CleftGeneDB-Search

Gene: DZIP1L

Basic information

Tag	Content
Uniprot ID	Q8IYY4; C9JUG5; Q96M38;
Entrez ID	199221
Genbank protein ID	BAB71474.1; AAH33308.1;
Genbank nucleotide ID	NM_173543.2; NM_001170538.1;
Ensembl protein ID	ENSP00000332148; ENSP00000419486;
Ensembl nucleotide ID	ENSG00000158163
Gene name	Zinc finger protein DZIP1L
Gene symbol	DZIP1L
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Involved in primary cilium formation (PubMed:19852954, PubMed:28530676). Probably acts as a transition zone protein required for localization of PKD1/PC1 and PKD2/PC2 to the ciliary membrane (PubMed:28530676).
Sequence	MQSPAATAEG LSGPLFGAYT FPTFKFQPRH DSMDWRRIST LDVDRVAREL DVATLQENIA 60 GITFCNLDRE VCSRCGQPVD PALLKVLRLA QLIIEYLLHC QDCLSASVAQ LEARLQTSLG 120 QQQRGQQELG RQADELKGVR EESRRRRKMI STLQQLLMQT GTHSYHTCHL CDKTFMNATF 180 LRGHIQRRHA GVAEGGKQKK QEQPVEEVLE ELRAKLKWTQ GELEAQREAE RQRQLQEAEL 240 IHQREIEAKK EFDKWKEQEW TKLYGEIDKL KKLFWDEFKN VAKQNSTLEE KLRALQSHSV 300 MESKLGSLRD EESEEWLRQA RELQALREKT EIQKTEWKRK VKELHEEHMA EKKELQEENQ 360 RLQASLSQDQ KKAAAQSQCQ ISTLRAQLQE QARIIASQEE MIQSLSLRKV EGIHKVPKAV 420 DTEEDSPEEE MEDSQDEQHK VLAALRRNPT LLKHFRPILE DTLEEKLESM GIRKDAKGIS 480 IQTLRHLESL LRVQREQKAR KFSEFLSLRG KLVKEVTSRA KERQENGAVV SQPDGQPSVK 540 SQQSTLVTRE AQPKTRTLQV ALPSTPAEPP PPTRQSHGSH GSSLTQVSAP APRPGLHGPS 600 STPPSSGPGM STPPFSSEED SEGDRVQRVS LQPPKVPSRM VPRPKDDWDW SDTETSEENA 660 QPPGQGSGTL VQSMVKNLEK QLEAPAKKPA GGVSLFFMPN AGPQRAATPG RKPQLSEDES 720 DLEISSLEDL PLDLDQREKP KPLSRSKLPE KFGTGPQSSG QPRVPAW 767

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

Protein disorder visualization from D2P2 is currently unavailable.

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	DZIP1L		A0A452ERJ9		Capra hircus	Prediction	More>>
1:1 ortholog	DZIP1L	199221	Q8IYY4		Homo sapiens	Prediction	More>>
1:1 ortholog	Dzip1l	72507	Q499E4	CPO,CLP	Mus musculus	Publication	More>>
1:1 ortholog	DZIP1L		A0A2I3RUU2		Pan troglodytes	Prediction	More>>
1:1 ortholog	DZIP1L		A0A287B413		Sus scrofa	Prediction	More>>
1:1 ortholog	DZIP1L	100352428	G1SKV1		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Dzip1l	315952	Q5XIA0		Rattus norvegicus	Prediction	More>>
1:1 ortholog	dzip1l		X1WEH0		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs746721389	p.Gln2His	missense variant	-	NC_000003.12:g.138103966C>G	ExAC,TOPMed,gnomAD
rs768328003	p.Gln2Ter	stop gained	-	NC_000003.12:g.138103968G>A	ExAC,TOPMed,gnomAD
rs746721389	p.Gln2His	missense variant	-	NC_000003.12:g.138103966C>A	ExAC,TOPMed,gnomAD
rs771502185	p.Ser3Phe	missense variant	-	NC_000003.12:g.138103964G>A	ExAC,gnomAD
rs771502185	p.Ser3Tyr	missense variant	-	NC_000003.12:g.138103964G>T	ExAC,gnomAD
rs745393759	p.Ala5Thr	missense variant	-	NC_000003.12:g.138103959C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala6Thr	missense variant	-	NC_000003.12:g.138103956C>T	NCI-TCGA
rs146109164	p.Ser12Arg	missense variant	-	NC_000003.12:g.138103938T>G	ESP,ExAC,TOPMed,gnomAD
rs146109164	p.Ser12Gly	missense variant	-	NC_000003.12:g.138103938T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser12Asn	missense variant	-	NC_000003.12:g.138103937C>T	NCI-TCGA
rs375457172	p.Gly13Val	missense variant	-	NC_000003.12:g.138103934C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375457172	p.Gly13Asp	missense variant	-	NC_000003.12:g.138103934C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly13Ser	missense variant	-	NC_000003.12:g.138103935C>T	NCI-TCGA
COSM3587932	p.Pro14Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138103931G>A	NCI-TCGA Cosmic
COSM1419415	p.Gly17Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138103922C>T	NCI-TCGA Cosmic
rs1166092949	p.Ala18Val	missense variant	-	NC_000003.12:g.138103919G>A	gnomAD
rs766725279	p.Tyr19Cys	missense variant	-	NC_000003.12:g.138103916T>C	ExAC,TOPMed,gnomAD
rs751768041	p.Tyr19His	missense variant	-	NC_000003.12:g.138103917A>G	ExAC,gnomAD
rs200970340	p.Thr20Met	missense variant	-	NC_000003.12:g.138103913G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375898856	p.Pro22Leu	missense variant	-	NC_000003.12:g.138103907G>A	ESP,ExAC,TOPMed,gnomAD
rs776470429	p.Thr23Ala	missense variant	-	NC_000003.12:g.138103905T>C	ExAC,gnomAD
rs544148897	p.Lys25Arg	missense variant	-	NC_000003.12:g.138103898T>C	1000Genomes,ExAC,gnomAD
rs1323244987	p.Lys25Ter	stop gained	-	NC_000003.12:g.138103899T>A	TOPMed,gnomAD
COSM4113919	p.Lys25Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138103898T>G	NCI-TCGA Cosmic
rs987675067	p.Arg29Cys	missense variant	-	NC_000003.12:g.138103887G>A	gnomAD
rs775064400	p.Arg29His	missense variant	-	NC_000003.12:g.138103886C>T	ExAC,gnomAD
rs745353973	p.His30Leu	missense variant	-	NC_000003.12:g.138103883T>A	ExAC,TOPMed,gnomAD
rs771733113	p.His30Tyr	missense variant	-	NC_000003.12:g.138103884G>A	ExAC,gnomAD
rs745353973	p.His30Arg	missense variant	-	NC_000003.12:g.138103883T>C	ExAC,TOPMed,gnomAD
rs748671549	p.Ser32Asn	missense variant	-	NC_000003.12:g.138103877C>T	ExAC,gnomAD
rs778338143	p.Ser32Gly	missense variant	-	NC_000003.12:g.138103878T>C	ExAC,gnomAD
rs748671549	p.Ser32Thr	missense variant	-	NC_000003.12:g.138103877C>G	ExAC,gnomAD
rs371320965	p.Met33Ile	missense variant	-	NC_000003.12:g.138103873C>T	ESP,ExAC,gnomAD
rs1489553276	p.Asp34Val	missense variant	-	NC_000003.12:g.138103871T>A	TOPMed
rs755341125	p.Arg36Ser	missense variant	-	NC_000003.12:g.138103864T>G	ExAC,gnomAD
rs758730826	p.Arg37Leu	missense variant	-	NC_000003.12:g.138103862C>A	ExAC,TOPMed,gnomAD
rs139394665	p.Arg37Cys	missense variant	-	NC_000003.12:g.138103863G>A	ESP,ExAC,TOPMed,gnomAD
rs758730826	p.Arg37His	missense variant	-	NC_000003.12:g.138103862C>T	ExAC,TOPMed,gnomAD
rs1237460517	p.Ile38Val	missense variant	-	NC_000003.12:g.138103860T>C	gnomAD
COSM4113915	p.Ser39Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138103857T>G	NCI-TCGA Cosmic
rs149176280	p.Ser39Asn	missense variant	-	NC_000003.12:g.138103856C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753650054	p.Thr40Pro	missense variant	-	NC_000003.12:g.138103854T>G	ExAC
rs764030474	p.Asp42Gly	missense variant	-	NC_000003.12:g.138103847T>C	ExAC,TOPMed,gnomAD
rs958102181	p.Val43Ile	missense variant	-	NC_000003.12:g.138103845C>T	TOPMed
rs760410672	p.Asp44Asn	missense variant	-	NC_000003.12:g.138103842C>T	ExAC,gnomAD
rs188293055	p.Arg45Cys	missense variant	-	NC_000003.12:g.138103839G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759170608	p.Arg45His	missense variant	-	NC_000003.12:g.138103838C>T	ExAC,TOPMed,gnomAD
rs770284499	p.Val46Met	missense variant	-	NC_000003.12:g.138103836C>T	ExAC,TOPMed,gnomAD
rs1366114210	p.Ala47Ser	missense variant	-	NC_000003.12:g.138103833C>A	gnomAD
rs370424959	p.Arg48Gln	missense variant	-	NC_000003.12:g.138103829C>T	ESP,ExAC,TOPMed,gnomAD
rs374088265	p.Arg48Trp	missense variant	-	NC_000003.12:g.138103830G>A	ESP,ExAC,TOPMed,gnomAD
rs747343805	p.Leu50Pro	missense variant	-	NC_000003.12:g.138103823A>G	ExAC,gnomAD
rs780612273	p.Asp51Asn	missense variant	-	NC_000003.12:g.138103821C>T	ExAC,TOPMed,gnomAD
rs758629116	p.Val52Leu	missense variant	-	NC_000003.12:g.138103818C>A	ExAC,TOPMed,gnomAD
rs758629116	p.Val52Met	missense variant	-	NC_000003.12:g.138103818C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val52Ala	missense variant	-	NC_000003.12:g.138103817A>G	NCI-TCGA
rs1434833275	p.Ala53Thr	missense variant	-	NC_000003.12:g.138103815C>T	TOPMed,gnomAD
rs746139719	p.Ala53Val	missense variant	-	NC_000003.12:g.138103814G>A	ExAC,gnomAD
NCI-TCGA novel	p.Thr54Ile	missense variant	-	NC_000003.12:g.138103811G>A	NCI-TCGA
rs1243187610	p.Glu57Lys	missense variant	-	NC_000003.12:g.138103803C>T	TOPMed
rs552755792	p.Cys65Arg	missense variant	-	NC_000003.12:g.138103779A>G	1000Genomes,ExAC,gnomAD
rs753971499	p.Leu67Phe	missense variant	-	NC_000003.12:g.138103771C>G	ExAC,gnomAD
rs545888037	p.Arg69Trp	missense variant	-	NC_000003.12:g.138103767G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs182819610	p.Arg69Gln	missense variant	-	NC_000003.12:g.138103766C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1310942364	p.Glu70Val	missense variant	-	NC_000003.12:g.138103763T>A	TOPMed,gnomAD
rs1310942364	p.Glu70Ala	missense variant	-	NC_000003.12:g.138103763T>G	TOPMed,gnomAD
rs752478096	p.Val71Ala	missense variant	-	NC_000003.12:g.138103760A>G	ExAC,gnomAD
rs1301243905	p.Val71Leu	missense variant	-	NC_000003.12:g.138103761C>A	gnomAD
rs767367553	p.Ser73Arg	missense variant	-	NC_000003.12:g.138103753G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser73Cys	missense variant	-	NC_000003.12:g.138103755T>A	NCI-TCGA
rs147377503	p.Arg74Cys	missense variant	-	NC_000003.12:g.138103752G>A	ESP,ExAC,TOPMed,gnomAD
rs773821499	p.Arg74Leu	missense variant	-	NC_000003.12:g.138103751C>A	ExAC,TOPMed,gnomAD
rs773821499	p.Arg74His	missense variant	-	NC_000003.12:g.138103751C>T	ExAC,TOPMed,gnomAD
rs766082421	p.Gln77Glu	missense variant	-	NC_000003.12:g.138103743G>C	ExAC,gnomAD
rs762332715	p.Pro78Leu	missense variant	-	NC_000003.12:g.138103739G>A	ExAC,gnomAD
rs772886047	p.Val79Leu	missense variant	-	NC_000003.12:g.138103737C>A	ExAC,gnomAD
rs1478117553	p.Asp80Asn	missense variant	-	NC_000003.12:g.138103734C>T	gnomAD
rs1367790486	p.Asp80Glu	missense variant	-	NC_000003.12:g.138103732G>T	TOPMed
rs376878265	p.Pro81Ser	missense variant	-	NC_000003.12:g.138103731G>A	ESP,ExAC,gnomAD
rs747572718	p.Pro81Leu	missense variant	-	NC_000003.12:g.138103730G>A	ExAC,TOPMed,gnomAD
rs142726001	p.Val86Leu	missense variant	-	NC_000003.12:g.138103716C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199536207	p.Arg88Pro	missense variant	-	NC_000003.12:g.138103709C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs199536207	p.Arg88His	missense variant	-	NC_000003.12:g.138103709C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs199536207	p.Arg88Leu	missense variant	-	NC_000003.12:g.138103709C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs138845918	p.Arg88Cys	missense variant	-	NC_000003.12:g.138103710G>A	ESP,ExAC,TOPMed,gnomAD
rs1023316550	p.Leu89Pro	missense variant	-	NC_000003.12:g.138103706A>G	TOPMed
rs939727927	p.Ala90Pro	missense variant	-	NC_000003.12:g.138103704C>G	gnomAD
rs555349004	p.Ala90Val	missense variant	Polycystic kidney disease 5 (PKD5)	NC_000003.12:g.138103703G>A	UniProt,dbSNP
VAR_078962	p.Ala90Val	missense variant	Polycystic kidney disease 5 (PKD5)	NC_000003.12:g.138103703G>A	UniProt
rs555349004	p.Ala90Val	missense variant	-	NC_000003.12:g.138103703G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs939727927	p.Ala90Ser	missense variant	-	NC_000003.12:g.138103704C>A	gnomAD
RCV000496993	p.Ala90Val	missense variant	POLYCYSTIC KIDNEY DISEASE 5 (PKD5)	NC_000003.12:g.138103703G>A	ClinVar
rs1135402754	p.Gln91His	missense variant	-	NC_000003.12:g.138103699C>G	TOPMed
RCV000496986	p.Gln91His	missense variant	POLYCYSTIC KIDNEY DISEASE 5 (PKD5)	NC_000003.12:g.138103699C>G	ClinVar
rs1247715972	p.Leu92Phe	missense variant	-	NC_000003.12:g.138103698G>A	TOPMed
rs751404547	p.Ile93Val	missense variant	-	NC_000003.12:g.138103695T>C	ExAC,gnomAD
rs376940572	p.Ile94Thr	missense variant	-	NC_000003.12:g.138103691A>G	ESP,ExAC,TOPMed,gnomAD
rs1401530619	p.Glu95Ala	missense variant	-	NC_000003.12:g.138103688T>G	gnomAD
rs770184972	p.TyrLeuLeuHis96Ter	stop gained	-	NC_000003.12:g.138103677_138103684del	ExAC,gnomAD
rs749937461	p.Tyr96Ter	stop gained	-	NC_000003.12:g.138103684G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr96His	missense variant	-	NC_000003.12:g.138103686A>G	NCI-TCGA
rs1260271300	p.Asp102Asn	missense variant	-	NC_000003.12:g.138103668C>T	TOPMed
rs1353300256	p.Cys103Tyr	missense variant	-	NC_000003.12:g.138103664C>T	gnomAD
rs933536368	p.Cys103Ser	missense variant	-	NC_000003.12:g.138103665A>T	TOPMed
rs1257029602	p.Ser105Arg	missense variant	-	NC_000003.12:g.138103657A>C	TOPMed
COSM1419414	p.Ser105Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138103658C>T	NCI-TCGA Cosmic
rs1474987795	p.Ala106Ser	missense variant	-	NC_000003.12:g.138103656C>A	gnomAD
rs1368652401	p.Ala106Val	missense variant	-	NC_000003.12:g.138103655G>A	TOPMed,gnomAD
rs764902342	p.Val108Ile	missense variant	-	NC_000003.12:g.138103650C>T	ExAC,TOPMed,gnomAD
rs761409752	p.Val108Ala	missense variant	-	NC_000003.12:g.138103649A>G	ExAC,gnomAD
rs1198800081	p.Ala109Val	missense variant	-	NC_000003.12:g.138103646G>A	gnomAD
rs1254782937	p.Ala109Ser	missense variant	-	NC_000003.12:g.138103647C>A	TOPMed,gnomAD
rs776082101	p.Gln110Arg	missense variant	-	NC_000003.12:g.138103643T>C	ExAC,gnomAD
rs1459473323	p.Gln110Ter	stop gained	-	NC_000003.12:g.138103644G>A	gnomAD
rs1198378186	p.Glu112Ala	missense variant	-	NC_000003.12:g.138103637T>G	gnomAD
rs372489966	p.Arg114Trp	missense variant	-	NC_000003.12:g.138103632G>A	ESP,ExAC,TOPMed,gnomAD
rs774817564	p.Arg114Gln	missense variant	-	NC_000003.12:g.138103631C>T	ExAC,gnomAD
rs1340097450	p.Gln116Leu	missense variant	-	NC_000003.12:g.138103625T>A	gnomAD
rs1310071268	p.Thr117Asn	missense variant	-	NC_000003.12:g.138103622G>T	TOPMed,gnomAD
rs902380379	p.Ser118Arg	missense variant	-	NC_000003.12:g.138103618G>T	TOPMed,gnomAD
rs777975721	p.Gly120Asp	missense variant	-	NC_000003.12:g.138103613C>T	ExAC,gnomAD
COSM6096558	p.Gln121Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138103610T>A	NCI-TCGA Cosmic
rs1391121308	p.Gln122Ter	stop gained	-	NC_000003.12:g.138103608G>A	TOPMed,gnomAD
COSM4947096	p.Gln122His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138103606C>G	NCI-TCGA Cosmic
rs769807839	p.Gln123Arg	missense variant	-	NC_000003.12:g.138103604T>C	ExAC,TOPMed,gnomAD
rs566087317	p.Arg124His	missense variant	-	NC_000003.12:g.138103601C>T	1000Genomes,ExAC,gnomAD
rs145919527	p.Arg124Cys	missense variant	-	NC_000003.12:g.138103602G>A	ESP,ExAC,TOPMed,gnomAD
rs751292738	p.Gly125Ala	missense variant	-	NC_000003.12:g.138103598C>G	ExAC,gnomAD
rs1441047921	p.Gly125Ser	missense variant	-	NC_000003.12:g.138103599C>T	gnomAD
rs149119419	p.Glu128Gly	missense variant	-	NC_000003.12:g.138103589T>C	ESP,gnomAD
rs758115822	p.Arg131Cys	missense variant	-	NC_000003.12:g.138103581G>A	ExAC,TOPMed,gnomAD
rs758115822	p.Arg131Ser	missense variant	-	NC_000003.12:g.138103581G>T	ExAC,TOPMed,gnomAD
rs978089953	p.Arg131His	missense variant	-	NC_000003.12:g.138103580C>T	TOPMed,gnomAD
rs1463026820	p.Asp134Asn	missense variant	-	NC_000003.12:g.138103572C>T	TOPMed,gnomAD
rs764994133	p.Glu135Ter	stop gained	-	NC_000003.12:g.138103569C>A	ExAC,TOPMed,gnomAD
rs764994133	p.Glu135Lys	missense variant	-	NC_000003.12:g.138103569C>T	ExAC,TOPMed,gnomAD
rs761358256	p.Leu136Phe	missense variant	-	NC_000003.12:g.138103566G>A	ExAC,gnomAD
rs1260890288	p.Leu136Pro	missense variant	-	NC_000003.12:g.138103565A>G	TOPMed
rs753428542	p.Gly138Val	missense variant	-	NC_000003.12:g.138103559C>A	ExAC,TOPMed,gnomAD
rs1308651344	p.Gly138Arg	missense variant	-	NC_000003.12:g.138103560C>G	gnomAD
rs1421480915	p.Val139Leu	missense variant	-	NC_000003.12:g.138103557C>A	TOPMed
rs760149160	p.Arg140Gln	missense variant	-	NC_000003.12:g.138103553C>T	ExAC,TOPMed,gnomAD
rs138080927	p.Arg140Trp	missense variant	-	NC_000003.12:g.138103554G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM6163537	p.Glu141Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.138103551C>A	NCI-TCGA Cosmic
rs1384913876	p.Ser143Arg	missense variant	-	NC_000003.12:g.138103543G>C	gnomAD
rs774576837	p.Arg144Cys	missense variant	-	NC_000003.12:g.138103542G>A	ExAC,TOPMed,gnomAD
rs369948773	p.Arg144His	missense variant	-	NC_000003.12:g.138103541C>T	ExAC,TOPMed,gnomAD
rs763322076	p.Arg145Trp	missense variant	-	NC_000003.12:g.138103539G>A	ExAC,TOPMed,gnomAD
rs200273535	p.Arg145Gln	missense variant	-	NC_000003.12:g.138103538C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs150414131	p.Arg146Cys	missense variant	-	NC_000003.12:g.138103536G>A	1000Genomes,ESP,ExAC,gnomAD
rs140445822	p.Arg146Pro	missense variant	-	NC_000003.12:g.138103535C>G	ESP,ExAC,TOPMed,gnomAD
rs140445822	p.Arg146His	missense variant	-	NC_000003.12:g.138103535C>T	ESP,ExAC,TOPMed,gnomAD
rs150414131	p.Arg146Ser	missense variant	-	NC_000003.12:g.138103536G>T	1000Genomes,ESP,ExAC,gnomAD
rs781705384	p.Arg147Cys	missense variant	-	NC_000003.12:g.138103533G>A	TOPMed,gnomAD
rs768461359	p.Arg147His	missense variant	-	NC_000003.12:g.138103532C>T	ExAC,TOPMed,gnomAD
rs768461359	p.Arg147Leu	missense variant	-	NC_000003.12:g.138103532C>A	ExAC,TOPMed,gnomAD
rs781705384	p.Arg147Gly	missense variant	-	NC_000003.12:g.138103533G>C	TOPMed,gnomAD
rs867010914	p.Lys148Arg	missense variant	-	NC_000003.12:g.138103529T>C	TOPMed
rs1285469345	p.Met149Ile	missense variant	-	NC_000003.12:g.138103525C>A	TOPMed
rs779856512	p.Ser151Gly	missense variant	-	NC_000003.12:g.138103521T>C	ExAC,gnomAD
COSM1419413	p.Ser151Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138103520C>A	NCI-TCGA Cosmic
rs758206074	p.Ser151Arg	missense variant	-	NC_000003.12:g.138103519G>C	ExAC,gnomAD
rs151236364	p.Thr152Ile	missense variant	-	NC_000003.12:g.138103517G>A	ESP,ExAC,TOPMed,gnomAD
COSM4113906	p.Leu153Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138103515G>T	NCI-TCGA Cosmic
rs778668538	p.Gln154Pro	missense variant	-	NC_000003.12:g.138103511T>G	ExAC,gnomAD
rs1135402755	p.Gln155Ter	stop gained	-	NC_000003.12:g.138103509G>A	-
RCV000496990	p.Gln155Ter	nonsense	POLYCYSTIC KIDNEY DISEASE 5 (PKD5)	NC_000003.12:g.138103509G>A	ClinVar
NCI-TCGA novel	p.Gln155His	missense variant	-	NC_000003.12:g.138103507C>G	NCI-TCGA
VAR_078964	p.Gln155_Trp767del	inframe_deletion	Polycystic kidney disease 5 (PKD5) [MIM:617610]	-	UniProt
rs753264200	p.Gln159His	missense variant	-	NC_000003.12:g.138103495C>A	ExAC,TOPMed,gnomAD
rs763727600	p.Thr160Ala	missense variant	-	NC_000003.12:g.138103494T>C	ExAC,gnomAD
rs143704981	p.Gly161Val	missense variant	-	NC_000003.12:g.138103490C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs970984804	p.Ser164Arg	missense variant	-	NC_000003.12:g.138103480G>C	TOPMed
rs1455347020	p.Tyr165Phe	missense variant	-	NC_000003.12:g.138103478T>A	TOPMed
rs1414590841	p.His166Tyr	missense variant	-	NC_000003.12:g.138103476G>A	gnomAD
rs146612729	p.Thr167Met	missense variant	-	NC_000003.12:g.138103472G>A	ESP,ExAC,TOPMed,gnomAD
COSM4829842	p.Cys168Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138097846C>T	NCI-TCGA Cosmic
rs1305512591	p.His169Arg	missense variant	-	NC_000003.12:g.138097843T>C	gnomAD
rs775470651	p.Leu170Met	missense variant	-	NC_000003.12:g.138097841G>T	ExAC,TOPMed,gnomAD
rs758554169	p.Cys171Ter	stop gained	-	NC_000003.12:g.138097837_138097838insTC	ExAC,gnomAD
COSM1038977	p.Cys171Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138097837C>T	NCI-TCGA Cosmic
rs745858461	p.Asn177Lys	missense variant	-	NC_000003.12:g.138097818A>T	ExAC,gnomAD
rs144376816	p.Asn177Asp	missense variant	-	NC_000003.12:g.138097820T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774436206	p.Ala178Val	missense variant	-	NC_000003.12:g.138097816G>A	ExAC,TOPMed,gnomAD
rs749061978	p.Arg182Gln	missense variant	-	NC_000003.12:g.138097804C>T	ExAC,TOPMed,gnomAD
rs372740940	p.Arg182Trp	missense variant	-	NC_000003.12:g.138097805G>A	ESP,ExAC,TOPMed,gnomAD
rs1354250404	p.Gly183Ser	missense variant	-	NC_000003.12:g.138097802C>T	gnomAD
rs944659930	p.His184Tyr	missense variant	-	NC_000003.12:g.138097799G>A	gnomAD
rs758754793	p.Arg187Cys	missense variant	-	NC_000003.12:g.138097790G>A	ExAC,TOPMed,gnomAD
rs199620264	p.Arg187His	missense variant	-	NC_000003.12:g.138097789C>T	ExAC,TOPMed,gnomAD
rs199620264	p.Arg187Leu	missense variant	-	NC_000003.12:g.138097789C>A	ExAC,TOPMed,gnomAD
rs780742594	p.His189Pro	missense variant	-	NC_000003.12:g.138097783T>G	ExAC,gnomAD
rs780742594	p.His189Arg	missense variant	-	NC_000003.12:g.138097783T>C	ExAC,gnomAD
rs566510192	p.Ala190Val	missense variant	-	NC_000003.12:g.138097780G>A	ExAC,TOPMed,gnomAD
COSM6096562	p.Ala190Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138097781C>T	NCI-TCGA Cosmic
rs750859667	p.Gly191Asp	missense variant	-	NC_000003.12:g.138097777C>T	ExAC,gnomAD
rs867752811	p.Val192Met	missense variant	-	NC_000003.12:g.138097775C>T	TOPMed
rs1232028180	p.Ala193Thr	missense variant	-	NC_000003.12:g.138097772C>T	gnomAD
rs757589778	p.Ala193Glu	missense variant	-	NC_000003.12:g.138097771G>T	ExAC,TOPMed,gnomAD
rs1323121995	p.Glu194Gln	missense variant	-	NC_000003.12:g.138097769C>G	gnomAD
rs1289195549	p.Gly195Val	missense variant	-	NC_000003.12:g.138097765C>A	gnomAD
rs752910091	p.Lys197Glu	missense variant	-	NC_000003.12:g.138094981T>C	ExAC,gnomAD
rs767875440	p.Gln198Arg	missense variant	-	NC_000003.12:g.138094977T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln198His	missense variant	-	NC_000003.12:g.138094976C>A	NCI-TCGA
COSM1419412	p.Lys199Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138094973C>A	NCI-TCGA Cosmic
COSM280699	p.Lys200Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138094971T>A	NCI-TCGA Cosmic
COSM1419411	p.Gln201His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138094967C>A	NCI-TCGA Cosmic
rs199701141	p.Glu202Asp	missense variant	-	NC_000003.12:g.138094964T>G	ExAC,TOPMed,gnomAD
rs759650616	p.Glu202Gln	missense variant	-	NC_000003.12:g.138094966C>G	ExAC,TOPMed,gnomAD
rs1282885844	p.Gln203Glu	missense variant	-	NC_000003.12:g.138094963G>C	TOPMed
rs974019095	p.Val205Met	missense variant	-	NC_000003.12:g.138094957C>T	gnomAD
rs766320387	p.Glu206Lys	missense variant	-	NC_000003.12:g.138094954C>T	ExAC
rs546174985	p.Glu207Asp	missense variant	-	NC_000003.12:g.138094949C>G	ExAC,TOPMed,gnomAD
rs1245549337	p.Leu209Ser	missense variant	-	NC_000003.12:g.138094944A>G	TOPMed
rs1302588392	p.Glu211Asp	missense variant	-	NC_000003.12:g.138094937C>G	gnomAD
rs761606292	p.Arg213Gln	missense variant	-	NC_000003.12:g.138094932C>T	ExAC,gnomAD
rs557241499	p.Arg213Trp	missense variant	-	NC_000003.12:g.138094933G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys215Thr	missense variant	-	NC_000003.12:g.138094926T>G	NCI-TCGA
rs776212758	p.Leu216Pro	missense variant	-	NC_000003.12:g.138094923A>G	ExAC,gnomAD
rs367898976	p.Lys217Gln	missense variant	-	NC_000003.12:g.138094921T>G	ESP
COSM3992767	p.Trp218Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138094918A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Trp218Cys	missense variant	-	NC_000003.12:g.138094916C>G	NCI-TCGA
rs768326674	p.Gly221Glu	missense variant	-	NC_000003.12:g.138094908C>T	ExAC,TOPMed
rs1158287390	p.Leu223Val	missense variant	-	NC_000003.12:g.138094903G>C	TOPMed
rs746490212	p.Glu224Asp	missense variant	-	NC_000003.12:g.138094898T>A	ExAC,gnomAD
rs1342587844	p.Glu224Gln	missense variant	-	NC_000003.12:g.138094900C>G	gnomAD
rs775027762	p.Ala225Val	missense variant	-	NC_000003.12:g.138094896G>A	ExAC,gnomAD
rs1408720926	p.Glu228Gly	missense variant	-	NC_000003.12:g.138094887T>C	TOPMed
NCI-TCGA novel	p.Glu228GlyPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.138094889_138094890insT	NCI-TCGA
rs148594666	p.Ala229Val	missense variant	-	NC_000003.12:g.138094884G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1320187406	p.Glu230Lys	missense variant	-	NC_000003.12:g.138094882C>T	TOPMed
rs1461711737	p.Arg231Lys	missense variant	-	NC_000003.12:g.138094878C>T	gnomAD
rs748555938	p.Arg233Gln	missense variant	-	NC_000003.12:g.138094872C>T	ExAC,gnomAD
rs374326524	p.Arg233Trp	missense variant	-	NC_000003.12:g.138094873G>A	ESP,ExAC,TOPMed,gnomAD
rs781534394	p.Gln236Leu	missense variant	-	NC_000003.12:g.138094863T>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln236His	missense variant	-	NC_000003.12:g.138094862C>A	NCI-TCGA
rs148698535	p.Glu237Gly	missense variant	-	NC_000003.12:g.138092543T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755249459	p.Ile241Val	missense variant	-	NC_000003.12:g.138092532T>C	ExAC,gnomAD
rs1190741762	p.His242Arg	missense variant	-	NC_000003.12:g.138092528T>C	TOPMed
rs747165958	p.Gln243Ter	stop gained	-	NC_000003.12:g.138092526G>A	ExAC,gnomAD
COSM460907	p.Gln243His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138092524C>G	NCI-TCGA Cosmic
rs780341260	p.Gln243Arg	missense variant	-	NC_000003.12:g.138092525T>C	ExAC,gnomAD
rs1267493387	p.Glu245Ter	stop gained	-	NC_000003.12:g.138092520C>A	gnomAD
rs1212669363	p.Ile246Thr	missense variant	-	NC_000003.12:g.138092516A>G	gnomAD
rs758357681	p.Ile246Val	missense variant	-	NC_000003.12:g.138092517T>C	ExAC,TOPMed,gnomAD
COSM1038976	p.Glu247Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138092514C>T	NCI-TCGA Cosmic
rs1310101266	p.Lys249Glu	missense variant	-	NC_000003.12:g.138092508T>C	gnomAD
COSM1038975	p.Lys249Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138092506C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys250Ter	stop gained	-	NC_000003.12:g.138092505T>A	NCI-TCGA
rs1348337515	p.Glu251Ala	missense variant	-	NC_000003.12:g.138092501T>G	gnomAD
rs765052280	p.Phe252Leu	missense variant	-	NC_000003.12:g.138092497A>T	ExAC,gnomAD
COSM1038974	p.Trp255Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138092489C>A	NCI-TCGA Cosmic
rs1326594470	p.Lys256Thr	missense variant	-	NC_000003.12:g.138092486T>G	gnomAD
rs970197178	p.Lys256Gln	missense variant	-	NC_000003.12:g.138092487T>G	TOPMed,gnomAD
rs970197178	p.Lys256Glu	missense variant	-	NC_000003.12:g.138092487T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Glu257Gln	missense variant	-	NC_000003.12:g.138092484C>G	NCI-TCGA
rs757232364	p.Gln258Ter	stop gained	-	NC_000003.12:g.138092481G>A	ExAC,TOPMed,gnomAD
rs757232364	p.Gln258Glu	missense variant	-	NC_000003.12:g.138092481G>C	ExAC,TOPMed,gnomAD
rs1384004880	p.Trp260Arg	missense variant	-	NC_000003.12:g.138092475A>T	gnomAD
rs144125944	p.Trp260Ter	stop gained	-	NC_000003.12:g.138092473C>T	1000Genomes
rs753615520	p.Thr261Ile	missense variant	-	NC_000003.12:g.138092471G>A	ExAC,gnomAD
COSM1419410	p.Lys262Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138092468T>G	NCI-TCGA Cosmic
rs763942623	p.Leu263Phe	missense variant	-	NC_000003.12:g.138092466G>A	ExAC,gnomAD
rs760465903	p.Tyr264His	missense variant	-	NC_000003.12:g.138092463A>G	ExAC,gnomAD
rs774957162	p.Tyr264Ter	stop gained	-	NC_000003.12:g.138092461A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly265Val	missense variant	-	NC_000003.12:g.138092459C>A	NCI-TCGA
NCI-TCGA novel	p.Glu266GlyPheSerTerUnk	frameshift	-	NC_000003.12:g.138092456_138092457insC	NCI-TCGA
rs553559481	p.Ile267Arg	missense variant	-	NC_000003.12:g.138092453A>C	1000Genomes
rs1269945361	p.Asp268Glu	missense variant	-	NC_000003.12:g.138092449A>T	gnomAD
rs1452507980	p.Asp268Asn	missense variant	-	NC_000003.12:g.138092451C>T	gnomAD
rs758939814	p.Lys269Thr	missense variant	-	NC_000003.12:g.138092447T>G	ExAC,gnomAD
rs767229944	p.Lys269Glu	missense variant	-	NC_000003.12:g.138092448T>C	ExAC,TOPMed,gnomAD
rs1242480151	p.Leu270Gln	missense variant	-	NC_000003.12:g.138092444A>T	gnomAD
rs1286824084	p.Leu270Ile	missense variant	-	NC_000003.12:g.138092445G>T	gnomAD
NCI-TCGA novel	p.Lys271Asn	missense variant	-	NC_000003.12:g.138092440T>G	NCI-TCGA
COSM1670593	p.Lys272Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138092439T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys272AsnPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.138092437T>-	NCI-TCGA
NCI-TCGA novel	p.Leu273IlePheSerTerUnk	frameshift	-	NC_000003.12:g.138092436_138092437insT	NCI-TCGA
rs770414266	p.Trp275Arg	missense variant	-	NC_000003.12:g.138092430A>G	ExAC,TOPMed,gnomAD
rs770414266	p.Trp275Arg	missense variant	-	NC_000003.12:g.138092430A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp275Cys	missense variant	-	NC_000003.12:g.138092428C>A	NCI-TCGA
rs762478675	p.Asp276Glu	missense variant	-	NC_000003.12:g.138092425A>T	ExAC,gnomAD
rs777285749	p.Glu277Gly	missense variant	-	NC_000003.12:g.138092423T>C	ExAC,gnomAD
COSM4679949	p.Glu277Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.138092424C>A	NCI-TCGA Cosmic
rs1304734469	p.Phe278Leu	missense variant	-	NC_000003.12:g.138092421A>G	gnomAD
rs376322296	p.Phe278Tyr	missense variant	-	NC_000003.12:g.138092420A>T	ESP,ExAC,gnomAD
rs1364634256	p.Lys279Ter	stop gained	-	NC_000003.12:g.138092418T>A	gnomAD
COSM1038973	p.Lys279Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138092417T>G	NCI-TCGA Cosmic
rs199809396	p.Ala282Thr	missense variant	-	NC_000003.12:g.138092409C>T	ExAC,TOPMed,gnomAD
rs1382176010	p.Lys283Glu	missense variant	-	NC_000003.12:g.138092406T>C	gnomAD
rs1431821204	p.Gln284Arg	missense variant	-	NC_000003.12:g.138092402T>C	TOPMed,gnomAD
rs1431821204	p.Gln284Pro	missense variant	-	NC_000003.12:g.138092402T>G	TOPMed,gnomAD
rs1478652932	p.Gln284Ter	stop gained	-	NC_000003.12:g.138092403G>A	gnomAD
rs772375697	p.Ser286Cys	missense variant	-	NC_000003.12:g.138092396G>C	ExAC,gnomAD
rs779020552	p.Thr287Ile	missense variant	-	NC_000003.12:g.138092393G>A	ExAC,TOPMed,gnomAD
rs373057028	p.Thr287Ala	missense variant	-	NC_000003.12:g.138092394T>C	ESP,ExAC
rs370713283	p.Leu288Val	missense variant	-	NC_000003.12:g.138092391G>C	ESP,ExAC,TOPMed,gnomAD
rs1283666211	p.Glu290Gly	missense variant	-	NC_000003.12:g.138092384T>C	TOPMed,gnomAD
rs749401543	p.Lys291Glu	missense variant	-	NC_000003.12:g.138088507T>C	ExAC,TOPMed,gnomAD
rs201374783	p.Arg293Leu	missense variant	-	NC_000003.12:g.138088500C>A	ESP,ExAC,TOPMed,gnomAD
rs201374783	p.Arg293Pro	missense variant	-	NC_000003.12:g.138088500C>G	ESP,ExAC,TOPMed,gnomAD
rs201374783	p.Arg293Gln	missense variant	-	NC_000003.12:g.138088500C>T	ESP,ExAC,TOPMed,gnomAD
rs548204161	p.Arg293Trp	missense variant	-	NC_000003.12:g.138088501G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs751169623	p.Ala294Glu	missense variant	-	NC_000003.12:g.138088497G>T	ExAC,gnomAD
rs751169623	p.Ala294Val	missense variant	-	NC_000003.12:g.138088497G>A	ExAC,gnomAD
rs781110260	p.Ala294Thr	missense variant	-	NC_000003.12:g.138088498C>T	ExAC,TOPMed,gnomAD
rs762509054	p.Gln296Lys	missense variant	-	NC_000003.12:g.138088492G>T	ExAC,gnomAD
rs749990522	p.Gln296Arg	missense variant	-	NC_000003.12:g.138088491T>C	ExAC,TOPMed,gnomAD
rs559538065	p.Ser297Phe	missense variant	-	NC_000003.12:g.138088488G>A	1000Genomes,ExAC,gnomAD
rs202128493	p.Val300Ala	missense variant	-	NC_000003.12:g.138088479A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1163877519	p.Met301Val	missense variant	-	NC_000003.12:g.138088477T>C	gnomAD
rs775711836	p.Lys304Glu	missense variant	-	NC_000003.12:g.138088468T>C	ExAC,TOPMed,gnomAD
rs532765182	p.Lys304Arg	missense variant	-	NC_000003.12:g.138088467T>C	1000Genomes,ExAC,gnomAD
rs775711836	p.Lys304Gln	missense variant	-	NC_000003.12:g.138088468T>G	ExAC,TOPMed,gnomAD
COSM6163539	p.Gly306Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138088461C>A	NCI-TCGA Cosmic
rs1233241542	p.Leu308Pro	missense variant	-	NC_000003.12:g.138088455A>G	gnomAD
NCI-TCGA novel	p.Leu308Val	missense variant	-	NC_000003.12:g.138088456G>C	NCI-TCGA
rs1271901847	p.Arg309Gln	missense variant	-	NC_000003.12:g.138088452C>T	gnomAD
rs147343775	p.Arg309Ter	stop gained	-	NC_000003.12:g.138088453G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749348378	p.Glu311Lys	missense variant	-	NC_000003.12:g.138088447C>T	ExAC,gnomAD
rs777087460	p.Glu312Lys	missense variant	-	NC_000003.12:g.138088444C>T	gnomAD
rs1287681528	p.Ser313Thr	missense variant	-	NC_000003.12:g.138088441A>T	TOPMed
rs1300241940	p.Glu315Gln	missense variant	-	NC_000003.12:g.138088435C>G	TOPMed,gnomAD
rs769616525	p.Trp316Arg	missense variant	-	NC_000003.12:g.138088432A>G	ExAC,gnomAD
rs200437191	p.Arg318Gln	missense variant	-	NC_000003.12:g.138088425C>T	-
rs748053549	p.Arg318Trp	missense variant	-	NC_000003.12:g.138088426G>A	ExAC,TOPMed,gnomAD
rs1383386156	p.Arg321Gln	missense variant	-	NC_000003.12:g.138088416C>T	gnomAD
rs2724693	p.Arg321Trp	missense variant	-	NC_000003.12:g.138088417G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs561108246	p.Ala325Val	missense variant	-	NC_000003.12:g.138088404G>A	1000Genomes,ExAC,gnomAD
rs561108246	p.Ala325Gly	missense variant	-	NC_000003.12:g.138088404G>C	1000Genomes,ExAC,gnomAD
rs746836615	p.Ala325Ser	missense variant	-	NC_000003.12:g.138088405C>A	ExAC,TOPMed,gnomAD
rs746836615	p.Ala325Thr	missense variant	-	NC_000003.12:g.138088405C>T	ExAC,TOPMed,gnomAD
rs1000973603	p.Leu326Met	missense variant	-	NC_000003.12:g.138088402G>T	TOPMed
rs1261387368	p.Leu326Arg	missense variant	-	NC_000003.12:g.138088401A>C	gnomAD
rs1178695870	p.Glu328Lys	missense variant	-	NC_000003.12:g.138088396C>T	TOPMed,gnomAD
rs1178695870	p.Glu328Gln	missense variant	-	NC_000003.12:g.138088396C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Glu328Gly	missense variant	-	NC_000003.12:g.138088395T>C	NCI-TCGA
rs200774363	p.Lys329Glu	missense variant	-	NC_000003.12:g.138088393T>C	1000Genomes,ExAC,gnomAD
rs764866419	p.Lys329Arg	missense variant	-	NC_000003.12:g.138088392T>C	ExAC,TOPMed
rs756723997	p.Thr330Ile	missense variant	-	NC_000003.12:g.138088389G>A	ExAC,gnomAD
COSM1038970	p.Glu331Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.138088387C>A	NCI-TCGA Cosmic
COSM1038969	p.Glu331Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138088385T>G	NCI-TCGA Cosmic
COSM1484666	p.Gln333Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.138088381G>A	NCI-TCGA Cosmic
rs765412908	p.Thr335Met	missense variant	-	NC_000003.12:g.138087019G>A	ExAC,TOPMed,gnomAD
rs765412908	p.Thr335Arg	missense variant	-	NC_000003.12:g.138087019G>C	ExAC,TOPMed,gnomAD
rs1344583642	p.Trp337Ter	stop gained	-	NC_000003.12:g.138087013C>T	gnomAD
rs776620159	p.Trp337Arg	missense variant	-	NC_000003.12:g.138087014A>G	ExAC,gnomAD
COSM1038968	p.Arg339Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138087007C>A	NCI-TCGA Cosmic
rs760758898	p.Lys340Gln	missense variant	-	NC_000003.12:g.138087005T>G	ExAC,gnomAD
rs775571191	p.Val341Leu	missense variant	-	NC_000003.12:g.138087002C>G	ExAC,gnomAD
rs771933156	p.Glu343Gly	missense variant	-	NC_000003.12:g.138086995T>C	ExAC,gnomAD
rs1184320485	p.Leu344Pro	missense variant	-	NC_000003.12:g.138086992A>G	gnomAD
rs745678956	p.His345Arg	missense variant	-	NC_000003.12:g.138086989T>C	ExAC,gnomAD
rs1308958125	p.Glu347Gly	missense variant	-	NC_000003.12:g.138086983T>C	TOPMed
NCI-TCGA novel	p.Glu347Asp	missense variant	-	NC_000003.12:g.138086982C>A	NCI-TCGA
rs1475361281	p.His348Arg	missense variant	-	NC_000003.12:g.138086980T>C	gnomAD
rs778588093	p.Met349Val	missense variant	-	NC_000003.12:g.138086978T>C	ExAC,TOPMed,gnomAD
rs770538165	p.Met349Thr	missense variant	-	NC_000003.12:g.138086977A>G	ExAC,TOPMed,gnomAD
rs748818108	p.Met349Ile	missense variant	-	NC_000003.12:g.138086976C>G	ExAC,TOPMed,gnomAD
rs748818108	p.Met349Ile	missense variant	-	NC_000003.12:g.138086976C>A	ExAC,TOPMed,gnomAD
rs1262926010	p.Ala350Thr	missense variant	-	NC_000003.12:g.138086975C>T	TOPMed,gnomAD
COSM3427129	p.Lys352Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138086967C>A	NCI-TCGA Cosmic
rs1196212402	p.Lys353Thr	missense variant	-	NC_000003.12:g.138086965T>G	TOPMed
RCV000496995	p.Glu354Ter	frameshift	POLYCYSTIC KIDNEY DISEASE 5 (PKD5)	NC_000003.12:g.138086961_138086962CT[1]	ClinVar
rs746234376	p.Gln356Ter	stop gained	-	NC_000003.12:g.138084250G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln356Leu	missense variant	-	NC_000003.12:g.138084249T>A	NCI-TCGA
rs1248876854	p.Glu358Val	missense variant	-	NC_000003.12:g.138084243T>A	gnomAD
rs779215778	p.Glu358Ter	stop gained	-	NC_000003.12:g.138084244C>A	ExAC,TOPMed,gnomAD
rs148073431	p.Gln360Arg	missense variant	-	NC_000003.12:g.138084237T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753951375	p.Arg361Gly	missense variant	-	NC_000003.12:g.138084235T>C	ExAC,TOPMed,gnomAD
rs1461639260	p.Leu362Ile	missense variant	-	NC_000003.12:g.138084232G>T	gnomAD
rs764435975	p.Leu362Pro	missense variant	-	NC_000003.12:g.138084231A>G	ExAC,gnomAD
rs1357154073	p.Gln363His	missense variant	-	NC_000003.12:g.138084227C>G	gnomAD
rs1161112507	p.Ala364Pro	missense variant	-	NC_000003.12:g.138084226C>G	gnomAD
rs1161112507	p.Ala364Thr	missense variant	-	NC_000003.12:g.138084226C>T	gnomAD
rs1339780793	p.Leu366Val	missense variant	-	NC_000003.12:g.138084220G>C	TOPMed
rs1239713621	p.Ser367Thr	missense variant	-	NC_000003.12:g.138084217A>T	gnomAD
rs752865093	p.Asp369Asn	missense variant	-	NC_000003.12:g.138084211C>T	ExAC,TOPMed,gnomAD
rs746777390	p.Lys371Arg	missense variant	-	NC_000003.12:g.138084204T>C	TOPMed
NCI-TCGA novel	p.Lys371Asn	missense variant	-	NC_000003.12:g.138084203C>A	NCI-TCGA
rs1337126731	p.Lys372Glu	missense variant	-	NC_000003.12:g.138084202T>C	TOPMed
rs1463287313	p.Ala373Ser	missense variant	-	NC_000003.12:g.138084199C>A	gnomAD
rs767539998	p.Ser377Cys	missense variant	-	NC_000003.12:g.138084186G>C	ExAC,TOPMed
rs767539998	p.Ser377Phe	missense variant	-	NC_000003.12:g.138084186G>A	ExAC,TOPMed
rs759457544	p.Gln378Arg	missense variant	-	NC_000003.12:g.138084183T>C	ExAC,gnomAD
rs774348168	p.Cys379Tyr	missense variant	-	NC_000003.12:g.138084180C>T	ExAC,gnomAD
rs1373466150	p.Cys379Trp	missense variant	-	NC_000003.12:g.138084179G>C	gnomAD
rs766028830	p.Gln380Ter	stop gained	-	NC_000003.12:g.138084178G>A	ExAC,gnomAD
rs942553360	p.Ile381Val	missense variant	-	NC_000003.12:g.138084175T>C	TOPMed
rs909678216	p.Ser382Gly	missense variant	-	NC_000003.12:g.138084172T>C	TOPMed
rs1442522015	p.Thr383Ile	missense variant	-	NC_000003.12:g.138084168G>A	TOPMed
rs1159594137	p.Leu384Phe	missense variant	-	NC_000003.12:g.138084166G>A	TOPMed,gnomAD
rs1159594137	p.Leu384Ile	missense variant	-	NC_000003.12:g.138084166G>T	TOPMed,gnomAD
rs769472234	p.Arg385His	missense variant	-	NC_000003.12:g.138084162C>T	ExAC,TOPMed,gnomAD
rs143605646	p.Arg385Cys	missense variant	-	NC_000003.12:g.138084163G>A	ESP,ExAC,TOPMed,gnomAD
rs747630867	p.Gln387Ter	stop gained	-	NC_000003.12:g.138084157G>A	ExAC,gnomAD
rs776186022	p.Leu388Val	missense variant	-	NC_000003.12:g.138084154G>C	ExAC,gnomAD
rs1169696325	p.Gln389Lys	missense variant	-	NC_000003.12:g.138084151G>T	TOPMed
NCI-TCGA novel	p.Gln389Arg	missense variant	-	NC_000003.12:g.138084150T>C	NCI-TCGA
rs376750141	p.Ala392Thr	missense variant	-	NC_000003.12:g.138084142C>T	ESP,ExAC,TOPMed,gnomAD
rs746296826	p.Arg393Gly	missense variant	-	NC_000003.12:g.138084139T>C	ExAC,gnomAD
rs1285066638	p.Ile394Thr	missense variant	-	NC_000003.12:g.138084135A>G	gnomAD
rs1205577909	p.Ala396Ser	missense variant	-	NC_000003.12:g.138084130C>A	gnomAD
rs779489906	p.Ser397Phe	missense variant	-	NC_000003.12:g.138084126G>A	ExAC,TOPMed,gnomAD
rs1258727182	p.Glu399Lys	missense variant	-	NC_000003.12:g.138084121C>T	gnomAD
NCI-TCGA novel	p.Met401Leu	missense variant	-	NC_000003.12:g.138084115T>A	NCI-TCGA
rs200209176	p.Ile402Phe	missense variant	-	NC_000003.12:g.138081764T>A	ExAC,gnomAD
rs781585321	p.Leu405Phe	missense variant	-	NC_000003.12:g.138081753C>G	ExAC,gnomAD
rs1485766291	p.Leu407Phe	missense variant	-	NC_000003.12:g.138081749G>A	TOPMed
rs552833973	p.Lys409Asn	missense variant	-	NC_000003.12:g.138081741C>A	1000Genomes,ExAC,gnomAD
rs199856777	p.Ile413Asn	missense variant	-	NC_000003.12:g.138080617A>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile413Phe	missense variant	-	NC_000003.12:g.138080618T>A	NCI-TCGA
NCI-TCGA novel	p.Lys415Asn	missense variant	-	NC_000003.12:g.138080610C>A	NCI-TCGA
rs758417408	p.Val416Ala	missense variant	-	NC_000003.12:g.138080608A>G	ExAC,TOPMed,gnomAD
rs750306857	p.Pro417Ala	missense variant	-	NC_000003.12:g.138080606G>C	ExAC,gnomAD
COSM1419408	p.Lys418Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138080602T>A	NCI-TCGA Cosmic
rs1283228053	p.Ala419Thr	missense variant	-	NC_000003.12:g.138080600C>T	TOPMed
rs1235976048	p.Thr422Ile	missense variant	-	NC_000003.12:g.138080590G>A	TOPMed
rs1259172588	p.Asp425Asn	missense variant	-	NC_000003.12:g.138080582C>T	TOPMed
rs149313849	p.Ser426Phe	missense variant	-	NC_000003.12:g.138080578G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749023434	p.Asp433Tyr	missense variant	-	NC_000003.12:g.138077624C>A	ExAC,gnomAD
rs752344990	p.Ser434Tyr	missense variant	-	NC_000003.12:g.138077620G>T	ExAC,gnomAD
rs755874292	p.Ser434Thr	missense variant	-	NC_000003.12:g.138077621A>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser434Pro	missense variant	-	NC_000003.12:g.138077621A>G	NCI-TCGA
rs1265606149	p.Lys440Arg	missense variant	-	NC_000003.12:g.138077602T>C	TOPMed
rs1052822497	p.Val441Ala	missense variant	-	NC_000003.12:g.138077599A>G	TOPMed,gnomAD
rs1225579548	p.Ala444Ser	missense variant	-	NC_000003.12:g.138077591C>A	TOPMed,gnomAD
COSM2148886	p.Ala444Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138077591C>T	NCI-TCGA Cosmic
rs376723739	p.Arg447His	missense variant	-	NC_000003.12:g.138077581C>T	ESP,ExAC,TOPMed,gnomAD
rs376723739	p.Arg447Leu	missense variant	-	NC_000003.12:g.138077581C>A	ESP,ExAC,TOPMed,gnomAD
rs114974820	p.Arg447Gly	missense variant	-	NC_000003.12:g.138077582G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs114974820	p.Arg447Cys	missense variant	-	NC_000003.12:g.138077582G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs114974820	p.Arg447Ser	missense variant	-	NC_000003.12:g.138077582G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn448LeuPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.138077579_138077580insCTATTCATCAGCACATGGAACATTCTCCAAGATAG	NCI-TCGA
rs1344381809	p.Pro449Ala	missense variant	-	NC_000003.12:g.138077576G>C	TOPMed
rs760973222	p.Lys453Thr	missense variant	-	NC_000003.12:g.138077563T>G	ExAC,gnomAD
rs374077294	p.Arg456Ile	missense variant	-	NC_000003.12:g.138077554C>A	ESP,TOPMed,gnomAD
rs374077294	p.Arg456Thr	missense variant	-	NC_000003.12:g.138077554C>G	ESP,TOPMed,gnomAD
rs1322409351	p.Ile458Val	missense variant	-	NC_000003.12:g.138077549T>C	TOPMed,gnomAD
rs568852386	p.Thr462Ala	missense variant	-	NC_000003.12:g.138077537T>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Glu465Ter	stop gained	-	NC_000003.12:g.138077528C>A	NCI-TCGA
rs201547120	p.Lys466Gln	missense variant	-	NC_000003.12:g.138077525T>G	1000Genomes
rs770850434	p.Glu468Lys	missense variant	-	NC_000003.12:g.138077519C>T	ExAC,TOPMed
rs1281613123	p.Ser469Thr	missense variant	-	NC_000003.12:g.138077515C>G	TOPMed,gnomAD
rs1281613123	p.Ser469Asn	missense variant	-	NC_000003.12:g.138077515C>T	TOPMed,gnomAD
rs1284263339	p.Met470Leu	missense variant	-	NC_000003.12:g.138077513T>G	TOPMed
rs1174951508	p.Gly471Arg	missense variant	-	NC_000003.12:g.138077510C>T	gnomAD
rs755897541	p.Ile472Met	missense variant	-	NC_000003.12:g.138077505T>C	ExAC,gnomAD
rs777593285	p.Ile472Leu	missense variant	-	NC_000003.12:g.138077507T>A	ExAC,gnomAD
rs747931783	p.Lys474Ter	stop gained	-	NC_000003.12:g.138077501T>A	ExAC,gnomAD
NCI-TCGA novel	p.Lys474Asn	missense variant	-	NC_000003.12:g.138077499C>A	NCI-TCGA
rs1360295989	p.Gly478Arg	missense variant	-	NC_000003.12:g.138071826C>T	gnomAD
COSM1038967	p.Gly478Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138071825C>T	NCI-TCGA Cosmic
rs747959405	p.Ser480Leu	missense variant	-	NC_000003.12:g.138071819G>A	ExAC,gnomAD
rs202011537	p.Ile481Val	missense variant	-	NC_000003.12:g.138071817T>C	1000Genomes,ExAC,gnomAD
rs768572145	p.Gln482Leu	missense variant	-	NC_000003.12:g.138071813T>A	ExAC,TOPMed,gnomAD
rs747614039	p.Thr483Ile	missense variant	-	NC_000003.12:g.138071810G>A	gnomAD
rs1391601740	p.Leu484Pro	missense variant	-	NC_000003.12:g.138071807A>G	TOPMed,gnomAD
rs779878262	p.His486Tyr	missense variant	-	NC_000003.12:g.138071802G>A	ExAC,gnomAD
rs889086878	p.Leu487Met	missense variant	-	NC_000003.12:g.138071799G>T	TOPMed,gnomAD
rs1165449428	p.Glu488Lys	missense variant	-	NC_000003.12:g.138071796C>T	gnomAD
rs1183044204	p.Leu491Pro	missense variant	-	NC_000003.12:g.138071786A>G	gnomAD
rs556276730	p.Val493Asp	missense variant	-	NC_000003.12:g.138071780A>T	ExAC,gnomAD
rs753058491	p.Arg495Trp	missense variant	-	NC_000003.12:g.138071775G>A	ExAC,TOPMed,gnomAD
rs150466957	p.Arg495Gln	missense variant	-	NC_000003.12:g.138071774C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375872409	p.Gln497Glu	missense variant	-	NC_000003.12:g.138071769G>C	ESP,ExAC,TOPMed,gnomAD
rs140548803	p.Lys498Glu	missense variant	-	NC_000003.12:g.138071766T>C	ESP,ExAC,gnomAD
rs1264617486	p.Ala499Ser	missense variant	-	NC_000003.12:g.138071763C>A	gnomAD
rs566510085	p.Arg500Gln	missense variant	-	NC_000003.12:g.138071759C>T	ExAC,TOPMed,gnomAD
rs184030146	p.Arg500Trp	missense variant	-	NC_000003.12:g.138071760G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs761584698	p.Lys501Asn	missense variant	-	NC_000003.12:g.138071755C>G	ExAC,TOPMed,gnomAD
rs761584698	p.Lys501Asn	missense variant	-	NC_000003.12:g.138071755C>A	ExAC,TOPMed,gnomAD
rs548651176	p.Glu504Val	missense variant	-	NC_000003.12:g.138071747T>A	1000Genomes
rs768525363	p.Phe505Tyr	missense variant	-	NC_000003.12:g.138071744A>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg509Gly	missense variant	-	NC_000003.12:g.138071733T>C	NCI-TCGA
NCI-TCGA novel	p.Arg509Lys	missense variant	-	NC_000003.12:g.138071732C>T	NCI-TCGA
rs746836568	p.Lys511Met	missense variant	-	NC_000003.12:g.138071726T>A	ExAC,TOPMed,gnomAD
rs746836568	p.Lys511Thr	missense variant	-	NC_000003.12:g.138071726T>G	ExAC,TOPMed,gnomAD
rs529011516	p.Leu512Phe	missense variant	-	NC_000003.12:g.138071724G>A	1000Genomes,ExAC,gnomAD
rs529011516	p.Leu512Val	missense variant	-	NC_000003.12:g.138071724G>C	1000Genomes,ExAC,gnomAD
rs1159682286	p.Val513Asp	missense variant	-	NC_000003.12:g.138071720A>T	gnomAD
rs148790083	p.Lys514Arg	missense variant	-	NC_000003.12:g.138071717T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756795805	p.Thr517Ser	missense variant	-	NC_000003.12:g.138071708G>C	ExAC,TOPMed,gnomAD
rs756795805	p.Thr517Ile	missense variant	-	NC_000003.12:g.138071708G>A	ExAC,TOPMed,gnomAD
rs147779217	p.Arg519Ter	stop gained	-	NC_000003.12:g.138071703T>A	ESP,ExAC,TOPMed,gnomAD
rs1248516032	p.Ala520Val	missense variant	-	NC_000003.12:g.138071699G>A	TOPMed,gnomAD
rs781686459	p.Ala520Thr	missense variant	-	NC_000003.12:g.138071700C>T	ExAC,gnomAD
rs1248516032	p.Ala520Glu	missense variant	-	NC_000003.12:g.138071699G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Lys521Glu	missense variant	-	NC_000003.12:g.138071697T>C	NCI-TCGA
rs751968525	p.Glu522Lys	missense variant	-	NC_000003.12:g.138071694C>T	ExAC,TOPMed,gnomAD
rs751968525	p.Glu522Ter	stop gained	-	NC_000003.12:g.138071694C>A	ExAC,TOPMed,gnomAD
rs929750748	p.Gln524Ter	stop gained	-	NC_000003.12:g.138071688G>A	TOPMed,gnomAD
rs929750748	p.Gln524Glu	missense variant	-	NC_000003.12:g.138071688G>C	TOPMed,gnomAD
rs1266014866	p.Glu525Lys	missense variant	-	NC_000003.12:g.138071685C>T	TOPMed,gnomAD
rs1227398254	p.Glu525Val	missense variant	-	NC_000003.12:g.138071684T>A	gnomAD
rs1239636050	p.Gly527Ser	missense variant	-	NC_000003.12:g.138071679C>T	TOPMed
rs750660072	p.Ala528Thr	missense variant	-	NC_000003.12:g.138071676C>T	ExAC,gnomAD
COSM4113902	p.Gln532Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138071663T>C	NCI-TCGA Cosmic
rs776674487	p.Pro533Thr	missense variant	-	NC_000003.12:g.138071661G>T	ExAC,gnomAD
rs1437907414	p.Asp534Asn	missense variant	-	NC_000003.12:g.138071658C>T	gnomAD
rs540859814	p.Gly535Arg	missense variant	-	NC_000003.12:g.138071655C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1447188312	p.Gln536Lys	missense variant	-	NC_000003.12:g.138071652G>T	TOPMed,gnomAD
rs775487339	p.Pro537Ser	missense variant	-	NC_000003.12:g.138071649G>A	ExAC,gnomAD
rs1427089135	p.Val539Phe	missense variant	-	NC_000003.12:g.138071643C>A	TOPMed
rs760762911	p.Ser541Arg	missense variant	-	NC_000003.12:g.138068362T>G	ExAC,gnomAD
rs1313026197	p.Thr545Ile	missense variant	-	NC_000003.12:g.138068349G>A	TOPMed
rs446644	p.Thr545Ala	missense variant	-	NC_000003.12:g.138068350T>C	UniProt,dbSNP
VAR_042757	p.Thr545Ala	missense variant	-	NC_000003.12:g.138068350T>C	UniProt
rs446644	p.Thr545Ala	missense variant	-	NC_000003.12:g.138068350T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs446644	p.Thr545Ser	missense variant	-	NC_000003.12:g.138068350T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759399609	p.Leu546Arg	missense variant	-	NC_000003.12:g.138068346A>C	ExAC,gnomAD
rs759399609	p.Leu546Pro	missense variant	-	NC_000003.12:g.138068346A>G	ExAC,gnomAD
rs773842291	p.Val547Phe	missense variant	-	NC_000003.12:g.138068344C>A	ExAC,gnomAD
rs201114444	p.Thr548Asn	missense variant	-	NC_000003.12:g.138068340G>T	1000Genomes,ExAC,gnomAD
rs1481754211	p.Thr548Ser	missense variant	-	NC_000003.12:g.138068341T>A	gnomAD
rs534908622	p.Arg549Thr	missense variant	-	NC_000003.12:g.138068337C>G	1000Genomes,ExAC,gnomAD
rs772774775	p.Glu550Asp	missense variant	-	NC_000003.12:g.138068333C>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu550Asp	missense variant	-	NC_000003.12:g.138068333C>A	NCI-TCGA
rs11917468	p.Ala551Val	missense variant	-	NC_000003.12:g.138068331G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780631525	p.Gln552Ter	stop gained	-	NC_000003.12:g.138068329G>A	ExAC,gnomAD
rs758647781	p.Lys554Gln	missense variant	-	NC_000003.12:g.138068323T>G	ExAC,gnomAD
rs746287400	p.Lys554Arg	missense variant	-	NC_000003.12:g.138068322T>C	ExAC,gnomAD
rs538978794	p.Gln559His	missense variant	-	NC_000003.12:g.138068306C>A	1000Genomes,ExAC,TOPMed
rs1162635826	p.Gln559Glu	missense variant	-	NC_000003.12:g.138068308G>C	gnomAD
rs879160523	p.Gln559Pro	missense variant	-	NC_000003.12:g.138068307T>G	TOPMed,gnomAD
rs1162635826	p.Gln559Ter	stop gained	-	NC_000003.12:g.138068308G>A	gnomAD
rs879160523	p.Gln559Arg	missense variant	-	NC_000003.12:g.138068307T>C	TOPMed,gnomAD
rs202118009	p.Ala561Ser	missense variant	-	NC_000003.12:g.138068302C>A	ESP,ExAC,TOPMed,gnomAD
rs202118009	p.Ala561Thr	missense variant	-	NC_000003.12:g.138068302C>T	ESP,ExAC,TOPMed,gnomAD
rs1160841809	p.Ala561Val	missense variant	-	NC_000003.12:g.138068301G>A	TOPMed,gnomAD
rs756276758	p.Leu562Phe	missense variant	-	NC_000003.12:g.138068297C>A	ExAC,TOPMed,gnomAD
rs752530275	p.Pro563Ser	missense variant	-	NC_000003.12:g.138068296G>A	ExAC,gnomAD
rs767522301	p.Ser564Cys	missense variant	-	NC_000003.12:g.138068292G>C	ExAC,gnomAD
rs1206422620	p.Pro566Ser	missense variant	-	NC_000003.12:g.138068287G>A	gnomAD
rs368560450	p.Pro566Leu	missense variant	-	NC_000003.12:g.138068286G>A	ESP,ExAC,TOPMed,gnomAD
rs766015567	p.Ala567Ser	missense variant	-	NC_000003.12:g.138068284C>A	ExAC,gnomAD
rs762524640	p.Ala567Glu	missense variant	-	NC_000003.12:g.138068283G>T	ExAC,TOPMed,gnomAD
rs1226781485	p.Pro569Leu	missense variant	-	NC_000003.12:g.138068277G>A	gnomAD
rs1226781485	p.Pro569Arg	missense variant	-	NC_000003.12:g.138068277G>C	gnomAD
COSM4923659	p.Pro569Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138068277G>T	NCI-TCGA Cosmic
rs1328804754	p.Pro570Thr	missense variant	-	NC_000003.12:g.138068275G>T	gnomAD
rs772860655	p.Pro571Ala	missense variant	-	NC_000003.12:g.138068272G>C	ExAC,TOPMed,gnomAD
COSM5059350	p.Pro571HisPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.138068271G>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro571Ser	missense variant	-	NC_000003.12:g.138068272G>A	NCI-TCGA
NCI-TCGA novel	p.Pro571Leu	missense variant	-	NC_000003.12:g.138068271G>A	NCI-TCGA
rs769240987	p.Pro572Leu	missense variant	-	NC_000003.12:g.138068268G>A	ExAC,gnomAD
rs1173892410	p.Thr573Ala	missense variant	-	NC_000003.12:g.138068266T>C	TOPMed
rs761414534	p.Thr573Asn	missense variant	-	NC_000003.12:g.138068265G>T	ExAC,gnomAD
rs772686379	p.Arg574His	missense variant	-	NC_000003.12:g.138068262C>T	ExAC,TOPMed,gnomAD
rs775832526	p.Arg574Cys	missense variant	-	NC_000003.12:g.138068263G>A	ExAC,gnomAD
rs775832526	p.Arg574Gly	missense variant	-	NC_000003.12:g.138068263G>C	ExAC,gnomAD
rs1398479551	p.Gln575His	missense variant	-	NC_000003.12:g.138068258C>G	TOPMed
rs746208976	p.Ser576Arg	missense variant	-	NC_000003.12:g.138068257T>G	ExAC,TOPMed,gnomAD
rs779404923	p.His577Arg	missense variant	-	NC_000003.12:g.138068253T>C	ExAC,TOPMed,gnomAD
rs771428040	p.Gly578Asp	missense variant	-	NC_000003.12:g.138068250C>T	ExAC,gnomAD
rs778165680	p.Ser579Asn	missense variant	-	NC_000003.12:g.138068247C>T	ExAC,gnomAD
rs199894224	p.His580Arg	missense variant	-	NC_000003.12:g.138068244T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1191115163	p.Gly581Val	missense variant	-	NC_000003.12:g.138068241C>A	gnomAD
NCI-TCGA novel	p.Gly581Cys	missense variant	-	NC_000003.12:g.138068242C>A	NCI-TCGA
rs752870031	p.Ser582Cys	missense variant	-	NC_000003.12:g.138068238G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser582Phe	missense variant	-	NC_000003.12:g.138068238G>A	NCI-TCGA
rs1207270158	p.Thr585Ile	missense variant	-	NC_000003.12:g.138068229G>A	TOPMed,gnomAD
rs766101391	p.Ser588Pro	missense variant	-	NC_000003.12:g.138068221A>G	ExAC,gnomAD
rs1365905031	p.Ala589Val	missense variant	-	NC_000003.12:g.138068217G>A	gnomAD
rs138745459	p.Ala589Thr	missense variant	-	NC_000003.12:g.138068218C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138745459	p.Ala589Ser	missense variant	-	NC_000003.12:g.138068218C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs760024871	p.Ala591Thr	missense variant	-	NC_000003.12:g.138068212C>T	ExAC,TOPMed,gnomAD
rs760024871	p.Ala591Pro	missense variant	-	NC_000003.12:g.138068212C>G	ExAC,TOPMed,gnomAD
rs775012857	p.Pro592Arg	missense variant	-	NC_000003.12:g.138068208G>C	ExAC,gnomAD
COSM4852863	p.Pro592Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138068209G>C	NCI-TCGA Cosmic
rs374045	p.Arg593Pro	missense variant	-	NC_000003.12:g.138068205C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771373191	p.Arg593Cys	missense variant	-	NC_000003.12:g.138068206G>A	ExAC,TOPMed,gnomAD
rs374045	p.Arg593His	missense variant	-	NC_000003.12:g.138068205C>T	UniProt,dbSNP
VAR_042759	p.Arg593His	missense variant	-	NC_000003.12:g.138068205C>T	UniProt
rs374045	p.Arg593His	missense variant	-	NC_000003.12:g.138068205C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778112346	p.Pro594Ala	missense variant	-	NC_000003.12:g.138068203G>C	ExAC,gnomAD
rs778112346	p.Pro594Ser	missense variant	-	NC_000003.12:g.138068203G>A	ExAC,gnomAD
rs748170830	p.Gly595Arg	missense variant	-	NC_000003.12:g.138068200C>T	ExAC,gnomAD
rs115489792	p.Gly595Glu	missense variant	-	NC_000003.12:g.138068199C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1187252650	p.Leu596Met	missense variant	-	NC_000003.12:g.138068197G>T	TOPMed,gnomAD
rs755026020	p.Leu596Pro	missense variant	-	NC_000003.12:g.138068196A>G	ExAC,TOPMed,gnomAD
rs751461802	p.Pro599Leu	missense variant	-	NC_000003.12:g.138068187G>A	ExAC,gnomAD
rs1255469851	p.Ser601Arg	missense variant	-	NC_000003.12:g.138068182T>G	gnomAD
rs1344452550	p.Thr602Pro	missense variant	-	NC_000003.12:g.138068179T>G	gnomAD
rs1394149805	p.Thr602Asn	missense variant	-	NC_000003.12:g.138068178G>T	TOPMed
rs757005981	p.Pro603Ala	missense variant	-	NC_000003.12:g.138068176G>C	ExAC,gnomAD
rs267599621	p.Pro604Leu	missense variant	-	NC_000003.12:g.138068172G>A	TOPMed
rs148944158	p.Ser606Leu	missense variant	-	NC_000003.12:g.138068166G>A	ESP,ExAC,TOPMed,gnomAD
rs774961481	p.Gly607Arg	missense variant	-	NC_000003.12:g.138068164C>T	ExAC,gnomAD
rs1376566834	p.Pro608Ala	missense variant	-	NC_000003.12:g.138068161G>C	gnomAD
rs532478266	p.Gly609Arg	missense variant	-	NC_000003.12:g.138068158C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1371884211	p.Gly609Ala	missense variant	-	NC_000003.12:g.138068157C>G	gnomAD
rs532478266	p.Gly609Trp	missense variant	-	NC_000003.12:g.138068158C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs150239870	p.Met610Ile	missense variant	-	NC_000003.12:g.138068153C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met610Ter	frameshift	-	NC_000003.12:g.138068162C>-	NCI-TCGA
rs772148042	p.Thr612Met	missense variant	-	NC_000003.12:g.138067698G>A	ExAC,gnomAD
rs142662020	p.Pro613Ala	missense variant	-	NC_000003.12:g.138067696G>C	ESP,ExAC,TOPMed,gnomAD
rs749078245	p.Pro613His	missense variant	-	NC_000003.12:g.138067695G>T	ExAC,gnomAD
rs749078245	p.Pro613Leu	missense variant	-	NC_000003.12:g.138067695G>A	ExAC,gnomAD
rs142662020	p.Pro613Ser	missense variant	-	NC_000003.12:g.138067696G>A	ESP,ExAC,TOPMed,gnomAD
rs369290439	p.Pro614Leu	missense variant	-	NC_000003.12:g.138067692G>A	ESP,ExAC,TOPMed,gnomAD
COSM6163541	p.Pro614Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138067692G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro614ArgPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.138067692G>-	NCI-TCGA
rs543412067	p.Ser616Arg	missense variant	-	NC_000003.12:g.138067685A>C	1000Genomes,ExAC,gnomAD
rs529669063	p.Ser617Tyr	missense variant	-	NC_000003.12:g.138067683G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs529669063	p.Ser617Phe	missense variant	-	NC_000003.12:g.138067683G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs765699862	p.Glu618Lys	missense variant	-	NC_000003.12:g.138067681C>T	ExAC,gnomAD
rs762213182	p.Glu619Gly	missense variant	-	NC_000003.12:g.138067677T>C	ExAC
rs764375377	p.Asp620Asn	missense variant	-	NC_000003.12:g.138067675C>T	ExAC,gnomAD
rs760823265	p.Ser621Ter	stop gained	-	NC_000003.12:g.138067671G>C	ExAC,gnomAD
rs370494844	p.Arg625Cys	missense variant	-	NC_000003.12:g.138067660G>A	ESP,ExAC,TOPMed,gnomAD
rs377337730	p.Arg625His	missense variant	-	NC_000003.12:g.138067659C>T	ESP,ExAC,TOPMed,gnomAD
rs1379450020	p.Gln627Ter	stop gained	-	NC_000003.12:g.138067654G>A	gnomAD
rs759643891	p.Gln627His	missense variant	-	NC_000003.12:g.138067652C>A	ExAC,TOPMed,gnomAD
rs146774074	p.Arg628Cys	missense variant	-	NC_000003.12:g.138067651G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs111285595	p.Arg628His	missense variant	-	NC_000003.12:g.138067650C>T	ESP,ExAC,TOPMed,gnomAD
rs749097141	p.Ser630Phe	missense variant	-	NC_000003.12:g.138067644G>A	ExAC,TOPMed,gnomAD
rs747753833	p.Pro633Thr	missense variant	-	NC_000003.12:g.138067636G>T	ExAC,TOPMed,gnomAD
rs747753833	p.Pro633Ser	missense variant	-	NC_000003.12:g.138067636G>A	ExAC,TOPMed,gnomAD
rs1204203694	p.Val636Phe	missense variant	-	NC_000003.12:g.138067627C>A	TOPMed,gnomAD
rs1276163556	p.Ser638Phe	missense variant	-	NC_000003.12:g.138067620G>A	gnomAD
rs1231676478	p.Arg639Lys	missense variant	-	NC_000003.12:g.138067617C>T	gnomAD
rs781023042	p.Met640Val	missense variant	-	NC_000003.12:g.138067615T>C	ExAC,TOPMed,gnomAD
rs1299030399	p.Met640Ile	missense variant	-	NC_000003.12:g.138067613C>T	gnomAD
rs373021639	p.Pro642Ser	missense variant	-	NC_000003.12:g.138067609G>A	ESP,ExAC,TOPMed,gnomAD
rs150921263	p.Arg643Trp	missense variant	-	NC_000003.12:g.138067606G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754376571	p.Arg643Gln	missense variant	-	NC_000003.12:g.138067605C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg643GlyPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.138067606G>-	NCI-TCGA
NCI-TCGA novel	p.Arg643Pro	missense variant	-	NC_000003.12:g.138067605C>G	NCI-TCGA
rs1236455717	p.Pro644Arg	missense variant	-	NC_000003.12:g.138067602G>C	gnomAD
rs1432753398	p.Pro644Ser	missense variant	-	NC_000003.12:g.138067603G>A	gnomAD
rs1313803801	p.Lys645Arg	missense variant	-	NC_000003.12:g.138067599T>C	TOPMed
rs442800	p.Lys645Gln	missense variant	-	NC_000003.12:g.138067600T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs442800	p.Lys645Glu	missense variant	-	NC_000003.12:g.138067600T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767768205	p.Asp646Val	missense variant	-	NC_000003.12:g.138067596T>A	ExAC,gnomAD
rs759590993	p.Trp648Ter	stop gained	-	NC_000003.12:g.138067590C>T	ExAC,TOPMed,gnomAD
rs1225458100	p.Trp650Leu	missense variant	-	NC_000003.12:g.138067584C>A	TOPMed
rs774354933	p.Trp650Arg	missense variant	-	NC_000003.12:g.138067585A>G	ExAC,gnomAD
rs1251007680	p.Glu654Gln	missense variant	-	NC_000003.12:g.138067573C>G	TOPMed
COSM4113900	p.Thr655Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138067569G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr655Ser	missense variant	-	NC_000003.12:g.138067570T>A	NCI-TCGA
rs370129719	p.Ser656Leu	missense variant	-	NC_000003.12:g.138067566G>A	ESP,ExAC,TOPMed,gnomAD
rs771045432	p.Ser656Ala	missense variant	-	NC_000003.12:g.138067567A>C	ExAC,TOPMed,gnomAD
rs1011282093	p.Asn659Asp	missense variant	-	NC_000003.12:g.138067558T>C	TOPMed,gnomAD
rs1340463868	p.Asn659Ser	missense variant	-	NC_000003.12:g.138067557T>C	gnomAD
NCI-TCGA novel	p.Asn659Ile	missense variant	-	NC_000003.12:g.138067557T>A	NCI-TCGA
rs1270049631	p.Ala660Gly	missense variant	-	NC_000003.12:g.138067554G>C	gnomAD
rs769672232	p.Pro662His	missense variant	-	NC_000003.12:g.138067548G>T	ExAC,gnomAD
rs1342537176	p.Pro662Ser	missense variant	-	NC_000003.12:g.138067549G>A	gnomAD
rs747991781	p.Pro663Ala	missense variant	-	NC_000003.12:g.138067546G>C	ExAC,gnomAD
rs1169072131	p.Ser667Leu	missense variant	-	NC_000003.12:g.138067533G>A	gnomAD
rs1425368656	p.Ser667Ala	missense variant	-	NC_000003.12:g.138067534A>C	TOPMed
rs768478437	p.Gly668Ter	stop gained	-	NC_000003.12:g.138067531C>A	ExAC,gnomAD
rs1415712239	p.Thr669Lys	missense variant	-	NC_000003.12:g.138064764G>T	gnomAD
rs369063453	p.Val671Leu	missense variant	-	NC_000003.12:g.138064759C>G	ESP,ExAC,TOPMed,gnomAD
rs970655990	p.Gln672Lys	missense variant	-	NC_000003.12:g.138064756G>T	gnomAD
rs970655990	p.Gln672Ter	stop gained	-	NC_000003.12:g.138064756G>A	gnomAD
rs1409633848	p.Gln672Arg	missense variant	-	NC_000003.12:g.138064755T>C	gnomAD
rs200415644	p.Ser673Leu	missense variant	-	NC_000003.12:g.138064752G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1232766980	p.Val675Phe	missense variant	-	NC_000003.12:g.138064747C>A	gnomAD
NCI-TCGA novel	p.Asn677Ile	missense variant	-	NC_000003.12:g.138064740T>A	NCI-TCGA
rs148421355	p.Leu678Val	missense variant	-	NC_000003.12:g.138064738G>C	ESP,TOPMed,gnomAD
rs1167223793	p.Glu679Gly	missense variant	-	NC_000003.12:g.138064734T>C	TOPMed
COSM1038963	p.Lys680Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138064731T>C	NCI-TCGA Cosmic
rs1472123809	p.Leu682Pro	missense variant	-	NC_000003.12:g.138064725A>G	gnomAD
rs756673061	p.Ala684Asp	missense variant	-	NC_000003.12:g.138064719G>T	ExAC,gnomAD
rs748509737	p.Pro685Leu	missense variant	-	NC_000003.12:g.138064716G>A	ExAC,gnomAD
rs781475894	p.Ala686Pro	missense variant	-	NC_000003.12:g.138064714C>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys687Asn	missense variant	-	NC_000003.12:g.138064709C>A	NCI-TCGA
rs2199948	p.Lys688Asn	missense variant	-	NC_000003.12:g.138064706C>G	gnomAD
rs201438371	p.Pro689Ser	missense variant	-	NC_000003.12:g.138064705G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201438371	p.Pro689Ala	missense variant	-	NC_000003.12:g.138064705G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs771180627	p.Ala690Thr	missense variant	-	NC_000003.12:g.138064702C>T	TOPMed,gnomAD
rs771180627	p.Ala690Pro	missense variant	-	NC_000003.12:g.138064702C>G	TOPMed,gnomAD
rs751691591	p.Gly691Ter	stop gained	-	NC_000003.12:g.138064699C>A	ExAC,gnomAD
rs766663674	p.Gly691Val	missense variant	-	NC_000003.12:g.138064698C>A	ExAC,gnomAD
rs1323692306	p.Gly692Arg	missense variant	-	NC_000003.12:g.138064696C>T	gnomAD
rs1460571527	p.Ser694Gly	missense variant	-	NC_000003.12:g.138064690T>C	gnomAD
rs1404987820	p.Ser694Asn	missense variant	-	NC_000003.12:g.138064689C>T	TOPMed
rs1388853060	p.Phe696Ile	missense variant	-	NC_000003.12:g.138064684A>T	gnomAD
rs758382573	p.Phe697Val	missense variant	-	NC_000003.12:g.138064681A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe697LeuPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.138064679A>-	NCI-TCGA
rs747435690	p.Met698TyrPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.138064678_138064679insA	NCI-TCGA,NCI-TCGA Cosmic
rs533624679	p.Pro699Thr	missense variant	-	NC_000003.12:g.138064675G>T	1000Genomes
rs1406623295	p.Asn700Asp	missense variant	-	NC_000003.12:g.138064672T>C	TOPMed,gnomAD
rs765257921	p.Arg705Gly	missense variant	-	NC_000003.12:g.138064657T>C	ExAC,gnomAD
COSM3846345	p.Arg705Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138064655C>A	NCI-TCGA Cosmic
rs761773290	p.Ala706Pro	missense variant	-	NC_000003.12:g.138064654C>G	ExAC,gnomAD
rs776725269	p.Ala706Asp	missense variant	-	NC_000003.12:g.138064653G>T	ExAC,TOPMed,gnomAD
rs374741388	p.Thr708Ile	missense variant	-	NC_000003.12:g.138064647G>A	ESP,ExAC,gnomAD
rs760553842	p.Pro709Ser	missense variant	-	NC_000003.12:g.138064645G>A	ExAC,TOPMed,gnomAD
rs1324606322	p.Gly710Val	missense variant	-	NC_000003.12:g.138064641C>A	TOPMed
rs1262902086	p.Gly710Ter	stop gained	-	NC_000003.12:g.138064642C>A	TOPMed
rs1205778681	p.Arg711Gly	missense variant	-	NC_000003.12:g.138064639T>C	TOPMed
rs1316401108	p.Gln714His	missense variant	-	NC_000003.12:g.138064628C>A	gnomAD
rs774979419	p.Gln714Arg	missense variant	-	NC_000003.12:g.138064629T>C	ExAC,gnomAD
COSM6096564	p.Gln714Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.138064630G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln714Glu	missense variant	-	NC_000003.12:g.138064630G>C	NCI-TCGA
COSM1038962	p.Asp718Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138062968C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu719Asp	missense variant	-	NC_000003.12:g.138062963C>G	NCI-TCGA
rs1455362166	p.Ser720Asn	missense variant	-	NC_000003.12:g.138062961C>T	gnomAD
rs1362196678	p.Asp721Tyr	missense variant	-	NC_000003.12:g.138062959C>A	gnomAD
rs1179570241	p.Ser726Phe	missense variant	-	NC_000003.12:g.138062943G>A	gnomAD
rs189060326	p.Glu728Gln	missense variant	-	NC_000003.12:g.138062938C>G	1000Genomes,ExAC,gnomAD
rs756163681	p.Asp729Gly	missense variant	-	NC_000003.12:g.138062934T>C	ExAC,gnomAD
rs1272071881	p.Asp733Ala	missense variant	-	NC_000003.12:g.138062922T>G	gnomAD
rs553034156	p.Asp735Gly	missense variant	-	NC_000003.12:g.138062916T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln736Arg	missense variant	-	NC_000003.12:g.138062913T>C	NCI-TCGA
rs766015580	p.Glu738Val	missense variant	-	NC_000003.12:g.138062907T>A	ExAC,gnomAD
rs766015580	p.Glu738Gly	missense variant	-	NC_000003.12:g.138062907T>C	ExAC,gnomAD
rs751410045	p.Glu738Ter	stop gained	-	NC_000003.12:g.138062908C>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu738Gln	missense variant	-	NC_000003.12:g.138062908C>G	NCI-TCGA
rs1237538106	p.Pro740Leu	missense variant	-	NC_000003.12:g.138062901G>A	TOPMed
rs764752654	p.Pro742Ser	missense variant	-	NC_000003.12:g.138062896G>A	ExAC,TOPMed,gnomAD
rs1488901022	p.Ser744Cys	missense variant	-	NC_000003.12:g.138062889G>C	TOPMed
rs776036159	p.Arg745His	missense variant	-	NC_000003.12:g.138062886C>T	ExAC,gnomAD
rs146029706	p.Arg745Ser	missense variant	-	NC_000003.12:g.138062887G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146029706	p.Arg745Cys	missense variant	-	NC_000003.12:g.138062887G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776036159	p.Arg745Pro	missense variant	-	NC_000003.12:g.138062886C>G	ExAC,gnomAD
rs577055084	p.Ser746Ter	stop gained	-	NC_000003.12:g.138062883G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs577055084	p.Ser746Leu	missense variant	-	NC_000003.12:g.138062883G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs768188379	p.Ser746Pro	missense variant	-	NC_000003.12:g.138062884A>G	ExAC,gnomAD
rs1191943533	p.Lys747Gln	missense variant	-	NC_000003.12:g.138062881T>G	TOPMed
rs774927015	p.Pro749Gln	missense variant	-	NC_000003.12:g.138062874G>T	ExAC,gnomAD
rs1269576432	p.Glu750Gly	missense variant	-	NC_000003.12:g.138062871T>C	TOPMed
COSM204920	p.Glu750Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138062870C>A	NCI-TCGA Cosmic
rs771430325	p.Lys751Asn	missense variant	-	NC_000003.12:g.138062867C>A	ExAC,TOPMed
rs1452277369	p.Phe752Ser	missense variant	-	NC_000003.12:g.138062865A>G	TOPMed,gnomAD
COSM445669	p.Gly753Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138062863C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly753Val	missense variant	-	NC_000003.12:g.138062862C>A	NCI-TCGA
rs911042347	p.Thr754Ile	missense variant	-	NC_000003.12:g.138062859G>A	TOPMed
rs1252206487	p.Gly755Ala	missense variant	-	NC_000003.12:g.138062856C>G	gnomAD
rs1420212476	p.Pro756Thr	missense variant	-	NC_000003.12:g.138062854G>T	TOPMed
rs199601496	p.Ser758Asn	missense variant	-	NC_000003.12:g.138062847C>T	ESP,ExAC,TOPMed,gnomAD
rs199601496	p.Ser758Thr	missense variant	-	NC_000003.12:g.138062847C>G	ESP,ExAC,TOPMed,gnomAD
rs1435331709	p.Ser759Phe	missense variant	-	NC_000003.12:g.138062844G>A	TOPMed
COSM1484665	p.Gln761Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138062838T>A	NCI-TCGA Cosmic
rs142617141	p.Pro762Ala	missense variant	-	NC_000003.12:g.138062836G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754972177	p.Pro762Arg	missense variant	-	NC_000003.12:g.138062835G>C	ExAC,gnomAD
rs142617141	p.Pro762Ser	missense variant	-	NC_000003.12:g.138062836G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200913886	p.Arg763Thr	missense variant	-	NC_000003.12:g.138062832C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs758211429	p.Val764Ala	missense variant	-	NC_000003.12:g.138062829A>G	ExAC,TOPMed,gnomAD
COSM4319413	p.Pro765Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138062827G>A	NCI-TCGA Cosmic
rs750050483	p.Ala766Gly	missense variant	-	NC_000003.12:g.138062823G>C	ExAC,gnomAD
rs200902457	p.Trp767Ter	stop gained	-	NC_000003.12:g.138062820C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0005424	Biliary Tract Diseases	group	HPO
C0009714	Hepatic Fibrosis, Congenital	disease	HPO
C0025990	Micrognathism	disease	HPO
C0030283	Pancreatic Cyst	disease	HPO
C0035078	Kidney Failure	disease	HPO
C0035229	Respiratory Insufficiency	phenotype	HPO
C0085548	Autosomal Recessive Polycystic Kidney Disease	disease	BEFREE;CTD_human;MGD;ORPHANET
C0152421	Macrotia	disease	HPO
C0267834	Liver cyst	phenotype	HPO
C0431718	Multiple renal cysts	phenotype	HPO
C0549613	Biliary tract abnormality	phenotype	HPO
C0554972	Large auricle	phenotype	HPO
C1565489	Renal Insufficiency	disease	HPO
C1691228	Cystic Kidney Diseases	group	GENOMICS_ENGLAND
C1839604	Renal failure in adulthood	phenotype	HPO
C1842876	Depressed nasal ridge	phenotype	HPO
C1850189	Large pinnae	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1857453	Renal hypoplasia/aplasia	phenotype	HPO
C1857486	Low-set, posteriorly rotated ears	phenotype	HPO
C1860394	Multiple pancreatic cysts	phenotype	HPO
C4020855	Respiratory function loss	phenotype	HPO
C4021986	Hypoplasia of the ear cartilage	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO
C4539903	POLYCYSTIC KIDNEY DISEASE 5	disease	CLINVAR;UNIPROT

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003676	nucleic acid binding	IEA
GO:0005515	protein binding	IPI
GO:0046872	metal ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007224	smoothened signaling pathway	IEA
GO:0021532	neural tube patterning	IEA
GO:0032880	regulation of protein localization	IMP
GO:0033504	floor plate development	IEA
GO:0060271	cilium assembly	IMP
GO:0060271	cilium assembly	IBA
GO:0061512	protein localization to cilium	IEA
GO:1905349	ciliary transition zone assembly	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005814	centriole	IDA
GO:0005930	axoneme	IEA
GO:0036064	ciliary basal body	IDA
GO:0036064	ciliary basal body	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
D020106	Acrylamide	Acrylamide results in decreased expression of DZIP1L mRNA	28959563
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of DZIP1L intron	30157460
C026487	benzo(e)pyrene	benzo(e)pyrene results in increased methylation of DZIP1L intron	30157460
D019324	beta-Naphthoflavone	[Diethylnitrosamine co-treated with beta-Naphthoflavone] results in increased expression of DZIP1L mRNA	18164116
C006780	bisphenol A	bisphenol A results in increased methylation of DZIP1L intron	30906313
C006780	bisphenol A	bisphenol A results in increased expression of DZIP1L mRNA	30816183
C038091	butylparaben	butylparaben results in increased expression of DZIP1L mRNA	29458080
C018475	butyraldehyde	butyraldehyde results in decreased expression of DZIP1L mRNA	26079696
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of DZIP1L mRNA	20938992
D002945	Cisplatin	Cisplatin results in decreased expression of DZIP1L mRNA	22023808
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of DZIP1L mRNA	21266533
D004041	Dietary Fats	Dietary Fats results in increased expression of DZIP1L mRNA	25016146
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with beta-Naphthoflavone] results in increased expression of DZIP1L mRNA	18164116
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of DZIP1L mRNA	30165855
D000431	Ethanol	Ethanol affects the expression of DZIP1L mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of DZIP1L mRNA	23129252
D017313	Fenretinide	Fenretinide results in increased expression of DZIP1L mRNA	28973697
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of DZIP1L mRNA	20938992
D008701	Methapyrilene	Methapyrilene results in increased methylation of DZIP1L intron	30157460
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of DZIP1L mRNA	20938992
C046012	pentanal	pentanal results in decreased expression of DZIP1L mRNA	26079696
D010936	Plant Extracts	Plant Extracts results in decreased expression of DZIP1L mRNA	23557933
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of DZIP1L mRNA	24680724
D014212	Tretinoin	Tretinoin results in increased expression of DZIP1L mRNA	20488242
D014520	Urethane	Urethane results in decreased expression of DZIP1L mRNA	28818685
D014635	Valproic Acid	Valproic Acid affects the expression of DZIP1L mRNA	17963808

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0966	Cell projection
KW-1186	Ciliopathy
KW-0969	Cilium
KW-0175	Coiled coil
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0225	Disease mutation
KW-0479	Metal-binding
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR032714	DZIP1_N
IPR013087	Znf_C2H2_type

PROSITE

PROSITE ID	PROSITE Term
PS00028	ZINC_FINGER_C2H2_1
PS50157	ZINC_FINGER_C2H2_2

Pfam

Pfam ID	Pfam Term
PF13815	Dzip-like_N