CleftGeneDB-Search

Gene: WDPCP

Basic information

Tag	Content
Uniprot ID	O95876; Q53RW4; Q7Z2Z3;
Entrez ID	51057
Genbank protein ID	AAY24034.1; AAH93754.1; AAH93752.1; AAD20026.1; CAD98100.1;
Genbank nucleotide ID	NM_015910.5; NM_001042692.2;
Ensembl protein ID	ENSP00000381552; ENSP00000387222; ENSP00000272321;
Ensembl nucleotide ID	ENSG00000143951
Gene name	WD repeat-containing and planar cell polarity effector protein fritz homolog
Gene symbol	WDPCP
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Probable effector of the planar cell polarity signaling pathway which regulates the septin cytoskeleton in both ciliogenesis and collective cell movements. Together with FUZ and WDPCP proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies (By similarity).
Sequence	MRREFCWDAY SKAAGSRASS PLPRQDRDSF CHQMSFCLTE LHLWSLKNTL HIADRDIGIY 60 QYYDKKDPPA TEHGNLEKKQ KLAESRDYPW TLKNRRPEKL RDSLKELEEL MQNSRCVLSK 120 WKNKYVCQLL FGSGVLVSLS LSGPQLEKVV IDRSLVGKLI SDTISDALLT DSFIILSFLA 180 QNKLCFIQFT KKMESSDVNK RLEKLSALDY KIFYYEIPGP INKTTERHLA INCVHDRVVC 240 WWPLVNDDAW PWAPISSEKD RANLLLLGYA QGRLEVLSSV RTEWDPLDVR FGTKQPYQVF 300 TVEHSVSVDK EPMADSCIYE CIRNKIQCVS VTRIPLKSKA ISCCRNVTED KLILGCEDSS 360 LILYETHRRV TLLAQTELLP SLISCHPSGA ILLVGSNQGE LQIFDMALSP INIQLLAEDR 420 LPRETLQFSK LFDASSSLVQ MQWIAPQVVS QKGEGSDIYD LLFLRFERGP LGVLLFKLGV 480 FTRGQLGLID IIFQYIHCDE IYEAINILSS MNWDTLGHQC FISMSAIVNH LLRQKLTPER 540 EAQLETSLGT FYAPTRPLLD STILEYRDQI SKYARRFFHH LLRYQRFEKA FLLAVDVGAR 600 DLFMDIHYLA LDKGELALAE VARKRASDID AESITSGVEL LGPLDRGDML NEAFIGLSLA 660 PQGEDSFPDN LPPSCPTHRH ILQQRILNGS SNRQIIDRRN ELEKDICSGF LMTNTCNAED 720 GELREDGREQ EIRDGGSLKM IHFGLV 746

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	WDPCP		F1Q1T8		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	WDPCP		A0A452F7N6		Capra hircus	Prediction	More>>
1:1 ortholog	WDPCP	51057	O95876		Homo sapiens	Prediction	More>>
1:1 ortholog	Wdpcp	216560	Q8C456	CPO	Mus musculus	Publication	More>>
1:1 ortholog	WDPCP	459270	H2R2S2		Pan troglodytes	Prediction	More>>
1:1 ortholog			A0A287AI40		Sus scrofa	Prediction	More>>
1:1 ortholog	Wdpcp		A0A0G2JXB0		Rattus norvegicus	Prediction	More>>
1:1 ortholog	wdpcp	100333125	E7F9Q9		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs201510161	p.Arg2Lys	missense variant	-	NC_000002.12:g.63588267C>T	TOPMed,gnomAD
rs1371805530	p.Arg3Leu	missense variant	-	NC_000002.12:g.63588264C>A	gnomAD
rs763789574	p.Glu4Lys	missense variant	-	NC_000002.12:g.63588262C>T	ExAC,gnomAD
rs1391058974	p.Glu4Gly	missense variant	-	NC_000002.12:g.63588261T>C	gnomAD
rs768802269	p.Phe5Leu	missense variant	-	NC_000002.12:g.63588259A>G	ExAC,TOPMed,gnomAD
RCV000173453	p.Phe5Leu	missense variant	-	NC_000002.12:g.63588259A>G	ClinVar
rs1362032318	p.Cys6Trp	missense variant	-	NC_000002.12:g.63588254G>C	gnomAD
rs1200911623	p.Trp7Cys	missense variant	-	NC_000002.12:g.63588251C>G	TOPMed,gnomAD
rs548483405	p.Asp8Glu	missense variant	-	NC_000002.12:g.63588248G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1454378621	p.Asp8Gly	missense variant	-	NC_000002.12:g.63588249T>C	gnomAD
rs780151486	p.Ala9Pro	missense variant	-	NC_000002.12:g.63588247C>G	ExAC,gnomAD
rs370726731	p.Ser11Phe	missense variant	-	NC_000002.12:g.63588240G>A	ESP
rs377590271	p.Lys12Glu	missense variant	-	NC_000002.12:g.63588238T>C	ESP,gnomAD
rs1259548345	p.Lys12Arg	missense variant	-	NC_000002.12:g.63588237T>C	gnomAD
rs1236091955	p.Ala13Val	missense variant	-	NC_000002.12:g.63588234G>A	gnomAD
rs868406399	p.Ala14Ser	missense variant	-	NC_000002.12:g.63588232C>A	TOPMed
rs868406399	p.Ala14Thr	missense variant	-	NC_000002.12:g.63588232C>T	TOPMed
rs952535961	p.Ser16Arg	missense variant	-	NC_000002.12:g.63588226T>G	TOPMed,gnomAD
rs1319194316	p.Arg17Cys	missense variant	-	NC_000002.12:g.63588223G>A	gnomAD
rs200135406	p.Arg17His	missense variant	-	NC_000002.12:g.63588222C>T	1000Genomes
rs370821757	p.Ala18Val	missense variant	-	NC_000002.12:g.63588219G>A	ExAC,TOPMed,gnomAD
rs1381507084	p.Ala18Thr	missense variant	-	NC_000002.12:g.63588220C>T	gnomAD
rs781606829	p.Ser19Phe	missense variant	-	NC_000002.12:g.63588216G>A	ExAC,TOPMed,gnomAD
rs1435264991	p.Ser20Cys	missense variant	-	NC_000002.12:g.63588213G>C	gnomAD
rs1435264991	p.Ser20Phe	missense variant	-	NC_000002.12:g.63588213G>A	gnomAD
rs1450767741	p.Pro21Leu	missense variant	-	NC_000002.12:g.63588210G>A	TOPMed,gnomAD
rs1171221373	p.Pro21Ser	missense variant	-	NC_000002.12:g.63588211G>A	gnomAD
rs1450767741	p.Pro21Arg	missense variant	-	NC_000002.12:g.63588210G>C	TOPMed,gnomAD
rs1005379118	p.Leu22Val	missense variant	-	NC_000002.12:g.63588208G>C	TOPMed,gnomAD
rs1005379118	p.Leu22Phe	missense variant	-	NC_000002.12:g.63588208G>A	TOPMed,gnomAD
rs141340867	p.Pro23Leu	missense variant	-	NC_000002.12:g.63588204G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141340867	p.Pro23Gln	missense variant	-	NC_000002.12:g.63588204G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000438895	p.Pro23Gln	missense variant	-	NC_000002.12:g.63588204G>T	ClinVar
rs906798293	p.Arg24Lys	missense variant	-	NC_000002.12:g.63588201C>T	gnomAD
rs1197970797	p.Gln25Arg	missense variant	-	NC_000002.12:g.63588198T>C	TOPMed
rs1324126661	p.Gln25Lys	missense variant	-	NC_000002.12:g.63588199G>T	TOPMed
NCI-TCGA novel	p.Asp26Asn	missense variant	-	NC_000002.12:g.63492940C>T	NCI-TCGA
rs369968640	p.Arg27Lys	missense variant	-	NC_000002.12:g.63492936C>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Asp28Asn	missense variant	-	NC_000002.12:g.63492934C>T	NCI-TCGA
rs1217604830	p.Asp28Tyr	missense variant	-	NC_000002.12:g.63492934C>A	TOPMed
RCV000296966	p.Asp28Val	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63492933T>A	ClinVar
rs144703991	p.Asp28Val	missense variant	-	NC_000002.12:g.63492933T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1316436299	p.Ser29Phe	missense variant	-	NC_000002.12:g.63492930G>A	TOPMed
rs1453842199	p.Cys31Tyr	missense variant	-	NC_000002.12:g.63492924C>T	gnomAD
rs1014621428	p.Gln33Ter	stop gained	-	NC_000002.12:g.63492919G>A	TOPMed
rs1233974354	p.Met34Ile	missense variant	-	NC_000002.12:g.63492914C>T	TOPMed
rs773513195	p.Met34Val	missense variant	-	NC_000002.12:g.63492916T>C	ExAC,gnomAD
rs1488418430	p.Ser35Pro	missense variant	-	NC_000002.12:g.63492913A>G	TOPMed
rs772412784	p.Leu41Met	missense variant	-	NC_000002.12:g.63492895G>T	ExAC,gnomAD
rs747767839	p.His42Tyr	missense variant	-	NC_000002.12:g.63492892G>A	ExAC,TOPMed,gnomAD
rs1280928455	p.Trp44Arg	missense variant	-	NC_000002.12:g.63492886A>G	gnomAD
rs1232978776	p.Ser45Ala	missense variant	-	NC_000002.12:g.63492883A>C	gnomAD
rs754565778	p.Leu46Ser	missense variant	-	NC_000002.12:g.63492879A>G	ExAC,TOPMed,gnomAD
rs1297341497	p.Lys47Asn	missense variant	-	NC_000002.12:g.63492875C>A	gnomAD
rs779689937	p.His51Tyr	missense variant	-	NC_000002.12:g.63492865G>A	ExAC,gnomAD
rs1288682629	p.Ile52Leu	missense variant	-	NC_000002.12:g.63492862T>G	gnomAD
rs149347732	p.Ala53Val	missense variant	-	NC_000002.12:g.63492858G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000851198	p.Asp54Asn	missense variant	Orofaciodigital syndromes	NC_000002.12:g.63492856C>T	ClinVar
NCI-TCGA novel	p.Asp54Ala	missense variant	-	NC_000002.12:g.63487494T>G	NCI-TCGA
rs200322968	p.Asp54Asn	missense variant	-	NC_000002.12:g.63492856C>T	ESP,ExAC,TOPMed,gnomAD
RCV000000064	p.Arg55Lys	missense variant	Meckel syndrome, type 6, modifier of	NC_000002.12:g.63487491C>T	ClinVar
rs267606693	p.Arg55Lys	missense variant	-	NC_000002.12:g.63487491C>T	UniProt,dbSNP
VAR_064770	p.Arg55Lys	missense variant	-	NC_000002.12:g.63487491C>T	UniProt
rs267606693	p.Arg55Lys	missense variant	-	NC_000002.12:g.63487491C>T	gnomAD
rs375016562	p.Asp56His	missense variant	-	NC_000002.12:g.63487489C>G	ESP,ExAC,TOPMed,gnomAD
rs757037739	p.Ile57Thr	missense variant	-	NC_000002.12:g.63487485A>G	ExAC,gnomAD
rs190629484	p.Gly58Arg	missense variant	-	NC_000002.12:g.63487483C>T	1000Genomes,ExAC,gnomAD
RCV000206601	p.Ile59Asn	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63487479A>T	ClinVar
RCV000765695	p.Ile59Asn	missense variant	Orstavik Lindemann Solberg syndrome (CHDTHP)	NC_000002.12:g.63487479A>T	ClinVar
rs202196322	p.Ile59Asn	missense variant	-	NC_000002.12:g.63487479A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln61His	missense variant	-	NC_000002.12:g.63487472C>A	NCI-TCGA
COSM443089	p.Gln61Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.63487474G>A	NCI-TCGA Cosmic
rs766457834	p.Tyr63Cys	missense variant	-	NC_000002.12:g.63487467T>C	ExAC,gnomAD
rs753990383	p.Tyr63Asp	missense variant	-	NC_000002.12:g.63487468A>C	ExAC,TOPMed,gnomAD
rs760757593	p.Asp64Ala	missense variant	-	NC_000002.12:g.63487464T>G	ExAC,TOPMed,gnomAD
rs201067142	p.Asp64His	missense variant	-	NC_000002.12:g.63487465C>G	1000Genomes
rs750924240	p.Lys65Glu	missense variant	-	NC_000002.12:g.63487462T>C	ExAC,TOPMed,gnomAD
rs768109210	p.Asp67Asn	missense variant	-	NC_000002.12:g.63487456C>T	ExAC,gnomAD
COSM1565512	p.Pro68Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63487453G>T	NCI-TCGA Cosmic
rs1443379922	p.Pro68Ala	missense variant	-	NC_000002.12:g.63487453G>C	gnomAD
rs141761524	p.Ala70Val	missense variant	-	NC_000002.12:g.63486586G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1255148028	p.Ala70Thr	missense variant	-	NC_000002.12:g.63487447C>T	TOPMed
rs752047428	p.Thr71Ile	missense variant	-	NC_000002.12:g.63486583G>A	ExAC,TOPMed,gnomAD
rs1481685257	p.His73Arg	missense variant	-	NC_000002.12:g.63486577T>C	TOPMed
rs368745542	p.Gly74Asp	missense variant	-	NC_000002.12:g.63486574C>T	ESP,ExAC,TOPMed,gnomAD
rs200170138	p.Gly74Arg	missense variant	-	NC_000002.12:g.63486575C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775316027	p.Leu76Val	missense variant	-	NC_000002.12:g.63486569A>C	ExAC,gnomAD
rs1196288563	p.Leu76Ser	missense variant	-	NC_000002.12:g.63486568A>G	TOPMed,gnomAD
rs1448313453	p.Glu77Lys	missense variant	-	NC_000002.12:g.63486566C>T	gnomAD
rs1206045016	p.Lys81Asn	missense variant	-	NC_000002.12:g.63486552C>A	TOPMed,gnomAD
rs545984327	p.Lys81Arg	missense variant	-	NC_000002.12:g.63486553T>C	1000Genomes,ExAC,gnomAD
rs201399904	p.Glu84Asp	missense variant	-	NC_000002.12:g.63486543C>A	ExAC,TOPMed,gnomAD
RCV000312569	p.Ser85Leu	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63484987G>A	ClinVar
rs866240226	p.Ser85Ala	missense variant	-	NC_000002.12:g.63486542A>C	TOPMed,gnomAD
rs886056225	p.Ser85Leu	missense variant	-	NC_000002.12:g.63484987G>A	-
rs757397946	p.Arg86Ter	stop gained	-	NC_000002.12:g.63484985G>A	ExAC,TOPMed,gnomAD
rs1338130714	p.Arg86Gln	missense variant	-	NC_000002.12:g.63484984C>T	TOPMed,gnomAD
rs752158034	p.Tyr88Asp	missense variant	-	NC_000002.12:g.63484979A>C	ExAC,gnomAD
rs764662816	p.Pro89Leu	missense variant	-	NC_000002.12:g.63484975G>A	ExAC,gnomAD
rs1055592959	p.Trp90Gly	missense variant	-	NC_000002.12:g.63484973A>C	TOPMed,gnomAD
rs758930140	p.Trp90Cys	missense variant	-	NC_000002.12:g.63484971C>A	ExAC,gnomAD
rs1055592959	p.Trp90Arg	missense variant	-	NC_000002.12:g.63484973A>G	TOPMed,gnomAD
RCV000550599	p.Thr91Met	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63484969G>A	ClinVar
rs753130718	p.Thr91Met	missense variant	-	NC_000002.12:g.63484969G>A	ExAC,TOPMed,gnomAD
RCV000722999	p.Lys93Ter	nonsense	-	NC_000002.12:g.63484964T>A	ClinVar
rs1188000133	p.Lys93Ter	stop gained	-	NC_000002.12:g.63484964T>A	gnomAD
rs776137173	p.Lys93Arg	missense variant	-	NC_000002.12:g.63484963T>C	ExAC,gnomAD
COSM1022204	p.Arg96His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63484954C>T	NCI-TCGA Cosmic
rs375338402	p.Arg96Cys	missense variant	-	NC_000002.12:g.63484955G>A	ExAC,TOPMed,gnomAD
rs760148866	p.Pro97Thr	missense variant	-	NC_000002.12:g.63484952G>T	ExAC,gnomAD
rs772670414	p.Lys99Arg	missense variant	-	NC_000002.12:g.63484945T>C	ExAC,gnomAD
rs772019517	p.Lys99Asn	missense variant	-	NC_000002.12:g.63484944T>G	ExAC,gnomAD
rs748021209	p.Leu100Pro	missense variant	-	NC_000002.12:g.63484942A>G	ExAC,gnomAD
rs772536466	p.Arg101Gly	missense variant	-	NC_000002.12:g.63484940G>C	ExAC,TOPMed,gnomAD
rs746158542	p.Arg101Gln	missense variant	-	NC_000002.12:g.63484939C>T	ExAC,TOPMed,gnomAD
rs772536466	p.Arg101Ter	stop gained	-	NC_000002.12:g.63484940G>A	ExAC,TOPMed,gnomAD
rs757449444	p.Asp102Asn	missense variant	-	NC_000002.12:g.63484937C>T	ExAC,TOPMed,gnomAD
rs747112954	p.Asp102Val	missense variant	-	NC_000002.12:g.63484936T>A	ExAC,gnomAD
rs757449444	p.Asp102His	missense variant	-	NC_000002.12:g.63484937C>G	ExAC,TOPMed,gnomAD
rs376758858	p.Ser103Leu	missense variant	-	NC_000002.12:g.63484933G>A	ESP,ExAC,TOPMed,gnomAD
rs1443820481	p.Leu104Pro	missense variant	-	NC_000002.12:g.63484930A>G	gnomAD
rs1335849245	p.Lys105Arg	missense variant	-	NC_000002.12:g.63484927T>C	gnomAD
rs1444169850	p.Glu106Gln	missense variant	-	NC_000002.12:g.63484925C>G	TOPMed,gnomAD
rs1187958864	p.Glu106Asp	missense variant	-	NC_000002.12:g.63484923C>A	gnomAD
NCI-TCGA novel	p.Glu108Lys	missense variant	-	NC_000002.12:g.63484919C>T	NCI-TCGA
rs778069760	p.Met111Ile	missense variant	-	NC_000002.12:g.63484655C>T	ExAC,TOPMed,gnomAD
rs990151659	p.Met111Val	missense variant	-	NC_000002.12:g.63484657T>C	TOPMed,gnomAD
rs990151659	p.Met111Leu	missense variant	-	NC_000002.12:g.63484657T>A	TOPMed,gnomAD
rs1392647874	p.Met111Thr	missense variant	-	NC_000002.12:g.63484656A>G	TOPMed
rs758543575	p.Gln112Glu	missense variant	-	NC_000002.12:g.63484654G>C	ExAC,TOPMed,gnomAD
rs1338335449	p.Ser114Arg	missense variant	-	NC_000002.12:g.63484646A>C	TOPMed
rs1244796163	p.Arg115Trp	missense variant	-	NC_000002.12:g.63484645G>A	gnomAD
rs748871007	p.Arg115Gln	missense variant	-	NC_000002.12:g.63484644C>T	ExAC,gnomAD
rs779260550	p.Cys116Gly	missense variant	-	NC_000002.12:g.63484642A>C	ExAC,gnomAD
rs755473278	p.Lys120Asn	missense variant	-	NC_000002.12:g.63484628T>A	ExAC,gnomAD
rs1349404366	p.Lys124Arg	missense variant	-	NC_000002.12:g.63484617T>C	gnomAD
rs1434073076	p.Tyr125Cys	missense variant	-	NC_000002.12:g.63484614T>C	TOPMed,gnomAD
rs754178598	p.Cys127Tyr	missense variant	-	NC_000002.12:g.63484608C>T	ExAC,gnomAD
rs769057996	p.Leu129Pro	missense variant	-	NC_000002.12:g.63439870A>G	ExAC,gnomAD
rs191796211	p.Leu129Val	missense variant	-	NC_000002.12:g.63439871G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756456362	p.Leu136Pro	missense variant	-	NC_000002.12:g.63439849A>G	ExAC,TOPMed,gnomAD
rs369357607	p.Val137Met	missense variant	-	NC_000002.12:g.63439847C>T	ESP,TOPMed
rs780789710	p.Val137Ala	missense variant	-	NC_000002.12:g.63439846A>G	ExAC,gnomAD
rs756891717	p.Ser138Phe	missense variant	-	NC_000002.12:g.63439843G>A	ExAC,TOPMed,gnomAD
rs1438057652	p.Ser140Gly	missense variant	-	NC_000002.12:g.63439838T>C	TOPMed
NCI-TCGA novel	p.Ser142Phe	missense variant	-	NC_000002.12:g.63439831G>A	NCI-TCGA
rs529607482	p.Ser142Pro	missense variant	-	NC_000002.12:g.63439832A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs769734014	p.Pro144Leu	missense variant	-	NC_000002.12:g.63439825G>A	gnomAD
rs759376788	p.Glu147Lys	missense variant	-	NC_000002.12:g.63439817C>T	ExAC,gnomAD
rs1257847763	p.Val150Leu	missense variant	-	NC_000002.12:g.63439808C>A	gnomAD
rs776529473	p.Ile151Leu	missense variant	-	NC_000002.12:g.63439805T>G	ExAC,gnomAD
rs1295892247	p.Ile151Thr	missense variant	-	NC_000002.12:g.63439804A>G	TOPMed
NCI-TCGA novel	p.Asp152Tyr	missense variant	-	NC_000002.12:g.63439802C>A	NCI-TCGA
rs562112451	p.Asp152Asn	missense variant	-	NC_000002.12:g.63439802C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Val156Ala	missense variant	-	NC_000002.12:g.63439789A>G	NCI-TCGA
rs1344539774	p.Val156Met	missense variant	-	NC_000002.12:g.63439790C>T	TOPMed
rs762038165	p.Gly157Arg	missense variant	-	NC_000002.12:g.63439787C>T	ExAC,gnomAD
rs1395587134	p.Lys158Arg	missense variant	-	NC_000002.12:g.63439783T>C	gnomAD
rs1377092750	p.Leu159Phe	missense variant	-	NC_000002.12:g.63439781G>A	gnomAD
rs749818404	p.Asp162Val	missense variant	-	NC_000002.12:g.63439771T>A	ExAC,gnomAD
rs1462790647	p.Thr163Ala	missense variant	-	NC_000002.12:g.63439769T>C	gnomAD
rs1223959785	p.Ile164Val	missense variant	-	NC_000002.12:g.63439766T>C	TOPMed
rs770183610	p.Ile164Thr	missense variant	-	NC_000002.12:g.63439765A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser165MetPheSerTerUnk	frameshift	-	NC_000002.12:g.63439762_63439763insA	NCI-TCGA
rs747737680	p.Thr170Arg	missense variant	-	NC_000002.12:g.63437545G>C	ExAC,gnomAD
rs1396072178	p.Asp171Gly	missense variant	-	NC_000002.12:g.63437542T>C	gnomAD
rs778635559	p.Asp171Glu	missense variant	-	NC_000002.12:g.63437541G>C	ExAC,TOPMed
rs1396072178	p.Asp171Val	missense variant	-	NC_000002.12:g.63437542T>A	gnomAD
rs1314222946	p.Asp171Asn	missense variant	-	NC_000002.12:g.63437543C>T	TOPMed,gnomAD
rs1170432187	p.Ser172Arg	missense variant	-	NC_000002.12:g.63437540T>G	TOPMed,gnomAD
rs1426237499	p.Ile174Val	missense variant	-	NC_000002.12:g.63437534T>C	gnomAD
rs768268182	p.Leu179Ser	missense variant	-	NC_000002.12:g.63437518A>G	ExAC,gnomAD
rs1477809561	p.Ala180Pro	missense variant	-	NC_000002.12:g.63437516C>G	gnomAD
rs1477809561	p.Ala180Ser	missense variant	-	NC_000002.12:g.63437516C>A	gnomAD
rs1027501157	p.Gln181Arg	missense variant	-	NC_000002.12:g.63437512T>C	gnomAD
rs749286148	p.Gln181Ter	stop gained	-	NC_000002.12:g.63437513G>A	ExAC,gnomAD
rs1198983391	p.Leu184Pro	missense variant	-	NC_000002.12:g.63437503A>G	TOPMed
RCV000150108	p.Cys185Ter	frameshift	Orstavik Lindemann Solberg syndrome (CHDTHP)	NC_000002.12:g.63437502_63437503del	ClinVar
rs780009570	p.Ile187Phe	missense variant	-	NC_000002.12:g.63437495T>A	ExAC,TOPMed,gnomAD
rs1258495413	p.Gln188His	missense variant	-	NC_000002.12:g.63437490C>A	gnomAD
rs1217761219	p.Thr190Ser	missense variant	-	NC_000002.12:g.63437485G>C	gnomAD
rs1254476772	p.Thr190Ala	missense variant	-	NC_000002.12:g.63437486T>C	gnomAD
NCI-TCGA novel	p.Lys192Asn	missense variant	-	NC_000002.12:g.63437478C>A	NCI-TCGA
rs1181283818	p.Lys192Glu	missense variant	-	NC_000002.12:g.63437480T>C	TOPMed
rs755962906	p.Met193Lys	missense variant	-	NC_000002.12:g.63437476A>T	ExAC,gnomAD
rs750252971	p.Glu194Gly	missense variant	-	NC_000002.12:g.63437473T>C	ExAC,TOPMed,gnomAD
rs1213373814	p.Val198Ile	missense variant	-	NC_000002.12:g.63437462C>T	gnomAD
rs755986494	p.Asn199Ser	missense variant	-	NC_000002.12:g.63437458T>C	ExAC,TOPMed,gnomAD
COSM1022202	p.Arg201Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63437452C>A	NCI-TCGA Cosmic
rs1376686758	p.Arg201Gly	missense variant	-	NC_000002.12:g.63437453T>C	TOPMed
rs1013955472	p.Glu203Gly	missense variant	-	NC_000002.12:g.63437446T>C	gnomAD
rs758621899	p.Glu203Asp	missense variant	-	NC_000002.12:g.63437445T>A	ExAC,gnomAD
NCI-TCGA novel	p.Lys204AsnPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.63437442T>-	NCI-TCGA
COSM1022201	p.Leu205Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63437440A>G	NCI-TCGA Cosmic
VAR_064771	p.Leu205Phe	Missense	-	-	UniProt
rs267606692	p.Leu208Phe	missense variant	-	NC_000002.12:g.63437430C>G	-
RCV000000063	p.Leu208Phe	missense variant	Bardet-Biedl syndrome 12, modifier of	NC_000002.12:g.63437430C>G	ClinVar
RCV000778622	p.Lys211Ter	frameshift	Bardet-Biedl syndrome 15 (BBS15)	NC_000002.12:g.63437423_63437424TA[3]	ClinVar
rs755148252	p.Ile212Leu	missense variant	-	NC_000002.12:g.63433936T>G	ExAC,gnomAD
rs753967458	p.Tyr214Cys	missense variant	-	NC_000002.12:g.63433929T>C	ExAC,gnomAD
rs1333840784	p.Glu216Gly	missense variant	-	NC_000002.12:g.63433923T>C	TOPMed,gnomAD
rs1377962528	p.Pro218Ser	missense variant	-	NC_000002.12:g.63433918G>A	TOPMed
rs1418335534	p.Pro218Arg	missense variant	-	NC_000002.12:g.63433917G>C	TOPMed
NCI-TCGA novel	p.Gly219Asp	missense variant	-	NC_000002.12:g.63433914C>T	NCI-TCGA
rs761312526	p.Gly219Ser	missense variant	-	NC_000002.12:g.63433915C>T	ExAC,TOPMed,gnomAD
rs768043376	p.Ile221Lys	missense variant	-	NC_000002.12:g.63433908A>T	ExAC,TOPMed,gnomAD
rs571641878	p.Ile221Val	missense variant	-	NC_000002.12:g.63433909T>C	1000Genomes,ExAC,gnomAD
rs1361250061	p.Asn222Ser	missense variant	-	NC_000002.12:g.63433905T>C	gnomAD
NCI-TCGA novel	p.Glu226Ter	stop gained	-	NC_000002.12:g.63433894C>A	NCI-TCGA
rs1342443395	p.Glu226Asp	missense variant	-	NC_000002.12:g.63433892C>A	TOPMed
rs774816454	p.Glu226Val	missense variant	-	NC_000002.12:g.63433893T>A	ExAC,TOPMed,gnomAD
rs763859638	p.Arg227Gln	missense variant	-	NC_000002.12:g.63433890C>T	ExAC,gnomAD
rs894887380	p.Arg227Ter	stop gained	-	NC_000002.12:g.63433891G>A	gnomAD
rs762453550	p.Leu229Val	missense variant	-	NC_000002.12:g.63433885G>C	ExAC,gnomAD
rs937072665	p.Ala230Thr	missense variant	-	NC_000002.12:g.63433882C>T	TOPMed
rs372998753	p.Ala230Gly	missense variant	-	NC_000002.12:g.63433881G>C	ESP,ExAC,gnomAD
rs769180655	p.Ile231Val	missense variant	-	NC_000002.12:g.63433879T>C	ExAC,TOPMed,gnomAD
COSM1022200	p.Asn232Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63433874G>T	NCI-TCGA Cosmic
rs1284717514	p.Asn232Ser	missense variant	-	NC_000002.12:g.63433875T>C	gnomAD
rs1308555938	p.Asn232Asp	missense variant	-	NC_000002.12:g.63433876T>C	TOPMed
rs547119553	p.Cys233Tyr	missense variant	-	NC_000002.12:g.63433872C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1278881318	p.Val234Phe	missense variant	-	NC_000002.12:g.63433870C>A	gnomAD
rs567879550	p.His235Leu	missense variant	-	NC_000002.12:g.63433866T>A	gnomAD
rs770819356	p.His235Tyr	missense variant	-	NC_000002.12:g.63433867G>A	ExAC,gnomAD
rs567879550	p.His235Pro	missense variant	-	NC_000002.12:g.63433866T>G	gnomAD
COSM3799114	p.Val238Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63433857A>G	NCI-TCGA Cosmic
rs1297712553	p.Trp241Cys	missense variant	-	NC_000002.12:g.63433847C>A	gnomAD
rs755235681	p.Pro243Ser	missense variant	-	NC_000002.12:g.63433843G>A	ExAC,TOPMed,gnomAD
rs368933340	p.Pro243Leu	missense variant	-	NC_000002.12:g.63433842G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756126533	p.Asn246Asp	missense variant	-	NC_000002.12:g.63433834T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asn246Ser	missense variant	-	NC_000002.12:g.63433833T>C	NCI-TCGA
rs376249713	p.Asp247Asn	missense variant	-	NC_000002.12:g.63433831C>T	ESP,ExAC,TOPMed,gnomAD
rs982994460	p.Trp250Leu	missense variant	-	NC_000002.12:g.63433821C>A	TOPMed,gnomAD
rs1375700007	p.Pro251Leu	missense variant	-	NC_000002.12:g.63433818G>A	gnomAD
rs1235824613	p.Trp252Gly	missense variant	-	NC_000002.12:g.63433816A>C	TOPMed
rs751984110	p.Ala253Val	missense variant	-	NC_000002.12:g.63433812G>A	ExAC,gnomAD
rs531251663	p.Ala253Ser	missense variant	-	NC_000002.12:g.63433813C>A	1000Genomes,ExAC,gnomAD
rs1208991441	p.Pro254Ala	missense variant	-	NC_000002.12:g.63433810G>C	gnomAD
rs764485190	p.Ile255Val	missense variant	-	NC_000002.12:g.63433807T>C	ExAC,TOPMed,gnomAD
rs764485190	p.Ile255Phe	missense variant	-	NC_000002.12:g.63433807T>A	ExAC,TOPMed,gnomAD
rs1261685009	p.Ser256Ala	missense variant	-	NC_000002.12:g.63433804A>C	gnomAD
COSM3582547	p.Ser256Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63433803G>A	NCI-TCGA Cosmic
rs774989844	p.Ser257Phe	missense variant	-	NC_000002.12:g.63433800G>A	ExAC,gnomAD
rs762730482	p.Ser257Pro	missense variant	-	NC_000002.12:g.63433801A>G	ExAC,gnomAD
rs1213265788	p.Lys259Arg	missense variant	-	NC_000002.12:g.63433794T>C	gnomAD
rs758933889	p.Asp260Glu	missense variant	-	NC_000002.12:g.63433790G>C	ExAC,TOPMed,gnomAD
rs758933889	p.Asp260Glu	missense variant	-	NC_000002.12:g.63433790G>T	ExAC,TOPMed,gnomAD
rs776074518	p.Arg261Gly	missense variant	-	NC_000002.12:g.63433789T>C	ExAC,gnomAD
rs770872721	p.Asn263His	missense variant	-	NC_000002.12:g.63433783T>G	ExAC
rs1366001942	p.Leu264Pro	missense variant	-	NC_000002.12:g.63433779A>G	gnomAD
COSM1721594	p.Leu266Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63433774G>A	NCI-TCGA Cosmic
rs17617459	p.Gly268Ser	missense variant	-	NC_000002.12:g.63433768C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000395293	p.Gly268Ser	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63433768C>T	ClinVar
rs749575727	p.Tyr269Cys	missense variant	-	NC_000002.12:g.63433764T>C	ExAC,TOPMed,gnomAD
rs1374748295	p.Tyr269His	missense variant	-	NC_000002.12:g.63433765A>G	TOPMed
rs1309852123	p.Ala270Thr	missense variant	-	NC_000002.12:g.63433762C>T	TOPMed
rs1231005358	p.Leu274Gln	missense variant	-	NC_000002.12:g.63433749A>T	TOPMed
NCI-TCGA novel	p.Glu275Lys	missense variant	-	NC_000002.12:g.63433747C>T	NCI-TCGA
rs1416119169	p.Leu277Val	missense variant	-	NC_000002.12:g.63404654G>C	gnomAD
rs199751945	p.Ser279Cys	missense variant	-	NC_000002.12:g.63404647G>C	1000Genomes
rs985656097	p.Val280Ile	missense variant	-	NC_000002.12:g.63404645C>T	TOPMed,gnomAD
rs985656097	p.Val280Leu	missense variant	-	NC_000002.12:g.63404645C>G	TOPMed,gnomAD
rs747564290	p.Arg281Cys	missense variant	-	NC_000002.12:g.63404642G>A	ExAC,TOPMed,gnomAD
rs3738877	p.Arg281His	missense variant	-	NC_000002.12:g.63404641C>T	ESP,ExAC,TOPMed,gnomAD
rs1241185405	p.Thr282Arg	missense variant	-	NC_000002.12:g.63404638G>C	gnomAD
COSM3582545	p.Trp284Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.63404631C>T	NCI-TCGA Cosmic
rs758895280	p.Asp285Gly	missense variant	-	NC_000002.12:g.63404629T>C	ExAC,gnomAD
rs367653779	p.Pro286Ser	missense variant	-	NC_000002.12:g.63404627G>A	ESP,ExAC,TOPMed,gnomAD
rs367653779	p.Pro286Thr	missense variant	-	NC_000002.12:g.63404627G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp288Asn	missense variant	-	NC_000002.12:g.63404621C>T	NCI-TCGA
rs779272205	p.Asp288Ala	missense variant	-	NC_000002.12:g.63404620T>G	ExAC,gnomAD
NCI-TCGA novel	p.Val289Ala	missense variant	-	NC_000002.12:g.63404617A>G	NCI-TCGA
rs753480088	p.Arg290His	missense variant	-	NC_000002.12:g.63404614C>T	ExAC,TOPMed,gnomAD
rs374934704	p.Arg290Cys	missense variant	-	NC_000002.12:g.63404615G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly292Asp	missense variant	-	NC_000002.12:g.63404608C>T	NCI-TCGA
rs1052730770	p.Gly292Val	missense variant	-	NC_000002.12:g.63404608C>A	TOPMed
rs765923597	p.Thr293Ser	missense variant	-	NC_000002.12:g.63404605G>C	ExAC,TOPMed,gnomAD
rs200415678	p.Lys294Glu	missense variant	-	NC_000002.12:g.63404603T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr297His	missense variant	-	NC_000002.12:g.63404594A>G	NCI-TCGA
rs1230955367	p.Thr301Ile	missense variant	-	NC_000002.12:g.63404581G>A	TOPMed
rs749897540	p.His304Gln	missense variant	-	NC_000002.12:g.63404571G>C	ExAC,TOPMed,gnomAD
rs1015241062	p.Ser305Ala	missense variant	-	NC_000002.12:g.63404570A>C	TOPMed,gnomAD
rs761751600	p.Val306Ile	missense variant	-	NC_000002.12:g.63404567C>T	ExAC,gnomAD
rs983808509	p.Ser307Asn	missense variant	-	NC_000002.12:g.63404563C>T	TOPMed,gnomAD
rs759892208	p.Asp309Val	missense variant	-	NC_000002.12:g.63404557T>A	ExAC,TOPMed,gnomAD
rs768493342	p.Asp309His	missense variant	-	NC_000002.12:g.63404558C>G	ExAC
rs776966886	p.Lys310Glu	missense variant	-	NC_000002.12:g.63404555T>C	ExAC,gnomAD
rs771172633	p.Glu311Asp	missense variant	-	NC_000002.12:g.63404550C>G	ExAC,TOPMed,gnomAD
rs771172633	p.Glu311Asp	missense variant	-	NC_000002.12:g.63404550C>A	ExAC,TOPMed,gnomAD
rs1262725557	p.Met313Leu	missense variant	-	NC_000002.12:g.63404546T>G	gnomAD
rs1455098597	p.Cys317Ser	missense variant	-	NC_000002.12:g.63404534A>T	TOPMed
rs747114578	p.Ile318Val	missense variant	-	NC_000002.12:g.63404531T>C	ExAC,TOPMed,gnomAD
rs863224771	p.Tyr319Asp	missense variant	-	NC_000002.12:g.63404528A>C	-
RCV000198017	p.Tyr319Asp	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63404528A>C	ClinVar
rs1300287369	p.Glu320Lys	missense variant	-	NC_000002.12:g.63404525C>T	gnomAD
rs545767612	p.Arg323Trp	missense variant	-	NC_000002.12:g.63404516G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs991936622	p.Arg323Gln	missense variant	-	NC_000002.12:g.63404515C>T	TOPMed,gnomAD
rs1168767530	p.Ile326Val	missense variant	-	NC_000002.12:g.63404507T>C	TOPMed
rs182144885	p.Gln327Ter	stop gained	-	NC_000002.12:g.63404504G>A	1000Genomes,TOPMed,gnomAD
RCV000224332	p.Val329Met	missense variant	-	NC_000002.12:g.63404498C>T	ClinVar
rs199959383	p.Val329Met	missense variant	-	NC_000002.12:g.63404498C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000173873	p.Ser330Leu	missense variant	-	NC_000002.12:g.63404494G>A	ClinVar
rs374189367	p.Ser330Leu	missense variant	-	NC_000002.12:g.63404494G>A	ESP,ExAC,TOPMed,gnomAD
rs376497851	p.Val331Phe	missense variant	-	NC_000002.12:g.63404492C>A	ESP
COSM4095102	p.Thr332Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63404488G>C	NCI-TCGA Cosmic
rs1378603364	p.Thr332Ala	missense variant	-	NC_000002.12:g.63404489T>C	gnomAD
rs541722180	p.Arg333Thr	missense variant	-	NC_000002.12:g.63404485C>G	1000Genomes,ExAC,gnomAD
rs1434318883	p.Ile334Val	missense variant	-	NC_000002.12:g.63404483T>C	TOPMed
rs1295089252	p.Pro335Leu	missense variant	-	NC_000002.12:g.63404479G>A	TOPMed
COSM270816	p.Ser338Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.63404470G>T	NCI-TCGA Cosmic
rs753529416	p.Lys339Asn	missense variant	-	NC_000002.12:g.63404466C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala340Val	missense variant	-	NC_000002.12:g.63404464G>A	NCI-TCGA
rs779714128	p.Ala340Ser	missense variant	-	NC_000002.12:g.63404465C>A	ExAC,TOPMed,gnomAD
rs1353827994	p.Ile341Val	missense variant	-	NC_000002.12:g.63404462T>C	TOPMed
COSM259814	p.Ser342Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63404458C>T	NCI-TCGA Cosmic
rs755715881	p.Cys343Tyr	missense variant	-	NC_000002.12:g.63404455C>T	ExAC,TOPMed,gnomAD
rs772944911	p.Arg345Thr	missense variant	-	NC_000002.12:g.63404449C>G	ExAC,gnomAD
rs766982680	p.Asn346Ser	missense variant	-	NC_000002.12:g.63404446T>C	ExAC,gnomAD
rs751500756	p.Thr348Pro	missense variant	-	NC_000002.12:g.63404441T>G	ExAC,gnomAD
rs1320002594	p.Glu349Lys	missense variant	-	NC_000002.12:g.63404438C>T	gnomAD
rs1469275937	p.Asp350Gly	missense variant	-	NC_000002.12:g.63404434T>C	TOPMed
rs1278753501	p.Lys351Asn	missense variant	-	NC_000002.12:g.63404430T>G	gnomAD
rs373387599	p.Leu352Gln	missense variant	-	NC_000002.12:g.63404428A>T	ESP,ExAC,TOPMed,gnomAD
COSM69946	p.Gly355Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63404420C>A	NCI-TCGA Cosmic
rs1234529209	p.Gly355Ser	missense variant	-	NC_000002.12:g.63404420C>T	TOPMed,gnomAD
rs762801097	p.Cys356Tyr	missense variant	-	NC_000002.12:g.63404416C>T	ExAC,TOPMed,gnomAD
rs775383194	p.Asp358Val	missense variant	-	NC_000002.12:g.63404410T>A	ExAC,gnomAD
RCV000295044	p.Ser360Leu	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63404404G>A	ClinVar
rs141011629	p.Ser360Ter	stop gained	-	NC_000002.12:g.63404404G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1334984869	p.Ser360Pro	missense variant	-	NC_000002.12:g.63404405A>G	gnomAD
rs141011629	p.Ser360Leu	missense variant	-	NC_000002.12:g.63404404G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1468559179	p.Tyr364Phe	missense variant	-	NC_000002.12:g.63404392T>A	gnomAD
rs1403157274	p.Tyr364Ter	stop gained	-	NC_000002.12:g.63404391A>C	gnomAD
rs201662623	p.Glu365Gly	missense variant	-	NC_000002.12:g.63404389T>C	ESP,ExAC,TOPMed,gnomAD
RCV000402624	p.Glu365Gly	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63404389T>C	ClinVar
RCV000851200	p.Glu365Gly	missense variant	Joubert syndrome (JBTS)	NC_000002.12:g.63404389T>C	ClinVar
rs1006999848	p.Glu365Lys	missense variant	-	NC_000002.12:g.63404390C>T	TOPMed,gnomAD
rs748655540	p.His367Leu	missense variant	-	NC_000002.12:g.63404383T>A	ExAC,gnomAD
rs904401906	p.His367Gln	missense variant	-	NC_000002.12:g.63404382G>T	gnomAD
RCV000638345	p.Arg368Cys	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63404381G>A	ClinVar
RCV000501700	p.Arg368Cys	missense variant	-	NC_000002.12:g.63404381G>A	ClinVar
rs769112221	p.Arg368Cys	missense variant	-	NC_000002.12:g.63404381G>A	ExAC,TOPMed,gnomAD
rs769112221	p.Arg368Ser	missense variant	-	NC_000002.12:g.63404381G>T	ExAC,TOPMed,gnomAD
rs749677469	p.Arg368His	missense variant	-	NC_000002.12:g.63404380C>T	ExAC,TOPMed,gnomAD
rs997670883	p.Arg369Ser	missense variant	-	NC_000002.12:g.63404376T>G	TOPMed
rs1201601063	p.Val370Leu	missense variant	-	NC_000002.12:g.63404375C>G	gnomAD
rs1311761712	p.Val370Ala	missense variant	-	NC_000002.12:g.63404374A>G	TOPMed
rs1458939612	p.Thr371Ile	missense variant	-	NC_000002.12:g.63404371G>A	TOPMed,gnomAD
rs780340046	p.Leu372His	missense variant	-	NC_000002.12:g.63404368A>T	ExAC,gnomAD
rs755766939	p.Leu373Phe	missense variant	-	NC_000002.12:g.63404364T>A	ExAC,TOPMed,gnomAD
rs1244838887	p.Ala374Val	missense variant	-	NC_000002.12:g.63404362G>A	gnomAD
rs1423057040	p.Thr376Ile	missense variant	-	NC_000002.12:g.63404356G>A	gnomAD
rs1462024913	p.Thr376Ser	missense variant	-	NC_000002.12:g.63404357T>A	gnomAD
NCI-TCGA novel	p.Glu377Lys	missense variant	-	NC_000002.12:g.63404354C>T	NCI-TCGA
COSM6092171	p.Ser381Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63404341G>A	NCI-TCGA Cosmic
rs932586698	p.Leu382Ile	missense variant	-	NC_000002.12:g.63404339A>T	TOPMed,gnomAD
rs745528880	p.Ile383Leu	missense variant	-	NC_000002.12:g.63404336T>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser384Asn	missense variant	-	NC_000002.12:g.63404332C>T	NCI-TCGA
rs1168767079	p.Ser384Arg	missense variant	-	NC_000002.12:g.63404331G>C	TOPMed,gnomAD
rs1402913621	p.Pro387Ser	missense variant	-	NC_000002.12:g.63404324G>A	gnomAD
rs1476483565	p.Pro387Gln	missense variant	-	NC_000002.12:g.63404323G>T	gnomAD
rs780625068	p.Ser388Asn	missense variant	-	NC_000002.12:g.63404320C>T	ExAC,TOPMed,gnomAD
COSM6158709	p.Ala390Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63404315C>A	NCI-TCGA Cosmic
rs756765091	p.Ala390Val	missense variant	-	NC_000002.12:g.63404314G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ile391Val	missense variant	-	NC_000002.12:g.63404312T>C	NCI-TCGA
rs758359220	p.Val394Gly	missense variant	-	NC_000002.12:g.63404302A>C	ExAC,TOPMed,gnomAD
COSM722096	p.Val394Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63404303C>A	NCI-TCGA Cosmic
rs758359220	p.Val394Ala	missense variant	-	NC_000002.12:g.63404302A>G	ExAC,TOPMed,gnomAD
rs936904170	p.Ser396Arg	missense variant	-	NC_000002.12:g.63404297T>G	TOPMed
rs769985636	p.Ser396Ile	missense variant	-	NC_000002.12:g.63404296C>A	ExAC,gnomAD
rs1422251882	p.Gly399Arg	missense variant	-	NC_000002.12:g.63404288C>T	TOPMed
rs1040913823	p.Leu401Val	missense variant	-	NC_000002.12:g.63404282A>C	TOPMed
rs1441739882	p.Gln402His	missense variant	-	NC_000002.12:g.63404277T>A	gnomAD
COSM1022196	p.Ile403Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63404275A>C	NCI-TCGA Cosmic
rs1157041765	p.Asp405Val	missense variant	-	NC_000002.12:g.63404269T>A	TOPMed
rs939729364	p.Met406Val	missense variant	-	NC_000002.12:g.63404267T>C	gnomAD
rs760868650	p.Leu408Val	missense variant	-	NC_000002.12:g.63404261G>C	ExAC,gnomAD
rs1045070465	p.Leu408Pro	missense variant	-	NC_000002.12:g.63404260A>G	TOPMed
rs767534837	p.Ser409Tyr	missense variant	-	NC_000002.12:g.63404257G>T	ExAC,gnomAD
rs761984635	p.Ile411Val	missense variant	-	NC_000002.12:g.63404252T>C	ExAC,gnomAD
rs761984635	p.Ile411Leu	missense variant	-	NC_000002.12:g.63404252T>G	ExAC,gnomAD
rs1468517777	p.Asp419Gly	missense variant	-	NC_000002.12:g.63404227T>C	gnomAD
rs749726622	p.Arg420His	missense variant	-	NC_000002.12:g.63404224C>T	ExAC,TOPMed,gnomAD
rs769165669	p.Arg420Cys	missense variant	-	NC_000002.12:g.63404225G>A	ExAC,TOPMed,gnomAD
RCV000537132	p.Leu421Phe	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63404220T>G	ClinVar
rs189817127	p.Leu421Phe	missense variant	-	NC_000002.12:g.63404220T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770130590	p.Pro422His	missense variant	-	NC_000002.12:g.63404218G>T	ExAC,TOPMed,gnomAD
rs770130590	p.Pro422Leu	missense variant	-	NC_000002.12:g.63404218G>A	ExAC,TOPMed,gnomAD
rs745555236	p.Arg423Gly	missense variant	-	NC_000002.12:g.63404216T>C	ExAC,TOPMed,gnomAD
rs374062508	p.Glu424Ter	stop gained	-	NC_000002.12:g.63404213C>A	ESP,ExAC,gnomAD
rs917989756	p.Thr425Ile	missense variant	-	NC_000002.12:g.63404209G>A	TOPMed
COSM477560	p.Leu426Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63404206A>T	NCI-TCGA Cosmic
rs756815232	p.Ser429Gly	missense variant	-	NC_000002.12:g.63404198T>C	ExAC,gnomAD
rs1381115647	p.Lys430Gln	missense variant	-	NC_000002.12:g.63404195T>G	gnomAD
rs746549040	p.Leu431Val	missense variant	-	NC_000002.12:g.63404192A>C	ExAC,gnomAD
rs537697456	p.Leu431Ter	stop gained	-	NC_000002.12:g.63404191A>T	1000Genomes,ExAC,gnomAD
rs758480274	p.Phe432Ser	missense variant	-	NC_000002.12:g.63404188A>G	ExAC,gnomAD
rs1266211459	p.Asp433Tyr	missense variant	-	NC_000002.12:g.63404186C>A	gnomAD
rs1255748699	p.Ala434Gly	missense variant	-	NC_000002.12:g.63404182G>C	TOPMed
rs1354054730	p.Ser436Arg	missense variant	-	NC_000002.12:g.63404175G>T	gnomAD
rs1218126119	p.Ser436Asn	missense variant	-	NC_000002.12:g.63404176C>T	gnomAD
RCV000344015	p.Ser437Ile	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63404173C>A	ClinVar
rs367727948	p.Ser437Ile	missense variant	-	NC_000002.12:g.63404173C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs199676595	p.Val439Ile	missense variant	-	NC_000002.12:g.63404168C>T	ESP,ExAC,TOPMed,gnomAD
RCV000168404	p.Val439Ile	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63404168C>T	ClinVar
rs886056224	p.Met441Thr	missense variant	-	NC_000002.12:g.63404161A>G	-
RCV000291456	p.Met441Thr	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63404161A>G	ClinVar
rs373940251	p.Ile444Arg	missense variant	-	NC_000002.12:g.63404152A>C	TOPMed,gnomAD
rs61734466	p.Ala445Pro	missense variant	-	NC_000002.12:g.63404150C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs61734466	p.Ala445Ser	missense variant	-	NC_000002.12:g.63404150C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000383591	p.Ala445Pro	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63404150C>G	ClinVar
rs751645563	p.Pro446Ser	missense variant	-	NC_000002.12:g.63404147G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln447His	missense variant	-	NC_000002.12:g.63404142C>A	NCI-TCGA
COSM6158710	p.Lys452Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63404127C>G	NCI-TCGA Cosmic
RCV000499631	p.Gly453Ser	missense variant	-	NC_000002.12:g.63404126C>T	ClinVar
rs1553378249	p.Gly453Ser	missense variant	-	NC_000002.12:g.63404126C>T	-
rs763507671	p.Glu454Ter	stop gained	-	NC_000002.12:g.63404123C>A	ExAC,gnomAD
rs775953831	p.Gly455Asp	missense variant	-	NC_000002.12:g.63404119C>T	ExAC,gnomAD
rs770094615	p.Ser456Gly	missense variant	-	NC_000002.12:g.63404117T>C	ExAC,gnomAD
rs1399108904	p.Ser456Asn	missense variant	-	NC_000002.12:g.63404116C>T	gnomAD
NCI-TCGA novel	p.Ile458Thr	missense variant	-	NC_000002.12:g.63404110A>G	NCI-TCGA
COSM722099	p.Ile458Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63404109G>C	NCI-TCGA Cosmic
rs759973492	p.Tyr459Cys	missense variant	-	NC_000002.12:g.63404107T>C	ExAC,gnomAD
rs367834809	p.Asp460Val	missense variant	-	NC_000002.12:g.63404104T>A	ESP,ExAC,gnomAD
rs1427106654	p.Leu462Phe	missense variant	-	NC_000002.12:g.63404099G>A	gnomAD
rs1419572074	p.Leu464Val	missense variant	-	NC_000002.12:g.63404093G>C	TOPMed
rs1195284455	p.Leu464His	missense variant	-	NC_000002.12:g.63404092A>T	gnomAD
rs777486236	p.Arg465Thr	missense variant	-	NC_000002.12:g.63404089C>G	ExAC,gnomAD
NCI-TCGA novel	p.Arg465Met	missense variant	-	NC_000002.12:g.63404089C>A	NCI-TCGA
rs746640000	p.Arg465Gly	missense variant	-	NC_000002.12:g.63404090T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe466Leu	missense variant	-	NC_000002.12:g.63404085A>T	NCI-TCGA
NCI-TCGA novel	p.Arg468Lys	missense variant	-	NC_000002.12:g.63404080C>T	NCI-TCGA
COSM722100	p.Arg468Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63404081T>C	NCI-TCGA Cosmic
rs1375712939	p.Gly469Val	missense variant	-	NC_000002.12:g.63404077C>A	TOPMed
rs374807784	p.Val473Met	missense variant	-	NC_000002.12:g.63404066C>T	ESP,ExAC,TOPMed,gnomAD
rs753681723	p.Phe476Leu	missense variant	-	NC_000002.12:g.63404057A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly479Asp	missense variant	-	NC_000002.12:g.63382094C>T	NCI-TCGA
rs1245545358	p.Gly479Ala	missense variant	-	NC_000002.12:g.63382094C>G	gnomAD
rs779649886	p.Gly479Arg	missense variant	-	NC_000002.12:g.63404048C>G	ExAC,gnomAD
RCV000765694	p.Val480Ile	missense variant	Orstavik Lindemann Solberg syndrome (CHDTHP)	NC_000002.12:g.63382092C>T	ClinVar
RCV000638348	p.Val480Ile	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63382092C>T	ClinVar
rs201412509	p.Val480Ile	missense variant	-	NC_000002.12:g.63382092C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201412509	p.Val480Phe	missense variant	-	NC_000002.12:g.63382092C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1391760964	p.Phe481Val	missense variant	-	NC_000002.12:g.63382089A>C	gnomAD
rs768036084	p.Arg483Ter	stop gained	-	NC_000002.12:g.63382083G>A	ExAC,TOPMed,gnomAD
rs544657165	p.Arg483Gln	missense variant	-	NC_000002.12:g.63382082C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000624967	p.Arg483Gln	missense variant	Bardet-Biedl syndrome 1 (BBS1)	NC_000002.12:g.63382082C>T	ClinVar
rs750245323	p.Gly484Glu	missense variant	-	NC_000002.12:g.63382079C>T	ExAC,TOPMed,gnomAD
rs1381164557	p.Gln485Glu	missense variant	-	NC_000002.12:g.63382077G>C	TOPMed
rs769679304	p.Gly487Ala	missense variant	-	NC_000002.12:g.63382070C>G	ExAC,TOPMed,gnomAD
rs1422417437	p.Leu488Val	missense variant	-	NC_000002.12:g.63382068G>C	gnomAD
COSM722101	p.Leu488Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63382067A>G	NCI-TCGA Cosmic
rs370842356	p.Ile489Thr	missense variant	-	NC_000002.12:g.63382064A>G	ESP,TOPMed
rs1160883774	p.Ile491Val	missense variant	-	NC_000002.12:g.63382059T>C	gnomAD
rs368313345	p.Phe493Leu	missense variant	-	NC_000002.12:g.63382051G>C	ESP,ExAC
rs577571642	p.His497Gln	missense variant	-	NC_000002.12:g.63382039G>C	1000Genomes,TOPMed,gnomAD
rs758621800	p.Cys498Gly	missense variant	-	NC_000002.12:g.63382038A>C	ExAC,gnomAD
NCI-TCGA novel	p.Ile501TyrPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.63382029_63382030insGAGTTTTGTATATA	NCI-TCGA
rs559295906	p.Tyr502Ser	missense variant	-	NC_000002.12:g.63382025T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs559295906	p.Tyr502Cys	missense variant	-	NC_000002.12:g.63382025T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala504Ser	missense variant	-	NC_000002.12:g.63382020C>A	NCI-TCGA
rs1489723769	p.Ala504Thr	missense variant	-	NC_000002.12:g.63382020C>T	gnomAD
rs1462636982	p.Ala504Val	missense variant	-	NC_000002.12:g.63382019G>A	TOPMed
rs1042418470	p.Ile505Val	missense variant	-	NC_000002.12:g.63382017T>C	TOPMed
rs754985173	p.Ile507Val	missense variant	-	NC_000002.12:g.63382011T>C	ExAC,gnomAD
rs754985173	p.Ile507Phe	missense variant	-	NC_000002.12:g.63382011T>A	ExAC,gnomAD
rs574567870	p.Ser509Gly	missense variant	-	NC_000002.12:g.63382005T>C	TOPMed
rs1417068972	p.Ser510Arg	missense variant	-	NC_000002.12:g.63382000G>T	TOPMed
rs753917889	p.Trp513Ter	stop gained	-	NC_000002.12:g.63381991C>T	ExAC,gnomAD
rs1239965172	p.Asp514Asn	missense variant	-	NC_000002.12:g.63381990C>T	gnomAD
rs766821661	p.Leu516Val	missense variant	-	NC_000002.12:g.63381984G>C	ExAC,gnomAD
NCI-TCGA novel	p.Phe521Tyr	missense variant	-	NC_000002.12:g.63381968A>T	NCI-TCGA
rs750822710	p.Ile522Asn	missense variant	-	NC_000002.12:g.63381965A>T	ExAC,gnomAD
rs1402538022	p.Ser525Asn	missense variant	-	NC_000002.12:g.63381956C>T	gnomAD
rs534102944	p.Ala526Thr	missense variant	-	NC_000002.12:g.63381954C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs773852077	p.Ile527Thr	missense variant	-	NC_000002.12:g.63381950A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asn529Thr	missense variant	-	NC_000002.12:g.63381944T>G	NCI-TCGA
rs1450898477	p.His530Arg	missense variant	-	NC_000002.12:g.63381941T>C	TOPMed
rs1157344279	p.Leu531Ile	missense variant	-	NC_000002.12:g.63381939G>T	gnomAD
NCI-TCGA novel	p.Gln534Arg	missense variant	-	NC_000002.12:g.63381929T>C	NCI-TCGA
rs987143451	p.Gln534Lys	missense variant	-	NC_000002.12:g.63381930G>T	gnomAD
rs955196377	p.Leu536Val	missense variant	-	NC_000002.12:g.63381924G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Glu541Lys	missense variant	-	NC_000002.12:g.63381909C>T	NCI-TCGA
rs775015955	p.Glu541Gln	missense variant	-	NC_000002.12:g.63381909C>G	ExAC,gnomAD
rs769732237	p.Ala542Ser	missense variant	-	NC_000002.12:g.63381906C>A	ExAC,gnomAD
rs1201712340	p.Leu544His	missense variant	-	NC_000002.12:g.63378503A>T	gnomAD
rs752149936	p.Glu545Asp	missense variant	-	NC_000002.12:g.63378499C>G	ExAC
rs764719249	p.Ser547Asn	missense variant	-	NC_000002.12:g.63378494C>T	ExAC,gnomAD
rs764719249	p.Ser547Thr	missense variant	-	NC_000002.12:g.63378494C>G	ExAC,gnomAD
rs567533706	p.Thr550Asn	missense variant	-	NC_000002.12:g.63378485G>T	1000Genomes,ExAC,gnomAD
rs1333720503	p.Phe551Ser	missense variant	-	NC_000002.12:g.63378482A>G	gnomAD
rs992864301	p.Phe551Val	missense variant	-	NC_000002.12:g.63378483A>C	TOPMed
rs372500548	p.Tyr552Cys	missense variant	-	NC_000002.12:g.63378479T>C	ESP,ExAC,TOPMed,gnomAD
rs1234580147	p.Ala553Ser	missense variant	-	NC_000002.12:g.63378477C>A	TOPMed
NCI-TCGA novel	p.Pro554Thr	missense variant	-	NC_000002.12:g.63378474G>T	NCI-TCGA
rs1336432510	p.Thr555Lys	missense variant	-	NC_000002.12:g.63378470G>T	gnomAD
rs760413825	p.Pro557Leu	missense variant	-	NC_000002.12:g.63378464G>A	ExAC,gnomAD
COSM722103	p.Ser561Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63378452G>A	NCI-TCGA Cosmic
rs1168632851	p.Ile563Val	missense variant	-	NC_000002.12:g.63378447T>C	TOPMed,gnomAD
rs768769733	p.Glu565Lys	missense variant	-	NC_000002.12:g.63378441C>T	ExAC
rs1371340322	p.Arg567Gly	missense variant	-	NC_000002.12:g.63378435T>C	gnomAD
RCV000322028	p.Gln569Leu	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63378428T>A	ClinVar
rs1026359002	p.Gln569Glu	missense variant	-	NC_000002.12:g.63378429G>C	TOPMed
rs780342443	p.Gln569Arg	missense variant	-	NC_000002.12:g.63378428T>C	ExAC,TOPMed,gnomAD
rs780342443	p.Gln569Leu	missense variant	-	NC_000002.12:g.63378428T>A	ExAC,TOPMed,gnomAD
rs1458647975	p.Lys572Thr	missense variant	-	NC_000002.12:g.63378419T>G	TOPMed
rs1445410385	p.Tyr573His	missense variant	-	NC_000002.12:g.63378417A>G	gnomAD
rs746415470	p.Arg575Thr	missense variant	-	NC_000002.12:g.63378410C>G	ExAC,gnomAD
RCV000195475	p.Phe577Val	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63378405A>C	ClinVar
rs141845729	p.Phe577Val	missense variant	-	NC_000002.12:g.63378405A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1439554090	p.Phe577Cys	missense variant	-	NC_000002.12:g.63378404A>C	TOPMed,gnomAD
rs141845729	p.Phe577Leu	missense variant	-	NC_000002.12:g.63378405A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778132438	p.Phe577Leu	missense variant	-	NC_000002.12:g.63378403G>T	ExAC,TOPMed,gnomAD
rs1336889689	p.His579Tyr	missense variant	-	NC_000002.12:g.63378399G>A	gnomAD
NCI-TCGA novel	p.His580Tyr	missense variant	-	NC_000002.12:g.63378396G>A	NCI-TCGA
NCI-TCGA novel	p.His580Arg	missense variant	-	NC_000002.12:g.63378395T>C	NCI-TCGA
rs377588151	p.Leu582Val	missense variant	-	NC_000002.12:g.63378390G>C	ESP,TOPMed
rs994455388	p.Arg583Ser	missense variant	-	NC_000002.12:g.63313311C>G	TOPMed
rs1345982636	p.Gln585His	missense variant	-	NC_000002.12:g.63313305C>G	gnomAD
NCI-TCGA novel	p.Lys589Arg	missense variant	-	NC_000002.12:g.63313294T>C	NCI-TCGA
rs1398725626	p.Ala590Thr	missense variant	-	NC_000002.12:g.63313292C>T	gnomAD
NCI-TCGA novel	p.Ala594Val	missense variant	-	NC_000002.12:g.63313279G>A	NCI-TCGA
rs761696659	p.Val595Asp	missense variant	-	NC_000002.12:g.63313276A>T	ExAC,TOPMed,gnomAD
rs774236081	p.Asp596Tyr	missense variant	-	NC_000002.12:g.63313274C>A	ExAC,gnomAD
rs185980830	p.Asp596Glu	missense variant	-	NC_000002.12:g.63313272G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774236081	p.Asp596His	missense variant	-	NC_000002.12:g.63313274C>G	ExAC,gnomAD
rs776917693	p.Val597Ile	missense variant	-	NC_000002.12:g.63313271C>T	NCI-TCGA
rs776917693	p.Val597Ile	missense variant	-	NC_000002.12:g.63313271C>T	ExAC,TOPMed,gnomAD
rs771029060	p.Gly598Asp	missense variant	-	NC_000002.12:g.63313267C>T	ExAC,TOPMed,gnomAD
rs1265346351	p.Ala599Val	missense variant	-	NC_000002.12:g.63313264G>A	gnomAD
rs747517141	p.Arg600Cys	missense variant	-	NC_000002.12:g.63313262G>A	ExAC,TOPMed,gnomAD
rs375036014	p.Arg600His	missense variant	-	NC_000002.12:g.63313261C>T	NCI-TCGA,NCI-TCGA Cosmic
rs375036014	p.Arg600Pro	missense variant	-	NC_000002.12:g.63313261C>G	ESP,ExAC,TOPMed,gnomAD
rs375036014	p.Arg600His	missense variant	-	NC_000002.12:g.63313261C>T	ESP,ExAC,TOPMed,gnomAD
rs1389225319	p.Met604Val	missense variant	-	NC_000002.12:g.63313250T>C	TOPMed
rs1473946923	p.Ile606Met	missense variant	-	NC_000002.12:g.63259404A>C	TOPMed,gnomAD
rs1316983206	p.Tyr608Ter	stop gained	-	NC_000002.12:g.63259398G>C	TOPMed
rs1240792153	p.Leu609Ile	missense variant	-	NC_000002.12:g.63259397G>T	TOPMed
rs1299815762	p.Leu611Val	missense variant	-	NC_000002.12:g.63259391G>C	gnomAD
rs370410017	p.Asp612Glu	missense variant	-	NC_000002.12:g.63259386A>T	ESP,ExAC,TOPMed,gnomAD
rs1282386975	p.Gly614Ser	missense variant	-	NC_000002.12:g.63259382C>T	TOPMed
rs748983772	p.Glu615Lys	missense variant	-	NC_000002.12:g.63259379C>T	ExAC,gnomAD
COSM722104	p.Leu616Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63259374C>A	NCI-TCGA Cosmic
rs779790542	p.Leu616Met	missense variant	-	NC_000002.12:g.63259376A>T	ExAC,gnomAD
rs780498393	p.Ala617Val	missense variant	-	NC_000002.12:g.63259372G>A	ExAC,TOPMed,gnomAD
rs765912876	p.Ala617Thr	missense variant	-	NC_000002.12:g.63259373C>T	ExAC,gnomAD
COSM4822307	p.Glu620Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63259364C>T	NCI-TCGA Cosmic
rs1188297055	p.Glu620Asp	missense variant	-	NC_000002.12:g.63259362T>G	gnomAD
rs757326675	p.Val621Met	missense variant	-	NC_000002.12:g.63259361C>T	ExAC,gnomAD
rs751528511	p.Arg623Ile	missense variant	-	NC_000002.12:g.63259354C>A	ExAC,gnomAD
rs377380543	p.Arg623Ser	missense variant	-	NC_000002.12:g.63259353T>G	ESP,ExAC,gnomAD
rs758234804	p.Ala626Ser	missense variant	-	NC_000002.12:g.63259346C>A	ExAC,gnomAD
rs576368237	p.Ser627Ile	missense variant	-	NC_000002.12:g.63259342C>A	1000Genomes,ExAC,gnomAD
rs766639248	p.Ile629Thr	missense variant	-	NC_000002.12:g.63259336A>G	ExAC,TOPMed,gnomAD
rs1176534509	p.Ile629Val	missense variant	-	NC_000002.12:g.63259337T>C	TOPMed
rs760742250	p.Asp630Asn	missense variant	-	NC_000002.12:g.63259334C>T	ExAC,TOPMed,gnomAD
rs1245429510	p.Ser633Leu	missense variant	-	NC_000002.12:g.63259324G>A	TOPMed,gnomAD
rs1319733963	p.Ile634Val	missense variant	-	NC_000002.12:g.63259322T>C	gnomAD
NCI-TCGA novel	p.Thr635Ile	missense variant	-	NC_000002.12:g.63259318G>A	NCI-TCGA
rs1224322780	p.Gly637Arg	missense variant	-	NC_000002.12:g.63259313C>T	gnomAD
rs767576008	p.Val638Phe	missense variant	-	NC_000002.12:g.63259310C>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu640Pro	missense variant	-	NC_000002.12:g.63174829A>G	NCI-TCGA
COSM4830774	p.Leu640Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63174830G>A	NCI-TCGA Cosmic
rs1216093830	p.Pro643Leu	missense variant	-	NC_000002.12:g.63174820G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asp645Asn	missense variant	-	NC_000002.12:g.63174815C>T	NCI-TCGA
rs1324158673	p.Asp648Tyr	missense variant	-	NC_000002.12:g.63174806C>A	gnomAD
RCV000354381	p.Met649Val	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63174803T>C	ClinVar
rs759281211	p.Met649Val	missense variant	-	NC_000002.12:g.63174803T>C	ExAC,gnomAD
rs373413042	p.Asn651His	missense variant	-	NC_000002.12:g.63174797T>G	ESP,TOPMed
rs770665661	p.Ala653Gly	missense variant	-	NC_000002.12:g.63174790G>C	ExAC,gnomAD
rs770665661	p.Ala653Val	missense variant	-	NC_000002.12:g.63174790G>A	ExAC,gnomAD
rs1325954155	p.Ile655Thr	missense variant	-	NC_000002.12:g.63174784A>G	TOPMed
rs772783589	p.Leu657Pro	missense variant	-	NC_000002.12:g.63174778A>G	ExAC,gnomAD
rs772204815	p.Ser658Pro	missense variant	-	NC_000002.12:g.63174776A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu659Ter	stop gained	-	NC_000002.12:g.63174772A>C	NCI-TCGA
rs748023736	p.Leu659Phe	missense variant	-	NC_000002.12:g.63174771T>A	ExAC,gnomAD
rs369075461	p.Pro661Ser	missense variant	-	NC_000002.12:g.63174767G>A	ESP,ExAC,TOPMed,gnomAD
rs369075461	p.Pro661Thr	missense variant	-	NC_000002.12:g.63174767G>T	ESP,ExAC,TOPMed,gnomAD
rs572858289	p.Pro661Leu	missense variant	-	NC_000002.12:g.63174766G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM3372839	p.Gly663Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63174760C>G	NCI-TCGA Cosmic
rs1464624316	p.Gly663Glu	missense variant	-	NC_000002.12:g.63174760C>T	gnomAD
NCI-TCGA novel	p.Glu664Ter	stop gained	-	NC_000002.12:g.63174758C>A	NCI-TCGA
rs1374797094	p.Glu664Val	missense variant	-	NC_000002.12:g.63174757T>A	TOPMed,gnomAD
rs1171436215	p.Asp665His	missense variant	-	NC_000002.12:g.63174755C>G	gnomAD
rs554538342	p.Ser666Pro	missense variant	-	NC_000002.12:g.63174752A>G	1000Genomes,ExAC,gnomAD
rs781418589	p.Phe667Leu	missense variant	-	NC_000002.12:g.63174747A>C	ExAC,TOPMed,gnomAD
COSM259813	p.Pro668Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63174746G>A	NCI-TCGA Cosmic
rs757409957	p.Pro668Leu	missense variant	-	NC_000002.12:g.63174745G>A	ExAC,gnomAD
rs1242470451	p.Asn670Lys	missense variant	-	NC_000002.12:g.63174738G>T	TOPMed,gnomAD
rs1198594705	p.Pro672Arg	missense variant	-	NC_000002.12:g.63174733G>C	gnomAD
NCI-TCGA novel	p.Ser674Thr	missense variant	-	NC_000002.12:g.63174728A>T	NCI-TCGA
rs1340896410	p.Pro676Thr	missense variant	-	NC_000002.12:g.63174722G>T	gnomAD
rs758998604	p.Thr677Ile	missense variant	-	NC_000002.12:g.63174718G>A	ExAC,gnomAD
rs1339594727	p.His678Tyr	missense variant	-	NC_000002.12:g.63174716G>A	gnomAD
NCI-TCGA novel	p.Arg679Lys	missense variant	-	NC_000002.12:g.63174712C>T	NCI-TCGA
rs1295952465	p.His680Arg	missense variant	-	NC_000002.12:g.63174709T>C	gnomAD
rs1383919839	p.Ile681Thr	missense variant	-	NC_000002.12:g.63174706A>G	gnomAD
rs759847898	p.Gln683Pro	missense variant	-	NC_000002.12:g.63174700T>G	ExAC,TOPMed,gnomAD
rs759847898	p.Gln683Arg	missense variant	-	NC_000002.12:g.63174700T>C	ExAC,TOPMed,gnomAD
rs765674630	p.Gln683Lys	missense variant	-	NC_000002.12:g.63174701G>T	ExAC,gnomAD
rs1325947677	p.Gln684Arg	missense variant	-	NC_000002.12:g.63174697T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Arg685Lys	missense variant	-	NC_000002.12:g.63174694C>T	NCI-TCGA
NCI-TCGA novel	p.Leu687Val	missense variant	-	NC_000002.12:g.63174689G>C	NCI-TCGA
COSM1022195	p.Leu687Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63174688A>G	NCI-TCGA Cosmic
rs1283720653	p.Leu687Met	missense variant	-	NC_000002.12:g.63174689G>T	TOPMed
rs61734468	p.Asn688Ser	missense variant	-	NC_000002.12:g.63174685T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000709653	p.Asn688Ser	missense variant	Bardet-Biedl syndrome 1 (BBS1)	NC_000002.12:g.63174685T>C	ClinVar
rs1298798705	p.Gly689Ser	missense variant	-	NC_000002.12:g.63174683C>T	gnomAD
rs766136478	p.Ser690Pro	missense variant	-	NC_000002.12:g.63174680A>G	ExAC,TOPMed,gnomAD
rs760401387	p.Asn692Ser	missense variant	-	NC_000002.12:g.63174673T>C	ExAC,TOPMed,gnomAD
rs766838916	p.Ile695Thr	missense variant	-	NC_000002.12:g.63153569A>G	ExAC,gnomAD
rs376547832	p.Asp697Val	missense variant	-	NC_000002.12:g.63153563T>A	ESP,ExAC,TOPMed,gnomAD
COSM6092172	p.Arg699Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63153556C>G	NCI-TCGA Cosmic
rs767162327	p.Leu702Val	missense variant	-	NC_000002.12:g.63153549G>C	ExAC,gnomAD
rs1211600492	p.Glu703Gln	missense variant	-	NC_000002.12:g.63153546C>G	TOPMed
RCV000318207	p.Asp705Tyr	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63153540C>A	ClinVar
rs200378703	p.Asp705Tyr	missense variant	-	NC_000002.12:g.63153540C>A	ESP,ExAC,TOPMed,gnomAD
rs200378703	p.Asp705His	missense variant	-	NC_000002.12:g.63153540C>G	ESP,ExAC,TOPMed,gnomAD
rs866413691	p.Cys707Tyr	missense variant	-	NC_000002.12:g.63153533C>T	TOPMed
rs866413691	p.Cys707Ser	missense variant	-	NC_000002.12:g.63153533C>G	TOPMed
VAR_064772	p.Ser708Phe	Missense	-	-	UniProt
rs1228276176	p.Gly709Arg	missense variant	-	NC_000002.12:g.63153528C>T	gnomAD
rs762871297	p.Met712Leu	missense variant	-	NC_000002.12:g.63153519T>A	ExAC,TOPMed,gnomAD
rs775318255	p.Met712Thr	missense variant	-	NC_000002.12:g.63153518A>G	ExAC,TOPMed,gnomAD
rs762871297	p.Met712Val	missense variant	-	NC_000002.12:g.63153519T>C	ExAC,TOPMed,gnomAD
rs747270731	p.Thr715Ser	missense variant	-	NC_000002.12:g.63153510T>A	ExAC,gnomAD
rs772286167	p.Cys716Tyr	missense variant	-	NC_000002.12:g.63153506C>T	ExAC,TOPMed,gnomAD
rs553530881	p.Cys716Arg	missense variant	-	NC_000002.12:g.63153507A>G	1000Genomes,ExAC,gnomAD
rs748189167	p.Asn717His	missense variant	-	NC_000002.12:g.63153504T>G	ExAC,gnomAD
rs1205538920	p.Asp720Asn	missense variant	-	NC_000002.12:g.63153495C>T	gnomAD
rs563554007	p.Gly721Arg	missense variant	-	NC_000002.12:g.63152943C>T	ExAC,TOPMed,gnomAD
rs780732970	p.Gly721Glu	missense variant	-	NC_000002.12:g.63152942C>T	ExAC,gnomAD
rs1276531591	p.Arg724Lys	missense variant	-	NC_000002.12:g.63152933C>T	TOPMed,gnomAD
rs1276531591	p.Arg724Thr	missense variant	-	NC_000002.12:g.63152933C>G	TOPMed,gnomAD
rs1370629959	p.Glu725Lys	missense variant	-	NC_000002.12:g.63152931C>T	gnomAD
rs367690400	p.Asp726Glu	missense variant	-	NC_000002.12:g.63152926G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly727Cys	missense variant	-	NC_000002.12:g.63152925C>A	NCI-TCGA
RCV000312220	p.Gly727Ser	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63152925C>T	ClinVar
COSM1022194	p.Gly727Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63152924C>A	NCI-TCGA Cosmic
COSM3582544	p.Gly727Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63152924C>T	NCI-TCGA Cosmic
rs369786224	p.Gly727Ser	missense variant	-	NC_000002.12:g.63152925C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1433104332	p.Gln730Ter	stop gained	-	NC_000002.12:g.63152916G>A	TOPMed
NCI-TCGA novel	p.Glu731Lys	missense variant	-	NC_000002.12:g.63122056C>T	NCI-TCGA
rs1313129799	p.Ile732Val	missense variant	-	NC_000002.12:g.63122053T>C	gnomAD
COSM6158711	p.Arg733Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63122049C>A	NCI-TCGA Cosmic
rs749394904	p.Arg733Lys	missense variant	-	NC_000002.12:g.63122049C>T	ExAC,gnomAD
rs1376880485	p.Asp734Glu	missense variant	-	NC_000002.12:g.63122045A>T	gnomAD
rs1235741235	p.Asp734Val	missense variant	-	NC_000002.12:g.63122046T>A	TOPMed
rs1396195860	p.Gly735Ala	missense variant	-	NC_000002.12:g.63122043C>G	gnomAD
rs775648946	p.Gly736Arg	missense variant	-	NC_000002.12:g.63122041C>G	ExAC,gnomAD
rs1409916303	p.Gly736Asp	missense variant	-	NC_000002.12:g.63122040C>T	gnomAD
rs746369214	p.Ser737Phe	missense variant	-	NC_000002.12:g.63122037G>A	ExAC,TOPMed,gnomAD
rs746369214	p.Ser737Tyr	missense variant	-	NC_000002.12:g.63122037G>T	ExAC,TOPMed,gnomAD
rs374727283	p.Lys739Arg	missense variant	-	NC_000002.12:g.63122031T>C	ESP,ExAC,gnomAD
NCI-TCGA novel	p.His742Asn	missense variant	-	NC_000002.12:g.63122023G>T	NCI-TCGA
NCI-TCGA novel	p.Phe743Val	missense variant	-	NC_000002.12:g.63122020A>C	NCI-TCGA
NCI-TCGA novel	p.Gly744Ser	missense variant	-	NC_000002.12:g.63122017C>T	NCI-TCGA
NCI-TCGA novel	p.Leu745Met	missense variant	-	NC_000002.12:g.63122014G>T	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0003492	Aortic coarctation	disease	HPO
C0009714	Hepatic Fibrosis, Congenital	disease	HPO
C0010417	Cryptorchidism	disease	HPO
C0013274	Patent ductus arteriosus	disease	HPO
C0014065	Congenital cerebral hernia	disease	HPO
C0020534	Orbital separation excessive	phenotype	HPO
C0020538	Hypertensive disease	group	HPO
C0020619	Hypogonadism	disease	HPO
C0025362	Mental Retardation	disease	HPO
C0025990	Micrognathism	disease	HPO
C0026010	Microphthalmos	disease	HPO
C0028738	Nystagmus	disease	HPO
C0028754	Obesity	disease	HPO
C0029124	Optic Atrophy	disease	HPO
C0035334	Retinitis Pigmentosa	disease	HPO
C0079924	Oligohydramnios	phenotype	HPO
C0086543	Cataract	disease	HPO
C0152427	Polydactyly	disease	GENOMICS_ENGLAND
C0205682	Waist-Hip Ratio	phenotype	GWASDB
C0265215	Meckel-Gruber syndrome	disease	ORPHANET
C0266435	Congenital hypoplasia of penis	disease	HPO
C0266544	Microcornea	disease	HPO
C0340375	Subaortic stenosis	disease	HPO
C0347509	Benign neoplasm of central nervous system	group	HPO
C0349588	Short stature	phenotype	HPO
C0423903	Low intelligence	phenotype	HPO
C0424688	Small head	phenotype	HPO
C0431362	Lobar Holoprosencephaly	disease	HPO
C0431565	Hamartoma of tongue	phenotype	HPO
C0431904	Ulnar polydactyly of fingers	disease	HPO
C0432055	Simple syndactyly of fingers - first web	disease	HPO
C0476397	Electroretinogram abnormal	phenotype	HPO
C0497247	Increase in blood pressure	phenotype	HPO
C0685840	Congenital hypoplasia of ovary	disease	HPO
C0752166	Bardet-Biedl Syndrome	disease	BEFREE;ORPHANET
C0917816	Mental deficiency	disease	HPO
C1167713	Decreased corneal diameter	phenotype	HPO
C1301937	Talipes	disease	HPO
C1389018	Atrioventricular Septal Defect	disease	HPO
C1510497	Lens Opacities	phenotype	HPO
C1691228	Cystic Kidney Diseases	group	GENOMICS_ENGLAND
C1835452	Hypoplastic ovary	phenotype	HPO
C1842876	Depressed nasal ridge	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1853235	Sclerocornea	disease	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1857486	Low-set, posteriorly rotated ears	phenotype	HPO
C1857587	Orstavik Lindemann Solberg syndrome	disease	CLINVAR;CTD_human;UNIPROT
C1857679	Sloping forehead	phenotype	HPO
C1866231	Full cheeks	phenotype	HPO
C1867131	Broad hallux	phenotype	HPO
C2112129	Postaxial foot polydactyly	disease	HPO
C2748653	Chubby cheeks	phenotype	HPO
C2931046	Heart defect, tongue hamartoma and polysyndactyly	disease	ORPHANET
C2981150	Uranostaphyloschisis	disease	HPO
C3150127	BARDET-BIEDL SYNDROME 15	disease	CLINVAR;CTD_human
C3550658	Maternal oligohydramnios	phenotype	HPO
C3552713	Talipes foot deformities	phenotype	HPO
C3714581	Multicystic Dysplastic Kidney	disease	HPO
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND;HPO
C3806443	Puffy cheeks	phenotype	HPO
C4020865	Fibular polydactyly	disease	HPO
C4020876	Dull intelligence	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4024748	Aplasia/Hypoplasia of the iris	phenotype	HPO
C4025844	Chorioretinal abnormality	phenotype	HPO
C4277690	Ciliopathies	group	GENOMICS_ENGLAND
C4280625	Decreased size of eyeball	phenotype	HPO
C4280647	Hypertrophy of cheeks	phenotype	HPO
C4280648	Hyperplasia of cheeks	phenotype	HPO
C4280808	Abnormally small eyeball	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001822	kidney development	IEA
GO:0002093	auditory receptor cell morphogenesis	IEA
GO:0007224	smoothened signaling pathway	IEA
GO:0010762	regulation of fibroblast migration	IEA
GO:0016476	regulation of embryonic cell shape	ISS
GO:0032185	septin cytoskeleton organization	ISS
GO:0032880	regulation of protein localization	ISS
GO:0042733	embryonic digit morphogenesis	IEA
GO:0043010	camera-type eye development	IEA
GO:0045184	establishment of protein localization	IBA
GO:0051893	regulation of focal adhesion assembly	IEA
GO:0055123	digestive system development	IEA
GO:0060021	roof of mouth development	IEA
GO:0060271	cilium assembly	ISS
GO:0060541	respiratory system development	IEA
GO:0072358	cardiovascular system development	IEA
GO:0090521	glomerular visceral epithelial cell migration	IEA
GO:1900027	regulation of ruffle assembly	IEA
GO:2000114	regulation of establishment of cell polarity	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005930	axoneme	ISS
GO:0097541	axonemal basal plate	IEA
GO:0005886	plasma membrane	ISS
GO:0005938	cell cortex	ISS
GO:0016324	apical plasma membrane	ISS

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of WDPCP mRNA	27188386
C496492	abrine	abrine results in increased expression of WDPCP mRNA	31054353
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of WDPCP mRNA	21641981; 27153756;
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of WDPCP mRNA	21632981
C006780	bisphenol A	bisphenol A results in decreased methylation of WDPCP intron	30906313
C006780	bisphenol A	bisphenol A results in increased methylation of WDPCP intron	30906313
C006780	bisphenol A	[bisphenol A co-treated with Estradiol] results in decreased expression of WDPCP mRNA	26496021
C006780	bisphenol A	bisphenol A results in decreased expression of WDPCP mRNA	25181051
C000611646	bisphenol F	bisphenol F results in increased expression of WDPCP mRNA	30951980
C018475	butyraldehyde	butyraldehyde results in decreased expression of WDPCP mRNA	26079696
D002737	Chloroprene	Chloroprene results in increased expression of WDPCP mRNA	23125180
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of WDPCP mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of WDPCP mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of WDPCP mRNA	22023808
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of WDPCP mRNA	27188386
D013759	Dronabinol	Dronabinol results in increased expression of WDPCP mRNA	16616335
D004958	Estradiol	[bisphenol A co-treated with Estradiol] results in decreased expression of WDPCP mRNA	26496021
D017313	Fenretinide	Fenretinide results in decreased expression of WDPCP mRNA	28973697
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of WDPCP mRNA	27392435
D058185	Magnetite Nanoparticles	[Succimer binds to Magnetite Nanoparticles] which results in decreased expression of WDPCP mRNA	21641980
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of WDPCP mRNA	26011545
C583365	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide results in increased expression of WDPCP mRNA	29244179
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of WDPCP mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of WDPCP mRNA	25554681; 25620056;
D004113	Succimer	[Succimer binds to Magnetite Nanoparticles] which results in decreased expression of WDPCP mRNA	21641980
D000077210	Sunitinib	Sunitinib results in increased expression of WDPCP mRNA	31533062
C009495	titanium dioxide	titanium dioxide results in decreased expression of WDPCP mRNA	23557971
D014520	Urethane	Urethane results in increased expression of WDPCP mRNA	28818685
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of WDPCP mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of WDPCP mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased methylation of WDPCP gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of WDPCP mRNA	23179753; 26272509;
C025643	vinclozolin	vinclozolin results in decreased expression of WDPCP mRNA	22615374

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0083	Bardet-Biedl syndrome
KW-1003	Cell membrane
KW-0966	Cell projection
KW-1186	Ciliopathy
KW-0969	Cilium
KW-0970	Cilium biogenesis/degradation
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0225	Disease mutation
KW-0472	Membrane
KW-0991	Mental retardation
KW-0550	Obesity
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0853	WD repeat

Interpro

InterPro ID	InterPro Term
IPR024511	Frtz
IPR015943	WD40/YVTN_repeat-like_dom_sf
IPR036322	WD40_repeat_dom_sf

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF11768	Frtz

Gene: WDPCP

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction