,gnomAD
rs778958281	p.Arg802Ter	stop gained	-	NC_000006.12:g.56060744T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala803Ser	missense variant	-	NC_000006.12:g.56060741C>A	NCI-TCGA
rs764172017	p.Ala803Gly	missense variant	-	NC_000006.12:g.56060218G>C	ExAC,TOPMed,gnomAD
rs550920390	p.Gln804His	missense variant	-	NC_000006.12:g.56060214C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs200564236	p.Pro806Ser	missense variant	-	NC_000006.12:g.56060210G>A	ESP,ExAC,TOPMed,gnomAD
rs1476563920	p.Pro806Leu	missense variant	-	NC_000006.12:g.56060209G>A	TOPMed
rs750613366	p.Val807Ala	missense variant	-	NC_000006.12:g.56060206A>G	ExAC,TOPMed,gnomAD
rs772162888	p.Val807Ile	missense variant	-	NC_000006.12:g.56060207C>T	ExAC,gnomAD
rs770804500	p.Gln810Arg	missense variant	-	NC_000006.12:g.56060197T>C	ExAC,TOPMed,gnomAD
rs770804500	p.Gln810Leu	missense variant	-	NC_000006.12:g.56060197T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly812Glu	missense variant	-	NC_000006.12:g.56060191C>T	NCI-TCGA
rs749253480	p.Arg813Ile	missense variant	-	NC_000006.12:g.56060188C>A	ExAC,gnomAD
rs749253480	p.Arg813Lys	missense variant	-	NC_000006.12:g.56060188C>T	ExAC,gnomAD
rs1317510793	p.Asn816Ser	missense variant	-	NC_000006.12:g.56060179T>C	gnomAD
COSM1080478	p.Asn816His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56060180T>G	NCI-TCGA Cosmic
rs1243595638	p.Asp818Val	missense variant	-	NC_000006.12:g.56060173T>A	gnomAD
rs777790579	p.Asp818Asn	missense variant	-	NC_000006.12:g.56060174C>T	ExAC,gnomAD
rs375165085	p.His819Asn	missense variant	-	NC_000006.12:g.56060171G>T	ESP,gnomAD
COSM3628806	p.His819Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56060171G>A	NCI-TCGA Cosmic
COSM6107354	p.Cys820Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.56060166G>T	NCI-TCGA Cosmic
rs12209452	p.Leu821Arg	missense variant	-	NC_000006.12:g.56060164A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs12209452	p.Leu821Pro	missense variant	-	NC_000006.12:g.56060164A>G	UniProt,dbSNP
VAR_038560	p.Leu821Pro	missense variant	-	NC_000006.12:g.56060164A>G	UniProt
rs12209452	p.Leu821Pro	missense variant	-	NC_000006.12:g.56060164A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs565539780	p.Ser822Tyr	missense variant	-	NC_000006.12:g.56060161G>T	1000Genomes,ExAC,gnomAD
COSM3158293	p.Ser822Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56060161G>A	NCI-TCGA Cosmic
rs1453847218	p.Gly825Ala	missense variant	-	NC_000006.12:g.56060152C>G	gnomAD
NCI-TCGA novel	p.Pro827ArgPheSerTerUnkUnkUnk	frameshift	-	NC_000006.12:g.56060146_56060147insGGGAGCC	NCI-TCGA
rs1555131	p.Pro827Ala	missense variant	-	NC_000006.12:g.56060147G>C	UniProt,dbSNP
VAR_038561	p.Pro827Ala	missense variant	-	NC_000006.12:g.56060147G>C	UniProt
rs1555131	p.Pro827Ala	missense variant	-	NC_000006.12:g.56060147G>C	gnomAD
rs369298003	p.Pro827Leu	missense variant	-	NC_000006.12:g.56060146G>A	ESP,ExAC,TOPMed,gnomAD
COSM3922004	p.Pro830Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56060138G>A	NCI-TCGA Cosmic
rs1032884948	p.Pro832Ser	missense variant	-	NC_000006.12:g.56060132G>A	TOPMed
rs376027281	p.Pro835Leu	missense variant	-	NC_000006.12:g.56060122G>A	ESP,ExAC,TOPMed,gnomAD
rs1446728322	p.Ile836Met	missense variant	-	NC_000006.12:g.56060118T>C	gnomAD
rs867801414	p.Pro838Leu	missense variant	-	NC_000006.12:g.56060113G>A	-
NCI-TCGA novel	p.Glu839Asp	missense variant	-	NC_000006.12:g.56060109C>A	NCI-TCGA
rs545720049	p.Glu839Lys	missense variant	-	NC_000006.12:g.56060111C>T	1000Genomes,ExAC,gnomAD
rs1261919531	p.Gly840Asp	missense variant	-	NC_000006.12:g.56060107C>T	TOPMed
rs1204222305	p.Gly840Ser	missense variant	-	NC_000006.12:g.56060108C>T	TOPMed
rs1486238937	p.Pro841Leu	missense variant	-	NC_000006.12:g.56060104G>A	gnomAD
rs576880927	p.Arg842Lys	missense variant	-	NC_000006.12:g.56060101C>T	1000Genomes,ExAC,gnomAD
rs371442033	p.Pro845Thr	missense variant	-	NC_000006.12:g.56060093G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly846Arg	missense variant	-	NC_000006.12:g.56060090C>G	NCI-TCGA
rs774578418	p.Leu847Phe	missense variant	-	NC_000006.12:g.56060085C>A	ExAC,TOPMed,gnomAD
COSM6107357	p.Leu847Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56060085C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly849Glu	missense variant	-	NC_000006.12:g.56060080C>T	NCI-TCGA
rs1294749799	p.Arg850Ile	missense variant	-	NC_000006.12:g.56060077C>A	TOPMed,gnomAD
rs770857620	p.Asp851Asn	missense variant	-	NC_000006.12:g.56060075C>T	ExAC,gnomAD
rs770857620	p.Asp851His	missense variant	-	NC_000006.12:g.56060075C>G	ExAC,gnomAD
rs1453084916	p.Asp851Gly	missense variant	-	NC_000006.12:g.56060074T>C	TOPMed
rs540310046	p.Gly852Cys	missense variant	-	NC_000006.12:g.56060072C>A	1000Genomes,ExAC,gnomAD
rs574479791	p.Val853Phe	missense variant	-	NC_000006.12:g.56060069C>A	1000Genomes,ExAC,gnomAD
rs769828742	p.Pro854Leu	missense variant	-	NC_000006.12:g.56060065G>A	ExAC,gnomAD
rs747729983	p.Gly855Val	missense variant	-	NC_000006.12:g.56060062C>A	ExAC,gnomAD
rs1035954726	p.Arg862Cys	missense variant	-	NC_000006.12:g.56060042G>A	gnomAD
rs375936410	p.Arg862Leu	missense variant	-	NC_000006.12:g.56060041C>A	ESP,ExAC,TOPMed,gnomAD
rs375936410	p.Arg862His	missense variant	-	NC_000006.12:g.56060041C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro863Leu	missense variant	-	NC_000006.12:g.56060038G>A	NCI-TCGA
NCI-TCGA novel	p.Gly867Val	missense variant	-	NC_000006.12:g.56060026C>A	NCI-TCGA
NCI-TCGA novel	p.Lys869Gln	missense variant	-	NC_000006.12:g.56060021T>G	NCI-TCGA
rs1453227110	p.Gly870Asp	missense variant	-	NC_000006.12:g.56059242C>T	TOPMed
COSM4862707	p.Gly870Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56059242C>A	NCI-TCGA Cosmic
rs779738631	p.Gly873Arg	missense variant	-	NC_000006.12:g.56059234C>T	ExAC,TOPMed,gnomAD
COSM4897070	p.Arg874Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56059230C>T	NCI-TCGA Cosmic
rs1334477710	p.Gly876Val	missense variant	-	NC_000006.12:g.56059224C>A	TOPMed,gnomAD
rs1334477710	p.Gly876Ala	missense variant	-	NC_000006.12:g.56059224C>G	TOPMed,gnomAD
rs867948640	p.Glu877Lys	missense variant	-	NC_000006.12:g.56059222C>T	-
NCI-TCGA novel	p.Glu877AspPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.56059220_56059221insG	NCI-TCGA
NCI-TCGA novel	p.Gly879Glu	missense variant	-	NC_000006.12:g.56059215C>T	NCI-TCGA
rs771682252	p.Ser880Asn	missense variant	-	NC_000006.12:g.56059212C>T	ExAC,TOPMed,gnomAD
rs1430106625	p.Gln881Arg	missense variant	-	NC_000006.12:g.56059209T>C	gnomAD
rs370832811	p.Gln881Ter	stop gained	-	NC_000006.12:g.56059210G>A	ESP,ExAC,TOPMed,gnomAD
rs756445035	p.Gly882Ala	missense variant	-	NC_000006.12:g.56059206C>G	ExAC,gnomAD
rs115079907	p.Gly882Arg	missense variant	-	NC_000006.12:g.56059207C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756445035	p.Gly882Val	missense variant	-	NC_000006.12:g.56059206C>A	ExAC,gnomAD
rs543903916	p.Tyr885Cys	missense variant	-	NC_000006.12:g.56059197T>C	1000Genomes,ExAC
rs374601589	p.Tyr885Ter	stop gained	-	NC_000006.12:g.56059196A>C	ESP,ExAC,TOPMed
rs1363147065	p.Pro886Thr	missense variant	-	NC_000006.12:g.56059195G>T	gnomAD
rs1363147065	p.Pro886Ala	missense variant	-	NC_000006.12:g.56059195G>C	gnomAD
NCI-TCGA novel	p.Gly887Arg	missense variant	-	NC_000006.12:g.56059192C>T	NCI-TCGA
COSM1080474	p.Glu888Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.56059189C>A	NCI-TCGA Cosmic
rs1240981411	p.Gly890Ser	missense variant	-	NC_000006.12:g.56059183C>T	gnomAD
rs1240981411	p.Gly890Cys	missense variant	-	NC_000006.12:g.56059183C>A	gnomAD
NCI-TCGA novel	p.Pro891His	missense variant	-	NC_000006.12:g.56059179G>T	NCI-TCGA
rs992882562	p.Pro891Thr	missense variant	-	NC_000006.12:g.56059180G>T	TOPMed
rs958916097	p.Pro892Ser	missense variant	-	NC_000006.12:g.56059177G>A	TOPMed,gnomAD
COSM4903691	p.Gly893Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56059174C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro894His	missense variant	-	NC_000006.12:g.56059170G>T	NCI-TCGA
rs200478915	p.Pro894Leu	missense variant	-	NC_000006.12:g.56059170G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200478915	p.Pro894Arg	missense variant	-	NC_000006.12:g.56059170G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1221553849	p.Pro895Gln	missense variant	-	NC_000006.12:g.56059167G>T	gnomAD
rs1227451022	p.Gly896Arg	missense variant	-	NC_000006.12:g.56059165C>G	gnomAD
rs1386238991	p.Gly899Ser	missense variant	-	NC_000006.12:g.56057836C>T	gnomAD
rs748535992	p.Pro900Arg	missense variant	-	NC_000006.12:g.56057832G>C	ExAC,gnomAD
rs1284288830	p.Pro901Thr	missense variant	-	NC_000006.12:g.56057830G>T	TOPMed,gnomAD
rs1284288830	p.Pro901Ala	missense variant	-	NC_000006.12:g.56057830G>C	TOPMed,gnomAD
rs868537548	p.Pro901Leu	missense variant	-	NC_000006.12:g.56057829G>A	gnomAD
rs1356423167	p.Gly902Arg	missense variant	-	NC_000006.12:g.56057827C>G	gnomAD
rs912640531	p.Gly902Ala	missense variant	-	NC_000006.12:g.56057826C>G	TOPMed,gnomAD
COSM5164503	p.Gly902MetPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.56057828_56057829insGGAGGGCCCTCTGGACCTAAGATGGGACATT	NCI-TCGA Cosmic
rs1383892580	p.Ile903Val	missense variant	-	NC_000006.12:g.56057824T>C	gnomAD
rs766194518	p.Ser904Asn	missense variant	-	NC_000006.12:g.56057820C>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys905Asn	missense variant	-	NC_000006.12:g.56057816T>G	NCI-TCGA
rs1428828177	p.Lys905Ter	stop gained	-	NC_000006.12:g.56057818T>A	gnomAD
rs1428828177	p.Lys905Glu	missense variant	-	NC_000006.12:g.56057818T>C	gnomAD
rs747474691	p.Glu906Gln	missense variant	-	NC_000006.12:g.56057815C>G	ExAC,TOPMed,gnomAD
rs1319021336	p.Pro909Ser	missense variant	-	NC_000006.12:g.56057806G>A	gnomAD
NCI-TCGA novel	p.Asp911His	missense variant	-	NC_000006.12:g.56057800C>G	NCI-TCGA
rs1329953487	p.Leu914Val	missense variant	-	NC_000006.12:g.56057791G>C	TOPMed
rs1162759515	p.Lys917Glu	missense variant	-	NC_000006.12:g.56057782T>C	gnomAD
rs559516314	p.Asp918Asn	missense variant	-	NC_000006.12:g.56057779C>T	1000Genomes,TOPMed
rs758492507	p.Asp918Glu	missense variant	-	NC_000006.12:g.56057777A>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly919Arg	missense variant	-	NC_000006.12:g.56057776C>T	NCI-TCGA
rs750677253	p.Gly919Val	missense variant	-	NC_000006.12:g.56057775C>A	ExAC,TOPMed,gnomAD
rs750677253	p.Gly919Glu	missense variant	-	NC_000006.12:g.56057775C>T	ExAC,TOPMed,gnomAD
rs925430932	p.Asp920Glu	missense variant	-	NC_000006.12:g.56057771G>C	TOPMed
rs1184429541	p.Asp920Gly	missense variant	-	NC_000006.12:g.56057772T>C	gnomAD
NCI-TCGA novel	p.His921Asn	missense variant	-	NC_000006.12:g.56057770G>T	NCI-TCGA
rs765492111	p.His921Asp	missense variant	-	NC_000006.12:g.56057770G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly922Val	missense variant	-	NC_000006.12:g.56057766C>A	NCI-TCGA
rs753645403	p.Pro924Ser	missense variant	-	NC_000006.12:g.56057761G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly925Ter	stop gained	-	NC_000006.12:g.56057758C>A	NCI-TCGA
NCI-TCGA novel	p.Gly925Val	missense variant	-	NC_000006.12:g.56057757C>A	NCI-TCGA
COSM3628798	p.Gly925Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56057757C>T	NCI-TCGA Cosmic
COSM4896860	p.Gly925Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56057758C>T	NCI-TCGA Cosmic
COSM1080472	p.Gln929Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.56057746G>A	NCI-TCGA Cosmic
rs201992128	p.Pro930Ala	missense variant	-	NC_000006.12:g.56057743G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly931Cys	missense variant	-	NC_000006.12:g.56057740C>A	NCI-TCGA
COSM3628795	p.Gly931Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56057740C>T	NCI-TCGA Cosmic
rs759045064	p.Pro932Ser	missense variant	-	NC_000006.12:g.56057737G>A	ExAC,TOPMed,gnomAD
rs759045064	p.Pro932Thr	missense variant	-	NC_000006.12:g.56057737G>T	ExAC,TOPMed,gnomAD
rs1213061248	p.Pro932Leu	missense variant	-	NC_000006.12:g.56057736G>A	gnomAD
rs770598007	p.Gly934Asp	missense variant	-	NC_000006.12:g.56057730C>T	ExAC,gnomAD
NCI-TCGA novel	p.Cys936Tyr	missense variant	-	NC_000006.12:g.56057724C>T	NCI-TCGA
rs747529457	p.Asp937Gly	missense variant	-	NC_000006.12:g.56057721T>C	ExAC,gnomAD
rs563672300	p.Asp937Asn	missense variant	-	NC_000006.12:g.56057722C>T	1000Genomes,TOPMed,gnomAD
rs1412679648	p.Asp937Glu	missense variant	-	NC_000006.12:g.56057720G>T	TOPMed
rs563672300	p.Asp937His	missense variant	-	NC_000006.12:g.56057722C>G	1000Genomes,TOPMed,gnomAD
rs772343661	p.Cys941Tyr	missense variant	-	NC_000006.12:g.56057709C>T	ExAC,gnomAD
rs1172273962	p.Ile945Thr	missense variant	-	NC_000006.12:g.56057697A>G	gnomAD
rs193200197	p.Ala946Gly	missense variant	-	NC_000006.12:g.56057694G>C	1000Genomes
rs753959414	p.Ala946Ser	missense variant	-	NC_000006.12:g.56057695C>A	ExAC,gnomAD
COSM1080470	p.Ala946Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56057695C>T	NCI-TCGA Cosmic
rs1202841308	p.Arg948Ser	missense variant	-	NC_000006.12:g.56057687T>G	gnomAD
rs1248860748	p.Arg948Lys	missense variant	-	NC_000006.12:g.56057688C>T	TOPMed,gnomAD
rs1307194026	p.Asp949Val	missense variant	-	NC_000006.12:g.56057685T>A	gnomAD
rs369126858	p.Pro950Leu	missense variant	-	NC_000006.12:g.56057682G>A	ESP,ExAC,TOPMed,gnomAD
rs1321533965	p.Phe951Leu	missense variant	-	NC_000006.12:g.56057678G>T	TOPMed,gnomAD
rs1321533965	p.Phe951Leu	missense variant	-	NC_000006.12:g.56057678G>C	TOPMed,gnomAD
rs767432926	p.Lys953Arg	missense variant	-	NC_000006.12:g.56057673T>C	ExAC,gnomAD
rs1224089906	p.Lys953Asn	missense variant	-	NC_000006.12:g.56057672T>G	gnomAD
NCI-TCGA novel	p.Gly954Ter	stop gained	-	NC_000006.12:g.56057671C>A	NCI-TCGA
COSM1080468	p.Gly954Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56057670C>T	NCI-TCGA Cosmic
rs759100067	p.Pro955Leu	missense variant	-	NC_000006.12:g.56057667G>A	ExAC,TOPMed,gnomAD
rs371479157	p.Asn956Lys	missense variant	-	NC_000006.12:g.56057663G>C	ESP,ExAC,TOPMed,gnomAD
rs1441198745	p.Asn956Ser	missense variant	-	NC_000006.12:g.56057664T>C	TOPMed,gnomAD
rs1016699668	p.Asn956His	missense variant	-	NC_000006.12:g.56057665T>G	TOPMed,gnomAD
rs1005260526	p.Ter958Gln	stop lost	-	NC_000006.12:g.56057659A>G	TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0005823	Blood Pressure	phenotype	GWASDB
C0009171	Cocaine Abuse	disease	CTD_human
C0033975	Psychotic Disorders	group	GWASCAT
C0236736	Cocaine-Related Disorders	group	CTD_human
C0600427	Cocaine Dependence	disease	CTD_human
C1271104	Blood pressure finding	phenotype	GWASDB
C1272641	Systemic arterial pressure	phenotype	GWASDB

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA

GO:Biological Process

GO ID	GO Term	Evidence

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	TAS
GO:0005581	collagen trimer	IEA
GO:0005788	endoplasmic reticulum lumen	TAS
GO:0005829	cytosol	IDA
GO:0062023	collagen-containing extracellular matrix	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1474244	Extracellular matrix organization	TAS
R-HSA-1474290	Collagen formation	TAS
R-HSA-1650814	Collagen biosynthesis and modifying enzymes	TAS
R-HSA-8948216	Collagen chain trimerization	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of COL21A1 mRNA	28628672
C029497	2,3-bis(3'-hydroxybenzyl)butyrolactone	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in increased expression of COL21A1 mRNA	19167446
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in decreased expression of COL21A1 mRNA	28973690
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of COL21A1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat 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 COL21A1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with 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 COL21A1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of COL21A1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of COL21A1 mRNA	27188386
C496492	abrine	abrine results in decreased expression of COL21A1 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of COL21A1 mRNA	29067470
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of COL21A1 gene	27153756
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of COL21A1 mRNA	24449571
D001151	Arsenic	Arsenic affects the methylation of COL21A1 gene	25304211
D000077237	Arsenic Trioxide	[Tretinoin co-treated with Arsenic Trioxide] results in decreased expression of COL21A1 mRNA	15894607
C487081	belinostat	belinostat results in increased expression of COL21A1 mRNA	26272509
C543008	bis(4-hydroxyphenyl)sulfone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of COL21A1 mRNA	28628672
C018475	butyraldehyde	butyraldehyde results in decreased expression of COL21A1 mRNA	26079696
D003042	Cocaine	COL21A1 gene SNP affects the susceptibility to Cocaine	18438686
D003375	Coumestrol	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in increased expression of COL21A1 mRNA	19167446
D003375	Coumestrol	[Coumestrol co-treated with Resveratrol] results in increased expression of COL21A1 mRNA	19167446
D003375	Coumestrol	Coumestrol results in increased expression of COL21A1 mRNA	19167446
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of COL21A1 mRNA	28628672
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of COL21A1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat 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 COL21A1 mRNA	27188386
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 COL21A1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of COL21A1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of COL21A1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin affects the expression of COL21A1 mRNA	29803840
C118739	entinostat	entinostat results in increased expression of COL21A1 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of COL21A1 mRNA	27188386
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in decreased expression of COL21A1 mRNA	30165855
C545476	incobotulinumtoxinA	incobotulinumtoxinA results in increased expression of COL21A1 mRNA	29522793
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of COL21A1 mRNA	28628672
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of COL21A1 mRNA	23179753
D009532	Nickel	Nickel results in decreased expression of COL21A1 mRNA	24768652; 25583101;
C025589	ochratoxin A	ochratoxin A results in increased expression of COL21A1 mRNA	30559759
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat 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 COL21A1 mRNA	27188386
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 COL21A1 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of COL21A1 mRNA	26272509
D000077185	Resveratrol	[Coumestrol co-treated with Resveratrol] results in increased expression of COL21A1 mRNA	19167446
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of COL21A1 mRNA	25895662
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of COL21A1 mRNA	23806026
D018030	Silver Compounds	Silver Compounds results in increased expression of COL21A1 mRNA	29703973
C017947	sodium arsenite	sodium arsenite results in decreased expression of COL21A1 mRNA	29361514
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of COL21A1 mRNA	20106945
D013849	Thimerosal	Thimerosal results in increased expression of COL21A1 mRNA	16870260
D014212	Tretinoin	[Tretinoin co-treated with Arsenic Trioxide] results in decreased expression of COL21A1 mRNA	15894607
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of COL21A1 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of COL21A1 mRNA	24935251; 26272509;
D014260	Triclosan	Triclosan results in increased expression of COL21A1 mRNA	30510588
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of COL21A1 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in increased expression of COL21A1 mRNA	23179753; 24383497; 24935251; 26272509; 28001369; 29154799;
D000077337	Vorinostat	Vorinostat results in increased expression of COL21A1 mRNA	26272509

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0176	Collagen
KW-0963	Cytoplasm
KW-0272	Extracellular matrix
KW-0325	Glycoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0964	Secreted
KW-0732	Signal

Interpro

InterPro ID	InterPro Term
IPR008160	Collagen
IPR013320	ConA-like_dom_sf
IPR001791	Laminin_G
IPR002035	VWF_A
IPR036465	vWFA_dom_sf

PROSITE

PROSITE ID	PROSITE Term
PS50234	VWFA

Pfam

Pfam ID	Pfam Term
PF01391	Collagen
PF00092	VWA

Gene: COL21A1

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-miRNA interaction