CleftGeneDB-Search

Gene: BNC2

Basic information

Tag	Content
Uniprot ID	Q6ZN30; B1APG9; Q6T3A3; Q8NAR2; Q9H6J0; Q9NXV0;
Entrez ID	54796
Genbank protein ID	BAA90908.1; BAB15269.1; BAC03837.1; BAD18545.1; AAR99389.1;
Genbank nucleotide ID	NM_017637.5
Ensembl protein ID	ENSP00000370047; ENSP00000431516;
Ensembl nucleotide ID	ENSG00000173068
Gene name	Zinc finger protein basonuclin-2
Gene symbol	BNC2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Probable transcription factor specific for skin keratinocytes. May play a role in the differentiation of spermatozoa and oocytes (PubMed:14988505). May also play an important role in early urinary-tract development (PubMed:31051115).
Sequence	MAHLGPTPPP HSLNYKSEDR LSEQDWPAYF KVPCCGVDTS QIESEEAEVD VRERETQRDR 60 EPKRARDLTL RDSCTDNSMQ FGTRTTTAEP GFMGTWQNAD TNLLFRMSQQ AIRCTLVNCT 120 CECFQPGKIN LRTCDQCKHG WVAHALDKLS TQHLYHPTQV EIVQSNVVFD ISSLMLYGTQ 180 AVPVRLKILL DRLFSVLKQE EVLHILHGLG WTLRDYVRGY ILQDAAGKVL DRWAIMSREE 240 EIITLQQFLR FGETKSIVEL MAIQEKEGQA VAVPSSKTDS DIRTFIESNN RTRSPSLLAH 300 LENSNPSSIH HFENIPNSLA FLLPFQYINP VSAPLLGLPP NGLLLEQPGL RLREPSLSTQ 360 NEYNESSESE VSPTPYKNDQ TPNRNALTSI TNVEPKTEPA CVSPIQNSAP VSDLTKTEHP 420 KSSFRIHRMR RMGSASRKGR VFCNACGKTF YDKGTLKIHY NAVHLKIKHR CTIEGCNMVF 480 SSLRSRNRHS ANPNPRLHMP MLRNNRDKDL IRATSGAATP VIASTKSNLA LTSPGRPPMG 540 FTTPPLDPVL QNPLPSQLVF SGLKTVQPVP PFYRSLLTPG EMVSPPTSLP TSPIIPTSGT 600 IEQHPPPPSE PVVPAVMMAT HEPSADLAPK KKPRKSSMPV KIEKEIIDTA DEFDDEDDDP 660 NDGGAVVNDM SHDNHCHSQE EMSPGMSVKD FSKHNRTRCI SRTEIRRADS MTSEDQEPER 720 DYENESESSE PKLGEESMEG DEHIHSEVSE KVLMNSERPD ENHSEPSHQD VIKVKEEFTD 780 PTYDMFYMSQ YGLYNGGGAS MAALHESFTS SLNYGSPQKF SPEGDLCSSP DPKICYVCKK 840 SFKSSYSVKL HYRNVHLKEM HVCTVAGCNA AFPSRRSRDR HSANINLHRK LLTKELDDMG 900 LDSSQPSLSK DLRDEFLVKI YGAQHPMGLD VREDASSPAG TEDSHLNGYG RGMAEDYMVL 960 DLSTTSSLQS SSSIHSSRES DAGSDEGILL DDIDGASDSG ESAHKAEAPA LPGSLGAEVS 1020 GSLMFSSLSG SNGGIMCNIC HKMYSNKGTL RVHYKTVHLR EMHKCKVPGC NMMFSSVRSR 1080 NRHSQNPNLH KNIPFTSVD 1099

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	BNC2		F1PDU8			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	BNC2	102186591	A0A452G5Q4			Capra hircus	Prediction	More>>
1:1 ortholog	BNC2	54796	Q6ZN30			Homo sapiens	Prediction	More>>
1:1 ortholog	Bnc2	242509	Q8BMQ3	CPO	E16.5	Mus musculus	Publication	More>>
1:1 ortholog	BNC2		A0A2I3TJH0			Pan troglodytes	Prediction	More>>
1:1 ortholog			A0A480LWE7			Sus scrofa	Prediction	More>>
1:1 ortholog	Bnc2	298189	D3ZZ22			Rattus norvegicus	Prediction	More>>
1:1 ortholog	bnc2	559327	C7DZJ6			Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs769895835	p.Ala2Thr	missense variant	-	NC_000009.12:g.16738485C>T	ExAC,TOPMed,gnomAD
rs769895835	p.Ala2Ser	missense variant	-	NC_000009.12:g.16738485C>A	ExAC,TOPMed,gnomAD
rs745890218	p.His3Arg	missense variant	-	NC_000009.12:g.16738481T>C	ExAC,gnomAD
rs781311953	p.His3Gln	missense variant	-	NC_000009.12:g.16738480G>T	ExAC,gnomAD
rs1260443450	p.Leu4Phe	missense variant	-	NC_000009.12:g.16738479G>A	gnomAD
NCI-TCGA novel	p.Gly5Arg	missense variant	-	NC_000009.12:g.16738476C>T	NCI-TCGA
NCI-TCGA novel	p.Gly5Glu	missense variant	-	NC_000009.12:g.16738475C>T	NCI-TCGA
rs753575838	p.Pro9Ser	missense variant	-	NC_000009.12:g.16738464G>A	ExAC,TOPMed,gnomAD
rs1267527651	p.His11Arg	missense variant	-	NC_000009.12:g.16738457T>C	gnomAD
rs766079461	p.Ser12Asn	missense variant	-	NC_000009.12:g.16738454C>T	ExAC,gnomAD
rs766079461	p.Ser12Thr	missense variant	-	NC_000009.12:g.16738454C>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys16AsnPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.16738441_16738442insAA	NCI-TCGA
rs1296414646	p.Lys16Glu	missense variant	-	NC_000009.12:g.16738443T>C	gnomAD
NCI-TCGA novel	p.Ser17Leu	missense variant	-	NC_000009.12:g.16738439G>A	NCI-TCGA
NCI-TCGA novel	p.Ser17PhePheSerTerUnkUnk	frameshift	-	NC_000009.12:g.16738439_16738440insAAGAA	NCI-TCGA
rs1344217950	p.Arg20Ser	missense variant	-	NC_000009.12:g.16738429C>G	gnomAD
rs1344217950	p.Arg20Ser	missense variant	-	NC_000009.12:g.16738429C>A	gnomAD
rs1344217950	p.Arg20Ser	missense variant	-	NC_000009.12:g.16738429C>A	NCI-TCGA
rs1340951827	p.Leu21Arg	missense variant	-	NC_000009.12:g.16738427A>C	TOPMed
rs1294622557	p.Leu21Val	missense variant	-	NC_000009.12:g.16738428G>C	TOPMed
rs79395563	p.Ser22Gly	missense variant	-	NC_000009.12:g.16738425T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767046032	p.Ser22Ile	missense variant	-	NC_000009.12:g.16738424C>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu23Ter	stop gained	-	NC_000009.12:g.16738422C>A	NCI-TCGA
COSM3906374	p.Gln24His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16738417T>G	NCI-TCGA Cosmic
COSM6182973	p.Pro27Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16738409G>T	NCI-TCGA Cosmic
rs542363188	p.Ala28Gly	missense variant	-	NC_000009.12:g.16738406G>C	gnomAD
rs768447707	p.Tyr29Cys	missense variant	-	NC_000009.12:g.16738403T>C	ExAC,gnomAD
rs1478748238	p.Lys31Thr	missense variant	-	NC_000009.12:g.16738397T>G	TOPMed,gnomAD
rs1484821383	p.Val32Ile	missense variant	-	NC_000009.12:g.16738395C>T	TOPMed
rs1484821383	p.Val32Ile	missense variant	-	NC_000009.12:g.16738395C>T	NCI-TCGA
rs114612810	p.Pro33Leu	missense variant	-	NC_000009.12:g.16738391G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368835020	p.Cys34Arg	missense variant	-	NC_000009.12:g.16738389A>G	ESP,TOPMed
rs775714848	p.Cys34Tyr	missense variant	-	NC_000009.12:g.16738388C>T	ExAC,TOPMed,gnomAD
rs1194252136	p.Gly36Ala	missense variant	-	NC_000009.12:g.16738382C>G	gnomAD
rs746074143	p.Gly36Arg	missense variant	-	NC_000009.12:g.16738383C>T	ExAC,gnomAD
COSM4936961	p.Gly36Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16738383C>A	NCI-TCGA Cosmic
rs1180254178	p.Val37Ile	missense variant	-	NC_000009.12:g.16738380C>T	TOPMed
COSM3906372	p.Val37Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16738379A>C	NCI-TCGA Cosmic
rs781197763	p.Asp38His	missense variant	-	NC_000009.12:g.16738377C>G	ExAC,gnomAD
rs1251937261	p.Thr39Ala	missense variant	-	NC_000009.12:g.16738374T>C	gnomAD
rs374759345	p.Gln41His	missense variant	-	NC_000009.12:g.16738366T>A	ESP,ExAC,TOPMed,gnomAD
rs1322023272	p.Gln41Ter	stop gained	-	NC_000009.12:g.16738368G>A	gnomAD
rs1224671349	p.Ile42Thr	missense variant	-	NC_000009.12:g.16738364A>G	gnomAD
rs751122043	p.Glu45Gln	missense variant	-	NC_000009.12:g.16727994C>G	ExAC,gnomAD
rs1242575883	p.Glu46Lys	missense variant	-	NC_000009.12:g.16727991C>T	gnomAD
rs371947650	p.Ala47Ser	missense variant	-	NC_000009.12:g.16727988C>A	ESP,ExAC,TOPMed,gnomAD
rs758399953	p.Val49Met	missense variant	-	NC_000009.12:g.16727982C>T	ExAC
rs752619220	p.Asp50Gly	missense variant	-	NC_000009.12:g.16727978T>C	ExAC,gnomAD
rs201020257	p.Val51Ala	missense variant	-	NC_000009.12:g.16727975A>G	1000Genomes
rs190711768	p.Glu53Asp	missense variant	-	NC_000009.12:g.16727968T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1260341155	p.Glu53Gln	missense variant	-	NC_000009.12:g.16727970C>G	gnomAD
rs569050720	p.Arg54Thr	missense variant	-	NC_000009.12:g.16727966C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs569050720	p.Arg54Lys	missense variant	-	NC_000009.12:g.16727966C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs569050720	p.Arg54Ile	missense variant	-	NC_000009.12:g.16727966C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs146566771	p.Thr56Arg	missense variant	-	NC_000009.12:g.16727960G>C	1000Genomes,ESP,TOPMed
rs145011045	p.Gln57His	missense variant	-	NC_000009.12:g.16727956C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000190258	p.Gln57His	missense variant	-	NC_000009.12:g.16727956C>A	ClinVar
rs145011045	p.Gln57His	missense variant	-	NC_000009.12:g.16727956C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs760776701	p.Gln57Glu	missense variant	-	NC_000009.12:g.16727958G>C	ExAC,gnomAD
rs748674572	p.Arg58Ile	missense variant	-	NC_000009.12:g.16727954C>A	ExAC,TOPMed,gnomAD
rs1242111217	p.Asp59His	missense variant	-	NC_000009.12:g.16727952C>G	TOPMed
rs751530232	p.Arg60Gly	missense variant	-	NC_000009.12:g.16727949T>C	ExAC,TOPMed,gnomAD
rs1381599444	p.Arg60Thr	missense variant	-	NC_000009.12:g.16727948C>G	gnomAD
rs751530232	p.Arg60Ter	stop gained	-	NC_000009.12:g.16727949T>A	ExAC,TOPMed,gnomAD
rs200847406	p.Glu61Lys	missense variant	-	NC_000009.12:g.16727946C>T	ExAC,gnomAD
rs200847406	p.Glu61Gln	missense variant	-	NC_000009.12:g.16727946C>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro62Ser	missense variant	-	NC_000009.12:g.16727943G>A	NCI-TCGA
NCI-TCGA novel	p.Pro62Gln	missense variant	-	NC_000009.12:g.16727942G>T	NCI-TCGA
rs780263163	p.Lys63Asn	missense variant	-	NC_000009.12:g.16727938C>G	ExAC,gnomAD
COSM1461588	p.Arg64Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16727936C>A	NCI-TCGA Cosmic
rs1266159546	p.Asp67His	missense variant	-	NC_000009.12:g.16727928C>G	TOPMed
rs1384908174	p.Thr69Ile	missense variant	-	NC_000009.12:g.16727921G>A	gnomAD
rs1384908174	p.Thr69Asn	missense variant	-	NC_000009.12:g.16727921G>T	gnomAD
NCI-TCGA novel	p.Thr69Pro	missense variant	-	NC_000009.12:g.16727922T>G	NCI-TCGA
NCI-TCGA novel	p.Leu70Ter	stop gained	-	NC_000009.12:g.16727918A>C	NCI-TCGA
NCI-TCGA novel	p.Asp72Tyr	missense variant	-	NC_000009.12:g.16727913C>A	NCI-TCGA
rs1009218937	p.Cys74Ser	missense variant	-	NC_000009.12:g.16727906C>G	TOPMed,gnomAD
rs1371420349	p.Thr75Ser	missense variant	-	NC_000009.12:g.16727903G>C	gnomAD
rs1488921825	p.Asp76Gly	missense variant	-	NC_000009.12:g.16727900T>C	TOPMed,gnomAD
rs757845982	p.Asn77Ser	missense variant	-	NC_000009.12:g.16727897T>C	ExAC,gnomAD
rs757845982	p.Asn77Thr	missense variant	-	NC_000009.12:g.16727897T>G	ExAC,gnomAD
rs1442582573	p.Ser78Pro	missense variant	-	NC_000009.12:g.16727895A>G	TOPMed
rs1489714132	p.Ser78Phe	missense variant	-	NC_000009.12:g.16727894G>A	gnomAD
rs765171685	p.Met79Leu	missense variant	-	NC_000009.12:g.16727892T>G	ExAC,gnomAD
rs1369284392	p.Met79Lys	missense variant	-	NC_000009.12:g.16727891A>T	TOPMed
rs765171685	p.Met79Val	missense variant	-	NC_000009.12:g.16727892T>C	ExAC,gnomAD
rs1469632544	p.Gln80Leu	missense variant	-	NC_000009.12:g.16727888T>A	TOPMed
rs1357786041	p.Gln80His	missense variant	-	NC_000009.12:g.16727887C>G	gnomAD
rs754849003	p.Phe81Leu	missense variant	-	NC_000009.12:g.16727884G>T	ExAC,gnomAD
rs753706030	p.Gly82Arg	missense variant	-	NC_000009.12:g.16727883C>T	ExAC,gnomAD
rs753706030	p.Gly82Arg	missense variant	-	NC_000009.12:g.16727883C>T	NCI-TCGA,NCI-TCGA Cosmic
rs766081839	p.Thr83Ser	missense variant	-	NC_000009.12:g.16727879G>C	ExAC,gnomAD
rs139095515	p.Arg84Gly	missense variant	-	NC_000009.12:g.16727877T>C	ESP,TOPMed,gnomAD
rs761033372	p.Arg84Thr	missense variant	-	NC_000009.12:g.16727876C>G	ExAC,gnomAD
NCI-TCGA novel	p.Thr85Met	missense variant	-	NC_000009.12:g.16727873G>A	NCI-TCGA
rs375140619	p.Thr86Ile	missense variant	-	NC_000009.12:g.16727870G>A	ESP,ExAC,TOPMed,gnomAD
rs375140619	p.Thr86Ser	missense variant	-	NC_000009.12:g.16727870G>C	ESP,ExAC,TOPMed,gnomAD
rs1324381392	p.Thr87Met	missense variant	-	NC_000009.12:g.16727867G>A	gnomAD
rs1324381392	p.Thr87Met	missense variant	-	NC_000009.12:g.16727867G>A	NCI-TCGA
NCI-TCGA novel	p.Glu89Lys	missense variant	-	NC_000009.12:g.16727862C>T	NCI-TCGA
rs1407317032	p.Pro90Thr	missense variant	-	NC_000009.12:g.16727859G>T	gnomAD
rs200096485	p.Gly91Ala	missense variant	-	NC_000009.12:g.16727855C>G	TOPMed,gnomAD
rs775024918	p.Gly94Glu	missense variant	-	NC_000009.12:g.16727846C>T	ExAC,TOPMed,gnomAD
rs775024918	p.Gly94Ala	missense variant	-	NC_000009.12:g.16727846C>G	ExAC,TOPMed,gnomAD
rs904959500	p.Ala99Gly	missense variant	-	NC_000009.12:g.16727831G>C	TOPMed,gnomAD
rs904959500	p.Ala99Val	missense variant	-	NC_000009.12:g.16727831G>A	TOPMed,gnomAD
rs1480278008	p.Asp100Asn	missense variant	-	NC_000009.12:g.16727829C>T	gnomAD
rs775993285	p.Thr101Ala	missense variant	-	NC_000009.12:g.16727826T>C	ExAC,gnomAD
rs770042915	p.Leu103Phe	missense variant	-	NC_000009.12:g.16727820G>A	ExAC,gnomAD
rs866081065	p.Phe105Ile	missense variant	-	NC_000009.12:g.16727814A>T	TOPMed,gnomAD
rs866081065	p.Phe105Leu	missense variant	-	NC_000009.12:g.16727814A>G	TOPMed,gnomAD
rs1270242765	p.Arg106Thr	missense variant	-	NC_000009.12:g.16727810C>G	gnomAD
rs1318506941	p.Met107Thr	missense variant	-	NC_000009.12:g.16727807A>G	gnomAD
rs746680237	p.Met107Val	missense variant	-	NC_000009.12:g.16727808T>C	ExAC,gnomAD
rs771602439	p.Gln109His	missense variant	-	NC_000009.12:g.16727800T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln110Leu	missense variant	-	NC_000009.12:g.16727798T>A	NCI-TCGA
rs754284081	p.Ala111Val	missense variant	-	NC_000009.12:g.16583084G>A	ExAC,gnomAD
rs754525859	p.Ala111Thr	missense variant	-	NC_000009.12:g.16583085C>T	TOPMed,gnomAD
rs754284081	p.Ala111Gly	missense variant	-	NC_000009.12:g.16583084G>C	ExAC,gnomAD
rs1362121192	p.Arg113Cys	missense variant	-	NC_000009.12:g.16583079G>A	TOPMed
rs1398184971	p.Arg113His	missense variant	-	NC_000009.12:g.16583078C>T	TOPMed,gnomAD
rs766731850	p.Thr115Ile	missense variant	-	NC_000009.12:g.16583072G>A	ExAC,gnomAD
rs760905584	p.Asn118Ser	missense variant	-	NC_000009.12:g.16583063T>C	ExAC,TOPMed,gnomAD
rs774070642	p.Thr120Ala	missense variant	-	NC_000009.12:g.16583058T>C	ExAC,gnomAD
rs1431272013	p.Thr120Ile	missense variant	-	NC_000009.12:g.16583057G>A	gnomAD
rs1245698892	p.Glu122Lys	missense variant	-	NC_000009.12:g.16583052C>T	TOPMed,gnomAD
rs1248045321	p.Gly127Val	missense variant	-	NC_000009.12:g.16583036C>A	gnomAD
rs769418207	p.Lys128Met	missense variant	-	NC_000009.12:g.16583033T>A	ExAC,gnomAD
rs769418207	p.Lys128Thr	missense variant	-	NC_000009.12:g.16583033T>G	ExAC,gnomAD
rs1197972512	p.Ile129Phe	missense variant	-	NC_000009.12:g.16583031T>A	TOPMed,gnomAD
rs1197972512	p.Ile129Val	missense variant	-	NC_000009.12:g.16583031T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Asn130Thr	missense variant	-	NC_000009.12:g.16583027T>G	NCI-TCGA
rs770792169	p.Asp135Gly	missense variant	-	NC_000009.12:g.16583012T>C	ExAC,gnomAD
rs1197152424	p.Gln136Glu	missense variant	-	NC_000009.12:g.16583010G>C	gnomAD
NCI-TCGA novel	p.Gln136Arg	missense variant	-	NC_000009.12:g.16583009T>C	NCI-TCGA
COSM4860535	p.Gln136Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.16583010G>A	NCI-TCGA Cosmic
rs888266422	p.Lys138Arg	missense variant	-	NC_000009.12:g.16583003T>C	TOPMed
rs777603869	p.Ala143Thr	missense variant	-	NC_000009.12:g.16582989C>T	ExAC,TOPMed,gnomAD
COSM3906364	p.His144Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16582985T>C	NCI-TCGA Cosmic
COSM3699624	p.Ala145Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16582983C>A	NCI-TCGA Cosmic
rs756649517	p.Leu146Ser	missense variant	-	NC_000009.12:g.16552762A>G	ExAC,gnomAD
rs931043410	p.Leu146Phe	missense variant	-	NC_000009.12:g.16552761C>A	TOPMed
NCI-TCGA novel	p.Asp147Tyr	missense variant	-	NC_000009.12:g.16552760C>A	NCI-TCGA
rs1237819121	p.Leu149Phe	missense variant	-	NC_000009.12:g.16552754G>A	TOPMed
rs781427509	p.Ser150Gly	missense variant	-	NC_000009.12:g.16552751T>C	ExAC,gnomAD
rs752429719	p.Thr151Met	missense variant	-	NC_000009.12:g.16552747G>A	ExAC,TOPMed,gnomAD
rs752429719	p.Thr151Met	missense variant	-	NC_000009.12:g.16552747G>A	NCI-TCGA,NCI-TCGA Cosmic
rs764934748	p.Gln152Arg	missense variant	-	NC_000009.12:g.16552744T>C	ExAC,gnomAD
rs1310620744	p.His153Gln	missense variant	-	NC_000009.12:g.16552740G>T	gnomAD
rs1318858649	p.His153Asn	missense variant	-	NC_000009.12:g.16552742G>T	gnomAD
rs144242525	p.Thr158Ile	missense variant	-	NC_000009.12:g.16552726G>A	ESP,ExAC,TOPMed,gnomAD
COSM6182982	p.Thr158Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16552726G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln159Arg	missense variant	-	NC_000009.12:g.16552723T>C	NCI-TCGA
NCI-TCGA novel	p.Gln159Ter	stop gained	-	NC_000009.12:g.16552724G>A	NCI-TCGA
rs1398613560	p.Gln159Glu	missense variant	-	NC_000009.12:g.16552724G>C	gnomAD
rs760540854	p.Ile162Val	missense variant	-	NC_000009.12:g.16552715T>C	ExAC,gnomAD
rs760540854	p.Ile162Val	missense variant	-	NC_000009.12:g.16552715T>C	NCI-TCGA
rs946979752	p.Asn166Ser	missense variant	-	NC_000009.12:g.16552702T>C	TOPMed,gnomAD
rs1346486985	p.Val167Ile	missense variant	-	NC_000009.12:g.16552700C>T	NCI-TCGA Cosmic
rs1162033481	p.Val167Ala	missense variant	-	NC_000009.12:g.16552699A>G	gnomAD
rs1346486985	p.Val167Ile	missense variant	-	NC_000009.12:g.16552700C>T	TOPMed,gnomAD
rs769900613	p.Val168Met	missense variant	-	NC_000009.12:g.16552697C>T	NCI-TCGA,NCI-TCGA Cosmic
rs769900613	p.Val168Met	missense variant	-	NC_000009.12:g.16552697C>T	-
rs1418399391	p.Ile171Val	missense variant	-	NC_000009.12:g.16552688T>C	gnomAD
rs912446447	p.Ser172Gly	missense variant	-	NC_000009.12:g.16552685T>C	TOPMed,gnomAD
rs1322401809	p.Thr179Ile	missense variant	-	NC_000009.12:g.16552663G>A	gnomAD
COSM6115236	p.Gln180Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16552660T>A	NCI-TCGA Cosmic
COSM4840820	p.Ala181Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16552658C>T	NCI-TCGA Cosmic
rs1217314388	p.Pro183Ser	missense variant	-	NC_000009.12:g.16552652G>A	gnomAD
COSM3656353	p.Pro183Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16552651G>A	NCI-TCGA Cosmic
rs147332643	p.Val184Gly	missense variant	-	NC_000009.12:g.16552648A>C	ESP
rs780058802	p.Val184Met	missense variant	-	NC_000009.12:g.16552649C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val184Ala	missense variant	-	NC_000009.12:g.16552648A>G	NCI-TCGA
rs780058802	p.Val184Met	missense variant	-	NC_000009.12:g.16552649C>T	NCI-TCGA
rs1383583504	p.Arg185Trp	missense variant	-	NC_000009.12:g.16552646G>A	gnomAD
rs1383583504	p.Arg185Trp	missense variant	-	NC_000009.12:g.16552646G>A	NCI-TCGA Cosmic
rs746370194	p.Arg185Gln	missense variant	-	NC_000009.12:g.16552645C>T	NCI-TCGA
rs746370194	p.Arg185Gln	missense variant	-	NC_000009.12:g.16552645C>T	ExAC,TOPMed,gnomAD
rs781698141	p.Leu186Val	missense variant	-	NC_000009.12:g.16552643G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ile188Val	missense variant	-	NC_000009.12:g.16552637T>C	NCI-TCGA
NCI-TCGA novel	p.Ile188Phe	missense variant	-	NC_000009.12:g.16552637T>A	NCI-TCGA
rs201643868	p.Leu189Met	missense variant	-	NC_000009.12:g.16552634G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201643868	p.Leu189Val	missense variant	-	NC_000009.12:g.16552634G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1400069723	p.Arg192His	missense variant	-	NC_000009.12:g.16552624C>T	gnomAD
rs148576849	p.Leu193Val	missense variant	-	NC_000009.12:g.16552622G>C	ESP,ExAC,TOPMed,gnomAD
rs1325251267	p.Phe194Leu	missense variant	-	NC_000009.12:g.16552617G>C	TOPMed
rs1010617431	p.Phe194Ile	missense variant	-	NC_000009.12:g.16552619A>T	TOPMed,gnomAD
rs1181349194	p.Val196Ile	missense variant	-	NC_000009.12:g.16552613C>T	TOPMed,gnomAD
rs1198124561	p.Lys198Glu	missense variant	-	NC_000009.12:g.16552607T>C	TOPMed
NCI-TCGA novel	p.Glu200Gln	missense variant	-	NC_000009.12:g.16552601C>G	NCI-TCGA
COSM1489876	p.Glu201Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16552598C>T	NCI-TCGA Cosmic
rs1265616963	p.Val202Leu	missense variant	-	NC_000009.12:g.16552595C>A	gnomAD
rs1265616963	p.Val202Ile	missense variant	-	NC_000009.12:g.16552595C>T	gnomAD
rs1265616963	p.Val202Leu	missense variant	-	NC_000009.12:g.16552595C>A	NCI-TCGA Cosmic
rs755609983	p.His204Leu	missense variant	-	NC_000009.12:g.16552588T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His204Tyr	missense variant	-	NC_000009.12:g.16552589G>A	NCI-TCGA
rs767536124	p.Ile205Val	missense variant	-	NC_000009.12:g.16552586T>C	ExAC,TOPMed,gnomAD
rs1229985665	p.Gly208Asp	missense variant	-	NC_000009.12:g.16552576C>T	gnomAD
rs763866782	p.Gly208Ser	missense variant	-	NC_000009.12:g.16552577C>T	ExAC,TOPMed,gnomAD
rs1229985665	p.Gly208Asp	missense variant	-	NC_000009.12:g.16552576C>T	NCI-TCGA
rs763866782	p.Gly208Ser	missense variant	-	NC_000009.12:g.16552577C>T	NCI-TCGA,NCI-TCGA Cosmic
rs555540395	p.Leu209Phe	missense variant	-	NC_000009.12:g.16552574G>A	gnomAD
NCI-TCGA novel	p.Gly210Asp	missense variant	-	NC_000009.12:g.16552570C>T	NCI-TCGA
rs1385852749	p.Gly210Arg	missense variant	-	NC_000009.12:g.16552571C>G	gnomAD
NCI-TCGA novel	p.Trp211Cys	missense variant	-	NC_000009.12:g.16552566C>A	NCI-TCGA
rs1040504644	p.Arg214Gln	missense variant	-	NC_000009.12:g.16552558C>T	TOPMed,gnomAD
rs1371140412	p.Arg214Trp	missense variant	-	NC_000009.12:g.16552559G>A	gnomAD
NCI-TCGA novel	p.Asp215Glu	missense variant	-	NC_000009.12:g.16552554G>C	NCI-TCGA
rs1286876952	p.Arg218Gln	missense variant	-	NC_000009.12:g.16552546C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gly219Val	missense variant	-	NC_000009.12:g.16552543C>A	NCI-TCGA
COSM1107512	p.Gly219Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.16552544C>A	NCI-TCGA Cosmic
rs1375701740	p.Ile221Val	missense variant	-	NC_000009.12:g.16552538T>C	TOPMed,gnomAD
rs1454841987	p.Leu222Val	missense variant	-	NC_000009.12:g.16552535G>C	gnomAD
rs751532939	p.Asp224Asn	missense variant	-	NC_000009.12:g.16437524C>T	ExAC,TOPMed,gnomAD
rs777641974	p.Ala225Val	missense variant	-	NC_000009.12:g.16437520G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala225Ser	missense variant	-	NC_000009.12:g.16437521C>A	NCI-TCGA
rs1456846165	p.Ala226Thr	missense variant	-	NC_000009.12:g.16437518C>T	gnomAD
rs1249141804	p.Gly227Ser	missense variant	-	NC_000009.12:g.16437515C>T	TOPMed
rs1368467597	p.Gly227Asp	missense variant	-	NC_000009.12:g.16437514C>T	gnomAD
rs1476420100	p.Lys228Arg	missense variant	-	NC_000009.12:g.16437511T>C	NCI-TCGA
NCI-TCGA novel	p.Lys228AsnPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.16437510_16437511insA	NCI-TCGA
rs1476420100	p.Lys228Arg	missense variant	-	NC_000009.12:g.16437511T>C	gnomAD
rs1191107098	p.Arg232Leu	missense variant	-	NC_000009.12:g.16437499C>A	gnomAD
rs1191107098	p.Arg232His	missense variant	-	NC_000009.12:g.16437499C>T	NCI-TCGA Cosmic
rs1261443116	p.Arg232Cys	missense variant	-	NC_000009.12:g.16437500G>A	TOPMed,gnomAD
rs1191107098	p.Arg232His	missense variant	-	NC_000009.12:g.16437499C>T	gnomAD
rs1261443116	p.Arg232Cys	missense variant	-	NC_000009.12:g.16437500G>A	NCI-TCGA
rs1474136340	p.Trp233Arg	missense variant	-	NC_000009.12:g.16437497A>G	gnomAD
NCI-TCGA novel	p.Trp233Ter	stop gained	-	NC_000009.12:g.16437496C>T	NCI-TCGA
NCI-TCGA novel	p.Trp233Arg	missense variant	-	NC_000009.12:g.16437497A>T	NCI-TCGA
rs1446018096	p.Ile235Thr	missense variant	-	NC_000009.12:g.16437490A>G	gnomAD
rs1206313947	p.Met236Leu	missense variant	-	NC_000009.12:g.16437488T>A	gnomAD
rs188643589	p.Arg238Pro	missense variant	-	NC_000009.12:g.16437481C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs188643589	p.Arg238Gln	missense variant	-	NC_000009.12:g.16437481C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs188643589	p.Arg238Pro	missense variant	-	NC_000009.12:g.16437481C>G	NCI-TCGA
rs759861328	p.Thr244Ile	missense variant	-	NC_000009.12:g.16437463G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu245Pro	missense variant	-	NC_000009.12:g.16437460A>G	NCI-TCGA
COSM422408	p.Gln246Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.16437458G>A	NCI-TCGA Cosmic
rs1169766092	p.Gln247Glu	missense variant	-	NC_000009.12:g.16437455G>C	TOPMed
rs766596466	p.Phe248Leu	missense variant	-	NC_000009.12:g.16437450A>C	ExAC,gnomAD
COSM3656347	p.Phe248Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16437451A>T	NCI-TCGA Cosmic
rs760787720	p.Leu249Arg	missense variant	-	NC_000009.12:g.16437448A>C	ExAC,gnomAD
COSM1107511	p.Leu249Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16437449G>T	NCI-TCGA Cosmic
rs1490299295	p.Arg250Gln	missense variant	-	NC_000009.12:g.16437445C>T	gnomAD
COSM3906357	p.Arg250Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16437446G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe251ProPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.16437443_16437444insTGGG	NCI-TCGA
NCI-TCGA novel	p.Gly252Arg	missense variant	-	NC_000009.12:g.16437440C>T	NCI-TCGA
rs371865335	p.Ser256Cys	missense variant	-	NC_000009.12:g.16437427G>C	ESP,ExAC,TOPMed,gnomAD
rs371865335	p.Ser256Phe	missense variant	-	NC_000009.12:g.16437427G>A	ESP,ExAC,TOPMed,gnomAD
rs762218331	p.Ile257Thr	missense variant	-	NC_000009.12:g.16437424A>G	ExAC,TOPMed,gnomAD
COSM3656344	p.Val258Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16437421A>C	NCI-TCGA Cosmic
rs774834108	p.Leu260Val	missense variant	-	NC_000009.12:g.16437416G>C	ExAC,gnomAD
rs768841601	p.Ile263Leu	missense variant	-	NC_000009.12:g.16437407T>G	ExAC,TOPMed,gnomAD
rs768841601	p.Ile263Val	missense variant	-	NC_000009.12:g.16437407T>C	ExAC,TOPMed,gnomAD
rs910163620	p.Ala270Thr	missense variant	-	NC_000009.12:g.16437386C>T	TOPMed
COSM6182986	p.Ala270Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16437386C>G	NCI-TCGA Cosmic
rs770455492	p.Val271Met	missense variant	-	NC_000009.12:g.16437383C>T	ExAC,gnomAD
rs746574309	p.Ala272Ser	missense variant	-	NC_000009.12:g.16437380C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala272Val	missense variant	-	NC_000009.12:g.16437379G>A	NCI-TCGA
rs1449421550	p.Val273Ile	missense variant	-	NC_000009.12:g.16437377C>T	TOPMed,gnomAD
rs758428402	p.Pro274Ser	missense variant	-	NC_000009.12:g.16437374G>A	ExAC,TOPMed,gnomAD
rs758428402	p.Pro274Thr	missense variant	-	NC_000009.12:g.16437374G>T	ExAC,TOPMed,gnomAD
rs1214276949	p.Ser275Phe	missense variant	-	NC_000009.12:g.16437370G>A	gnomAD
rs1336792156	p.Lys277Glu	missense variant	-	NC_000009.12:g.16437365T>C	gnomAD
rs367986409	p.Asp279Gly	missense variant	-	NC_000009.12:g.16437358T>C	ESP,ExAC,gnomAD
COSM1246171	p.Ser280Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16437356A>G	NCI-TCGA Cosmic
rs773379267	p.Asp281Gly	missense variant	-	NC_000009.12:g.16437352T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp281His	missense variant	-	NC_000009.12:g.16437353C>G	NCI-TCGA
COSM6115239	p.Ile282Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16437349A>T	NCI-TCGA Cosmic
rs770005462	p.Arg283Lys	missense variant	-	NC_000009.12:g.16437346C>T	gnomAD
rs1272200214	p.Thr284Ser	missense variant	-	NC_000009.12:g.16437343G>C	TOPMed,gnomAD
rs1272200214	p.Thr284Ile	missense variant	-	NC_000009.12:g.16437343G>A	NCI-TCGA
rs1272200214	p.Thr284Ile	missense variant	-	NC_000009.12:g.16437343G>A	TOPMed,gnomAD
rs1231298309	p.Phe285Cys	missense variant	-	NC_000009.12:g.16437340A>C	gnomAD
rs1326605584	p.Ile286Thr	missense variant	-	NC_000009.12:g.16437337A>G	gnomAD
NCI-TCGA novel	p.Ser288Thr	missense variant	-	NC_000009.12:g.16437331C>G	NCI-TCGA
rs1443771737	p.Ser288Gly	missense variant	-	NC_000009.12:g.16437332T>C	gnomAD
rs754134440	p.Asn289Ser	missense variant	-	NC_000009.12:g.16437328T>C	ExAC
rs1331253127	p.Arg291Cys	missense variant	-	NC_000009.12:g.16437323G>A	gnomAD
rs1331253127	p.Arg291Cys	missense variant	-	NC_000009.12:g.16437323G>A	NCI-TCGA
rs766756218	p.Ser296Arg	missense variant	-	NC_000009.12:g.16437306G>T	ExAC,TOPMed,gnomAD
rs760944883	p.Leu297Val	missense variant	-	NC_000009.12:g.16437305G>C	ExAC,gnomAD
rs767479416	p.Ala299Asp	missense variant	-	NC_000009.12:g.16437298G>T	ExAC
rs1393977124	p.Ala299Pro	missense variant	-	NC_000009.12:g.16437299C>G	gnomAD
COSM3848190	p.Ala299Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16437299C>T	NCI-TCGA Cosmic
rs774656700	p.His300Gln	missense variant	-	NC_000009.12:g.16437294G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His300Arg	missense variant	-	NC_000009.12:g.16437295T>C	NCI-TCGA
rs969850076	p.Asn303Ile	missense variant	-	NC_000009.12:g.16437286T>A	gnomAD
rs969850076	p.Asn303Ser	missense variant	-	NC_000009.12:g.16437286T>C	gnomAD
rs1438224964	p.Ser304Asn	missense variant	-	NC_000009.12:g.16437283C>T	gnomAD
rs1274809288	p.Ser304Arg	missense variant	-	NC_000009.12:g.16437282G>T	gnomAD
rs763181782	p.Asn305Ser	missense variant	-	NC_000009.12:g.16437280T>C	ExAC,TOPMed,gnomAD
rs114964332	p.Pro306Ser	missense variant	-	NC_000009.12:g.16437278G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000190272	p.Pro306Ala	missense variant	-	NC_000009.12:g.16437278G>C	ClinVar
rs114964332	p.Pro306Thr	missense variant	-	NC_000009.12:g.16437278G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs114964332	p.Pro306Ala	missense variant	-	NC_000009.12:g.16437278G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1236675695	p.Ser307Cys	missense variant	-	NC_000009.12:g.16437274G>C	gnomAD
rs770610963	p.Ser307Pro	missense variant	-	NC_000009.12:g.16437275A>G	ExAC,gnomAD
rs1421637344	p.Ser308Cys	missense variant	-	NC_000009.12:g.16437272T>A	TOPMed
rs1018438598	p.His310Arg	missense variant	-	NC_000009.12:g.16437265T>C	TOPMed,gnomAD
NCI-TCGA novel	p.His310Tyr	missense variant	-	NC_000009.12:g.16437266G>A	NCI-TCGA
rs1171274177	p.His311Pro	missense variant	-	NC_000009.12:g.16437262T>G	TOPMed
COSM3433037	p.Glu313Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16437257C>T	NCI-TCGA Cosmic
rs995244344	p.Ile315Phe	missense variant	-	NC_000009.12:g.16437251T>A	TOPMed,gnomAD
rs771427273	p.Pro316Ser	missense variant	-	NC_000009.12:g.16437248G>A	ExAC,gnomAD
rs771427273	p.Pro316Ser	missense variant	-	NC_000009.12:g.16437248G>A	NCI-TCGA
rs1406471202	p.Leu319Val	missense variant	-	NC_000009.12:g.16437239G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ala320Val	missense variant	-	NC_000009.12:g.16437235G>A	NCI-TCGA
COSM3656341	p.Pro324Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16437223G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe325Leu	missense variant	-	NC_000009.12:g.16437219G>T	NCI-TCGA
rs377056909	p.Ile328Met	missense variant	-	NC_000009.12:g.16437210T>C	ESP,ExAC,TOPMed,gnomAD
rs201353309	p.Ile328Val	missense variant	-	NC_000009.12:g.16437212T>C	ExAC,gnomAD
rs370167846	p.Ile328Thr	missense variant	-	NC_000009.12:g.16437211A>G	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Asn329Ile	missense variant	-	NC_000009.12:g.16437208T>A	NCI-TCGA
rs374455568	p.Pro330Leu	missense variant	-	NC_000009.12:g.16437205G>A	ESP,ExAC,TOPMed,gnomAD
rs756458931	p.Pro330Ala	missense variant	-	NC_000009.12:g.16437206G>C	ExAC,TOPMed,gnomAD
rs756458931	p.Pro330Thr	missense variant	-	NC_000009.12:g.16437206G>T	ExAC,TOPMed,gnomAD
COSM1461585	p.Pro330LeuPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.16437205G>-	NCI-TCGA Cosmic
COSM3906354	p.Leu338Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16437182A>C	NCI-TCGA Cosmic
rs1281382565	p.Pro339Ser	missense variant	-	NC_000009.12:g.16437179G>A	gnomAD
rs1351651525	p.Pro340Arg	missense variant	-	NC_000009.12:g.16437175G>C	gnomAD
rs1213259401	p.Pro340Ala	missense variant	-	NC_000009.12:g.16437176G>C	gnomAD
rs1351651525	p.Pro340Gln	missense variant	-	NC_000009.12:g.16437175G>T	gnomAD
rs1213446263	p.Asn341His	missense variant	-	NC_000009.12:g.16437173T>G	TOPMed
rs1167947550	p.Gly342Arg	missense variant	-	NC_000009.12:g.16437170C>G	TOPMed,gnomAD
rs376110117	p.Gly342Glu	missense variant	-	NC_000009.12:g.16437169C>T	ESP,ExAC,TOPMed,gnomAD
rs764561859	p.Leu343Val	missense variant	-	NC_000009.12:g.16437167G>C	ExAC,gnomAD
rs937371808	p.Leu344Met	missense variant	-	NC_000009.12:g.16437164G>T	TOPMed,gnomAD
rs1356483205	p.Glu346Asp	missense variant	-	NC_000009.12:g.16437156C>G	gnomAD
rs945575406	p.Glu346Gln	missense variant	-	NC_000009.12:g.16437158C>G	gnomAD
rs1436156781	p.Pro348Ala	missense variant	-	NC_000009.12:g.16437152G>C	gnomAD
rs1202135144	p.Pro348Arg	missense variant	-	NC_000009.12:g.16437151G>C	TOPMed,gnomAD
rs1436156781	p.Pro348Ser	missense variant	-	NC_000009.12:g.16437152G>A	gnomAD
rs760334910	p.Gly349Glu	missense variant	-	NC_000009.12:g.16437148C>T	ExAC,TOPMed,gnomAD
rs760334910	p.Gly349Ala	missense variant	-	NC_000009.12:g.16437148C>G	ExAC,TOPMed,gnomAD
rs760334910	p.Gly349Val	missense variant	-	NC_000009.12:g.16437148C>A	ExAC,TOPMed,gnomAD
rs772675068	p.Arg353Trp	missense variant	-	NC_000009.12:g.16437137G>A	ExAC,TOPMed,gnomAD
rs771633855	p.Arg353Gln	missense variant	-	NC_000009.12:g.16437136C>T	ExAC,TOPMed,gnomAD
rs772675068	p.Arg353Trp	missense variant	-	NC_000009.12:g.16437137G>A	NCI-TCGA,NCI-TCGA Cosmic
rs747659977	p.Glu354Lys	missense variant	-	NC_000009.12:g.16437134C>T	ExAC,gnomAD
rs1257927920	p.Pro355Arg	missense variant	-	NC_000009.12:g.16437130G>C	gnomAD
rs200506513	p.Pro355Thr	missense variant	-	NC_000009.12:g.16437131G>T	1000Genomes,ExAC,gnomAD
rs749220730	p.Leu357Val	missense variant	-	NC_000009.12:g.16437125G>C	ExAC,TOPMed,gnomAD
rs780004977	p.Ser358Leu	missense variant	-	NC_000009.12:g.16437121G>A	ExAC,gnomAD
rs755903868	p.Thr359Ser	missense variant	-	NC_000009.12:g.16437118G>C	ExAC,gnomAD
rs190971797	p.Gln360His	missense variant	-	NC_000009.12:g.16437114C>G	1000Genomes,ExAC,gnomAD
rs1318800775	p.Gln360Arg	missense variant	-	NC_000009.12:g.16437115T>C	gnomAD
rs781226354	p.Glu362Val	missense variant	-	NC_000009.12:g.16437109T>A	ExAC,gnomAD
rs988615488	p.Glu362Asp	missense variant	-	NC_000009.12:g.16437108T>G	TOPMed,gnomAD
COSM3906351	p.Tyr363Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16437107A>T	NCI-TCGA Cosmic
rs1287921241	p.Glu368Lys	missense variant	-	NC_000009.12:g.16437092C>T	gnomAD
rs1287921241	p.Glu368Lys	missense variant	-	NC_000009.12:g.16437092C>T	NCI-TCGA Cosmic
rs1439738029	p.Glu370Lys	missense variant	-	NC_000009.12:g.16437086C>T	gnomAD
rs753146632	p.Glu370Gly	missense variant	-	NC_000009.12:g.16437085T>C	ExAC,gnomAD
rs765592162	p.Pro373Ser	missense variant	-	NC_000009.12:g.16437077G>A	ExAC,gnomAD
rs1418336073	p.Pro373Leu	missense variant	-	NC_000009.12:g.16437076G>A	gnomAD
NCI-TCGA novel	p.Thr374Ala	missense variant	-	NC_000009.12:g.16437074T>C	NCI-TCGA
rs759844073	p.Pro375His	missense variant	-	NC_000009.12:g.16437070G>T	ExAC,TOPMed,gnomAD
rs777030729	p.Lys377Glu	missense variant	-	NC_000009.12:g.16437065T>C	ExAC,TOPMed,gnomAD
rs1293506461	p.Lys377Arg	missense variant	-	NC_000009.12:g.16437064T>C	TOPMed
rs777030729	p.Lys377Gln	missense variant	-	NC_000009.12:g.16437065T>G	ExAC,TOPMed,gnomAD
rs1187309419	p.Thr381Pro	missense variant	-	NC_000009.12:g.16437053T>G	gnomAD
rs761522806	p.Pro382Arg	missense variant	-	NC_000009.12:g.16437049G>C	NCI-TCGA,NCI-TCGA Cosmic
rs761522806	p.Pro382Arg	missense variant	-	NC_000009.12:g.16437049G>C	ExAC,gnomAD
rs145621565	p.Pro382Ala	missense variant	-	NC_000009.12:g.16437050G>C	ESP,ExAC,TOPMed,gnomAD
rs140889479	p.Asn383Ser	missense variant	-	NC_000009.12:g.16437046T>C	ESP,ExAC,TOPMed,gnomAD
rs150998148	p.Ala386Val	missense variant	-	NC_000009.12:g.16437037G>A	ESP,ExAC,TOPMed,gnomAD
rs769736710	p.Leu387Pro	missense variant	-	NC_000009.12:g.16437034A>G	ExAC,TOPMed,gnomAD
rs1214761030	p.Thr388Ser	missense variant	-	NC_000009.12:g.16437032T>A	gnomAD
NCI-TCGA novel	p.Thr391Asn	missense variant	-	NC_000009.12:g.16437022G>T	NCI-TCGA
COSM1107508	p.Thr391Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16437023T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn392Lys	missense variant	-	NC_000009.12:g.16437018A>C	NCI-TCGA
rs1322735478	p.Val393Leu	missense variant	-	NC_000009.12:g.16437017C>A	gnomAD
rs1190208945	p.Pro395Ala	missense variant	-	NC_000009.12:g.16437011G>C	TOPMed
rs771130480	p.Lys396Arg	missense variant	-	NC_000009.12:g.16437007T>C	ExAC,gnomAD
rs747242368	p.Thr397Pro	missense variant	-	NC_000009.12:g.16437005T>G	ExAC,gnomAD
rs1395039244	p.Thr397Ile	missense variant	-	NC_000009.12:g.16437004G>A	TOPMed,gnomAD
rs1281294007	p.Glu398Lys	missense variant	-	NC_000009.12:g.16437002C>T	gnomAD
rs1281294007	p.Glu398Lys	missense variant	-	NC_000009.12:g.16437002C>T	NCI-TCGA
rs758408200	p.Pro399Leu	missense variant	-	NC_000009.12:g.16436998G>A	ExAC,gnomAD
rs1225174173	p.Pro399Ser	missense variant	-	NC_000009.12:g.16436999G>A	gnomAD
rs1430473969	p.Cys401Tyr	missense variant	-	NC_000009.12:g.16436992C>T	gnomAD
rs753236453	p.Cys401Arg	missense variant	-	NC_000009.12:g.16436993A>G	ExAC,gnomAD
rs779443679	p.Val402Leu	missense variant	-	NC_000009.12:g.16436990C>G	ExAC,gnomAD
rs766749166	p.Pro404Arg	missense variant	-	NC_000009.12:g.16436983G>C	ExAC,gnomAD
rs754221911	p.Pro404Ser	missense variant	-	NC_000009.12:g.16436984G>A	ExAC,gnomAD
rs761382259	p.Ile405Thr	missense variant	-	NC_000009.12:g.16436980A>G	ExAC,gnomAD
rs950618735	p.Ile405Val	missense variant	-	NC_000009.12:g.16436981T>C	TOPMed,gnomAD
COSM3906348	p.Asn407Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436975T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser408Tyr	missense variant	-	NC_000009.12:g.16436971G>T	NCI-TCGA
rs143576449	p.Ala409Val	missense variant	-	NC_000009.12:g.16436968G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala409Thr	missense variant	-	NC_000009.12:g.16436969C>T	NCI-TCGA
rs868283716	p.Pro410Leu	missense variant	-	NC_000009.12:g.16436965G>A	TOPMed
rs763726219	p.Val411Phe	missense variant	-	NC_000009.12:g.16436963C>A	ExAC,gnomAD
rs762506868	p.Asp413Val	missense variant	-	NC_000009.12:g.16436956T>A	ExAC,gnomAD
rs976987970	p.Asp413His	missense variant	-	NC_000009.12:g.16436957C>G	TOPMed,gnomAD
rs976987970	p.Asp413Asn	missense variant	-	NC_000009.12:g.16436957C>T	TOPMed,gnomAD
rs148873573	p.Leu414Val	missense variant	-	NC_000009.12:g.16436954G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000190256	p.Leu414Val	missense variant	-	NC_000009.12:g.16436954G>C	ClinVar
NCI-TCGA novel	p.Thr415Ala	missense variant	-	NC_000009.12:g.16436951T>C	NCI-TCGA
rs144281264	p.Thr415Ile	missense variant	-	NC_000009.12:g.16436950G>A	ESP,ExAC,TOPMed,gnomAD
rs770702140	p.Lys416Glu	missense variant	-	NC_000009.12:g.16436948T>C	ExAC,TOPMed,gnomAD
rs1463728630	p.Thr417Ala	missense variant	-	NC_000009.12:g.16436945T>C	gnomAD
rs747202089	p.Thr417Ser	missense variant	-	NC_000009.12:g.16436944G>C	ExAC,TOPMed,gnomAD
rs772258371	p.Lys421Glu	missense variant	-	NC_000009.12:g.16436933T>C	ExAC,gnomAD
rs1180322693	p.Phe424Ile	missense variant	-	NC_000009.12:g.16436924A>T	gnomAD
rs1418950993	p.Phe424Leu	missense variant	-	NC_000009.12:g.16436922G>T	TOPMed,gnomAD
rs1418950993	p.Phe424Leu	missense variant	-	NC_000009.12:g.16436922G>C	TOPMed,gnomAD
rs373427796	p.Arg425Gly	missense variant	-	NC_000009.12:g.16436921G>C	ESP,ExAC,TOPMed,gnomAD
rs754309176	p.Arg425Gln	missense variant	-	NC_000009.12:g.16436920C>T	NCI-TCGA
rs754309176	p.Arg425Leu	missense variant	-	NC_000009.12:g.16436920C>A	ExAC,TOPMed,gnomAD
rs373427796	p.Arg425Trp	missense variant	-	NC_000009.12:g.16436921G>A	ESP,ExAC,TOPMed,gnomAD
rs754309176	p.Arg425Gln	missense variant	-	NC_000009.12:g.16436920C>T	ExAC,TOPMed,gnomAD
rs1031974425	p.His427Arg	missense variant	-	NC_000009.12:g.16436914T>C	TOPMed
rs756459154	p.Arg428Trp	missense variant	-	NC_000009.12:g.16436912G>A	ExAC,TOPMed,gnomAD
rs751190675	p.Arg428Gln	missense variant	-	NC_000009.12:g.16436911C>T	ExAC,TOPMed,gnomAD
rs756459154	p.Arg428Trp	missense variant	-	NC_000009.12:g.16436912G>A	NCI-TCGA,NCI-TCGA Cosmic
rs116000575	p.Met429Ile	missense variant	-	NC_000009.12:g.16436907C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs116000575	p.Met429Ile	missense variant	-	NC_000009.12:g.16436907C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1281782667	p.Arg430Gly	missense variant	-	NC_000009.12:g.16436906T>C	gnomAD
rs1236808792	p.Arg430Thr	missense variant	-	NC_000009.12:g.16436905C>G	gnomAD
rs1393763913	p.Arg431Thr	missense variant	-	NC_000009.12:g.16436902C>G	TOPMed
rs368914032	p.Met432Ile	missense variant	-	NC_000009.12:g.16436898C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met432Ile	missense variant	-	NC_000009.12:g.16436898C>T	NCI-TCGA
rs368914032	p.Met432Ile	missense variant	-	NC_000009.12:g.16436898C>A	ESP,ExAC,TOPMed,gnomAD
COSM1461580	p.Gly433Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436897C>T	NCI-TCGA Cosmic
rs1392982973	p.Ser434Pro	missense variant	-	NC_000009.12:g.16436894A>G	gnomAD
rs1395145353	p.Ala435Asp	missense variant	-	NC_000009.12:g.16436890G>T	TOPMed
rs1330455414	p.Arg437Lys	missense variant	-	NC_000009.12:g.16436884C>T	TOPMed
rs894943184	p.Lys438Glu	missense variant	-	NC_000009.12:g.16436882T>C	TOPMed
COSM3656338	p.Gly439Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436878C>T	NCI-TCGA Cosmic
rs759406212	p.Arg440Ter	stop gained	-	NC_000009.12:g.16436876T>A	ExAC
NCI-TCGA novel	p.Cys443Ser	missense variant	-	NC_000009.12:g.16436866C>G	NCI-TCGA
NCI-TCGA novel	p.Gly447Glu	missense variant	-	NC_000009.12:g.16436854C>T	NCI-TCGA
COSM5895986	p.Gly454Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436834C>T	NCI-TCGA Cosmic
COSM4831945	p.His459Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436819G>A	NCI-TCGA Cosmic
COSM3906345	p.Tyr460Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.16436814G>T	NCI-TCGA Cosmic
rs888454800	p.Ala462Gly	missense variant	-	NC_000009.12:g.16436809G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Lys466Asn	missense variant	-	NC_000009.12:g.16436796C>A	NCI-TCGA
rs1212933554	p.His469Tyr	missense variant	-	NC_000009.12:g.16436789G>A	TOPMed
rs774427355	p.Arg470Gly	missense variant	-	NC_000009.12:g.16436786G>C	ExAC,gnomAD
COSM4818214	p.Arg470Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436785C>G	NCI-TCGA Cosmic
COSM3656335	p.Arg470Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.16436786G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys471Phe	missense variant	-	NC_000009.12:g.16436782C>A	NCI-TCGA
rs375894546	p.Ile473Phe	missense variant	-	NC_000009.12:g.16436777T>A	ESP,ExAC,TOPMed,gnomAD
rs375894546	p.Ile473Val	missense variant	-	NC_000009.12:g.16436777T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys476Ter	stop gained	-	NC_000009.12:g.16436766G>T	NCI-TCGA
NCI-TCGA novel	p.Ser481Cys	missense variant	-	NC_000009.12:g.16436753T>A	NCI-TCGA
COSM1107507	p.Arg484Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.16436744G>A	NCI-TCGA Cosmic
COSM4392114	p.Arg484Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436743C>T	NCI-TCGA Cosmic
COSM1319618	p.Arg486His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436737C>T	NCI-TCGA Cosmic
COSM1107506	p.Arg488Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436732G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser490Ile	missense variant	-	NC_000009.12:g.16436725C>A	NCI-TCGA
NCI-TCGA novel	p.Ala491Gly	missense variant	-	NC_000009.12:g.16436722G>C	NCI-TCGA
rs530979241	p.Met499Ile	missense variant	-	NC_000009.12:g.16436697C>G	1000Genomes,ExAC,gnomAD
rs543653991	p.Met499Leu	missense variant	-	NC_000009.12:g.16436699T>A	1000Genomes,ExAC,gnomAD
rs752343912	p.Pro500Ser	missense variant	-	NC_000009.12:g.16436696G>A	ExAC,gnomAD
rs369931579	p.Met501Val	missense variant	-	NC_000009.12:g.16436693T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1474130756	p.Met501Thr	missense variant	-	NC_000009.12:g.16436692A>G	TOPMed
rs1474130756	p.Met501Thr	missense variant	-	NC_000009.12:g.16436692A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Met501IlePheSerTerUnk	frameshift	-	NC_000009.12:g.16436691_16436692insATAG	NCI-TCGA
rs760522381	p.Arg506Gln	missense variant	-	NC_000009.12:g.16436677C>T	ExAC,TOPMed,gnomAD
rs760522381	p.Arg506Leu	missense variant	-	NC_000009.12:g.16436677C>A	ExAC,TOPMed,gnomAD
COSM288187	p.Arg506Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.16436678G>A	NCI-TCGA Cosmic
rs935734633	p.Lys508Glu	missense variant	-	NC_000009.12:g.16436672T>C	gnomAD
NCI-TCGA novel	p.Asp509Glu	missense variant	-	NC_000009.12:g.16436667A>C	NCI-TCGA
rs767237156	p.Arg512Gln	missense variant	-	NC_000009.12:g.16436659C>T	ExAC,TOPMed,gnomAD
rs773045476	p.Arg512Trp	missense variant	-	NC_000009.12:g.16436660G>A	ExAC,TOPMed,gnomAD
rs773045476	p.Arg512Trp	missense variant	-	NC_000009.12:g.16436660G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1312658418	p.Ala513Val	missense variant	-	NC_000009.12:g.16436656G>A	gnomAD
rs1166022495	p.Thr514Ile	missense variant	-	NC_000009.12:g.16436653G>A	gnomAD
rs1190553238	p.Ala517Gly	missense variant	-	NC_000009.12:g.16436644G>C	TOPMed,gnomAD
rs1190553238	p.Ala517Val	missense variant	-	NC_000009.12:g.16436644G>A	TOPMed,gnomAD
rs377315626	p.Ala518Pro	missense variant	-	NC_000009.12:g.16436642C>G	ESP,TOPMed,gnomAD
rs1318800426	p.Ala518Val	missense variant	-	NC_000009.12:g.16436641G>A	TOPMed
rs1318800426	p.Ala518Val	missense variant	-	NC_000009.12:g.16436641G>A	NCI-TCGA
COSM3375203	p.Ala518Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436642C>T	NCI-TCGA Cosmic
rs1445959590	p.Thr519Ser	missense variant	-	NC_000009.12:g.16436638G>C	TOPMed,gnomAD
rs1210859066	p.Pro520Ser	missense variant	-	NC_000009.12:g.16436636G>A	TOPMed
rs1261607966	p.Ile522Val	missense variant	-	NC_000009.12:g.16436630T>C	TOPMed
rs1445809452	p.Ile522Thr	missense variant	-	NC_000009.12:g.16436629A>G	TOPMed
COSM6182989	p.Ala523Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436627C>T	NCI-TCGA Cosmic
rs1261762457	p.Thr525Ile	missense variant	-	NC_000009.12:g.16436620G>A	gnomAD
rs775403236	p.Lys526Arg	missense variant	-	NC_000009.12:g.16436617T>C	ExAC,gnomAD
rs749432606	p.Lys526Glu	missense variant	-	NC_000009.12:g.16436618T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu529Met	missense variant	-	NC_000009.12:g.16436609G>T	NCI-TCGA
rs770399663	p.Ala530Ser	missense variant	-	NC_000009.12:g.16436606C>A	ExAC,gnomAD
rs770399663	p.Ala530Thr	missense variant	-	NC_000009.12:g.16436606C>T	ExAC,gnomAD
rs879473402	p.Thr532Lys	missense variant	-	NC_000009.12:g.16436599G>T	TOPMed,gnomAD
rs879473402	p.Thr532Arg	missense variant	-	NC_000009.12:g.16436599G>C	TOPMed,gnomAD
rs376354558	p.Arg536Gln	missense variant	-	NC_000009.12:g.16436587C>T	ESP,ExAC,TOPMed,gnomAD
rs376354558	p.Arg536Leu	missense variant	-	NC_000009.12:g.16436587C>A	ESP,ExAC,TOPMed,gnomAD
rs376354558	p.Arg536Gln	missense variant	-	NC_000009.12:g.16436587C>T	NCI-TCGA,NCI-TCGA Cosmic
COSM3906342	p.Arg536Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.16436588G>A	NCI-TCGA Cosmic
rs1327126618	p.Pro537Ser	missense variant	-	NC_000009.12:g.16436585G>A	gnomAD
rs747837768	p.Met539Val	missense variant	-	NC_000009.12:g.16436579T>C	ExAC,TOPMed,gnomAD
rs966350992	p.Met539Arg	missense variant	-	NC_000009.12:g.16436578A>C	TOPMed
rs778582159	p.Gly540Asp	missense variant	-	NC_000009.12:g.16436575C>T	ExAC,gnomAD
rs372363444	p.Thr542Ala	missense variant	-	NC_000009.12:g.16436570T>C	ESP,ExAC,TOPMed,gnomAD
rs372363444	p.Thr542Ser	missense variant	-	NC_000009.12:g.16436570T>A	ESP,ExAC,TOPMed,gnomAD
rs1026119758	p.Thr542Ile	missense variant	-	NC_000009.12:g.16436569G>A	TOPMed
rs765789866	p.Thr543Ile	missense variant	-	NC_000009.12:g.16436566G>A	ExAC,gnomAD
rs1463393209	p.Thr543Ala	missense variant	-	NC_000009.12:g.16436567T>C	gnomAD
rs1165827230	p.Pro544Leu	missense variant	-	NC_000009.12:g.16436563G>A	gnomAD
rs368368580	p.Pro545Ser	missense variant	-	NC_000009.12:g.16436561G>A	1000Genomes,ESP,ExAC,gnomAD
NCI-TCGA novel	p.Pro545LeuPheSerTerUnk	frameshift	-	NC_000009.12:g.16436560G>-	NCI-TCGA
NCI-TCGA novel	p.Pro545His	missense variant	-	NC_000009.12:g.16436560G>T	NCI-TCGA
rs761546676	p.Pro545Arg	missense variant	-	NC_000009.12:g.16436560G>C	ExAC,gnomAD
rs368368580	p.Pro545Ala	missense variant	-	NC_000009.12:g.16436561G>C	1000Genomes,ESP,ExAC,gnomAD
rs1452027681	p.Leu546Val	missense variant	-	NC_000009.12:g.16436558G>C	gnomAD
rs1252362081	p.Leu546Pro	missense variant	-	NC_000009.12:g.16436557A>G	TOPMed,gnomAD
rs751332295	p.Pro548Arg	missense variant	-	NC_000009.12:g.16436551G>C	ExAC,gnomAD
rs1157375825	p.Pro548Ser	missense variant	-	NC_000009.12:g.16436552G>A	gnomAD
rs1245939843	p.Val549Ala	missense variant	-	NC_000009.12:g.16436548A>G	TOPMed
rs4961490	p.Leu550Val	missense variant	-	NC_000009.12:g.16436546A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763083458	p.Gln551His	missense variant	-	NC_000009.12:g.16436541T>G	ExAC,gnomAD
rs763083458	p.Gln551His	missense variant	-	NC_000009.12:g.16436541T>G	NCI-TCGA
rs775698887	p.Pro553Leu	missense variant	-	NC_000009.12:g.16436536G>A	ExAC,gnomAD
COSM3656332	p.Pro553Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436537G>A	NCI-TCGA Cosmic
rs1017712544	p.Leu554Pro	missense variant	-	NC_000009.12:g.16436533A>G	TOPMed,gnomAD
rs1017712544	p.Leu554His	missense variant	-	NC_000009.12:g.16436533A>T	TOPMed,gnomAD
rs769704765	p.Pro555Arg	missense variant	-	NC_000009.12:g.16436530G>C	ExAC,gnomAD
rs1287447161	p.Ser556Arg	missense variant	-	NC_000009.12:g.16436526G>C	TOPMed
rs745376862	p.Gln557Pro	missense variant	-	NC_000009.12:g.16436524T>G	TOPMed
rs888570705	p.Ser561Cys	missense variant	-	NC_000009.12:g.16436512G>C	TOPMed
rs1409010787	p.Gly562Arg	missense variant	-	NC_000009.12:g.16436510C>T	gnomAD
rs1396847050	p.Gly562Glu	missense variant	-	NC_000009.12:g.16436509C>T	gnomAD
rs1170080533	p.Lys564Arg	missense variant	-	NC_000009.12:g.16436503T>C	TOPMed,gnomAD
rs771448431	p.Val566Ile	missense variant	-	NC_000009.12:g.16436498C>T	ExAC,TOPMed,gnomAD
rs747429593	p.Gln567His	missense variant	-	NC_000009.12:g.16436493T>A	ExAC,gnomAD
rs777992590	p.Pro568Arg	missense variant	-	NC_000009.12:g.16436491G>C	ExAC,gnomAD
rs1478936341	p.Pro568Ser	missense variant	-	NC_000009.12:g.16436492G>A	TOPMed,gnomAD
rs1438172570	p.Val569Ile	missense variant	-	NC_000009.12:g.16436489C>T	gnomAD
NCI-TCGA novel	p.Pro570Leu	missense variant	-	NC_000009.12:g.16436485G>A	NCI-TCGA
rs201584429	p.Tyr573Cys	missense variant	-	NC_000009.12:g.16436476T>C	ExAC,gnomAD
NCI-TCGA novel	p.Tyr573Ter	stop gained	-	NC_000009.12:g.16436475A>C	NCI-TCGA
rs201584429	p.Tyr573Phe	missense variant	-	NC_000009.12:g.16436476T>A	ExAC,gnomAD
rs755581101	p.Arg574Lys	missense variant	-	NC_000009.12:g.16436473C>T	ExAC,gnomAD
COSM3375200	p.Arg574Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436474T>C	NCI-TCGA Cosmic
rs755581101	p.Arg574Thr	missense variant	-	NC_000009.12:g.16436473C>G	ExAC,gnomAD
rs1374823674	p.Ser575Arg	missense variant	-	NC_000009.12:g.16436471T>G	TOPMed
rs1374823674	p.Ser575Arg	missense variant	-	NC_000009.12:g.16436471T>G	NCI-TCGA Cosmic
COSM3906337	p.Ser575Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436470C>A	NCI-TCGA Cosmic
rs1434147342	p.Leu576Ser	missense variant	-	NC_000009.12:g.16436467A>G	TOPMed
rs750382458	p.Pro579Leu	missense variant	-	NC_000009.12:g.16436458G>A	ExAC,TOPMed,gnomAD
rs483353012	p.Gly580Trp	missense variant	-	NC_000009.12:g.16436456C>A	gnomAD
RCV000190259	p.Gly580Arg	missense variant	-	NC_000009.12:g.16436456C>T	ClinVar
rs483353012	p.Gly580Arg	missense variant	-	NC_000009.12:g.16436456C>T	gnomAD
rs1279480581	p.Glu581Gly	missense variant	-	NC_000009.12:g.16436452T>C	gnomAD
rs1443455127	p.Glu581Asp	missense variant	-	NC_000009.12:g.16436451T>G	gnomAD
COSM3656329	p.Glu581Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436453C>T	NCI-TCGA Cosmic
rs897119800	p.Met582Val	missense variant	-	NC_000009.12:g.16436450T>C	TOPMed,gnomAD
rs781155581	p.Val583Met	missense variant	-	NC_000009.12:g.16436447C>T	ExAC,gnomAD
rs781155581	p.Val583Leu	missense variant	-	NC_000009.12:g.16436447C>G	ExAC,gnomAD
rs1173643481	p.Pro586Leu	missense variant	-	NC_000009.12:g.16436437G>A	gnomAD
rs751439598	p.Pro586Ser	missense variant	-	NC_000009.12:g.16436438G>A	ExAC,gnomAD
rs141541187	p.Thr587Ala	missense variant	-	NC_000009.12:g.16436435T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1405776484	p.Thr587Ser	missense variant	-	NC_000009.12:g.16436434G>C	gnomAD
rs141541187	p.Thr587Ala	missense variant	-	NC_000009.12:g.16436435T>C	NCI-TCGA
rs1470415161	p.Ser588Cys	missense variant	-	NC_000009.12:g.16436431G>C	gnomAD
rs1306656977	p.Leu589Phe	missense variant	-	NC_000009.12:g.16436429G>A	TOPMed
COSM4858976	p.Thr591Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436422G>T	NCI-TCGA Cosmic
rs944250942	p.Pro593Arg	missense variant	-	NC_000009.12:g.16436416G>C	TOPMed
rs944250942	p.Pro593Leu	missense variant	-	NC_000009.12:g.16436416G>A	TOPMed
NCI-TCGA novel	p.Ile594Thr	missense variant	-	NC_000009.12:g.16436413A>G	NCI-TCGA
rs1258317874	p.Pro596Ser	missense variant	-	NC_000009.12:g.16436408G>A	gnomAD
rs1347827109	p.Thr597Ile	missense variant	-	NC_000009.12:g.16436404G>A	TOPMed
rs1212412536	p.Ser598Arg	missense variant	-	NC_000009.12:g.16436400A>T	gnomAD
rs911404474	p.Gly599Ala	missense variant	-	NC_000009.12:g.16436398C>G	TOPMed
rs1315184972	p.Gly599Ser	missense variant	-	NC_000009.12:g.16436399C>T	gnomAD
rs148257304	p.Ile601Val	missense variant	-	NC_000009.12:g.16436393T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs367562679	p.Ile601Thr	missense variant	-	NC_000009.12:g.16436392A>G	ESP,ExAC,TOPMed,gnomAD
rs1194867325	p.Glu602Gly	missense variant	-	NC_000009.12:g.16436389T>C	TOPMed
rs936836401	p.His604Gln	missense variant	-	NC_000009.12:g.16436382G>C	TOPMed,gnomAD
rs1231082021	p.Pro605Ala	missense variant	-	NC_000009.12:g.16436381G>C	gnomAD
rs116528562	p.Pro606Leu	missense variant	-	NC_000009.12:g.16436377G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1354503587	p.Pro606Ser	missense variant	-	NC_000009.12:g.16436378G>A	TOPMed,gnomAD
COSM1461579	p.Pro606ArgPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.16436377G>-	NCI-TCGA Cosmic
COSM4665904	p.Pro607AlaPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.16436376_16436377insG	NCI-TCGA Cosmic
rs1317600547	p.Ala615Thr	missense variant	-	NC_000009.12:g.16436351C>T	gnomAD
rs1360975611	p.Met617Val	missense variant	-	NC_000009.12:g.16436345T>C	TOPMed
NCI-TCGA novel	p.Met617Ile	missense variant	-	NC_000009.12:g.16436343C>A	NCI-TCGA
rs773636277	p.Met617Ile	missense variant	-	NC_000009.12:g.16436343C>T	ExAC,TOPMed,gnomAD
rs772254961	p.Met618Ile	missense variant	-	NC_000009.12:g.16436340C>T	ExAC,gnomAD
NCI-TCGA novel	p.Met618Lys	missense variant	-	NC_000009.12:g.16436341A>T	NCI-TCGA
rs1396038182	p.Ala619Val	missense variant	-	NC_000009.12:g.16436338G>A	gnomAD
rs748997655	p.Thr620Ile	missense variant	-	NC_000009.12:g.16436335G>A	ExAC,gnomAD
rs1484956889	p.His621Arg	missense variant	-	NC_000009.12:g.16436332T>C	gnomAD
NCI-TCGA novel	p.His621Leu	missense variant	-	NC_000009.12:g.16436332T>A	NCI-TCGA
rs779522917	p.His621Tyr	missense variant	-	NC_000009.12:g.16436333G>A	ExAC,gnomAD
rs1361946699	p.Glu622Gln	missense variant	-	NC_000009.12:g.16436330C>G	gnomAD
rs374346024	p.Glu622Gly	missense variant	-	NC_000009.12:g.16436329T>C	ESP,ExAC,gnomAD
rs1217159961	p.Pro623Ala	missense variant	-	NC_000009.12:g.16436327G>C	gnomAD
rs1217159961	p.Pro623Ala	missense variant	-	NC_000009.12:g.16436327G>C	NCI-TCGA
rs114596065	p.Pro623His	missense variant	-	NC_000009.12:g.16436326G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000202740	p.Pro623His	missense variant	-	NC_000009.12:g.16436326G>T	ClinVar
COSM1107505	p.Pro623Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436327G>A	NCI-TCGA Cosmic
rs780677421	p.Ser624Asn	missense variant	-	NC_000009.12:g.16436323C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser624MetPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.16436323C>-	NCI-TCGA
rs780677421	p.Ser624Thr	missense variant	-	NC_000009.12:g.16436323C>G	ExAC,TOPMed,gnomAD
rs966384737	p.Ala625Asp	missense variant	-	NC_000009.12:g.16436320G>T	TOPMed
rs757244735	p.Ala625Thr	missense variant	-	NC_000009.12:g.16436321C>T	ExAC,gnomAD
rs1163290198	p.Asp626Gly	missense variant	-	NC_000009.12:g.16436317T>C	gnomAD
rs1312246543	p.Ala628Thr	missense variant	-	NC_000009.12:g.16436312C>T	TOPMed
NCI-TCGA novel	p.Lys630Met	missense variant	-	NC_000009.12:g.16436305T>A	NCI-TCGA
COSM1461578	p.Lys630Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436304C>A	NCI-TCGA Cosmic
rs370281658	p.Pro633Ser	missense variant	-	NC_000009.12:g.16436297G>A	ESP,gnomAD
NCI-TCGA novel	p.Pro633AlaPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.16436298_16436299insT	NCI-TCGA
rs1359284527	p.Ser636Thr	missense variant	-	NC_000009.12:g.16436288A>T	gnomAD
rs758092172	p.Met638Leu	missense variant	-	NC_000009.12:g.16436282T>A	ExAC,TOPMed,gnomAD
COSM3656325	p.Pro639Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436279G>A	NCI-TCGA Cosmic
rs752988917	p.Lys641Arg	missense variant	-	NC_000009.12:g.16436272T>C	ExAC,TOPMed
rs1390825147	p.Glu643Gln	missense variant	-	NC_000009.12:g.16436267C>G	gnomAD
rs1165658276	p.Lys644Thr	missense variant	-	NC_000009.12:g.16436263T>G	TOPMed,gnomAD
rs1467033248	p.Glu645Gly	missense variant	-	NC_000009.12:g.16436260T>C	TOPMed
rs754026235	p.Ile647Thr	missense variant	-	NC_000009.12:g.16436254A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile647Asn	missense variant	-	NC_000009.12:g.16436254A>T	NCI-TCGA
rs1426911448	p.Thr649Ser	missense variant	-	NC_000009.12:g.16436248G>C	gnomAD
rs138108118	p.Ala650Thr	missense variant	-	NC_000009.12:g.16436246C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138108118	p.Ala650Thr	missense variant	-	NC_000009.12:g.16436246C>T	NCI-TCGA
COSM1107504	p.Ala650Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436245G>A	NCI-TCGA Cosmic
rs767945913	p.Asp651Asn	missense variant	-	NC_000009.12:g.16436243C>T	ExAC,TOPMed,gnomAD
rs767945913	p.Asp651Asn	missense variant	-	NC_000009.12:g.16436243C>T	NCI-TCGA
rs1213581166	p.Asp651Ala	missense variant	-	NC_000009.12:g.16436242T>G	gnomAD
rs1467393049	p.Glu652Asp	missense variant	-	NC_000009.12:g.16436238C>A	TOPMed
rs1263660491	p.Asp655Asn	missense variant	-	NC_000009.12:g.16436231C>T	gnomAD
NCI-TCGA novel	p.Glu656Asp	missense variant	-	NC_000009.12:g.16436226T>G	NCI-TCGA
rs368601490	p.Glu656Gly	missense variant	-	NC_000009.12:g.16436227T>C	ESP,TOPMed
COSM4846474	p.Glu656Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436228C>T	NCI-TCGA Cosmic
rs774745887	p.Asp658Val	missense variant	-	NC_000009.12:g.16436221T>A	ExAC,TOPMed,gnomAD
rs774745887	p.Asp658Gly	missense variant	-	NC_000009.12:g.16436221T>C	ExAC,TOPMed,gnomAD
rs150371741	p.Asp658His	missense variant	-	NC_000009.12:g.16436222C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM455713	p.Asp658Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436222C>T	NCI-TCGA Cosmic
rs1305338756	p.Asp659Gly	missense variant	-	NC_000009.12:g.16436218T>C	gnomAD
rs769500814	p.Pro660Ser	missense variant	-	NC_000009.12:g.16436216G>A	ExAC,gnomAD
rs1228569705	p.Pro660Arg	missense variant	-	NC_000009.12:g.16436215G>C	gnomAD
COSM6115248	p.Pro660Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436216G>T	NCI-TCGA Cosmic
rs1440026546	p.Asn661Ile	missense variant	-	NC_000009.12:g.16436212T>A	TOPMed,gnomAD
rs776133807	p.Asn661Asp	missense variant	-	NC_000009.12:g.16436213T>C	ExAC,gnomAD
rs1440026546	p.Asn661Ser	missense variant	-	NC_000009.12:g.16436212T>C	TOPMed,gnomAD
rs374603135	p.Gly663Asp	missense variant	-	NC_000009.12:g.16436206C>T	ESP
rs770361843	p.Gly664Val	missense variant	-	NC_000009.12:g.16436203C>A	ExAC,gnomAD
rs746999145	p.Ala665Val	missense variant	-	NC_000009.12:g.16436200G>A	ExAC,gnomAD
rs138848086	p.Val667Ile	missense variant	-	NC_000009.12:g.16436195C>T	ESP,ExAC,TOPMed,gnomAD
rs141312504	p.Asn668Ser	missense variant	-	NC_000009.12:g.16436191T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778850296	p.Asp669Tyr	missense variant	-	NC_000009.12:g.16436189C>A	ExAC,TOPMed,gnomAD
rs778850296	p.Asp669Asn	missense variant	-	NC_000009.12:g.16436189C>T	ExAC,TOPMed,gnomAD
rs755261556	p.Asp669Glu	missense variant	-	NC_000009.12:g.16436187G>C	ExAC,TOPMed,gnomAD
rs1393308111	p.Met670Thr	missense variant	-	NC_000009.12:g.16436185A>G	gnomAD
rs1215389123	p.Met670Leu	missense variant	-	NC_000009.12:g.16436186T>G	TOPMed
rs754044392	p.Ser671Asn	missense variant	-	NC_000009.12:g.16436182C>T	ExAC,TOPMed,gnomAD
rs910634492	p.His672Arg	missense variant	-	NC_000009.12:g.16436179T>C	gnomAD
rs756094132	p.Asn674Ile	missense variant	-	NC_000009.12:g.16436173T>A	ExAC,gnomAD
rs756094132	p.Asn674Ser	missense variant	-	NC_000009.12:g.16436173T>C	ExAC,gnomAD
rs756094132	p.Asn674Thr	missense variant	-	NC_000009.12:g.16436173T>G	ExAC,gnomAD
rs1175913164	p.Cys676Phe	missense variant	-	NC_000009.12:g.16436167C>A	gnomAD
NCI-TCGA novel	p.Glu680Ter	stop gained	-	NC_000009.12:g.16436156C>A	NCI-TCGA
NCI-TCGA novel	p.Glu680Lys	missense variant	-	NC_000009.12:g.16436156C>T	NCI-TCGA
rs1205386686	p.Glu681Ter	stop gained	-	NC_000009.12:g.16436153C>A	gnomAD
rs774757602	p.Met682Val	missense variant	-	NC_000009.12:g.16436150T>C	ExAC,gnomAD
rs774757602	p.Met682Leu	missense variant	-	NC_000009.12:g.16436150T>A	ExAC,gnomAD
rs543567537	p.Ser683Arg	missense variant	-	NC_000009.12:g.16436145G>C	gnomAD
rs138187836	p.Pro684Leu	missense variant	-	NC_000009.12:g.16436143G>A	1000Genomes,ExAC,gnomAD
RCV000190262	p.Pro684Leu	missense variant	-	NC_000009.12:g.16436143G>A	ClinVar
NCI-TCGA novel	p.Gly685Val	missense variant	-	NC_000009.12:g.16436140C>A	NCI-TCGA
rs1312633813	p.Met686Leu	missense variant	-	NC_000009.12:g.16436138T>G	gnomAD
rs759193154	p.Met686Thr	missense variant	-	NC_000009.12:g.16436137A>G	ExAC,gnomAD
rs1389509644	p.Ser687Phe	missense variant	-	NC_000009.12:g.16436134G>A	gnomAD
COSM1107503	p.Ser687Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436134G>T	NCI-TCGA Cosmic
rs145916043	p.Asp690Glu	missense variant	-	NC_000009.12:g.16436124G>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM3906333	p.Phe691Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436123A>G	NCI-TCGA Cosmic
rs746554158	p.His694Tyr	missense variant	-	NC_000009.12:g.16436114G>A	ExAC,gnomAD
rs772749729	p.His694Leu	missense variant	-	NC_000009.12:g.16436113T>A	ExAC,TOPMed,gnomAD
rs142074144	p.Arg696Ser	missense variant	-	NC_000009.12:g.16436106C>A	ESP,ExAC,TOPMed,gnomAD
rs548745485	p.Arg698Gln	missense variant	-	NC_000009.12:g.16436101C>T	NCI-TCGA,NCI-TCGA Cosmic
rs548745485	p.Arg698Gln	missense variant	-	NC_000009.12:g.16436101C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs563758282	p.Arg698Trp	missense variant	-	NC_000009.12:g.16436102G>A	1000Genomes,ExAC,gnomAD
rs780471485	p.Cys699Tyr	missense variant	-	NC_000009.12:g.16436098C>T	ExAC,gnomAD
rs200810383	p.Ile700Leu	missense variant	-	NC_000009.12:g.16436096T>G	ExAC,gnomAD
rs1008222401	p.Arg702Lys	missense variant	-	NC_000009.12:g.16436089C>T	TOPMed,gnomAD
rs1483798655	p.Thr703Ala	missense variant	-	NC_000009.12:g.16436087T>C	TOPMed,gnomAD
rs1199446060	p.Glu704Asp	missense variant	-	NC_000009.12:g.16436082T>G	gnomAD
rs750532979	p.Glu704Gly	missense variant	-	NC_000009.12:g.16436083T>C	ExAC,gnomAD
rs781317873	p.Arg706Gly	missense variant	-	NC_000009.12:g.16436078T>C	ExAC,gnomAD
rs1257731791	p.Arg706Ser	missense variant	-	NC_000009.12:g.16436076C>A	gnomAD
rs372768243	p.Arg707Lys	missense variant	-	NC_000009.12:g.16436074C>T	ESP,ExAC,TOPMed,gnomAD
rs530094980	p.Ala708Thr	missense variant	-	NC_000009.12:g.16436072C>T	1000Genomes,ExAC,gnomAD
rs890056375	p.Asp709Asn	missense variant	-	NC_000009.12:g.16436069C>T	TOPMed,gnomAD
rs1400145004	p.Asp709Gly	missense variant	-	NC_000009.12:g.16436068T>C	TOPMed
rs1292272828	p.Met711Leu	missense variant	-	NC_000009.12:g.16436063T>A	TOPMed
rs1010000491	p.Thr712Ser	missense variant	-	NC_000009.12:g.16436060T>A	TOPMed,gnomAD
rs1229779742	p.Asp715His	missense variant	-	NC_000009.12:g.16436051C>G	TOPMed
rs1316201793	p.Glu717Gly	missense variant	-	NC_000009.12:g.16436044T>C	TOPMed
COSM1107502	p.Glu717Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.16436045C>A	NCI-TCGA Cosmic
COSM3906329	p.Glu717Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436045C>T	NCI-TCGA Cosmic
rs753040555	p.Pro718Arg	missense variant	-	NC_000009.12:g.16436041G>C	ExAC,TOPMed,gnomAD
rs1396721491	p.Glu719Gly	missense variant	-	NC_000009.12:g.16436038T>C	gnomAD
rs751961896	p.Arg720Trp	missense variant	-	NC_000009.12:g.16436036G>A	TOPMed
rs751961896	p.Arg720Trp	missense variant	-	NC_000009.12:g.16436036G>A	NCI-TCGA,NCI-TCGA Cosmic
rs147575972	p.Arg720Gln	missense variant	-	NC_000009.12:g.16436035C>T	ESP,ExAC,TOPMed,gnomAD
rs181340855	p.Asp721Glu	missense variant	-	NC_000009.12:g.16436031G>C	1000Genomes,ExAC,gnomAD
rs1453613289	p.Tyr722Cys	missense variant	-	NC_000009.12:g.16436029T>C	TOPMed,gnomAD
rs1257022477	p.Asn724Tyr	missense variant	-	NC_000009.12:g.16436024T>A	TOPMed
rs142534651	p.Glu725Lys	missense variant	-	NC_000009.12:g.16436021C>T	ESP,ExAC,TOPMed,gnomAD
rs761871271	p.Glu725Asp	missense variant	-	NC_000009.12:g.16436019C>A	ExAC,gnomAD
rs1414988476	p.Ser726Phe	missense variant	-	NC_000009.12:g.16436017G>A	TOPMed
NCI-TCGA novel	p.Glu727Gln	missense variant	-	NC_000009.12:g.16436015C>G	NCI-TCGA
NCI-TCGA novel	p.Glu727Val	missense variant	-	NC_000009.12:g.16436014T>A	NCI-TCGA
COSM3906322	p.Glu727Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436014T>C	NCI-TCGA Cosmic
rs565251984	p.Ser729Leu	missense variant	-	NC_000009.12:g.16436008G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs565251984	p.Ser729Leu	missense variant	-	NC_000009.12:g.16436008G>A	NCI-TCGA,NCI-TCGA Cosmic
rs749135029	p.Glu730Asp	missense variant	-	NC_000009.12:g.16436004C>G	ExAC,TOPMed,gnomAD
rs779990518	p.Lys732Arg	missense variant	-	NC_000009.12:g.16435999T>C	ExAC,TOPMed,gnomAD
rs779990518	p.Lys732Ile	missense variant	-	NC_000009.12:g.16435999T>A	ExAC,TOPMed,gnomAD
COSM3375196	p.Gly734Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16435994C>A	NCI-TCGA Cosmic
rs945086064	p.Glu735Lys	missense variant	-	NC_000009.12:g.16435991C>T	TOPMed,gnomAD
rs945086064	p.Glu735Lys	missense variant	-	NC_000009.12:g.16435991C>T	NCI-TCGA
NCI-TCGA novel	p.Glu735Ter	stop gained	-	NC_000009.12:g.16435991C>A	NCI-TCGA
rs1449779715	p.Glu736Lys	missense variant	-	NC_000009.12:g.16435988C>T	TOPMed
NCI-TCGA novel	p.Ser737Phe	missense variant	-	NC_000009.12:g.16435984G>A	NCI-TCGA
NCI-TCGA novel	p.Ser737Cys	missense variant	-	NC_000009.12:g.16435984G>C	NCI-TCGA
rs200487882	p.Met738Val	missense variant	-	NC_000009.12:g.16435982T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757321212	p.Gly740Glu	missense variant	-	NC_000009.12:g.16435975C>T	ExAC,gnomAD
rs1221908740	p.Gly740Trp	missense variant	-	NC_000009.12:g.16435976C>A	TOPMed
rs554243088	p.Asp741Asn	missense variant	-	NC_000009.12:g.16435973C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1245740622	p.Asp741Glu	missense variant	-	NC_000009.12:g.16435971A>C	TOPMed,gnomAD
rs1342364040	p.His743Asn	missense variant	-	NC_000009.12:g.16435967G>T	gnomAD
rs992273013	p.His743Leu	missense variant	-	NC_000009.12:g.16435966T>A	TOPMed,gnomAD
rs992273013	p.His743Arg	missense variant	-	NC_000009.12:g.16435966T>C	TOPMed,gnomAD
rs1382161679	p.Ile744Thr	missense variant	-	NC_000009.12:g.16435963A>G	gnomAD
rs1390104334	p.His745Asp	missense variant	-	NC_000009.12:g.16435961G>C	gnomAD
rs186911225	p.Ser746Arg	missense variant	-	NC_000009.12:g.16435956G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs535983413	p.Glu747Lys	missense variant	-	NC_000009.12:g.16435955C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs535983413	p.Glu747Lys	missense variant	-	NC_000009.12:g.16435955C>T	NCI-TCGA
NCI-TCGA novel	p.Val748Ala	missense variant	-	NC_000009.12:g.16435951A>G	NCI-TCGA
rs376503664	p.Ser749Ile	missense variant	-	NC_000009.12:g.16435948C>A	ESP,ExAC,TOPMed,gnomAD
COSM3906318	p.Ser749Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16435948C>T	NCI-TCGA Cosmic
rs1480500104	p.Glu750Gly	missense variant	-	NC_000009.12:g.16435945T>C	TOPMed
rs750050233	p.Val752Gly	missense variant	-	NC_000009.12:g.16435939A>C	ExAC,gnomAD
rs1056762405	p.Val752Ile	missense variant	-	NC_000009.12:g.16435940C>T	TOPMed
rs766954279	p.Leu753Pro	missense variant	-	NC_000009.12:g.16435936A>G	ExAC,gnomAD
rs761454777	p.Met754Ile	missense variant	-	NC_000009.12:g.16435932C>T	ExAC,gnomAD
rs768780539	p.Asn755Lys	missense variant	-	NC_000009.12:g.16435929A>C	ExAC,TOPMed,gnomAD
rs773966394	p.Asn755Thr	missense variant	-	NC_000009.12:g.16435930T>G	ExAC,TOPMed,gnomAD
rs762968980	p.Ser756Asn	missense variant	-	NC_000009.12:g.16435927C>T	ExAC,gnomAD
rs775161242	p.Arg758Lys	missense variant	-	NC_000009.12:g.16435921C>T	ExAC,TOPMed,gnomAD
rs1210673164	p.Pro759Ser	missense variant	-	NC_000009.12:g.16435919G>A	TOPMed,gnomAD
rs769566701	p.Asp760Val	missense variant	-	NC_000009.12:g.16435915T>A	ExAC,TOPMed,gnomAD
rs572117506	p.Glu761Asp	missense variant	-	NC_000009.12:g.16435911C>G	1000Genomes,gnomAD
rs771036938	p.Ser764Asn	missense variant	-	NC_000009.12:g.16435903C>T	ExAC,gnomAD
rs199800113	p.Ser764Gly	missense variant	-	NC_000009.12:g.16435904T>C	ExAC,TOPMed,gnomAD
rs553443108	p.Glu765Asp	missense variant	-	NC_000009.12:g.16435899C>G	1000Genomes,ExAC,gnomAD
rs777830057	p.Pro766Ser	missense variant	-	NC_000009.12:g.16435898G>A	ExAC,TOPMed,gnomAD
rs1233483802	p.His768Tyr	missense variant	-	NC_000009.12:g.16435892G>A	TOPMed
rs148819981	p.His768Gln	missense variant	-	NC_000009.12:g.16435890G>T	ESP,ExAC,TOPMed,gnomAD
rs538653615	p.Gln769Glu	missense variant	-	NC_000009.12:g.16435889G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs538653615	p.Gln769Lys	missense variant	-	NC_000009.12:g.16435889G>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln769Leu	missense variant	-	NC_000009.12:g.16435888T>A	NCI-TCGA
rs754125807	p.Val771Ile	missense variant	-	NC_000009.12:g.16435883C>T	ExAC,TOPMed,gnomAD
rs767235881	p.Ile772Met	missense variant	-	NC_000009.12:g.16435878G>C	ExAC,gnomAD
rs756965590	p.Lys773Asn	missense variant	-	NC_000009.12:g.16435875C>A	ExAC,TOPMed,gnomAD
rs571419639	p.Glu776Gly	missense variant	-	NC_000009.12:g.16435867T>C	1000Genomes,ExAC,gnomAD
COSM422409	p.Glu776Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.16435868C>A	NCI-TCGA Cosmic
rs763638464	p.Glu777Ala	missense variant	-	NC_000009.12:g.16435864T>G	ExAC,gnomAD
rs775459888	p.Thr779Ala	missense variant	-	NC_000009.12:g.16435859T>C	ExAC,TOPMed,gnomAD
rs764964039	p.Thr779Ile	missense variant	-	NC_000009.12:g.16435858G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp780Tyr	missense variant	-	NC_000009.12:g.16435856C>A	NCI-TCGA
rs776262248	p.Pro781Ser	missense variant	-	NC_000009.12:g.16435853G>A	ExAC,gnomAD
rs1245531903	p.Thr782Ile	missense variant	-	NC_000009.12:g.16435849G>A	TOPMed
rs3739714	p.Thr782Ala	missense variant	-	NC_000009.12:g.16435850T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs3739714	p.Thr782Ala	missense variant	-	NC_000009.12:g.16435850T>C	UniProt,dbSNP
VAR_033543	p.Thr782Ala	missense variant	-	NC_000009.12:g.16435850T>C	UniProt
rs772096905	p.Asp784Val	missense variant	-	NC_000009.12:g.16435843T>A	ExAC
rs181797373	p.Asp784Asn	missense variant	-	NC_000009.12:g.16435844C>T	1000Genomes,ExAC,gnomAD
rs367993561	p.Met785Thr	missense variant	-	NC_000009.12:g.16435840A>G	ESP,ExAC,TOPMed,gnomAD
rs776963457	p.Met785Leu	missense variant	-	NC_000009.12:g.16435841T>A	ExAC,TOPMed,gnomAD
rs756982051	p.Met788Val	missense variant	-	NC_000009.12:g.16435832T>C	ExAC,TOPMed,gnomAD
rs756982051	p.Met788Leu	missense variant	-	NC_000009.12:g.16435832T>G	ExAC,TOPMed,gnomAD
COSM1107500	p.Ser789Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16435828C>A	NCI-TCGA Cosmic
rs1439973322	p.Gln790Arg	missense variant	-	NC_000009.12:g.16435825T>C	TOPMed
rs1400757804	p.Gln790Ter	stop gained	-	NC_000009.12:g.16435826G>A	TOPMed
rs751188998	p.Gln790His	missense variant	-	NC_000009.12:g.16435824C>G	ExAC,gnomAD
COSM6029953	p.Gln790Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16435826G>T	NCI-TCGA Cosmic
rs889762379	p.Tyr791Cys	missense variant	-	NC_000009.12:g.16435822T>C	TOPMed
rs140694690	p.Tyr791His	missense variant	-	NC_000009.12:g.16435823A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs757934305	p.Gly792Glu	missense variant	-	NC_000009.12:g.16435819C>T	ExAC,gnomAD
rs149857656	p.Leu793Val	missense variant	-	NC_000009.12:g.16435817G>C	ESP,ExAC,TOPMed,gnomAD
rs1173068949	p.Leu793Gln	missense variant	-	NC_000009.12:g.16435816A>T	TOPMed,gnomAD
rs140164412	p.Asn795Ser	missense variant	-	NC_000009.12:g.16435810T>C	ESP,ExAC,TOPMed,gnomAD
rs146878452	p.Gly797Arg	missense variant	-	NC_000009.12:g.16435805C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146878452	p.Gly797Arg	missense variant	-	NC_000009.12:g.16435805C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766109458	p.Gly798Cys	missense variant	-	NC_000009.12:g.16435802C>A	ExAC,gnomAD
rs760894948	p.Ala799Thr	missense variant	-	NC_000009.12:g.16435799C>T	ExAC,TOPMed,gnomAD
rs1208899824	p.Ala799Val	missense variant	-	NC_000009.12:g.16435798G>A	gnomAD
NCI-TCGA novel	p.Met801Thr	missense variant	-	NC_000009.12:g.16435792A>G	NCI-TCGA
COSM1461571	p.Ala802Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16435789G>T	NCI-TCGA Cosmic
rs748296825	p.Ala803Thr	missense variant	-	NC_000009.12:g.16435787C>T	ExAC,TOPMed,gnomAD
rs774287597	p.His805Arg	missense variant	-	NC_000009.12:g.16435780T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu806Asp	missense variant	-	NC_000009.12:g.16435776C>A	NCI-TCGA
rs769262078	p.Ser810Leu	missense variant	-	NC_000009.12:g.16435765G>A	ExAC,gnomAD
rs769262078	p.Ser810Leu	missense variant	-	NC_000009.12:g.16435765G>A	NCI-TCGA
rs1227401307	p.Asn813Ser	missense variant	-	NC_000009.12:g.16435756T>C	gnomAD
rs1423963304	p.Tyr814Phe	missense variant	-	NC_000009.12:g.16435753T>A	TOPMed
rs371268674	p.Gly815Ser	missense variant	-	NC_000009.12:g.16435751C>T	ESP,ExAC,gnomAD
rs777619097	p.Ser816Arg	missense variant	-	NC_000009.12:g.16435746G>C	ExAC,gnomAD
rs1161276784	p.Ser816Asn	missense variant	-	NC_000009.12:g.16435747C>T	TOPMed
rs1392731740	p.Pro817Leu	missense variant	-	NC_000009.12:g.16435744G>A	TOPMed
rs201052745	p.Pro817Thr	missense variant	-	NC_000009.12:g.16435745G>T	1000Genomes,ExAC,gnomAD
rs778276870	p.Phe820Leu	missense variant	-	NC_000009.12:g.16435734G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser821Phe	missense variant	-	NC_000009.12:g.16435732G>A	NCI-TCGA
rs1472789940	p.Gly824Arg	missense variant	-	NC_000009.12:g.16435724C>G	gnomAD
rs754961602	p.Asp825Glu	missense variant	-	NC_000009.12:g.16435719G>T	ExAC,TOPMed,gnomAD
rs753655894	p.Leu826Val	missense variant	-	NC_000009.12:g.16435718G>C	ExAC,gnomAD
rs1175588333	p.Cys827Phe	missense variant	-	NC_000009.12:g.16435714C>A	TOPMed,gnomAD
rs374475570	p.Ser828Cys	missense variant	-	NC_000009.12:g.16435711G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser828Tyr	missense variant	-	NC_000009.12:g.16435711G>T	NCI-TCGA
rs767790901	p.Ser829Ile	missense variant	-	NC_000009.12:g.16435708C>A	ExAC,TOPMed,gnomAD
rs1445708619	p.Pro830Ser	missense variant	-	NC_000009.12:g.16435706G>A	gnomAD
COSM3906314	p.Pro830Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16435705G>T	NCI-TCGA Cosmic
rs1264060253	p.Asp831Val	missense variant	-	NC_000009.12:g.16435702T>A	TOPMed
rs774500854	p.Lys833Asn	missense variant	-	NC_000009.12:g.16435695T>A	ExAC,TOPMed,gnomAD
rs774500854	p.Lys833Asn	missense variant	-	NC_000009.12:g.16435695T>G	ExAC,TOPMed,gnomAD
rs768551362	p.Tyr836Cys	missense variant	-	NC_000009.12:g.16435687T>C	ExAC,gnomAD
rs532571959	p.Val837Leu	missense variant	-	NC_000009.12:g.16435685C>A	1000Genomes,ExAC,gnomAD
rs746855838	p.Lys843Arg	missense variant	-	NC_000009.12:g.16435666T>C	gnomAD
NCI-TCGA novel	p.Lys843Thr	missense variant	-	NC_000009.12:g.16435666T>G	NCI-TCGA
rs1284207933	p.Ser844Thr	missense variant	-	NC_000009.12:g.16435663C>G	gnomAD
rs746276768	p.Ser847Arg	missense variant	-	NC_000009.12:g.16435653A>T	ExAC,TOPMed,gnomAD
COSM3906310	p.Val848Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16435652C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu850Arg	missense variant	-	NC_000009.12:g.16435645A>C	NCI-TCGA
rs1319785352	p.Leu850Ile	missense variant	-	NC_000009.12:g.16435646G>T	TOPMed,gnomAD
rs1457612038	p.Leu850His	missense variant	-	NC_000009.12:g.16435645A>T	gnomAD
NCI-TCGA novel	p.His851Tyr	missense variant	-	NC_000009.12:g.16435643G>A	NCI-TCGA
rs1474689616	p.Tyr852Cys	missense variant	-	NC_000009.12:g.16435639T>C	TOPMed
rs1369984431	p.Arg853Lys	missense variant	-	NC_000009.12:g.16435636C>T	TOPMed
NCI-TCGA novel	p.Asn854Lys	missense variant	-	NC_000009.12:g.16435632G>C	NCI-TCGA
rs910492041	p.Asn854Ser	missense variant	-	NC_000009.12:g.16435633T>C	TOPMed
rs747700365	p.Val855Phe	missense variant	-	NC_000009.12:g.16435631C>A	ExAC,TOPMed,gnomAD
rs747700365	p.Val855Ile	missense variant	-	NC_000009.12:g.16435631C>T	ExAC,TOPMed,gnomAD
rs747700365	p.Val855Ile	missense variant	-	NC_000009.12:g.16435631C>T	NCI-TCGA
rs1404922971	p.Glu859Gly	missense variant	-	NC_000009.12:g.16435618T>C	gnomAD
rs754409695	p.Met860Ile	missense variant	-	NC_000009.12:g.16435614C>T	ExAC,TOPMed,gnomAD
rs754409695	p.Met860Ile	missense variant	-	NC_000009.12:g.16435614C>A	ExAC,TOPMed,gnomAD
rs780002369	p.Val862Ile	missense variant	-	NC_000009.12:g.16435610C>T	ExAC,gnomAD
NCI-TCGA novel	p.Val862Leu	missense variant	-	NC_000009.12:g.16435610C>G	NCI-TCGA
rs1300137021	p.Cys863Ser	missense variant	-	NC_000009.12:g.16435606C>G	TOPMed
NCI-TCGA novel	p.Cys863Tyr	missense variant	-	NC_000009.12:g.16435606C>T	NCI-TCGA
rs756039178	p.Val865Met	missense variant	-	NC_000009.12:g.16435601C>T	ExAC,gnomAD
rs750274081	p.Gly867Ser	missense variant	-	NC_000009.12:g.16435595C>T	ExAC,TOPMed,gnomAD
rs762096978	p.Cys868Trp	missense variant	-	NC_000009.12:g.16435590G>C	ExAC
rs1271597683	p.Asn869Ser	missense variant	-	NC_000009.12:g.16435588T>C	TOPMed,gnomAD
rs1342625140	p.Ala870Val	missense variant	-	NC_000009.12:g.16435585G>A	TOPMed
NCI-TCGA novel	p.Ala871Glu	missense variant	-	NC_000009.12:g.16435582G>T	NCI-TCGA
rs1290133928	p.Arg875Cys	missense variant	-	NC_000009.12:g.16435571G>A	gnomAD
rs565215420	p.Arg875Leu	missense variant	-	NC_000009.12:g.16435570C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs565215420	p.Arg875His	missense variant	-	NC_000009.12:g.16435570C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs770491820	p.Arg876Gln	missense variant	-	NC_000009.12:g.16435567C>T	ExAC,gnomAD
rs1296819700	p.Arg876Ter	stop gained	-	NC_000009.12:g.16435568G>A	gnomAD
rs1296819700	p.Arg876Ter	stop gained	-	NC_000009.12:g.16435568G>A	NCI-TCGA
rs1180035312	p.Arg878Gln	missense variant	-	NC_000009.12:g.16435561C>T	NCI-TCGA Cosmic
rs1180035312	p.Arg878Gln	missense variant	-	NC_000009.12:g.16435561C>T	gnomAD
rs531118224	p.Ala883Thr	missense variant	-	NC_000009.12:g.16419642C>T	1000Genomes,ExAC,gnomAD
rs1216369154	p.Ala883Asp	missense variant	-	NC_000009.12:g.16419641G>T	TOPMed
NCI-TCGA novel	p.Asn884Lys	missense variant	-	NC_000009.12:g.16419637G>T	NCI-TCGA
rs373879208	p.Asn886Lys	missense variant	-	NC_000009.12:g.16419631G>T	ESP,ExAC,TOPMed,gnomAD
rs370046975	p.His888Tyr	missense variant	-	NC_000009.12:g.16419627G>A	ESP,ExAC,TOPMed,gnomAD
RCV000760297	p.His888Arg	missense variant	Lower Urinary Tract Obstruction	NC_000009.12:g.16419626T>C	ClinVar
RCV000852368	p.His888Arg	missense variant	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL (LUTO)	NC_000009.12:g.16419626T>C	ClinVar
rs755792115	p.Arg889His	missense variant	-	NC_000009.12:g.16419623C>T	ExAC,gnomAD
rs779084645	p.Arg889Cys	missense variant	-	NC_000009.12:g.16419624G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys890AspLys	insertion	-	NC_000009.12:g.16419618_16419619insCTTGTC	NCI-TCGA
NCI-TCGA novel	p.Leu892Phe	missense variant	-	NC_000009.12:g.16419613C>G	NCI-TCGA
rs1307879897	p.Leu892Ser	missense variant	-	NC_000009.12:g.16419614A>G	gnomAD
rs750053911	p.Lys894Arg	missense variant	-	NC_000009.12:g.16419608T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp897Tyr	missense variant	-	NC_000009.12:g.16419600C>A	NCI-TCGA
rs756874020	p.Asp897Asn	missense variant	-	NC_000009.12:g.16419600C>T	ExAC,TOPMed,gnomAD
rs751082440	p.Asp898His	missense variant	-	NC_000009.12:g.16419597C>G	ExAC,gnomAD
rs1408699781	p.Asp898Ala	missense variant	-	NC_000009.12:g.16419596T>G	gnomAD
rs762786207	p.Met899Val	missense variant	-	NC_000009.12:g.16419594T>C	ExAC,gnomAD
rs781416101	p.Gly900Arg	missense variant	-	NC_000009.12:g.16419591C>G	TOPMed
rs781416101	p.Gly900Ser	missense variant	-	NC_000009.12:g.16419591C>T	TOPMed
rs112319445	p.Gly900Val	missense variant	-	NC_000009.12:g.16419590C>A	TOPMed
rs1362862251	p.Leu901Gln	missense variant	-	NC_000009.12:g.16419587A>T	gnomAD
rs1302257197	p.Asp902His	missense variant	-	NC_000009.12:g.16419585C>G	TOPMed
COSM3906309	p.Asp902Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16419585C>A	NCI-TCGA Cosmic
COSM4876706	p.Asp902Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16419583G>C	NCI-TCGA Cosmic
rs752551063	p.Ser903Leu	missense variant	-	NC_000009.12:g.16419581G>A	ExAC,TOPMed,gnomAD
rs759786995	p.Ser904Thr	missense variant	-	NC_000009.12:g.16419579A>T	ExAC,gnomAD
rs542038873	p.Ser904Leu	missense variant	-	NC_000009.12:g.16419578G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1305298202	p.Pro906Ser	missense variant	-	NC_000009.12:g.16419573G>A	TOPMed
rs148292840	p.Leu908Pro	missense variant	-	NC_000009.12:g.16419566A>G	ESP,ExAC,TOPMed,gnomAD
rs148292840	p.Leu908Arg	missense variant	-	NC_000009.12:g.16419566A>C	ESP,ExAC,TOPMed,gnomAD
rs1459130413	p.Ser909Thr	missense variant	-	NC_000009.12:g.16419563C>G	TOPMed,gnomAD
rs144217211	p.Asp911Glu	missense variant	-	NC_000009.12:g.16419556G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM752944	p.Asp911Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16419558C>A	NCI-TCGA Cosmic
rs142906838	p.Arg913His	missense variant	-	NC_000009.12:g.16419551C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201906895	p.Arg913Cys	missense variant	-	NC_000009.12:g.16419552G>A	ExAC,TOPMed,gnomAD
rs1385446031	p.Asp914His	missense variant	-	NC_000009.12:g.16419549C>G	TOPMed,gnomAD
rs1385446031	p.Asp914Asn	missense variant	-	NC_000009.12:g.16419549C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Glu915Gln	missense variant	-	NC_000009.12:g.16419546C>G	NCI-TCGA
COSM1461569	p.Phe916Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16419541A>C	NCI-TCGA Cosmic
rs756964014	p.Val918Leu	missense variant	-	NC_000009.12:g.16419537C>G	ExAC,TOPMed,gnomAD
rs756964014	p.Val918Met	missense variant	-	NC_000009.12:g.16419537C>T	ExAC,TOPMed,gnomAD
rs1434809721	p.Lys919Glu	missense variant	-	NC_000009.12:g.16419534T>C	gnomAD
rs751172524	p.Ile920Val	missense variant	-	NC_000009.12:g.16419531T>C	ExAC,TOPMed,gnomAD
rs138887153	p.Ile920Met	missense variant	-	NC_000009.12:g.16419529T>C	ESP,ExAC,TOPMed,gnomAD
rs377436091	p.Tyr921Cys	missense variant	-	NC_000009.12:g.16419527T>C	ESP,ExAC,TOPMed,gnomAD
rs370230174	p.Tyr921His	missense variant	-	NC_000009.12:g.16419528A>G	ESP,ExAC,TOPMed,gnomAD
rs3739716	p.Gly922Asp	missense variant	-	NC_000009.12:g.16419524C>T	ExAC,gnomAD
rs117452684	p.Ala923Gly	missense variant	-	NC_000009.12:g.16419521G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs117452684	p.Ala923Val	missense variant	-	NC_000009.12:g.16419521G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000190266	p.Ala923Val	missense variant	-	NC_000009.12:g.16419521G>A	ClinVar
rs145962490	p.Ala923Ser	missense variant	-	NC_000009.12:g.16419522C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln924SerPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.16419519G>-	NCI-TCGA
rs576728040	p.His925Gln	missense variant	-	NC_000009.12:g.16419514G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs576728040	p.His925Gln	missense variant	-	NC_000009.12:g.16419514G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs368784393	p.Pro926Leu	missense variant	-	NC_000009.12:g.16419512G>A	ESP,ExAC,TOPMed,gnomAD
rs1446177709	p.Pro926Thr	missense variant	-	NC_000009.12:g.16419513G>T	TOPMed,gnomAD
rs1446177709	p.Pro926Ala	missense variant	-	NC_000009.12:g.16419513G>C	TOPMed,gnomAD
rs368784393	p.Pro926His	missense variant	-	NC_000009.12:g.16419512G>T	ESP,ExAC,TOPMed,gnomAD
rs1301127668	p.Met927Thr	missense variant	-	NC_000009.12:g.16419509A>G	TOPMed
rs138000896	p.Asp930Asn	missense variant	-	NC_000009.12:g.16419501C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000190267	p.Asp930Gly	missense variant	-	NC_000009.12:g.16419500T>C	ClinVar
rs41268965	p.Asp930Gly	missense variant	-	NC_000009.12:g.16419500T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780561477	p.Val931Ile	missense variant	-	NC_000009.12:g.16419498C>T	ExAC,TOPMed,gnomAD
rs1327351086	p.Arg932Gly	missense variant	-	NC_000009.12:g.16419495T>C	gnomAD
rs1295881023	p.Glu933Lys	missense variant	-	NC_000009.12:g.16419492C>T	gnomAD
rs757805720	p.Ala935Val	missense variant	-	NC_000009.12:g.16419485G>A	ExAC,TOPMed,gnomAD
rs1234264230	p.Ala935Thr	missense variant	-	NC_000009.12:g.16419486C>T	TOPMed
rs993102454	p.Ser936Ala	missense variant	-	NC_000009.12:g.16419483A>C	TOPMed,gnomAD
rs778761698	p.Ser936Phe	missense variant	-	NC_000009.12:g.16419482G>A	ExAC,TOPMed,gnomAD
rs754893610	p.Ser937Phe	missense variant	-	NC_000009.12:g.16419479G>A	ExAC,gnomAD
rs766109513	p.Pro938Thr	missense variant	-	NC_000009.12:g.16419477G>T	ExAC,gnomAD
rs766109513	p.Pro938Ser	missense variant	-	NC_000009.12:g.16419477G>A	ExAC,gnomAD
rs766109513	p.Pro938Ala	missense variant	-	NC_000009.12:g.16419477G>C	ExAC,gnomAD
rs140165119	p.Ala939Ser	missense variant	-	NC_000009.12:g.16419474C>A	ESP,ExAC,TOPMed,gnomAD
rs140165119	p.Ala939Pro	missense variant	-	NC_000009.12:g.16419474C>G	ESP,ExAC,TOPMed,gnomAD
rs140165119	p.Ala939Thr	missense variant	-	NC_000009.12:g.16419474C>T	ESP,ExAC,TOPMed,gnomAD
rs1409456489	p.Gly940Arg	missense variant	-	NC_000009.12:g.16419471C>G	TOPMed
rs1223385000	p.Ser944Pro	missense variant	-	NC_000009.12:g.16419459A>G	TOPMed,gnomAD
rs1356513994	p.His945Tyr	missense variant	-	NC_000009.12:g.16419456G>A	TOPMed
rs1490852363	p.Leu946Val	missense variant	-	NC_000009.12:g.16419453G>C	gnomAD
rs962332422	p.Gly948Arg	missense variant	-	NC_000009.12:g.16419447C>T	-
rs1344096600	p.Tyr949Cys	missense variant	-	NC_000009.12:g.16419443T>C	TOPMed
rs1340503764	p.Gly950Glu	missense variant	-	NC_000009.12:g.16419440C>T	gnomAD
rs764765254	p.Gly952Arg	missense variant	-	NC_000009.12:g.16419435C>G	ExAC,TOPMed,gnomAD
rs1282205605	p.Met953Ile	missense variant	-	NC_000009.12:g.16419430C>T	gnomAD
rs1343306709	p.Met953Val	missense variant	-	NC_000009.12:g.16419432T>C	gnomAD
rs763487720	p.Ala954Thr	missense variant	-	NC_000009.12:g.16419429C>T	ExAC,gnomAD
rs1306119283	p.Asp956Gly	missense variant	-	NC_000009.12:g.16419422T>C	gnomAD
rs201371406	p.Met958Leu	missense variant	-	NC_000009.12:g.16419417T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs201371406	p.Met958Val	missense variant	-	NC_000009.12:g.16419417T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs770234380	p.Met958Ile	missense variant	-	NC_000009.12:g.16419415C>T	ExAC,gnomAD
rs746704528	p.Asp961Tyr	missense variant	-	NC_000009.12:g.16419408C>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp961Glu	missense variant	-	NC_000009.12:g.16419406G>T	NCI-TCGA
NCI-TCGA novel	p.Asp961Asn	missense variant	-	NC_000009.12:g.16419408C>T	NCI-TCGA
rs1464340354	p.Leu962Phe	missense variant	-	NC_000009.12:g.16419403C>G	TOPMed,gnomAD
rs772778996	p.Thr964Ser	missense variant	-	NC_000009.12:g.16419398G>C	ExAC,gnomAD
rs373606750	p.Thr965Asn	missense variant	-	NC_000009.12:g.16419395G>T	ESP,ExAC,gnomAD
rs1249641384	p.Leu968Val	missense variant	-	NC_000009.12:g.16419387G>C	gnomAD
NCI-TCGA novel	p.Ser973Asn	missense variant	-	NC_000009.12:g.16419371C>T	NCI-TCGA
rs749179153	p.Ile974Thr	missense variant	-	NC_000009.12:g.16419368A>G	ExAC,gnomAD
rs35005898	p.Ile974Val	missense variant	-	NC_000009.12:g.16419369T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000190268	p.Ile974Val	missense variant	-	NC_000009.12:g.16419369T>C	ClinVar
rs750212130	p.Glu979Ter	stop gained	-	NC_000009.12:g.16419354C>A	ExAC
rs1262424171	p.Glu979Gly	missense variant	-	NC_000009.12:g.16419353T>C	TOPMed
rs767692182	p.Ser980Pro	missense variant	-	NC_000009.12:g.16419351A>G	ExAC,gnomAD
rs374901966	p.Asp981Glu	missense variant	-	NC_000009.12:g.16419346G>T	ESP,ExAC,TOPMed,gnomAD
rs201719018	p.Asp981Asn	missense variant	-	NC_000009.12:g.16419348C>T	1000Genomes,ExAC,gnomAD
rs371693182	p.Ala982Thr	missense variant	-	NC_000009.12:g.16419345C>T	ESP,ExAC,TOPMed,gnomAD
rs1330774623	p.Gly983Val	missense variant	-	NC_000009.12:g.16419341C>A	gnomAD
COSM1107493	p.Ser984Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16419338C>T	NCI-TCGA Cosmic
rs765807072	p.Asp985Asn	missense variant	-	NC_000009.12:g.16419336C>T	ExAC,TOPMed,gnomAD
rs765807072	p.Asp985His	missense variant	-	NC_000009.12:g.16419336C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu986Gly	missense variant	-	NC_000009.12:g.16419332T>C	NCI-TCGA
rs759866043	p.Glu986Asp	missense variant	-	NC_000009.12:g.16419331C>G	ExAC,gnomAD
rs1471115877	p.Ile988Phe	missense variant	-	NC_000009.12:g.16419327T>A	gnomAD
rs777038789	p.Leu989Phe	missense variant	-	NC_000009.12:g.16419324G>A	ExAC,TOPMed,gnomAD
rs773877749	p.Asp991Val	missense variant	-	NC_000009.12:g.16419317T>A	ExAC,gnomAD
rs753276488	p.Asp991Asn	missense variant	-	NC_000009.12:g.16419318C>T	ExAC,TOPMed,gnomAD
rs773877749	p.Asp991Gly	missense variant	-	NC_000009.12:g.16419317T>C	ExAC,gnomAD
rs753276488	p.Asp991Tyr	missense variant	-	NC_000009.12:g.16419318C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp992Tyr	missense variant	-	NC_000009.12:g.16419315C>A	NCI-TCGA
rs374764242	p.Ile993Thr	missense variant	-	NC_000009.12:g.16419311A>G	ESP,ExAC,TOPMed,gnomAD
rs534810855	p.Ile993Val	missense variant	-	NC_000009.12:g.16419312T>C	1000Genomes,ExAC,gnomAD
rs889693656	p.Asp994Asn	missense variant	-	NC_000009.12:g.16419309C>T	TOPMed
rs143124811	p.Gly995Arg	missense variant	-	NC_000009.12:g.16419306C>G	ESP,ExAC,TOPMed,gnomAD
rs143124811	p.Gly995Arg	missense variant	-	NC_000009.12:g.16419306C>T	ESP,ExAC,TOPMed,gnomAD
rs780975017	p.Gly995Glu	missense variant	-	NC_000009.12:g.16419305C>T	ExAC,gnomAD
rs1281236482	p.Ala996Gly	missense variant	-	NC_000009.12:g.16419302G>C	gnomAD
rs751782260	p.Ser997Asn	missense variant	-	NC_000009.12:g.16419299C>T	ExAC,gnomAD
rs778028950	p.Gly1000Arg	missense variant	-	NC_000009.12:g.16419291C>T	ExAC,gnomAD
rs1454355313	p.Gly1000Ala	missense variant	-	NC_000009.12:g.16419290C>G	gnomAD
rs758589695	p.Glu1001Lys	missense variant	-	NC_000009.12:g.16419288C>T	ExAC,gnomAD
rs752799809	p.Ser1002Trp	missense variant	-	NC_000009.12:g.16419284G>C	ExAC,TOPMed,gnomAD
rs752799809	p.Ser1002Leu	missense variant	-	NC_000009.12:g.16419284G>A	ExAC,TOPMed,gnomAD
rs1401377861	p.Ala1003Thr	missense variant	-	NC_000009.12:g.16419282C>T	gnomAD
NCI-TCGA novel	p.His1004Arg	missense variant	-	NC_000009.12:g.16419278T>C	NCI-TCGA
rs143280183	p.Ala1006Val	missense variant	-	NC_000009.12:g.16419272G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs552303945	p.Glu1007Lys	missense variant	-	NC_000009.12:g.16419270C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Glu1007Asp	missense variant	-	NC_000009.12:g.16419268C>A	NCI-TCGA
rs200106312	p.Ala1008Thr	missense variant	-	NC_000009.12:g.16419267C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs774036140	p.Ala1008Asp	missense variant	-	NC_000009.12:g.16419266G>T	ExAC,TOPMed,gnomAD
rs139357194	p.Pro1009Thr	missense variant	-	NC_000009.12:g.16419264G>T	1000Genomes
rs1214572092	p.Pro1009Leu	missense variant	-	NC_000009.12:g.16419263G>A	TOPMed,gnomAD
rs946095033	p.Leu1011Phe	missense variant	-	NC_000009.12:g.16419258G>A	TOPMed
rs1447094048	p.Pro1012His	missense variant	-	NC_000009.12:g.16419254G>T	gnomAD
rs762510217	p.Gly1013Val	missense variant	-	NC_000009.12:g.16419251C>A	ExAC,gnomAD
rs769624779	p.Ser1014Ile	missense variant	-	NC_000009.12:g.16419248C>A	ExAC,gnomAD
rs780872323	p.Glu1018Lys	missense variant	-	NC_000009.12:g.16419237C>T	ExAC,TOPMed,gnomAD
rs1359540880	p.Ser1020Ala	missense variant	-	NC_000009.12:g.16419231A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ser1020Ter	stop gained	-	NC_000009.12:g.16419230G>T	NCI-TCGA
rs891839945	p.Gly1021Val	missense variant	-	NC_000009.12:g.16419227C>A	TOPMed
NCI-TCGA novel	p.Ser1022Phe	missense variant	-	NC_000009.12:g.16419224G>A	NCI-TCGA
rs1309358409	p.Ser1022Cys	missense variant	-	NC_000009.12:g.16419224G>C	TOPMed,gnomAD
COSM6182996	p.Ser1022Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16419224G>T	NCI-TCGA Cosmic
rs770720226	p.Leu1023Arg	missense variant	-	NC_000009.12:g.16419221A>C	ExAC,gnomAD
rs763731321	p.Met1024Ile	missense variant	-	NC_000009.12:g.16419217C>T	ExAC,TOPMed,gnomAD
rs1347175801	p.Met1024Thr	missense variant	-	NC_000009.12:g.16419218A>G	gnomAD
rs778188351	p.Phe1025Leu	missense variant	-	NC_000009.12:g.16419216A>G	ExAC,gnomAD
rs374738575	p.Ser1026Arg	missense variant	-	NC_000009.12:g.16419213T>G	ESP,TOPMed
rs200590786	p.Leu1028Phe	missense variant	-	NC_000009.12:g.16419205C>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ser1029Phe	missense variant	-	NC_000009.12:g.16419203G>A	NCI-TCGA
rs372397169	p.Gly1030Glu	missense variant	-	NC_000009.12:g.16419200C>T	ESP,ExAC,TOPMed,gnomAD
rs372397169	p.Gly1030Ala	missense variant	-	NC_000009.12:g.16419200C>G	ESP,ExAC,TOPMed,gnomAD
rs1284878193	p.Ser1031Gly	missense variant	-	NC_000009.12:g.16419198T>C	TOPMed
rs766769136	p.Asn1032Ser	missense variant	-	NC_000009.12:g.16419194T>C	ExAC,gnomAD
rs761079076	p.Ile1035Phe	missense variant	-	NC_000009.12:g.16419186T>A	ExAC,gnomAD
rs750775937	p.Met1036Val	missense variant	-	NC_000009.12:g.16419183T>C	ExAC,gnomAD
rs1243465212	p.Met1036Ile	missense variant	-	NC_000009.12:g.16419181C>T	gnomAD
NCI-TCGA novel	p.Asn1038Ser	missense variant	-	NC_000009.12:g.16419176T>C	NCI-TCGA
rs1305092172	p.Met1043Ile	missense variant	-	NC_000009.12:g.16419160C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser1045Arg	missense variant	-	NC_000009.12:g.16419154G>T	NCI-TCGA
NCI-TCGA novel	p.Ser1045Asn	missense variant	-	NC_000009.12:g.16419155C>T	NCI-TCGA
rs750965986	p.Ser1045Gly	missense variant	-	NC_000009.12:g.16419156T>C	ExAC,gnomAD
rs769298824	p.Asn1046Ser	missense variant	-	NC_000009.12:g.16419152T>C	ExAC,TOPMed,gnomAD
rs1305556830	p.Lys1047Arg	missense variant	-	NC_000009.12:g.16419149T>C	gnomAD
COSM6182997	p.Lys1047Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16419148C>A	NCI-TCGA Cosmic
rs1462802321	p.Gly1048Arg	missense variant	-	NC_000009.12:g.16419147C>G	TOPMed
rs1363523575	p.Val1052Ala	missense variant	-	NC_000009.12:g.16419134A>G	TOPMed
rs776670051	p.Val1057Met	missense variant	-	NC_000009.12:g.16419120C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu1059Phe	missense variant	-	NC_000009.12:g.16419112C>G	NCI-TCGA
rs1364412936	p.Leu1059Ser	missense variant	-	NC_000009.12:g.16419113A>G	gnomAD
COSM6115256	p.Arg1060Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16419110C>T	NCI-TCGA Cosmic
COSM1314696	p.Arg1060Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16419110C>G	NCI-TCGA Cosmic
rs972534877	p.Lys1066Asn	missense variant	-	NC_000009.12:g.16419091T>G	TOPMed
rs920077298	p.Lys1066Thr	missense variant	-	NC_000009.12:g.16419092T>G	TOPMed
COSM752946	p.Cys1070Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16419080C>A	NCI-TCGA Cosmic
rs1404445762	p.Met1072Thr	missense variant	-	NC_000009.12:g.16419074A>G	gnomAD
rs770750456	p.Met1073Leu	missense variant	-	NC_000009.12:g.16419072T>G	ExAC,gnomAD
rs770750456	p.Met1073Val	missense variant	-	NC_000009.12:g.16419072T>C	ExAC,gnomAD
NCI-TCGA novel	p.Phe1074Leu	missense variant	-	NC_000009.12:g.16419067A>C	NCI-TCGA
rs746857220	p.Arg1078Gln	missense variant	-	NC_000009.12:g.16419056C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg1078Ter	stop gained	-	NC_000009.12:g.16419057G>A	NCI-TCGA
rs772424815	p.Arg1080Leu	missense variant	-	NC_000009.12:g.16419050C>A	ExAC,gnomAD
rs772424815	p.Arg1080Gln	missense variant	-	NC_000009.12:g.16419050C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg1080Ter	stop gained	-	NC_000009.12:g.16419051G>A	NCI-TCGA
rs528196175	p.Arg1082Trp	missense variant	-	NC_000009.12:g.16419045G>A	gnomAD
rs748318764	p.Arg1082Gln	missense variant	-	NC_000009.12:g.16419044C>T	ExAC,TOPMed,gnomAD
rs147286013	p.His1083Gln	missense variant	-	NC_000009.12:g.16419040G>C	1000Genomes,ExAC,gnomAD
rs1425363271	p.His1083Asn	missense variant	-	NC_000009.12:g.16419042G>T	gnomAD
rs1268895523	p.Ser1084Gly	missense variant	-	NC_000009.12:g.16419039T>C	gnomAD
rs755129312	p.Pro1087Leu	missense variant	-	NC_000009.12:g.16419029G>A	ExAC,gnomAD
rs749309637	p.Asn1088Asp	missense variant	-	NC_000009.12:g.16419027T>C	ExAC,gnomAD
rs749309637	p.Asn1088His	missense variant	-	NC_000009.12:g.16419027T>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu1089Phe	missense variant	-	NC_000009.12:g.16419024G>A	NCI-TCGA
rs955832729	p.Lys1091Ter	stop gained	-	NC_000009.12:g.16419018T>A	TOPMed,gnomAD
rs756611837	p.Lys1091Arg	missense variant	-	NC_000009.12:g.16419017T>C	ExAC,gnomAD
rs986395719	p.Ile1093Phe	missense variant	-	NC_000009.12:g.16419012T>A	TOPMed
rs986395719	p.Ile1093Val	missense variant	-	NC_000009.12:g.16419012T>C	TOPMed
rs1261523648	p.Pro1094Ala	missense variant	-	NC_000009.12:g.16419009G>C	gnomAD
COSM1461565	p.Thr1096Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16419002G>A	NCI-TCGA Cosmic
rs750792460	p.Ser1097Leu	missense variant	-	NC_000009.12:g.16418999G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val1098Glu	missense variant	-	NC_000009.12:g.16418996A>T	NCI-TCGA
rs541082740	p.Asp1099Val	missense variant	-	NC_000009.12:g.16418993T>A	1000Genomes,ExAC,gnomAD
rs1324381141	p.Asp1099His	missense variant	-	NC_000009.12:g.16418994C>G	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0004096	Asthma	disease	GWASDB
C0004763	Barrett Esophagus	disease	BEFREE
C0008925	Cleft Palate	disease	CTD_human
C0011847	Diabetes	disease	BEFREE
C0011849	Diabetes Mellitus	group	BEFREE
C0011854	Diabetes Mellitus, Insulin-Dependent	disease	GWASDB
C0014175	Endometriosis	disease	BEFREE
C0016689	Freckles	phenotype	GWASCAT;GWASDB
C0020615	Hypoglycemia	disease	BEFREE
C0024117	Chronic Obstructive Airway Disease	disease	GWASCAT
C0029925	Ovarian Carcinoma	disease	BEFREE;GWASDB
C0037361	Smell Perception	phenotype	GWASDB
C0039585	Androgen-Insensitivity Syndrome	disease	BEFREE
C0202236	Triglycerides measurement	phenotype	GWASDB
C0376634	Craniofacial Abnormalities	group	CTD_human
C0410702	Adolescent idiopathic scoliosis	phenotype	BEFREE;GWASCAT
C0596263	Carcinogenesis	phenotype	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE;GWASDB
C0848558	Hypospadias	group	BEFREE
C0858864	Spot pigmented	disease	BEFREE
C0919267	ovarian neoplasm	disease	CTD_human
C1140680	Malignant neoplasm of ovary	disease	BEFREE;CTD_human
C1275122	Familial multiple trichoepitheliomata	disease	BEFREE
C1691215	Penile hypospadias	disease	BEFREE
C1837218	Cleft palate, isolated	disease	CTD_human
C2239176	Liver carcinoma	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003677	DNA binding	IEA
GO:0046872	metal ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0003416	endochondral bone growth	IEA
GO:0043586	tongue development	IEA
GO:0060021	roof of mouth development	IEA
GO:0060485	mesenchyme development	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005654	nucleoplasm	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of BNC2 mRNA	28628672
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of BNC2 mRNA	28628672
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in decreased expression of BNC2 mRNA	24810058
C049584	2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine	2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine results in decreased expression of BNC2 mRNA	20816883
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BNC2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BNC2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BNC2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BNC2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BNC2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BNC2 mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of BNC2 mRNA	20382639
D020106	Acrylamide	Acrylamide results in increased expression of BNC2 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of BNC2 intron	30157460
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of BNC2 mRNA	24449571
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of BNC2 mRNA	26705709
C487081	belinostat	belinostat results in increased expression of BNC2 mRNA	26272509
C487081	belinostat	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BNC2 mRNA	27188386
D001564	Benzo(a)pyrene	Benzo(a)pyrene promotes the reaction [AHR protein binds to BNC2 promoter]	19654925
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of BNC2 mRNA	22228805
C543008	bis(4-hydroxyphenyl)sulfone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of BNC2 mRNA	28628672
C006780	bisphenol A	bisphenol A results in increased methylation of BNC2 intron	30906313
C006780	bisphenol A	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of BNC2 mRNA	28628672
C006780	bisphenol A	bisphenol A results in decreased expression of BNC2 mRNA	25181051; 30816183;
C018475	butyraldehyde	butyraldehyde results in decreased expression of BNC2 mRNA	26079696
D002117	Calcitriol	Calcitriol results in decreased expression of BNC2 mRNA	26485663
D002945	Cisplatin	Cisplatin affects the expression of BNC2 mRNA	23300844
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of BNC2 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of BNC2 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of BNC2 mRNA	25270620
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of BNC2 mRNA	19320972
D003300	Copper	Copper deficiency results in increased expression of BNC2 mRNA	26033743
D003471	Cuprizone	Cuprizone results in increased expression of BNC2 mRNA	26577399
D016572	Cyclosporine	Cyclosporine results in increased methylation of BNC2 promoter	27989131
D003561	Cytarabine	Cytarabine results in decreased expression of BNC2 mRNA	21198554
D000077209	Decitabine	Decitabine affects the expression of BNC2 mRNA	23300844
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of BNC2 mRNA]	27941970
D003907	Dexamethasone	Dexamethasone results in decreased expression of BNC2 mRNA	25047013
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of BNC2 mRNA	28628672
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of BNC2 mRNA	28628672
D019422	Dietary Sucrose	Dietary Sucrose results in increased expression of BNC2 mRNA	26033743
D004237	Diuron	Diuron results in decreased expression of BNC2 mRNA	25152437
C516138	dorsomorphin	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BNC2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BNC2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BNC2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BNC2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BNC2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BNC2 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of BNC2 mRNA	29803840
D013759	Dronabinol	Dronabinol affects the methylation of BNC2 gene	26044905
C118739	entinostat	entinostat results in increased expression of BNC2 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BNC2 mRNA	27188386
D017313	Fenretinide	Fenretinide results in decreased expression of BNC2 mRNA	28973697
D005557	Formaldehyde	Formaldehyde results in decreased expression of BNC2 mRNA	23416264; 23649840;
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of BNC2 mRNA	28628672
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of BNC2 mRNA	28628672
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of BNC2 mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of BNC2 mRNA	24796395
D008558	Melphalan	Melphalan results in decreased expression of BNC2 mRNA	22363485
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of BNC2 mRNA	23103053
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of BNC2 mRNA	23179753; 28001369;
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of BNC2 mRNA	26011545
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of BNC2 mRNA	23649840
C523799	MRK 003	BNC2 results in increased susceptibility to MRK 003	19903844
D009532	Nickel	Nickel results in decreased expression of BNC2 mRNA	24768652; 25583101;
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BNC2 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of BNC2 mRNA	26272509
D010634	Phenobarbital	NR1I3 protein affects the reaction [Phenobarbital results in increased expression of BNC2 mRNA]	19482888
D010634	Phenobarbital	Phenobarbital results in increased expression of BNC2 mRNA	19482888
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BNC2 mRNA	27188386
D010938	Plant Oils	Plant Oils results in decreased expression of BNC2 mRNA	23370395
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of BNC2 mRNA	22714537
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of BNC2 mRNA	24780913
D012402	Rotenone	Rotenone results in decreased expression of BNC2 mRNA	29955902
D012834	Silver	Silver results in decreased expression of BNC2 mRNA	27131904
C017947	sodium arsenite	sodium arsenite results in increased expression of BNC2 mRNA	29301061
D012999	Soman	Soman results in decreased expression of BNC2 mRNA	19281266
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of BNC2 mRNA	31299295
D013629	Tamoxifen	Tamoxifen results in increased expression of BNC2 mRNA	25123088
D019284	Thapsigargin	Thapsigargin results in decreased expression of BNC2 mRNA	22378314
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of BNC2 mRNA	28065790
D014212	Tretinoin	Tretinoin results in increased expression of BNC2 mRNA	21934132; 23724009;
D014241	Trichloroethylene	Trichloroethylene results in increased methylation of BNC2 gene	27618143
C012589	trichostatin A	trichostatin A results in increased expression of BNC2 mRNA	24935251
D014260	Triclosan	Triclosan results in increased expression of BNC2 mRNA	30510588
D014415	Tunicamycin	Tunicamycin results in decreased expression of BNC2 mRNA	22378314
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BNC2 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in decreased methylation of BNC2 gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of BNC2 mRNA	24383497; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased expression of BNC2 mRNA	24896083
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of BNC2 gene	25560391
D000077337	Vorinostat	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BNC2 mRNA	27188386

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0225	Disease mutation
KW-1017	Isopeptide bond
KW-0479	Metal-binding
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0832	Ubl conjugation
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR040436	Disconnected-like
IPR013087	Znf_C2H2_type

PROSITE

PROSITE ID	PROSITE Term
PS00028	ZINC_FINGER_C2H2_1
PS50157	ZINC_FINGER_C2H2_2

Pfam

Pfam ID	Pfam Term
PF00096	zf-C2H2

Gene: BNC2

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction