CleftGeneDB-Search

Gene: WNT9B

Basic information

Tag	Content
Uniprot ID	O14905; Q6UXT4; Q96Q09;
Entrez ID	7484
Genbank protein ID	AAC39551.1; AAQ88584.1; BAB70499.1;
Genbank nucleotide ID	NM_003396.2
Ensembl protein ID	ENSP00000482127; ENSP00000290015;
Ensembl nucleotide ID	ENSG00000158955; ENSG00000276799;
Gene name	Protein Wnt-9b
Gene symbol	WNT9B
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	24437584; 21462296; 28232668;
Functional description	Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt/beta-catenin signaling pathway. Required for normal embryonic kidney development, and for normal development of the urogenital tract, including uterus and part of the oviduct and the upper vagina in females, and epididymis and vas deferens in males. Activates a signaling cascade in the metanephric mesenchyme that induces tubulogenesis. Acts upstream of WNT4 in the signaling pathways that mediate development of kidney tubules and the Muellerian ducts. Plays a role in cranofacial development and is required for normal fusion of the palate during embryonic development (By similarity).
Sequence	MRPPPALALA GLCLLALPAA AASYFGLTGR EVLTPFPGLG TAAAPAQGGA HLKQCDLLKL 60 SRRQKQLCRR EPGLAETLRD AAHLGLLECQ FQFRHERWNC SLEGRMGLLK RGFKETAFLY 120 AVSSAALTHT LARACSAGRM ERCTCDDSPG LESRQAWQWG VCGDNLKYST KFLSNFLGSK 180 RGNKDLRARA DAHNTHVGIK AVKSGLRTTC KCHGVSGSCA VRTCWKQLSP FRETGQVLKL 240 RYDSAVKVSS ATNEALGRLE LWAPARQGSL TKGLAPRSGD LVYMEDSPSF CRPSKYSPGT 300 AGRVCSREAS CSSLCCGRGY DTQSRLVAFS CHCQVQWCCY VECQQCVQEE LVYTCKH 357

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	WNT9B	490919	J9P198		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	WNT9B		A0A452GA54		Capra hircus	Prediction	More>>
1:1 ortholog	WNT9B	7484	O14905		Homo sapiens	Publication	More>>
1:1 ortholog	Wnt9b	22412	O35468	CLP,CLO	Mus musculus	Publication	More>>
1:1 ortholog	WNT9B		A0A287BJB4		Sus scrofa	Prediction	More>>
1:1 ortholog	Wnt9b	303586	D3ZFS0		Rattus norvegicus	Prediction	More>>
1:1 ortholog	wnt9b	565677	B6V3E2		Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
WNT9B	rs1530364A>G	PCR; sequencing	24437584
WNT9B	rs4968282A>G (decrease risk)	Genotyping	21462296
WNT9B	rs1105127G>C	Genotyping	21462296
WNT9B	rs1530364C>T	PCR and sequencing	33110311
WNT9B	rs4968247G>A	GWAS	28232668
WNT9B	rs1838105G>A	GWAS	28232668

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs770723480	p.Arg2Cys	missense variant	-	NC_000017.11:g.46851642C>T	ExAC,TOPMed,gnomAD
rs926793763	p.Arg2Leu	missense variant	-	NC_000017.11:g.46851643G>T	TOPMed
rs776196246	p.Pro3Ala	missense variant	-	NC_000017.11:g.46851645C>G	ExAC,gnomAD
rs1170711309	p.Pro4Ala	missense variant	-	NC_000017.11:g.46851648C>G	TOPMed
rs1027704788	p.Pro5His	missense variant	-	NC_000017.11:g.46851652C>A	TOPMed,gnomAD
rs1309316934	p.Leu7Met	missense variant	-	NC_000017.11:g.46851657C>A	TOPMed,gnomAD
rs1350504389	p.Ala8Thr	missense variant	-	NC_000017.11:g.46851660G>A	gnomAD
rs1350504389	p.Ala8Ser	missense variant	-	NC_000017.11:g.46851660G>T	gnomAD
rs764676163	p.Ala10Ser	missense variant	-	NC_000017.11:g.46851666G>T	ExAC,TOPMed,gnomAD
rs1211142016	p.Gly11Arg	missense variant	-	NC_000017.11:g.46851669G>A	TOPMed
rs1444167754	p.Leu12Phe	missense variant	-	NC_000017.11:g.46851672C>T	TOPMed
rs1306864439	p.Cys13Tyr	missense variant	-	NC_000017.11:g.46851676G>A	TOPMed,gnomAD
rs1306864439	p.Cys13Ser	missense variant	-	NC_000017.11:g.46851676G>C	TOPMed,gnomAD
rs952008274	p.Ala16Glu	missense variant	-	NC_000017.11:g.46851685C>A	TOPMed,gnomAD
rs1316153769	p.Ala20Thr	missense variant	-	NC_000017.11:g.46851696G>A	TOPMed,gnomAD
rs1220462634	p.Ala21Val	missense variant	-	NC_000017.11:g.46851700C>T	gnomAD
rs1359003442	p.Ala21Ser	missense variant	-	NC_000017.11:g.46851699G>T	TOPMed,gnomAD
rs1359003442	p.Ala21Thr	missense variant	-	NC_000017.11:g.46851699G>A	TOPMed,gnomAD
rs924772476	p.Ala22Thr	missense variant	-	NC_000017.11:g.46851702G>A	TOPMed,gnomAD
rs1004145986	p.Gly29Ala	missense variant	-	NC_000017.11:g.46872525G>C	TOPMed
rs147055144	p.Gly29Arg	missense variant	-	NC_000017.11:g.46872524G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770668925	p.Arg30Trp	missense variant	-	NC_000017.11:g.46872527C>T	ExAC,TOPMed,gnomAD
rs777511530	p.Arg30Gln	missense variant	-	NC_000017.11:g.46872528G>A	ExAC,TOPMed,gnomAD
COSM3421645	p.Glu31Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46872532A>C	NCI-TCGA Cosmic
rs1248391615	p.Leu33Pro	missense variant	-	NC_000017.11:g.46872537T>C	gnomAD
NCI-TCGA novel	p.Leu33Gln	missense variant	-	NC_000017.11:g.46872537T>A	NCI-TCGA
rs770672150	p.Thr34Met	missense variant	-	NC_000017.11:g.46872540C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro35Ala	missense variant	-	NC_000017.11:g.46872542C>G	NCI-TCGA
rs745497462	p.Pro35Leu	missense variant	-	NC_000017.11:g.46872543C>T	NCI-TCGA
rs745497462	p.Pro35Leu	missense variant	-	NC_000017.11:g.46872543C>T	ExAC,gnomAD
COSM95533	p.Pro37Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46872548C>A	NCI-TCGA Cosmic
rs767745602	p.Pro37Ser	missense variant	-	NC_000017.11:g.46872548C>T	TOPMed,gnomAD
rs769476033	p.Pro37Arg	missense variant	-	NC_000017.11:g.46872549C>G	ExAC,gnomAD
rs775052722	p.Gly38Arg	missense variant	-	NC_000017.11:g.46872551G>A	ExAC,gnomAD
rs1190238760	p.Thr41Ser	missense variant	-	NC_000017.11:g.46872561C>G	TOPMed,gnomAD
rs1419850821	p.Ala42Thr	missense variant	-	NC_000017.11:g.46872563G>A	gnomAD
rs574292371	p.Ala42Glu	missense variant	-	NC_000017.11:g.46872564C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs574292371	p.Ala42Val	missense variant	-	NC_000017.11:g.46872564C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs561750885	p.Ala44Thr	missense variant	-	NC_000017.11:g.46872569G>A	1000Genomes,ExAC,gnomAD
rs766830702	p.Ala44Val	missense variant	-	NC_000017.11:g.46872570C>T	ExAC,gnomAD
rs530502749	p.Pro45Gln	missense variant	-	NC_000017.11:g.46872573C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs530502749	p.Pro45Arg	missense variant	-	NC_000017.11:g.46872573C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs530502749	p.Pro45Leu	missense variant	-	NC_000017.11:g.46872573C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs754298094	p.Pro45Thr	missense variant	-	NC_000017.11:g.46872572C>A	ExAC,gnomAD
rs118185468	p.Gln47Arg	missense variant	-	NC_000017.11:g.46872579A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs946269035	p.Gly48Val	missense variant	-	NC_000017.11:g.46872582G>T	TOPMed
rs777936396	p.Gly49Arg	missense variant	-	NC_000017.11:g.46872584G>A	ExAC,TOPMed,gnomAD
rs757232564	p.Ala50Thr	missense variant	-	NC_000017.11:g.46872587G>A	ExAC,TOPMed,gnomAD
rs780934556	p.Ala50Val	missense variant	-	NC_000017.11:g.46872588C>T	ExAC,TOPMed,gnomAD
rs1321309486	p.His51Arg	missense variant	-	NC_000017.11:g.46872591A>G	gnomAD
rs982203838	p.Lys53Arg	missense variant	-	NC_000017.11:g.46872597A>G	TOPMed,gnomAD
rs200969361	p.Gln54His	missense variant	-	NC_000017.11:g.46872601G>T	ExAC,TOPMed,gnomAD
rs779508447	p.Gln54Arg	missense variant	-	NC_000017.11:g.46872600A>G	ExAC,TOPMed,gnomAD
rs200148344	p.Asp56Glu	missense variant	-	NC_000017.11:g.46872607C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys59Asn	missense variant	-	NC_000017.11:g.46872616G>T	NCI-TCGA
rs369919312	p.Leu60Val	missense variant	-	NC_000017.11:g.46872617C>G	ESP,ExAC,TOPMed,gnomAD
rs1368052360	p.Leu60Pro	missense variant	-	NC_000017.11:g.46872618T>C	TOPMed
rs138915734	p.Arg62Gln	missense variant	-	NC_000017.11:g.46872624G>A	ESP,ExAC,TOPMed,gnomAD
rs761237620	p.Arg62Trp	missense variant	-	NC_000017.11:g.46872623C>T	ExAC,TOPMed,gnomAD
rs761237620	p.Arg62Gly	missense variant	-	NC_000017.11:g.46872623C>G	ExAC,TOPMed,gnomAD
rs138915734	p.Arg62Leu	missense variant	-	NC_000017.11:g.46872624G>T	ESP,ExAC,TOPMed,gnomAD
rs566511950	p.Arg63Trp	missense variant	-	NC_000017.11:g.46872626C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs149418183	p.Arg63Gln	missense variant	-	NC_000017.11:g.46872627G>A	ESP,ExAC,TOPMed,gnomAD
rs566511950	p.Arg63Trp	missense variant	-	NC_000017.11:g.46872626C>T	NCI-TCGA,NCI-TCGA Cosmic
rs144844694	p.Arg69Trp	missense variant	-	NC_000017.11:g.46872644C>T	ESP,ExAC,TOPMed,gnomAD
rs148393089	p.Arg69Gln	missense variant	-	NC_000017.11:g.46872645G>A	ESP,ExAC,TOPMed,gnomAD
rs1282713416	p.Pro72Ser	missense variant	-	NC_000017.11:g.46872653C>T	gnomAD
rs751678375	p.Pro72His	missense variant	-	NC_000017.11:g.46872654C>A	ExAC,gnomAD
rs781051102	p.Gly73Ser	missense variant	-	NC_000017.11:g.46872656G>A	ExAC,TOPMed,gnomAD
rs1213346885	p.Ala75Asp	missense variant	-	NC_000017.11:g.46872663C>A	gnomAD
rs1266890005	p.Thr77Asn	missense variant	-	NC_000017.11:g.46872669C>A	gnomAD
rs1266062625	p.Asp80Asn	missense variant	-	NC_000017.11:g.46872677G>A	gnomAD
rs1466900903	p.Ala81Thr	missense variant	-	NC_000017.11:g.46872680G>A	TOPMed
rs779923395	p.Ala82Val	missense variant	-	NC_000017.11:g.46872684C>T	NCI-TCGA
rs1001987910	p.Ala82Thr	missense variant	-	NC_000017.11:g.46872683G>A	TOPMed
rs779923395	p.Ala82Glu	missense variant	-	NC_000017.11:g.46872684C>A	ExAC,TOPMed,gnomAD
rs779923395	p.Ala82Val	missense variant	-	NC_000017.11:g.46872684C>T	ExAC,TOPMed,gnomAD
rs768397514	p.His83Arg	missense variant	-	NC_000017.11:g.46872687A>G	ExAC,TOPMed,gnomAD
rs1367754683	p.Gly85Ser	missense variant	-	NC_000017.11:g.46872692G>A	gnomAD
rs1425530655	p.Leu87Phe	missense variant	-	NC_000017.11:g.46872698C>T	gnomAD
rs771718316	p.Glu88Gln	missense variant	-	NC_000017.11:g.46872701G>C	ExAC,gnomAD
rs760149629	p.Gln90Arg	missense variant	-	NC_000017.11:g.46872708A>G	ExAC,gnomAD
rs1280105309	p.Gln90His	missense variant	-	NC_000017.11:g.46872709G>T	gnomAD
rs770001943	p.Gln92Ter	stop gained	-	NC_000017.11:g.46872713C>T	ExAC,gnomAD
rs75199851	p.Arg94Gln	missense variant	-	NC_000017.11:g.46872720G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775970973	p.Arg94Trp	missense variant	-	NC_000017.11:g.46872719C>T	ExAC,TOPMed,gnomAD
rs764444576	p.His95Arg	missense variant	-	NC_000017.11:g.46872723A>G	ExAC,TOPMed,gnomAD
rs761814917	p.Glu96Gly	missense variant	-	NC_000017.11:g.46872726A>G	ExAC,TOPMed,gnomAD
rs751625191	p.Glu96Lys	missense variant	-	NC_000017.11:g.46872725G>A	ExAC,gnomAD
rs1005356608	p.Arg97Cys	missense variant	-	NC_000017.11:g.46872728C>T	gnomAD
rs201223229	p.Arg97Leu	missense variant	-	NC_000017.11:g.46872729G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201223229	p.Arg97His	missense variant	-	NC_000017.11:g.46872729G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs766059492	p.Asn99Ser	missense variant	-	NC_000017.11:g.46872735A>G	ExAC,TOPMed,gnomAD
COSM6081105	p.Asn99Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46872734A>T	NCI-TCGA Cosmic
rs1387397358	p.Asn99Lys	missense variant	-	NC_000017.11:g.46872736C>A	gnomAD
rs753736943	p.Ser101Asn	missense variant	-	NC_000017.11:g.46872741G>A	ExAC
NCI-TCGA novel	p.Leu102Pro	missense variant	-	NC_000017.11:g.46872744T>C	NCI-TCGA
rs557683872	p.Gly104Ser	missense variant	-	NC_000017.11:g.46872749G>A	NCI-TCGA,NCI-TCGA Cosmic
rs557683872	p.Gly104Ser	missense variant	-	NC_000017.11:g.46872749G>A	1000Genomes,ExAC,gnomAD
rs1182092564	p.Arg105Lys	missense variant	-	NC_000017.11:g.46872753G>A	TOPMed
rs145947242	p.Arg105Gly	missense variant	-	NC_000017.11:g.46872752A>G	ESP,ExAC,TOPMed,gnomAD
rs534003715	p.Met106Ile	missense variant	-	NC_000017.11:g.46872757G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs4968281	p.Met106Arg	missense variant	-	NC_000017.11:g.46872756T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs4968281	p.Met106Thr	missense variant	-	NC_000017.11:g.46872756T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1329606333	p.Gly107Val	missense variant	-	NC_000017.11:g.46872759G>T	TOPMed,gnomAD
rs1329606333	p.Gly107Asp	missense variant	-	NC_000017.11:g.46872759G>A	TOPMed,gnomAD
rs1418141548	p.Arg111Ile	missense variant	-	NC_000017.11:g.46872771G>T	TOPMed,gnomAD
rs1186584056	p.Lys114Glu	missense variant	-	NC_000017.11:g.46875106A>G	TOPMed
COSM4402454	p.Glu115Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46875110A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu115Asp	missense variant	-	NC_000017.11:g.46875111G>T	NCI-TCGA
rs751175581	p.Ala117Gly	missense variant	-	NC_000017.11:g.46875116C>G	ExAC,gnomAD
rs761421453	p.Phe118Leu	missense variant	-	NC_000017.11:g.46875118T>C	ExAC,gnomAD
COSM1147787	p.Leu119Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46875121C>G	NCI-TCGA Cosmic
rs749969946	p.Ala121Thr	missense variant	-	NC_000017.11:g.46875127G>A	ExAC,gnomAD
rs375739988	p.Ala121Val	missense variant	-	NC_000017.11:g.46875128C>T	NCI-TCGA,NCI-TCGA Cosmic
rs375739988	p.Ala121Val	missense variant	-	NC_000017.11:g.46875128C>T	ESP,ExAC,TOPMed,gnomAD
rs1392415275	p.Val122Ala	missense variant	-	NC_000017.11:g.46875131T>C	gnomAD
rs1328620420	p.Ser123Cys	missense variant	-	NC_000017.11:g.46875134C>G	gnomAD
rs116126279	p.Ala126Thr	missense variant	-	NC_000017.11:g.46875142G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371468509	p.Thr130Asn	missense variant	-	NC_000017.11:g.46875155C>A	ESP,ExAC,TOPMed,gnomAD
rs1242785878	p.Leu131Met	missense variant	-	NC_000017.11:g.46875157C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala132Val	missense variant	-	NC_000017.11:g.46875161C>T	NCI-TCGA
rs1004684045	p.Arg133Trp	missense variant	-	NC_000017.11:g.46875163C>T	TOPMed
rs554846731	p.Arg133Gln	missense variant	-	NC_000017.11:g.46875164G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs554846731	p.Arg133Leu	missense variant	-	NC_000017.11:g.46875164G>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala134ArgVal	insertion	-	NC_000017.11:g.46875168_46875169insAGGGTG	NCI-TCGA
rs1302127442	p.Cys135Trp	missense variant	-	NC_000017.11:g.46875171C>G	TOPMed
rs202125492	p.Ala137Thr	missense variant	-	NC_000017.11:g.46875175G>A	1000Genomes,ExAC,gnomAD
rs1462515354	p.Ala137Val	missense variant	-	NC_000017.11:g.46875176C>T	gnomAD
rs774054853	p.Arg139His	missense variant	-	NC_000017.11:g.46875182G>A	ExAC,gnomAD
rs1421685695	p.Arg139Cys	missense variant	-	NC_000017.11:g.46875181C>T	gnomAD
rs774054853	p.Arg139Leu	missense variant	-	NC_000017.11:g.46875182G>T	ExAC,gnomAD
COSM3518418	p.Met140Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46875186G>A	NCI-TCGA Cosmic
rs767136208	p.Met140Lys	missense variant	-	NC_000017.11:g.46875185T>A	ExAC,gnomAD
rs1267142310	p.Met140Leu	missense variant	-	NC_000017.11:g.46875184A>C	gnomAD
rs1170545290	p.Glu141Lys	missense variant	-	NC_000017.11:g.46875187G>A	gnomAD
NCI-TCGA novel	p.Glu141Val	missense variant	-	NC_000017.11:g.46875188A>T	NCI-TCGA
rs1024072302	p.Arg142Leu	missense variant	-	NC_000017.11:g.46875191G>T	TOPMed,gnomAD
rs1024072302	p.Arg142His	missense variant	-	NC_000017.11:g.46875191G>A	TOPMed,gnomAD
rs769660426	p.Arg142Cys	missense variant	-	NC_000017.11:g.46875190C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr144Ser	missense variant	-	NC_000017.11:g.46875197C>G	NCI-TCGA
rs765909398	p.Asp147Glu	missense variant	-	NC_000017.11:g.46875207C>G	ExAC,TOPMed,gnomAD
rs753150520	p.Ser148Phe	missense variant	-	NC_000017.11:g.46875209C>T	ExAC,gnomAD
rs967098051	p.Pro149Leu	missense variant	-	NC_000017.11:g.46875212C>T	TOPMed,gnomAD
rs764485687	p.Gly150Glu	missense variant	-	NC_000017.11:g.46875215G>A	ExAC,TOPMed,gnomAD
rs149949310	p.Glu152Lys	missense variant	-	NC_000017.11:g.46875220G>A	ESP,ExAC,TOPMed,gnomAD
rs757486834	p.Ser153Ile	missense variant	-	NC_000017.11:g.46875224G>T	ExAC,TOPMed,gnomAD
rs757486834	p.Ser153Thr	missense variant	-	NC_000017.11:g.46875224G>C	ExAC,TOPMed,gnomAD
rs756222047	p.Arg154Gln	missense variant	-	NC_000017.11:g.46875227G>A	ExAC,TOPMed,gnomAD
rs756222047	p.Arg154Pro	missense variant	-	NC_000017.11:g.46875227G>C	ExAC,TOPMed,gnomAD
rs746091846	p.Arg154Trp	missense variant	-	NC_000017.11:g.46875226C>T	ExAC,TOPMed,gnomAD
rs910262606	p.Trp159Cys	missense variant	-	NC_000017.11:g.46875243G>C	TOPMed
rs768544945	p.Trp159Arg	missense variant	-	NC_000017.11:g.46875241T>C	ExAC,gnomAD
rs149119515	p.Val161Met	missense variant	-	NC_000017.11:g.46875247G>A	ESP,ExAC,TOPMed,gnomAD
rs149119515	p.Val161Leu	missense variant	-	NC_000017.11:g.46875247G>C	ESP,ExAC,TOPMed,gnomAD
rs1412072667	p.Val161Glu	missense variant	-	NC_000017.11:g.46875248T>A	TOPMed
rs1296121365	p.Cys162Gly	missense variant	-	NC_000017.11:g.46875250T>G	TOPMed
rs772815552	p.Gly163Cys	missense variant	-	NC_000017.11:g.46875253G>T	ExAC,gnomAD
rs772815552	p.Gly163Ser	missense variant	-	NC_000017.11:g.46875253G>A	ExAC,gnomAD
rs1422190478	p.Asp164Val	missense variant	-	NC_000017.11:g.46875257A>T	gnomAD
NCI-TCGA novel	p.Leu166Pro	missense variant	-	NC_000017.11:g.46875263T>C	NCI-TCGA
NCI-TCGA novel	p.Tyr168Cys	missense variant	-	NC_000017.11:g.46875269A>G	NCI-TCGA
rs765849480	p.Ser169Asn	missense variant	-	NC_000017.11:g.46875272G>A	ExAC,gnomAD
rs760338760	p.Ser169Gly	missense variant	-	NC_000017.11:g.46875271A>G	ExAC,TOPMed,gnomAD
rs776156211	p.Thr170Ile	missense variant	-	NC_000017.11:g.46875275C>T	ExAC,TOPMed,gnomAD
rs1399535819	p.Lys171Glu	missense variant	-	NC_000017.11:g.46875277A>G	gnomAD
NCI-TCGA novel	p.Phe172Leu	missense variant	-	NC_000017.11:g.46875280T>C	NCI-TCGA
rs1276383999	p.Phe172Leu	missense variant	-	NC_000017.11:g.46875282T>A	gnomAD
NCI-TCGA novel	p.Ser174Gly	missense variant	-	NC_000017.11:g.46875286A>G	NCI-TCGA
rs73987096	p.Ser174Arg	missense variant	-	NC_000017.11:g.46875288C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser179Phe	missense variant	-	NC_000017.11:g.46875302C>T	NCI-TCGA
rs764565715	p.Arg181Ile	missense variant	-	NC_000017.11:g.46875308G>T	ExAC,gnomAD
COSM3518419	p.Gly182Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46875311G>A	NCI-TCGA Cosmic
COSM4067195	p.Asn183Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46875313A>T	NCI-TCGA Cosmic
rs370511554	p.Asn183Lys	missense variant	-	NC_000017.11:g.46875315C>A	ESP,ExAC,TOPMed,gnomAD
rs757496576	p.Lys184Asn	missense variant	-	NC_000017.11:g.46875318G>C	ExAC,gnomAD
rs768024851	p.Asp185Asn	missense variant	-	NC_000017.11:g.46875319G>A	ExAC,gnomAD
rs115421139	p.Asp185Glu	missense variant	-	NC_000017.11:g.46875321C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200104547	p.Arg187Trp	missense variant	-	NC_000017.11:g.46875325C>T	ExAC
rs1213829551	p.Arg187Gln	missense variant	-	NC_000017.11:g.46875326G>A	TOPMed,gnomAD
rs1270343087	p.Ala188Thr	missense variant	-	NC_000017.11:g.46875328G>A	gnomAD
rs568737032	p.Arg189Gln	missense variant	-	NC_000017.11:g.46875332G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs568737032	p.Arg189Leu	missense variant	-	NC_000017.11:g.46875332G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs147677642	p.Arg189Gly	missense variant	-	NC_000017.11:g.46875331C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147677642	p.Arg189Trp	missense variant	-	NC_000017.11:g.46875331C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1431848216	p.Ala190Gly	missense variant	-	NC_000017.11:g.46875335C>G	gnomAD
rs1431848216	p.Ala190Glu	missense variant	-	NC_000017.11:g.46875335C>A	gnomAD
rs142428656	p.Asp191Glu	missense variant	-	NC_000017.11:g.46875339C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs188845108	p.Ala192Thr	missense variant	-	NC_000017.11:g.46875340G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1419261201	p.His193Arg	missense variant	-	NC_000017.11:g.46875344A>G	gnomAD
rs746637340	p.Asn194Ser	missense variant	-	NC_000017.11:g.46875347A>G	ExAC,TOPMed,gnomAD
rs770639789	p.Thr195Ala	missense variant	-	NC_000017.11:g.46875349A>G	ExAC,gnomAD
rs201480547	p.Val197Leu	missense variant	-	NC_000017.11:g.46875355G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201480547	p.Val197Met	missense variant	-	NC_000017.11:g.46875355G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1365381549	p.Gly198Val	missense variant	-	NC_000017.11:g.46875359G>T	gnomAD
rs1365381549	p.Gly198Asp	missense variant	-	NC_000017.11:g.46875359G>A	gnomAD
rs762405316	p.Ile199Met	missense variant	-	NC_000017.11:g.46875363C>G	ExAC,TOPMed,gnomAD
rs1399426717	p.Val202Met	missense variant	-	NC_000017.11:g.46876248G>A	gnomAD
rs1338447518	p.Ser204Arg	missense variant	-	NC_000017.11:g.46876256T>G	gnomAD
rs148340304	p.Ser204Asn	missense variant	-	NC_000017.11:g.46876255G>A	ESP,ExAC,TOPMed,gnomAD
rs752892527	p.Thr209Met	missense variant	-	NC_000017.11:g.46876270C>T	ExAC,TOPMed,gnomAD
rs1259325946	p.Val215Ala	missense variant	-	NC_000017.11:g.46876288T>C	gnomAD
rs781063224	p.Val215Leu	missense variant	-	NC_000017.11:g.46876287G>C	ExAC,TOPMed,gnomAD
rs781063224	p.Val215Ile	missense variant	-	NC_000017.11:g.46876287G>A	ExAC,TOPMed,gnomAD
rs372115656	p.Val221Met	missense variant	-	NC_000017.11:g.46876305G>A	ESP,ExAC,TOPMed,gnomAD
rs773812928	p.Arg222Cys	missense variant	-	NC_000017.11:g.46876308C>T	ExAC,gnomAD
rs773812928	p.Arg222Ser	missense variant	-	NC_000017.11:g.46876308C>A	ExAC,gnomAD
rs138314634	p.Arg222His	missense variant	-	NC_000017.11:g.46876309G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138314634	p.Arg222Leu	missense variant	-	NC_000017.11:g.46876309G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777098128	p.Thr223Ile	missense variant	-	NC_000017.11:g.46876312C>T	ExAC,gnomAD
rs1422908876	p.Cys224Ser	missense variant	-	NC_000017.11:g.46876314T>A	gnomAD
rs759676285	p.Gln227His	missense variant	-	NC_000017.11:g.46876325G>C	ExAC,gnomAD
rs1295884388	p.Gln227Arg	missense variant	-	NC_000017.11:g.46876324A>G	TOPMed
rs765555952	p.Pro230Leu	missense variant	-	NC_000017.11:g.46876333C>T	ExAC,TOPMed,gnomAD
rs765555952	p.Pro230Arg	missense variant	-	NC_000017.11:g.46876333C>G	ExAC,TOPMed,gnomAD
rs376925107	p.Arg232His	missense variant	-	NC_000017.11:g.46876339G>A	ESP,ExAC,TOPMed,gnomAD
rs376925107	p.Arg232Pro	missense variant	-	NC_000017.11:g.46876339G>C	ESP,ExAC,TOPMed,gnomAD
rs1413589890	p.Arg232Cys	missense variant	-	NC_000017.11:g.46876338C>T	gnomAD
rs139124897	p.Thr234Met	missense variant	-	NC_000017.11:g.46876345C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly235Ser	missense variant	-	NC_000017.11:g.46876347G>A	NCI-TCGA
COSM980344	p.Lys239Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46876360A>G	NCI-TCGA Cosmic
rs138530379	p.Arg241His	missense variant	-	NC_000017.11:g.46876366G>A	ESP,ExAC,TOPMed,gnomAD
rs913178601	p.Arg241Cys	missense variant	-	NC_000017.11:g.46876365C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Tyr242Asn	missense variant	-	NC_000017.11:g.46876368T>A	NCI-TCGA
rs115163288	p.Ser244Trp	missense variant	-	NC_000017.11:g.46876375C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs115163288	p.Ser244Leu	missense variant	-	NC_000017.11:g.46876375C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1200217714	p.Ala245Ser	missense variant	-	NC_000017.11:g.46876377G>T	gnomAD
rs748976950	p.Val246Leu	missense variant	-	NC_000017.11:g.46876380G>C	ExAC,gnomAD
rs748976950	p.Val246Ile	missense variant	-	NC_000017.11:g.46876380G>A	ExAC,gnomAD
rs1245476858	p.Val248Leu	missense variant	-	NC_000017.11:g.46876386G>T	TOPMed
rs778611375	p.Ala251Val	missense variant	-	NC_000017.11:g.46876396C>T	ExAC,TOPMed,gnomAD
rs1269239953	p.Glu254Gly	missense variant	-	NC_000017.11:g.46876405A>G	TOPMed
rs149931425	p.Arg258His	missense variant	-	NC_000017.11:g.46876417G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149931425	p.Arg258Leu	missense variant	-	NC_000017.11:g.46876417G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771539878	p.Arg258Cys	missense variant	-	NC_000017.11:g.46876416C>T	ExAC,TOPMed,gnomAD
rs1390279271	p.Glu260Gln	missense variant	-	NC_000017.11:g.46876422G>C	TOPMed
rs770061645	p.Trp262Cys	missense variant	-	NC_000017.11:g.46876430G>T	ExAC,gnomAD
rs564435829	p.Ala263Asp	missense variant	-	NC_000017.11:g.46876432C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs564435829	p.Ala263Gly	missense variant	-	NC_000017.11:g.46876432C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs763186608	p.Ala265Val	missense variant	-	NC_000017.11:g.46876438C>T	ExAC,gnomAD
rs368406991	p.Gln267His	missense variant	-	NC_000017.11:g.46876445G>C	ESP,ExAC,gnomAD
rs533419961	p.Gly268Asp	missense variant	-	NC_000017.11:g.46876447G>A	1000Genomes,gnomAD
rs1450443579	p.Ser269Thr	missense variant	-	NC_000017.11:g.46876450G>C	TOPMed
rs142604963	p.Thr271Ala	missense variant	-	NC_000017.11:g.46876455A>G	ESP,ExAC,TOPMed,gnomAD
rs1233061377	p.Thr271Ser	missense variant	-	NC_000017.11:g.46876456C>G	gnomAD
rs750331067	p.Ala275Thr	missense variant	-	NC_000017.11:g.46876467G>A	ExAC,gnomAD
rs755897150	p.Ala275Val	missense variant	-	NC_000017.11:g.46876468C>T	ExAC,TOPMed,gnomAD
rs766108370	p.Arg277Ser	missense variant	-	NC_000017.11:g.46876475G>C	ExAC,gnomAD
rs1268042201	p.Ser278Thr	missense variant	-	NC_000017.11:g.46876476T>A	gnomAD
rs1196489495	p.Tyr283Asn	missense variant	-	NC_000017.11:g.46876491T>A	gnomAD
rs886733407	p.Met284Val	missense variant	-	NC_000017.11:g.46876494A>G	TOPMed
rs1439951991	p.Met284Thr	missense variant	-	NC_000017.11:g.46876495T>C	gnomAD
COSM4933642	p.Glu285Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.46876497G>T	NCI-TCGA Cosmic
rs1182286577	p.Pro288Leu	missense variant	-	NC_000017.11:g.46876507C>T	TOPMed
rs754714809	p.Ser289Asn	missense variant	-	NC_000017.11:g.46876510G>A	ExAC,TOPMed,gnomAD
rs139617595	p.Arg292Gln	missense variant	-	NC_000017.11:g.46876519G>A	ESP,ExAC,TOPMed,gnomAD
rs778566187	p.Arg292Trp	missense variant	-	NC_000017.11:g.46876518C>T	ExAC,TOPMed,gnomAD
rs781676873	p.Pro293Ser	missense variant	-	NC_000017.11:g.46876521C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro293His	missense variant	-	NC_000017.11:g.46876522C>A	NCI-TCGA
rs770148152	p.Ser294Asn	missense variant	-	NC_000017.11:g.46876525G>A	ExAC,gnomAD
rs1447945897	p.Tyr296His	missense variant	-	NC_000017.11:g.46876530T>C	gnomAD
rs1258557774	p.Ser297Leu	missense variant	-	NC_000017.11:g.46876534C>T	TOPMed
rs749481197	p.Pro298Ser	missense variant	-	NC_000017.11:g.46876536C>T	ExAC,gnomAD
rs1239051089	p.Pro298Leu	missense variant	-	NC_000017.11:g.46876537C>T	TOPMed
NCI-TCGA novel	p.Gly299Asp	missense variant	-	NC_000017.11:g.46876540G>A	NCI-TCGA
rs768924139	p.Arg303Ser	missense variant	-	NC_000017.11:g.46876553G>T	ExAC
rs1035869031	p.Cys305Ter	stop gained	-	NC_000017.11:g.46876559C>A	TOPMed
rs1351772149	p.Cys305Tyr	missense variant	-	NC_000017.11:g.46876558G>A	gnomAD
rs1243156507	p.Ser306Tyr	missense variant	-	NC_000017.11:g.46876561C>A	TOPMed
rs146452687	p.Arg307Trp	missense variant	-	NC_000017.11:g.46876563C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs528217802	p.Arg307Gln	missense variant	-	NC_000017.11:g.46876564G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM6081104	p.Glu308Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46876568G>T	NCI-TCGA Cosmic
rs772073215	p.Glu308Gly	missense variant	-	NC_000017.11:g.46876567A>G	ExAC,gnomAD
rs773150977	p.Ser310Gly	missense variant	-	NC_000017.11:g.46876572A>G	ExAC,gnomAD
rs1252538009	p.Ser310Asn	missense variant	-	NC_000017.11:g.46876573G>A	gnomAD
rs1383675976	p.Cys311Tyr	missense variant	-	NC_000017.11:g.46876576G>A	TOPMed
rs760575637	p.Ser313Ile	missense variant	-	NC_000017.11:g.46876582G>T	ExAC,gnomAD
rs753748759	p.Gly317Arg	missense variant	-	NC_000017.11:g.46876593G>C	ExAC,TOPMed,gnomAD
rs753748759	p.Gly317Arg	missense variant	-	NC_000017.11:g.46876593G>A	ExAC,TOPMed,gnomAD
rs759252167	p.Arg318Trp	missense variant	-	NC_000017.11:g.46876596C>T	ExAC,TOPMed,gnomAD
rs375590479	p.Arg318Gln	missense variant	-	NC_000017.11:g.46876597G>A	ESP,ExAC,TOPMed,gnomAD
rs375590479	p.Arg318Pro	missense variant	-	NC_000017.11:g.46876597G>C	ESP,ExAC,TOPMed,gnomAD
rs1457871744	p.Tyr320Cys	missense variant	-	NC_000017.11:g.46876603A>G	gnomAD
rs548293670	p.Thr322Ser	missense variant	-	NC_000017.11:g.46876609C>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM264708	p.Ser324Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46876615G>A	NCI-TCGA Cosmic
rs777170957	p.Ser324Gly	missense variant	-	NC_000017.11:g.46876614A>G	ExAC,gnomAD
rs756619453	p.Arg325Leu	missense variant	-	NC_000017.11:g.46876618G>T	ExAC,TOPMed,gnomAD
rs369957679	p.Arg325Cys	missense variant	-	NC_000017.11:g.46876617C>T	ESP,ExAC,TOPMed,gnomAD
rs756619453	p.Arg325His	missense variant	-	NC_000017.11:g.46876618G>A	ExAC,TOPMed,gnomAD
rs779065433	p.Ala328Val	missense variant	-	NC_000017.11:g.46876627C>T	ExAC,gnomAD
rs769012279	p.Ala328Ser	missense variant	-	NC_000017.11:g.46876626G>T	ExAC,gnomAD
rs1490394741	p.Ser330Cys	missense variant	-	NC_000017.11:g.46876633C>G	TOPMed
rs201736628	p.Ser330Pro	missense variant	-	NC_000017.11:g.46876632T>C	ExAC,gnomAD
rs1293520975	p.His332Tyr	missense variant	-	NC_000017.11:g.46876638C>T	TOPMed
rs1182041002	p.Cys333Phe	missense variant	-	NC_000017.11:g.46876642G>T	gnomAD
rs760652296	p.Gln334His	missense variant	-	NC_000017.11:g.46876646G>C	ExAC,gnomAD
rs773201960	p.Gln334Ter	stop gained	-	NC_000017.11:g.46876644C>T	ExAC,gnomAD
rs1426495015	p.Gln336Ter	stop gained	-	NC_000017.11:g.46876650C>T	gnomAD
rs1478398924	p.Gln336Arg	missense variant	-	NC_000017.11:g.46876651A>G	gnomAD
rs1219572383	p.Trp337Arg	missense variant	-	NC_000017.11:g.46876653T>C	TOPMed
rs1334112263	p.Tyr340Cys	missense variant	-	NC_000017.11:g.46876663A>G	gnomAD
rs144564507	p.Val341Met	missense variant	-	NC_000017.11:g.46876665G>A	1000Genomes,ESP,ExAC,gnomAD
NCI-TCGA novel	p.Glu342Gln	missense variant	-	NC_000017.11:g.46876668G>C	NCI-TCGA
rs1360393862	p.Glu342Lys	missense variant	-	NC_000017.11:g.46876668G>A	gnomAD
rs369515545	p.Cys343Ter	stop gained	-	NC_000017.11:g.46876673C>A	ESP,ExAC,TOPMed,gnomAD
rs762563952	p.Gln348His	missense variant	-	NC_000017.11:g.46876688G>T	ExAC,TOPMed,gnomAD
rs1229600520	p.Glu349Lys	missense variant	-	NC_000017.11:g.46876689G>A	TOPMed
rs751098377	p.Glu349Gly	missense variant	-	NC_000017.11:g.46876690A>G	ExAC
rs147655057	p.Leu351Pro	missense variant	-	NC_000017.11:g.46876696T>C	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Tyr353His	missense variant	-	NC_000017.11:g.46876701T>C	NCI-TCGA
rs770723480	p.Arg2Cys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680554C>T	ExAC,TOPMed,gnomAD
rs926793763	p.Arg2Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680555G>T	TOPMed
rs776196246	p.Pro3Ala	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680557C>G	ExAC,gnomAD
rs1170711309	p.Pro4Ala	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680560C>G	TOPMed
rs1027704788	p.Pro5His	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680564C>A	TOPMed,gnomAD
rs1309316934	p.Leu7Met	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680569C>A	TOPMed,gnomAD
rs1350504389	p.Ala8Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680572G>A	gnomAD
rs1350504389	p.Ala8Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680572G>T	gnomAD
rs764676163	p.Ala10Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680578G>T	ExAC,TOPMed,gnomAD
rs1211142016	p.Gly11Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680581G>A	TOPMed
rs1444167754	p.Leu12Phe	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680584C>T	TOPMed
rs1306864439	p.Cys13Tyr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680588G>A	TOPMed,gnomAD
rs1306864439	p.Cys13Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680588G>C	TOPMed,gnomAD
rs952008274	p.Ala16Glu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680597C>A	TOPMed,gnomAD
rs1316153769	p.Ala20Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680608G>A	TOPMed,gnomAD
rs1220462634	p.Ala21Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680612C>T	gnomAD
rs1359003442	p.Ala21Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680611G>T	TOPMed,gnomAD
rs1359003442	p.Ala21Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680611G>A	TOPMed,gnomAD
rs924772476	p.Ala22Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680614G>A	TOPMed,gnomAD
rs1004145986	p.Gly29Ala	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701439G>C	TOPMed
rs147055144	p.Gly29Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701438G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777511530	p.Arg30Gln	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701442G>A	ExAC,TOPMed,gnomAD
rs770668925	p.Arg30Trp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701441C>T	ExAC,TOPMed,gnomAD
rs1248391615	p.Leu33Pro	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701451T>C	gnomAD
rs770672150	p.Thr34Met	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701454C>T	ExAC,TOPMed,gnomAD
rs745497462	p.Pro35Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701457C>T	ExAC,gnomAD
rs767745602	p.Pro37Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701462C>T	TOPMed,gnomAD
rs769476033	p.Pro37Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701463C>G	ExAC,gnomAD
rs775052722	p.Gly38Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701465G>A	ExAC,gnomAD
rs1190238760	p.Thr41Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701475C>G	TOPMed,gnomAD
rs574292371	p.Ala42Glu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701478C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs574292371	p.Ala42Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701478C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1419850821	p.Ala42Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701477G>A	gnomAD
rs561750885	p.Ala44Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701483G>A	1000Genomes,ExAC,gnomAD
rs766830702	p.Ala44Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701484C>T	ExAC,gnomAD
rs754298094	p.Pro45Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701486C>A	ExAC,gnomAD
rs530502749	p.Pro45Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701487C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs530502749	p.Pro45Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701487C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs530502749	p.Pro45Gln	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701487C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs118185468	p.Gln47Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701493A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs946269035	p.Gly48Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701496G>T	TOPMed
rs777936396	p.Gly49Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701498G>A	ExAC,TOPMed,gnomAD
rs780934556	p.Ala50Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701502C>T	ExAC,TOPMed,gnomAD
rs757232564	p.Ala50Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701501G>A	ExAC,TOPMed,gnomAD
rs1321309486	p.His51Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701505A>G	gnomAD
rs982203838	p.Lys53Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701511A>G	TOPMed,gnomAD
rs200969361	p.Gln54His	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701515G>T	ExAC,TOPMed,gnomAD
rs779508447	p.Gln54Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701514A>G	ExAC,TOPMed,gnomAD
rs200148344	p.Asp56Glu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701521C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369919312	p.Leu60Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701531C>G	ESP,ExAC,TOPMed,gnomAD
rs1368052360	p.Leu60Pro	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701532T>C	TOPMed
rs761237620	p.Arg62Trp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701537C>T	ExAC,TOPMed,gnomAD
rs138915734	p.Arg62Gln	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701538G>A	ESP,ExAC,TOPMed,gnomAD
rs138915734	p.Arg62Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701538G>T	ESP,ExAC,TOPMed,gnomAD
rs761237620	p.Arg62Gly	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701537C>G	ExAC,TOPMed,gnomAD
rs566511950	p.Arg63Trp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701540C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs149418183	p.Arg63Gln	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701541G>A	ESP,ExAC,TOPMed,gnomAD
rs144844694	p.Arg69Trp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701558C>T	ESP,ExAC,TOPMed,gnomAD
rs148393089	p.Arg69Gln	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701559G>A	ESP,ExAC,TOPMed,gnomAD
rs1282713416	p.Pro72Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701567C>T	gnomAD
rs751678375	p.Pro72His	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701568C>A	ExAC,gnomAD
rs781051102	p.Gly73Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701570G>A	ExAC,TOPMed,gnomAD
rs1213346885	p.Ala75Asp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701577C>A	gnomAD
rs1266890005	p.Thr77Asn	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701583C>A	gnomAD
rs1266062625	p.Asp80Asn	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701591G>A	gnomAD
rs1466900903	p.Ala81Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701594G>A	TOPMed
rs779923395	p.Ala82Glu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701598C>A	ExAC,TOPMed,gnomAD
rs1001987910	p.Ala82Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701597G>A	TOPMed
rs779923395	p.Ala82Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701598C>T	ExAC,TOPMed,gnomAD
rs768397514	p.His83Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701601A>G	ExAC,TOPMed,gnomAD
rs1367754683	p.Gly85Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701606G>A	gnomAD
rs1425530655	p.Leu87Phe	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701612C>T	gnomAD
rs771718316	p.Glu88Gln	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701615G>C	ExAC,gnomAD
rs760149629	p.Gln90Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701622A>G	ExAC,gnomAD
rs1280105309	p.Gln90His	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701623G>T	gnomAD
rs770001943	p.Gln92Ter	stop gained	-	CHR_HSCHR17_2_CTG5:g.46701627C>T	ExAC,gnomAD
rs775970973	p.Arg94Trp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701633C>T	ExAC,TOPMed,gnomAD
rs75199851	p.Arg94Gln	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701634G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs764444576	p.His95Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701637A>G	ExAC,TOPMed,gnomAD
rs761814917	p.Glu96Gly	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701640A>G	ExAC,TOPMed,gnomAD
rs751625191	p.Glu96Lys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701639G>A	ExAC,gnomAD
rs201223229	p.Arg97His	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701643G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1005356608	p.Arg97Cys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701642C>T	gnomAD
rs201223229	p.Arg97Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701643G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs766059492	p.Asn99Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701649A>G	ExAC,TOPMed,gnomAD
rs1387397358	p.Asn99Lys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701650C>A	gnomAD
rs753736943	p.Ser101Asn	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701655G>A	ExAC
rs557683872	p.Gly104Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701663G>A	1000Genomes,ExAC,gnomAD
rs145947242	p.Arg105Gly	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701666A>G	ESP,ExAC,TOPMed,gnomAD
rs1182092564	p.Arg105Lys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701667G>A	TOPMed
rs4968281	p.Met106Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701670T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs534003715	p.Met106Ile	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701671G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs4968281	p.Met106Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701670T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1329606333	p.Gly107Asp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701673G>A	TOPMed,gnomAD
rs1329606333	p.Gly107Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701673G>T	TOPMed,gnomAD
rs1418141548	p.Arg111Ile	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701685G>T	TOPMed,gnomAD
rs1186584056	p.Lys114Glu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704020A>G	TOPMed
rs751175581	p.Ala117Gly	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704030C>G	ExAC,gnomAD
rs761421453	p.Phe118Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704032T>C	ExAC,gnomAD
rs749969946	p.Ala121Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704041G>A	ExAC,gnomAD
rs375739988	p.Ala121Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704042C>T	ESP,ExAC,TOPMed,gnomAD
rs1392415275	p.Val122Ala	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704045T>C	gnomAD
rs1328620420	p.Ser123Cys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704048C>G	gnomAD
rs116126279	p.Ala126Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704056G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371468509	p.Thr130Asn	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704069C>A	ESP,ExAC,TOPMed,gnomAD
rs1242785878	p.Leu131Met	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704071C>A	TOPMed,gnomAD
rs1004684045	p.Arg133Trp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704077C>T	TOPMed
rs554846731	p.Arg133Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704078G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs554846731	p.Arg133Gln	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704078G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1302127442	p.Cys135Trp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704085C>G	TOPMed
rs1462515354	p.Ala137Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704090C>T	gnomAD
rs202125492	p.Ala137Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704089G>A	1000Genomes,ExAC,gnomAD
rs1421685695	p.Arg139Cys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704095C>T	gnomAD
rs774054853	p.Arg139Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704096G>T	ExAC,gnomAD
rs774054853	p.Arg139His	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704096G>A	ExAC,gnomAD
rs1267142310	p.Met140Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704098A>C	gnomAD
rs767136208	p.Met140Lys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704099T>A	ExAC,gnomAD
rs1170545290	p.Glu141Lys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704101G>A	gnomAD
rs1024072302	p.Arg142Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704105G>T	TOPMed,gnomAD
rs1024072302	p.Arg142His	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704105G>A	TOPMed,gnomAD
rs769660426	p.Arg142Cys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704104C>T	ExAC,TOPMed,gnomAD
rs765909398	p.Asp147Glu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704121C>G	ExAC,TOPMed,gnomAD
rs753150520	p.Ser148Phe	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704123C>T	ExAC,gnomAD
rs967098051	p.Pro149Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704126C>T	TOPMed,gnomAD
rs764485687	p.Gly150Glu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704129G>A	ExAC,TOPMed,gnomAD
rs149949310	p.Glu152Lys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704134G>A	ESP,ExAC,TOPMed,gnomAD
rs757486834	p.Ser153Ile	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704138G>T	ExAC,TOPMed,gnomAD
rs757486834	p.Ser153Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704138G>C	ExAC,TOPMed,gnomAD
rs756222047	p.Arg154Pro	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704141G>C	ExAC,TOPMed,gnomAD
rs746091846	p.Arg154Trp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704140C>T	ExAC,TOPMed,gnomAD
rs756222047	p.Arg154Gln	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704141G>A	ExAC,TOPMed,gnomAD
rs910262606	p.Trp159Cys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704157G>C	TOPMed
rs768544945	p.Trp159Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704155T>C	ExAC,gnomAD
rs149119515	p.Val161Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704161G>C	ESP,ExAC,TOPMed,gnomAD
rs1412072667	p.Val161Glu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704162T>A	TOPMed
rs149119515	p.Val161Met	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704161G>A	ESP,ExAC,TOPMed,gnomAD
rs1296121365	p.Cys162Gly	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704164T>G	TOPMed
rs772815552	p.Gly163Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704167G>A	ExAC,gnomAD
rs772815552	p.Gly163Cys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704167G>T	ExAC,gnomAD
rs1422190478	p.Asp164Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704171A>T	gnomAD
rs765849480	p.Ser169Asn	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704186G>A	ExAC,gnomAD
rs760338760	p.Ser169Gly	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704185A>G	ExAC,TOPMed,gnomAD
rs776156211	p.Thr170Ile	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704189C>T	ExAC,TOPMed,gnomAD
rs1399535819	p.Lys171Glu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704191A>G	gnomAD
rs1276383999	p.Phe172Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704196T>A	gnomAD
rs73987096	p.Ser174Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704202C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs764565715	p.Arg181Ile	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704222G>T	ExAC,gnomAD
rs370511554	p.Asn183Lys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704229C>A	ESP,ExAC,TOPMed,gnomAD
rs757496576	p.Lys184Asn	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704232G>C	ExAC,gnomAD
rs768024851	p.Asp185Asn	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704233G>A	ExAC,gnomAD
rs115421139	p.Asp185Glu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704235C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200104547	p.Arg187Trp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704239C>T	ExAC
rs1213829551	p.Arg187Gln	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704240G>A	TOPMed,gnomAD
rs1270343087	p.Ala188Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704242G>A	gnomAD
rs147677642	p.Arg189Gly	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704245C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs568737032	p.Arg189Gln	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704246G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs147677642	p.Arg189Trp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704245C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs568737032	p.Arg189Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704246G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1431848216	p.Ala190Glu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704249C>A	gnomAD
rs1431848216	p.Ala190Gly	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704249C>G	gnomAD
rs142428656	p.Asp191Glu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704253C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs188845108	p.Ala192Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704254G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1419261201	p.His193Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704258A>G	gnomAD
rs746637340	p.Asn194Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704261A>G	ExAC,TOPMed,gnomAD
rs770639789	p.Thr195Ala	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704263A>G	ExAC,gnomAD
rs201480547	p.Val197Met	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704269G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201480547	p.Val197Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704269G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1365381549	p.Gly198Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704273G>T	gnomAD
rs1365381549	p.Gly198Asp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704273G>A	gnomAD
rs762405316	p.Ile199Met	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704277C>G	ExAC,TOPMed,gnomAD
rs1399426717	p.Val202Met	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705162G>A	gnomAD
rs1338447518	p.Ser204Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705170T>G	gnomAD
rs148340304	p.Ser204Asn	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705169G>A	ESP,ExAC,TOPMed,gnomAD
rs752892527	p.Thr209Met	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705184C>T	ExAC,TOPMed,gnomAD
rs781063224	p.Val215Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705201G>C	ExAC,TOPMed,gnomAD
rs781063224	p.Val215Ile	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705201G>A	ExAC,TOPMed,gnomAD
rs1259325946	p.Val215Ala	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705202T>C	gnomAD
rs372115656	p.Val221Met	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705219G>A	ESP,ExAC,TOPMed,gnomAD
rs138314634	p.Arg222His	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705223G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs773812928	p.Arg222Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705222C>A	ExAC,gnomAD
rs138314634	p.Arg222Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705223G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs773812928	p.Arg222Cys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705222C>T	ExAC,gnomAD
rs777098128	p.Thr223Ile	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705226C>T	ExAC,gnomAD
rs1422908876	p.Cys224Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705228T>A	gnomAD
rs759676285	p.Gln227His	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705239G>C	ExAC,gnomAD
rs1295884388	p.Gln227Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705238A>G	TOPMed
rs765555952	p.Pro230Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705247C>G	ExAC,TOPMed,gnomAD
rs765555952	p.Pro230Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705247C>T	ExAC,TOPMed,gnomAD
rs376925107	p.Arg232Pro	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705253G>C	ESP,ExAC,TOPMed,gnomAD
rs1413589890	p.Arg232Cys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705252C>T	gnomAD
rs376925107	p.Arg232His	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705253G>A	ESP,ExAC,TOPMed,gnomAD
rs139124897	p.Thr234Met	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705259C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs913178601	p.Arg241Cys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705279C>T	TOPMed,gnomAD
rs138530379	p.Arg241His	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705280G>A	ESP,ExAC,TOPMed,gnomAD
rs115163288	p.Ser244Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705289C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs115163288	p.Ser244Trp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705289C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1200217714	p.Ala245Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705291G>T	gnomAD
rs748976950	p.Val246Ile	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705294G>A	ExAC,gnomAD
rs748976950	p.Val246Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705294G>C	ExAC,gnomAD
rs1245476858	p.Val248Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705300G>T	TOPMed
rs778611375	p.Ala251Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705310C>T	ExAC,TOPMed,gnomAD
rs1269239953	p.Glu254Gly	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705319A>G	TOPMed
rs771539878	p.Arg258Cys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705330C>T	ExAC,TOPMed,gnomAD
rs149931425	p.Arg258His	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705331G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149931425	p.Arg258Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705331G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1390279271	p.Glu260Gln	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705336G>C	TOPMed
rs770061645	p.Trp262Cys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705344G>T	ExAC,gnomAD
rs564435829	p.Ala263Gly	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705346C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs564435829	p.Ala263Asp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705346C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs763186608	p.Ala265Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705352C>T	ExAC,gnomAD
rs368406991	p.Gln267His	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705359G>C	ESP,ExAC,gnomAD
rs533419961	p.Gly268Asp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705361G>A	1000Genomes,gnomAD
rs1450443579	p.Ser269Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705364G>C	TOPMed
rs1233061377	p.Thr271Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705370C>G	gnomAD
rs142604963	p.Thr271Ala	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705369A>G	ESP,ExAC,TOPMed,gnomAD
rs755897150	p.Ala275Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705382C>T	ExAC,TOPMed,gnomAD
rs750331067	p.Ala275Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705381G>A	ExAC,gnomAD
rs766108370	p.Arg277Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705389G>C	ExAC,gnomAD
rs1268042201	p.Ser278Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705390T>A	gnomAD
rs1196489495	p.Tyr283Asn	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705405T>A	gnomAD
rs886733407	p.Met284Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705408A>G	TOPMed
rs1439951991	p.Met284Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705409T>C	gnomAD
rs1182286577	p.Pro288Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705421C>T	TOPMed
rs754714809	p.Ser289Asn	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705424G>A	ExAC,TOPMed,gnomAD
rs139617595	p.Arg292Gln	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705433G>A	ESP,ExAC,TOPMed,gnomAD
rs778566187	p.Arg292Trp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705432C>T	ExAC,TOPMed,gnomAD
rs781676873	p.Pro293Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705435C>T	ExAC,gnomAD
rs770148152	p.Ser294Asn	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705439G>A	ExAC,gnomAD
rs1447945897	p.Tyr296His	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705444T>C	gnomAD
rs1258557774	p.Ser297Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705448C>T	TOPMed
rs749481197	p.Pro298Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705450C>T	ExAC,gnomAD
rs1239051089	p.Pro298Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705451C>T	TOPMed
rs768924139	p.Arg303Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705467G>T	ExAC
rs1351772149	p.Cys305Tyr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705472G>A	gnomAD
rs1035869031	p.Cys305Ter	stop gained	-	CHR_HSCHR17_2_CTG5:g.46705473C>A	TOPMed
rs1243156507	p.Ser306Tyr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705475C>A	TOPMed
rs528217802	p.Arg307Gln	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705478G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs146452687	p.Arg307Trp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705477C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs772073215	p.Glu308Gly	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705481A>G	ExAC,gnomAD
rs1252538009	p.Ser310Asn	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705487G>A	gnomAD
rs773150977	p.Ser310Gly	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705486A>G	ExAC,gnomAD
rs1383675976	p.Cys311Tyr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705490G>A	TOPMed
rs760575637	p.Ser313Ile	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705496G>T	ExAC,gnomAD
rs753748759	p.Gly317Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705507G>C	ExAC,TOPMed,gnomAD
rs753748759	p.Gly317Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705507G>A	ExAC,TOPMed,gnomAD
rs759252167	p.Arg318Trp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705510C>T	ExAC,TOPMed,gnomAD
rs375590479	p.Arg318Gln	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705511G>A	ESP,ExAC,TOPMed,gnomAD
rs375590479	p.Arg318Pro	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705511G>C	ESP,ExAC,TOPMed,gnomAD
rs1457871744	p.Tyr320Cys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705517A>G	gnomAD
rs548293670	p.Thr322Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705523C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs777170957	p.Ser324Gly	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705528A>G	ExAC,gnomAD
rs756619453	p.Arg325Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705532G>T	ExAC,TOPMed,gnomAD
rs756619453	p.Arg325His	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705532G>A	ExAC,TOPMed,gnomAD
rs369957679	p.Arg325Cys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705531C>T	ESP,ExAC,TOPMed,gnomAD
rs779065433	p.Ala328Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705541C>T	ExAC,gnomAD
rs769012279	p.Ala328Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705540G>T	ExAC,gnomAD
rs201736628	p.Ser330Pro	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705546T>C	ExAC,gnomAD
rs1490394741	p.Ser330Cys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705547C>G	TOPMed
rs1293520975	p.His332Tyr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705552C>T	TOPMed
rs1182041002	p.Cys333Phe	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705556G>T	gnomAD
rs760652296	p.Gln334His	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705560G>C	ExAC,gnomAD
rs773201960	p.Gln334Ter	stop gained	-	CHR_HSCHR17_2_CTG5:g.46705558C>T	ExAC,gnomAD
rs1478398924	p.Gln336Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705565A>G	gnomAD
rs1426495015	p.Gln336Ter	stop gained	-	CHR_HSCHR17_2_CTG5:g.46705564C>T	gnomAD
rs1219572383	p.Trp337Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705567T>C	TOPMed
rs1334112263	p.Tyr340Cys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705577A>G	gnomAD
rs144564507	p.Val341Met	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705579G>A	1000Genomes,ESP,ExAC,gnomAD
rs1360393862	p.Glu342Lys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705582G>A	gnomAD
rs369515545	p.Cys343Ter	stop gained	-	CHR_HSCHR17_2_CTG5:g.46705587C>A	ESP,ExAC,TOPMed,gnomAD
rs762563952	p.Gln348His	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705602G>T	ExAC,TOPMed,gnomAD
rs1229600520	p.Glu349Lys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705603G>A	TOPMed
rs751098377	p.Glu349Gly	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705604A>G	ExAC
rs147655057	p.Leu351Pro	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705610T>C	ESP,ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0005689	Bladder Exstrophy	disease	BEFREE
C0042769	Virus Diseases	group	BEFREE
C0158646	Cleft palate with cleft lip	disease	BEFREE
C1698581	Rokitansky Kuster Hauser syndrome	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005109	frizzled binding	IBA
GO:0039706	co-receptor binding	IEA
GO:0048018	receptor ligand activity	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001658	branching involved in ureteric bud morphogenesis	IEA
GO:0001701	in utero embryonic development	IEA
GO:0001932	regulation of protein phosphorylation	IEA
GO:0003339	regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis	IEA
GO:0007267	cell-cell signaling	NAS
GO:0007275	multicellular organism development	NAS
GO:0009267	cellular response to starvation	IEA
GO:0009786	regulation of asymmetric cell division	IEA
GO:0016055	Wnt signaling pathway	IBA
GO:0016055	Wnt signaling pathway	TAS
GO:0030182	neuron differentiation	ISS
GO:0030182	neuron differentiation	IBA
GO:0030539	male genitalia development	IEA
GO:0032526	response to retinoic acid	NAS
GO:0035150	regulation of tube size	IEA
GO:0043085	positive regulation of catalytic activity	IEA
GO:0045165	cell fate commitment	IBA
GO:0048701	embryonic cranial skeleton morphogenesis	IEA
GO:0060021	roof of mouth development	IEA
GO:0060070	canonical Wnt signaling pathway	IDA
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	IEA
GO:0061038	uterus morphogenesis	IEA
GO:0061303	cornea development in camera-type eye	ISS
GO:0071300	cellular response to retinoic acid	ISS
GO:0072003	kidney rudiment formation	IEA
GO:0072038	mesenchymal stem cell maintenance involved in nephron morphogenesis	IEA
GO:0072044	collecting duct development	IEA
GO:0072046	establishment of planar polarity involved in nephron morphogenesis	IEA
GO:0072174	metanephric tubule formation	IEA
GO:0072181	mesonephric duct formation	IEA
GO:1902455	negative regulation of stem cell population maintenance	IMP
GO:1904948	midbrain dopaminergic neuron differentiation	IMP
GO:1905438	non-canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	NAS
GO:0005576	extracellular region	TAS
GO:0005615	extracellular space	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-162582	Signal Transduction	IEA
R-HSA-195721	Signaling by WNT	TAS
R-HSA-195721	Signaling by WNT	IEA
R-HSA-3238698	WNT ligand biogenesis and trafficking	TAS
R-HSA-3238698	WNT ligand biogenesis and trafficking	IEA
R-HSA-372790	Signaling by GPCR	IEA
R-HSA-373080	Class B/2 (Secretin family receptors)	IEA
R-HSA-500792	GPCR ligand binding	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of WNT9B 3' UTR	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene promotes the reaction [AHR protein binds to WNT9B promoter]	19654925
C006780	bisphenol A	bisphenol A results in decreased expression of WNT9B mRNA	25181051
C027561	butylbenzyl phthalate	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate co-treated with diisononyl phthalate co-treated with diisobutyl phthalate co-treated with butylbenzyl phthalate] results in decreased expression of WNT9B mRNA	31199487
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of WNT9B mRNA	20478370
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of WNT9B mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of WNT9B mRNA]	31150632
D004390	Chlorpyrifos	Chlorpyrifos results in decreased expression of WNT9B mRNA	18502319
D003042	Cocaine	Cocaine results in decreased expression of WNT9B mRNA	27899881
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of WNT9B mRNA]	27941970
D003976	Diazinon	Diazinon affects the expression of WNT9B mRNA	19130878
D003976	Diazinon	Diazinon results in decreased expression of WNT9B mRNA	18502319
D003993	Dibutyl Phthalate	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate co-treated with diisononyl phthalate co-treated with diisobutyl phthalate co-treated with butylbenzyl phthalate] results in decreased expression of WNT9B mRNA	31199487
D003999	Dichloroacetic Acid	Dichloroacetic Acid results in decreased expression of WNT9B mRNA	28962523
D004026	Dieldrin	Dieldrin affects the expression of WNT9B mRNA	19130878
D004051	Diethylhexyl Phthalate	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate co-treated with diisononyl phthalate co-treated with diisobutyl phthalate co-treated with butylbenzyl phthalate] results in decreased expression of WNT9B mRNA	31199487
C007379	diethyl phthalate	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate co-treated with diisononyl phthalate co-treated with diisobutyl phthalate co-treated with butylbenzyl phthalate] results in decreased expression of WNT9B mRNA	31199487
C025605	diisobutyl phthalate	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate co-treated with diisononyl phthalate co-treated with diisobutyl phthalate co-treated with butylbenzyl phthalate] results in decreased expression of WNT9B mRNA	31199487
C012125	diisononyl phthalate	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate co-treated with diisononyl phthalate co-treated with diisobutyl phthalate co-treated with butylbenzyl phthalate] results in decreased expression of WNT9B mRNA	31199487
D060766	Drinking Water	Drinking Water results in decreased expression of WNT9B mRNA	19444861
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of WNT9B mRNA	23129252
D005492	Folic Acid	[Folic Acid co-treated with sodium arsenite] results in increased methylation of WNT9B mRNA	22959928
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of WNT9B mRNA	25620056
D009532	Nickel	Nickel affects the expression of WNT9B mRNA	19130878
D010575	Pesticides	Pesticides results in decreased methylation of WNT9B gene	28396702
D010936	Plant Extracts	Plant Extracts results in decreased expression of WNT9B mRNA	23557933
C005556	propionaldehyde	propionaldehyde results in decreased expression of WNT9B mRNA	26079696
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of WNT9B mRNA]	31150632
C017947	sodium arsenite	[Folic Acid co-treated with sodium arsenite] results in increased methylation of WNT9B mRNA	22959928
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of WNT9B gene	25560391
D014873	Water Pollutants	Water Pollutants results in decreased expression of WNT9B mRNA	23591932

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0217	Developmental protein
KW-1015	Disulfide bond
KW-0272	Extracellular matrix
KW-0325	Glycoprotein
KW-0449	Lipoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal
KW-0879	Wnt signaling pathway

Interpro

InterPro ID	InterPro Term
IPR005817	Wnt
IPR026535	WNT9B
IPR043158	Wnt_C
IPR018161	Wnt_CS

PROSITE

PROSITE ID	PROSITE Term
PS00246	WNT1

Pfam

Pfam ID	Pfam Term
PF00110	wnt

Gene: WNT9B

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

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction