CleftGeneDB-Search

Gene: WFIKKN2

Basic information

Tag	Content
Uniprot ID	Q8TEU8; Q6UXZ9;
Entrez ID	124857
Genbank protein ID	AAQ88509.1; AAL77058.1;
Genbank nucleotide ID	NM_175575.5; NM_001330341.1;
Ensembl protein ID	ENSP00000311184
Ensembl nucleotide ID	ENSG00000173714
Gene name	WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2
Gene symbol	WFIKKN2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Protease-inhibitor that contains multiple distinct protease inhibitor domains. Probably has serine protease- and metalloprotease-inhibitor activity. Inhibits the biological activity of mature myostatin, but not activin (By similarity).
Sequence	MWAPRCRRFW SRWEQVAALL LLLLLLGVPP RSLALPPIRY SHAGICPNDM NPNLWVDAQS 60 TCRRECETDQ ECETYEKCCP NVCGTKSCVA ARYMDVKGKK GPVGMPKEAT CDHFMCLQQG 120 SECDIWDGQP VCKCKDRCEK EPSFTCASDG LTYYNRCYMD AEACSKGITL AVVTCRYHFT 180 WPNTSPPPPE TTMHPTTASP ETPELDMAAP ALLNNPVHQS VTMGETVSFL CDVVGRPRPE 240 ITWEKQLEDR ENVVMRPNHV RGNVVVTNIA QLVIYNAQLQ DAGIYTCTAR NVAGVLRADF 300 PLSVVRGHQA AATSESSPNG TAFPAAECLK PPDSEDCGEE QTRWHFDAQA NNCLTFTFGH 360 CHRNLNHFET YEACMLACMS GPLAACSLPA LQGPCKAYAP RWAYNSQTGQ CQSFVYGGCE 420 GNGNNFESRE ACEESCPFPR GNQRCRACKP RQKLVTSFCR SDFVILGRVS ELTEEPDSGR 480 ALVTVDEVLK DEKMGLKFLG QEPLEVTLLH VDWACPCPNV TVSEMPLIIM GEVDGGMAML 540 RPDSFVGASS ARRVRKLREV MHKKTCDVLK EFLGLH 576

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	WFIKKN2	491086	E2RSS4		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	WFIKKN2	102178659	A0A452FFV0		Capra hircus	Prediction	More>>
1:1 ortholog	WFIKKN2	124857	Q8TEU8		Homo sapiens	Prediction	More>>
1:1 ortholog	Wfikkn2	278507	Q7TQN3	CPO	Mus musculus	Publication	More>>
1:1 ortholog	WFIKKN2	468405	A0A2I3T853		Pan troglodytes	Prediction	More>>
1:1 ortholog	WFIKKN2		F1RTB4		Sus scrofa	Prediction	More>>
1:1 ortholog	WFIKKN2	100345789	G1SD75		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Wfikkn2	287631	D3Z9K5		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs781246142	p.Ala3Asp	missense variant	-	NC_000017.11:g.50835945C>A	ExAC,gnomAD
rs781246142	p.Ala3Val	missense variant	-	NC_000017.11:g.50835945C>T	ExAC,gnomAD
rs1338642849	p.Ala3Ser	missense variant	-	NC_000017.11:g.50835944G>T	gnomAD
rs1451697165	p.Arg5Lys	missense variant	-	NC_000017.11:g.50835951G>A	gnomAD
rs769984960	p.Arg5Ser	missense variant	-	NC_000017.11:g.50835952G>T	ExAC,gnomAD
rs773492695	p.Arg7Cys	missense variant	-	NC_000017.11:g.50835956C>T	ExAC,TOPMed,gnomAD
rs201714204	p.Arg7His	missense variant	-	NC_000017.11:g.50835957G>A	ESP,ExAC,TOPMed,gnomAD
rs771138910	p.Arg8Trp	missense variant	-	NC_000017.11:g.50835959C>T	ExAC,TOPMed,gnomAD
rs140211672	p.Arg8Pro	missense variant	-	NC_000017.11:g.50835960G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771138910	p.Arg8Gly	missense variant	-	NC_000017.11:g.50835959C>G	ExAC,TOPMed,gnomAD
rs140211672	p.Arg8Gln	missense variant	-	NC_000017.11:g.50835960G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1205598803	p.Phe9Cys	missense variant	-	NC_000017.11:g.50835963T>G	TOPMed,gnomAD
rs1461246549	p.Trp10Cys	missense variant	-	NC_000017.11:g.50835967G>T	gnomAD
rs141104835	p.Trp10Leu	missense variant	-	NC_000017.11:g.50835966G>T	ESP,ExAC,gnomAD
rs776256643	p.Arg12Cys	missense variant	-	NC_000017.11:g.50835971C>T	ExAC,gnomAD
rs761597315	p.Arg12His	missense variant	-	NC_000017.11:g.50835972G>A	ExAC,gnomAD
rs765012486	p.Glu14Gln	missense variant	-	NC_000017.11:g.50835977G>C	ExAC,gnomAD
rs1422403121	p.Gln15His	missense variant	-	NC_000017.11:g.50835982G>C	gnomAD
NCI-TCGA novel	p.Gln15His	missense variant	-	NC_000017.11:g.50835982G>T	NCI-TCGA
rs1205522753	p.Val16Met	missense variant	-	NC_000017.11:g.50835983G>A	TOPMed
rs1469893972	p.Ala17Gly	missense variant	-	NC_000017.11:g.50835987C>G	gnomAD
rs149885164	p.Ala18Val	missense variant	-	NC_000017.11:g.50835990C>T	ESP,TOPMed
rs758227263	p.Leu22Arg	missense variant	-	NC_000017.11:g.50836002T>G	ExAC,gnomAD
rs1030847243	p.Leu26Phe	missense variant	-	NC_000017.11:g.50836013C>T	TOPMed,gnomAD
rs754897993	p.Gly27Arg	missense variant	-	NC_000017.11:g.50836016G>C	ExAC,gnomAD
rs754897993	p.Gly27Arg	missense variant	-	NC_000017.11:g.50836016G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly27Trp	missense variant	-	NC_000017.11:g.50836016G>T	NCI-TCGA
rs1262958488	p.Val28Ala	missense variant	-	NC_000017.11:g.50836020T>C	gnomAD
rs781300288	p.Val28Leu	missense variant	-	NC_000017.11:g.50836019G>T	ExAC,gnomAD
rs748198972	p.Pro29Ser	missense variant	-	NC_000017.11:g.50836022C>T	ExAC,TOPMed,gnomAD
rs972473420	p.Pro29His	missense variant	-	NC_000017.11:g.50836023C>A	TOPMed,gnomAD
rs748198972	p.Pro29Thr	missense variant	-	NC_000017.11:g.50836022C>A	ExAC,TOPMed,gnomAD
rs1480545094	p.Pro30Leu	missense variant	-	NC_000017.11:g.50836026C>T	TOPMed,gnomAD
rs55700534	p.Arg31Gln	missense variant	-	NC_000017.11:g.50836029G>A	UniProt,dbSNP
VAR_061984	p.Arg31Gln	missense variant	-	NC_000017.11:g.50836029G>A	UniProt
rs55700534	p.Arg31Gln	missense variant	-	NC_000017.11:g.50836029G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1426584085	p.Arg31Ter	stop gained	-	NC_000017.11:g.50836028C>T	TOPMed,gnomAD
rs1159760916	p.Leu33Met	missense variant	-	NC_000017.11:g.50836034C>A	gnomAD
rs774562711	p.Ala34Val	missense variant	-	NC_000017.11:g.50836038C>T	ExAC,gnomAD
rs1366494603	p.Leu35Gln	missense variant	-	NC_000017.11:g.50836041T>A	TOPMed,gnomAD
rs772673628	p.Leu35Met	missense variant	-	NC_000017.11:g.50836040C>A	ExAC,TOPMed,gnomAD
rs776098786	p.Pro36Thr	missense variant	-	NC_000017.11:g.50836043C>A	ExAC,gnomAD
rs201015217	p.Pro36Leu	missense variant	-	NC_000017.11:g.50836044C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs776098786	p.Pro36Ser	missense variant	-	NC_000017.11:g.50836043C>T	ExAC,gnomAD
rs982742984	p.Pro37Ser	missense variant	-	NC_000017.11:g.50836046C>T	gnomAD
rs1309830357	p.Pro37Leu	missense variant	-	NC_000017.11:g.50836047C>T	gnomAD
rs140367331	p.Ile38Val	missense variant	-	NC_000017.11:g.50836049A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762508871	p.Arg39Cys	missense variant	-	NC_000017.11:g.50836052C>T	ExAC,TOPMed,gnomAD
rs145551843	p.Arg39His	missense variant	-	NC_000017.11:g.50836053G>A	ESP,ExAC,TOPMed,gnomAD
rs145551843	p.Arg39Leu	missense variant	-	NC_000017.11:g.50836053G>T	ESP,ExAC,TOPMed,gnomAD
rs762508871	p.Arg39Gly	missense variant	-	NC_000017.11:g.50836052C>G	ExAC,TOPMed,gnomAD
rs1266255923	p.His42Arg	missense variant	-	NC_000017.11:g.50836062A>G	gnomAD
rs530215778	p.Ala43Thr	missense variant	-	NC_000017.11:g.50836064G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs141933993	p.Gly44Ser	missense variant	-	NC_000017.11:g.50836067G>A	ESP,ExAC,TOPMed,gnomAD
rs1157894448	p.Ile45Phe	missense variant	-	NC_000017.11:g.50836070A>T	gnomAD
rs1301544625	p.Pro47Ser	missense variant	-	NC_000017.11:g.50836076C>T	gnomAD
rs779386286	p.Asn48Lys	missense variant	-	NC_000017.11:g.50836081C>A	ExAC,TOPMed,gnomAD
rs757392566	p.Asn48Ser	missense variant	-	NC_000017.11:g.50836080A>G	ExAC,TOPMed,gnomAD
rs150395238	p.Asp49His	missense variant	-	NC_000017.11:g.50836082G>C	ESP,ExAC,TOPMed,gnomAD
rs150395238	p.Asp49Asn	missense variant	-	NC_000017.11:g.50836082G>A	ESP,ExAC,TOPMed,gnomAD
rs780710697	p.Met50Val	missense variant	-	NC_000017.11:g.50836085A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met50Thr	missense variant	-	NC_000017.11:g.50836086T>C	NCI-TCGA
rs747460352	p.Pro52Thr	missense variant	-	NC_000017.11:g.50836091C>A	ExAC,TOPMed,gnomAD
rs1316267414	p.Pro52Leu	missense variant	-	NC_000017.11:g.50836092C>T	gnomAD
rs1362060510	p.Trp55Ter	stop gained	-	NC_000017.11:g.50836101G>A	gnomAD
rs1244179136	p.Val56Met	missense variant	-	NC_000017.11:g.50836103G>A	gnomAD
rs769403148	p.Val56Ala	missense variant	-	NC_000017.11:g.50836104T>C	ExAC,gnomAD
rs1401039087	p.Asp57His	missense variant	-	NC_000017.11:g.50836106G>C	TOPMed
rs138152713	p.Asp57Glu	missense variant	-	NC_000017.11:g.50836108C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM5149470	p.Ala58Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50836110C>A	NCI-TCGA Cosmic
COSM6147264	p.Ala58Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50836109G>T	NCI-TCGA Cosmic
rs762705683	p.Ala58Thr	missense variant	-	NC_000017.11:g.50836109G>A	ExAC,TOPMed,gnomAD
rs773941179	p.Ser60Gly	missense variant	-	NC_000017.11:g.50836115A>G	ExAC,TOPMed,gnomAD
rs1445106576	p.Ser60Asn	missense variant	-	NC_000017.11:g.50836116G>A	TOPMed
rs767228750	p.Thr61Asn	missense variant	-	NC_000017.11:g.50836119C>A	ExAC,gnomAD
rs1003648874	p.Thr61Pro	missense variant	-	NC_000017.11:g.50836118A>C	TOPMed,gnomAD
rs1352844469	p.Arg64Gln	missense variant	-	NC_000017.11:g.50836128G>A	TOPMed,gnomAD
rs764277294	p.Arg64Trp	missense variant	-	NC_000017.11:g.50836127C>T	ExAC,TOPMed,gnomAD
rs753842494	p.Glu65Gln	missense variant	-	NC_000017.11:g.50836130G>C	ExAC,TOPMed,gnomAD
rs757313230	p.Glu65Asp	missense variant	-	NC_000017.11:g.50836132G>T	ExAC,TOPMed,gnomAD
rs558234463	p.Thr68Arg	missense variant	-	NC_000017.11:g.50836140C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs558234463	p.Thr68Lys	missense variant	-	NC_000017.11:g.50836140C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs558234463	p.Thr68Met	missense variant	-	NC_000017.11:g.50836140C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs758847315	p.Asp69Asn	missense variant	-	NC_000017.11:g.50836142G>A	ExAC,gnomAD
rs780552882	p.Asp69Gly	missense variant	-	NC_000017.11:g.50836143A>G	ExAC,TOPMed,gnomAD
rs1214799785	p.Gln70Arg	missense variant	-	NC_000017.11:g.50836146A>G	TOPMed,gnomAD
rs747584943	p.Gln70Ter	stop gained	-	NC_000017.11:g.50836145C>T	ExAC,TOPMed,gnomAD
rs1402844485	p.Cys72Arg	missense variant	-	NC_000017.11:g.50839502T>C	gnomAD
rs1307769427	p.Glu73Lys	missense variant	-	NC_000017.11:g.50839505G>A	TOPMed
rs1240104569	p.Thr74Ile	missense variant	-	NC_000017.11:g.50839509C>T	TOPMed
rs1358302035	p.Tyr75Phe	missense variant	-	NC_000017.11:g.50839512A>T	gnomAD
NCI-TCGA novel	p.Glu76Gly	missense variant	-	NC_000017.11:g.50839515A>G	NCI-TCGA
rs1303314225	p.Cys79Tyr	missense variant	-	NC_000017.11:g.50839524G>A	gnomAD
rs144310014	p.Cys79Ter	stop gained	-	NC_000017.11:g.50839525C>A	ESP,ExAC,TOPMed,gnomAD
rs542531885	p.Asn81Lys	missense variant	-	NC_000017.11:g.50839531C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs562819910	p.Val82Ile	missense variant	-	NC_000017.11:g.50839532G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1351273059	p.Cys83Tyr	missense variant	-	NC_000017.11:g.50839536G>A	gnomAD
COSM3519446	p.Gly84Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50839539G>A	NCI-TCGA Cosmic
rs1225302970	p.Gly84Val	missense variant	-	NC_000017.11:g.50839539G>T	gnomAD
rs1439915086	p.Ser87Asn	missense variant	-	NC_000017.11:g.50839548G>A	gnomAD
rs796276301	p.Val89Met	missense variant	-	NC_000017.11:g.50839553G>A	-
rs768432266	p.Ala90Val	missense variant	-	NC_000017.11:g.50839557C>T	ExAC,gnomAD
COSM706875	p.Ala91Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50839559G>T	NCI-TCGA Cosmic
rs761796909	p.Ala91Val	missense variant	-	NC_000017.11:g.50839560C>T	ExAC,gnomAD
rs1198209575	p.Ala91Thr	missense variant	-	NC_000017.11:g.50839559G>A	gnomAD
rs1156711172	p.Arg92Cys	missense variant	-	NC_000017.11:g.50839562C>T	TOPMed
rs375564913	p.Arg92Leu	missense variant	-	NC_000017.11:g.50839563G>T	ESP,ExAC,TOPMed,gnomAD
rs375564913	p.Arg92His	missense variant	-	NC_000017.11:g.50839563G>A	ESP,ExAC,TOPMed,gnomAD
COSM473032	p.Tyr93Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50839565T>A	NCI-TCGA Cosmic
rs773394027	p.Met94Val	missense variant	-	NC_000017.11:g.50839568A>G	ExAC,TOPMed,gnomAD
rs35300894	p.Val96Leu	missense variant	-	NC_000017.11:g.50839574G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs35300894	p.Val96Met	missense variant	-	NC_000017.11:g.50839574G>A	UniProt,dbSNP
VAR_036692	p.Val96Met	missense variant	-	NC_000017.11:g.50839574G>A	UniProt
rs35300894	p.Val96Met	missense variant	-	NC_000017.11:g.50839574G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766729278	p.Lys100Arg	missense variant	-	NC_000017.11:g.50839587A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys100ArgPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.50839586A>-	NCI-TCGA
rs1384612482	p.Val103Ala	missense variant	-	NC_000017.11:g.50839596T>C	gnomAD
rs1336346700	p.Met105Ile	missense variant	-	NC_000017.11:g.50839603G>A	gnomAD
NCI-TCGA novel	p.Lys107Asn	missense variant	-	NC_000017.11:g.50839609G>T	NCI-TCGA
rs767861615	p.Glu108Asp	missense variant	-	NC_000017.11:g.50839612G>C	ExAC,gnomAD
rs755298115	p.Glu108Ter	stop gained	-	NC_000017.11:g.50839610G>T	ExAC,gnomAD
rs753215184	p.Ala109Val	missense variant	-	NC_000017.11:g.50839614C>T	ExAC,gnomAD
rs1489452695	p.Cys111Arg	missense variant	-	NC_000017.11:g.50839619T>C	TOPMed
rs756585346	p.Cys111Tyr	missense variant	-	NC_000017.11:g.50839620G>A	ExAC,gnomAD
rs1284356620	p.Asp112Glu	missense variant	-	NC_000017.11:g.50839624C>A	TOPMed
rs1354476166	p.Met115Ile	missense variant	-	NC_000017.11:g.50839633G>A	gnomAD
rs1216453578	p.Met115Val	missense variant	-	NC_000017.11:g.50839631A>G	TOPMed
NCI-TCGA novel	p.Cys116Arg	missense variant	-	NC_000017.11:g.50839634T>C	NCI-TCGA
NCI-TCGA novel	p.Ser121Tyr	missense variant	-	NC_000017.11:g.50839650C>A	NCI-TCGA
rs779578269	p.Cys123Tyr	missense variant	-	NC_000017.11:g.50839656G>A	ExAC,gnomAD
rs1037925951	p.Asp124Ala	missense variant	-	NC_000017.11:g.50839659A>C	gnomAD
NCI-TCGA novel	p.Asp124Asn	missense variant	-	NC_000017.11:g.50839658G>A	NCI-TCGA
rs746616318	p.Ile125Ser	missense variant	-	NC_000017.11:g.50839662T>G	ExAC,gnomAD
NCI-TCGA novel	p.Ile125Phe	missense variant	-	NC_000017.11:g.50839661A>T	NCI-TCGA
rs768393898	p.Asp127Gly	missense variant	-	NC_000017.11:g.50839668A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp127Asn	missense variant	-	NC_000017.11:g.50839667G>A	NCI-TCGA
rs546698855	p.Val131Met	missense variant	-	NC_000017.11:g.50839679G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs773233764	p.Cys132Tyr	missense variant	-	NC_000017.11:g.50839683G>A	ExAC,gnomAD
rs771064379	p.Cys134Trp	missense variant	-	NC_000017.11:g.50839690C>G	ExAC,gnomAD
rs1342078394	p.Cys134Tyr	missense variant	-	NC_000017.11:g.50839689G>A	TOPMed
rs774446941	p.Asp136Ala	missense variant	-	NC_000017.11:g.50839695A>C	ExAC,TOPMed,gnomAD
rs759787370	p.Arg137Cys	missense variant	-	NC_000017.11:g.50839697C>T	ExAC,TOPMed,gnomAD
rs767816747	p.Arg137His	missense variant	-	NC_000017.11:g.50839698G>A	ExAC,TOPMed,gnomAD
rs1316870551	p.Cys138Arg	missense variant	-	NC_000017.11:g.50839700T>C	gnomAD
NCI-TCGA novel	p.Lys140Asn	missense variant	-	NC_000017.11:g.50839708G>T	NCI-TCGA
rs1252053423	p.Glu141Asp	missense variant	-	NC_000017.11:g.50839711G>T	TOPMed,gnomAD
rs1252053423	p.Glu141Asp	missense variant	-	NC_000017.11:g.50839711G>C	TOPMed,gnomAD
rs1244344687	p.Glu141Lys	missense variant	-	NC_000017.11:g.50839709G>A	gnomAD
rs1255236838	p.Pro142Leu	missense variant	-	NC_000017.11:g.50839713C>T	gnomAD
COSM1384373	p.Ser143ProPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.50839711_50839712insCC	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser143Gly	missense variant	-	NC_000017.11:g.50839715A>G	NCI-TCGA
rs753086954	p.Thr145Ile	missense variant	-	NC_000017.11:g.50839722C>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr145Pro	missense variant	-	NC_000017.11:g.50839721A>C	NCI-TCGA
rs764619543	p.Cys146Tyr	missense variant	-	NC_000017.11:g.50839725G>A	ExAC,gnomAD
rs991730280	p.Ala147Thr	missense variant	-	NC_000017.11:g.50839727G>A	TOPMed
rs368900996	p.Ser148Ter	stop gained	-	NC_000017.11:g.50839731C>A	ExAC,TOPMed,gnomAD
rs368900996	p.Ser148Leu	missense variant	-	NC_000017.11:g.50839731C>T	ExAC,TOPMed,gnomAD
rs754627583	p.Gly150Ser	missense variant	-	NC_000017.11:g.50839736G>A	ExAC,TOPMed,gnomAD
rs780897175	p.Thr152Ser	missense variant	-	NC_000017.11:g.50839743C>G	ExAC,gnomAD
rs535856714	p.Tyr153Cys	missense variant	-	NC_000017.11:g.50839746A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs769670406	p.Tyr154His	missense variant	-	NC_000017.11:g.50839748T>C	ExAC,gnomAD
rs372428466	p.Arg156Cys	missense variant	-	NC_000017.11:g.50839754C>T	TOPMed,gnomAD
rs372428466	p.Arg156Ser	missense variant	-	NC_000017.11:g.50839754C>A	TOPMed,gnomAD
rs777854021	p.Arg156His	missense variant	-	NC_000017.11:g.50839755G>A	ExAC,gnomAD
rs1395192155	p.Met159Val	missense variant	-	NC_000017.11:g.50839763A>G	gnomAD
rs1296605880	p.Met159Thr	missense variant	-	NC_000017.11:g.50839764T>C	gnomAD
COSM77017	p.Glu162Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50839774G>C	NCI-TCGA Cosmic
rs774462465	p.Glu162Lys	missense variant	-	NC_000017.11:g.50839772G>A	ExAC,TOPMed,gnomAD
rs772363912	p.Ala163Thr	missense variant	-	NC_000017.11:g.50839775G>A	ExAC,gnomAD
rs775538154	p.Ala163Val	missense variant	-	NC_000017.11:g.50839776C>T	ExAC,gnomAD
rs761033915	p.Lys166Thr	missense variant	-	NC_000017.11:g.50839785A>C	ExAC,TOPMed,gnomAD
rs1483145076	p.Gly167Asp	missense variant	-	NC_000017.11:g.50839788G>A	gnomAD
rs201503900	p.Ile168Leu	missense variant	-	NC_000017.11:g.50839790A>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Thr169Ile	missense variant	-	NC_000017.11:g.50839794C>T	NCI-TCGA
rs1478589376	p.Leu170Val	missense variant	-	NC_000017.11:g.50839796C>G	TOPMed,gnomAD
rs574423328	p.Val172Ile	missense variant	-	NC_000017.11:g.50839802G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs753389911	p.Thr174Asn	missense variant	-	NC_000017.11:g.50839809C>A	ExAC,TOPMed,gnomAD
rs753389911	p.Thr174Ile	missense variant	-	NC_000017.11:g.50839809C>T	ExAC,TOPMed,gnomAD
rs751057329	p.Thr174Ala	missense variant	-	NC_000017.11:g.50839808A>G	ExAC,gnomAD
rs751057329	p.Thr174Pro	missense variant	-	NC_000017.11:g.50839808A>C	ExAC,gnomAD
rs745565549	p.Cys175Arg	missense variant	-	NC_000017.11:g.50839811T>C	TOPMed,gnomAD
rs752327614	p.Cys175Trp	missense variant	-	NC_000017.11:g.50839813C>G	ExAC,gnomAD
rs777694304	p.Arg176His	missense variant	-	NC_000017.11:g.50839815G>A	ExAC,TOPMed,gnomAD
rs755983785	p.Arg176Cys	missense variant	-	NC_000017.11:g.50839814C>T	ExAC,TOPMed,gnomAD
rs1239599388	p.Tyr177Cys	missense variant	-	NC_000017.11:g.50839818A>G	TOPMed
rs1346254639	p.His178Gln	missense variant	-	NC_000017.11:g.50839822C>A	gnomAD
rs1299867676	p.Thr180Ile	missense variant	-	NC_000017.11:g.50839827C>T	gnomAD
rs745992830	p.Trp181Arg	missense variant	-	NC_000017.11:g.50839829T>C	ExAC,gnomAD
NCI-TCGA novel	p.Trp181Cys	missense variant	-	NC_000017.11:g.50839831G>T	NCI-TCGA
COSM706874	p.Pro182Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50839832C>A	NCI-TCGA Cosmic
rs1240279183	p.Asn183Asp	missense variant	-	NC_000017.11:g.50839835A>G	gnomAD
rs374420185	p.Asn183Ser	missense variant	-	NC_000017.11:g.50839836A>G	ESP,ExAC,TOPMed,gnomAD
rs1240279183	p.Asn183His	missense variant	-	NC_000017.11:g.50839835A>C	gnomAD
rs769075599	p.Thr184Ser	missense variant	-	NC_000017.11:g.50839839C>G	ExAC,gnomAD
rs747221325	p.Thr184Ala	missense variant	-	NC_000017.11:g.50839838A>G	ExAC,gnomAD
rs769075599	p.Thr184Ile	missense variant	-	NC_000017.11:g.50839839C>T	ExAC,gnomAD
rs762355067	p.Pro186Ser	missense variant	-	NC_000017.11:g.50839844C>T	ExAC,gnomAD
rs765795460	p.Pro186Leu	missense variant	-	NC_000017.11:g.50839845C>T	ExAC,gnomAD
rs765795460	p.Pro186His	missense variant	-	NC_000017.11:g.50839845C>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro187HisPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.50839843C>-	NCI-TCGA
rs773549922	p.Pro188Leu	missense variant	-	NC_000017.11:g.50839851C>T	ExAC,TOPMed,gnomAD
rs759088693	p.Pro189Ser	missense variant	-	NC_000017.11:g.50839853C>T	ExAC,gnomAD
rs766876756	p.Glu190Asp	missense variant	-	NC_000017.11:g.50839858G>C	ExAC,gnomAD
rs1278199424	p.Thr191Ser	missense variant	-	NC_000017.11:g.50839859A>T	gnomAD
rs752452393	p.Met193Val	missense variant	-	NC_000017.11:g.50839865A>G	ExAC,gnomAD
rs755819712	p.His194Gln	missense variant	-	NC_000017.11:g.50839870C>A	ExAC,TOPMed,gnomAD
rs1458802295	p.His194Tyr	missense variant	-	NC_000017.11:g.50839868C>T	TOPMed
rs142981915	p.Ser199Phe	missense variant	-	NC_000017.11:g.50839884C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1285747910	p.Pro200Leu	missense variant	-	NC_000017.11:g.50839887C>T	TOPMed
COSM981322	p.Glu201Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50839891G>T	NCI-TCGA Cosmic
rs778917382	p.Glu201Gly	missense variant	-	NC_000017.11:g.50839890A>G	ExAC,gnomAD
COSM5992023	p.Pro203LeuPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.50839893C>-	NCI-TCGA Cosmic
rs745736910	p.Pro203Arg	missense variant	-	NC_000017.11:g.50839896C>G	ExAC,gnomAD
rs1339861171	p.Pro203Ala	missense variant	-	NC_000017.11:g.50839895C>G	TOPMed
rs758565263	p.Glu204Lys	missense variant	-	NC_000017.11:g.50839898G>A	ExAC,gnomAD
rs1359682137	p.Met207Val	missense variant	-	NC_000017.11:g.50839907A>G	gnomAD
rs780103869	p.Met207Ile	missense variant	-	NC_000017.11:g.50839909G>A	ExAC,gnomAD
COSM981323	p.Ala208Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50839910G>T	NCI-TCGA Cosmic
rs201815741	p.Ala208Gly	missense variant	-	NC_000017.11:g.50839911C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201815741	p.Ala208Val	missense variant	-	NC_000017.11:g.50839911C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1239887671	p.Ala209Thr	missense variant	-	NC_000017.11:g.50839913G>A	gnomAD
rs748574704	p.Pro210Thr	missense variant	-	NC_000017.11:g.50839916C>A	ExAC,gnomAD
rs748574704	p.Pro210Ala	missense variant	-	NC_000017.11:g.50839916C>G	ExAC,gnomAD
rs773779313	p.Ala211Val	missense variant	-	NC_000017.11:g.50839920C>T	ExAC,TOPMed,gnomAD
rs773779313	p.Ala211Glu	missense variant	-	NC_000017.11:g.50839920C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu212Met	missense variant	-	NC_000017.11:g.50839922C>A	NCI-TCGA
rs760217472	p.Asn215His	missense variant	-	NC_000017.11:g.50839931A>C	ExAC,gnomAD
rs763874251	p.Pro216Ser	missense variant	-	NC_000017.11:g.50839934C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro216His	missense variant	-	NC_000017.11:g.50839935C>A	NCI-TCGA
rs1015172818	p.Val217Gly	missense variant	-	NC_000017.11:g.50839938T>G	TOPMed
rs1472751047	p.Val217Met	missense variant	-	NC_000017.11:g.50839937G>A	TOPMed
rs754553708	p.His218Arg	missense variant	-	NC_000017.11:g.50839941A>G	ExAC,TOPMed,gnomAD
COSM6147261	p.Gln219His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50839945G>C	NCI-TCGA Cosmic
rs1375294498	p.Gln219Ter	stop gained	-	NC_000017.11:g.50839943C>T	gnomAD
rs1375294498	p.Gln219Lys	missense variant	-	NC_000017.11:g.50839943C>A	gnomAD
rs1041760944	p.Gln219His	missense variant	-	NC_000017.11:g.50839945G>T	gnomAD
rs573525340	p.Ser220Leu	missense variant	-	NC_000017.11:g.50839947C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs902818282	p.Met223Ile	missense variant	-	NC_000017.11:g.50839957G>C	gnomAD
rs902818282	p.Met223Ile	missense variant	-	NC_000017.11:g.50839957G>A	gnomAD
rs750443141	p.Met223Thr	missense variant	-	NC_000017.11:g.50839956T>C	ExAC,gnomAD
rs758237401	p.Glu225Gln	missense variant	-	NC_000017.11:g.50839961G>C	ExAC,gnomAD
rs9675120	p.Ser228Arg	missense variant	-	NC_000017.11:g.50839972C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780157281	p.Ser228Asn	missense variant	-	NC_000017.11:g.50839971G>A	ExAC,gnomAD
rs562619882	p.Leu230Phe	missense variant	-	NC_000017.11:g.50839976C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs562619882	p.Leu230Val	missense variant	-	NC_000017.11:g.50839976C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs770248381	p.Asp232Asn	missense variant	-	NC_000017.11:g.50839982G>A	ExAC,TOPMed,gnomAD
rs139465890	p.Val233Met	missense variant	-	NC_000017.11:g.50839985G>A	ESP,ExAC,TOPMed,gnomAD
rs1172887512	p.Val234Leu	missense variant	-	NC_000017.11:g.50839988G>T	gnomAD
rs1398813982	p.Gly235Ala	missense variant	-	NC_000017.11:g.50839992G>C	TOPMed,gnomAD
rs1398813982	p.Gly235Asp	missense variant	-	NC_000017.11:g.50839992G>A	TOPMed,gnomAD
rs191998613	p.Arg236Gly	missense variant	-	NC_000017.11:g.50839994C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs191998613	p.Arg236Trp	missense variant	-	NC_000017.11:g.50839994C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs564698752	p.Arg236Gln	missense variant	-	NC_000017.11:g.50839995G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs370465261	p.Arg238Gln	missense variant	-	NC_000017.11:g.50840001G>A	ESP,ExAC,TOPMed,gnomAD
rs760268496	p.Arg238Trp	missense variant	-	NC_000017.11:g.50840000C>T	ExAC,TOPMed,gnomAD
rs370465261	p.Arg238Leu	missense variant	-	NC_000017.11:g.50840001G>T	ESP,ExAC,TOPMed,gnomAD
rs776403480	p.Pro239Ala	missense variant	-	NC_000017.11:g.50840003C>G	ExAC,gnomAD
rs1218772738	p.Glu240Lys	missense variant	-	NC_000017.11:g.50840006G>A	gnomAD
rs761369901	p.Ile241Val	missense variant	-	NC_000017.11:g.50840009A>G	ExAC,gnomAD
rs765120415	p.Ile241Thr	missense variant	-	NC_000017.11:g.50840010T>C	ExAC,gnomAD
rs374081258	p.Leu247Val	missense variant	-	NC_000017.11:g.50840027T>G	ESP,ExAC,TOPMed,gnomAD
rs1263625500	p.Leu247Trp	missense variant	-	NC_000017.11:g.50840028T>G	gnomAD
rs1443962124	p.Asp249Val	missense variant	-	NC_000017.11:g.50840034A>T	TOPMed,gnomAD
rs1237172578	p.Arg250Gln	missense variant	-	NC_000017.11:g.50840037G>A	TOPMed,gnomAD
rs1207723247	p.Arg250Gly	missense variant	-	NC_000017.11:g.50840036C>G	TOPMed,gnomAD
rs1207723247	p.Arg250Trp	missense variant	-	NC_000017.11:g.50840036C>T	TOPMed,gnomAD
rs1196021905	p.Glu251Asp	missense variant	-	NC_000017.11:g.50840041G>T	gnomAD
rs766334925	p.Asn252Ser	missense variant	-	NC_000017.11:g.50840043A>G	ExAC,gnomAD
rs1477504958	p.Val253Met	missense variant	-	NC_000017.11:g.50840045G>A	gnomAD
rs751430437	p.Val254Ile	missense variant	-	NC_000017.11:g.50840048G>A	ExAC,gnomAD
rs527486493	p.Met255Leu	missense variant	-	NC_000017.11:g.50840051A>T	1000Genomes,ExAC,gnomAD
rs149692450	p.Arg256Gln	missense variant	-	NC_000017.11:g.50840055G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200820844	p.Arg256Trp	missense variant	-	NC_000017.11:g.50840054C>T	ESP,ExAC,gnomAD
rs778245094	p.Pro257Thr	missense variant	-	NC_000017.11:g.50840057C>A	ExAC,gnomAD
rs779579115	p.Asn258Lys	missense variant	-	NC_000017.11:g.50840062C>A	ExAC,gnomAD
rs771358823	p.Asn258Ser	missense variant	-	NC_000017.11:g.50840061A>G	ExAC,gnomAD
COSM3519450	p.His259Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840063C>T	NCI-TCGA Cosmic
rs746366831	p.His259Arg	missense variant	-	NC_000017.11:g.50840064A>G	ExAC,TOPMed,gnomAD
rs1219940325	p.Val260Met	missense variant	-	NC_000017.11:g.50840066G>A	TOPMed
rs146708003	p.Arg261His	missense variant	-	NC_000017.11:g.50840070G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775975463	p.Arg261Cys	missense variant	-	NC_000017.11:g.50840069C>T	ExAC,TOPMed,gnomAD
COSM1384379	p.Gly262Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840072G>T	NCI-TCGA Cosmic
rs756317416	p.Val264Met	missense variant	-	NC_000017.11:g.50840078G>A	ExAC,TOPMed,gnomAD
rs1488026228	p.Val266Phe	missense variant	-	NC_000017.11:g.50840084G>T	gnomAD
rs1249026446	p.Ile269Thr	missense variant	-	NC_000017.11:g.50840094T>C	gnomAD
NCI-TCGA novel	p.Ala270Val	missense variant	-	NC_000017.11:g.50840097C>T	NCI-TCGA
COSM3519451	p.Val273Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840105G>A	NCI-TCGA Cosmic
rs774329151	p.Val273Phe	missense variant	-	NC_000017.11:g.50840105G>T	ExAC
rs1409186803	p.Tyr275Phe	missense variant	-	NC_000017.11:g.50840112A>T	gnomAD
rs1206217373	p.Asn276Ser	missense variant	-	NC_000017.11:g.50840115A>G	gnomAD
rs767671298	p.Ala277Thr	missense variant	-	NC_000017.11:g.50840117G>A	ExAC,gnomAD
rs1484728969	p.Ala277Asp	missense variant	-	NC_000017.11:g.50840118C>A	gnomAD
rs1418862095	p.Gln278His	missense variant	-	NC_000017.11:g.50840122G>C	gnomAD
rs1190404134	p.Gln278Ter	stop gained	-	NC_000017.11:g.50840120C>T	gnomAD
rs1158139873	p.Leu279Pro	missense variant	-	NC_000017.11:g.50840124T>C	gnomAD
COSM3519452	p.Asp281Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840129G>A	NCI-TCGA Cosmic
rs756167053	p.Ala282Gly	missense variant	-	NC_000017.11:g.50840133C>G	ExAC,TOPMed,gnomAD
rs756167053	p.Ala282Asp	missense variant	-	NC_000017.11:g.50840133C>A	ExAC,TOPMed,gnomAD
rs764230467	p.Thr288Lys	missense variant	-	NC_000017.11:g.50840151C>A	ExAC,TOPMed,gnomAD
rs764230467	p.Thr288Met	missense variant	-	NC_000017.11:g.50840151C>T	ExAC,TOPMed,gnomAD
rs1374386323	p.Ala289Ser	missense variant	-	NC_000017.11:g.50840153G>T	gnomAD
rs1242001611	p.Arg290Gln	missense variant	-	NC_000017.11:g.50840157G>A	TOPMed,gnomAD
rs757758304	p.Arg290Trp	missense variant	-	NC_000017.11:g.50840156C>T	ExAC,TOPMed,gnomAD
rs779415774	p.Asn291Lys	missense variant	-	NC_000017.11:g.50840161C>A	ExAC,TOPMed,gnomAD
rs746417786	p.Val292Met	missense variant	-	NC_000017.11:g.50840162G>A	ExAC,gnomAD
rs758954420	p.Val292Glu	missense variant	-	NC_000017.11:g.50840163T>A	ExAC,TOPMed,gnomAD
rs758954420	p.Val292Ala	missense variant	-	NC_000017.11:g.50840163T>C	ExAC,TOPMed,gnomAD
rs143687677	p.Val295Phe	missense variant	-	NC_000017.11:g.50840171G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143687677	p.Val295Ile	missense variant	-	NC_000017.11:g.50840171G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1233922917	p.Arg297Met	missense variant	-	NC_000017.11:g.50840178G>T	gnomAD
rs772752734	p.Ala298Ser	missense variant	-	NC_000017.11:g.50840180G>T	ExAC,TOPMed,gnomAD
rs372815087	p.Phe300Cys	missense variant	-	NC_000017.11:g.50840187T>G	ESP,ExAC,TOPMed,gnomAD
rs201598038	p.Pro301Leu	missense variant	-	NC_000017.11:g.50840190C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201034165	p.Ser303Trp	missense variant	-	NC_000017.11:g.50840196C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs201034165	p.Ser303Leu	missense variant	-	NC_000017.11:g.50840196C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1375788709	p.Val305Asp	missense variant	-	NC_000017.11:g.50840202T>A	gnomAD
rs764225855	p.Arg306Thr	missense variant	-	NC_000017.11:g.50840205G>C	ExAC,TOPMed,gnomAD
rs757523064	p.Gly307Asp	missense variant	-	NC_000017.11:g.50840208G>A	ExAC,gnomAD
COSM1384381	p.Gln309His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840215G>T	NCI-TCGA Cosmic
rs1197222474	p.Ala310Val	missense variant	-	NC_000017.11:g.50840217C>T	gnomAD
NCI-TCGA novel	p.Ala310ProPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.50840213_50840219CAGGCTG>-	NCI-TCGA
COSM706870	p.Ala311Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840219G>T	NCI-TCGA Cosmic
rs1237964670	p.Ala311Thr	missense variant	-	NC_000017.11:g.50840219G>A	gnomAD
COSM706869	p.Ala312Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840223C>T	NCI-TCGA Cosmic
COSM3795809	p.Glu315Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840233G>C	NCI-TCGA Cosmic
COSM3193015	p.Glu315Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840231G>A	NCI-TCGA Cosmic
rs768832854	p.Asn319Ser	missense variant	-	NC_000017.11:g.50840244A>G	ExAC,TOPMed,gnomAD
rs755637235	p.Gly320Cys	missense variant	-	NC_000017.11:g.50840246G>T	ExAC,gnomAD
rs1329153272	p.Thr321Ala	missense variant	-	NC_000017.11:g.50840249A>G	gnomAD
rs373654433	p.Thr321Met	missense variant	-	NC_000017.11:g.50840250C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala322Asp	missense variant	-	NC_000017.11:g.50840253C>A	NCI-TCGA
rs1338901148	p.Phe323Ser	missense variant	-	NC_000017.11:g.50840256T>C	TOPMed,gnomAD
rs367803084	p.Pro324Thr	missense variant	-	NC_000017.11:g.50840258C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141860715	p.Pro324Leu	missense variant	-	NC_000017.11:g.50840259C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141860715	p.Pro324Arg	missense variant	-	NC_000017.11:g.50840259C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs367803084	p.Pro324Ser	missense variant	-	NC_000017.11:g.50840258C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765589347	p.Ala325Val	missense variant	-	NC_000017.11:g.50840262C>T	ExAC,TOPMed,gnomAD
rs765589347	p.Ala325Glu	missense variant	-	NC_000017.11:g.50840262C>A	ExAC,TOPMed,gnomAD
rs1257923771	p.Ala325Thr	missense variant	-	NC_000017.11:g.50840261G>A	gnomAD
rs1440332245	p.Glu327Lys	missense variant	-	NC_000017.11:g.50840267G>A	gnomAD
rs1447998588	p.Leu329Pro	missense variant	-	NC_000017.11:g.50840274T>C	TOPMed,gnomAD
rs766751665	p.Pro331Thr	missense variant	-	NC_000017.11:g.50840279C>A	ExAC,TOPMed,gnomAD
rs1423737669	p.Pro331Leu	missense variant	-	NC_000017.11:g.50840280C>T	TOPMed,gnomAD
rs753365907	p.Glu339Lys	missense variant	-	NC_000017.11:g.50840303G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu339Asp	missense variant	-	NC_000017.11:g.50840305A>T	NCI-TCGA
rs756713667	p.Glu340Lys	missense variant	-	NC_000017.11:g.50840306G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln341His	missense variant	-	NC_000017.11:g.50840311G>T	NCI-TCGA
NCI-TCGA novel	p.Gln341Leu	missense variant	-	NC_000017.11:g.50840310A>T	NCI-TCGA
rs371031371	p.Arg343His	missense variant	-	NC_000017.11:g.50840316G>A	ESP,ExAC,TOPMed,gnomAD
rs957382387	p.Arg343Ser	missense variant	-	NC_000017.11:g.50840315C>A	TOPMed,gnomAD
rs957382387	p.Arg343Cys	missense variant	-	NC_000017.11:g.50840315C>T	TOPMed,gnomAD
rs147499684	p.Trp344Ter	stop gained	-	NC_000017.11:g.50840320G>A	ESP,TOPMed
rs990675643	p.His345Arg	missense variant	-	NC_000017.11:g.50840322A>G	TOPMed,gnomAD
rs771833676	p.Asp347Asn	missense variant	-	NC_000017.11:g.50840327G>A	ExAC,TOPMed,gnomAD
rs746969239	p.Gln349Arg	missense variant	-	NC_000017.11:g.50840334A>G	ExAC
rs571894222	p.Gln349His	missense variant	-	NC_000017.11:g.50840335G>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gln349His	missense variant	-	NC_000017.11:g.50840335G>T	NCI-TCGA
rs1344681547	p.Ala350Gly	missense variant	-	NC_000017.11:g.50840337C>G	TOPMed,gnomAD
rs1263399438	p.Asn351Ile	missense variant	-	NC_000017.11:g.50840340A>T	gnomAD
rs761990117	p.Cys353Arg	missense variant	-	NC_000017.11:g.50840345T>C	ExAC,gnomAD
rs375684150	p.Thr355Asn	missense variant	-	NC_000017.11:g.50840352C>A	ESP,ExAC,TOPMed,gnomAD
rs921358166	p.Phe356Ser	missense variant	-	NC_000017.11:g.50840355T>C	TOPMed
rs1347920562	p.Thr357Ala	missense variant	-	NC_000017.11:g.50840357A>G	TOPMed
rs986601473	p.Gly359Cys	missense variant	-	NC_000017.11:g.50840363G>T	TOPMed,gnomAD
rs986601473	p.Gly359Ser	missense variant	-	NC_000017.11:g.50840363G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gly359Asp	missense variant	-	NC_000017.11:g.50840364G>A	NCI-TCGA
rs1178063889	p.His362Tyr	missense variant	-	NC_000017.11:g.50840372C>T	gnomAD
rs368333058	p.Arg363Gly	missense variant	-	NC_000017.11:g.50840375C>G	ESP,ExAC,TOPMed,gnomAD
rs759765815	p.Arg363His	missense variant	-	NC_000017.11:g.50840376G>A	ExAC,gnomAD
rs368333058	p.Arg363Cys	missense variant	-	NC_000017.11:g.50840375C>T	ESP,ExAC,TOPMed,gnomAD
rs372245717	p.Leu365Phe	missense variant	-	NC_000017.11:g.50840381C>T	ESP,TOPMed,gnomAD
rs1297650586	p.Asn366Ser	missense variant	-	NC_000017.11:g.50840385A>G	gnomAD
rs756821685	p.Asn366Lys	missense variant	-	NC_000017.11:g.50840386C>A	ExAC,gnomAD
rs778393121	p.His367Asn	missense variant	-	NC_000017.11:g.50840387C>A	ExAC,gnomAD
rs750087705	p.His367Arg	missense variant	-	NC_000017.11:g.50840388A>G	ExAC,TOPMed,gnomAD
rs779524725	p.Ala373Asp	missense variant	-	NC_000017.11:g.50840406C>A	ExAC,TOPMed,gnomAD
rs768500912	p.Met375Thr	missense variant	-	NC_000017.11:g.50840412T>C	ExAC,gnomAD
rs140094985	p.Met375Val	missense variant	-	NC_000017.11:g.50840411A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM5149471	p.Ala377Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840417G>C	NCI-TCGA Cosmic
rs1037560344	p.Ala377Asp	missense variant	-	NC_000017.11:g.50840418C>A	gnomAD
rs748083417	p.Cys378Tyr	missense variant	-	NC_000017.11:g.50840421G>A	ExAC,gnomAD
rs1192877836	p.Met379Ile	missense variant	-	NC_000017.11:g.50840425G>A	gnomAD
COSM4067798	p.Ser380Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840427G>A	NCI-TCGA Cosmic
rs749518805	p.Gly381Arg	missense variant	-	NC_000017.11:g.50840429G>A	ExAC,TOPMed,gnomAD
rs372115241	p.Pro382Leu	missense variant	-	NC_000017.11:g.50840433C>T	ESP,ExAC,TOPMed,gnomAD
rs776046081	p.Ala385Ser	missense variant	-	NC_000017.11:g.50840441G>T	ExAC,TOPMed,gnomAD
rs776046081	p.Ala385Thr	missense variant	-	NC_000017.11:g.50840441G>A	ExAC,TOPMed,gnomAD
rs199953878	p.Ala385Val	missense variant	-	NC_000017.11:g.50840442C>T	ESP,ExAC,TOPMed,gnomAD
rs199953878	p.Ala385Glu	missense variant	-	NC_000017.11:g.50840442C>A	ESP,ExAC,TOPMed,gnomAD
rs766062053	p.Ser387Thr	missense variant	-	NC_000017.11:g.50840448G>C	ExAC,TOPMed
rs754876264	p.Ser387Arg	missense variant	-	NC_000017.11:g.50840449C>A	ExAC,TOPMed,gnomAD
rs754876264	p.Ser387Arg	missense variant	-	NC_000017.11:g.50840449C>G	ExAC,TOPMed,gnomAD
rs766062053	p.Ser387Asn	missense variant	-	NC_000017.11:g.50840448G>A	ExAC,TOPMed
rs1489546734	p.Leu388Gln	missense variant	-	NC_000017.11:g.50840451T>A	TOPMed
rs748136500	p.Pro389Thr	missense variant	-	NC_000017.11:g.50840453C>A	ExAC,gnomAD
rs748136500	p.Pro389Ala	missense variant	-	NC_000017.11:g.50840453C>G	ExAC,gnomAD
rs777517936	p.Ala390Thr	missense variant	-	NC_000017.11:g.50840456G>A	ExAC,TOPMed,gnomAD
rs761186463	p.Ala390Val	missense variant	-	NC_000017.11:g.50840457C>T	ExAC,TOPMed,gnomAD
rs774643906	p.Gly393Trp	missense variant	-	NC_000017.11:g.50840465G>T	ExAC,gnomAD
rs1223092065	p.Pro394Thr	missense variant	-	NC_000017.11:g.50840468C>A	TOPMed,gnomAD
rs1263667451	p.Cys395Tyr	missense variant	-	NC_000017.11:g.50840472G>A	gnomAD
NCI-TCGA novel	p.Cys395AlaPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.50840464G>-	NCI-TCGA
rs144416262	p.Ala399Glu	missense variant	-	NC_000017.11:g.50840484C>A	ESP,ExAC,TOPMed,gnomAD
rs373424836	p.Ala399Thr	missense variant	-	NC_000017.11:g.50840483G>A	ESP,ExAC,TOPMed,gnomAD
rs144416262	p.Ala399Val	missense variant	-	NC_000017.11:g.50840484C>T	ESP,ExAC,TOPMed,gnomAD
rs1318906216	p.Arg401His	missense variant	-	NC_000017.11:g.50840490G>A	gnomAD
rs764617600	p.Arg401Cys	missense variant	-	NC_000017.11:g.50840489C>T	ExAC,gnomAD
rs776937774	p.Trp402Ter	stop gained	-	NC_000017.11:g.50840493G>A	ExAC,gnomAD
rs148609730	p.Trp402Cys	missense variant	-	NC_000017.11:g.50840494G>C	ESP
rs776937774	p.Trp402Leu	missense variant	-	NC_000017.11:g.50840493G>T	ExAC,gnomAD
NCI-TCGA novel	p.Trp402Ter	stop gained	-	NC_000017.11:g.50840494G>A	NCI-TCGA
rs1031867476	p.Asn405Asp	missense variant	-	NC_000017.11:g.50840501A>G	TOPMed
rs762540301	p.Thr408Met	missense variant	-	NC_000017.11:g.50840511C>T	ExAC,TOPMed,gnomAD
rs1417855627	p.Gly409Asp	missense variant	-	NC_000017.11:g.50840514G>A	gnomAD
rs767468625	p.Gln410Arg	missense variant	-	NC_000017.11:g.50840517A>G	ExAC,gnomAD
rs754645434	p.Gln410Ter	stop gained	-	NC_000017.11:g.50840516C>T	ExAC,gnomAD
rs752558505	p.Gln412His	missense variant	-	NC_000017.11:g.50840524G>C	ExAC,gnomAD
COSM4963756	p.Ser413Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840526C>T	NCI-TCGA Cosmic
rs376269773	p.Tyr416His	missense variant	-	NC_000017.11:g.50840534T>C	ESP,ExAC,TOPMed,gnomAD
COSM3795812	p.Gly418Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840541G>A	NCI-TCGA Cosmic
rs757427745	p.Cys419Phe	missense variant	-	NC_000017.11:g.50840544G>T	ExAC,gnomAD
rs146688755	p.Glu420Lys	missense variant	-	NC_000017.11:g.50840546G>A	ESP,ExAC,TOPMed,gnomAD
rs146688755	p.Glu420Gln	missense variant	-	NC_000017.11:g.50840546G>C	ESP,ExAC,TOPMed,gnomAD
rs1193013256	p.Asn422Ser	missense variant	-	NC_000017.11:g.50840553A>G	TOPMed
rs1203530888	p.Asn425Ser	missense variant	-	NC_000017.11:g.50840562A>G	TOPMed,gnomAD
rs1238324863	p.Phe426Val	missense variant	-	NC_000017.11:g.50840564T>G	gnomAD
rs747379046	p.Glu427Asp	missense variant	-	NC_000017.11:g.50840569G>C	ExAC,gnomAD
rs370401378	p.Arg429Ser	missense variant	-	NC_000017.11:g.50840573C>A	ESP,ExAC,gnomAD
rs762220352	p.Arg429His	missense variant	-	NC_000017.11:g.50840574G>A	ExAC,TOPMed,gnomAD
rs370401378	p.Arg429Cys	missense variant	-	NC_000017.11:g.50840573C>T	ESP,ExAC,gnomAD
rs866548344	p.Ala431Asp	missense variant	-	NC_000017.11:g.50840580C>A	gnomAD
rs866548344	p.Ala431Val	missense variant	-	NC_000017.11:g.50840580C>T	gnomAD
NCI-TCGA novel	p.Cys432Tyr	missense variant	-	NC_000017.11:g.50840583G>A	NCI-TCGA
rs1177231418	p.Glu434Gly	missense variant	-	NC_000017.11:g.50840589A>G	gnomAD
rs376162378	p.Glu434Lys	missense variant	-	NC_000017.11:g.50840588G>A	ESP,ExAC,TOPMed,gnomAD
rs370541134	p.Ser435Leu	missense variant	-	NC_000017.11:g.50840592C>T	ESP,ExAC,TOPMed,gnomAD
rs1359452902	p.Ser435Pro	missense variant	-	NC_000017.11:g.50840591T>C	gnomAD
rs767304923	p.Pro437Ala	missense variant	-	NC_000017.11:g.50840597C>G	ExAC,gnomAD
rs767304923	p.Pro437Ser	missense variant	-	NC_000017.11:g.50840597C>T	ExAC,gnomAD
rs373708429	p.Pro437Leu	missense variant	-	NC_000017.11:g.50840598C>T	ESP,ExAC,TOPMed,gnomAD
rs1314918040	p.Arg440Thr	missense variant	-	NC_000017.11:g.50840607G>C	TOPMed
rs763780240	p.Arg440Gly	missense variant	-	NC_000017.11:g.50840606A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly441Glu	missense variant	-	NC_000017.11:g.50840610G>A	NCI-TCGA
rs753856394	p.Asn442Ile	missense variant	-	NC_000017.11:g.50840613A>T	ExAC,TOPMed,gnomAD
rs753856394	p.Asn442Ser	missense variant	-	NC_000017.11:g.50840613A>G	ExAC,TOPMed,gnomAD
rs931183800	p.Arg444Gly	missense variant	-	NC_000017.11:g.50840618C>G	TOPMed,gnomAD
rs931183800	p.Arg444Cys	missense variant	-	NC_000017.11:g.50840618C>T	TOPMed,gnomAD
rs368687044	p.Arg444His	missense variant	-	NC_000017.11:g.50840619G>A	ESP,ExAC,TOPMed,gnomAD
rs916209167	p.Cys445Arg	missense variant	-	NC_000017.11:g.50840621T>C	TOPMed
rs778864320	p.Cys445Tyr	missense variant	-	NC_000017.11:g.50840622G>A	ExAC,gnomAD
rs758406365	p.Arg446Gly	missense variant	-	NC_000017.11:g.50840624C>G	ExAC,TOPMed,gnomAD
rs371325202	p.Arg446Pro	missense variant	-	NC_000017.11:g.50840625G>C	ESP,ExAC,TOPMed,gnomAD
rs371325202	p.Arg446Gln	missense variant	-	NC_000017.11:g.50840625G>A	ESP,ExAC,TOPMed,gnomAD
rs758406365	p.Arg446Trp	missense variant	-	NC_000017.11:g.50840624C>T	ExAC,TOPMed,gnomAD
rs747221394	p.Ala447Thr	missense variant	-	NC_000017.11:g.50840627G>A	ExAC,gnomAD
COSM118033	p.Cys448Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.50840632C>A	NCI-TCGA Cosmic
rs1427719771	p.Cys448Phe	missense variant	-	NC_000017.11:g.50840631G>T	gnomAD
COSM3692001	p.Lys449Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840634A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys449Met	missense variant	-	NC_000017.11:g.50840634A>T	NCI-TCGA
rs769129205	p.Pro450Leu	missense variant	-	NC_000017.11:g.50840637C>T	ExAC,gnomAD
rs1324548220	p.Arg451Gln	missense variant	-	NC_000017.11:g.50840640G>A	TOPMed,gnomAD
rs1442186070	p.Leu454Arg	missense variant	-	NC_000017.11:g.50840649T>G	TOPMed
rs150663986	p.Val455Ile	missense variant	-	NC_000017.11:g.50840651G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375510528	p.Thr456Ser	missense variant	-	NC_000017.11:g.50840654A>T	ESP,ExAC,TOPMed,gnomAD
rs375510528	p.Thr456Ala	missense variant	-	NC_000017.11:g.50840654A>G	ESP,ExAC,TOPMed,gnomAD
rs771646942	p.Arg460Cys	missense variant	-	NC_000017.11:g.50840666C>T	ExAC,gnomAD
rs775338259	p.Arg460His	missense variant	-	NC_000017.11:g.50840667G>A	ExAC,TOPMed,gnomAD
rs764002133	p.Asp462Asn	missense variant	-	NC_000017.11:g.50840672G>A	ExAC,TOPMed,gnomAD
rs753601741	p.Leu466Val	missense variant	-	NC_000017.11:g.50840684C>G	ExAC,TOPMed,gnomAD
rs765091150	p.Arg468Gln	missense variant	-	NC_000017.11:g.50840691G>A	ExAC,TOPMed,gnomAD
rs761633207	p.Arg468Ter	stop gained	-	NC_000017.11:g.50840690C>T	ExAC,TOPMed,gnomAD
rs750303031	p.Thr473Ala	missense variant	-	NC_000017.11:g.50840705A>G	ExAC,gnomAD
rs780105838	p.Glu474Lys	missense variant	-	NC_000017.11:g.50840708G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu475Lys	missense variant	-	NC_000017.11:g.50840711G>A	NCI-TCGA
rs1394169787	p.Asp477Tyr	missense variant	-	NC_000017.11:g.50840717G>T	gnomAD
NCI-TCGA novel	p.Ser478Ter	stop gained	-	NC_000017.11:g.50840721C>A	NCI-TCGA
NCI-TCGA novel	p.Gly479Cys	missense variant	-	NC_000017.11:g.50840723G>T	NCI-TCGA
rs755132286	p.Arg480Cys	missense variant	-	NC_000017.11:g.50840726C>T	ExAC,TOPMed,gnomAD
rs748492095	p.Arg480His	missense variant	-	NC_000017.11:g.50840727G>A	ExAC,TOPMed,gnomAD
rs755132286	p.Arg480Gly	missense variant	-	NC_000017.11:g.50840726C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg480Ser	missense variant	-	NC_000017.11:g.50840726C>A	NCI-TCGA
rs764764577	p.Ala481Thr	missense variant	-	NC_000017.11:g.50840729G>A	ExAC,TOPMed,gnomAD
rs749796567	p.Ala481Val	missense variant	-	NC_000017.11:g.50840730C>T	ExAC,gnomAD
rs771773352	p.Leu482Pro	missense variant	-	NC_000017.11:g.50840733T>C	ExAC,gnomAD
rs1446379615	p.Val483Met	missense variant	-	NC_000017.11:g.50840735G>A	gnomAD
rs746481784	p.Asp491Val	missense variant	-	NC_000017.11:g.50840760A>T	ExAC,gnomAD
rs1277960752	p.Glu492Lys	missense variant	-	NC_000017.11:g.50840762G>A	TOPMed,gnomAD
rs1291784146	p.Lys493Ile	missense variant	-	NC_000017.11:g.50840766A>T	TOPMed
rs768228243	p.Met494Val	missense variant	-	NC_000017.11:g.50840768A>G	ExAC,gnomAD
rs1358709751	p.Leu496Phe	missense variant	-	NC_000017.11:g.50840774C>T	TOPMed
rs1239184712	p.Lys497Asn	missense variant	-	NC_000017.11:g.50840779G>T	gnomAD
rs765004822	p.Lys497Glu	missense variant	-	NC_000017.11:g.50840777A>G	ExAC,gnomAD
rs1264750169	p.Phe498Leu	missense variant	-	NC_000017.11:g.50840780T>C	TOPMed,gnomAD
rs1459331103	p.Gln501Glu	missense variant	-	NC_000017.11:g.50840789C>G	TOPMed,gnomAD
rs201737037	p.Gln501Leu	missense variant	-	NC_000017.11:g.50840790A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs762844264	p.Gln501His	missense variant	-	NC_000017.11:g.50840791G>T	ExAC,TOPMed,gnomAD
rs954026458	p.Pro503Leu	missense variant	-	NC_000017.11:g.50840796C>T	TOPMed
rs1415961242	p.Thr507Ile	missense variant	-	NC_000017.11:g.50840808C>T	gnomAD
rs752902840	p.Val511Met	missense variant	-	NC_000017.11:g.50840819G>A	ExAC,TOPMed,gnomAD
rs752902840	p.Val511Leu	missense variant	-	NC_000017.11:g.50840819G>T	ExAC,TOPMed,gnomAD
rs1400795213	p.Asp512Gly	missense variant	-	NC_000017.11:g.50840823A>G	gnomAD
NCI-TCGA novel	p.Asp512His	missense variant	-	NC_000017.11:g.50840822G>C	NCI-TCGA
NCI-TCGA novel	p.Asp512Tyr	missense variant	-	NC_000017.11:g.50840822G>T	NCI-TCGA
COSM473033	p.Pro516Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840834C>G	NCI-TCGA Cosmic
rs778275964	p.Asn519Ser	missense variant	-	NC_000017.11:g.50840844A>G	ExAC,gnomAD
rs757864632	p.Val520Met	missense variant	-	NC_000017.11:g.50840846G>A	ExAC,TOPMed,gnomAD
rs1286033846	p.Thr521Ser	missense variant	-	NC_000017.11:g.50840849A>T	gnomAD
rs368368753	p.Val522Met	missense variant	-	NC_000017.11:g.50840852G>A	ESP,ExAC,TOPMed,gnomAD
rs368368753	p.Val522Leu	missense variant	-	NC_000017.11:g.50840852G>C	ESP,ExAC,TOPMed,gnomAD
rs368368753	p.Val522Leu	missense variant	-	NC_000017.11:g.50840852G>T	ESP,ExAC,TOPMed,gnomAD
rs1248223297	p.Ser523Gly	missense variant	-	NC_000017.11:g.50840855A>G	TOPMed
rs1320498425	p.Glu524Lys	missense variant	-	NC_000017.11:g.50840858G>A	TOPMed,gnomAD
rs758296964	p.Pro526Leu	missense variant	-	NC_000017.11:g.50840865C>T	ExAC,TOPMed,gnomAD
rs866461668	p.Pro526Ser	missense variant	-	NC_000017.11:g.50840864C>T	TOPMed,gnomAD
rs866461668	p.Pro526Thr	missense variant	-	NC_000017.11:g.50840864C>A	TOPMed,gnomAD
rs762684778	p.Leu527Arg	missense variant	-	NC_000017.11:g.50840868T>G	ExAC,TOPMed,gnomAD
rs1424220458	p.Met530Lys	missense variant	-	NC_000017.11:g.50840877T>A	gnomAD
rs1467039586	p.Gly531Ala	missense variant	-	NC_000017.11:g.50840880G>C	gnomAD
COSM5132158	p.Glu532ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.50840878G>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu532Lys	missense variant	-	NC_000017.11:g.50840882G>A	NCI-TCGA
rs764077628	p.Val533Met	missense variant	-	NC_000017.11:g.50840885G>A	ExAC,TOPMed,gnomAD
rs149132129	p.Gly535Ser	missense variant	-	NC_000017.11:g.50840891G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly535Asp	missense variant	-	NC_000017.11:g.50840892G>A	NCI-TCGA
rs1279442864	p.Gly536Asp	missense variant	-	NC_000017.11:g.50840895G>A	gnomAD
rs1046447327	p.Gly536Cys	missense variant	-	NC_000017.11:g.50840894G>T	gnomAD
rs1046447327	p.Gly536Ser	missense variant	-	NC_000017.11:g.50840894G>A	gnomAD
rs766628664	p.Met537Ile	missense variant	-	NC_000017.11:g.50840899G>A	TOPMed,gnomAD
rs754287539	p.Met539Val	missense variant	-	NC_000017.11:g.50840903A>G	ExAC,gnomAD
rs371989745	p.Arg541Leu	missense variant	-	NC_000017.11:g.50840910G>T	ESP,ExAC,TOPMed,gnomAD
rs371989745	p.Arg541His	missense variant	-	NC_000017.11:g.50840910G>A	ESP,ExAC,TOPMed,gnomAD
rs779576946	p.Arg541Cys	missense variant	-	NC_000017.11:g.50840909C>T	ExAC,TOPMed,gnomAD
rs779576946	p.Arg541Ser	missense variant	-	NC_000017.11:g.50840909C>A	ExAC,TOPMed,gnomAD
rs1263896650	p.Pro542Arg	missense variant	-	NC_000017.11:g.50840913C>G	gnomAD
rs1186587700	p.Pro542Ser	missense variant	-	NC_000017.11:g.50840912C>T	gnomAD
NCI-TCGA novel	p.Pro542Leu	missense variant	-	NC_000017.11:g.50840913C>T	NCI-TCGA
rs777360585	p.Asp543Asn	missense variant	-	NC_000017.11:g.50840915G>A	ExAC,TOPMed,gnomAD
rs777360585	p.Asp543Tyr	missense variant	-	NC_000017.11:g.50840915G>T	ExAC,TOPMed,gnomAD
rs749082930	p.Asp543Val	missense variant	-	NC_000017.11:g.50840916A>T	ExAC,gnomAD
rs1466323777	p.Ser544Arg	missense variant	-	NC_000017.11:g.50840920C>G	gnomAD
rs770655764	p.Phe545Ser	missense variant	-	NC_000017.11:g.50840922T>C	ExAC,gnomAD
rs376723951	p.Ala548Ser	missense variant	-	NC_000017.11:g.50840930G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs376723951	p.Ala548Thr	missense variant	-	NC_000017.11:g.50840930G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs775664209	p.Ser549Leu	missense variant	-	NC_000017.11:g.50840934C>T	ExAC,gnomAD
rs760799642	p.Ser550Ile	missense variant	-	NC_000017.11:g.50840937G>T	ExAC,TOPMed,gnomAD
rs893269385	p.Ser550Gly	missense variant	-	NC_000017.11:g.50840936A>G	TOPMed
rs764417577	p.Ala551Thr	missense variant	-	NC_000017.11:g.50840939G>A	ExAC,TOPMed,gnomAD
rs1332075018	p.Ala551Asp	missense variant	-	NC_000017.11:g.50840940C>A	gnomAD
rs754056592	p.Arg552Cys	missense variant	-	NC_000017.11:g.50840942C>T	ExAC,gnomAD
rs762331072	p.Arg552Leu	missense variant	-	NC_000017.11:g.50840943G>T	ExAC,gnomAD
rs762331072	p.Arg552Pro	missense variant	-	NC_000017.11:g.50840943G>C	ExAC,gnomAD
rs762331072	p.Arg552His	missense variant	-	NC_000017.11:g.50840943G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg552Ser	missense variant	-	NC_000017.11:g.50840942C>A	NCI-TCGA
rs752279533	p.Arg553Gln	missense variant	-	NC_000017.11:g.50840946G>A	ExAC,TOPMed,gnomAD
rs147063873	p.Arg553Trp	missense variant	-	NC_000017.11:g.50840945C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys556Thr	missense variant	-	NC_000017.11:g.50840955A>C	NCI-TCGA
rs1260918880	p.Arg558Cys	missense variant	-	NC_000017.11:g.50840960C>T	gnomAD
rs540858152	p.Arg558His	missense variant	-	NC_000017.11:g.50840961G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1453998863	p.Val560Ile	missense variant	-	NC_000017.11:g.50840966G>A	gnomAD
rs373311123	p.Met561Lys	missense variant	-	NC_000017.11:g.50840970T>A	ESP,ExAC,gnomAD
rs373311123	p.Met561Thr	missense variant	-	NC_000017.11:g.50840970T>C	ESP,ExAC,gnomAD
rs200875842	p.His562Tyr	missense variant	-	NC_000017.11:g.50840972C>T	ESP,ExAC,TOPMed,gnomAD
rs772079733	p.Thr565Asn	missense variant	-	NC_000017.11:g.50840982C>A	ExAC,gnomAD
rs1288841501	p.Cys566Tyr	missense variant	-	NC_000017.11:g.50840985G>A	gnomAD
rs1392063315	p.Cys566Ter	stop gained	-	NC_000017.11:g.50840986T>A	gnomAD
rs373741652	p.Val568Ile	missense variant	-	NC_000017.11:g.50840990G>A	ESP,ExAC,TOPMed,gnomAD
rs1233136458	p.Leu569Phe	missense variant	-	NC_000017.11:g.50840993C>T	gnomAD
COSM3519455	p.Glu571Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840999G>A	NCI-TCGA Cosmic
rs762100144	p.Phe572Leu	missense variant	-	NC_000017.11:g.50841004T>A	ExAC,gnomAD
rs777064851	p.Phe572Cys	missense variant	-	NC_000017.11:g.50841003T>G	ExAC,gnomAD
COSM1384386	p.Leu573Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50841005C>A	NCI-TCGA Cosmic
rs1260134299	p.Leu573Pro	missense variant	-	NC_000017.11:g.50841006T>C	gnomAD
NCI-TCGA novel	p.Leu573Phe	missense variant	-	NC_000017.11:g.50841005C>T	NCI-TCGA
rs1488764139	p.Gly574Asp	missense variant	-	NC_000017.11:g.50841009G>A	gnomAD
rs765572666	p.Leu575Ser	missense variant	-	NC_000017.11:g.50841012T>C	ExAC,TOPMed,gnomAD
rs750823824	p.Leu575Phe	missense variant	-	NC_000017.11:g.50841013G>T	ExAC,gnomAD
rs763183840	p.His576Tyr	missense variant	-	NC_000017.11:g.50841014C>T	ExAC,gnomAD

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004867	serine-type endopeptidase inhibitor activity	IEA
GO:0005515	protein binding	IPI
GO:0008191	metalloendopeptidase inhibitor activity	IEA
GO:0048019	receptor antagonist activity	IDA
GO:0048019	receptor antagonist activity	IBA
GO:0050431	transforming growth factor beta binding	IPI
GO:0050431	transforming growth factor beta binding	IDA
GO:0050431	transforming growth factor beta binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001501	skeletal system development	IEA
GO:0007179	transforming growth factor beta receptor signaling pathway	ISS
GO:0010951	negative regulation of endopeptidase activity	IEA
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IDA
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IBA
GO:0032091	negative regulation of protein binding	IEA
GO:0043392	negative regulation of DNA binding	IEA
GO:0048747	muscle fiber development	IEA
GO:0060021	roof of mouth development	IEA
GO:2000272	negative regulation of signaling receptor activity	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005615	extracellular space	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of WFIKKN2 mRNA	21641981
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of WFIKKN2 gene	27153756
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of WFIKKN2 mRNA	21871943
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of WFIKKN2 mRNA	22300585
C006780	bisphenol A	bisphenol A results in decreased expression of WFIKKN2 mRNA	25181051
C018475	butyraldehyde	butyraldehyde results in increased expression of WFIKKN2 mRNA	26079696
D003634	DDT	DDT results in decreased expression of WFIKKN2 mRNA	30207508
D004726	Endosulfan	Endosulfan results in increased expression of WFIKKN2 mRNA	26615145
D004726	Endosulfan	Endosulfan results in decreased expression of WFIKKN2 mRNA	29391264
D006418	Heme	Heme metabolite results in decreased expression of WFIKKN2 mRNA	19191707
D008727	Methotrexate	Methotrexate results in increased expression of WFIKKN2 mRNA	24449571
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of WFIKKN2 mRNA	20188158; 26251327;
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased methylation of WFIKKN2 promoter	26251327
D011192	Potassium Dichromate	Potassium Dichromate results in decreased expression of WFIKKN2 mRNA	23608068
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of WFIKKN2 mRNA	21570461; 26377647;
D014227	Triazines	Triazines inhibits the reaction [IDH2 protein mutant form results in decreased expression of WFIKKN2 mRNA]	27469509
D014635	Valproic Acid	Valproic Acid results in increased methylation of WFIKKN2 gene	29154799
D014635	Valproic Acid	Valproic Acid affects the expression of WFIKKN2 mRNA	17963808
D014635	Valproic Acid	Valproic Acid results in increased expression of WFIKKN2 mRNA	29427782
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of WFIKKN2 gene	25560391

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0393	Immunoglobulin domain
KW-0481	Metalloenzyme inhibitor
KW-0483	Metalloprotease inhibitor
KW-0621	Polymorphism
KW-0646	Protease inhibitor
KW-1185	Reference proteome
KW-0677	Repeat
KW-0964	Secreted
KW-0722	Serine protease inhibitor
KW-0732	Signal

Interpro

InterPro ID	InterPro Term
IPR036645	Elafin-like_sf
IPR007110	Ig-like_dom
IPR036179	Ig-like_dom_sf
IPR013783	Ig-like_fold
IPR013098	Ig_I-set
IPR003599	Ig_sub
IPR003598	Ig_sub2
IPR002350	Kazal_dom
IPR036058	Kazal_dom_sf
IPR002223	Kunitz_BPTI
IPR036880	Kunitz_BPTI_sf
IPR001134	Netrin_domain
IPR018933	Netrin_module_non-TIMP
IPR020901	Prtase_inh_Kunz-CS
IPR008993	TIMP-like_OB-fold
IPR008197	WAP_dom
IPR033639	WFIKKN2

PROSITE

PROSITE ID	PROSITE Term
PS00280	BPTI_KUNITZ_1
PS50279	BPTI_KUNITZ_2
PS50835	IG_LIKE
PS51465	KAZAL_2
PS50189	NTR
PS51390	WAP

Pfam

Pfam ID	Pfam Term
PF07679	I-set
PF00014	Kunitz_BPTI
PF01759	NTR
PF00095	WAP

Gene: WFIKKN2

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

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-miRNA interaction