CleftGeneDB-Search

Gene: FZD6

Basic information

Tag	Content
Uniprot ID	O60353; B4DRN0; Q6N0A5; Q6P9C3; Q8WXR9;
Entrez ID	8323
Genbank protein ID	CAE45715.1; BAA25686.1; BAC05925.1; AAH60836.2; AAD41637.1; EAW91867.1; BAG61342.1; AAL50384.1;
Genbank nucleotide ID	NM_003506.3; NM_001164615.1; NM_001164616.1; NM_001317796.1;
Ensembl protein ID	ENSP00000351605; ENSP00000429055; ENSP00000429528;
Ensembl nucleotide ID	ENSG00000164930
Gene name	Frizzled-6
Gene symbol	FZD6
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CL/P
Developmental stage
Data sources	Manually collected
Reference	26436110
Functional description	Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues. Together with FZD3, is involved in the neural tube closure and plays a role in the regulation of the establishment of planar cell polarity (PCP), particularly in the orientation of asymmetric bundles of stereocilia on the apical faces of a subset of auditory and vestibular sensory cells located in the inner ear (By similarity).
Sequence	MEMFTFLLTC IFLPLLRGHS LFTCEPITVP RCMKMAYNMT FFPNLMGHYD QSIAAVEMEH 60 FLPLANLECS PNIETFLCKA FVPTCIEQIH VVPPCRKLCE KVYSDCKKLI DTFGIRWPEE 120 LECDRLQYCD ETVPVTFDPH TEFLGPQKKT EQVQRDIGFW CPRHLKTSGG QGYKFLGIDQ 180 CAPPCPNMYF KSDELEFAKS FIGTVSIFCL CATLFTFLTF LIDVRRFRYP ERPIIYYSVC 240 YSIVSLMYFI GFLLGDSTAC NKADEKLELG DTVVLGSQNK ACTVLFMLLY FFTMAGTVWW 300 VILTITWFLA AGRKWSCEAI EQKAVWFHAV AWGTPGFLTV MLLAMNKVEG DNISGVCFVG 360 LYDLDASRYF VLLPLCLCVF VGLSLLLAGI ISLNHVRQVI QHDGRNQEKL KKFMIRIGVF 420 SGLYLVPLVT LLGCYVYEQV NRITWEITWV SDHCRQYHIP CPYQAKAKAR PELALFMIKY 480 LMTLIVGISA VFWVGSKKTC TEWAGFFKRN RKRDPISESR RVLQESCEFF LKHNSKVKHK 540 KKHYKPSSHK LKVISKSMGT STGATANHGT SAVAITSHDY LGQETLTEIQ TSPETSMREV 600 KADGASTPRL REQDCGEPAS PAASISRLSG EQVDGKGQAG SVSESARSEG RISPKSDITD 660 TGLAQSNNLQ VPSSSEPSSL KGSTSLLVHP VSGVRKEQGG GCHSDT 706

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	Developmental stage	Species	Evidence	Details
1:1 ortholog	FZD6	403610	F1P9V1			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	FZD6		A0A452EZH8			Capra hircus	Prediction	More>>
1:1 ortholog	FZD6	8323	O60353	CL/P		Homo sapiens	Publication	More>>
1:1 ortholog	Fzd6	14368	Q61089		E14.5	Mus musculus	Prediction	More>>
1:1 ortholog	FZD6	464327	H2R2C6			Pan troglodytes	Prediction	More>>
1:1 ortholog	FZD6		F1S0R5			Sus scrofa	Prediction	More>>
1:1 ortholog	FZD6	100344394	G1SWP7			Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Fzd6	282581	G3V6L1			Rattus norvegicus	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
FZD6	rs138557689; c.-153+432A>C	Targeted sequencing; PCR;WES	26436110
FZD6	c.1A>G; p.Met1 (homozygous)	WES and Sanger sequencing	32884998

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1210913676	p.Glu2Gly	missense variant	-	NC_000008.11:g.103300112A>G	gnomAD
rs748362787	p.Met3Val	missense variant	-	NC_000008.11:g.103300114A>G	ExAC,gnomAD
rs1210122452	p.Met3Ile	missense variant	-	NC_000008.11:g.103300116G>A	TOPMed
rs1331820142	p.Phe4Cys	missense variant	-	NC_000008.11:g.103300118T>G	TOPMed
rs1223505061	p.Phe6Ile	missense variant	-	NC_000008.11:g.103300123T>A	TOPMed
NCI-TCGA novel	p.Phe6Leu	missense variant	-	NC_000008.11:g.103300125T>G	NCI-TCGA
rs754581593	p.Thr9Met	missense variant	-	NC_000008.11:g.103300133C>T	ExAC,TOPMed
rs1198557940	p.Cys10Gly	missense variant	-	NC_000008.11:g.103300135T>G	gnomAD
rs770928662	p.Ile11Phe	missense variant	-	NC_000008.11:g.103300138A>T	ExAC
NCI-TCGA novel	p.Ile11Val	missense variant	-	NC_000008.11:g.103300138A>G	NCI-TCGA
COSM1094458	p.Leu13Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103300144C>G	NCI-TCGA Cosmic
rs1428125576	p.Pro14Leu	missense variant	-	NC_000008.11:g.103300148C>T	gnomAD
rs774093482	p.Leu15Ile	missense variant	-	NC_000008.11:g.103300150C>A	ExAC,gnomAD
rs117477069	p.Leu16Val	missense variant	-	NC_000008.11:g.103300153C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375688505	p.Ser20Thr	missense variant	-	NC_000008.11:g.103300166G>C	ESP,gnomAD
rs375688505	p.Ser20Asn	missense variant	-	NC_000008.11:g.103300166G>A	ESP,gnomAD
rs372702981	p.Ser20Cys	missense variant	-	NC_000008.11:g.103300165A>T	ESP,ExAC,gnomAD
rs760374585	p.Thr23Ile	missense variant	-	NC_000008.11:g.103300175C>T	ExAC,gnomAD
rs150839394	p.Val29Phe	missense variant	-	NC_000008.11:g.103300192G>T	ESP,ExAC,TOPMed,gnomAD
rs150839394	p.Val29Ile	missense variant	-	NC_000008.11:g.103300192G>A	ESP,ExAC,TOPMed,gnomAD
rs568034251	p.Arg31Ser	missense variant	-	NC_000008.11:g.103300200A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1214604944	p.Arg31Lys	missense variant	-	NC_000008.11:g.103300199G>A	TOPMed,gnomAD
rs752048729	p.Cys32Tyr	missense variant	-	NC_000008.11:g.103300202G>A	ExAC,TOPMed,gnomAD
rs752048729	p.Cys32Phe	missense variant	-	NC_000008.11:g.103300202G>T	ExAC,TOPMed,gnomAD
rs827528	p.Met33Val	missense variant	-	NC_000008.11:g.103300204A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs827528	p.Met33Val	missense variant	-	NC_000008.11:g.103300204A>G	UniProt,dbSNP
VAR_047440	p.Met33Val	missense variant	-	NC_000008.11:g.103300204A>G	UniProt
rs374556380	p.Met33Ile	missense variant	-	NC_000008.11:g.103300206G>A	ESP,ExAC,TOPMed,gnomAD
rs827528	p.Met33Leu	missense variant	-	NC_000008.11:g.103300204A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs111920622	p.Lys34Thr	missense variant	-	NC_000008.11:g.103300208A>C	TOPMed
rs970993467	p.Lys34Gln	missense variant	-	NC_000008.11:g.103300207A>C	TOPMed
rs1463161138	p.Ala36Ser	missense variant	-	NC_000008.11:g.103300213G>T	TOPMed
rs752962628	p.Asn38Ser	missense variant	-	NC_000008.11:g.103300220A>G	ExAC,TOPMed,gnomAD
rs1322899571	p.Met39Thr	missense variant	-	NC_000008.11:g.103300223T>C	TOPMed
rs1292467728	p.Phe42Ser	missense variant	-	NC_000008.11:g.103300232T>C	TOPMed
COSM1453719	p.Phe42SerPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.103300228T>-	NCI-TCGA Cosmic
COSM3884263	p.Asn44Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103300237A>G	NCI-TCGA Cosmic
rs553335677	p.Asn44Ser	missense variant	-	NC_000008.11:g.103300238A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Met46Ile	missense variant	-	NC_000008.11:g.103300245G>T	NCI-TCGA
rs1360566064	p.Gly47Ser	missense variant	-	NC_000008.11:g.103300246G>A	gnomAD
rs777814122	p.His48Leu	missense variant	-	NC_000008.11:g.103300250A>T	ExAC,gnomAD
rs1300823391	p.Gln51Arg	missense variant	-	NC_000008.11:g.103300259A>G	gnomAD
rs757230055	p.Ser52Asn	missense variant	-	NC_000008.11:g.103300262G>A	ExAC,gnomAD
rs753953103	p.Ser52Gly	missense variant	-	NC_000008.11:g.103300261A>G	ExAC,gnomAD
rs1348502085	p.Ile53Val	missense variant	-	NC_000008.11:g.103300264A>G	gnomAD
rs779056600	p.Ile53Ser	missense variant	-	NC_000008.11:g.103300265T>G	ExAC,TOPMed,gnomAD
rs571735437	p.Ala55Val	missense variant	-	NC_000008.11:g.103300271C>T	1000Genomes,ExAC,gnomAD
rs1298616697	p.Ala55Thr	missense variant	-	NC_000008.11:g.103300270G>A	TOPMed
rs780099524	p.His60Tyr	missense variant	-	NC_000008.11:g.103318590C>T	ExAC,TOPMed,gnomAD
rs780099524	p.His60Asp	missense variant	-	NC_000008.11:g.103318590C>G	ExAC,TOPMed,gnomAD
rs146283758	p.Phe61Ser	missense variant	-	NC_000008.11:g.103318594T>C	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Leu62Ile	missense variant	-	NC_000008.11:g.103318596C>A	NCI-TCGA
rs1487776894	p.Leu64Phe	missense variant	-	NC_000008.11:g.103318602C>T	gnomAD
NCI-TCGA novel	p.Leu64Val	missense variant	-	NC_000008.11:g.103318602C>G	NCI-TCGA
rs375098302	p.Ala65Thr	missense variant	-	NC_000008.11:g.103318605G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn66His	missense variant	-	NC_000008.11:g.103318608A>C	NCI-TCGA
rs762407732	p.Pro71Leu	missense variant	-	NC_000008.11:g.103318624C>T	ExAC,gnomAD
rs772568156	p.Ile73Val	missense variant	-	NC_000008.11:g.103318629A>G	ExAC,gnomAD
rs772568156	p.Ile73Phe	missense variant	-	NC_000008.11:g.103318629A>T	ExAC,gnomAD
rs775914993	p.Ile73Thr	missense variant	-	NC_000008.11:g.103318630T>C	ExAC,gnomAD
NCI-TCGA novel	p.Phe76Leu	missense variant	-	NC_000008.11:g.103318638T>C	NCI-TCGA
rs1357409316	p.Lys79Glu	missense variant	-	NC_000008.11:g.103318647A>G	TOPMed
NCI-TCGA novel	p.Ala80Thr	missense variant	-	NC_000008.11:g.103318650G>A	NCI-TCGA
rs1287392567	p.Val82Leu	missense variant	-	NC_000008.11:g.103318656G>C	TOPMed,gnomAD
COSM3884264	p.Val82Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103318657T>C	NCI-TCGA Cosmic
rs1049206443	p.Cys85Tyr	missense variant	-	NC_000008.11:g.103318666G>A	TOPMed
rs776955040	p.Ile86Leu	missense variant	-	NC_000008.11:g.103318668A>C	ExAC,TOPMed,gnomAD
rs776955040	p.Ile86Val	missense variant	-	NC_000008.11:g.103318668A>G	ExAC,TOPMed,gnomAD
rs761922015	p.Gln88Glu	missense variant	-	NC_000008.11:g.103318674C>G	ExAC,TOPMed,gnomAD
rs943636809	p.Gln88Pro	missense variant	-	NC_000008.11:g.103318675A>C	TOPMed
rs765509501	p.Val92Leu	missense variant	-	NC_000008.11:g.103318686G>C	ExAC,TOPMed,gnomAD
rs750564903	p.Pro94Ser	missense variant	-	NC_000008.11:g.103318692C>T	ExAC,gnomAD
rs534988999	p.Pro94Leu	missense variant	-	NC_000008.11:g.103318693C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs766434022	p.Arg96His	missense variant	-	NC_000008.11:g.103318699G>A	ExAC,TOPMed,gnomAD
rs981045005	p.Arg96Cys	missense variant	-	NC_000008.11:g.103318698C>T	gnomAD
RCV000593548	p.Arg96Cys	missense variant	-	NC_000008.11:g.103318698C>T	ClinVar
rs1487285963	p.Lys97Arg	missense variant	-	NC_000008.11:g.103318702A>G	gnomAD
rs1267735158	p.Leu98Phe	missense variant	-	NC_000008.11:g.103318704C>T	gnomAD
rs754842098	p.Leu98His	missense variant	-	NC_000008.11:g.103318705T>A	ExAC,gnomAD
rs780825596	p.Cys99Arg	missense variant	-	NC_000008.11:g.103318707T>C	ExAC,gnomAD
rs747924397	p.Glu100Ter	stop gained	-	NC_000008.11:g.103318710G>T	ExAC,gnomAD
rs755791699	p.Glu100Gly	missense variant	-	NC_000008.11:g.103318711A>G	ExAC,gnomAD
rs777335863	p.Lys101Arg	missense variant	-	NC_000008.11:g.103318714A>G	ExAC,gnomAD
rs748806283	p.Lys101Asn	missense variant	-	NC_000008.11:g.103318715A>C	ExAC,gnomAD
rs1415526913	p.Ser104Phe	missense variant	-	NC_000008.11:g.103318723C>T	TOPMed
rs770418746	p.Leu109Val	missense variant	-	NC_000008.11:g.103318737T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu109Ter	stop gained	-	NC_000008.11:g.103318738T>A	NCI-TCGA
NCI-TCGA novel	p.Leu109Ter	stop gained	-	NC_000008.11:g.103318738T>G	NCI-TCGA
rs776136233	p.Ile110Phe	missense variant	-	NC_000008.11:g.103318740A>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp111Asn	missense variant	-	NC_000008.11:g.103318743G>A	NCI-TCGA
rs952870905	p.Thr112Asn	missense variant	-	NC_000008.11:g.103318747C>A	TOPMed,gnomAD
rs747445291	p.Ile115Ser	missense variant	-	NC_000008.11:g.103318756T>G	ExAC,TOPMed,gnomAD
RCV000578928	p.Arg116Ter	nonsense	-	NC_000008.11:g.103318758C>T	ClinVar
rs769116796	p.Arg116Ter	stop gained	-	NC_000008.11:g.103318758C>T	ExAC,TOPMed,gnomAD
rs1466686516	p.Arg116Gln	missense variant	-	NC_000008.11:g.103318759G>A	TOPMed
rs760023367	p.Trp117Arg	missense variant	-	NC_000008.11:g.103318761T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro118His	missense variant	-	NC_000008.11:g.103318765C>A	NCI-TCGA
rs762230921	p.Glu120Asp	missense variant	-	NC_000008.11:g.103318772G>T	ExAC,gnomAD
rs1452349213	p.Leu121Ile	missense variant	-	NC_000008.11:g.103318773C>A	TOPMed
rs1319580028	p.Glu122Gln	missense variant	-	NC_000008.11:g.103318776G>C	gnomAD
rs939650828	p.Glu122Ala	missense variant	-	NC_000008.11:g.103318777A>C	TOPMed,gnomAD
rs765560923	p.Asp124Gly	missense variant	-	NC_000008.11:g.103318783A>G	ExAC,TOPMed,gnomAD
rs149943553	p.Gln127Arg	missense variant	-	NC_000008.11:g.103324486A>G	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr128Cys	missense variant	-	NC_000008.11:g.103324489A>G	NCI-TCGA
rs371495168	p.Cys129Ter	stop gained	-	NC_000008.11:g.103324493T>A	ESP,ExAC,gnomAD
rs767365157	p.Cys129Gly	missense variant	-	NC_000008.11:g.103324491T>G	ExAC,gnomAD
NCI-TCGA novel	p.Cys129Tyr	missense variant	-	NC_000008.11:g.103324492G>A	NCI-TCGA
rs1466609347	p.Asp130Gly	missense variant	-	NC_000008.11:g.103324495A>G	gnomAD
rs760533281	p.Asp130Glu	missense variant	-	NC_000008.11:g.103324496T>A	ExAC,TOPMed,gnomAD
rs1397980291	p.Thr132Ala	missense variant	-	NC_000008.11:g.103324500A>G	TOPMed
rs564497180	p.Val133Ala	missense variant	-	NC_000008.11:g.103324504T>C	1000Genomes,ExAC,gnomAD
rs935109876	p.Pro134Ala	missense variant	-	NC_000008.11:g.103324506C>G	gnomAD
rs377272890	p.Phe137Ser	missense variant	-	NC_000008.11:g.103324516T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe137Ter	frameshift	-	NC_000008.11:g.103324514_103324515TT>-	NCI-TCGA
rs80216383	p.His140Tyr	missense variant	-	NC_000008.11:g.103324524C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs80216383	p.His140Tyr	missense variant	-	NC_000008.11:g.103324524C>T	UniProt,dbSNP
VAR_066963	p.His140Tyr	missense variant	-	NC_000008.11:g.103324524C>T	UniProt
NCI-TCGA novel	p.Glu142Ter	stop gained	-	NC_000008.11:g.103324530G>T	NCI-TCGA
rs778588461	p.Pro146Ser	missense variant	-	NC_000008.11:g.103324542C>T	ExAC,gnomAD
rs749906371	p.Pro146Leu	missense variant	-	NC_000008.11:g.103324543C>T	ExAC,TOPMed,gnomAD
rs1276485475	p.Lys148Thr	missense variant	-	NC_000008.11:g.103324549A>C	TOPMed,gnomAD
rs768203511	p.Lys148Glu	missense variant	-	NC_000008.11:g.103324548A>G	ExAC,gnomAD
rs1438660101	p.Lys149Ile	missense variant	-	NC_000008.11:g.103324552A>T	TOPMed
NCI-TCGA novel	p.Thr150Ile	missense variant	-	NC_000008.11:g.103324555C>T	NCI-TCGA
rs781609213	p.Glu151Asp	missense variant	-	NC_000008.11:g.103324559A>C	ExAC,TOPMed,gnomAD
rs1310126701	p.Glu151Val	missense variant	-	NC_000008.11:g.103324558A>T	TOPMed,gnomAD
rs61753730	p.Gln152Glu	missense variant	-	NC_000008.11:g.103324560C>G	UniProt,dbSNP
VAR_066964	p.Gln152Glu	missense variant	-	NC_000008.11:g.103324560C>G	UniProt
rs61753730	p.Gln152Glu	missense variant	-	NC_000008.11:g.103324560C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770330304	p.Val153Ile	missense variant	-	NC_000008.11:g.103324563G>A	ExAC,TOPMed,gnomAD
rs1486796562	p.Val153Gly	missense variant	-	NC_000008.11:g.103324564T>G	gnomAD
NCI-TCGA novel	p.Arg155Lys	missense variant	-	NC_000008.11:g.103324570G>A	NCI-TCGA
rs749629030	p.Asp156His	missense variant	-	NC_000008.11:g.103324572G>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp156Tyr	missense variant	-	NC_000008.11:g.103324572G>T	NCI-TCGA
rs1170004620	p.Pro162Leu	missense variant	-	NC_000008.11:g.103324591C>T	gnomAD
rs771059227	p.Pro162Ala	missense variant	-	NC_000008.11:g.103324590C>G	ExAC,gnomAD
rs1414381279	p.Arg163Gly	missense variant	-	NC_000008.11:g.103324593A>G	gnomAD
rs774570399	p.His164Arg	missense variant	-	NC_000008.11:g.103324597A>G	ExAC,TOPMed,gnomAD
rs928048347	p.Leu165Phe	missense variant	-	NC_000008.11:g.103324599C>T	TOPMed
NCI-TCGA novel	p.Leu165Val	missense variant	-	NC_000008.11:g.103324599C>G	NCI-TCGA
rs772185760	p.Ser168Pro	missense variant	-	NC_000008.11:g.103324608T>C	ExAC
rs529849844	p.Gly169Arg	missense variant	-	NC_000008.11:g.103324611G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs529849844	p.Gly169Arg	missense variant	-	NC_000008.11:g.103324611G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs753667894	p.Gly170Ala	missense variant	-	NC_000008.11:g.103324615G>C	ExAC,gnomAD
rs753667894	p.Gly170Val	missense variant	-	NC_000008.11:g.103324615G>T	ExAC,gnomAD
rs753667894	p.Gly170Glu	missense variant	-	NC_000008.11:g.103324615G>A	ExAC,gnomAD
rs376449974	p.Gln171Arg	missense variant	-	NC_000008.11:g.103324618A>G	ESP
rs548106295	p.Tyr173Cys	missense variant	-	NC_000008.11:g.103324624A>G	1000Genomes,TOPMed,gnomAD
rs764810706	p.Lys174Glu	missense variant	-	NC_000008.11:g.103324626A>G	ExAC,gnomAD
rs750079022	p.Leu176Arg	missense variant	-	NC_000008.11:g.103324633T>G	ExAC,gnomAD
rs1219701399	p.Gly177Arg	missense variant	-	NC_000008.11:g.103324635G>A	gnomAD
rs142125344	p.Asp179Asn	missense variant	-	NC_000008.11:g.103324641G>A	ESP
NCI-TCGA novel	p.Gln180Leu	missense variant	-	NC_000008.11:g.103324645A>T	NCI-TCGA
rs757914216	p.Cys181Ser	missense variant	-	NC_000008.11:g.103324647T>A	ExAC,gnomAD
rs751062369	p.Ala182Val	missense variant	-	NC_000008.11:g.103324651C>T	ExAC,TOPMed,gnomAD
rs147788385	p.Ala182Thr	missense variant	-	NC_000008.11:g.103324650G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778357612	p.Asn187Ser	missense variant	-	NC_000008.11:g.103324666A>G	ExAC,gnomAD
rs931241044	p.Met188Thr	missense variant	-	NC_000008.11:g.103324669T>C	TOPMed
NCI-TCGA novel	p.Met188Ile	missense variant	-	NC_000008.11:g.103324670G>A	NCI-TCGA
rs749679944	p.Phe190Leu	missense variant	-	NC_000008.11:g.103324676T>A	ExAC,gnomAD
rs771311097	p.Asp193His	missense variant	-	NC_000008.11:g.103324683G>C	ExAC,gnomAD
rs779068115	p.Asp193Val	missense variant	-	NC_000008.11:g.103324684A>T	ExAC,TOPMed,gnomAD
rs1210328421	p.Leu195Pro	missense variant	-	NC_000008.11:g.103324690T>C	gnomAD
rs1396374934	p.Glu196Gly	missense variant	-	NC_000008.11:g.103324693A>G	gnomAD
rs746074508	p.Phe197Ser	missense variant	-	NC_000008.11:g.103324696T>C	ExAC,TOPMed,gnomAD
rs775573797	p.Ile202Ser	missense variant	-	NC_000008.11:g.103324711T>G	ExAC,TOPMed,gnomAD
rs775573797	p.Ile202Thr	missense variant	-	NC_000008.11:g.103324711T>C	ExAC,TOPMed,gnomAD
rs1048279178	p.Gly203Arg	missense variant	-	NC_000008.11:g.103324713G>A	TOPMed
rs1048279178	p.Gly203Arg	missense variant	-	NC_000008.11:g.103324713G>C	TOPMed
rs776494531	p.Ile207Met	missense variant	-	NC_000008.11:g.103324727A>G	ExAC,gnomAD
rs146924761	p.Ile207Val	missense variant	-	NC_000008.11:g.103324725A>G	ESP,ExAC,TOPMed,gnomAD
rs1330234377	p.Phe208Cys	missense variant	-	NC_000008.11:g.103324729T>G	TOPMed,gnomAD
rs1330234377	p.Phe208Ser	missense variant	-	NC_000008.11:g.103324729T>C	TOPMed,gnomAD
rs1330234377	p.Phe208Tyr	missense variant	-	NC_000008.11:g.103324729T>A	TOPMed,gnomAD
rs1437126989	p.Leu210Phe	missense variant	-	NC_000008.11:g.103324734C>T	gnomAD
rs1279554917	p.Leu210Pro	missense variant	-	NC_000008.11:g.103324735T>C	TOPMed
rs1352592850	p.Ala212Glu	missense variant	-	NC_000008.11:g.103324741C>A	TOPMed
rs1237966129	p.Thr216Ala	missense variant	-	NC_000008.11:g.103324752A>G	TOPMed
rs765077597	p.Phe217Cys	missense variant	-	NC_000008.11:g.103324756T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr219Pro	missense variant	-	NC_000008.11:g.103324761A>C	NCI-TCGA
rs893947591	p.Leu221Ter	stop gained	-	NC_000008.11:g.103324768T>A	TOPMed
rs1351700529	p.Ile222Val	missense variant	-	NC_000008.11:g.103324770A>G	gnomAD
COSM1094459	p.Asp223Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103324773G>T	NCI-TCGA Cosmic
COSM289073	p.Arg225Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103324780G>A	NCI-TCGA Cosmic
COSM3778794	p.Arg225Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103324780G>C	NCI-TCGA Cosmic
COSM4819085	p.Arg228Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103324789G>C	NCI-TCGA Cosmic
COSM3778795	p.Arg228Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103324789G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro230LeuPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.103324794_103324795insTTGGA	NCI-TCGA
NCI-TCGA novel	p.Ile234LysPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.103324806_103324807insAATCCAATGTCTCT	NCI-TCGA
NCI-TCGA novel	p.Ile235Met	missense variant	-	NC_000008.11:g.103324811A>G	NCI-TCGA
rs751119249	p.Tyr236Cys	missense variant	-	NC_000008.11:g.103324813A>G	ExAC
rs372850452	p.Tyr236His	missense variant	-	NC_000008.11:g.103324812T>C	ESP,ExAC,TOPMed,gnomAD
rs754477513	p.Tyr237Cys	missense variant	-	NC_000008.11:g.103324816A>G	ExAC,TOPMed
rs1194639978	p.Ser242Asn	missense variant	-	NC_000008.11:g.103324831G>A	gnomAD
rs1255516559	p.Ile243Thr	missense variant	-	NC_000008.11:g.103324834T>C	gnomAD
rs1453378750	p.Val244Ala	missense variant	-	NC_000008.11:g.103324837T>C	TOPMed
NCI-TCGA novel	p.Ser245Cys	missense variant	-	NC_000008.11:g.103324840C>G	NCI-TCGA
rs764751010	p.Leu246Phe	missense variant	-	NC_000008.11:g.103324842C>T	ExAC,gnomAD
rs764751010	p.Leu246Val	missense variant	-	NC_000008.11:g.103324842C>G	ExAC,gnomAD
rs377161583	p.Met247Thr	missense variant	-	NC_000008.11:g.103324846T>C	ESP,ExAC,TOPMed,gnomAD
rs757599522	p.Phe249Leu	missense variant	-	NC_000008.11:g.103324851T>C	ExAC,gnomAD
rs1470963015	p.Ile250Thr	missense variant	-	NC_000008.11:g.103324855T>C	gnomAD
rs1161041099	p.Ile250Met	missense variant	-	NC_000008.11:g.103324856T>G	gnomAD
rs1389553987	p.Gly251Arg	missense variant	-	NC_000008.11:g.103324857G>A	gnomAD
rs1176717343	p.Phe252Tyr	missense variant	-	NC_000008.11:g.103324861T>A	gnomAD
rs1327634438	p.Leu253Phe	missense variant	-	NC_000008.11:g.103324865G>T	gnomAD
rs1445893196	p.Gly255Ser	missense variant	-	NC_000008.11:g.103324869G>A	gnomAD
rs201820118	p.Asp256Asn	missense variant	-	NC_000008.11:g.103324872G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser257Ile	missense variant	-	NC_000008.11:g.103324876G>T	NCI-TCGA
rs1241465064	p.Ser257Gly	missense variant	-	NC_000008.11:g.103324875A>G	gnomAD
rs1178027003	p.Ala259Thr	missense variant	-	NC_000008.11:g.103324881G>A	gnomAD
NCI-TCGA novel	p.Ala259Val	missense variant	-	NC_000008.11:g.103324882C>T	NCI-TCGA
NCI-TCGA novel	p.Ala259Ser	missense variant	-	NC_000008.11:g.103324881G>T	NCI-TCGA
rs780187587	p.Asn261Ser	missense variant	-	NC_000008.11:g.103324888A>G	ExAC,gnomAD
rs1214749440	p.Lys262Arg	missense variant	-	NC_000008.11:g.103324891A>G	gnomAD
rs1355903108	p.Lys262Ter	stop gained	-	NC_000008.11:g.103324890A>T	gnomAD
rs1193820321	p.Glu265Lys	missense variant	-	NC_000008.11:g.103324899G>A	TOPMed
COSM453773	p.Glu265Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103324901G>C	NCI-TCGA Cosmic
rs1448517780	p.Glu265Asp	missense variant	-	NC_000008.11:g.103324901G>T	TOPMed
rs1281963730	p.Lys266Met	missense variant	-	NC_000008.11:g.103324903A>T	TOPMed
rs747106870	p.Leu269Arg	missense variant	-	NC_000008.11:g.103324912T>G	ExAC,gnomAD
rs1204165688	p.Thr272Ala	missense variant	-	NC_000008.11:g.103324920A>G	TOPMed
rs776618074	p.Val274Leu	missense variant	-	NC_000008.11:g.103324926G>C	ExAC,TOPMed,gnomAD
rs370601506	p.Ser277Cys	missense variant	-	NC_000008.11:g.103324936C>G	ESP,ExAC,gnomAD
rs375091015	p.Ala281Ser	missense variant	-	NC_000008.11:g.103324947G>T	ESP,ExAC,TOPMed,gnomAD
rs762587938	p.Cys282Tyr	missense variant	-	NC_000008.11:g.103324951G>A	ExAC,gnomAD
rs766142758	p.Thr283Ser	missense variant	-	NC_000008.11:g.103324953A>T	ExAC,gnomAD
rs766142758	p.Thr283Ala	missense variant	-	NC_000008.11:g.103324953A>G	ExAC,gnomAD
rs141253426	p.Val284Ile	missense variant	-	NC_000008.11:g.103324956G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1398525123	p.Met287Thr	missense variant	-	NC_000008.11:g.103324966T>C	gnomAD
RCV000170581	p.Tyr290Cys	missense variant	Non-immune hydrops fetalis (NIHF)	NC_000008.11:g.103324975A>G	ClinVar
rs786205672	p.Tyr290Cys	missense variant	-	NC_000008.11:g.103324975A>G	-
NCI-TCGA novel	p.Phe292SerPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.103324976T>-	NCI-TCGA
rs759181459	p.Thr293Ile	missense variant	-	NC_000008.11:g.103324984C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr293HisPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.103324975_103324976insT	NCI-TCGA
rs767102317	p.Met294Leu	missense variant	-	NC_000008.11:g.103324986A>T	ExAC,gnomAD
rs1234072800	p.Met294Thr	missense variant	-	NC_000008.11:g.103324987T>C	gnomAD
rs1357610731	p.Met294Ile	missense variant	-	NC_000008.11:g.103324988G>T	gnomAD
NCI-TCGA novel	p.Met294Leu	missense variant	-	NC_000008.11:g.103324986A>C	NCI-TCGA
rs1316728046	p.Ala295Val	missense variant	-	NC_000008.11:g.103324990C>T	TOPMed
rs1295529759	p.Gly296Ser	missense variant	-	NC_000008.11:g.103324992G>A	gnomAD
rs754354607	p.Trp299Ter	stop gained	-	NC_000008.11:g.103325002G>A	ExAC,TOPMed,gnomAD
rs754354607	p.Trp299Ser	missense variant	-	NC_000008.11:g.103325002G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp299Leu	missense variant	-	NC_000008.11:g.103325002G>T	NCI-TCGA
rs1218401052	p.Trp300Ter	stop gained	-	NC_000008.11:g.103325006G>A	gnomAD
rs1469541628	p.Leu303Pro	missense variant	-	NC_000008.11:g.103325014T>C	gnomAD
NCI-TCGA novel	p.Thr304Ile	missense variant	-	NC_000008.11:g.103325017C>T	NCI-TCGA
rs1254810955	p.Leu309Ser	missense variant	-	NC_000008.11:g.103325032T>C	gnomAD
rs1459882979	p.Ala311Thr	missense variant	-	NC_000008.11:g.103325037G>A	TOPMed
rs758705643	p.Gly312Arg	missense variant	-	NC_000008.11:g.103325040G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly312Val	missense variant	-	NC_000008.11:g.103325041G>T	NCI-TCGA
rs1168415461	p.Arg313Lys	missense variant	-	NC_000008.11:g.103325044G>A	TOPMed
COSM1094462	p.Arg313Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103325044G>T	NCI-TCGA Cosmic
rs1413255088	p.Arg313Gly	missense variant	-	NC_000008.11:g.103325043A>G	TOPMed
NCI-TCGA novel	p.Lys314LeuPheSerTerUnk	stop gained	-	NC_000008.11:g.103325022_103325023insCTTGGTTCTTAGCTGCAGGAAGACTCCAATTCGAATCATAAATTTCTTTAGTTTTT	NCI-TCGA
rs138895095	p.Cys317Tyr	missense variant	-	NC_000008.11:g.103325056G>A	ESP,TOPMed
rs747229738	p.Ala319Thr	missense variant	-	NC_000008.11:g.103325061G>A	ExAC,gnomAD
rs536022156	p.Glu321Lys	missense variant	-	NC_000008.11:g.103325067G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs748134351	p.Gln322Ter	stop gained	-	NC_000008.11:g.103325070C>T	ExAC,gnomAD
rs1464461855	p.Ala324Pro	missense variant	-	NC_000008.11:g.103325076G>C	gnomAD
rs769774212	p.Val325Ala	missense variant	-	NC_000008.11:g.103325080T>C	ExAC,TOPMed,gnomAD
rs769774212	p.Val325Glu	missense variant	-	NC_000008.11:g.103325080T>A	ExAC,TOPMed,gnomAD
rs1374882408	p.Phe327Tyr	missense variant	-	NC_000008.11:g.103325086T>A	gnomAD
rs144742285	p.Ala329Val	missense variant	-	NC_000008.11:g.103325092C>T	ESP,ExAC,TOPMed,gnomAD
rs770841418	p.Trp332Cys	missense variant	-	NC_000008.11:g.103325102G>C	ExAC,TOPMed,gnomAD
rs770841418	p.Trp332Ter	stop gained	-	NC_000008.11:g.103325102G>A	ExAC,TOPMed,gnomAD
rs1399829071	p.Thr334Ala	missense variant	-	NC_000008.11:g.103325106A>G	gnomAD
rs1296713082	p.Gly336Arg	missense variant	-	NC_000008.11:g.103325112G>C	gnomAD
rs1004883584	p.Phe337Leu	missense variant	-	NC_000008.11:g.103325117C>G	TOPMed,gnomAD
rs771804340	p.Val340Ile	missense variant	-	NC_000008.11:g.103325124G>A	ExAC,gnomAD
rs1215635668	p.Met341Ile	missense variant	-	NC_000008.11:g.103325129G>T	TOPMed
rs191400696	p.Met341Thr	missense variant	-	NC_000008.11:g.103325128T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs191400696	p.Met341Arg	missense variant	-	NC_000008.11:g.103325128T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs3808553	p.Met345Leu	missense variant	-	NC_000008.11:g.103325139A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371618519	p.Met345Thr	missense variant	-	NC_000008.11:g.103325140T>C	ESP,ExAC,TOPMed,gnomAD
rs3808553	p.Met345Val	missense variant	-	NC_000008.11:g.103325139A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763375328	p.Lys347Glu	missense variant	-	NC_000008.11:g.103325145A>G	ExAC,gnomAD
rs1263522296	p.Val348Ala	missense variant	-	NC_000008.11:g.103325149T>C	gnomAD
COSM3833775	p.Glu349Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103325151G>A	NCI-TCGA Cosmic
rs766701271	p.Gly350Glu	missense variant	-	NC_000008.11:g.103325155G>A	ExAC,gnomAD
rs766701271	p.Gly350Val	missense variant	-	NC_000008.11:g.103325155G>T	ExAC,gnomAD
rs1197995078	p.Asp351Val	missense variant	-	NC_000008.11:g.103325158A>T	gnomAD
rs1328172302	p.Asp351His	missense variant	-	NC_000008.11:g.103325157G>C	TOPMed
rs1439059082	p.Asn352Ile	missense variant	-	NC_000008.11:g.103325161A>T	TOPMed
rs1439059082	p.Asn352Ser	missense variant	-	NC_000008.11:g.103325161A>G	TOPMed
NCI-TCGA novel	p.Asn352Asp	missense variant	-	NC_000008.11:g.103325160A>G	NCI-TCGA
rs751829856	p.Cys357Ser	missense variant	-	NC_000008.11:g.103325175T>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly360Ser	missense variant	-	NC_000008.11:g.103325184G>A	NCI-TCGA
rs142793974	p.Ser367Phe	missense variant	-	NC_000008.11:g.103325206C>T	ESP,ExAC,TOPMed,gnomAD
rs374264909	p.Arg368Cys	missense variant	-	NC_000008.11:g.103325208C>T	ExAC,TOPMed,gnomAD
rs374264909	p.Arg368Gly	missense variant	-	NC_000008.11:g.103325208C>G	ExAC,TOPMed,gnomAD
rs375068426	p.Arg368His	missense variant	-	NC_000008.11:g.103325209G>A	ESP,ExAC,TOPMed,gnomAD
rs375068426	p.Arg368Leu	missense variant	-	NC_000008.11:g.103325209G>T	ESP,ExAC,TOPMed,gnomAD
rs756134702	p.Leu372Pro	missense variant	-	NC_000008.11:g.103325221T>C	ExAC,gnomAD
rs1289852576	p.Leu372Phe	missense variant	-	NC_000008.11:g.103325220C>T	gnomAD
rs1385607524	p.Pro374Ser	missense variant	-	NC_000008.11:g.103325226C>T	gnomAD
rs770896684	p.Leu377Phe	missense variant	-	NC_000008.11:g.103325235C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu377Ile	missense variant	-	NC_000008.11:g.103325235C>A	NCI-TCGA
rs1283232121	p.Val379Met	missense variant	-	NC_000008.11:g.103325241G>A	gnomAD
rs374209572	p.Val381Ile	missense variant	-	NC_000008.11:g.103325247G>A	ESP,ExAC,TOPMed,gnomAD
rs745621688	p.Ser384Cys	missense variant	-	NC_000008.11:g.103325257C>G	ExAC,gnomAD
rs745621688	p.Ser384Phe	missense variant	-	NC_000008.11:g.103325257C>T	ExAC,gnomAD
rs558172378	p.Leu385Ile	missense variant	-	NC_000008.11:g.103325259C>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM1453724	p.Leu385SerPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.103325253_103325254CT>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu386Phe	missense variant	-	NC_000008.11:g.103325262C>T	NCI-TCGA
rs142694816	p.Ala388Asp	missense variant	-	NC_000008.11:g.103325269C>A	UniProt,dbSNP
VAR_066965	p.Ala388Asp	missense variant	-	NC_000008.11:g.103325269C>A	UniProt
rs142694816	p.Ala388Asp	missense variant	-	NC_000008.11:g.103325269C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776411650	p.His395Arg	missense variant	-	NC_000008.11:g.103325290A>G	gnomAD
rs776411650	p.His395Leu	missense variant	-	NC_000008.11:g.103325290A>T	gnomAD
rs1378512583	p.Val396Phe	missense variant	-	NC_000008.11:g.103325292G>T	gnomAD
rs773811711	p.Arg397Gln	missense variant	-	NC_000008.11:g.103325296G>A	ExAC,gnomAD
rs768048309	p.Arg397Ter	stop gained	-	NC_000008.11:g.103325295C>T	ExAC,gnomAD
rs766830082	p.Gln398Arg	missense variant	-	NC_000008.11:g.103325299A>G	ExAC,TOPMed,gnomAD
COSM3778796	p.Gln398His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103325300A>C	NCI-TCGA Cosmic
rs1205160632	p.Val399Ile	missense variant	-	NC_000008.11:g.103325301G>A	TOPMed
COSM1094464	p.Val399Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103325302T>C	NCI-TCGA Cosmic
rs1325611528	p.Asp403His	missense variant	-	NC_000008.11:g.103325313G>C	gnomAD
NCI-TCGA novel	p.Gly404Cys	missense variant	-	NC_000008.11:g.103325316G>T	NCI-TCGA
rs150760762	p.Arg405Gln	missense variant	-	NC_000008.11:g.103325320G>A	UniProt,dbSNP
VAR_066966	p.Arg405Gln	missense variant	-	NC_000008.11:g.103325320G>A	UniProt
rs150760762	p.Arg405Gln	missense variant	-	NC_000008.11:g.103325320G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs186016315	p.Arg405Trp	missense variant	-	NC_000008.11:g.103325319C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu408Gln	missense variant	-	NC_000008.11:g.103325328G>C	NCI-TCGA
NCI-TCGA novel	p.Lys409AsnPheSerTerUnk	frameshift	-	NC_000008.11:g.103325329A>-	NCI-TCGA
COSM169210	p.Lys411Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103325339G>T	NCI-TCGA Cosmic
rs1280383857	p.Met414Ile	missense variant	-	NC_000008.11:g.103325348G>T	TOPMed
rs1367124305	p.Met414Val	missense variant	-	NC_000008.11:g.103325346A>G	TOPMed
rs370982279	p.Ile415Val	missense variant	-	NC_000008.11:g.103325349A>G	ESP,ExAC,TOPMed,gnomAD
rs763949530	p.Arg416Gln	missense variant	-	NC_000008.11:g.103325353G>A	ExAC,TOPMed,gnomAD
rs777689471	p.Arg416Ter	stop gained	-	NC_000008.11:g.103325352C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly418Ala	missense variant	-	NC_000008.11:g.103325359G>C	NCI-TCGA
rs757294301	p.Val419Asp	missense variant	-	NC_000008.11:g.103325362T>A	ExAC,TOPMed,gnomAD
rs757294301	p.Val419Gly	missense variant	-	NC_000008.11:g.103325362T>G	ExAC,TOPMed,gnomAD
rs376142293	p.Gly422Ser	missense variant	-	NC_000008.11:g.103325370G>A	ESP,ExAC,TOPMed,gnomAD
rs1236450328	p.Leu423Ser	missense variant	-	NC_000008.11:g.103325374T>C	gnomAD
rs779823367	p.Leu423Phe	missense variant	-	NC_000008.11:g.103325375G>T	ExAC,gnomAD
rs746611504	p.Tyr424Phe	missense variant	-	NC_000008.11:g.103325377A>T	ExAC,TOPMed,gnomAD
rs1432404440	p.Tyr424His	missense variant	-	NC_000008.11:g.103325376T>C	TOPMed
rs746611504	p.Tyr424Cys	missense variant	-	NC_000008.11:g.103325377A>G	ExAC,TOPMed,gnomAD
rs1422261267	p.Val426Met	missense variant	-	NC_000008.11:g.103325382G>A	gnomAD
rs1422261267	p.Val426Leu	missense variant	-	NC_000008.11:g.103325382G>T	gnomAD
rs952688049	p.Thr430Ile	missense variant	-	NC_000008.11:g.103325395C>T	TOPMed
rs1182066631	p.Leu431Val	missense variant	-	NC_000008.11:g.103325397C>G	TOPMed
NCI-TCGA novel	p.Leu432Ile	missense variant	-	NC_000008.11:g.103325400C>A	NCI-TCGA
rs541992719	p.Gly433Arg	missense variant	-	NC_000008.11:g.103325403G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs756849567	p.Cys434Phe	missense variant	-	NC_000008.11:g.103325407G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr435Ter	stop gained	-	NC_000008.11:g.103325411C>G	NCI-TCGA
rs759960644	p.Val436Ile	missense variant	-	NC_000008.11:g.103325412G>A	ExAC,gnomAD
rs1371244150	p.Glu438Lys	missense variant	-	NC_000008.11:g.103325418G>A	TOPMed
rs560116992	p.Val440Ala	missense variant	-	NC_000008.11:g.103325425T>C	1000Genomes,ExAC,gnomAD
rs760826071	p.Val440Met	missense variant	-	NC_000008.11:g.103325424G>A	ExAC,gnomAD
rs753974488	p.Arg442Trp	missense variant	-	NC_000008.11:g.103325430A>T	ExAC,TOPMed,gnomAD
rs753974488	p.Arg442Gly	missense variant	-	NC_000008.11:g.103325430A>G	ExAC,TOPMed,gnomAD
rs1336606160	p.Trp445Ter	stop gained	-	NC_000008.11:g.103325441G>A	gnomAD
rs1278481298	p.Glu446Gly	missense variant	-	NC_000008.11:g.103325443A>G	gnomAD
rs757357454	p.Ile447Thr	missense variant	-	NC_000008.11:g.103325446T>C	ExAC,gnomAD
rs1319324841	p.Val450Ala	missense variant	-	NC_000008.11:g.103325455T>C	gnomAD
rs527378976	p.Val450Phe	missense variant	-	NC_000008.11:g.103325454G>T	1000Genomes
rs1415509621	p.Asp452Glu	missense variant	-	NC_000008.11:g.103325462T>A	TOPMed
NCI-TCGA novel	p.Asp452His	missense variant	-	NC_000008.11:g.103325460G>C	NCI-TCGA
NCI-TCGA novel	p.His453Tyr	missense variant	-	NC_000008.11:g.103325463C>T	NCI-TCGA
rs1272285096	p.Cys454Phe	missense variant	-	NC_000008.11:g.103325467G>T	gnomAD
rs764886770	p.Cys454Ter	stop gained	-	NC_000008.11:g.103325468T>A	gnomAD
rs368015730	p.Arg455Cys	missense variant	-	NC_000008.11:g.103325469C>T	ExAC,TOPMed,gnomAD
rs551894404	p.Arg455His	missense variant	-	NC_000008.11:g.103325470G>A	1000Genomes,TOPMed
NCI-TCGA novel	p.Gln456Ter	stop gained	-	NC_000008.11:g.103325472C>T	NCI-TCGA
rs963976545	p.Ile459Val	missense variant	-	NC_000008.11:g.103325481A>G	TOPMed
rs1271758222	p.Cys461Arg	missense variant	-	NC_000008.11:g.103325487T>C	gnomAD
rs1398645999	p.Pro462Thr	missense variant	-	NC_000008.11:g.103325490C>A	TOPMed
rs779693042	p.Gln464His	missense variant	-	NC_000008.11:g.103325498G>C	ExAC,gnomAD
rs1187402604	p.Gln464Glu	missense variant	-	NC_000008.11:g.103325496C>G	gnomAD
rs1286940633	p.Ala465Gly	missense variant	-	NC_000008.11:g.103328269C>G	TOPMed
rs765376606	p.Ala467Ser	missense variant	-	NC_000008.11:g.103328274G>T	ExAC,gnomAD
rs1188744886	p.Ala469Asp	missense variant	-	NC_000008.11:g.103328281C>A	gnomAD
rs750436184	p.Arg470Ter	stop gained	-	NC_000008.11:g.103328283C>T	ExAC,TOPMed,gnomAD
rs758292286	p.Arg470Gln	missense variant	-	NC_000008.11:g.103328284G>A	ExAC,gnomAD
rs751323317	p.Glu472Gln	missense variant	-	NC_000008.11:g.103328289G>C	ExAC,TOPMed,gnomAD
rs147565570	p.Glu472Gly	missense variant	-	NC_000008.11:g.103328290A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1432819906	p.Ala474Val	missense variant	-	NC_000008.11:g.103328296C>T	gnomAD
rs768721252	p.Met477Lys	missense variant	-	NC_000008.11:g.103328305T>A	TOPMed
rs777284498	p.Ile478Met	missense variant	-	NC_000008.11:g.103328309A>G	ExAC,gnomAD
rs149021436	p.Tyr480Ter	stop gained	-	NC_000008.11:g.103328315C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu481Pro	missense variant	-	NC_000008.11:g.103328317T>C	NCI-TCGA
rs376124026	p.Ile485Ser	missense variant	-	NC_000008.11:g.103328329T>G	ESP,ExAC,gnomAD
COSM1132886	p.Ile485Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103328328A>G	NCI-TCGA Cosmic
rs780555971	p.Val486Phe	missense variant	-	NC_000008.11:g.103328331G>T	ExAC,gnomAD
NCI-TCGA novel	p.Val486Ile	missense variant	-	NC_000008.11:g.103328331G>A	NCI-TCGA
COSM1094466	p.Gly487Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103328334G>A	NCI-TCGA Cosmic
rs747394243	p.Ile488Ser	missense variant	-	NC_000008.11:g.103328338T>G	ExAC,gnomAD
rs769142373	p.Ser489Thr	missense variant	-	NC_000008.11:g.103328340T>A	ExAC,gnomAD
rs773197811	p.Trp493Cys	missense variant	-	NC_000008.11:g.103328354G>T	ExAC,gnomAD
rs770093420	p.Trp493Leu	missense variant	-	NC_000008.11:g.103328353G>T	ExAC,gnomAD
COSM5873647	p.Val494Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103328355G>A	NCI-TCGA Cosmic
COSM748992	p.Gly495Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.103328358G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser496Thr	missense variant	-	NC_000008.11:g.103328362G>C	NCI-TCGA
rs1468284989	p.Lys498Gln	missense variant	-	NC_000008.11:g.103328367A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Lys498Asn	missense variant	-	NC_000008.11:g.103328369G>T	NCI-TCGA
rs1414701442	p.Ala504Thr	missense variant	-	NC_000008.11:g.103328385G>A	TOPMed,gnomAD
COSM453774	p.Phe506Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103328391T>G	NCI-TCGA Cosmic
COSM1094467	p.Phe506Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103328392T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe507LeuPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.103328391T>-	NCI-TCGA
rs1385205122	p.Lys508Ter	stop gained	-	NC_000008.11:g.103328397A>T	gnomAD
rs766284226	p.Arg509Ter	stop gained	-	NC_000008.11:g.103328400C>T	ExAC,TOPMed,gnomAD
rs766284226	p.Arg509Gly	missense variant	-	NC_000008.11:g.103328400C>G	ExAC,TOPMed,gnomAD
rs143405641	p.Arg509Gln	missense variant	-	NC_000008.11:g.103328401G>A	ESP,ExAC,TOPMed,gnomAD
rs1393674469	p.Asn510Thr	missense variant	-	NC_000008.11:g.103328404A>C	gnomAD
rs767273753	p.Arg511His	missense variant	-	NC_000008.11:g.103328407G>A	UniProt,dbSNP
VAR_066967	p.Arg511His	missense variant	-	NC_000008.11:g.103328407G>A	UniProt
rs767273753	p.Arg511His	missense variant	-	NC_000008.11:g.103328407G>A	ExAC,gnomAD
rs151339003	p.Arg511Cys	missense variant	Nail disorder, nonsyndromic congenital, 10 (ndnc10)	NC_000008.11:g.103328406C>T	ExAC,TOPMed,gnomAD
rs151339003	p.Arg511Cys	missense variant	Nail disorder, non-syndromic congenital, 10 (NDNC10)	NC_000008.11:g.103328406C>T	UniProt,dbSNP
VAR_066398	p.Arg511Cys	missense variant	Nail disorder, non-syndromic congenital, 10 (NDNC10)	NC_000008.11:g.103328406C>T	UniProt
RCV000023301	p.Arg511Cys	missense variant	Nail disorder, nonsyndromic congenital, 10 (NDNC10)	NC_000008.11:g.103328406C>T	ClinVar
RCV000077801	p.Arg511Cys	missense variant	Nail disease	NC_000008.11:g.103328406C>T	ClinVar
rs1236956669	p.Lys512Asn	missense variant	-	NC_000008.11:g.103328411G>C	gnomAD
rs761539526	p.Asp514Gly	missense variant	-	NC_000008.11:g.103328416A>G	ExAC,TOPMed,gnomAD
rs1291827455	p.Pro515Leu	missense variant	-	NC_000008.11:g.103329657C>T	gnomAD
rs1032747700	p.Ile516Val	missense variant	-	NC_000008.11:g.103329659A>G	TOPMed
rs1271354824	p.Ser517Cys	missense variant	-	NC_000008.11:g.103329662A>T	TOPMed
rs759490885	p.Ser519Thr	missense variant	-	NC_000008.11:g.103329669G>C	ExAC,TOPMed,gnomAD
rs367925897	p.Arg520Pro	missense variant	-	NC_000008.11:g.103329672G>C	ESP,ExAC,TOPMed,gnomAD
rs367925897	p.Arg520Leu	missense variant	-	NC_000008.11:g.103329672G>T	ESP,ExAC,TOPMed,gnomAD
rs151317643	p.Arg520Ter	stop gained	-	NC_000008.11:g.103329671C>T	ESP,ExAC,gnomAD
rs367925897	p.Arg520Gln	missense variant	-	NC_000008.11:g.103329672G>A	ESP,ExAC,TOPMed,gnomAD
rs140569835	p.Val522Leu	missense variant	-	NC_000008.11:g.103329677G>C	ESP,ExAC,TOPMed,gnomAD
rs1439202689	p.Gln524Arg	missense variant	-	NC_000008.11:g.103329684A>G	gnomAD
rs753526077	p.Glu525Gln	missense variant	-	NC_000008.11:g.103329686G>C	ExAC,gnomAD
rs756757913	p.Cys527Arg	missense variant	-	NC_000008.11:g.103329692T>C	ExAC,gnomAD
rs1475451914	p.Cys527Trp	missense variant	-	NC_000008.11:g.103329694T>G	gnomAD
NCI-TCGA novel	p.Glu528Gly	missense variant	-	NC_000008.11:g.103329696A>G	NCI-TCGA
rs1166790169	p.Lys532Asn	missense variant	-	NC_000008.11:g.103329709G>T	TOPMed,gnomAD
rs764786532	p.Asn534His	missense variant	-	NC_000008.11:g.103329713A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys536Glu	missense variant	-	NC_000008.11:g.103329719A>G	NCI-TCGA
NCI-TCGA novel	p.His543Tyr	missense variant	-	NC_000008.11:g.103329740C>T	NCI-TCGA
rs554970152	p.Tyr544Cys	missense variant	-	NC_000008.11:g.103329744A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1021765095	p.Ser547Gly	missense variant	-	NC_000008.11:g.103329752A>G	TOPMed
rs1431877722	p.Ser547Asn	missense variant	-	NC_000008.11:g.103329753G>A	gnomAD
rs375398057	p.His549Tyr	missense variant	-	NC_000008.11:g.103329758C>T	ESP,ExAC,gnomAD
rs1415822378	p.Lys550Gln	missense variant	-	NC_000008.11:g.103329761A>C	gnomAD
NCI-TCGA novel	p.Lys552Asn	missense variant	-	NC_000008.11:g.103329769G>T	NCI-TCGA
rs748578409	p.Val553Ala	missense variant	-	NC_000008.11:g.103329771T>C	ExAC,gnomAD
rs748578409	p.Val553Asp	missense variant	-	NC_000008.11:g.103329771T>A	ExAC,gnomAD
rs1325234560	p.Ile554Thr	missense variant	-	NC_000008.11:g.103329774T>C	gnomAD
rs756540473	p.Ser555Cys	missense variant	-	NC_000008.11:g.103329777C>G	ExAC,gnomAD
rs145774645	p.Ser557Phe	missense variant	-	NC_000008.11:g.103329783C>T	ESP,ExAC,TOPMed,gnomAD
rs1208095664	p.Met558Leu	missense variant	-	NC_000008.11:g.103329785A>T	TOPMed,gnomAD
rs1208095664	p.Met558Val	missense variant	-	NC_000008.11:g.103329785A>G	TOPMed,gnomAD
rs1279212971	p.Ser561Asn	missense variant	-	NC_000008.11:g.103329795G>A	TOPMed,gnomAD
rs749500056	p.Ala566Glu	missense variant	-	NC_000008.11:g.103329810C>A	ExAC,gnomAD
rs1160809849	p.His568Pro	missense variant	-	NC_000008.11:g.103329816A>C	gnomAD
rs1160809849	p.His568Arg	missense variant	-	NC_000008.11:g.103329816A>G	gnomAD
NCI-TCGA novel	p.Gly569Asp	missense variant	-	NC_000008.11:g.103329819G>A	NCI-TCGA
rs1259349680	p.Ala572Thr	missense variant	-	NC_000008.11:g.103329827G>A	gnomAD
rs745879785	p.Ile575Val	missense variant	-	NC_000008.11:g.103329836A>G	ExAC,gnomAD
NCI-TCGA novel	p.Thr576Ala	missense variant	-	NC_000008.11:g.103329839A>G	NCI-TCGA
rs775395889	p.His578Arg	missense variant	-	NC_000008.11:g.103329846A>G	ExAC,TOPMed,gnomAD
rs760532855	p.Gly582Glu	missense variant	-	NC_000008.11:g.103329858G>A	ExAC,gnomAD
rs776196559	p.Gln583Arg	missense variant	-	NC_000008.11:g.103329861A>G	ExAC,gnomAD
RCV000077802	p.Glu584Ter	nonsense	Nail disease	NC_000008.11:g.103329863G>T	ClinVar
rs151339002	p.Glu584Lys	missense variant	Nail disorder, nonsyndromic congenital, 10 (ndnc10)	NC_000008.11:g.103329863G>A	ExAC,TOPMed,gnomAD
rs151339002	p.Glu584Ter	stop gained	Nail disorder, nonsyndromic congenital, 10 (ndnc10)	NC_000008.11:g.103329863G>T	ExAC,TOPMed,gnomAD
RCV000023300	p.Glu584Ter	nonsense	Nail disorder, nonsyndromic congenital, 10 (NDNC10)	NC_000008.11:g.103329863G>T	ClinVar
rs1339133281	p.Thr585Ala	missense variant	-	NC_000008.11:g.103329866A>G	TOPMed
rs764759728	p.Leu586Ser	missense variant	-	NC_000008.11:g.103329870T>C	ExAC,gnomAD
rs1231505920	p.Glu588Lys	missense variant	-	NC_000008.11:g.103329875G>A	TOPMed,gnomAD
rs1231505920	p.Glu588Ter	stop gained	-	NC_000008.11:g.103329875G>T	TOPMed,gnomAD
rs1359184533	p.Gln590Ter	stop gained	-	NC_000008.11:g.103329881C>T	TOPMed,gnomAD
rs1347605213	p.Thr591Asn	missense variant	-	NC_000008.11:g.103329885C>A	TOPMed
NCI-TCGA novel	p.Glu594Gln	missense variant	-	NC_000008.11:g.103329893G>C	NCI-TCGA
rs963229485	p.Thr595Ile	missense variant	-	NC_000008.11:g.103329897C>T	gnomAD
NCI-TCGA novel	p.Met597Ile	missense variant	-	NC_000008.11:g.103329904G>A	NCI-TCGA
rs1485454569	p.Arg598Ter	stop gained	-	NC_000008.11:g.103329905A>T	gnomAD
NCI-TCGA novel	p.Arg598Ter	frameshift	-	NC_000008.11:g.103329904_103329910GAGAGAG>-	NCI-TCGA
rs1355142337	p.Glu599Lys	missense variant	-	NC_000008.11:g.103329908G>A	TOPMed
rs758708176	p.Glu599Asp	missense variant	-	NC_000008.11:g.103329910G>T	ExAC,TOPMed,gnomAD
rs1381945857	p.Val600Met	missense variant	-	NC_000008.11:g.103329911G>A	TOPMed,gnomAD
rs1381945857	p.Val600Leu	missense variant	-	NC_000008.11:g.103329911G>T	TOPMed,gnomAD
rs556352002	p.Ala602Val	missense variant	-	NC_000008.11:g.103329918C>T	ExAC,TOPMed,gnomAD
rs79408516	p.Gly604Arg	missense variant	-	NC_000008.11:g.103329923G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749576044	p.Thr607Ala	missense variant	-	NC_000008.11:g.103329932A>G	ExAC,gnomAD
rs757505339	p.Thr607Asn	missense variant	-	NC_000008.11:g.103329933C>A	ExAC,gnomAD
rs143153183	p.Arg609Lys	missense variant	-	NC_000008.11:g.103329939G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1040321851	p.Arg609Ser	missense variant	-	NC_000008.11:g.103329940G>T	TOPMed,gnomAD
rs1040321851	p.Arg609Ser	missense variant	-	NC_000008.11:g.103329940G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Arg609GlyPheSerTerUnk	frameshift	-	NC_000008.11:g.103329933C>-	NCI-TCGA
rs1324637196	p.Arg611Ser	missense variant	-	NC_000008.11:g.103329946A>T	gnomAD
rs746927610	p.Asp614Asn	missense variant	-	NC_000008.11:g.103329953G>A	ExAC,gnomAD
rs746927610	p.Asp614His	missense variant	-	NC_000008.11:g.103329953G>C	ExAC,gnomAD
rs1444393939	p.Cys615Ser	missense variant	-	NC_000008.11:g.103329957G>C	gnomAD
rs377263981	p.Cys615Ser	missense variant	-	NC_000008.11:g.103329956T>A	ESP,ExAC,gnomAD
rs138824850	p.Pro618Arg	missense variant	-	NC_000008.11:g.103329966C>G	ESP,ExAC,TOPMed,gnomAD
rs138824850	p.Pro618Leu	missense variant	-	NC_000008.11:g.103329966C>T	ESP,ExAC,TOPMed,gnomAD
rs903082125	p.Ala619Val	missense variant	-	NC_000008.11:g.103329969C>T	TOPMed
rs116195528	p.Ser620Thr	missense variant	-	NC_000008.11:g.103329971T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762588534	p.Ser620Leu	missense variant	-	NC_000008.11:g.103329972C>T	ExAC,gnomAD
rs751060280	p.Ala622Gly	missense variant	-	NC_000008.11:g.103329978C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala622Val	missense variant	-	NC_000008.11:g.103329978C>T	NCI-TCGA
rs144179120	p.Ala623Val	missense variant	-	NC_000008.11:g.103329981C>T	ESP,ExAC,gnomAD
rs1192966381	p.Ile625Val	missense variant	-	NC_000008.11:g.103329986A>G	gnomAD
COSM1453727	p.Ser626Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103329990C>G	NCI-TCGA Cosmic
rs754241636	p.Ser629Ala	missense variant	-	NC_000008.11:g.103329998T>G	ExAC,gnomAD
COSM281275	p.Ser629Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103329999C>T	NCI-TCGA Cosmic
rs757546452	p.Gly630Ala	missense variant	-	NC_000008.11:g.103330002G>C	ExAC,TOPMed,gnomAD
COSM3884268	p.Gly630Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103330002G>T	NCI-TCGA Cosmic
rs779174548	p.Glu631Val	missense variant	-	NC_000008.11:g.103330005A>T	ExAC,gnomAD
COSM275238	p.Glu631Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103330004G>A	NCI-TCGA Cosmic
rs1164898443	p.Glu631Gln	missense variant	-	NC_000008.11:g.103330004G>C	gnomAD
rs750613302	p.Gln632Ter	stop gained	-	NC_000008.11:g.103330007C>T	ExAC,gnomAD
rs758522857	p.Val633Ile	missense variant	-	NC_000008.11:g.103330010G>A	ExAC,gnomAD
rs139052958	p.Asp634Asn	missense variant	-	NC_000008.11:g.103330013G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs139052958	p.Asp634His	missense variant	-	NC_000008.11:g.103330013G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs116913901	p.Gly635Arg	missense variant	-	NC_000008.11:g.103330016G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1175129726	p.Ala639Thr	missense variant	-	NC_000008.11:g.103330028G>A	TOPMed
rs1173573170	p.Ala639Gly	missense variant	-	NC_000008.11:g.103330029C>G	gnomAD
rs769442423	p.Ser641Asn	missense variant	-	NC_000008.11:g.103330035G>A	ExAC,gnomAD
rs1419232323	p.Glu644Ala	missense variant	-	NC_000008.11:g.103330044A>C	TOPMed
rs1456980766	p.Ser645Arg	missense variant	-	NC_000008.11:g.103330048T>A	TOPMed
rs371961225	p.Ser645Ile	missense variant	-	NC_000008.11:g.103330047G>T	ESP,ExAC,TOPMed,gnomAD
rs1323413408	p.Ser645Gly	missense variant	-	NC_000008.11:g.103330046A>G	gnomAD
rs371961225	p.Ser645Asn	missense variant	-	NC_000008.11:g.103330047G>A	ESP,ExAC,TOPMed,gnomAD
rs141288802	p.Ala646Gly	missense variant	-	NC_000008.11:g.103330050C>G	ESP,ExAC,TOPMed,gnomAD
rs1231211711	p.Ala646Thr	missense variant	-	NC_000008.11:g.103330049G>A	TOPMed,gnomAD
rs141288802	p.Ala646Val	missense variant	-	NC_000008.11:g.103330050C>T	ESP,ExAC,TOPMed,gnomAD
rs201432167	p.Arg647Trp	missense variant	-	NC_000008.11:g.103330052C>T	TOPMed,gnomAD
rs768811178	p.Arg647Gln	missense variant	-	NC_000008.11:g.103330053G>A	ExAC,TOPMed,gnomAD
rs758912519	p.Ser648Arg	missense variant	-	NC_000008.11:g.103330057T>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu649Gly	missense variant	-	NC_000008.11:g.103330059A>G	NCI-TCGA
rs751676826	p.Ser653Thr	missense variant	-	NC_000008.11:g.103331346G>C	ExAC,gnomAD
rs996103644	p.Pro654Ser	missense variant	-	NC_000008.11:g.103331348C>T	gnomAD
rs558778118	p.Asp657Gly	missense variant	-	NC_000008.11:g.103331358A>G	ExAC,gnomAD
rs748009628	p.Ile658Thr	missense variant	-	NC_000008.11:g.103331361T>C	ExAC,TOPMed,gnomAD
rs769718856	p.Thr661Ile	missense variant	-	NC_000008.11:g.103331370C>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr661Ala	missense variant	-	NC_000008.11:g.103331369A>G	NCI-TCGA
rs749023962	p.Gly662Ser	missense variant	-	NC_000008.11:g.103331372G>A	ExAC,gnomAD
rs12549394	p.Ala664Glu	missense variant	-	NC_000008.11:g.103331379C>A	UniProt,dbSNP
VAR_047442	p.Ala664Glu	missense variant	-	NC_000008.11:g.103331379C>A	UniProt
rs12549394	p.Ala664Glu	missense variant	-	NC_000008.11:g.103331379C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs12549394	p.Ala664Val	missense variant	-	NC_000008.11:g.103331379C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749101422	p.Ser666Thr	missense variant	-	NC_000008.11:g.103331385G>C	ExAC,TOPMed,gnomAD
rs777245445	p.Leu669Ser	missense variant	-	NC_000008.11:g.103331394T>C	ExAC,gnomAD
rs1279797675	p.Gln670Arg	missense variant	-	NC_000008.11:g.103331397A>G	gnomAD
rs1376631182	p.Val671Ile	missense variant	-	NC_000008.11:g.103331399G>A	TOPMed
rs970326057	p.Pro672Thr	missense variant	-	NC_000008.11:g.103331402C>A	TOPMed
rs1418634189	p.Pro677Thr	missense variant	-	NC_000008.11:g.103331417C>A	TOPMed
rs773575339	p.Pro677Leu	missense variant	-	NC_000008.11:g.103331418C>T	ExAC,gnomAD
rs1465708211	p.Ser678Asn	missense variant	-	NC_000008.11:g.103331421G>A	gnomAD
rs763249133	p.Ser678Arg	missense variant	-	NC_000008.11:g.103331422C>A	ExAC,TOPMed,gnomAD
rs573163067	p.Ser679Gly	missense variant	-	NC_000008.11:g.103331423A>G	1000Genomes,ExAC,gnomAD
rs145137978	p.Leu680Phe	missense variant	-	NC_000008.11:g.103331426C>T	ESP,ExAC,TOPMed,gnomAD
rs145137978	p.Leu680Ile	missense variant	-	NC_000008.11:g.103331426C>A	ESP,ExAC,TOPMed,gnomAD
rs1001359011	p.Lys681Arg	missense variant	-	NC_000008.11:g.103331430A>G	TOPMed,gnomAD
rs1426821574	p.Gly682Ala	missense variant	-	NC_000008.11:g.103331433G>C	gnomAD
NCI-TCGA novel	p.Gly682ArgPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.103331428_103331429insA	NCI-TCGA
rs767514175	p.Ser683Phe	missense variant	-	NC_000008.11:g.103331436C>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr684ArgTerTyrValPheTerSerLeuLeuHis	stop gained	-	NC_000008.11:g.103331440_103331441insAGATAATATGTTTTTTAAAGTCTGCTGCAT	NCI-TCGA
rs1345737229	p.Leu687Phe	missense variant	-	NC_000008.11:g.103331447C>T	gnomAD
rs1437140239	p.Val688Ile	missense variant	-	NC_000008.11:g.103331450G>A	gnomAD
COSM3884269	p.His689Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103331454A>G	NCI-TCGA Cosmic
rs1035910686	p.Pro690Leu	missense variant	-	NC_000008.11:g.103331457C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Pro690Ser	missense variant	-	NC_000008.11:g.103331456C>T	NCI-TCGA
rs1347370815	p.Gln698Pro	missense variant	-	NC_000008.11:g.103331481A>C	TOPMed,gnomAD
rs1275708078	p.Gln698Ter	stop gained	-	NC_000008.11:g.103331480C>T	gnomAD
rs749153508	p.Gly700Ser	missense variant	-	NC_000008.11:g.103331486G>A	ExAC,TOPMed,gnomAD
rs1221924968	p.Gly701Val	missense variant	-	NC_000008.11:g.103331490G>T	gnomAD
rs1350106717	p.Gly701Ser	missense variant	-	NC_000008.11:g.103331489G>A	TOPMed
rs757112285	p.Cys702Tyr	missense variant	-	NC_000008.11:g.103331493G>A	ExAC,gnomAD
rs778666015	p.Ter707Gly	stop lost	-	NC_000008.11:g.103331507T>G	ExAC,gnomAD
rs771707817	p.Ter707Cys	stop lost	-	NC_000008.11:g.103331509A>T	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001430	Adenoma	group	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0011570	Mental Depression	disease	BEFREE
C0011581	Depressive disorder	disease	BEFREE
C0023434	Chronic Lymphocytic Leukemia	disease	BEFREE
C0027339	Nail Diseases	group	CLINVAR
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027794	Neural Tube Defects	group	BEFREE
C0027819	Neuroblastoma	group	BEFREE
C0032019	Pituitary Neoplasms	group	LHGDN
C0037277	Skin Diseases, Genetic	group	BEFREE
C0085661	Onycholysis	disease	BEFREE;HPO
C0263536	Hypertrophy of nail	disease	HPO
C0455988	Hydrops Fetalis, Non-Immune	disease	CLINVAR
C0598766	Leukemogenesis	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1834405	Nail dysplasia	disease	BEFREE
C1851710	LATERAL MENINGOCELE SYNDROME	disease	BEFREE
C1863753	LIMB-MAMMARY SYNDROME	disease	BEFREE
C3279947	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	disease	BEFREE
C3279974	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10	disease	CLINVAR;CTD_human;ORPHANET;UNIPROT
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004930	G protein-coupled receptor activity	IEA
GO:0005515	protein binding	IPI
GO:0017147	Wnt-protein binding	ISS
GO:0017147	Wnt-protein binding	IBA
GO:0017147	Wnt-protein binding	NAS
GO:0031625	ubiquitin protein ligase binding	IPI
GO:0042813	Wnt-activated receptor activity	IDA
GO:0042813	Wnt-activated receptor activity	IBA
GO:0042813	Wnt-activated receptor activity	NAS
GO:0001540	amyloid-beta binding	NAS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001843	neural tube closure	IEA
GO:0001942	hair follicle development	IEA
GO:0007186	G protein-coupled receptor signaling pathway	IEA
GO:0007223	Wnt signaling pathway, calcium modulating pathway	TAS
GO:0030168	platelet activation	IEA
GO:0033278	cell proliferation in midbrain	IEA
GO:0035567	non-canonical Wnt signaling pathway	IDA
GO:0035880	embryonic nail plate morphogenesis	IEA
GO:0042472	inner ear morphogenesis	IEA
GO:0043433	negative regulation of DNA-binding transcription factor activity	IDA
GO:0048105	establishment of body hair planar orientation	IEA
GO:0060070	canonical Wnt signaling pathway	IBA
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	NAS
GO:0090090	negative regulation of canonical Wnt signaling pathway	IMP
GO:1904693	midbrain morphogenesis	TAS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005789	endoplasmic reticulum membrane	ISS
GO:0005886	plasma membrane	IDA
GO:0005886	plasma membrane	IBA
GO:0005886	plasma membrane	TAS
GO:0005887	integral component of plasma membrane	ISS
GO:0009986	cell surface	IEA
GO:0016021	integral component of membrane	IBA
GO:0016324	apical plasma membrane	IEA
GO:0016327	apicolateral plasma membrane	IEA
GO:0030659	cytoplasmic vesicle membrane	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-162582	Signal Transduction	IEA
R-HSA-1643685	Disease	TAS
R-HSA-195721	Signaling by WNT	TAS
R-HSA-195721	Signaling by WNT	IEA
R-HSA-201681	TCF dependent signaling in response to WNT	TAS
R-HSA-372790	Signaling by GPCR	IEA
R-HSA-373080	Class B/2 (Secretin family receptors)	IEA
R-HSA-3858494	Beta-catenin independent WNT signaling	TAS
R-HSA-3858494	Beta-catenin independent WNT signaling	IEA
R-HSA-4086398	Ca2+ pathway	TAS
R-HSA-4086398	Ca2+ pathway	IEA
R-HSA-4086400	PCP/CE pathway	IEA
R-HSA-4086400	PCP/CE pathway	TAS
R-HSA-4641263	Regulation of FZD by ubiquitination	TAS
R-HSA-4791275	Signaling by WNT in cancer	TAS
R-HSA-500792	GPCR ligand binding	IEA
R-HSA-5340588	RNF mutants show enhanced WNT signaling and proliferation	TAS
R-HSA-5663202	Diseases of signal transduction	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C006718	1,12-benzoperylene	1,12-benzoperylene results in increased expression of FZD6 mRNA	26377693
C026486	1,2,5,6-dibenzanthracene	1,2,5,6-dibenzanthracene results in increased expression of FZD6 mRNA	26377693
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in increased expression of FZD6 mRNA	24810058
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of FZD6 mRNA	18648102
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of FZD6 mRNA	19150397; 20018196;
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of FZD6 protein	20106945
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of FZD6 mRNA	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of FZD6 mRNA	25378103
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of FZD6 mRNA	16483693
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of FZD6 mRNA	24449571
C015001	arsenite	arsenite results in increased expression of FZD6 mRNA	18191166
D001397	Azoxymethane	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of FZD6 mRNA	29950665
C030935	benz(a)anthracene	benz(a)anthracene results in increased expression of FZD6 mRNA	26377693
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of FZD6 mRNA	24657404
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of FZD6 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of FZD6 mRNA	26562050
C006780	bisphenol A	bisphenol A results in increased expression of FZD6 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the expression of FZD6 mRNA	21786754
C006780	bisphenol A	bisphenol A results in increased expression of FZD6 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of FZD6 gene	28505145
C000611646	bisphenol F	[bisphenol F co-treated with Tretinoin] results in decreased expression of FZD6 mRNA	30951980
C000611646	bisphenol F	bisphenol F results in increased expression of FZD6 mRNA	30951980
D001761	Bleomycin	MIR101-1 mRNA inhibits the reaction [Bleomycin results in increased expression of FZD6 mRNA]	28726637
D001761	Bleomycin	Bleomycin results in increased expression of FZD6 mRNA	28726637
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of FZD6 mRNA	20883709
D002220	Carbamazepine	Carbamazepine affects the expression of FZD6 mRNA	24752500
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of FZD6 mRNA	17484886
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of FZD6 mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of FZD6 mRNA]	31150632
D003042	Cocaine	Cocaine affects the expression of FZD6 mRNA	20187946
D016572	Cyclosporine	Cyclosporine results in decreased expression of FZD6 mRNA	27989131
D016264	Dextran Sulfate	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of FZD6 mRNA	29950665
D003976	Diazinon	Diazinon affects the expression of FZD6 mRNA	19130878
D003976	Diazinon	Diazinon results in decreased expression of FZD6 mRNA	19130878
D003999	Dichloroacetic Acid	Dichloroacetic Acid results in increased expression of FZD6 mRNA	28962523
D004008	Diclofenac	Diclofenac affects the expression of FZD6 mRNA	24752500
C000944	dicrotophos	dicrotophos results in decreased expression of FZD6 mRNA	28302478
D004026	Dieldrin	Dieldrin affects the expression of FZD6 mRNA	19130878
D013196	Dihydrotestosterone	Dihydrotestosterone results in decreased expression of FZD6 mRNA	17023530
D004317	Doxorubicin	Doxorubicin results in increased expression of FZD6 mRNA	29803840
D004726	Endosulfan	Endosulfan results in decreased expression of FZD6 mRNA	29391264
C118739	entinostat	entinostat results in increased expression of FZD6 mRNA	27188386
D017313	Fenretinide	Fenretinide results in increased expression of FZD6 mRNA	28973697
C082360	fipronil	fipronil results in increased methylation of FZD6 gene	28536466
C039281	furan	furan results in increased expression of FZD6 mRNA	25539665; 27387713;
C004312	glycidol	glycidol results in increased expression of FZD6 mRNA	24395379
C000625835	HFPO2 compound	HFPO2 compound results in increased expression of FZD6 mRNA	27553808
C000625836	HFPO4 compound	HFPO4 compound results in increased expression of FZD6 mRNA	27553808
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of FZD6 mRNA	20044591
C544151	jinfukang	jinfukang results in decreased expression of FZD6 mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of FZD6 mRNA	26830473
C482199	lipopolysaccharide, E coli O55-B5	lipopolysaccharide, E coli O55-B5 results in increased expression of FZD6 mRNA	24972896
D018021	Lithium Chloride	Lithium Chloride results in increased expression of FZD6 mRNA	20069066
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of FZD6 mRNA	28001369
D015735	Mifepristone	Mifepristone results in increased expression of FZD6 mRNA	17584828
C523799	MRK 003	FZD6 results in decreased susceptibility to MRK 003	19903844
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of FZD6 mRNA	25554681
D009532	Nickel	Nickel results in decreased expression of FZD6 mRNA	19130878
C029938	nickel sulfate	nickel sulfate results in increased expression of FZD6 mRNA	22714537
C006253	pirinixic acid	pirinixic acid results in increased expression of FZD6 mRNA	23811191
C027373	potassium chromate(VI)	potassium chromate(VI) results in increased expression of FZD6 mRNA	22714537
D011192	Potassium Dichromate	Potassium Dichromate results in decreased expression of FZD6 mRNA	23608068
D011374	Progesterone	Progesterone results in decreased expression of FZD6 mRNA	19690047
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of FZD6 mRNA	27029645
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride affects the expression of FZD6 mRNA	14699072
C009166	retinol acetate	retinol acetate results in increased expression of FZD6 mRNA	16772331
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of FZD6 mRNA]	31150632
D018030	Silver Compounds	Silver Compounds results in increased expression of FZD6 mRNA	29703973
C009277	sodium arsenate	sodium arsenate results in increased expression of FZD6 mRNA	23922661
C017947	sodium arsenite	sodium arsenite affects the methylation of FZD6 gene	28589171
C017947	sodium arsenite	sodium arsenite results in increased expression of FZD6 mRNA	20883709
D013629	Tamoxifen	Tamoxifen affects the expression of FZD6 mRNA	14699072
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in decreased expression of FZD6 mRNA	25172293
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of FZD6 mRNA	21570461
D013853	Thioacetamide	Thioacetamide results in increased expression of FZD6 mRNA	23411599
C009495	titanium dioxide	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of FZD6 mRNA	29950665
D014212	Tretinoin	Tretinoin results in increased expression of FZD6 mRNA	21934132
D014212	Tretinoin	[bisphenol F co-treated with Tretinoin] results in decreased expression of FZD6 mRNA	30951980
D014241	Trichloroethylene	Trichloroethylene results in increased expression of FZD6 mRNA	15363585
D014241	Trichloroethylene	Trichloroethylene results in increased methylation of FZD6 gene	27618143
D014520	Urethane	Urethane results in increased expression of FZD6 mRNA	28818685
D014635	Valproic Acid	Valproic Acid affects the expression of FZD6 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased methylation of FZD6 gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of FZD6 mRNA	23179753; 27188386;
D014638	Vanadates	Vanadates results in decreased expression of FZD6 mRNA	22714537
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of FZD6 gene	25560391
C025643	vinclozolin	vinclozolin results in increased expression of FZD6 mRNA	23034163
D000077337	Vorinostat	Vorinostat results in increased expression of FZD6 mRNA	27188386

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-1003	Cell membrane
KW-0968	Cytoplasmic vesicle
KW-0217	Developmental protein
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0256	Endoplasmic reticulum
KW-0297	G-protein coupled receptor
KW-0325	Glycoprotein
KW-0472	Membrane
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0675	Receptor
KW-1185	Reference proteome
KW-0732	Signal
KW-0807	Transducer
KW-0812	Transmembrane
KW-1133	Transmembrane helix
KW-0832	Ubl conjugation
KW-0879	Wnt signaling pathway

Interpro

InterPro ID	InterPro Term
IPR015526	Frizzled/SFRP
IPR000539	Frizzled/Smoothened_TM
IPR020067	Frizzled_dom
IPR036790	Frizzled_dom_sf
IPR041770	FZ6_CRD
IPR026543	FZD6
IPR017981	GPCR_2-like

PROSITE

PROSITE ID	PROSITE Term
PS50038	FZ
PS50261	G_PROTEIN_RECEP_F2_4

Pfam

Pfam ID	Pfam Term
PF01534	Frizzled
PF01392	Fz

Gene: FZD6

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