CleftGeneDB-Search

Gene: PCGF2

Basic information

Tag	Content
Uniprot ID	P35227; A6NGD8;
Entrez ID	7703
Genbank protein ID	AAH24255.1; EAW60528.1; BAA03074.1; AAH04858.1;
Genbank nucleotide ID	XM_005257640.2; XM_005257641.4; XM_017025016.1; XM_005257642.3; NM_007144.2;
Ensembl protein ID	ENSP00000482815; ENSP00000482063; ENSP00000488872; ENSP00000478517; ENSP00000478970; ENSP00000488868;
Ensembl nucleotide ID	ENSG00000278644; ENSG00000277258;
Gene name	Polycomb group RING finger protein 2
Gene symbol	PCGF2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Transcriptional repressor. Binds specifically to the DNA sequence 5'-GACTNGACT-3'. Has tumor suppressor activity. May play a role in control of cell proliferation and/or neural cell development. Regulates proliferation of early T progenitor cells by maintaining expression of HES1. Also plays a role in antero-posterior specification of the axial skeleton and negative regulation of the self-renewal activity of hematopoietic stem cells (By similarity). Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:26151332). Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity (PubMed:26151332).
Sequence	MHRTTRIKIT ELNPHLMCAL CGGYFIDATT IVECLHSFCK TCIVRYLETN KYCPMCDVQV 60 HKTRPLLSIR SDKTLQDIVY KLVPGLFKDE MKRRRDFYAA YPLTEVPNGS NEDRGEVLEQ 120 EKGALSDDEI VSLSIEFYEG ARDRDEKKGP LENGDGDKEK TGVRFLRCPA AMTVMHLAKF 180 LRNKMDVPSK YKVEVLYEDE PLKEYYTLMD IAYIYPWRRN GPLPLKYRVQ PACKRLTLAT 240 VPTPSEGTNT SGASECESVS DKAPSPATLP ATSSSLPSPA TPSHGSPSSH GPPATHPTSP 300 TPPSTASGAT TAANGGSLNC LQTPSSTSRG RKMTVNGAPV PPLT 344

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

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	PCGF2	505147	E1BMR4		Bos taurus	Prediction	More>>
1:1 ortholog	PCGF2	102174970	A0A452F706		Capra hircus	Prediction	More>>
1:1 ortholog	PCGF2	7703	P35227		Homo sapiens	Prediction	More>>
1:1 ortholog	Pcgf2	22658	P23798	CPO	Mus musculus	Publication	More>>
1:1 ortholog	PCGF2	454614	H2QCT2		Pan troglodytes	Prediction	More>>
1:1 ortholog	PCGF2		A0A287A7A5		Sus scrofa	Prediction	More>>
1:1 ortholog	Pcgf2	287662	B2RZ82		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1164566149	p.His2Pro	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541185T>G	TOPMed,gnomAD
rs774706646	p.Arg3Leu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541182C>A	ExAC,TOPMed,gnomAD
rs774706646	p.Arg3Gln	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541182C>T	ExAC,TOPMed,gnomAD
rs779496705	p.Arg6Gln	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541173C>T	ExAC,gnomAD
rs749819496	p.Arg6Gly	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541174G>C	ExAC,gnomAD
rs749819496	p.Arg6Trp	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541174G>A	ExAC,gnomAD
rs1251160108	p.Thr10Arg	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541161G>C	gnomAD
rs780765988	p.Pro14Thr	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541150G>T	ExAC,gnomAD
rs757069949	p.Leu16Ile	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541144G>T	ExAC,gnomAD
rs757069949	p.Leu16Phe	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541144G>A	ExAC,gnomAD
rs751245494	p.Met17Ile	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541139C>T	ExAC,TOPMed,gnomAD
rs777722903	p.Ala19Pro	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541135C>G	ExAC,gnomAD
rs1335630874	p.Leu20Ile	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541132G>T	gnomAD
rs752723799	p.Gly22Arg	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541126C>T	ExAC,TOPMed,gnomAD
rs752723799	p.Gly22Trp	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541126C>A	ExAC,TOPMed,gnomAD
rs1388718872	p.Gly23Glu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541122C>T	gnomAD
rs1420332509	p.Asp27Asn	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541111C>T	gnomAD
rs968126661	p.Ala28Thr	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541108C>T	gnomAD
rs767571747	p.Thr29Ile	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541104G>A	ExAC,TOPMed,gnomAD
rs774651597	p.Ile31Met	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541097G>C	ExAC,TOPMed,gnomAD
rs140843241	p.Val32Met	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541096C>T	ESP,ExAC,TOPMed,gnomAD
rs1352006959	p.Phe38Leu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541078A>G	TOPMed
rs770516158	p.Thr41Ala	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540461T>C	ExAC,gnomAD
rs1412561472	p.Val44Met	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540452C>T	TOPMed,gnomAD
rs147291159	p.Arg45Cys	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540449G>A	ESP,ExAC,TOPMed,gnomAD
rs145569563	p.Arg45His	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540448C>T	ESP,ExAC,TOPMed,gnomAD
rs778786385	p.Glu48Asp	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540438C>A	ExAC,gnomAD
rs369222947	p.Asn50Ser	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540433T>C	ESP,ExAC,TOPMed,gnomAD
rs750977866	p.Asn50Lys	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540432G>C	gnomAD
rs749282221	p.Tyr52His	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540428A>G	ExAC,gnomAD
rs781097488	p.Asp57Glu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540411G>C	ExAC,TOPMed,gnomAD
rs764363872	p.Val58Gly	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540409A>C	ExAC,gnomAD
rs376422988	p.Val58Met	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540410C>T	ESP,ExAC,TOPMed,gnomAD
rs764363872	p.Val58Glu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540409A>T	ExAC,gnomAD
rs758623811	p.Gln59Pro	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540406T>G	ExAC,gnomAD
rs753001499	p.Thr63Ile	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540394G>A	ExAC,TOPMed,gnomAD
rs1270907226	p.Arg64Gln	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540391C>T	gnomAD
rs765654378	p.Arg64Trp	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540392G>A	ExAC,TOPMed,gnomAD
RCV000766185	p.Pro65Ser	missense variant	TURNPENNY-FRY SYNDROME (TPFS)	NC_000017.11:g.38739602G>A	ClinVar
RCV000758165	p.Pro65Leu	missense variant	-	NC_000017.11:g.38739601G>A	ClinVar
RCV000766184	p.Pro65Leu	missense variant	TURNPENNY-FRY SYNDROME (TPFS)	NC_000017.11:g.38739601G>A	ClinVar
VAR_082085	p.Pro65Leu	Missense	Turnpenny-Fry syndrome (TPFS) [MIM:618371]	-	UniProt
VAR_082086	p.Pro65Ser	Missense	Turnpenny-Fry syndrome (TPFS) [MIM:618371]	-	UniProt
rs1407101094	p.Leu66Gln	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540385A>T	TOPMed
rs765795827	p.Ser68Asn	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540379C>T	ExAC,gnomAD
rs760327885	p.Ile69Val	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540377T>C	ExAC,gnomAD
rs1461367779	p.Ser71Phe	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540038G>A	TOPMed
rs754174211	p.Lys73Arg	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540032T>C	ExAC,gnomAD
rs371103302	p.Lys73Glu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540033T>C	ESP,TOPMed
rs780591825	p.Leu82Phe	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540004C>A	ExAC,TOPMed,gnomAD
rs756653107	p.Asp89Asn	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539985C>T	ExAC,gnomAD
rs1195772306	p.Met91Val	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539900T>C	TOPMed,gnomAD
rs1259877550	p.Arg93Leu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539893C>A	gnomAD
rs768877758	p.Arg93Trp	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539894G>A	ExAC,gnomAD
rs780536842	p.Arg94Gln	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539890C>T	ExAC,gnomAD
rs749508532	p.Arg94Trp	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539891G>A	ExAC,gnomAD
rs200480241	p.Arg95Trp	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539888G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs746360625	p.Arg95Gln	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539887C>T	ExAC,TOPMed,gnomAD
rs757705562	p.Phe97Leu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539880G>C	ExAC,TOPMed,gnomAD
rs1412330889	p.Ala99Gly	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539875G>C	TOPMed
rs763533799	p.Ala100Val	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539872G>A	ExAC,gnomAD
rs1011253528	p.Tyr101Cys	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539869T>C	TOPMed
rs764992830	p.Pro102Ser	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539867G>A	ExAC,TOPMed,gnomAD
rs759394608	p.Thr104Met	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539860G>A	ExAC,TOPMed,gnomAD
rs771238828	p.Gly109Asp	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539639C>T	ExAC,TOPMed,gnomAD
rs771238828	p.Gly109Val	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539639C>A	ExAC,TOPMed,gnomAD
rs777012498	p.Gly109Arg	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539640C>G	ExAC,TOPMed,gnomAD
rs777012498	p.Gly109Ser	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539640C>T	ExAC,TOPMed,gnomAD
rs1163873738	p.Ser110Tyr	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539636G>T	gnomAD
rs201412419	p.Asn111Ile	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539633T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1320317505	p.Asn111Lys	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539632A>T	TOPMed
rs201412419	p.Asn111Ser	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539633T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1370117279	p.Asp113Glu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539626G>T	gnomAD
rs554363495	p.Arg114His	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539624C>T	1000Genomes,ExAC,gnomAD
rs778201270	p.Arg114Cys	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539625G>A	ExAC,TOPMed,gnomAD
rs554363495	p.Arg114Leu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539624C>A	1000Genomes,ExAC,gnomAD
rs778419447	p.Gly115Ser	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539622C>T	ExAC,gnomAD
rs754586944	p.Gly115Asp	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539621C>T	ExAC,gnomAD
rs779878626	p.Glu116Lys	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539619C>T	ExAC,TOPMed,gnomAD
rs958236122	p.Gln120Glu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539607G>C	TOPMed,gnomAD
rs1369036219	p.Lys122Asn	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539599C>G	gnomAD
rs1411468690	p.Ala124Val	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539594G>A	TOPMed
rs1034297638	p.Ala124Thr	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539595C>T	TOPMed,gnomAD
rs377546846	p.Ser126Asn	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539588C>T	ESP,ExAC,TOPMed,gnomAD
rs761851035	p.Asp128Glu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539581A>T	ExAC,gnomAD
rs752773081	p.Glu129Val	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539579T>A	ExAC,gnomAD
rs765435276	p.Ile130Thr	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539576A>G	ExAC,gnomAD
rs1251984310	p.Glu136Asp	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539557T>G	gnomAD
rs1296507529	p.Glu136Gly	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539558T>C	TOPMed
rs373487471	p.Glu136Lys	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539559C>T	1000Genomes,ESP,ExAC,gnomAD
rs201164684	p.Glu139Lys	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539550C>T	ESP,ExAC,TOPMed,gnomAD
rs1351561671	p.Gly140Asp	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539546C>T	gnomAD
rs772521169	p.Ala141Thr	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539544C>T	ExAC
rs1311059696	p.Arg142Ser	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539382C>A	TOPMed
rs1347323535	p.Asp143Val	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539380T>A	gnomAD
rs199504647	p.Arg144Gly	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539378G>C	ESP,ExAC,TOPMed,gnomAD
rs773410790	p.Arg144Leu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539377C>A	ExAC,TOPMed,gnomAD
rs199504647	p.Arg144Trp	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539378G>A	ESP,ExAC,TOPMed,gnomAD
rs773410790	p.Arg144Gln	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539377C>T	ExAC,TOPMed,gnomAD
rs1443579650	p.Asp145His	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539375C>G	TOPMed
rs1412816395	p.Glu146Lys	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539372C>T	gnomAD
rs774898974	p.Lys147Asn	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539367C>G	ExAC,gnomAD
rs1237441991	p.Lys147Gln	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539369T>G	TOPMed
rs1374779710	p.Lys147Thr	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539368T>G	gnomAD
rs1416945236	p.Gly149Arg	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539363C>G	gnomAD
rs1167009859	p.Pro150Ser	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539360G>A	gnomAD
rs748683854	p.Leu151Pro	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539356A>G	ExAC,gnomAD
rs775075296	p.Glu152Lys	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539354C>T	ExAC,TOPMed,gnomAD
rs142427824	p.Asp157Glu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539337G>T	ESP,ExAC,TOPMed,gnomAD
rs745485150	p.Gly162Arg	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539232C>G	ExAC,gnomAD
rs776481995	p.Val163Met	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539229C>T	ExAC,gnomAD
rs1027436811	p.Arg164His	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539225C>T	TOPMed,gnomAD
rs1378038012	p.Arg164Cys	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539226G>A	TOPMed
rs746734324	p.Arg167Gln	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539216C>T	ExAC,gnomAD
rs368479811	p.Arg167Ter	stop gained	-	CHR_HSCHR17_7_CTG4:g.38539217G>A	ESP,ExAC,TOPMed,gnomAD
rs777733534	p.Ala170Pro	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539208C>G	ExAC,gnomAD
rs748159640	p.Met172Ile	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539200C>G	ExAC,TOPMed,gnomAD
rs758229006	p.Met172Val	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539202T>C	ExAC,gnomAD
rs748159640	p.Met172Ile	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539200C>A	ExAC,TOPMed,gnomAD
rs748159640	p.Met172Ile	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539200C>T	ExAC,TOPMed,gnomAD
rs756277723	p.Val174Ile	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539196C>T	ExAC,TOPMed,gnomAD
rs750641343	p.His176Arg	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539189T>C	ExAC,gnomAD
rs750641343	p.His176Leu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539189T>A	ExAC,gnomAD
rs757487665	p.Lys179Thr	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539180T>G	ExAC,gnomAD
rs560971855	p.Arg182Cys	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539172G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs764470222	p.Arg182His	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539171C>T	ExAC,TOPMed,gnomAD
rs145409234	p.Asp186Glu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539158A>C	ESP,ExAC,TOPMed,gnomAD
rs1465655394	p.Glu194Lys	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536954C>T	gnomAD
rs773058381	p.Val195Phe	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536951C>A	ExAC,gnomAD
rs773058381	p.Val195Ile	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536951C>T	ExAC,gnomAD
rs568535028	p.Glu198Lys	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536942C>T	ExAC,TOPMed,gnomAD
rs768593615	p.Glu198Asp	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536940C>G	ExAC,gnomAD
rs774034080	p.Glu198Gly	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536941T>C	ExAC,gnomAD
rs200403711	p.Asp199Glu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536937G>C	ExAC,TOPMed,gnomAD
rs200403711	p.Asp199Glu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536937G>T	ExAC,TOPMed,gnomAD
rs749250708	p.Asp199Gly	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536938T>C	ExAC,gnomAD
rs747215640	p.Glu200Lys	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536936C>T	ExAC,TOPMed,gnomAD
rs1201949138	p.Pro201Ser	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536933G>A	TOPMed,gnomAD
rs1201949138	p.Pro201Ala	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536933G>C	TOPMed,gnomAD
rs1260959083	p.Thr207Ala	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536915T>C	TOPMed
rs1292047416	p.Met209Val	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536909T>C	TOPMed,gnomAD
rs1238145871	p.Ile211Val	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536903T>C	TOPMed
rs1446850294	p.Ala212Val	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536899G>A	TOPMed,gnomAD
rs1304683105	p.Ala212Thr	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536900C>T	gnomAD
rs1460622087	p.Ile214Val	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536894T>C	gnomAD
rs1171109186	p.Trp217Ter	stop gained	-	CHR_HSCHR17_7_CTG4:g.38536883C>T	gnomAD
rs774439646	p.Arg218Gln	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536881C>T	ExAC,TOPMed,gnomAD
rs753047733	p.Arg218Trp	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536882G>A	ExAC,gnomAD
rs755511901	p.Arg219Gln	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536878C>T	ExAC,gnomAD
rs1186813888	p.Arg219Trp	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536879G>A	gnomAD
rs755511901	p.Arg219Leu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536878C>A	ExAC,gnomAD
rs773177453	p.Asn220Ser	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536386T>C	ExAC,gnomAD
rs202151124	p.Asn220Tyr	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536387T>A	ESP,ExAC,TOPMed,gnomAD
rs748359148	p.Gly221Arg	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536384C>T	ExAC,TOPMed,gnomAD
rs1242535395	p.Pro224Leu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536374G>A	gnomAD
rs1322585642	p.Leu225Ile	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536372G>T	TOPMed,gnomAD
rs1322585642	p.Leu225Phe	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536372G>A	TOPMed,gnomAD
rs779314891	p.Tyr227Cys	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536365T>C	ExAC,TOPMed,gnomAD
rs779314891	p.Tyr227Phe	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536365T>A	ExAC,TOPMed,gnomAD
rs370844202	p.Arg228Gly	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536363G>C	ESP,ExAC,TOPMed,gnomAD
rs201691898	p.Arg228His	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536362C>T	1000Genomes,ExAC,gnomAD
rs370844202	p.Arg228Cys	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536363G>A	ESP,ExAC,TOPMed,gnomAD
rs1380321881	p.Gln230Ter	stop gained	-	CHR_HSCHR17_7_CTG4:g.38536357G>A	gnomAD
rs1452114686	p.Pro231Ser	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536354G>A	gnomAD
rs749903360	p.Ala232Gly	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536350G>C	ExAC,gnomAD
rs756899659	p.Cys233Tyr	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536347C>T	ExAC,TOPMed,gnomAD
rs535420083	p.Arg235Leu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536341C>A	ExAC,TOPMed,gnomAD
rs200143494	p.Arg235Trp	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536342G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs535420083	p.Arg235Gln	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536341C>T	ExAC,TOPMed,gnomAD
rs189346950	p.Leu236Phe	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536339G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs925022214	p.Thr237Ile	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536335G>A	TOPMed,gnomAD
rs368317834	p.Leu238Gln	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536332A>T	ESP,ExAC,TOPMed,gnomAD
rs540892196	p.Ala239Thr	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536330C>T	1000Genomes,ExAC,gnomAD
rs759490790	p.Thr240Met	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536326G>A	ExAC,TOPMed,gnomAD
rs372019431	p.Val241Met	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536324C>T	ExAC,TOPMed,gnomAD
rs748390616	p.Pro242Leu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536320G>A	ExAC,gnomAD
rs772093442	p.Pro242Ser	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536321G>A	ExAC
rs1401012738	p.Thr243Ser	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536318T>A	gnomAD
rs1172849279	p.Thr243Ile	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536317G>A	gnomAD
rs1379690664	p.Pro244Leu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536314G>A	gnomAD
rs1478818214	p.Pro244Ser	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536315G>A	gnomAD
rs991646402	p.Glu246Gln	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536309C>G	TOPMed,gnomAD
rs991646402	p.Glu246Lys	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536309C>T	TOPMed,gnomAD
rs769007309	p.Glu246Val	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536308T>A	ExAC
rs1489930211	p.Thr248Asn	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536302G>T	gnomAD
rs1218889139	p.Ser251Asn	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536293C>T	gnomAD
rs114574378	p.Gly252Trp	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536291C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs114574378	p.Gly252Arg	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536291C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1201204610	p.Ala253Thr	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536288C>T	gnomAD
rs1347439391	p.Ala253Val	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536287G>A	gnomAD
rs780727729	p.Glu255Lys	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536282C>T	ExAC,gnomAD
rs1280061078	p.Cys256Tyr	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536278C>T	gnomAD
rs1368701098	p.Glu257Val	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536275T>A	TOPMed
rs1445142388	p.Ser260Gly	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536267T>C	gnomAD
rs751218338	p.Asp261Asn	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536264C>T	ExAC,TOPMed,gnomAD
rs1168961421	p.Pro266Ser	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536249G>A	gnomAD
rs1228477563	p.Thr268Ile	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536242G>A	TOPMed
rs1196536292	p.Pro270Leu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536236G>A	gnomAD
rs1319854450	p.Ala271Thr	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536234C>T	TOPMed
rs752439412	p.Leu276Val	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536219G>C	ExAC,gnomAD
rs1265832095	p.Ser278Thr	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536212C>G	TOPMed
rs1256466420	p.Ser278Arg	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536211G>T	gnomAD
rs1293516092	p.Ser278Cys	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536213T>A	gnomAD
rs765047753	p.Ala280Val	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536206G>A	ExAC,gnomAD
rs759495717	p.Thr281Pro	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536204T>G	ExAC,TOPMed,gnomAD
rs1246419795	p.Thr281Asn	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536203G>T	TOPMed
rs953468425	p.Pro287Ala	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536186G>C	TOPMed,gnomAD
rs767632359	p.Pro287Leu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536185G>A	ExAC,gnomAD
rs761734103	p.Ser288Asn	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536182C>T	ExAC,TOPMed,gnomAD
rs761734103	p.Ser288Thr	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536182C>G	ExAC,TOPMed,gnomAD
rs1173316640	p.Ser289Phe	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536179G>A	TOPMed,gnomAD
rs774589549	p.His290Gln	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536175A>T	ExAC,gnomAD
rs1413723500	p.Pro292Ser	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536171G>A	gnomAD
rs768954307	p.Thr295Asn	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536161G>T	ExAC,TOPMed,gnomAD
rs1163898126	p.Thr295Ser	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536162T>A	gnomAD
rs1236556702	p.His296Tyr	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536159G>A	gnomAD
rs763301851	p.His296Gln	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536157G>T	ExAC,TOPMed,gnomAD
rs1003229373	p.Pro297Thr	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536156G>T	TOPMed,gnomAD
rs775970031	p.Thr298Ser	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536153T>A	ExAC,TOPMed,gnomAD
rs775970031	p.Thr298Ala	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536153T>C	ExAC,TOPMed,gnomAD
rs1376280131	p.Ser299Cys	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536149G>C	TOPMed
rs1219123976	p.Pro300Ala	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536147G>C	gnomAD
rs1450948881	p.Pro300Leu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536146G>A	TOPMed,gnomAD
rs1269726642	p.Thr301Pro	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536144T>G	TOPMed
rs746369251	p.Pro303Ser	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536138G>A	ExAC,TOPMed,gnomAD
rs746369251	p.Pro303Ala	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536138G>C	ExAC,TOPMed,gnomAD
rs1350932686	p.Pro303Leu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536137G>A	TOPMed,gnomAD
rs1307931350	p.Ser304Leu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536134G>A	TOPMed,gnomAD
rs1188153848	p.Thr305Pro	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536132T>G	TOPMed
rs1188153848	p.Thr305Ala	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536132T>C	TOPMed
rs1434836110	p.Ser307Arg	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536124A>C	gnomAD
rs781613328	p.Ser307Gly	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536126T>C	ExAC,gnomAD
rs1324828600	p.Gly308Glu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536122C>T	gnomAD
rs1349805834	p.Gly308Arg	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536123C>T	gnomAD
rs1378510208	p.Thr310Ala	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536117T>C	gnomAD
rs1440488481	p.Thr311Arg	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536113G>C	gnomAD
rs1440488481	p.Thr311Ile	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536113G>A	gnomAD
rs1189241824	p.Ala312Asp	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536110G>T	gnomAD
rs143182107	p.Ala313Asp	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536107G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143182107	p.Ala313Val	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536107G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1049689204	p.Gly315Glu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536101C>T	TOPMed,gnomAD
rs746445618	p.Gly315Arg	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536102C>T	ExAC,TOPMed,gnomAD
rs1049689204	p.Gly315Ala	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536101C>G	TOPMed,gnomAD
rs1049689204	p.Gly315Val	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536101C>A	TOPMed,gnomAD
rs372971271	p.Gly316Ser	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536099C>T	ESP,ExAC,TOPMed,gnomAD
rs1298823443	p.Ser317Cys	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536096T>A	gnomAD
rs752386425	p.Leu318Phe	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536091C>G	ExAC,TOPMed,gnomAD
rs752386425	p.Leu318Phe	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536091C>A	ExAC,TOPMed,gnomAD
rs1303419555	p.Ser325Phe	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536071G>A	TOPMed
rs1367282284	p.Ser326Pro	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536069A>G	gnomAD
rs1275843223	p.Ser326Phe	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536068G>A	gnomAD
rs778666838	p.Arg331His	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536053C>T	ExAC,TOPMed,gnomAD
rs1297640476	p.Lys332Glu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536051T>C	gnomAD
rs1174278285	p.Val335Ala	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536041A>G	gnomAD
rs1310575120	p.Val335Ile	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536042C>T	TOPMed
rs1201324546	p.Gly337Ser	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536036C>T	gnomAD
rs972720076	p.Ala338Thr	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536033C>T	TOPMed,gnomAD
rs760680898	p.Pro339Leu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536029G>A	ExAC,TOPMed,gnomAD
rs764305411	p.Val340Leu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536027C>A	ExAC,TOPMed,gnomAD
rs764305411	p.Val340Met	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536027C>T	ExAC,TOPMed,gnomAD
rs1208938665	p.Pro341Thr	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536024G>T	TOPMed,gnomAD
rs1208938665	p.Pro341Ser	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536024G>A	TOPMed,gnomAD
rs770193210	p.Pro342Arg	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536020G>C	ExAC,TOPMed,gnomAD
rs775916672	p.Pro342Thr	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536021G>T	ExAC,TOPMed,gnomAD
rs770193210	p.Pro342Leu	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536020G>A	ExAC,TOPMed,gnomAD
rs775916672	p.Pro342Ala	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536021G>C	ExAC,TOPMed,gnomAD
rs770193210	p.Pro342His	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536020G>T	ExAC,TOPMed,gnomAD
rs1400663223	p.Ter345Unk	stop lost	-	CHR_HSCHR17_7_CTG4:g.38536011del	gnomAD
rs1164566149	p.His2Pro	missense variant	-	NC_000017.11:g.38740398T>G	TOPMed,gnomAD
rs774706646	p.Arg3Leu	missense variant	-	NC_000017.11:g.38740395C>A	ExAC,TOPMed,gnomAD
rs774706646	p.Arg3Gln	missense variant	-	NC_000017.11:g.38740395C>T	ExAC,TOPMed,gnomAD
rs749819496	p.Arg6Gly	missense variant	-	NC_000017.11:g.38740387G>C	ExAC,gnomAD
rs779496705	p.Arg6Gln	missense variant	-	NC_000017.11:g.38740386C>T	ExAC,gnomAD
rs749819496	p.Arg6Trp	missense variant	-	NC_000017.11:g.38740387G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ile9Leu	missense variant	-	NC_000017.11:g.38740378T>G	NCI-TCGA
rs1251160108	p.Thr10Arg	missense variant	-	NC_000017.11:g.38740374G>C	gnomAD
rs780765988	p.Pro14Thr	missense variant	-	NC_000017.11:g.38740363G>T	ExAC,gnomAD
rs757069949	p.Leu16Phe	missense variant	-	NC_000017.11:g.38740357G>A	ExAC,gnomAD
rs757069949	p.Leu16Ile	missense variant	-	NC_000017.11:g.38740357G>T	ExAC,gnomAD
rs751245494	p.Met17Ile	missense variant	-	NC_000017.11:g.38740352C>T	ExAC,TOPMed,gnomAD
rs777722903	p.Ala19Pro	missense variant	-	NC_000017.11:g.38740348C>G	ExAC,gnomAD
rs1335630874	p.Leu20Ile	missense variant	-	NC_000017.11:g.38740345G>T	gnomAD
rs752723799	p.Gly22Trp	missense variant	-	NC_000017.11:g.38740339C>A	ExAC,TOPMed,gnomAD
rs752723799	p.Gly22Arg	missense variant	-	NC_000017.11:g.38740339C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly22Glu	missense variant	-	NC_000017.11:g.38740338C>T	NCI-TCGA
rs1388718872	p.Gly23Glu	missense variant	-	NC_000017.11:g.38740335C>T	gnomAD
NCI-TCGA novel	p.Tyr24ThrPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.38740334C>-	NCI-TCGA
NCI-TCGA novel	p.Tyr24ValPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.38740333_38740334insC	NCI-TCGA
rs1420332509	p.Asp27Asn	missense variant	-	NC_000017.11:g.38740324C>T	gnomAD
rs968126661	p.Ala28Thr	missense variant	-	NC_000017.11:g.38740321C>T	gnomAD
rs767571747	p.Thr29Ile	missense variant	-	NC_000017.11:g.38740317G>A	ExAC,TOPMed,gnomAD
rs774651597	p.Ile31Met	missense variant	-	NC_000017.11:g.38740310G>C	ExAC,TOPMed,gnomAD
rs140843241	p.Val32Met	missense variant	-	NC_000017.11:g.38740309C>T	ESP,ExAC,TOPMed,gnomAD
rs1352006959	p.Phe38Leu	missense variant	-	NC_000017.11:g.38740291A>G	TOPMed
rs770516158	p.Thr41Ala	missense variant	-	NC_000017.11:g.38739674T>C	ExAC,gnomAD
rs1412561472	p.Val44Met	missense variant	-	NC_000017.11:g.38739665C>T	TOPMed,gnomAD
rs147291159	p.Arg45Cys	missense variant	-	NC_000017.11:g.38739662G>A	ESP,ExAC,TOPMed,gnomAD
rs145569563	p.Arg45His	missense variant	-	NC_000017.11:g.38739661C>T	ESP,ExAC,TOPMed,gnomAD
rs778786385	p.Glu48Asp	missense variant	-	NC_000017.11:g.38739651C>A	ExAC,gnomAD
rs750977866	p.Asn50Lys	missense variant	-	NC_000017.11:g.38739645G>C	gnomAD
rs369222947	p.Asn50Ser	missense variant	-	NC_000017.11:g.38739646T>C	ESP,ExAC,TOPMed,gnomAD
rs749282221	p.Tyr52His	missense variant	-	NC_000017.11:g.38739641A>G	ExAC,gnomAD
rs781097488	p.Asp57Glu	missense variant	-	NC_000017.11:g.38739624G>C	ExAC,TOPMed,gnomAD
rs376422988	p.Val58Met	missense variant	-	NC_000017.11:g.38739623C>T	ESP,ExAC,TOPMed,gnomAD
rs764363872	p.Val58Glu	missense variant	-	NC_000017.11:g.38739622A>T	ExAC,gnomAD
rs764363872	p.Val58Gly	missense variant	-	NC_000017.11:g.38739622A>C	ExAC,gnomAD
rs758623811	p.Gln59Pro	missense variant	-	NC_000017.11:g.38739619T>G	ExAC,gnomAD
rs753001499	p.Thr63Ile	missense variant	-	NC_000017.11:g.38739607G>A	ExAC,TOPMed,gnomAD
rs1270907226	p.Arg64Gln	missense variant	-	NC_000017.11:g.38739604C>T	gnomAD
rs765654378	p.Arg64Trp	missense variant	-	NC_000017.11:g.38739605G>A	ExAC,TOPMed,gnomAD
rs1407101094	p.Leu66Gln	missense variant	-	NC_000017.11:g.38739598A>T	TOPMed
rs765795827	p.Ser68Asn	missense variant	-	NC_000017.11:g.38739592C>T	ExAC,gnomAD
rs760327885	p.Ile69Val	missense variant	-	NC_000017.11:g.38739590T>C	ExAC,gnomAD
rs1461367779	p.Ser71Phe	missense variant	-	NC_000017.11:g.38739251G>A	TOPMed
rs371103302	p.Lys73Glu	missense variant	-	NC_000017.11:g.38739246T>C	ESP,TOPMed
rs754174211	p.Lys73Arg	missense variant	-	NC_000017.11:g.38739245T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln76HisPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.38739231_38739235TGTCT>-	NCI-TCGA
rs780591825	p.Leu82Phe	missense variant	-	NC_000017.11:g.38739217C>A	ExAC,TOPMed,gnomAD
rs756653107	p.Asp89Asn	missense variant	-	NC_000017.11:g.38739198C>T	ExAC,gnomAD
rs1195772306	p.Met91Val	missense variant	-	NC_000017.11:g.38739113T>C	TOPMed,gnomAD
rs1259877550	p.Arg93Leu	missense variant	-	NC_000017.11:g.38739106C>A	gnomAD
NCI-TCGA novel	p.Arg93Gln	missense variant	-	NC_000017.11:g.38739106C>T	NCI-TCGA
rs768877758	p.Arg93Trp	missense variant	-	NC_000017.11:g.38739107G>A	ExAC,gnomAD
rs780536842	p.Arg94Gln	missense variant	-	NC_000017.11:g.38739103C>T	ExAC,gnomAD
rs749508532	p.Arg94Trp	missense variant	-	NC_000017.11:g.38739104G>A	ExAC,gnomAD
rs200480241	p.Arg95Trp	missense variant	-	NC_000017.11:g.38739101G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs746360625	p.Arg95Gln	missense variant	-	NC_000017.11:g.38739100C>T	ExAC,TOPMed,gnomAD
rs757705562	p.Phe97Leu	missense variant	-	NC_000017.11:g.38739093G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe97Leu	missense variant	-	NC_000017.11:g.38739093G>T	NCI-TCGA
rs1412330889	p.Ala99Gly	missense variant	-	NC_000017.11:g.38739088G>C	TOPMed
rs763533799	p.Ala100Val	missense variant	-	NC_000017.11:g.38739085G>A	ExAC,gnomAD
rs1011253528	p.Tyr101Cys	missense variant	-	NC_000017.11:g.38739082T>C	TOPMed
rs764992830	p.Pro102Ser	missense variant	-	NC_000017.11:g.38739080G>A	ExAC,TOPMed,gnomAD
rs759394608	p.Thr104Met	missense variant	-	NC_000017.11:g.38739073G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro107Leu	missense variant	-	NC_000017.11:g.38738858G>A	NCI-TCGA
rs777012498	p.Gly109Ser	missense variant	-	NC_000017.11:g.38738853C>T	ExAC,TOPMed,gnomAD
rs777012498	p.Gly109Arg	missense variant	-	NC_000017.11:g.38738853C>G	ExAC,TOPMed,gnomAD
rs771238828	p.Gly109Val	missense variant	-	NC_000017.11:g.38738852C>A	ExAC,TOPMed,gnomAD
rs771238828	p.Gly109Asp	missense variant	-	NC_000017.11:g.38738852C>T	ExAC,TOPMed,gnomAD
rs1163873738	p.Ser110Tyr	missense variant	-	NC_000017.11:g.38738849G>T	gnomAD
NCI-TCGA novel	p.Ser110GlyPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.38738843_38738850TCATTGGA>-	NCI-TCGA
rs1320317505	p.Asn111Lys	missense variant	-	NC_000017.11:g.38738845A>T	TOPMed
rs201412419	p.Asn111Ile	missense variant	-	NC_000017.11:g.38738846T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201412419	p.Asn111Ser	missense variant	-	NC_000017.11:g.38738846T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1370117279	p.Asp113Glu	missense variant	-	NC_000017.11:g.38738839G>T	gnomAD
NCI-TCGA novel	p.Asp113Gly	missense variant	-	NC_000017.11:g.38738840T>C	NCI-TCGA
rs554363495	p.Arg114His	missense variant	-	NC_000017.11:g.38738837C>T	1000Genomes,ExAC,gnomAD
rs778201270	p.Arg114Cys	missense variant	-	NC_000017.11:g.38738838G>A	ExAC,TOPMed,gnomAD
rs554363495	p.Arg114Leu	missense variant	-	NC_000017.11:g.38738837C>A	1000Genomes,ExAC,gnomAD
rs778419447	p.Gly115Ser	missense variant	-	NC_000017.11:g.38738835C>T	ExAC,gnomAD
rs754586944	p.Gly115Asp	missense variant	-	NC_000017.11:g.38738834C>T	ExAC,gnomAD
rs779878626	p.Glu116Lys	missense variant	-	NC_000017.11:g.38738832C>T	ExAC,TOPMed,gnomAD
rs958236122	p.Gln120Glu	missense variant	-	NC_000017.11:g.38738820G>C	TOPMed,gnomAD
rs1369036219	p.Lys122Asn	missense variant	-	NC_000017.11:g.38738812C>G	gnomAD
rs1034297638	p.Ala124Thr	missense variant	-	NC_000017.11:g.38738808C>T	TOPMed,gnomAD
rs1411468690	p.Ala124Val	missense variant	-	NC_000017.11:g.38738807G>A	TOPMed
rs377546846	p.Ser126Asn	missense variant	-	NC_000017.11:g.38738801C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp127Asn	missense variant	-	NC_000017.11:g.38738799C>T	NCI-TCGA
rs761851035	p.Asp128Glu	missense variant	-	NC_000017.11:g.38738794A>T	ExAC,gnomAD
rs752773081	p.Glu129Val	missense variant	-	NC_000017.11:g.38738792T>A	ExAC,gnomAD
rs765435276	p.Ile130Thr	missense variant	-	NC_000017.11:g.38738789A>G	ExAC,gnomAD
rs373487471	p.Glu136Lys	missense variant	-	NC_000017.11:g.38738772C>T	1000Genomes,ESP,ExAC,gnomAD
rs1296507529	p.Glu136Gly	missense variant	-	NC_000017.11:g.38738771T>C	TOPMed
rs1251984310	p.Glu136Asp	missense variant	-	NC_000017.11:g.38738770T>G	gnomAD
rs201164684	p.Glu139Lys	missense variant	-	NC_000017.11:g.38738763C>T	ESP,ExAC,TOPMed,gnomAD
rs1351561671	p.Gly140Asp	missense variant	-	NC_000017.11:g.38738759C>T	gnomAD
rs772521169	p.Ala141Thr	missense variant	-	NC_000017.11:g.38738757C>T	ExAC
rs1311059696	p.Arg142Ser	missense variant	-	NC_000017.11:g.38738595C>A	TOPMed
rs1347323535	p.Asp143Val	missense variant	-	NC_000017.11:g.38738593T>A	gnomAD
rs199504647	p.Arg144Trp	missense variant	-	NC_000017.11:g.38738591G>A	ESP,ExAC,TOPMed,gnomAD
rs773410790	p.Arg144Gln	missense variant	-	NC_000017.11:g.38738590C>T	ExAC,TOPMed,gnomAD
rs773410790	p.Arg144Leu	missense variant	-	NC_000017.11:g.38738590C>A	ExAC,TOPMed,gnomAD
rs199504647	p.Arg144Gly	missense variant	-	NC_000017.11:g.38738591G>C	ESP,ExAC,TOPMed,gnomAD
rs1443579650	p.Asp145His	missense variant	-	NC_000017.11:g.38738588C>G	TOPMed
rs1412816395	p.Glu146Lys	missense variant	-	NC_000017.11:g.38738585C>T	gnomAD
NCI-TCGA novel	p.Glu146Gln	missense variant	-	NC_000017.11:g.38738585C>G	NCI-TCGA
rs774898974	p.Lys147Asn	missense variant	-	NC_000017.11:g.38738580C>G	ExAC,gnomAD
rs1374779710	p.Lys147Thr	missense variant	-	NC_000017.11:g.38738581T>G	gnomAD
rs1237441991	p.Lys147Gln	missense variant	-	NC_000017.11:g.38738582T>G	TOPMed
rs1416945236	p.Gly149Arg	missense variant	-	NC_000017.11:g.38738576C>G	gnomAD
rs1167009859	p.Pro150Ser	missense variant	-	NC_000017.11:g.38738573G>A	gnomAD
rs748683854	p.Leu151Pro	missense variant	-	NC_000017.11:g.38738569A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu151TrpPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.38738570G>-	NCI-TCGA
rs775075296	p.Glu152Lys	missense variant	-	NC_000017.11:g.38738567C>T	ExAC,TOPMed,gnomAD
rs142427824	p.Asp157Glu	missense variant	-	NC_000017.11:g.38738550G>T	ESP,ExAC,TOPMed,gnomAD
rs745485150	p.Gly162Arg	missense variant	-	NC_000017.11:g.38738445C>G	ExAC,gnomAD
rs776481995	p.Val163Met	missense variant	-	NC_000017.11:g.38738442C>T	ExAC,gnomAD
rs1378038012	p.Arg164Cys	missense variant	-	NC_000017.11:g.38738439G>A	TOPMed
rs1027436811	p.Arg164His	missense variant	-	NC_000017.11:g.38738438C>T	TOPMed,gnomAD
rs368479811	p.Arg167Ter	stop gained	-	NC_000017.11:g.38738430G>A	ESP,ExAC,TOPMed,gnomAD
rs746734324	p.Arg167Gln	missense variant	-	NC_000017.11:g.38738429C>T	ExAC,gnomAD
rs777733534	p.Ala170Pro	missense variant	-	NC_000017.11:g.38738421C>G	ExAC,gnomAD
rs748159640	p.Met172Ile	missense variant	-	NC_000017.11:g.38738413C>A	ExAC,TOPMed,gnomAD
rs748159640	p.Met172Ile	missense variant	-	NC_000017.11:g.38738413C>G	ExAC,TOPMed,gnomAD
rs758229006	p.Met172Val	missense variant	-	NC_000017.11:g.38738415T>C	ExAC,gnomAD
rs748159640	p.Met172Ile	missense variant	-	NC_000017.11:g.38738413C>T	ExAC,TOPMed,gnomAD
rs756277723	p.Val174Ile	missense variant	-	NC_000017.11:g.38738409C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His176Tyr	missense variant	-	NC_000017.11:g.38738403G>A	NCI-TCGA
rs750641343	p.His176Leu	missense variant	-	NC_000017.11:g.38738402T>A	ExAC,gnomAD
rs750641343	p.His176Arg	missense variant	-	NC_000017.11:g.38738402T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala178Gly	missense variant	-	NC_000017.11:g.38738396G>C	NCI-TCGA
rs757487665	p.Lys179Thr	missense variant	-	NC_000017.11:g.38738393T>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu181Phe	missense variant	-	NC_000017.11:g.38738388G>A	NCI-TCGA
rs560971855	p.Arg182Cys	missense variant	-	NC_000017.11:g.38738385G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs764470222	p.Arg182His	missense variant	-	NC_000017.11:g.38738384C>T	ExAC,TOPMed,gnomAD
rs145409234	p.Asp186Glu	missense variant	-	NC_000017.11:g.38738371A>C	ESP,ExAC,TOPMed,gnomAD
rs1465655394	p.Glu194Lys	missense variant	-	NC_000017.11:g.38736167C>T	gnomAD
rs773058381	p.Val195Ile	missense variant	-	NC_000017.11:g.38736164C>T	ExAC,gnomAD
rs773058381	p.Val195Phe	missense variant	-	NC_000017.11:g.38736164C>A	ExAC,gnomAD
rs774034080	p.Glu198Gly	missense variant	-	NC_000017.11:g.38736154T>C	ExAC,gnomAD
rs568535028	p.Glu198Lys	missense variant	-	NC_000017.11:g.38736155C>T	ExAC,TOPMed,gnomAD
rs768593615	p.Glu198Asp	missense variant	-	NC_000017.11:g.38736153C>G	ExAC,gnomAD
rs200403711	p.Asp199Glu	missense variant	-	NC_000017.11:g.38736150G>C	ExAC,TOPMed,gnomAD
rs200403711	p.Asp199Glu	missense variant	-	NC_000017.11:g.38736150G>T	ExAC,TOPMed,gnomAD
rs749250708	p.Asp199Gly	missense variant	-	NC_000017.11:g.38736151T>C	ExAC,gnomAD
rs747215640	p.Glu200Lys	missense variant	-	NC_000017.11:g.38736149C>T	ExAC,TOPMed,gnomAD
rs1201949138	p.Pro201Ala	missense variant	-	NC_000017.11:g.38736146G>C	TOPMed,gnomAD
rs1201949138	p.Pro201Ser	missense variant	-	NC_000017.11:g.38736146G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Lys203Asn	missense variant	-	NC_000017.11:g.38736138C>A	NCI-TCGA
NCI-TCGA novel	p.Glu204Lys	missense variant	-	NC_000017.11:g.38736137C>T	NCI-TCGA
rs1260959083	p.Thr207Ala	missense variant	-	NC_000017.11:g.38736128T>C	TOPMed
rs1292047416	p.Met209Val	missense variant	-	NC_000017.11:g.38736122T>C	TOPMed,gnomAD
rs1238145871	p.Ile211Val	missense variant	-	NC_000017.11:g.38736116T>C	TOPMed
rs1304683105	p.Ala212Thr	missense variant	-	NC_000017.11:g.38736113C>T	gnomAD
rs1446850294	p.Ala212Val	missense variant	-	NC_000017.11:g.38736112G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Tyr213Asn	missense variant	-	NC_000017.11:g.38736110A>T	NCI-TCGA
rs1460622087	p.Ile214Val	missense variant	-	NC_000017.11:g.38736107T>C	gnomAD
NCI-TCGA novel	p.Tyr215Phe	missense variant	-	NC_000017.11:g.38736103T>A	NCI-TCGA
NCI-TCGA novel	p.Tyr215ThrPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.38736105G>-	NCI-TCGA
rs1171109186	p.Trp217Ter	stop gained	-	NC_000017.11:g.38736096C>T	gnomAD
NCI-TCGA novel	p.Trp217MetPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.38736098_38736099insT	NCI-TCGA
rs753047733	p.Arg218Trp	missense variant	-	NC_000017.11:g.38736095G>A	ExAC,gnomAD
rs774439646	p.Arg218Gln	missense variant	-	NC_000017.11:g.38736094C>T	ExAC,TOPMed,gnomAD
rs1186813888	p.Arg219Trp	missense variant	-	NC_000017.11:g.38736092G>A	gnomAD
rs755511901	p.Arg219Leu	missense variant	-	NC_000017.11:g.38736091C>A	ExAC,gnomAD
rs755511901	p.Arg219Gln	missense variant	-	NC_000017.11:g.38736091C>T	ExAC,gnomAD
rs202151124	p.Asn220Tyr	missense variant	-	NC_000017.11:g.38735600T>A	ESP,ExAC,TOPMed,gnomAD
rs773177453	p.Asn220Ser	missense variant	-	NC_000017.11:g.38735599T>C	ExAC,gnomAD
rs748359148	p.Gly221Arg	missense variant	-	NC_000017.11:g.38735597C>T	ExAC,TOPMed,gnomAD
rs1242535395	p.Pro224Leu	missense variant	-	NC_000017.11:g.38735587G>A	gnomAD
rs1322585642	p.Leu225Phe	missense variant	-	NC_000017.11:g.38735585G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Leu225SerPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.38735585G>-	NCI-TCGA
rs1322585642	p.Leu225Ile	missense variant	-	NC_000017.11:g.38735585G>T	TOPMed,gnomAD
rs779314891	p.Tyr227Phe	missense variant	-	NC_000017.11:g.38735578T>A	ExAC,TOPMed,gnomAD
rs779314891	p.Tyr227Cys	missense variant	-	NC_000017.11:g.38735578T>C	ExAC,TOPMed,gnomAD
rs370844202	p.Arg228Cys	missense variant	-	NC_000017.11:g.38735576G>A	ESP,ExAC,TOPMed,gnomAD
rs201691898	p.Arg228His	missense variant	-	NC_000017.11:g.38735575C>T	1000Genomes,ExAC,gnomAD
rs370844202	p.Arg228Gly	missense variant	-	NC_000017.11:g.38735576G>C	ESP,ExAC,TOPMed,gnomAD
rs1380321881	p.Gln230Ter	stop gained	-	NC_000017.11:g.38735570G>A	gnomAD
rs1452114686	p.Pro231Ser	missense variant	-	NC_000017.11:g.38735567G>A	gnomAD
rs749903360	p.Ala232Gly	missense variant	-	NC_000017.11:g.38735563G>C	ExAC,gnomAD
rs756899659	p.Cys233Tyr	missense variant	-	NC_000017.11:g.38735560C>T	ExAC,TOPMed,gnomAD
rs535420083	p.Arg235Gln	missense variant	-	NC_000017.11:g.38735554C>T	ExAC,TOPMed,gnomAD
rs535420083	p.Arg235Leu	missense variant	-	NC_000017.11:g.38735554C>A	ExAC,TOPMed,gnomAD
rs200143494	p.Arg235Trp	missense variant	-	NC_000017.11:g.38735555G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs189346950	p.Leu236Phe	missense variant	-	NC_000017.11:g.38735552G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs925022214	p.Thr237Ile	missense variant	-	NC_000017.11:g.38735548G>A	TOPMed,gnomAD
rs368317834	p.Leu238Gln	missense variant	-	NC_000017.11:g.38735545A>T	ESP,ExAC,TOPMed,gnomAD
rs540892196	p.Ala239Thr	missense variant	-	NC_000017.11:g.38735543C>T	1000Genomes,ExAC,gnomAD
rs759490790	p.Thr240Met	missense variant	-	NC_000017.11:g.38735539G>A	ExAC,TOPMed,gnomAD
rs372019431	p.Val241Met	missense variant	-	NC_000017.11:g.38735537C>T	ExAC,TOPMed,gnomAD
rs748390616	p.Pro242Leu	missense variant	-	NC_000017.11:g.38735533G>A	ExAC,gnomAD
rs772093442	p.Pro242Ser	missense variant	-	NC_000017.11:g.38735534G>A	ExAC
rs1172849279	p.Thr243Ile	missense variant	-	NC_000017.11:g.38735530G>A	gnomAD
rs1401012738	p.Thr243Ser	missense variant	-	NC_000017.11:g.38735531T>A	gnomAD
rs1379690664	p.Pro244Leu	missense variant	-	NC_000017.11:g.38735527G>A	gnomAD
rs1478818214	p.Pro244Ser	missense variant	-	NC_000017.11:g.38735528G>A	gnomAD
rs991646402	p.Glu246Lys	missense variant	-	NC_000017.11:g.38735522C>T	TOPMed,gnomAD
rs769007309	p.Glu246Val	missense variant	-	NC_000017.11:g.38735521T>A	ExAC
rs991646402	p.Glu246Gln	missense variant	-	NC_000017.11:g.38735522C>G	TOPMed,gnomAD
rs1489930211	p.Thr248Asn	missense variant	-	NC_000017.11:g.38735515G>T	gnomAD
rs1218889139	p.Ser251Asn	missense variant	-	NC_000017.11:g.38735506C>T	gnomAD
rs114574378	p.Gly252Arg	missense variant	-	NC_000017.11:g.38735504C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs114574378	p.Gly252Trp	missense variant	-	NC_000017.11:g.38735504C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1201204610	p.Ala253Thr	missense variant	-	NC_000017.11:g.38735501C>T	gnomAD
rs1347439391	p.Ala253Val	missense variant	-	NC_000017.11:g.38735500G>A	gnomAD
rs780727729	p.Glu255Lys	missense variant	-	NC_000017.11:g.38735495C>T	ExAC,gnomAD
rs1280061078	p.Cys256Tyr	missense variant	-	NC_000017.11:g.38735491C>T	gnomAD
rs1368701098	p.Glu257Val	missense variant	-	NC_000017.11:g.38735488T>A	TOPMed
NCI-TCGA novel	p.Glu257Gly	missense variant	-	NC_000017.11:g.38735488T>C	NCI-TCGA
NCI-TCGA novel	p.Val259LeuPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.38735463_38735484GCTGGGAGCCTTGTCGCTGACT>-	NCI-TCGA
rs1445142388	p.Ser260Gly	missense variant	-	NC_000017.11:g.38735480T>C	gnomAD
rs751218338	p.Asp261Asn	missense variant	-	NC_000017.11:g.38735477C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro264Ser	missense variant	-	NC_000017.11:g.38735468G>A	NCI-TCGA
rs1168961421	p.Pro266Ser	missense variant	-	NC_000017.11:g.38735462G>A	gnomAD
rs1228477563	p.Thr268Ile	missense variant	-	NC_000017.11:g.38735455G>A	TOPMed
rs1196536292	p.Pro270Leu	missense variant	-	NC_000017.11:g.38735449G>A	gnomAD
rs1319854450	p.Ala271Thr	missense variant	-	NC_000017.11:g.38735447C>T	TOPMed
NCI-TCGA novel	p.Ala271Pro	missense variant	-	NC_000017.11:g.38735447C>G	NCI-TCGA
NCI-TCGA novel	p.Ala271Val	missense variant	-	NC_000017.11:g.38735446G>A	NCI-TCGA
rs752439412	p.Leu276Val	missense variant	-	NC_000017.11:g.38735432G>C	ExAC,gnomAD
rs1256466420	p.Ser278Arg	missense variant	-	NC_000017.11:g.38735424G>T	gnomAD
NCI-TCGA novel	p.Ser278Asn	missense variant	-	NC_000017.11:g.38735425C>T	NCI-TCGA
rs1293516092	p.Ser278Cys	missense variant	-	NC_000017.11:g.38735426T>A	gnomAD
rs1265832095	p.Ser278Thr	missense variant	-	NC_000017.11:g.38735425C>G	TOPMed
NCI-TCGA novel	p.Pro279HisPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.38735418_38735422GGCTG>-	NCI-TCGA
rs765047753	p.Ala280Val	missense variant	-	NC_000017.11:g.38735419G>A	ExAC,gnomAD
rs1246419795	p.Thr281Asn	missense variant	-	NC_000017.11:g.38735416G>T	TOPMed
rs759495717	p.Thr281Pro	missense variant	-	NC_000017.11:g.38735417T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser286Tyr	missense variant	-	NC_000017.11:g.38735401G>T	NCI-TCGA
rs953468425	p.Pro287Ala	missense variant	-	NC_000017.11:g.38735399G>C	TOPMed,gnomAD
rs767632359	p.Pro287Leu	missense variant	-	NC_000017.11:g.38735398G>A	ExAC,gnomAD
rs761734103	p.Ser288Thr	missense variant	-	NC_000017.11:g.38735395C>G	ExAC,TOPMed,gnomAD
rs761734103	p.Ser288Asn	missense variant	-	NC_000017.11:g.38735395C>T	ExAC,TOPMed,gnomAD
rs1173316640	p.Ser289Phe	missense variant	-	NC_000017.11:g.38735392G>A	TOPMed,gnomAD
rs774589549	p.His290Gln	missense variant	-	NC_000017.11:g.38735388A>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly291Arg	missense variant	-	NC_000017.11:g.38735387C>T	NCI-TCGA
rs1413723500	p.Pro292Ser	missense variant	-	NC_000017.11:g.38735384G>A	gnomAD
rs1163898126	p.Thr295Ser	missense variant	-	NC_000017.11:g.38735375T>A	gnomAD
rs768954307	p.Thr295Asn	missense variant	-	NC_000017.11:g.38735374G>T	ExAC,TOPMed,gnomAD
rs1236556702	p.His296Tyr	missense variant	-	NC_000017.11:g.38735372G>A	gnomAD
rs763301851	p.His296Gln	missense variant	-	NC_000017.11:g.38735370G>T	ExAC,TOPMed,gnomAD
rs1003229373	p.Pro297Thr	missense variant	-	NC_000017.11:g.38735369G>T	TOPMed,gnomAD
rs775970031	p.Thr298Ala	missense variant	-	NC_000017.11:g.38735366T>C	ExAC,TOPMed,gnomAD
rs775970031	p.Thr298Ser	missense variant	-	NC_000017.11:g.38735366T>A	ExAC,TOPMed,gnomAD
rs1376280131	p.Ser299Cys	missense variant	-	NC_000017.11:g.38735362G>C	TOPMed
rs1219123976	p.Pro300Ala	missense variant	-	NC_000017.11:g.38735360G>C	gnomAD
rs1450948881	p.Pro300Leu	missense variant	-	NC_000017.11:g.38735359G>A	TOPMed,gnomAD
rs1269726642	p.Thr301Pro	missense variant	-	NC_000017.11:g.38735357T>G	TOPMed
rs746369251	p.Pro303Ala	missense variant	-	NC_000017.11:g.38735351G>C	ExAC,TOPMed,gnomAD
rs1350932686	p.Pro303Leu	missense variant	-	NC_000017.11:g.38735350G>A	TOPMed,gnomAD
rs746369251	p.Pro303Ser	missense variant	-	NC_000017.11:g.38735351G>A	ExAC,TOPMed,gnomAD
rs1307931350	p.Ser304Leu	missense variant	-	NC_000017.11:g.38735347G>A	TOPMed,gnomAD
rs1188153848	p.Thr305Ala	missense variant	-	NC_000017.11:g.38735345T>C	TOPMed
rs1188153848	p.Thr305Pro	missense variant	-	NC_000017.11:g.38735345T>G	TOPMed
rs781613328	p.Ser307Gly	missense variant	-	NC_000017.11:g.38735339T>C	ExAC,gnomAD
rs1434836110	p.Ser307Arg	missense variant	-	NC_000017.11:g.38735337A>C	gnomAD
rs1349805834	p.Gly308Arg	missense variant	-	NC_000017.11:g.38735336C>T	gnomAD
rs1324828600	p.Gly308Glu	missense variant	-	NC_000017.11:g.38735335C>T	gnomAD
rs1378510208	p.Thr310Ala	missense variant	-	NC_000017.11:g.38735330T>C	gnomAD
rs1440488481	p.Thr311Arg	missense variant	-	NC_000017.11:g.38735326G>C	gnomAD
rs1440488481	p.Thr311Ile	missense variant	-	NC_000017.11:g.38735326G>A	gnomAD
rs1189241824	p.Ala312Asp	missense variant	-	NC_000017.11:g.38735323G>T	gnomAD
rs143182107	p.Ala313Val	missense variant	-	NC_000017.11:g.38735320G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143182107	p.Ala313Asp	missense variant	-	NC_000017.11:g.38735320G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1049689204	p.Gly315Ala	missense variant	-	NC_000017.11:g.38735314C>G	TOPMed,gnomAD
rs1049689204	p.Gly315Glu	missense variant	-	NC_000017.11:g.38735314C>T	TOPMed,gnomAD
rs1049689204	p.Gly315Val	missense variant	-	NC_000017.11:g.38735314C>A	TOPMed,gnomAD
rs746445618	p.Gly315Arg	missense variant	-	NC_000017.11:g.38735315C>T	ExAC,TOPMed,gnomAD
rs372971271	p.Gly316Ser	missense variant	-	NC_000017.11:g.38735312C>T	ESP,ExAC,TOPMed,gnomAD
rs1298823443	p.Ser317Cys	missense variant	-	NC_000017.11:g.38735309T>A	gnomAD
rs752386425	p.Leu318Phe	missense variant	-	NC_000017.11:g.38735304C>G	ExAC,TOPMed,gnomAD
rs752386425	p.Leu318Phe	missense variant	-	NC_000017.11:g.38735304C>A	ExAC,TOPMed,gnomAD
rs1303419555	p.Ser325Phe	missense variant	-	NC_000017.11:g.38735284G>A	TOPMed
rs1367282284	p.Ser326Pro	missense variant	-	NC_000017.11:g.38735282A>G	gnomAD
rs1275843223	p.Ser326Phe	missense variant	-	NC_000017.11:g.38735281G>A	gnomAD
rs778666838	p.Arg331His	missense variant	-	NC_000017.11:g.38735266C>T	ExAC,TOPMed,gnomAD
rs1297640476	p.Lys332Glu	missense variant	-	NC_000017.11:g.38735264T>C	gnomAD
NCI-TCGA novel	p.Lys332Asn	missense variant	-	NC_000017.11:g.38735262C>A	NCI-TCGA
rs1174278285	p.Val335Ala	missense variant	-	NC_000017.11:g.38735254A>G	gnomAD
rs1310575120	p.Val335Ile	missense variant	-	NC_000017.11:g.38735255C>T	TOPMed
rs1201324546	p.Gly337Ser	missense variant	-	NC_000017.11:g.38735249C>T	gnomAD
rs972720076	p.Ala338Thr	missense variant	-	NC_000017.11:g.38735246C>T	TOPMed,gnomAD
rs760680898	p.Pro339Leu	missense variant	-	NC_000017.11:g.38735242G>A	ExAC,TOPMed,gnomAD
rs764305411	p.Val340Met	missense variant	-	NC_000017.11:g.38735240C>T	ExAC,TOPMed,gnomAD
rs764305411	p.Val340Leu	missense variant	-	NC_000017.11:g.38735240C>A	ExAC,TOPMed,gnomAD
rs1208938665	p.Pro341Thr	missense variant	-	NC_000017.11:g.38735237G>T	TOPMed,gnomAD
rs1208938665	p.Pro341Ser	missense variant	-	NC_000017.11:g.38735237G>A	TOPMed,gnomAD
rs770193210	p.Pro342His	missense variant	-	NC_000017.11:g.38735233G>T	ExAC,TOPMed,gnomAD
rs770193210	p.Pro342Leu	missense variant	-	NC_000017.11:g.38735233G>A	ExAC,TOPMed,gnomAD
rs775916672	p.Pro342Thr	missense variant	-	NC_000017.11:g.38735234G>T	ExAC,TOPMed,gnomAD
rs775916672	p.Pro342Ala	missense variant	-	NC_000017.11:g.38735234G>C	ExAC,TOPMed,gnomAD
rs770193210	p.Pro342Arg	missense variant	-	NC_000017.11:g.38735233G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr344Arg	frameshift	-	NC_000017.11:g.38735225_38735229AAGTT>-	NCI-TCGA
rs1400663223	p.Ter345Unk	stop lost	-	NC_000017.11:g.38735224del	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0009319	Colitis	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0023487	Acute Promyelocytic Leukemia	disease	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025149	Medulloblastoma	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0038356	Stomach Neoplasms	group	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE;LHGDN
C1519670	Tumor Angiogenesis	phenotype	BEFREE
C3539878	Triple Negative Breast Neoplasms	disease	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003677	DNA binding	IEA
GO:0003700	DNA-binding transcription factor activity	TAS
GO:0005515	protein binding	IPI
GO:0046872	metal ion binding	IEA
GO:1990841	promoter-specific chromatin binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA
GO:0001701	in utero embryonic development	IEA
GO:0006342	chromatin silencing	IBA
GO:0009952	anterior/posterior pattern specification	IEA
GO:0016573	histone acetylation	IEA
GO:0036353	histone H2A-K119 monoubiquitination	IBA
GO:0036353	histone H2A-K119 monoubiquitination	IMP
GO:0048704	embryonic skeletal system morphogenesis	IEA
GO:0070301	cellular response to hydrogen peroxide	IEA
GO:0070317	negative regulation of G0 to G1 transition	TAS
GO:2001234	negative regulation of apoptotic signaling pathway	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	IDA
GO:0001739	sex chromatin	IEA
GO:0005634	nucleus	IDA
GO:0005654	nucleoplasm	IDA
GO:0005654	nucleoplasm	TAS
GO:0016604	nuclear body	IEA
GO:0031519	PcG protein complex	IDA
GO:0035102	PRC1 complex	IDA
GO:0035102	PRC1 complex	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1266738	Developmental Biology	IEA
R-HSA-212436	Generic Transcription Pathway	TAS
R-HSA-2990846	SUMOylation	TAS
R-HSA-2990846	SUMOylation	IEA
R-HSA-3108214	SUMOylation of DNA damage response and repair proteins	TAS
R-HSA-3108232	SUMO E3 ligases SUMOylate target proteins	TAS
R-HSA-3108232	SUMO E3 ligases SUMOylate target proteins	IEA
R-HSA-3899300	SUMOylation of transcription cofactors	TAS
R-HSA-392499	Metabolism of proteins	TAS
R-HSA-392499	Metabolism of proteins	IEA
R-HSA-4551638	SUMOylation of chromatin organization proteins	TAS
R-HSA-4570464	SUMOylation of RNA binding proteins	TAS
R-HSA-4655427	SUMOylation of DNA methylation proteins	IEA
R-HSA-5617472	Activation of anterior HOX genes in hindbrain development during early embryogenesis	IEA
R-HSA-5619507	Activation of HOX genes during differentiation	IEA
R-HSA-597592	Post-translational protein modification	TAS
R-HSA-597592	Post-translational protein modification	IEA
R-HSA-73857	RNA Polymerase II Transcription	TAS
R-HSA-74160	Gene expression (Transcription)	TAS
R-HSA-8953750	Transcriptional Regulation by E2F6	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in increased expression of PCGF2 mRNA	27291303
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 decreased expression of PCGF2 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 decreased expression of PCGF2 mRNA	27188386
D000082	Acetaminophen	Acetaminophen results in decreased expression of PCGF2 mRNA	22230336
D000661	Amphetamine	Amphetamine results in decreased expression of PCGF2 mRNA	30779732
D001564	Benzo(a)pyrene	Benzo(a)pyrene promotes the reaction [AHR protein binds to PCGF2 promoter]	19654925
C044887	beta-methylcholine	beta-methylcholine affects the expression of PCGF2 mRNA	21179406
C006780	bisphenol A	bisphenol A affects the methylation of PCGF2 promoter	27334623
C006780	bisphenol A	bisphenol A affects the expression of PCGF2 mRNA	25181051
C006780	bisphenol A	[bisphenol A co-treated with Estradiol] results in decreased expression of PCGF2 mRNA	26496021
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in decreased expression of PCGF2 mRNA	16934159
D003703	Demecolcine	Demecolcine results in decreased expression of PCGF2 mRNA	23649840
C000944	dicrotophos	dicrotophos results in increased expression of PCGF2 mRNA	28302478
D004041	Dietary Fats	Dietary Fats results in increased expression of PCGF2 mRNA	25016146
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 decreased expression of PCGF2 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 decreased expression of PCGF2 mRNA	27188386
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in increased expression of PCGF2 mRNA	22079256
D004958	Estradiol	[bisphenol A co-treated with Estradiol] results in decreased expression of PCGF2 mRNA	26496021
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of PCGF2 mRNA	23129252
D005557	Formaldehyde	Formaldehyde results in decreased expression of PCGF2 mRNA	23649840
D006997	Hypochlorous Acid	Hypochlorous Acid results in decreased expression of PCGF2 mRNA	19376150
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of PCGF2 mRNA	25613284
D058185	Magnetite Nanoparticles	[Succimer co-treated with Magnetite Nanoparticles] results in increased expression of PCGF2 mRNA	26378955
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate results in decreased expression of PCGF2 mRNA	31059758
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 decreased expression of PCGF2 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of PCGF2 mRNA	26272509
D010894	Piroxicam	Piroxicam results in increased expression of PCGF2 mRNA	21858171
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in increased expression of PCGF2 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in increased expression of PCGF2 mRNA	22079256
D011374	Progesterone	Progesterone affects the expression of PCGF2 mRNA	17251523
D004113	Succimer	[Succimer co-treated with Magnetite Nanoparticles] results in increased expression of PCGF2 mRNA	26378955
D013605	T-2 Toxin	T-2 Toxin results in increased expression of PCGF2 mRNA	31299295
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to PCGF2 promoter]	19654925
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of PCGF2 mRNA	25613284
C012589	trichostatin A	trichostatin A results in decreased expression of PCGF2 mRNA	24935251
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 decreased expression of PCGF2 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of PCGF2 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of PCGF2 mRNA	23179753; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased methylation of PCGF2 gene	29154799
C025643	vinclozolin	vinclozolin results in increased expression of PCGF2 mRNA	18042343
D014750	Vincristine	Vincristine results in decreased expression of PCGF2 mRNA	23649840
D000077337	Vorinostat	Vorinostat results in decreased expression of PCGF2 mRNA	27188386

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-1017	Isopeptide bond
KW-0991	Mental retardation
KW-0479	Metal-binding
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0678	Repressor
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0832	Ubl conjugation
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR032443	RAWUL
IPR001841	Znf_RING
IPR013083	Znf_RING/FYVE/PHD
IPR017907	Znf_RING_CS

PROSITE

PROSITE ID	PROSITE Term
PS00518	ZF_RING_1
PS50089	ZF_RING_2

Pfam

Pfam ID	Pfam Term
PF16207	RAWUL

Gene: PCGF2

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

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction