CleftGeneDB-Search

Gene: NCOR2

Basic information

Tag	Content
Uniprot ID	Q9Y618; O00613; O15416; O15421; Q13354; Q56D06; Q59GM0; Q9Y5U0;
Entrez ID	9612
Genbank protein ID	AAB91446.1; BAD92326.1; AAB91452.1; AAD22973.1; AAD20946.1; AAC50236.1; AAB50847.1; AAX77219.1;
Genbank nucleotide ID	NM_001206654.1; NM_001077261.3; NM_006312.5;
Ensembl protein ID	ENSP00000384018
Ensembl nucleotide ID	ENSG00000196498
Gene name	Nuclear receptor corepressor 2
Gene symbol	NCOR2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Transcriptional corepressor (PubMed:20812024). Mediates the transcriptional repression activity of some nuclear receptors by promoting chromatin condensation, thus preventing access of the basal transcription. Isoform 1 and isoform 4 have different affinities for different nuclear receptors. Involved in the regulation BCL6-dependent of the germinal center (GC) reactions, mainly through the control of the GC B-cells proliferation and survival. Recruited by ZBTB7A to the androgen response elements/ARE on target genes, negatively regulates androgen receptor signaling and androgen-induced cell proliferation (PubMed:20812024).
Sequence	MSGSTQPVAQ TWRATEPRYP PHSLSYPVQI ARTHTDVGLL EYQHHSRDYA SHLSPGSIIQ 60 PQRRRPSLLS EFQPGNERSQ ELHLRPESHS YLPELGKSEM EFIESKRPRL ELLPDPLLRP 120 SPLLATGQPA GSEDLTKDRS LTGKLEPVSP PSPPHTDPEL ELVPPRLSKE ELIQNMDRVD 180 REITMVEQQI SKLKKKQQQL EEEAAKPPEP EKPVSPPPIE SKHRSLVQII YDENRKKAEA 240 AHRILEGLGP QVELPLYNQP SDTRQYHENI KINQAMRKKL ILYFKRRNHA RKQWEQKFCQ 300 RYDQLMEAWE KKVERIENNP RRRAKESKVR EYYEKQFPEI RKQRELQERM QSRVGQRGSG 360 LSMSAARSEH EVSEIIDGLS EQENLEKQMR QLAVIPPMLY DADQQRIKFI NMNGLMADPM 420 KVYKDRQVMN MWSEQEKETF REKFMQHPKN FGLIASFLER KTVAECVLYY YLTKKNENYK 480 SLVRRSYRRR GKSQQQQQQQ QQQQQQQQQQ PMPRSSQEEK DEKEKEKEAE KEEEKPEVEN 540 DKEDLLKEKT DDTSGEDNDE KEAVASKGRK TANSQGRRKG RITRSMANEA NSEEAITPQQ 600 SAELASMELN ESSRWTEEEM ETAKKGLLEH GRNWSAIARM VGSKTVSQCK NFYFNYKKRQ 660 NLDEILQQHK LKMEKERNAR RKKKKAPAAA SEEAAFPPVV EDEEMEASGV SGNEEEMVEE 720 AEALHASGNE VPRGECSGPA TVNNSSDTES IPSPHTEAAK DTGQNGPKPP ATLGADGPPP 780 GPPTPPPEDI PAPTEPTPAS EATGAPTPPP APPSPSAPPP VVPKEEKEEE TAAAPPVEEG 840 EEQKPPAAEE LAVDTGKAEE PVKSECTEEA EEGPAKGKDA EAAEATAEGA LKAEKKEGGS 900 GRATTAKSSG APQDSDSSAT CSADEVDEAE GGDKNRLLSP RPSLLTPTGD PRANASPQKP 960 LDLKQLKQRA AAIPPIQVTK VHEPPREDAA PTKPAPPAPP PPQNLQPESD APQQPGSSPR 1020 GKSRSPAPPA DKEAFAAEAQ KLPGDPPCWT SGLPFPVPPR EVIKASPHAP DPSAFSYAPP 1080 GHPLPLGLHD TARPVLPRPP TISNPPPLIS SAKHPSVLER QIGAISQGMS VQLHVPYSEH 1140 AKAPVGPVTM GLPLPMDPKK LAPFSGVKQE QLSPRGQAGP PESLGVPTAQ EASVLRGTAL 1200 GSVPGGSITK GIPSTRVPSD SAITYRGSIT HGTPADVLYK GTITRIIGED SPSRLDRGRE 1260 DSLPKGHVIY EGKKGHVLSY EGGMSVTQCS KEDGRSSSGP PHETAAPKRT YDMMEGRVGR 1320 AISSASIEGL MGRAIPPERH SPHHLKEQHH IRGSITQGIP RSYVEAQEDY LRREAKLLKR 1380 EGTPPPPPPS RDLTEAYKTQ ALGPLKLKPA HEGLVATVKE AGRSIHEIPR EELRHTPELP 1440 LAPRPLKEGS ITQGTPLKYD TGASTTGSKK HDVRSLIGSP GRTFPPVHPL DVMADARALE 1500 RACYEESLKS RPGTASSSGG SIARGAPVIV PELGKPRQSP LTYEDHGAPF AGHLPRGSPV 1560 TTREPTPRLQ EGSLSSSKAS QDRKLTSTPR EIAKSPHSTV PEHHPHPISP YEHLLRGVSG 1620 VDLYRSHIPL AFDPTSIPRG IPLDAAAAYY LPRHLAPNPT YPHLYPPYLI RGYPDTAALE 1680 NRQTIINDYI TSQQMHHNAA TAMAQRADML RGLSPRESSL ALNYAAGPRG IIDLSQVPHL 1740 PVLVPPTPGT PATAMDRLAY LPTAPQPFSS RHSSSPLSPG GPTHLTKPTT TSSSERERDR 1800 DRERDRDRER EKSILTSTTT VEHAPIWRPG TEQSSGSSGG GGGSSSRPAS HSHAHQHSPI 1860 SPRTQDALQQ RPSVLHNTGM KGIITAVEPS TPTVLRSTST SSPVRPAATF PPATHCPLGG 1920 TLDGVYPTLM EPVLLPKEAP RVARPERPRA DTGHAFLAKP PARSGLEPAS SPSKGSEPRP 1980 LVPPVSGHAT IARTPAKNLA PHHASPDPPA PPASASDPHR EKTQSKPFSI QELELRSLGY 2040 HGSSYSPEGV EPVSPVSSPS LTHDKGLPKH LEELDKSHLE GELRPKQPGP VKLGGEAAHL 2100 PHLRPLPESQ PSSSPLLQTA PGVKGHQRVV TLAQHISEVI TQDYTRHHPQ QLSAPLPAPL 2160 YSFPGASCPV LDLRRPPSDL YLPPPDHGAP ARGSPHSEGG KRSPEPNKTS VLGGGEDGIE 2220 PVSPPEGMTE PGHSRSAVYP LLYRDGEQTE PSRMGSKSPG NTSQPPAFFS KLTESNSAMV 2280 KSKKQEINKK LNTHNRNEPE YNISQPGTEI FNMPAITGTG LMTYRSQAVQ EHASTNMGLE 2340 AIIRKALMGK YDQWEESPPL SANAFNPLNA SASLPAAMPI TAADGRSDHT LTSPGGGGKA 2400 KVSGRPSSRK AKSPAPGLAS GDRPPSVSSV HSEGDCNRRT PLTNRVWEDR PSSAGSTPFP 2460 YNPLIMRLQA GVMASPPPPG LPAGSGPLAG PHHAWDEEPK PLLCSQYETL SDSE 2514

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

PDB ID
1KKQ
1R2B
1XC5
2GPV
2L5G
2LTP
2ODD
2RT5
3R29
3R2A
4A69
4OAR
5X8Q
5X8X
5ZOO
5ZOP
6A22
6IVX
6PDZ
1R2B
1XC5
2L5G
2LTP
2ODD
4A69
5X8Q
5ZOO

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	NCOR2		A0A452E1G4		Capra hircus	Prediction	More>>
1:1 ortholog	NCOR2	9612	Q9Y618		Homo sapiens	Prediction	More>>
1:1 ortholog	Ncor2	20602	Q9WU42	CPO	Mus musculus	Publication	More>>
1:1 ortholog	NCOR2		H2RC84		Pan troglodytes	Prediction	More>>
1:1 ortholog	Ncor2	360801	D3ZXN9		Rattus norvegicus	Prediction	More>>
1:1 ortholog	ncor2		F1R8Z8		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs200569241	p.Ser2Leu	missense variant	-	NC_000012.12:g.124495247G>A	ESP,ExAC,TOPMed,gnomAD
rs762333827	p.Gly3Glu	missense variant	-	NC_000012.12:g.124495244C>T	ExAC,gnomAD
rs1208945179	p.Ser4Pro	missense variant	-	NC_000012.12:g.124495242A>G	TOPMed
rs775831112	p.Thr5Ile	missense variant	-	NC_000012.12:g.124495238G>A	ExAC,gnomAD
rs763323535	p.Thr5Ala	missense variant	-	NC_000012.12:g.124495239T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro7Leu	missense variant	-	NC_000012.12:g.124495232G>A	NCI-TCGA
rs373302441	p.Thr11Lys	missense variant	-	NC_000012.12:g.124495220G>T	ESP,ExAC,TOPMed,gnomAD
rs373302441	p.Thr11Met	missense variant	-	NC_000012.12:g.124495220G>A	ESP,ExAC,TOPMed,gnomAD
rs1304761033	p.Trp12Leu	missense variant	-	NC_000012.12:g.124495217C>A	TOPMed,gnomAD
rs777329543	p.Ala14Val	missense variant	-	NC_000012.12:g.124495211G>A	ExAC,gnomAD
rs374998878	p.Thr15Ile	missense variant	-	NC_000012.12:g.124495208G>A	ESP,ExAC,TOPMed,gnomAD
rs1467629709	p.Glu16Lys	missense variant	-	NC_000012.12:g.124495206C>T	gnomAD
rs747850930	p.Glu16Gly	missense variant	-	NC_000012.12:g.124495205T>C	ExAC,gnomAD
rs754623421	p.Pro17Leu	missense variant	-	NC_000012.12:g.124495202G>A	ExAC,gnomAD
rs199718897	p.Pro17Ser	missense variant	-	NC_000012.12:g.124495203G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs561460980	p.Arg18His	missense variant	-	NC_000012.12:g.124495199C>T	1000Genomes,TOPMed,gnomAD
rs369571536	p.Arg18Cys	missense variant	-	NC_000012.12:g.124495200G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781563222	p.Tyr19Phe	missense variant	-	NC_000012.12:g.124495196T>A	ExAC,gnomAD
rs757710006	p.Pro20Leu	missense variant	-	NC_000012.12:g.124495193G>A	ExAC,TOPMed,gnomAD
rs1171302955	p.Pro20Ser	missense variant	-	NC_000012.12:g.124495194G>A	TOPMed
rs1318524788	p.His22Gln	missense variant	-	NC_000012.12:g.124495186G>T	gnomAD
rs1250636824	p.Ser23Thr	missense variant	-	NC_000012.12:g.124495184C>G	gnomAD
rs764315767	p.Leu24Phe	missense variant	-	NC_000012.12:g.124495182G>A	ExAC,gnomAD
rs1315158078	p.Ser25Cys	missense variant	-	NC_000012.12:g.124495178G>C	gnomAD
rs1382579427	p.Pro27Thr	missense variant	-	NC_000012.12:g.124495173G>T	gnomAD
rs752783314	p.Ile30Val	missense variant	-	NC_000012.12:g.124495164T>C	ExAC,gnomAD
rs373785990	p.Ala31Thr	missense variant	-	NC_000012.12:g.124495161C>T	ESP,ExAC,TOPMed,gnomAD
rs373785990	p.Ala31Ser	missense variant	-	NC_000012.12:g.124495161C>A	ESP,ExAC,TOPMed,gnomAD
rs1460050325	p.Arg32Gly	missense variant	-	NC_000012.12:g.124495158G>C	TOPMed,gnomAD
rs1460050325	p.Arg32Trp	missense variant	-	NC_000012.12:g.124495158G>A	TOPMed,gnomAD
rs371730972	p.Thr33Met	missense variant	-	NC_000012.12:g.124495154G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762430257	p.Thr35Met	missense variant	-	NC_000012.12:g.124495148G>A	ExAC,TOPMed,gnomAD
rs747399088	p.Val37Ile	missense variant	-	NC_000012.12:g.124486565C>T	ExAC,gnomAD
rs111807999	p.Val37Ala	missense variant	-	NC_000012.12:g.124486564A>G	gnomAD
rs747399088	p.Val37Phe	missense variant	-	NC_000012.12:g.124486565C>A	ExAC,gnomAD
rs577336820	p.Gly38Trp	missense variant	-	NC_000012.12:g.124486562C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs577336820	p.Gly38Arg	missense variant	-	NC_000012.12:g.124486562C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu39Arg	missense variant	-	NC_000012.12:g.124486558A>C	NCI-TCGA
rs1246473977	p.Leu40Pro	missense variant	-	NC_000012.12:g.124486555A>G	gnomAD
rs1266832580	p.Ser46Phe	missense variant	-	NC_000012.12:g.124486537G>A	gnomAD
rs756284508	p.Arg47Leu	missense variant	-	NC_000012.12:g.124486534C>A	ExAC,TOPMed,gnomAD
rs766657678	p.Arg47Gly	missense variant	-	NC_000012.12:g.124486535G>C	ExAC,TOPMed,gnomAD
rs766657678	p.Arg47Cys	missense variant	-	NC_000012.12:g.124486535G>A	ExAC,TOPMed,gnomAD
rs756284508	p.Arg47His	missense variant	-	NC_000012.12:g.124486534C>T	ExAC,TOPMed,gnomAD
rs761058810	p.Asp48Asn	missense variant	-	NC_000012.12:g.124486532C>T	TOPMed,gnomAD
rs1264353674	p.Tyr49Cys	missense variant	-	NC_000012.12:g.124486528T>C	TOPMed,gnomAD
rs114258960	p.His52Arg	missense variant	-	NC_000012.12:g.124486519T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs924837078	p.His52Tyr	missense variant	-	NC_000012.12:g.124486520G>A	TOPMed,gnomAD
rs965643637	p.Ser54Leu	missense variant	-	NC_000012.12:g.124486513G>A	TOPMed
rs763550166	p.Gly56Arg	missense variant	-	NC_000012.12:g.124486508C>G	ExAC,gnomAD
rs763550166	p.Gly56Ser	missense variant	-	NC_000012.12:g.124486508C>T	ExAC,gnomAD
rs866644641	p.Ser57Phe	missense variant	-	NC_000012.12:g.124486504G>A	gnomAD
rs1406504059	p.Ser57Ala	missense variant	-	NC_000012.12:g.124486505A>C	gnomAD
rs1427366386	p.Ile58Val	missense variant	-	NC_000012.12:g.124486502T>C	TOPMed,gnomAD
rs762554549	p.Ile58Asn	missense variant	-	NC_000012.12:g.124486501A>T	ExAC,TOPMed,gnomAD
rs372528448	p.Ile59Met	missense variant	-	NC_000012.12:g.124486497G>C	ESP,gnomAD
rs201755012	p.Gln60Pro	missense variant	-	NC_000012.12:g.124486495T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1264128606	p.Arg63Gln	missense variant	-	NC_000012.12:g.124486486C>T	gnomAD
rs1425936508	p.Arg64Trp	missense variant	-	NC_000012.12:g.124486484G>A	TOPMed,gnomAD
rs897767141	p.Arg64Gln	missense variant	-	NC_000012.12:g.124486483C>T	TOPMed,gnomAD
rs745442376	p.Arg65Lys	missense variant	-	NC_000012.12:g.124486480C>T	ExAC,gnomAD
rs773776074	p.Pro66Leu	missense variant	-	NC_000012.12:g.124486477G>A	ExAC,gnomAD
rs1472611057	p.Ser67Thr	missense variant	-	NC_000012.12:g.124486475A>T	gnomAD
rs1383325118	p.Pro74Leu	missense variant	-	NC_000012.12:g.124486453G>A	gnomAD
rs755402351	p.Gly75Arg	missense variant	-	NC_000012.12:g.124486451C>T	ExAC,TOPMed,gnomAD
rs755402351	p.Gly75Arg	missense variant	-	NC_000012.12:g.124486451C>G	ExAC,TOPMed,gnomAD
COSM936761	p.Glu77Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124486444T>G	NCI-TCGA Cosmic
rs1402406017	p.Arg78Trp	missense variant	-	NC_000012.12:g.124486442G>A	gnomAD
rs749690893	p.Gln80Arg	missense variant	-	NC_000012.12:g.124483768T>C	ExAC,gnomAD
rs749690893	p.Gln80Pro	missense variant	-	NC_000012.12:g.124483768T>G	ExAC,gnomAD
rs780179306	p.Glu81Lys	missense variant	-	NC_000012.12:g.124483766C>T	ExAC,TOPMed,gnomAD
rs769854774	p.Leu82Phe	missense variant	-	NC_000012.12:g.124483763G>A	ExAC,gnomAD
rs908046844	p.His83Tyr	missense variant	-	NC_000012.12:g.124483760G>A	TOPMed
rs149366660	p.Arg85Trp	missense variant	-	NC_000012.12:g.124483754G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs781420966	p.Arg85Gln	missense variant	-	NC_000012.12:g.124483753C>T	ExAC,TOPMed,gnomAD
rs200140245	p.Pro86Ser	missense variant	-	NC_000012.12:g.124483751G>A	ESP,ExAC,TOPMed,gnomAD
rs751379995	p.His89Tyr	missense variant	-	NC_000012.12:g.124483742G>A	ExAC,gnomAD
COSM1299097	p.Ser90Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.124483738G>C	NCI-TCGA Cosmic
rs896568062	p.Leu92Gln	missense variant	-	NC_000012.12:g.124483732A>T	TOPMed
rs758428234	p.Glu94Gln	missense variant	-	NC_000012.12:g.124483727C>G	ExAC,TOPMed,gnomAD
rs758428234	p.Glu94Lys	missense variant	-	NC_000012.12:g.124483727C>T	ExAC,TOPMed,gnomAD
rs764887804	p.Leu95Val	missense variant	-	NC_000012.12:g.124483724G>C	ExAC,TOPMed,gnomAD
rs766153237	p.Gly96Val	missense variant	-	NC_000012.12:g.124483720C>A	ExAC,gnomAD
rs376765933	p.Gly96Trp	missense variant	-	NC_000012.12:g.124483721C>A	ESP,ExAC,TOPMed,gnomAD
rs376765933	p.Gly96Arg	missense variant	-	NC_000012.12:g.124483721C>T	ESP,ExAC,TOPMed,gnomAD
rs766153237	p.Gly96Glu	missense variant	-	NC_000012.12:g.124483720C>T	ExAC,gnomAD
COSM1359941	p.Lys97Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124483717T>G	NCI-TCGA Cosmic
rs1196929193	p.Ile103Thr	missense variant	-	NC_000012.12:g.124483699A>G	gnomAD
rs865782027	p.Ile103Val	missense variant	-	NC_000012.12:g.124483700T>C	TOPMed,gnomAD
rs183845640	p.Ser105Gly	missense variant	-	NC_000012.12:g.124483694T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs201210769	p.Ser105Asn	missense variant	-	NC_000012.12:g.124483693C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs986750179	p.Arg107Ser	missense variant	-	NC_000012.12:g.124483688G>T	TOPMed,gnomAD
rs986750179	p.Arg107Cys	missense variant	-	NC_000012.12:g.124483688G>A	TOPMed,gnomAD
rs1372001604	p.Arg107Pro	missense variant	-	NC_000012.12:g.124483687C>G	TOPMed
rs1372001604	p.Arg107His	missense variant	-	NC_000012.12:g.124483687C>T	TOPMed
NCI-TCGA novel	p.Glu111Ter	stop gained	-	NC_000012.12:g.124483676C>A	NCI-TCGA
rs544682654	p.Leu112Val	missense variant	-	NC_000012.12:g.124483673G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1282716507	p.Pro114Leu	missense variant	-	NC_000012.12:g.124483666G>A	gnomAD
rs781188511	p.Pro116Thr	missense variant	-	NC_000012.12:g.124483661G>T	ExAC,TOPMed,gnomAD
rs781188511	p.Pro116Ser	missense variant	-	NC_000012.12:g.124483661G>A	ExAC,TOPMed,gnomAD
rs781188511	p.Pro116Ala	missense variant	-	NC_000012.12:g.124483661G>C	ExAC,TOPMed,gnomAD
rs1237994045	p.Arg119Gln	missense variant	-	NC_000012.12:g.124483651C>T	TOPMed,gnomAD
rs569394523	p.Pro120Arg	missense variant	-	NC_000012.12:g.124483648G>C	ExAC,TOPMed,gnomAD
rs569394523	p.Pro120Leu	missense variant	-	NC_000012.12:g.124483648G>A	ExAC,TOPMed,gnomAD
rs1386886117	p.Ser121Leu	missense variant	-	NC_000012.12:g.124483645G>A	gnomAD
rs1211294271	p.Pro122Ser	missense variant	-	NC_000012.12:g.124483643G>A	TOPMed
rs779023919	p.Ala125Thr	missense variant	-	NC_000012.12:g.124483634C>T	ExAC,gnomAD
rs372180570	p.Thr126Met	missense variant	-	NC_000012.12:g.124483630G>A	ESP,ExAC,TOPMed,gnomAD
rs372180570	p.Thr126Lys	missense variant	-	NC_000012.12:g.124483630G>T	ESP,ExAC,TOPMed,gnomAD
rs753414112	p.Gly127Arg	missense variant	-	NC_000012.12:g.124483628C>G	ExAC,gnomAD
rs1244732336	p.Gly127Asp	missense variant	-	NC_000012.12:g.124483627C>T	gnomAD
rs368362328	p.Ala130Gly	missense variant	-	NC_000012.12:g.124483618G>C	ESP,ExAC,TOPMed,gnomAD
rs368362328	p.Ala130Val	missense variant	-	NC_000012.12:g.124483618G>A	ESP,ExAC,TOPMed,gnomAD
rs1231185993	p.Gly131Val	missense variant	-	NC_000012.12:g.124483615C>A	gnomAD
rs1261110432	p.Gly131Arg	missense variant	-	NC_000012.12:g.124483616C>T	gnomAD
rs763199893	p.Glu133Lys	missense variant	-	NC_000012.12:g.124483610C>T	ExAC,TOPMed,gnomAD
rs1395262641	p.Glu133Asp	missense variant	-	NC_000012.12:g.124483608T>G	TOPMed
rs1296626232	p.Asp134Asn	missense variant	-	NC_000012.12:g.124483607C>T	gnomAD
rs775794647	p.Leu135Phe	missense variant	-	NC_000012.12:g.124483604G>A	ExAC,gnomAD
COSM5163763	p.Asp138Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124473131C>A	NCI-TCGA Cosmic
rs1195324444	p.Asp138Asn	missense variant	-	NC_000012.12:g.124473131C>T	gnomAD
rs760699130	p.Arg139Cys	missense variant	-	NC_000012.12:g.124473128G>A	ExAC,TOPMed,gnomAD
rs370453736	p.Thr142Met	missense variant	-	NC_000012.12:g.124473118G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1469580545	p.Gly143Asp	missense variant	-	NC_000012.12:g.124473115C>T	TOPMed
rs1175211448	p.Leu145Val	missense variant	-	NC_000012.12:g.124473110G>C	TOPMed
rs370010899	p.Leu145Arg	missense variant	-	NC_000012.12:g.124473109A>C	ESP,ExAC,TOPMed,gnomAD
rs1336883854	p.Glu146Lys	missense variant	-	NC_000012.12:g.124473107C>T	gnomAD
rs1336883854	p.Glu146Gln	missense variant	-	NC_000012.12:g.124473107C>G	gnomAD
rs749292036	p.Pro147Ser	missense variant	-	NC_000012.12:g.124473104G>A	ExAC,gnomAD
rs200539242	p.Pro147Leu	missense variant	-	NC_000012.12:g.124473103G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs745394403	p.Val148Leu	missense variant	-	NC_000012.12:g.124473101C>A	ExAC,TOPMed,gnomAD
rs745394403	p.Val148Leu	missense variant	-	NC_000012.12:g.124473101C>G	ExAC,TOPMed,gnomAD
rs1423604689	p.Ser149Cys	missense variant	-	NC_000012.12:g.124473097G>C	gnomAD
NCI-TCGA novel	p.Pro150SerPheSerTerUnk	frameshift	-	NC_000012.12:g.124473095_124473096insA	NCI-TCGA
rs780684804	p.Pro150Ala	missense variant	-	NC_000012.12:g.124473095G>C	ExAC,gnomAD
rs780684804	p.Pro150Ser	missense variant	-	NC_000012.12:g.124473095G>A	ExAC,gnomAD
rs1363189329	p.Ser152Ile	missense variant	-	NC_000012.12:g.124473088C>A	gnomAD
COSM5128165	p.Ser152AlaPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.124473090G>-	NCI-TCGA Cosmic
rs755303590	p.Pro153Ser	missense variant	-	NC_000012.12:g.124473086G>A	ExAC,TOPMed,gnomAD
rs755303590	p.Pro153Thr	missense variant	-	NC_000012.12:g.124473086G>T	ExAC,TOPMed,gnomAD
rs372814794	p.Pro153Arg	missense variant	-	NC_000012.12:g.124473085G>C	ESP,ExAC,TOPMed,gnomAD
rs372814794	p.Pro153Leu	missense variant	-	NC_000012.12:g.124473085G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro154Thr	missense variant	-	NC_000012.12:g.124473083G>T	NCI-TCGA
rs369337188	p.Pro154Gln	missense variant	-	NC_000012.12:g.124473082G>T	ESP,ExAC,TOPMed,gnomAD
rs369337188	p.Pro154Leu	missense variant	-	NC_000012.12:g.124473082G>A	ESP,ExAC,TOPMed,gnomAD
rs1000023697	p.His155Asn	missense variant	-	NC_000012.12:g.124473080G>T	TOPMed
rs1220400844	p.Asp157Gly	missense variant	-	NC_000012.12:g.124473073T>C	TOPMed
rs1490248866	p.Glu159Val	missense variant	-	NC_000012.12:g.124473067T>A	gnomAD
rs1437097444	p.Glu159Gln	missense variant	-	NC_000012.12:g.124473068C>G	TOPMed
rs767701462	p.Glu161Asp	missense variant	-	NC_000012.12:g.124473060C>G	ExAC,gnomAD
rs748959229	p.Pro164Leu	missense variant	-	NC_000012.12:g.124473052G>A	ExAC,gnomAD
rs1483248593	p.Pro164Ser	missense variant	-	NC_000012.12:g.124473053G>A	TOPMed
rs768616938	p.Arg166Trp	missense variant	-	NC_000012.12:g.124473047G>A	NCI-TCGA,NCI-TCGA Cosmic
rs762874996	p.Arg166Gln	missense variant	-	NC_000012.12:g.124473046C>T	ExAC,TOPMed,gnomAD
rs768616938	p.Arg166Trp	missense variant	-	NC_000012.12:g.124473047G>A	ExAC,gnomAD
rs769620607	p.Leu167Pro	missense variant	-	NC_000012.12:g.124473043A>G	ExAC,gnomAD
rs1329022685	p.Ser168Ala	missense variant	-	NC_000012.12:g.124473041A>C	gnomAD
rs780620993	p.Ile173Val	missense variant	-	NC_000012.12:g.124473026T>C	ExAC,TOPMed,gnomAD
rs200310339	p.Asn175Ser	missense variant	-	NC_000012.12:g.124473019T>C	ESP,ExAC,TOPMed,gnomAD
rs1470912499	p.Arg178Cys	missense variant	-	NC_000012.12:g.124473011G>A	TOPMed,gnomAD
rs369807577	p.Arg178His	missense variant	-	NC_000012.12:g.124473010C>T	ESP,ExAC,TOPMed,gnomAD
rs369807577	p.Arg178His	missense variant	-	NC_000012.12:g.124473010C>T	NCI-TCGA
rs369121940	p.Val179Met	missense variant	-	NC_000012.12:g.124473008C>T	gnomAD
NCI-TCGA novel	p.Asp180Asn	missense variant	-	NC_000012.12:g.124473005C>T	NCI-TCGA
rs1245228716	p.Arg181Gln	missense variant	-	NC_000012.12:g.124473001C>T	gnomAD
rs1245228716	p.Arg181Gln	missense variant	-	NC_000012.12:g.124473001C>T	NCI-TCGA
rs1343186928	p.Glu182Gln	missense variant	-	NC_000012.12:g.124472999C>G	TOPMed
rs754166329	p.Val186Leu	missense variant	-	NC_000012.12:g.124472987C>G	ExAC,gnomAD
rs754166329	p.Val186Ile	missense variant	-	NC_000012.12:g.124472987C>T	ExAC,gnomAD
rs756647686	p.Ile190Val	missense variant	-	NC_000012.12:g.124472975T>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys192Ter	frameshift	-	NC_000012.12:g.124472969_124472970insA	NCI-TCGA
rs181340852	p.Lys192Asn	missense variant	-	NC_000012.12:g.124472967C>G	1000Genomes,ExAC,gnomAD
rs1275148604	p.Lys196Gln	missense variant	-	NC_000012.12:g.124472957T>G	TOPMed
rs1264246876	p.Gln197Glu	missense variant	-	NC_000012.12:g.124472954G>C	gnomAD
rs1472097378	p.Glu202Lys	missense variant	-	NC_000012.12:g.124466274C>T	TOPMed,gnomAD
rs1161801886	p.Glu203Gly	missense variant	-	NC_000012.12:g.124466270T>C	TOPMed
rs1204628593	p.Ala205Thr	missense variant	-	NC_000012.12:g.124466265C>T	gnomAD
rs1360133266	p.Ala205Val	missense variant	-	NC_000012.12:g.124466264G>A	TOPMed,gnomAD
rs776360455	p.Pro207Leu	missense variant	-	NC_000012.12:g.124466258G>A	ExAC,TOPMed,gnomAD
rs776360455	p.Pro207Leu	missense variant	-	NC_000012.12:g.124466258G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1457407707	p.Pro207Ser	missense variant	-	NC_000012.12:g.124466259G>A	TOPMed
rs1288872099	p.Pro208Leu	missense variant	-	NC_000012.12:g.124466255G>A	gnomAD
rs1284319754	p.Pro210Ser	missense variant	-	NC_000012.12:g.124466250G>A	TOPMed
rs747804626	p.Lys212Arg	missense variant	-	NC_000012.12:g.124466243T>C	ExAC,TOPMed,gnomAD
rs1443072498	p.Pro213Ser	missense variant	-	NC_000012.12:g.124466241G>A	gnomAD
rs746271002	p.Val214Met	missense variant	-	NC_000012.12:g.124466238C>T	ExAC,gnomAD
rs746271002	p.Val214Leu	missense variant	-	NC_000012.12:g.124466238C>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro216Ser	missense variant	-	NC_000012.12:g.124466232G>A	NCI-TCGA
rs781644064	p.Pro216Leu	missense variant	-	NC_000012.12:g.124466231G>A	ExAC,gnomAD
rs199588853	p.Pro217Leu	missense variant	-	NC_000012.12:g.124466228G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs752679309	p.Ile219Val	missense variant	-	NC_000012.12:g.124466223T>C	ExAC,TOPMed,gnomAD
rs752679309	p.Ile219Phe	missense variant	-	NC_000012.12:g.124466223T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu220Lys	missense variant	-	NC_000012.12:g.124466220C>T	NCI-TCGA
rs1248969966	p.Ser221Leu	missense variant	-	NC_000012.12:g.124466216G>A	TOPMed,gnomAD
rs371138100	p.Arg224Cys	missense variant	-	NC_000012.12:g.124466208G>A	ESP,ExAC,TOPMed,gnomAD
rs760665839	p.Arg224Leu	missense variant	-	NC_000012.12:g.124466207C>A	ExAC,TOPMed,gnomAD
rs371138100	p.Arg224Ser	missense variant	-	NC_000012.12:g.124466208G>T	ESP,ExAC,TOPMed,gnomAD
rs760665839	p.Arg224His	missense variant	-	NC_000012.12:g.124466207C>T	ExAC,TOPMed,gnomAD
rs760665839	p.Arg224His	missense variant	-	NC_000012.12:g.124466207C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1171252497	p.Leu226Met	missense variant	-	NC_000012.12:g.124466202G>T	TOPMed
rs991784498	p.Ile229Met	missense variant	-	NC_000012.12:g.124466191G>C	TOPMed
COSM6135973	p.Asp232Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124466182G>C	NCI-TCGA Cosmic
rs1309785791	p.Glu233Val	missense variant	-	NC_000012.12:g.124466180T>A	TOPMed
rs768370735	p.Glu233Lys	missense variant	-	NC_000012.12:g.124466181C>T	ExAC,gnomAD
rs1293115131	p.Arg235Gln	missense variant	-	NC_000012.12:g.124466174C>T	gnomAD
rs1368596690	p.Arg235Trp	missense variant	-	NC_000012.12:g.124466175G>A	TOPMed,gnomAD
rs768701590	p.His242Arg	missense variant	-	NC_000012.12:g.124457143T>C	ExAC,TOPMed,gnomAD
rs754316117	p.Arg243Gln	missense variant	-	NC_000012.12:g.124457140C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly249Val	missense variant	-	NC_000012.12:g.124457122C>A	NCI-TCGA
COSM1359937	p.Gln251ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.124457117G>-	NCI-TCGA Cosmic
rs1181469280	p.Pro255Leu	missense variant	-	NC_000012.12:g.124449866G>A	gnomAD
rs1382631641	p.Pro260Leu	missense variant	-	NC_000012.12:g.124449851G>A	TOPMed
COSM3457845	p.Ser261Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124449848G>A	NCI-TCGA Cosmic
rs373082582	p.Ser261Cys	missense variant	-	NC_000012.12:g.124449848G>C	ESP,ExAC,gnomAD
rs1356048366	p.Asp262Asn	missense variant	-	NC_000012.12:g.124449846C>T	NCI-TCGA
rs1356048366	p.Asp262Asn	missense variant	-	NC_000012.12:g.124449846C>T	gnomAD
rs1235156046	p.Thr263Ala	missense variant	-	NC_000012.12:g.124449843T>C	TOPMed
rs369186073	p.Arg264Trp	missense variant	-	NC_000012.12:g.124449840G>A	ESP,ExAC,TOPMed,gnomAD
rs769854849	p.Arg264Gln	missense variant	-	NC_000012.12:g.124449839C>T	ExAC,TOPMed,gnomAD
COSM6135975	p.Gln265His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124449835C>A	NCI-TCGA Cosmic
rs1263074157	p.Asn269Asp	missense variant	-	NC_000012.12:g.124449825T>C	TOPMed
NCI-TCGA novel	p.Ile270Met	missense variant	-	NC_000012.12:g.124449820G>C	NCI-TCGA
rs1457280740	p.Ala275Val	missense variant	-	NC_000012.12:g.124437988G>A	TOPMed,gnomAD
rs753005802	p.Met276Thr	missense variant	-	NC_000012.12:g.124437985A>G	ExAC,gnomAD
rs959185861	p.Arg277Gln	missense variant	-	NC_000012.12:g.124437982C>T	gnomAD
rs959185861	p.Arg277Gln	missense variant	-	NC_000012.12:g.124437982C>T	NCI-TCGA
rs1364163584	p.Lys278Gln	missense variant	-	NC_000012.12:g.124437980T>G	gnomAD
rs760018486	p.Arg287Lys	missense variant	-	NC_000012.12:g.124437952C>T	ExAC,gnomAD
rs200885078	p.Ala290Thr	missense variant	-	NC_000012.12:g.124437944C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs761722450	p.Trp294Cys	missense variant	-	NC_000012.12:g.124437930C>G	ExAC,gnomAD
rs539839178	p.Trp294Arg	missense variant	-	NC_000012.12:g.124437932A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs537132974	p.Arg301Ser	missense variant	-	NC_000012.12:g.124430769G>T	ExAC,gnomAD
rs537132974	p.Arg301Cys	missense variant	-	NC_000012.12:g.124430769G>A	ExAC,gnomAD
rs970829281	p.Arg301His	missense variant	-	NC_000012.12:g.124430768C>T	TOPMed
NCI-TCGA novel	p.Asp303Glu	missense variant	-	NC_000012.12:g.124430761G>C	NCI-TCGA
rs1488717696	p.Ala308Thr	missense variant	-	NC_000012.12:g.124430748C>T	gnomAD
rs1219038857	p.Lys311Arg	missense variant	-	NC_000012.12:g.124430738T>C	gnomAD
rs749576073	p.Lys312Gln	missense variant	-	NC_000012.12:g.124430736T>G	ExAC,TOPMed,gnomAD
rs1012459312	p.Arg315His	missense variant	-	NC_000012.12:g.124430726C>T	TOPMed,gnomAD
rs780633770	p.Arg315Cys	missense variant	-	NC_000012.12:g.124430727G>A	ExAC,TOPMed,gnomAD
rs780633770	p.Arg315Ser	missense variant	-	NC_000012.12:g.124430727G>T	ExAC,TOPMed,gnomAD
rs1438939141	p.Pro320Leu	missense variant	-	NC_000012.12:g.124430711G>A	gnomAD
rs1316318132	p.Pro320Ala	missense variant	-	NC_000012.12:g.124430712G>C	TOPMed
rs1221147357	p.Arg321Trp	missense variant	-	NC_000012.12:g.124430709G>A	TOPMed,gnomAD
rs958151040	p.Arg321Gln	missense variant	-	NC_000012.12:g.124430708C>T	TOPMed,gnomAD
rs1439094688	p.Arg322Gln	missense variant	-	NC_000012.12:g.124430705C>T	TOPMed,gnomAD
rs750536452	p.Arg322Trp	missense variant	-	NC_000012.12:g.124430706G>A	ExAC,TOPMed,gnomAD
rs1321771144	p.Arg323Trp	missense variant	-	NC_000012.12:g.124430703G>A	gnomAD
rs757613317	p.Arg323Gln	missense variant	-	NC_000012.12:g.124430702C>T	ExAC,TOPMed,gnomAD
rs751787222	p.Ala324Val	missense variant	-	NC_000012.12:g.124430699G>A	ExAC,gnomAD
rs377627855	p.Ser327Thr	missense variant	-	NC_000012.12:g.124430690C>G	ESP,TOPMed
rs1417901373	p.Arg330His	missense variant	-	NC_000012.12:g.124430681C>T	TOPMed
rs762841482	p.Arg330Cys	missense variant	-	NC_000012.12:g.124430682G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu331Lys	missense variant	-	NC_000012.12:g.124430679C>T	NCI-TCGA
rs775085808	p.Glu334Gln	missense variant	-	NC_000012.12:g.124430670C>G	ExAC,gnomAD
rs1381383313	p.Gln336Arg	missense variant	-	NC_000012.12:g.124430663T>C	TOPMed
COSM5374582	p.Pro338Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124430658G>A	NCI-TCGA Cosmic
rs1183978827	p.Glu339Asp	missense variant	-	NC_000012.12:g.124430653C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Arg341AlaPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.124430649G>-	NCI-TCGA
rs867064743	p.Arg341His	missense variant	-	NC_000012.12:g.124430648C>T	TOPMed,gnomAD
rs1208020489	p.Arg341Cys	missense variant	-	NC_000012.12:g.124430649G>A	gnomAD
NCI-TCGA novel	p.Lys342Asn	missense variant	-	NC_000012.12:g.124430644C>A	NCI-TCGA
rs531830002	p.Arg344His	missense variant	-	NC_000012.12:g.124430639C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1449552478	p.Arg344Cys	missense variant	-	NC_000012.12:g.124430640G>A	TOPMed
rs1300797456	p.Glu348Lys	missense variant	-	NC_000012.12:g.124430628C>T	gnomAD
COSM4039937	p.Arg349His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124430624C>T	NCI-TCGA Cosmic
rs762502521	p.Arg349Cys	missense variant	-	NC_000012.12:g.124430625G>A	ExAC,gnomAD
rs1367764675	p.Met350Val	missense variant	-	NC_000012.12:g.124430622T>C	gnomAD
rs1367764675	p.Met350Leu	missense variant	-	NC_000012.12:g.124430622T>G	gnomAD
rs1290913815	p.Arg353Lys	missense variant	-	NC_000012.12:g.124429704C>T	gnomAD
NCI-TCGA novel	p.Val354Ala	missense variant	-	NC_000012.12:g.124429701A>G	NCI-TCGA
rs1229644129	p.Val354Leu	missense variant	-	NC_000012.12:g.124429702C>A	gnomAD
rs369543497	p.Arg357Gln	missense variant	-	NC_000012.12:g.124429692C>T	ESP,ExAC,TOPMed,gnomAD
rs753580805	p.Gly358Ser	missense variant	-	NC_000012.12:g.124429690C>T	ExAC,TOPMed,gnomAD
rs1250477540	p.Ser359Cys	missense variant	-	NC_000012.12:g.124429687T>A	TOPMed
rs766316741	p.Ser362Tyr	missense variant	-	NC_000012.12:g.124429677G>T	ExAC,gnomAD
rs766316741	p.Ser362Phe	missense variant	-	NC_000012.12:g.124429677G>A	ExAC,gnomAD
rs374997895	p.Met363Thr	missense variant	-	NC_000012.12:g.124429674A>G	ESP,ExAC,TOPMed,gnomAD
rs1415516579	p.Ser364Leu	missense variant	-	NC_000012.12:g.124429671G>A	gnomAD
rs550727654	p.Ala366Thr	missense variant	-	NC_000012.12:g.124429666C>T	ExAC,TOPMed,gnomAD
rs550727654	p.Ala366Ser	missense variant	-	NC_000012.12:g.124429666C>A	ExAC,TOPMed,gnomAD
rs371830068	p.Arg367His	missense variant	-	NC_000012.12:g.124429662C>T	ESP,ExAC,TOPMed,gnomAD
rs760004960	p.Arg367Ser	missense variant	-	NC_000012.12:g.124429663G>T	ExAC,gnomAD
rs760004960	p.Arg367Cys	missense variant	-	NC_000012.12:g.124429663G>A	ExAC,gnomAD
rs369539019	p.Ser368Arg	missense variant	-	NC_000012.12:g.124429658G>T	ESP,ExAC,TOPMed,gnomAD
rs1210754520	p.Glu369Lys	missense variant	-	NC_000012.12:g.124429657C>T	gnomAD
rs1271776617	p.Glu371Lys	missense variant	-	NC_000012.12:g.124429651C>T	gnomAD
rs1444269535	p.Glu374Asp	missense variant	-	NC_000012.12:g.124429640C>G	TOPMed
rs1329209107	p.Ile376Val	missense variant	-	NC_000012.12:g.124429636T>C	gnomAD
rs1236424415	p.Asp377His	missense variant	-	NC_000012.12:g.124429633C>G	TOPMed,gnomAD
rs1236424415	p.Asp377Asn	missense variant	-	NC_000012.12:g.124429633C>T	TOPMed,gnomAD
rs1038097336	p.Asp377Gly	missense variant	-	NC_000012.12:g.124429632T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gly378Cys	missense variant	-	NC_000012.12:g.124429630C>A	NCI-TCGA
NCI-TCGA novel	p.Leu379Phe	missense variant	-	NC_000012.12:g.124429627G>A	NCI-TCGA
rs772011833	p.Leu379Pro	missense variant	-	NC_000012.12:g.124429626A>G	ExAC,gnomAD
rs1301734474	p.Leu379Ile	missense variant	-	NC_000012.12:g.124429627G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Glu381AlaPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.124429619_124429620CT>-	NCI-TCGA
rs748184789	p.Glu381Gln	missense variant	-	NC_000012.12:g.124429621C>G	ExAC,gnomAD
rs199934660	p.Glu381Asp	missense variant	-	NC_000012.12:g.124429619C>A	ESP,ExAC,TOPMed,gnomAD
rs1458941088	p.Gln382Lys	missense variant	-	NC_000012.12:g.124429618G>T	gnomAD
rs889452363	p.Gln382Arg	missense variant	-	NC_000012.12:g.124429617T>C	TOPMed,gnomAD
rs753634343	p.Gln382His	missense variant	-	NC_000012.12:g.124429616C>G	ExAC,TOPMed,gnomAD
rs781019577	p.Leu385Gln	missense variant	-	NC_000012.12:g.124426796A>T	ExAC,gnomAD
rs781019577	p.Leu385Pro	missense variant	-	NC_000012.12:g.124426796A>G	ExAC,gnomAD
COSM4039933	p.Arg390Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124426782G>A	NCI-TCGA Cosmic
rs757147747	p.Arg390His	missense variant	-	NC_000012.12:g.124426781C>T	ExAC,TOPMed,gnomAD
rs1373806269	p.Arg390Gly	missense variant	-	NC_000012.12:g.124426782G>C	gnomAD
rs371462963	p.Gln391Pro	missense variant	-	NC_000012.12:g.124426778T>G	ESP,ExAC,TOPMed,gnomAD
rs752378493	p.Pro396Leu	missense variant	-	NC_000012.12:g.124426763G>A	ExAC,TOPMed,gnomAD
rs1186528534	p.Met398Lys	missense variant	-	NC_000012.12:g.124426757A>T	gnomAD
NCI-TCGA novel	p.Asp401Asn	missense variant	-	NC_000012.12:g.124426749C>T	NCI-TCGA
rs1320059043	p.Ala402Thr	missense variant	-	NC_000012.12:g.124426746C>T	TOPMed,gnomAD
rs1436997428	p.Gln404Arg	missense variant	-	NC_000012.12:g.124426739T>C	TOPMed,gnomAD
rs760978346	p.Gln404Lys	missense variant	-	NC_000012.12:g.124426740G>T	ExAC,TOPMed,gnomAD
rs1401404455	p.Arg406His	missense variant	-	NC_000012.12:g.124426733C>T	gnomAD
rs552072410	p.Lys408Met	missense variant	-	NC_000012.12:g.124426727T>A	1000Genomes,ExAC,gnomAD
rs1229958719	p.Lys408Asn	missense variant	-	NC_000012.12:g.124426726C>A	gnomAD
rs1367699862	p.Ile410Ser	missense variant	-	NC_000012.12:g.124426721A>C	TOPMed
rs1356883032	p.Met412Ile	missense variant	-	NC_000012.12:g.124426714C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gly414Arg	missense variant	-	NC_000012.12:g.124426710C>T	NCI-TCGA
rs375303038	p.Leu415Phe	missense variant	-	NC_000012.12:g.124426707G>A	ESP
rs559965106	p.Met416Ile	missense variant	-	NC_000012.12:g.124426702C>T	1000Genomes,ExAC,gnomAD
rs866912317	p.Ala417Val	missense variant	-	NC_000012.12:g.124426700G>A	-
NCI-TCGA novel	p.Asp418His	missense variant	-	NC_000012.12:g.124426698C>G	NCI-TCGA
rs1019445670	p.Met420Ile	missense variant	-	NC_000012.12:g.124426690C>T	gnomAD
rs1310061215	p.Met420Val	missense variant	-	NC_000012.12:g.124426692T>C	TOPMed,gnomAD
rs1310061215	p.Met420Leu	missense variant	-	NC_000012.12:g.124426692T>G	TOPMed,gnomAD
rs1327190438	p.Val422Met	missense variant	-	NC_000012.12:g.124426686C>T	gnomAD
rs370836867	p.Tyr423Cys	missense variant	-	NC_000012.12:g.124426682T>C	ESP,ExAC,TOPMed,gnomAD
rs768689373	p.Asp425His	missense variant	-	NC_000012.12:g.124426677C>G	ExAC,gnomAD
rs970975674	p.Arg426His	missense variant	-	NC_000012.12:g.124426673C>T	TOPMed
rs749558953	p.Arg426Cys	missense variant	-	NC_000012.12:g.124426674G>A	ExAC,TOPMed,gnomAD
rs377686687	p.Met431Arg	missense variant	-	NC_000012.12:g.124426658A>C	ESP,ExAC,TOPMed,gnomAD
rs745651245	p.Met431Leu	missense variant	-	NC_000012.12:g.124426659T>A	ExAC,TOPMed,gnomAD
COSM3457837	p.Trp432Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124426654C>A	NCI-TCGA Cosmic
rs1230968132	p.Ser433Ile	missense variant	-	NC_000012.12:g.124426652C>A	gnomAD
rs1290514759	p.Arg441Gln	missense variant	-	NC_000012.12:g.124426628C>T	gnomAD
rs1332749450	p.Arg441Trp	missense variant	-	NC_000012.12:g.124426629G>A	TOPMed,gnomAD
rs1024376821	p.Pro448Leu	missense variant	-	NC_000012.12:g.124422541G>A	TOPMed
COSM936748	p.Lys449Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124422537C>A	NCI-TCGA Cosmic
rs748696363	p.Gly452Asp	missense variant	-	NC_000012.12:g.124422529C>T	ExAC,gnomAD
rs755693513	p.Ile454Met	missense variant	-	NC_000012.12:g.124422522G>C	ExAC,TOPMed,gnomAD
rs151121805	p.Ala455Thr	missense variant	-	NC_000012.12:g.124422521C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs151121805	p.Ala455Ser	missense variant	-	NC_000012.12:g.124422521C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs543245239	p.Phe457Cys	missense variant	-	NC_000012.12:g.124422514A>C	1000Genomes,ExAC,gnomAD
rs754030327	p.Val467Ile	missense variant	-	NC_000012.12:g.124420040C>T	ExAC,TOPMed,gnomAD
rs754030327	p.Val467Ile	missense variant	-	NC_000012.12:g.124420040C>T	NCI-TCGA
COSM1359931	p.Leu468Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124420037G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr469Ter	stop gained	-	NC_000012.12:g.124420032A>C	NCI-TCGA
rs181837152	p.Tyr469Cys	missense variant	-	NC_000012.12:g.124420033T>C	1000Genomes
rs1230976926	p.Thr473Ile	missense variant	-	NC_000012.12:g.124420021G>A	TOPMed
NCI-TCGA novel	p.Lys475Arg	missense variant	-	NC_000012.12:g.124420015T>C	NCI-TCGA
rs773948596	p.Asn476Ser	missense variant	-	NC_000012.12:g.124420012T>C	ExAC,TOPMed,gnomAD
rs1249004129	p.Asn478Lys	missense variant	-	NC_000012.12:g.124420005G>C	TOPMed
NCI-TCGA novel	p.Tyr479Cys	missense variant	-	NC_000012.12:g.124420003T>C	NCI-TCGA
rs775044126	p.Ser481Ile	missense variant	-	NC_000012.12:g.124419997C>A	ExAC
rs769275779	p.Leu482Pro	missense variant	-	NC_000012.12:g.124419994A>G	ExAC,gnomAD
rs1489066227	p.Val483Glu	missense variant	-	NC_000012.12:g.124419991A>T	TOPMed
COSM1359927	p.Val483Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124419991A>G	NCI-TCGA Cosmic
rs1455558385	p.Tyr487Phe	missense variant	-	NC_000012.12:g.124419979T>A	gnomAD
rs1162807939	p.Tyr487His	missense variant	-	NC_000012.12:g.124419980A>G	gnomAD
COSM936746	p.Arg488Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124419976C>T	NCI-TCGA Cosmic
rs1364557381	p.Arg490His	missense variant	-	NC_000012.12:g.124419970C>T	TOPMed,gnomAD
rs1417679117	p.Gly491Ser	missense variant	-	NC_000012.12:g.124419968C>T	gnomAD
rs1317641001	p.Gln497Ter	stop gained	-	NC_000012.12:g.124402555G>A	gnomAD
rs745568149	p.Gln499GlnTerGln	stop gained	-	NC_000012.12:g.124402549_124402550insCTACTG	ExAC
NCI-TCGA novel	p.Gln500HisPheSerTerUnkUnkUnk	frameshift	-	NC_000012.12:g.124402544C>-	NCI-TCGA
NCI-TCGA novel	p.Gln500AlaPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.124402546_124402547GC>-	NCI-TCGA
rs369621213	p.Gln506His	missense variant	-	NC_000012.12:g.124402526C>G	ESP,ExAC,TOPMed,gnomAD
rs1359967774	p.Gln510Ter	stop gained	-	NC_000012.12:g.124402516G>A	gnomAD
rs572199383	p.Gln510Pro	missense variant	-	NC_000012.12:g.124402515T>G	1000Genomes,TOPMed,gnomAD
rs760242258	p.Pro511Ser	missense variant	-	NC_000012.12:g.124402513G>A	ExAC,gnomAD
rs768882087	p.Arg514His	missense variant	-	NC_000012.12:g.124402503C>T	ExAC,TOPMed,gnomAD
rs376621472	p.Arg514Cys	missense variant	-	NC_000012.12:g.124402504G>A	ESP,ExAC,TOPMed,gnomAD
rs768882087	p.Arg514His	missense variant	-	NC_000012.12:g.124402503C>T	NCI-TCGA,NCI-TCGA Cosmic
rs768882087	p.Arg514Leu	missense variant	-	NC_000012.12:g.124402503C>A	ExAC,TOPMed,gnomAD
rs376621472	p.Arg514Gly	missense variant	-	NC_000012.12:g.124402504G>C	ESP,ExAC,TOPMed,gnomAD
rs1215091375	p.Ser516Asn	missense variant	-	NC_000012.12:g.124402497C>T	gnomAD
rs780737127	p.Glu518Lys	missense variant	-	NC_000012.12:g.124402492C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu519Asp	missense variant	-	NC_000012.12:g.124402487C>A	NCI-TCGA
rs1294115747	p.Asp521Asn	missense variant	-	NC_000012.12:g.124402483C>T	gnomAD
rs745957297	p.Lys523Glu	missense variant	-	NC_000012.12:g.124402477T>C	ExAC,gnomAD
rs1411035519	p.Glu524Gly	missense variant	-	NC_000012.12:g.124402473T>C	TOPMed,gnomAD
rs1391192999	p.Glu524Gln	missense variant	-	NC_000012.12:g.124402474C>G	TOPMed
rs368778412	p.Ala529Thr	missense variant	-	NC_000012.12:g.124402459C>T	ESP,ExAC,gnomAD
rs376669119	p.Ala529Glu	missense variant	-	NC_000012.12:g.124402458G>T	ESP,ExAC,TOPMed,gnomAD
rs376669119	p.Ala529Val	missense variant	-	NC_000012.12:g.124402458G>A	ESP,ExAC,TOPMed,gnomAD
rs376669119	p.Ala529Glu	missense variant	-	NC_000012.12:g.124402458G>T	NCI-TCGA,NCI-TCGA Cosmic
rs376669119	p.Ala529Val	missense variant	-	NC_000012.12:g.124402458G>A	NCI-TCGA,NCI-TCGA Cosmic
COSM4932533	p.Glu532Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124402449T>A	NCI-TCGA Cosmic
rs972022362	p.Glu532Lys	missense variant	-	NC_000012.12:g.124402450C>T	TOPMed
NCI-TCGA novel	p.Lys535ArgPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.124402437_124402440GGCT>-	NCI-TCGA
rs200279477	p.Pro536Leu	missense variant	-	NC_000012.12:g.124402437G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1383534712	p.Glu537Lys	missense variant	-	NC_000012.12:g.124402435C>T	TOPMed
COSM5232836	p.Asn540LysPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.124402424G>-	NCI-TCGA Cosmic
rs765775462	p.Asp541Val	missense variant	-	NC_000012.12:g.124402422T>A	ExAC,TOPMed,gnomAD
rs765775462	p.Asp541Gly	missense variant	-	NC_000012.12:g.124402422T>C	ExAC,TOPMed,gnomAD
rs375316668	p.Asp541Asn	missense variant	-	NC_000012.12:g.124402423C>T	ESP,ExAC,TOPMed,gnomAD
rs760425318	p.Glu543Lys	missense variant	-	NC_000012.12:g.124402417C>T	ExAC,gnomAD
rs772760842	p.Asp544Glu	missense variant	-	NC_000012.12:g.124402412G>T	ExAC,gnomAD
rs1421416158	p.Asp544His	missense variant	-	NC_000012.12:g.124402414C>G	TOPMed,gnomAD
rs1223277043	p.Leu545Phe	missense variant	-	NC_000012.12:g.124402411G>A	TOPMed,gnomAD
rs771810282	p.Leu546His	missense variant	-	NC_000012.12:g.124402407A>T	ExAC,TOPMed,gnomAD
rs757008502	p.Asp552Tyr	missense variant	-	NC_000012.12:g.124400660C>A	ExAC,TOPMed,gnomAD
rs757008502	p.Asp552Asn	missense variant	-	NC_000012.12:g.124400660C>T	ExAC,TOPMed,gnomAD
COSM6071588	p.Ser554Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124400653G>A	NCI-TCGA Cosmic
COSM4039927	p.Glu560Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124400635T>C	NCI-TCGA Cosmic
rs201715042	p.Val564Met	missense variant	-	NC_000012.12:g.124400624C>T	ESP,ExAC,TOPMed,gnomAD
rs201715042	p.Val564Leu	missense variant	-	NC_000012.12:g.124400624C>G	ESP,ExAC,TOPMed,gnomAD
rs761242948	p.Arg569Cys	missense variant	-	NC_000012.12:g.124400609G>A	ExAC,gnomAD
rs1171678859	p.Ala572Val	missense variant	-	NC_000012.12:g.124400599G>A	gnomAD
rs1171678859	p.Ala572Val	missense variant	-	NC_000012.12:g.124400599G>A	NCI-TCGA
rs773321751	p.Ser574Ile	missense variant	-	NC_000012.12:g.124400593C>A	ExAC,TOPMed,gnomAD
rs1430162036	p.Ser574Gly	missense variant	-	NC_000012.12:g.124400594T>C	gnomAD
rs1187131215	p.Arg578His	missense variant	-	NC_000012.12:g.124400581C>T	gnomAD
rs1213531274	p.Arg581Leu	missense variant	-	NC_000012.12:g.124400572C>A	gnomAD
rs1261269062	p.Arg581Cys	missense variant	-	NC_000012.12:g.124400573G>A	TOPMed,gnomAD
rs748178736	p.Arg584Cys	missense variant	-	NC_000012.12:g.124400564G>A	ExAC,gnomAD
rs749048004	p.Ala587Thr	missense variant	-	NC_000012.12:g.124400555C>T	ExAC,gnomAD
rs1213438876	p.Asn591Ser	missense variant	-	NC_000012.12:g.124400542T>C	gnomAD
NCI-TCGA novel	p.Ser592Asn	missense variant	-	NC_000012.12:g.124400539C>T	NCI-TCGA
rs1261620947	p.Glu593Lys	missense variant	-	NC_000012.12:g.124400537C>T	TOPMed
rs1415238711	p.Ile596Phe	missense variant	-	NC_000012.12:g.124400528T>A	gnomAD
rs1415238711	p.Ile596Val	missense variant	-	NC_000012.12:g.124400528T>C	gnomAD
rs775726810	p.Thr597Asn	missense variant	-	NC_000012.12:g.124400524G>T	ExAC,TOPMed,gnomAD
rs756847310	p.Pro598Leu	missense variant	-	NC_000012.12:g.124400521G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln599SerPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.124400519G>-	NCI-TCGA
NCI-TCGA novel	p.Gln599ProPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.124400518_124400519insG	NCI-TCGA
COSM4039925	p.Gln599His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124400517C>A	NCI-TCGA Cosmic
rs751070423	p.Gln599Glu	missense variant	-	NC_000012.12:g.124400519G>C	ExAC,gnomAD
rs531851112	p.Gln600His	missense variant	-	NC_000012.12:g.124400514C>G	TOPMed
rs1475928442	p.Gln600Arg	missense variant	-	NC_000012.12:g.124400515T>C	TOPMed
rs1427975793	p.Ser601Gly	missense variant	-	NC_000012.12:g.124400513T>C	gnomAD
rs894152140	p.Ala602Thr	missense variant	-	NC_000012.12:g.124400510C>T	TOPMed,gnomAD
rs1161052785	p.Glu603Ala	missense variant	-	NC_000012.12:g.124400506T>G	TOPMed
rs1180432574	p.Glu603Asp	missense variant	-	NC_000012.12:g.124400505C>A	gnomAD
rs1257276484	p.Glu603Ter	stop gained	-	NC_000012.12:g.124400507C>A	gnomAD
rs775799345	p.Met607Val	missense variant	-	NC_000012.12:g.124398176T>C	ExAC,TOPMed,gnomAD
rs1364750453	p.Met607Ile	missense variant	-	NC_000012.12:g.124398174C>T	gnomAD
NCI-TCGA novel	p.Glu608Asp	missense variant	-	NC_000012.12:g.124398171C>G	NCI-TCGA
COSM4039923	p.Glu608Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124398172T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu611Lys	missense variant	-	NC_000012.12:g.124398164C>T	NCI-TCGA
NCI-TCGA novel	p.Ser612GluPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.124398162_124398163insT	NCI-TCGA
NCI-TCGA novel	p.Arg614His	missense variant	-	NC_000012.12:g.124398154C>T	NCI-TCGA
NCI-TCGA novel	p.Glu618Gln	missense variant	-	NC_000012.12:g.124398143C>G	NCI-TCGA
rs369027135	p.Thr622Ile	missense variant	-	NC_000012.12:g.124398130G>A	ESP,ExAC,TOPMed,gnomAD
rs1397390840	p.Lys624Gln	missense variant	-	NC_000012.12:g.124398125T>G	TOPMed,gnomAD
rs1293784699	p.Lys625Glu	missense variant	-	NC_000012.12:g.124398122T>C	gnomAD
rs1193770562	p.Lys625Arg	missense variant	-	NC_000012.12:g.124398121T>C	gnomAD
rs1450033538	p.Arg632His	missense variant	-	NC_000012.12:g.124385869C>T	gnomAD
rs371025380	p.Arg632Cys	missense variant	-	NC_000012.12:g.124385870G>A	ESP,TOPMed
NCI-TCGA novel	p.Trp634Ter	stop gained	-	NC_000012.12:g.124385862C>T	NCI-TCGA
rs755140842	p.Ser635Leu	missense variant	-	NC_000012.12:g.124385860G>A	ExAC,TOPMed,gnomAD
rs779517766	p.Ser635Ala	missense variant	-	NC_000012.12:g.124385861A>C	ExAC,gnomAD
rs1307691879	p.Ala636Thr	missense variant	-	NC_000012.12:g.124385858C>T	gnomAD
rs756278258	p.Ile637Val	missense variant	-	NC_000012.12:g.124385855T>C	ExAC,TOPMed,gnomAD
rs1433879346	p.Ala638Thr	missense variant	-	NC_000012.12:g.124385852C>T	gnomAD
rs761858151	p.Arg639Gln	missense variant	-	NC_000012.12:g.124385848C>T	ExAC,TOPMed,gnomAD
rs767183508	p.Arg639Trp	missense variant	-	NC_000012.12:g.124385849G>A	ExAC,TOPMed,gnomAD
rs751520375	p.Met640Thr	missense variant	-	NC_000012.12:g.124385845A>G	ExAC,gnomAD
rs1418847146	p.Met640Val	missense variant	-	NC_000012.12:g.124385846T>C	TOPMed,gnomAD
rs1418847146	p.Met640Leu	missense variant	-	NC_000012.12:g.124385846T>A	TOPMed,gnomAD
rs760341538	p.Ser647Leu	missense variant	-	NC_000012.12:g.124385824G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Cys649Ser	missense variant	-	NC_000012.12:g.124385819A>T	NCI-TCGA
rs1220649438	p.Tyr653Cys	missense variant	-	NC_000012.12:g.124385806T>C	TOPMed
rs759082684	p.Tyr656Phe	missense variant	-	NC_000012.12:g.124385797T>A	ExAC,TOPMed,gnomAD
rs773678863	p.Tyr656Ter	stop gained	-	NC_000012.12:g.124385796G>T	ExAC,TOPMed,gnomAD
rs748505338	p.Arg659Lys	missense variant	-	NC_000012.12:g.124385788C>T	ExAC,gnomAD
COSM4039921	p.Asn661Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124385782T>C	NCI-TCGA Cosmic
rs1243319812	p.Asn661Lys	missense variant	-	NC_000012.12:g.124385781G>T	TOPMed
rs1213658143	p.Asp663Asn	missense variant	-	NC_000012.12:g.124385777C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Leu666PhePheSerTerUnkUnk	frameshift	-	NC_000012.12:g.124385766_124385767insA	NCI-TCGA
rs749439677	p.His669Tyr	missense variant	-	NC_000012.12:g.124385759G>A	ExAC,gnomAD
NCI-TCGA novel	p.Met673Thr	missense variant	-	NC_000012.12:g.124385746A>G	NCI-TCGA
rs760401324	p.Lys675Arg	missense variant	-	NC_000012.12:g.124378380T>C	ExAC,gnomAD
rs775891931	p.Ala679Val	missense variant	-	NC_000012.12:g.124378368G>A	ExAC,TOPMed,gnomAD
rs367654646	p.Ala679Pro	missense variant	-	NC_000012.12:g.124378369C>G	ESP,ExAC,TOPMed,gnomAD
rs367654646	p.Ala679Thr	missense variant	-	NC_000012.12:g.124378369C>T	ESP,ExAC,TOPMed,gnomAD
rs367654646	p.Ala679Thr	missense variant	-	NC_000012.12:g.124378369C>T	NCI-TCGA,NCI-TCGA Cosmic
rs745945465	p.Arg680Trp	missense variant	-	NC_000012.12:g.124378366G>A	ExAC,gnomAD
rs373767918	p.Arg680Gln	missense variant	-	NC_000012.12:g.124378365C>T	ESP,ExAC,gnomAD
rs373767918	p.Arg680Gln	missense variant	-	NC_000012.12:g.124378365C>T	NCI-TCGA,NCI-TCGA Cosmic
COSM5129423	p.Lys682Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124378359T>C	NCI-TCGA Cosmic
rs771207656	p.Lys682Glu	missense variant	-	NC_000012.12:g.124378360T>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys684Asn	missense variant	-	NC_000012.12:g.124378352C>A	NCI-TCGA
COSM4039917	p.Lys684Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124378354T>C	NCI-TCGA Cosmic
rs202018365	p.Ala686Val	missense variant	-	NC_000012.12:g.124378347G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs758223967	p.Pro687Leu	missense variant	-	NC_000012.12:g.124378344G>A	ExAC,TOPMed,gnomAD
rs200172145	p.Ala688Val	missense variant	-	NC_000012.12:g.124378341G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373664965	p.Ala689Val	missense variant	-	NC_000012.12:g.124378338G>A	ExAC,TOPMed,gnomAD
rs1202645166	p.Ala690Val	missense variant	-	NC_000012.12:g.124378335G>A	TOPMed
rs778125767	p.Ser691Asn	missense variant	-	NC_000012.12:g.124378332C>T	gnomAD
rs370837121	p.Glu692Asp	missense variant	-	NC_000012.12:g.124378328C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750121527	p.Glu692Lys	missense variant	-	NC_000012.12:g.124378330C>T	ExAC,gnomAD
rs750121527	p.Glu692Ter	stop gained	-	NC_000012.12:g.124378330C>A	ExAC,gnomAD
COSM936734	p.Glu693Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124378325C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala694Thr	missense variant	-	NC_000012.12:g.124378324C>T	NCI-TCGA
NCI-TCGA novel	p.Ala695Val	missense variant	-	NC_000012.12:g.124378320G>A	NCI-TCGA
rs1421889309	p.Ala695Thr	missense variant	-	NC_000012.12:g.124378321C>T	gnomAD
rs1158575353	p.Phe696Leu	missense variant	-	NC_000012.12:g.124378318A>G	gnomAD
rs371054468	p.Pro697Leu	missense variant	-	NC_000012.12:g.124378314G>A	ExAC,TOPMed,gnomAD
rs771023965	p.Val699Met	missense variant	-	NC_000012.12:g.124378309C>T	ExAC,TOPMed,gnomAD
rs771023965	p.Val699Met	missense variant	-	NC_000012.12:g.124378309C>T	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Val700AlaPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.124378305_124378306insTACAAAGTCAAAAGTAGTG	NCI-TCGA
NCI-TCGA novel	p.Glu701Ter	stop gained	-	NC_000012.12:g.124378303C>A	NCI-TCGA
rs760708923	p.Asp702Asn	missense variant	-	NC_000012.12:g.124378300C>T	ExAC,TOPMed,gnomAD
rs1297678096	p.Glu703Asp	missense variant	-	NC_000012.12:g.124378295C>A	TOPMed
rs377686301	p.Glu706Ala	missense variant	-	NC_000012.12:g.124378287T>G	ESP,gnomAD
rs1214382540	p.Ala707Val	missense variant	-	NC_000012.12:g.124378284G>A	TOPMed,gnomAD
rs772228038	p.Ser708Leu	missense variant	-	NC_000012.12:g.124378281G>A	ExAC,TOPMed,gnomAD
rs772228038	p.Ser708Leu	missense variant	-	NC_000012.12:g.124378281G>A	NCI-TCGA,NCI-TCGA Cosmic
rs749225102	p.Val710Leu	missense variant	-	NC_000012.12:g.124378276C>G	ExAC,TOPMed,gnomAD
rs749225102	p.Val710Leu	missense variant	-	NC_000012.12:g.124378276C>A	ExAC,TOPMed,gnomAD
rs749225102	p.Val710Met	missense variant	-	NC_000012.12:g.124378276C>T	ExAC,TOPMed,gnomAD
rs376051705	p.Ser711Arg	missense variant	-	NC_000012.12:g.124378271G>T	ESP,ExAC,TOPMed,gnomAD
COSM6135977	p.Glu715Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124378260T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu716Val	missense variant	-	NC_000012.12:g.124378257T>A	NCI-TCGA
COSM4039915	p.Glu716Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124378258C>G	NCI-TCGA Cosmic
rs984263850	p.Met717Ile	missense variant	-	NC_000012.12:g.124378253C>T	TOPMed
rs755715468	p.Glu719Gly	missense variant	-	NC_000012.12:g.124378248T>C	ExAC,gnomAD
rs749886243	p.Glu720Asp	missense variant	-	NC_000012.12:g.124378244C>G	ExAC,gnomAD
rs1369322183	p.Ala723Gly	missense variant	-	NC_000012.12:g.124374463G>C	TOPMed
rs756613603	p.His725Tyr	missense variant	-	NC_000012.12:g.124374458G>A	ExAC,gnomAD
rs376775457	p.His725Arg	missense variant	-	NC_000012.12:g.124374457T>C	ESP,ExAC,TOPMed,gnomAD
rs1367886254	p.Ala726Val	missense variant	-	NC_000012.12:g.124374454G>A	TOPMed
COSM467978	p.Gly728Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124374448C>T	NCI-TCGA Cosmic
rs761748151	p.Gly728Arg	missense variant	-	NC_000012.12:g.124374449C>T	ExAC,gnomAD
rs764152807	p.Glu730Val	missense variant	-	NC_000012.12:g.124374442T>A	ExAC,gnomAD
rs1339188934	p.Val731Met	missense variant	-	NC_000012.12:g.124374440C>T	gnomAD
rs762816609	p.Pro732Ser	missense variant	-	NC_000012.12:g.124374437G>A	ExAC,TOPMed,gnomAD
rs775411879	p.Arg733Gly	missense variant	-	NC_000012.12:g.124374434T>C	ExAC,gnomAD
rs371284044	p.Glu735Gln	missense variant	-	NC_000012.12:g.124374428C>G	ESP,ExAC,TOPMed,gnomAD
rs770507824	p.Cys736Arg	missense variant	-	NC_000012.12:g.124374425A>G	ExAC,TOPMed
rs770507824	p.Cys736Gly	missense variant	-	NC_000012.12:g.124374425A>C	ExAC,TOPMed
rs746439656	p.Ser737Gly	missense variant	-	NC_000012.12:g.124374422T>C	ExAC,gnomAD
rs1162390841	p.Gly738Ser	missense variant	-	NC_000012.12:g.124374419C>T	gnomAD
rs757973745	p.Ala740Ser	missense variant	-	NC_000012.12:g.124374413C>A	ExAC,TOPMed,gnomAD
rs1486399893	p.Asn743Ser	missense variant	-	NC_000012.12:g.124372601T>C	TOPMed
rs766406156	p.Asn744Asp	missense variant	-	NC_000012.12:g.124372599T>C	ExAC,TOPMed,gnomAD
rs1312270286	p.Ser745Thr	missense variant	-	NC_000012.12:g.124372595C>G	TOPMed,gnomAD
rs1221329283	p.Thr748Ile	missense variant	-	NC_000012.12:g.124372586G>A	gnomAD
rs761275073	p.Glu749Lys	missense variant	-	NC_000012.12:g.124372584C>T	ExAC,TOPMed,gnomAD
rs746285912	p.Pro752Ala	missense variant	-	NC_000012.12:g.124372575G>C	ExAC,gnomAD
rs781402660	p.Pro752Leu	missense variant	-	NC_000012.12:g.124372574G>A	ExAC,gnomAD
COSM6135979	p.Ser753Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124372571G>C	NCI-TCGA Cosmic
rs1333540307	p.Pro754Thr	missense variant	-	NC_000012.12:g.124372569G>T	gnomAD
rs1333540307	p.Pro754Thr	missense variant	-	NC_000012.12:g.124372569G>T	NCI-TCGA
NCI-TCGA novel	p.His755Asp	missense variant	-	NC_000012.12:g.124372566G>C	NCI-TCGA
rs915026120	p.His755Arg	missense variant	-	NC_000012.12:g.124372565T>C	TOPMed
rs1468469096	p.Thr756Ser	missense variant	-	NC_000012.12:g.124372562G>C	gnomAD
rs375794210	p.Ala759Val	missense variant	-	NC_000012.12:g.124372553G>A	ESP,ExAC,TOPMed,gnomAD
rs747451283	p.Ala759Thr	missense variant	-	NC_000012.12:g.124372554C>T	ExAC,TOPMed,gnomAD
rs747451283	p.Ala759Thr	missense variant	-	NC_000012.12:g.124372554C>T	NCI-TCGA,NCI-TCGA Cosmic
rs372794042	p.Asp761Asn	missense variant	-	NC_000012.12:g.124372548C>T	ESP,ExAC,gnomAD
rs370533497	p.Asp761Val	missense variant	-	NC_000012.12:g.124372547T>A	ESP,ExAC,TOPMed,gnomAD
rs372794042	p.Asp761Tyr	missense variant	-	NC_000012.12:g.124372548C>A	ESP,ExAC,gnomAD
rs1483837310	p.Gly763Glu	missense variant	-	NC_000012.12:g.124372541C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gln764Leu	missense variant	-	NC_000012.12:g.124372538T>A	NCI-TCGA
rs755247494	p.Gly766Glu	missense variant	-	NC_000012.12:g.124372532C>T	ExAC
rs766069867	p.Lys768Asn	missense variant	-	NC_000012.12:g.124372525C>A	ExAC,gnomAD
rs753708090	p.Lys768Thr	missense variant	-	NC_000012.12:g.124372526T>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro770ArgPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.124372501_124372520GTCGGCGCCCAGGGTGGCTG>-	NCI-TCGA
rs376031883	p.Pro770Ser	missense variant	-	NC_000012.12:g.124372521G>A	ESP,ExAC,TOPMed,gnomAD
rs767378143	p.Ala771Thr	missense variant	-	NC_000012.12:g.124372518C>T	ExAC,gnomAD
rs1185038107	p.Leu773Val	missense variant	-	NC_000012.12:g.124372512G>C	TOPMed
rs762561340	p.Gly774Asp	missense variant	-	NC_000012.12:g.124372508C>T	ExAC,TOPMed,gnomAD
rs369819038	p.Ala775Thr	missense variant	-	NC_000012.12:g.124372506C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200734211	p.Asp776Tyr	missense variant	-	NC_000012.12:g.124372503C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200734211	p.Asp776Asn	missense variant	-	NC_000012.12:g.124372503C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201469143	p.Gly777Arg	missense variant	-	NC_000012.12:g.124372500C>T	NCI-TCGA
rs201469143	p.Gly777Arg	missense variant	-	NC_000012.12:g.124372500C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368780410	p.Pro778Leu	missense variant	-	NC_000012.12:g.124372496G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780286105	p.Pro779Ser	missense variant	-	NC_000012.12:g.124372494G>A	ExAC,gnomAD
rs1440999293	p.Pro780Ser	missense variant	-	NC_000012.12:g.124372491G>A	gnomAD
rs7978237	p.Gly781Glu	missense variant	-	NC_000012.12:g.124372487C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs7978237	p.Gly781Glu	missense variant	-	NC_000012.12:g.124372487C>T	UniProt,dbSNP
VAR_060073	p.Gly781Glu	missense variant	-	NC_000012.12:g.124372487C>T	UniProt
rs7978237	p.Gly781Ala	missense variant	-	NC_000012.12:g.124372487C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767498497	p.Pro782Arg	missense variant	-	NC_000012.12:g.124372484G>C	ExAC,gnomAD
rs751105767	p.Pro783Ser	missense variant	-	NC_000012.12:g.124372482G>A	ExAC,gnomAD
rs1321107170	p.Pro783Leu	missense variant	-	NC_000012.12:g.124372481G>A	gnomAD
rs763571158	p.Thr784Ile	missense variant	-	NC_000012.12:g.124372478G>A	ExAC,TOPMed,gnomAD
rs1261726301	p.Thr784Pro	missense variant	-	NC_000012.12:g.124372479T>G	TOPMed
COSM3457833	p.Pro785Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124372475G>A	NCI-TCGA Cosmic
rs762476709	p.Pro786Ser	missense variant	-	NC_000012.12:g.124372473G>A	ExAC,TOPMed,gnomAD
rs202028951	p.Pro787Leu	missense variant	-	NC_000012.12:g.124372469G>A	1000Genomes,ExAC,gnomAD
rs764876449	p.Glu788Asp	missense variant	-	NC_000012.12:g.124372465C>A	ExAC,gnomAD
rs764876449	p.Glu788Asp	missense variant	-	NC_000012.12:g.124372465C>G	ExAC,gnomAD
rs761004263	p.Asp789Tyr	missense variant	-	NC_000012.12:g.124372464C>A	ExAC,gnomAD
rs1179090652	p.Asp789Gly	missense variant	-	NC_000012.12:g.124372463T>C	TOPMed
rs773708902	p.Pro791Ser	missense variant	-	NC_000012.12:g.124372458G>A	ExAC,TOPMed,gnomAD
rs371727103	p.Pro791Leu	missense variant	-	NC_000012.12:g.124372457G>A	ESP,ExAC,TOPMed,gnomAD
rs1180422025	p.Ala792Thr	missense variant	-	NC_000012.12:g.124372455C>T	gnomAD
rs774953506	p.Thr794Pro	missense variant	-	NC_000012.12:g.124372449T>G	ExAC,TOPMed,gnomAD
rs1470841451	p.Thr794Ser	missense variant	-	NC_000012.12:g.124372448G>C	TOPMed
rs774953506	p.Thr794Ala	missense variant	-	NC_000012.12:g.124372449T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr797Ala	missense variant	-	NC_000012.12:g.124372440T>C	NCI-TCGA
rs749325325	p.Thr797Ile	missense variant	-	NC_000012.12:g.124372439G>A	ExAC,gnomAD
rs558636368	p.Pro798Leu	missense variant	-	NC_000012.12:g.124372436G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1331027981	p.Ala799Thr	missense variant	-	NC_000012.12:g.124372434C>T	TOPMed
rs745712638	p.Ala799Val	missense variant	-	NC_000012.12:g.124372433G>A	ExAC,gnomAD
rs1205594281	p.Glu801Asp	missense variant	-	NC_000012.12:g.124372426T>A	gnomAD
NCI-TCGA novel	p.Thr803Ile	missense variant	-	NC_000012.12:g.124372421G>A	NCI-TCGA
rs757234397	p.Thr803Pro	missense variant	-	NC_000012.12:g.124372422T>G	ExAC,TOPMed,gnomAD
rs574724205	p.Gly804Arg	missense variant	-	NC_000012.12:g.124372419C>T	ExAC,TOPMed,gnomAD
rs1281938822	p.Ala805Val	missense variant	-	NC_000012.12:g.124372415G>A	TOPMed
rs757849016	p.Thr807Met	missense variant	-	NC_000012.12:g.124372409G>A	ExAC,TOPMed,gnomAD
rs773762003	p.Pro810Ser	missense variant	-	NC_000012.12:g.124372401G>A	ExAC,gnomAD
rs768020599	p.Ala811Gly	missense variant	-	NC_000012.12:g.124372397G>C	ExAC,TOPMed,gnomAD
rs371859545	p.Pro812Thr	missense variant	-	NC_000012.12:g.124372395G>T	ESP,ExAC,TOPMed,gnomAD
rs1450987896	p.Pro812His	missense variant	-	NC_000012.12:g.124372394G>T	gnomAD
rs566444294	p.Ser814Leu	missense variant	-	NC_000012.12:g.124372388G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs548626739	p.Pro815Leu	missense variant	-	NC_000012.12:g.124372385G>A	1000Genomes,ExAC,gnomAD
rs746076517	p.Ser816Phe	missense variant	-	NC_000012.12:g.124372382G>A	ExAC,gnomAD
rs1434792123	p.Ala817Val	missense variant	-	NC_000012.12:g.124372379G>A	TOPMed
NCI-TCGA novel	p.Pro820Ala	missense variant	-	NC_000012.12:g.124372371G>C	NCI-TCGA
COSM3457831	p.Pro820Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124372371G>A	NCI-TCGA Cosmic
rs1262374220	p.Val821Ala	missense variant	-	NC_000012.12:g.124372367A>G	gnomAD
rs781341207	p.Val821Met	missense variant	-	NC_000012.12:g.124372368C>T	ExAC
rs1204699305	p.Val822Ile	missense variant	-	NC_000012.12:g.124372365C>T	gnomAD
rs777699312	p.Pro823Leu	missense variant	-	NC_000012.12:g.124372361G>A	ExAC,TOPMed,gnomAD
rs777699312	p.Pro823Arg	missense variant	-	NC_000012.12:g.124372361G>C	ExAC,TOPMed,gnomAD
rs758354006	p.Lys824Glu	missense variant	-	NC_000012.12:g.124372359T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu825Lys	missense variant	-	NC_000012.12:g.124372356C>T	NCI-TCGA
rs752191104	p.Glu825Asp	missense variant	-	NC_000012.12:g.124372354C>G	ExAC,gnomAD
rs778463817	p.Glu826Ala	missense variant	-	NC_000012.12:g.124372352T>G	ExAC,gnomAD
rs754397696	p.Glu826Asp	missense variant	-	NC_000012.12:g.124372351C>A	ExAC
rs200545956	p.Lys827Glu	missense variant	-	NC_000012.12:g.124372350T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1380968347	p.Glu828Val	missense variant	-	NC_000012.12:g.124372346T>A	gnomAD
rs751961786	p.Ala832Thr	missense variant	-	NC_000012.12:g.124372335C>T	ExAC,TOPMed,gnomAD
rs764572269	p.Ala833Val	missense variant	-	NC_000012.12:g.124372331G>A	ExAC,TOPMed,gnomAD
rs763483936	p.Ala834Val	missense variant	-	NC_000012.12:g.124372328G>A	ExAC,TOPMed,gnomAD
rs769939333	p.Pro836Gln	missense variant	-	NC_000012.12:g.124372322G>T	ExAC,gnomAD
rs1261347991	p.Glu839Asp	missense variant	-	NC_000012.12:g.124372312C>G	gnomAD
rs551146451	p.Glu839Lys	missense variant	-	NC_000012.12:g.124372314C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gly840Trp	missense variant	-	NC_000012.12:g.124372311C>A	NCI-TCGA
rs1200678956	p.Gly840Arg	missense variant	-	NC_000012.12:g.124372311C>T	gnomAD
NCI-TCGA novel	p.Glu841ArgPheSerTerUnkUnkUnk	frameshift	-	NC_000012.12:g.124372308C>-	NCI-TCGA
rs981696281	p.Glu841Lys	missense variant	-	NC_000012.12:g.124372308C>T	TOPMed,gnomAD
rs1225662254	p.Glu841Ala	missense variant	-	NC_000012.12:g.124372307T>G	gnomAD
rs777595773	p.Glu842Lys	missense variant	-	NC_000012.12:g.124372305C>T	ExAC,TOPMed,gnomAD
rs1403180266	p.Gln843Arg	missense variant	-	NC_000012.12:g.124372301T>C	TOPMed,gnomAD
rs1332784435	p.Lys844Asn	missense variant	-	NC_000012.12:g.124372297C>G	gnomAD
rs1465740220	p.Pro845Ala	missense variant	-	NC_000012.12:g.124372296G>C	TOPMed,gnomAD
rs1260863579	p.Pro845Leu	missense variant	-	NC_000012.12:g.124372295G>A	TOPMed
rs1465740220	p.Pro845Ser	missense variant	-	NC_000012.12:g.124372296G>A	TOPMed,gnomAD
rs1465740220	p.Pro845Thr	missense variant	-	NC_000012.12:g.124372296G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ala847ArgPheSerTerUnk	frameshift	-	NC_000012.12:g.124372290_124372291insG	NCI-TCGA
NCI-TCGA novel	p.Ala847ArgPheSerTerUnkUnkUnk	frameshift	-	NC_000012.12:g.124372291G>-	NCI-TCGA
rs969895149	p.Ala847Thr	missense variant	-	NC_000012.12:g.124372290C>T	TOPMed,gnomAD
rs1473630636	p.Ala847Val	missense variant	-	NC_000012.12:g.124372289G>A	TOPMed,gnomAD
rs1184372270	p.Ala848Thr	missense variant	-	NC_000012.12:g.124372287C>T	gnomAD
rs142292731	p.Glu849Gln	missense variant	-	NC_000012.12:g.124372284C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142292731	p.Glu849Lys	missense variant	-	NC_000012.12:g.124372284C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1158499925	p.Glu849Val	missense variant	-	NC_000012.12:g.124372283T>A	TOPMed
rs1241596979	p.Glu850Asp	missense variant	-	NC_000012.12:g.124372279C>G	gnomAD
rs1241596979	p.Glu850Asp	missense variant	-	NC_000012.12:g.124372279C>A	gnomAD
rs779914604	p.Ala852Val	missense variant	-	NC_000012.12:g.124372274G>A	ExAC,gnomAD
rs1438505172	p.Val853Gly	missense variant	-	NC_000012.12:g.124372271A>C	gnomAD
rs1272872834	p.Asp854Tyr	missense variant	-	NC_000012.12:g.124372269C>A	gnomAD
rs1223601520	p.Thr855Ile	missense variant	-	NC_000012.12:g.124372265G>A	gnomAD
rs752009943	p.Glu859Ala	missense variant	-	NC_000012.12:g.124372253T>G	ExAC,TOPMed,gnomAD
rs1292964006	p.Glu859Lys	missense variant	-	NC_000012.12:g.124372254C>T	gnomAD
NCI-TCGA novel	p.Glu860Lys	missense variant	-	NC_000012.12:g.124372251C>T	NCI-TCGA
NCI-TCGA novel	p.Pro861Leu	missense variant	-	NC_000012.12:g.124372247G>A	NCI-TCGA
rs561312737	p.Val862Ile	missense variant	-	NC_000012.12:g.124372245C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs541791296	p.Val862Asp	missense variant	-	NC_000012.12:g.124372244A>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser864Arg	missense variant	-	NC_000012.12:g.124372237G>C	NCI-TCGA
rs1407023581	p.Ser864Gly	missense variant	-	NC_000012.12:g.124372239T>C	gnomAD
rs1391447994	p.Ser864Asn	missense variant	-	NC_000012.12:g.124372238C>T	gnomAD
rs760866377	p.Glu865Gln	missense variant	-	NC_000012.12:g.124372236C>G	ExAC,gnomAD
rs760866377	p.Glu865Lys	missense variant	-	NC_000012.12:g.124372236C>T	ExAC,gnomAD
rs373652975	p.Thr867Arg	missense variant	-	NC_000012.12:g.124372229G>C	ESP,ExAC,TOPMed,gnomAD
rs373652975	p.Thr867Met	missense variant	-	NC_000012.12:g.124372229G>A	ESP,ExAC,TOPMed,gnomAD
rs1383586344	p.Thr867Ala	missense variant	-	NC_000012.12:g.124372230T>C	gnomAD
rs747835155	p.Glu868Gln	missense variant	-	NC_000012.12:g.124372227C>G	ExAC,gnomAD
rs774364107	p.Glu868Asp	missense variant	-	NC_000012.12:g.124372225C>G	ExAC,TOPMed,gnomAD
rs201072300	p.Glu869Lys	missense variant	-	NC_000012.12:g.124372224C>T	1000Genomes,ExAC,gnomAD
rs748876863	p.Glu869Gly	missense variant	-	NC_000012.12:g.124372223T>C	ExAC,TOPMed,gnomAD
rs1222183088	p.Ala870Pro	missense variant	-	NC_000012.12:g.124372221C>G	gnomAD
rs370196674	p.Glu871Lys	missense variant	-	NC_000012.12:g.124372218C>T	ESP,ExAC,TOPMed,gnomAD
rs745553471	p.Gly873Arg	missense variant	-	NC_000012.12:g.124372212C>T	ExAC,gnomAD
rs1295653711	p.Gly873Val	missense variant	-	NC_000012.12:g.124372211C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Pro874Ala	missense variant	-	NC_000012.12:g.124372209G>C	NCI-TCGA
rs375861088	p.Pro874Leu	missense variant	-	NC_000012.12:g.124372208G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201646624	p.Lys876Arg	missense variant	-	NC_000012.12:g.124372202T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1438062508	p.Lys876Glu	missense variant	-	NC_000012.12:g.124372203T>C	gnomAD
rs1181115614	p.Gly877Ser	missense variant	-	NC_000012.12:g.124372200C>T	TOPMed
rs765830177	p.Gly877Asp	missense variant	-	NC_000012.12:g.124372199C>T	ExAC,TOPMed,gnomAD
rs753968689	p.Ala880Thr	missense variant	-	NC_000012.12:g.124372191C>T	ExAC,gnomAD
rs370796836	p.Ala880Gly	missense variant	-	NC_000012.12:g.124372190G>C	ESP,ExAC,TOPMed,gnomAD
rs370796836	p.Ala880Val	missense variant	-	NC_000012.12:g.124372190G>A	ESP,ExAC,TOPMed,gnomAD
rs767579848	p.Glu881Val	missense variant	-	NC_000012.12:g.124372187T>A	ExAC,gnomAD
rs773491063	p.Glu881Lys	missense variant	-	NC_000012.12:g.124372188C>T	ExAC,TOPMed,gnomAD
rs373358465	p.Ala883Thr	missense variant	-	NC_000012.12:g.124372182C>T	ESP,ExAC,TOPMed,gnomAD
rs1199362391	p.Ala883Asp	missense variant	-	NC_000012.12:g.124372181G>T	gnomAD
rs1489946427	p.Ala885Val	missense variant	-	NC_000012.12:g.124372175G>A	gnomAD
rs1265804931	p.Thr886Ala	missense variant	-	NC_000012.12:g.124372173T>C	gnomAD
rs754519540	p.Thr886Met	missense variant	-	NC_000012.12:g.124372172G>A	ExAC,TOPMed,gnomAD
rs540305437	p.Ala887Asp	missense variant	-	NC_000012.12:g.124372169G>T	1000Genomes
rs554536239	p.Glu888Asp	missense variant	-	NC_000012.12:g.124372165C>G	1000Genomes,ExAC,gnomAD
COSM6135981	p.Glu888Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.124372167C>A	NCI-TCGA Cosmic
rs576230627	p.Glu888Lys	missense variant	-	NC_000012.12:g.124372167C>T	1000Genomes,ExAC,gnomAD
rs554536239	p.Glu888Asp	missense variant	-	NC_000012.12:g.124372165C>A	1000Genomes,ExAC,gnomAD
rs377259499	p.Ala890Val	missense variant	-	NC_000012.12:g.124372160G>A	ESP,ExAC,TOPMed,gnomAD
rs1282504907	p.Ala890Thr	missense variant	-	NC_000012.12:g.124372161C>T	gnomAD
rs1266425630	p.Leu891Arg	missense variant	-	NC_000012.12:g.124372157A>C	gnomAD
rs748611603	p.Ala893Thr	missense variant	-	NC_000012.12:g.124372152C>T	ExAC,gnomAD
rs779227602	p.Ala893Glu	missense variant	-	NC_000012.12:g.124372151G>T	ExAC,TOPMed,gnomAD
rs1488718449	p.Glu894Lys	missense variant	-	NC_000012.12:g.124372149C>T	gnomAD
rs755287140	p.Lys896Gln	missense variant	-	NC_000012.12:g.124372143T>G	ExAC,TOPMed,gnomAD
rs755287140	p.Lys896Glu	missense variant	-	NC_000012.12:g.124372143T>C	ExAC,TOPMed,gnomAD
rs754376024	p.Glu897Gly	missense variant	-	NC_000012.12:g.124372139T>C	ExAC
NCI-TCGA novel	p.Gly899Trp	missense variant	-	NC_000012.12:g.124372134C>A	NCI-TCGA
rs767851551	p.Gly899Arg	missense variant	-	NC_000012.12:g.124372134C>T	ExAC,gnomAD
rs1248481207	p.Gly899Glu	missense variant	-	NC_000012.12:g.124372133C>T	TOPMed
rs1045467748	p.Ser900Asn	missense variant	-	NC_000012.12:g.124372130C>T	TOPMed,gnomAD
rs751416723	p.Ser900Arg	missense variant	-	NC_000012.12:g.124372129G>T	ExAC,TOPMed,gnomAD
rs200049526	p.Gly901Ser	missense variant	-	NC_000012.12:g.124372128C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs762794536	p.Gly901Asp	missense variant	-	NC_000012.12:g.124372127C>T	ExAC
rs775569434	p.Arg902Lys	missense variant	-	NC_000012.12:g.124372124C>T	ExAC,gnomAD
rs569531615	p.Ala903Thr	missense variant	-	NC_000012.12:g.124372122C>T	1000Genomes,ExAC,gnomAD
rs775999959	p.Ala903Gly	missense variant	-	NC_000012.12:g.124372121G>C	ExAC,gnomAD
rs569531615	p.Ala903Ser	missense variant	-	NC_000012.12:g.124372122C>A	1000Genomes,ExAC,gnomAD
rs775999959	p.Ala903Val	missense variant	-	NC_000012.12:g.124372121G>A	ExAC,gnomAD
rs1201300873	p.Thr904Ala	missense variant	-	NC_000012.12:g.124372119T>C	TOPMed,gnomAD
rs1201300873	p.Thr904Ser	missense variant	-	NC_000012.12:g.124372119T>A	TOPMed,gnomAD
rs1296264221	p.Ser908Cys	missense variant	-	NC_000012.12:g.124372107T>A	gnomAD
rs375248734	p.Ser909Leu	missense variant	-	NC_000012.12:g.124372103G>A	ESP,ExAC,gnomAD
rs749599810	p.Ala911Thr	missense variant	-	NC_000012.12:g.124372098C>T	ExAC,TOPMed,gnomAD
rs1361747043	p.Ala911Val	missense variant	-	NC_000012.12:g.124372097G>A	TOPMed,gnomAD
COSM3871061	p.Pro912Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124372094G>A	NCI-TCGA Cosmic
COSM3457829	p.Pro912Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124372095G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln913ArgPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.124372092G>-	NCI-TCGA
rs780599378	p.Gln913Arg	missense variant	-	NC_000012.12:g.124372091T>C	ExAC
rs1336150911	p.Gln913Ter	stop gained	-	NC_000012.12:g.124372092G>A	gnomAD
rs750560367	p.Asp916Glu	missense variant	-	NC_000012.12:g.124372081G>C	ExAC,gnomAD
rs1403046559	p.Asp916Asn	missense variant	-	NC_000012.12:g.124372083C>T	TOPMed,gnomAD
rs1171772093	p.Asp916Gly	missense variant	-	NC_000012.12:g.124372082T>C	gnomAD
NCI-TCGA novel	p.Ser917Phe	missense variant	-	NC_000012.12:g.124372079G>A	NCI-TCGA
rs757309743	p.Cys921Arg	missense variant	-	NC_000012.12:g.124372068A>G	ExAC,gnomAD
rs1181188384	p.Ala923Val	missense variant	-	NC_000012.12:g.124372061G>A	gnomAD
rs1181188384	p.Ala923Gly	missense variant	-	NC_000012.12:g.124372061G>C	gnomAD
NCI-TCGA novel	p.Asp924Gly	missense variant	-	NC_000012.12:g.124372058T>C	NCI-TCGA
rs1251773801	p.Glu925Lys	missense variant	-	NC_000012.12:g.124372056C>T	TOPMed,gnomAD
rs1203755015	p.Val926Met	missense variant	-	NC_000012.12:g.124372053C>T	TOPMed,gnomAD
rs764342136	p.Glu928Lys	missense variant	-	NC_000012.12:g.124372047C>T	ExAC,gnomAD
rs1426291195	p.Glu930Lys	missense variant	-	NC_000012.12:g.124372041C>T	TOPMed
rs1169309528	p.Gly931Val	missense variant	-	NC_000012.12:g.124372037C>A	TOPMed
rs1314682260	p.Gly932Ser	missense variant	-	NC_000012.12:g.124372035C>T	gnomAD
rs199841782	p.Asp933Asn	missense variant	-	NC_000012.12:g.124372032C>T	ESP,ExAC,TOPMed,gnomAD
rs1299185275	p.Lys934Glu	missense variant	-	NC_000012.12:g.124372029T>C	gnomAD
rs1364923325	p.Lys934Arg	missense variant	-	NC_000012.12:g.124372028T>C	TOPMed
NCI-TCGA novel	p.Arg936Leu	missense variant	-	NC_000012.12:g.124372022C>A	NCI-TCGA
rs147831485	p.Arg936Trp	missense variant	-	NC_000012.12:g.124372023G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770082105	p.Leu938Pro	missense variant	-	NC_000012.12:g.124363794A>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro940Leu	missense variant	-	NC_000012.12:g.124363788G>A	NCI-TCGA
rs777015163	p.Arg941Gly	missense variant	-	NC_000012.12:g.124363786T>C	ExAC,TOPMed,gnomAD
rs747151335	p.Ser943Thr	missense variant	-	NC_000012.12:g.124363779C>G	ExAC,TOPMed,gnomAD
rs747151335	p.Ser943Ile	missense variant	-	NC_000012.12:g.124363779C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro947Ser	missense variant	-	NC_000012.12:g.124363768G>A	NCI-TCGA
rs1461629992	p.Pro947Thr	missense variant	-	NC_000012.12:g.124363768G>T	TOPMed
rs748412865	p.Pro947Leu	missense variant	-	NC_000012.12:g.124363767G>A	ExAC,TOPMed,gnomAD
rs748412865	p.Pro947Leu	missense variant	-	NC_000012.12:g.124363767G>A	NCI-TCGA
rs753655124	p.Asp950Asn	missense variant	-	NC_000012.12:g.124363759C>T	ExAC,TOPMed,gnomAD
rs1224670330	p.Pro951Ser	missense variant	-	NC_000012.12:g.124363756G>A	gnomAD
rs756016942	p.Arg952Pro	missense variant	-	NC_000012.12:g.124363752C>G	ExAC,TOPMed,gnomAD
rs1345192492	p.Arg952Trp	missense variant	-	NC_000012.12:g.124363753G>A	TOPMed,gnomAD
rs756016942	p.Arg952Gln	missense variant	-	NC_000012.12:g.124363752C>T	ExAC,TOPMed,gnomAD
rs1336715536	p.Asn954Ser	missense variant	-	NC_000012.12:g.124363746T>C	gnomAD
rs1385191260	p.Asn954Lys	missense variant	-	NC_000012.12:g.124363745A>C	TOPMed,gnomAD
rs767040589	p.Ser956Leu	missense variant	-	NC_000012.12:g.124363740G>A	ExAC,TOPMed,gnomAD
rs761269083	p.Gln958Lys	missense variant	-	NC_000012.12:g.124363735G>T	ExAC,gnomAD
rs763741888	p.Lys959Gln	missense variant	-	NC_000012.12:g.124363732T>G	ExAC,gnomAD
rs370992037	p.Pro960Ser	missense variant	-	NC_000012.12:g.124363729G>A	ESP,ExAC,gnomAD
rs1484756517	p.Leu961Pro	missense variant	-	NC_000012.12:g.124363725A>G	TOPMed
rs777047170	p.Lys964Gln	missense variant	-	NC_000012.12:g.124363717T>G	ExAC,TOPMed,gnomAD
rs1485314287	p.Arg969Gln	missense variant	-	NC_000012.12:g.124363701C>T	TOPMed
rs771380152	p.Ala970Val	missense variant	-	NC_000012.12:g.124363698G>A	ExAC,TOPMed,gnomAD
rs773815258	p.Ala972Gly	missense variant	-	NC_000012.12:g.124363692G>C	ExAC,gnomAD
rs1475273115	p.Pro974Leu	missense variant	-	NC_000012.12:g.124363686G>A	TOPMed
rs200740729	p.Pro975Arg	missense variant	-	NC_000012.12:g.124363683G>C	ESP,ExAC,TOPMed,gnomAD
rs1265081325	p.Pro975Ser	missense variant	-	NC_000012.12:g.124363684G>A	gnomAD
rs200740729	p.Pro975His	missense variant	-	NC_000012.12:g.124363683G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile976HisPheSerTerUnk	frameshift	-	NC_000012.12:g.124363681_124363682insG	NCI-TCGA
COSM1163694	p.Ile976SerPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.124363682G>-	NCI-TCGA Cosmic
rs1455633915	p.Ile976Leu	missense variant	-	NC_000012.12:g.124363681T>G	TOPMed
rs201362929	p.Gln977His	missense variant	-	NC_000012.12:g.124362295C>G	1000Genomes
rs1395765990	p.Val978Ile	missense variant	-	NC_000012.12:g.124362294C>T	TOPMed,gnomAD
rs781160878	p.Thr979Ala	missense variant	-	NC_000012.12:g.124362291T>C	ExAC,gnomAD
rs757179516	p.Lys980Glu	missense variant	-	NC_000012.12:g.124362288T>C	ExAC,gnomAD
rs146881270	p.Lys980Thr	missense variant	-	NC_000012.12:g.124362287T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146881270	p.Lys980Arg	missense variant	-	NC_000012.12:g.124362287T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1182951497	p.Val981Ala	missense variant	-	NC_000012.12:g.124362284A>G	gnomAD
rs757797508	p.His982Arg	missense variant	-	NC_000012.12:g.124362281T>C	ExAC,gnomAD
rs752399829	p.Glu983Asp	missense variant	-	NC_000012.12:g.124362277C>A	ExAC,TOPMed,gnomAD
rs752399829	p.Glu983Asp	missense variant	-	NC_000012.12:g.124362277C>G	ExAC,TOPMed,gnomAD
rs764926503	p.Pro984Leu	missense variant	-	NC_000012.12:g.124362275G>A	ExAC,TOPMed,gnomAD
rs764926503	p.Pro984Arg	missense variant	-	NC_000012.12:g.124362275G>C	ExAC,TOPMed,gnomAD
rs1046590158	p.Pro984Ser	missense variant	-	NC_000012.12:g.124362276G>A	TOPMed
rs764926503	p.Pro984His	missense variant	-	NC_000012.12:g.124362275G>T	ExAC,TOPMed,gnomAD
rs761180663	p.Pro985Arg	missense variant	-	NC_000012.12:g.124362272G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg986Leu	missense variant	-	NC_000012.12:g.124362269C>A	NCI-TCGA
rs561270684	p.Arg986Gly	missense variant	-	NC_000012.12:g.124362270G>C	1000Genomes,ExAC,gnomAD
rs762362538	p.Arg986Gln	missense variant	-	NC_000012.12:g.124362269C>T	ExAC,TOPMed
COSM4705995	p.Arg986GlyPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.124362270G>-	NCI-TCGA Cosmic
rs561270684	p.Arg986Trp	missense variant	-	NC_000012.12:g.124362270G>A	1000Genomes,ExAC,gnomAD
rs746871841	p.Arg986ProPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.124362269_124362270insG	NCI-TCGA,NCI-TCGA Cosmic
rs369551209	p.Ala989Thr	missense variant	-	NC_000012.12:g.124362261C>T	ESP,ExAC,TOPMed,gnomAD
rs1356554813	p.Pro991Ser	missense variant	-	NC_000012.12:g.124362255G>A	gnomAD
rs1456618783	p.Pro994Ala	missense variant	-	NC_000012.12:g.124362246G>C	TOPMed
rs11057592	p.Ala995Gly	missense variant	-	NC_000012.12:g.124362242G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372355351	p.Pro996Ser	missense variant	-	NC_000012.12:g.124362240G>A	ESP,ExAC,TOPMed,gnomAD
rs557265827	p.Pro997Leu	missense variant	-	NC_000012.12:g.124362236G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs557265827	p.Pro997Gln	missense variant	-	NC_000012.12:g.124362236G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs557265827	p.Pro997Arg	missense variant	-	NC_000012.12:g.124362236G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs746988810	p.Pro1000Leu	missense variant	-	NC_000012.12:g.124362227G>A	ExAC,TOPMed,gnomAD
rs777531858	p.Pro1001Ser	missense variant	-	NC_000012.12:g.124362225G>A	ExAC,gnomAD
rs1172671166	p.Pro1002Ser	missense variant	-	NC_000012.12:g.124362222G>A	TOPMed
rs545534542	p.Pro1002Leu	missense variant	-	NC_000012.12:g.124362221G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM1359911	p.Pro1007Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124362207G>A	NCI-TCGA Cosmic
rs778776770	p.Pro1007Leu	missense variant	-	NC_000012.12:g.124362206G>A	ExAC,TOPMed,gnomAD
rs367670978	p.Ser1009Asn	missense variant	-	NC_000012.12:g.124362200C>T	ESP,ExAC,TOPMed,gnomAD
rs374201637	p.Ser1009Arg	missense variant	-	NC_000012.12:g.124362199G>C	ESP,ExAC,TOPMed,gnomAD
rs367670978	p.Ser1009Ile	missense variant	-	NC_000012.12:g.124362200C>A	ESP,ExAC,TOPMed,gnomAD
rs374585160	p.Asp1010Asn	missense variant	-	NC_000012.12:g.124362198C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs764447197	p.Ala1011Thr	missense variant	-	NC_000012.12:g.124362195C>T	ExAC,TOPMed,gnomAD
rs764447197	p.Ala1011Ser	missense variant	-	NC_000012.12:g.124362195C>A	ExAC,TOPMed,gnomAD
rs765481521	p.Gln1013Pro	missense variant	-	NC_000012.12:g.124362188T>G	ExAC,gnomAD
COSM1299094	p.Gln1013Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.124362189G>A	NCI-TCGA Cosmic
rs1286322259	p.Pro1019Thr	missense variant	-	NC_000012.12:g.124362171G>T	gnomAD
rs1286322259	p.Pro1019Ser	missense variant	-	NC_000012.12:g.124362171G>A	gnomAD
rs1286322259	p.Pro1019Ala	missense variant	-	NC_000012.12:g.124362171G>C	gnomAD
NCI-TCGA novel	p.Arg1020ProPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.124362167_124362168insG	NCI-TCGA
rs371445558	p.Arg1020Gln	missense variant	-	NC_000012.12:g.124362167C>T	NCI-TCGA,NCI-TCGA Cosmic
rs371445558	p.Arg1020Gln	missense variant	-	NC_000012.12:g.124362167C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761012912	p.Arg1020Trp	missense variant	-	NC_000012.12:g.124362168G>A	ExAC,TOPMed,gnomAD
rs770789988	p.Gly1021Ser	missense variant	-	NC_000012.12:g.124362165C>T	ExAC,TOPMed,gnomAD
rs770789988	p.Gly1021Arg	missense variant	-	NC_000012.12:g.124362165C>G	ExAC,TOPMed,gnomAD
rs746715560	p.Gly1021Asp	missense variant	-	NC_000012.12:g.124362164C>T	ExAC,TOPMed,gnomAD
rs1453243733	p.Arg1024Gly	missense variant	-	NC_000012.12:g.124362156T>C	TOPMed
NCI-TCGA novel	p.Pro1026Ser	missense variant	-	NC_000012.12:g.124362150G>A	NCI-TCGA
rs199754396	p.Pro1026Leu	missense variant	-	NC_000012.12:g.124362149G>A	ESP,ExAC,TOPMed,gnomAD
rs113842117	p.Pro1029Leu	missense variant	-	NC_000012.12:g.124362140G>A	ExAC,gnomAD
rs778546006	p.Pro1029Ala	missense variant	-	NC_000012.12:g.124362141G>C	ExAC,TOPMed,gnomAD
rs778546006	p.Pro1029Ser	missense variant	-	NC_000012.12:g.124362141G>A	ExAC,TOPMed,gnomAD
rs536539471	p.Ala1030Thr	missense variant	-	NC_000012.12:g.124362138C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs536539471	p.Ala1030Thr	missense variant	-	NC_000012.12:g.124362138C>T	NCI-TCGA,NCI-TCGA Cosmic
rs751853167	p.Asp1031Asn	missense variant	-	NC_000012.12:g.124362135C>T	NCI-TCGA,NCI-TCGA Cosmic
rs751853167	p.Asp1031Asn	missense variant	-	NC_000012.12:g.124362135C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1032Asn	missense variant	-	NC_000012.12:g.124362130C>G	NCI-TCGA
rs764725873	p.Lys1032Arg	missense variant	-	NC_000012.12:g.124362131T>C	ExAC,TOPMed,gnomAD
rs764725873	p.Lys1032Thr	missense variant	-	NC_000012.12:g.124362131T>G	ExAC,TOPMed,gnomAD
rs758743334	p.Ala1034Asp	missense variant	-	NC_000012.12:g.124356782G>T	ExAC,TOPMed,gnomAD
rs764940434	p.Phe1035Val	missense variant	-	NC_000012.12:g.124356780A>C	TOPMed,gnomAD
rs139960265	p.Ala1036Ser	missense variant	-	NC_000012.12:g.124356777C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139960265	p.Ala1036Thr	missense variant	-	NC_000012.12:g.124356777C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs531931569	p.Glu1038Lys	missense variant	-	NC_000012.12:g.124356771C>T	1000Genomes,TOPMed,gnomAD
rs760784859	p.Lys1041Thr	missense variant	-	NC_000012.12:g.124356761T>G	ExAC,TOPMed,gnomAD
rs564703466	p.Lys1041Glu	missense variant	-	NC_000012.12:g.124356762T>C	1000Genomes,ExAC,gnomAD
rs760784859	p.Lys1041Arg	missense variant	-	NC_000012.12:g.124356761T>C	ExAC,TOPMed,gnomAD
rs1293316528	p.Pro1043Arg	missense variant	-	NC_000012.12:g.124356755G>C	TOPMed
rs377013062	p.Asp1045His	missense variant	-	NC_000012.12:g.124356750C>G	ESP,ExAC,TOPMed,gnomAD
rs767244603	p.Asp1045Val	missense variant	-	NC_000012.12:g.124356749T>A	ExAC,gnomAD
rs767244603	p.Asp1045Gly	missense variant	-	NC_000012.12:g.124356749T>C	ExAC,gnomAD
NCI-TCGA novel	p.Pro1046Leu	missense variant	-	NC_000012.12:g.124356746G>A	NCI-TCGA
COSM1359909	p.Pro1047LeuPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.124356743G>-	NCI-TCGA Cosmic
rs761630262	p.Pro1047Arg	missense variant	-	NC_000012.12:g.124356743G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys1048LeuPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.124356742_124356743insG	NCI-TCGA
rs774440340	p.Trp1049Gly	missense variant	-	NC_000012.12:g.124356738A>C	ExAC,gnomAD
rs1444650436	p.Thr1050Ser	missense variant	-	NC_000012.12:g.124356734G>C	gnomAD
rs768705220	p.Thr1050Ala	missense variant	-	NC_000012.12:g.124356735T>C	ExAC,gnomAD
rs570351609	p.Gly1052Ser	missense variant	-	NC_000012.12:g.124356729C>T	ExAC,gnomAD
rs745530821	p.Phe1055Leu	missense variant	-	NC_000012.12:g.124356720A>G	ExAC,gnomAD
COSM3457823	p.Pro1056Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124356717G>A	NCI-TCGA Cosmic
rs572797192	p.Val1057Met	missense variant	-	NC_000012.12:g.124356714C>T	1000Genomes,ExAC,gnomAD
rs369021070	p.Pro1058Leu	missense variant	-	NC_000012.12:g.124356710G>A	ESP,ExAC,TOPMed,gnomAD
rs369021070	p.Pro1058Arg	missense variant	-	NC_000012.12:g.124356710G>C	ESP,ExAC,TOPMed,gnomAD
rs1248454638	p.Pro1058Thr	missense variant	-	NC_000012.12:g.124356711G>T	gnomAD
rs369021070	p.Pro1058His	missense variant	-	NC_000012.12:g.124356710G>T	ESP,ExAC,TOPMed,gnomAD
rs200662620	p.Pro1059Leu	missense variant	-	NC_000012.12:g.124356707G>A	ESP,ExAC,TOPMed,gnomAD
rs1197179545	p.Pro1059Ala	missense variant	-	NC_000012.12:g.124356708G>C	TOPMed,gnomAD
rs200662620	p.Pro1059His	missense variant	-	NC_000012.12:g.124356707G>T	ESP,ExAC,TOPMed,gnomAD
rs200662620	p.Pro1059Arg	missense variant	-	NC_000012.12:g.124356707G>C	ESP,ExAC,TOPMed,gnomAD
rs199595579	p.Arg1060His	missense variant	-	NC_000012.12:g.124356704C>T	1000Genomes,ESP,ExAC,TOPMed
rs372982176	p.Arg1060Cys	missense variant	-	NC_000012.12:g.124356705G>A	ESP,ExAC,TOPMed,gnomAD
rs771862790	p.Arg1060ValPheSerTerUnk	frameshift	-	NC_000012.12:g.124356705G>-	NCI-TCGA,NCI-TCGA Cosmic
rs1376129058	p.Val1062Gly	missense variant	-	NC_000012.12:g.124356698A>C	gnomAD
rs1409549593	p.Ile1063Thr	missense variant	-	NC_000012.12:g.124356695A>G	gnomAD
rs767718046	p.Ile1063Val	missense variant	-	NC_000012.12:g.124356696T>C	ExAC,gnomAD
rs1369108347	p.Lys1064Thr	missense variant	-	NC_000012.12:g.124356692T>G	gnomAD
rs2271137	p.Ala1065Pro	missense variant	-	NC_000012.12:g.124356690C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373373798	p.Ala1065Val	missense variant	-	NC_000012.12:g.124356689G>A	ESP,ExAC,gnomAD
rs2271137	p.Ala1065Thr	missense variant	-	NC_000012.12:g.124356690C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2271137	p.Ala1065Ser	missense variant	-	NC_000012.12:g.124356690C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM692416	p.Ser1066Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124356686G>A	NCI-TCGA Cosmic
rs775451734	p.Pro1067Leu	missense variant	-	NC_000012.12:g.124356683G>A	ExAC,TOPMed,gnomAD
rs775451734	p.Pro1067Gln	missense variant	-	NC_000012.12:g.124356683G>T	ExAC,TOPMed,gnomAD
rs776161756	p.His1068Arg	missense variant	-	NC_000012.12:g.124356680T>C	ExAC,gnomAD
rs770557834	p.Ala1069Val	missense variant	-	NC_000012.12:g.124356677G>A	ExAC,TOPMed,gnomAD
COSM6015239	p.Pro1070Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124356675G>A	NCI-TCGA Cosmic
rs748552524	p.Pro1070Leu	missense variant	-	NC_000012.12:g.124356674G>A	ExAC,gnomAD
rs1223030339	p.Asp1071Glu	missense variant	-	NC_000012.12:g.124356670G>C	gnomAD
rs768958793	p.Asp1071Gly	missense variant	-	NC_000012.12:g.124356671T>C	ExAC,gnomAD
rs1016525144	p.Pro1072Leu	missense variant	-	NC_000012.12:g.124356668G>A	TOPMed
rs780540004	p.Ala1074Ser	missense variant	-	NC_000012.12:g.124356663C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser1076Phe	missense variant	-	NC_000012.12:g.124356656G>A	NCI-TCGA
rs1219415121	p.Ser1076Tyr	missense variant	-	NC_000012.12:g.124356656G>T	gnomAD
rs767966944	p.Tyr1077Cys	missense variant	-	NC_000012.12:g.124356653T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1078Ser	missense variant	-	NC_000012.12:g.124356651C>A	NCI-TCGA
rs781631837	p.Ala1078Thr	missense variant	-	NC_000012.12:g.124356651C>T	ExAC,gnomAD
rs912017443	p.Gly1081Asp	missense variant	-	NC_000012.12:g.124355571C>T	gnomAD
COSM3871055	p.His1082Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124355569G>A	NCI-TCGA Cosmic
rs767140612	p.Pro1083Leu	missense variant	-	NC_000012.12:g.124355565G>A	ExAC,TOPMed,gnomAD
rs1463622357	p.Pro1083Ala	missense variant	-	NC_000012.12:g.124355566G>C	gnomAD
rs1463622357	p.Pro1083Ser	missense variant	-	NC_000012.12:g.124355566G>A	gnomAD
rs1204876008	p.Pro1085Leu	missense variant	-	NC_000012.12:g.124355559G>A	gnomAD
rs1230144910	p.Gly1087Asp	missense variant	-	NC_000012.12:g.124355553C>T	gnomAD
rs1230144910	p.Gly1087Val	missense variant	-	NC_000012.12:g.124355553C>A	gnomAD
rs775897175	p.Leu1088His	missense variant	-	NC_000012.12:g.124355550A>T	ExAC,TOPMed,gnomAD
rs1210041700	p.Leu1088Phe	missense variant	-	NC_000012.12:g.124355551G>A	TOPMed,gnomAD
rs1296457042	p.Asp1090Tyr	missense variant	-	NC_000012.12:g.124355545C>A	gnomAD
rs1384383330	p.Thr1091Ile	missense variant	-	NC_000012.12:g.124355541G>A	gnomAD
rs201324168	p.Ala1092Val	missense variant	-	NC_000012.12:g.124355538G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs531971575	p.Arg1093Gln	missense variant	-	NC_000012.12:g.124355535C>T	1000Genomes,ExAC,gnomAD
rs370852815	p.Arg1093Trp	missense variant	-	NC_000012.12:g.124355536G>A	ESP,ExAC,gnomAD
rs778200220	p.Pro1094Ser	missense variant	-	NC_000012.12:g.124355533G>A	ExAC,gnomAD
rs199761768	p.Val1095Ile	missense variant	-	NC_000012.12:g.124355530C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs199761768	p.Val1095Phe	missense variant	-	NC_000012.12:g.124355530C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs530717643	p.Pro1097Leu	missense variant	-	NC_000012.12:g.124355523G>A	ExAC,TOPMed,gnomAD
rs370396690	p.Arg1098Gly	missense variant	-	NC_000012.12:g.124355521G>C	ESP,ExAC,TOPMed,gnomAD
rs375804883	p.Arg1098His	missense variant	-	NC_000012.12:g.124355520C>T	ESP,ExAC,TOPMed,gnomAD
rs375804883	p.Arg1098Leu	missense variant	-	NC_000012.12:g.124355520C>A	ESP,ExAC,TOPMed,gnomAD
rs370396690	p.Arg1098Cys	missense variant	-	NC_000012.12:g.124355521G>A	ESP,ExAC,TOPMed,gnomAD
rs1483601154	p.Pro1099Leu	missense variant	-	NC_000012.12:g.124355517G>A	gnomAD
rs749926513	p.Ile1102Val	missense variant	-	NC_000012.12:g.124355509T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1103Phe	missense variant	-	NC_000012.12:g.124355505G>A	NCI-TCGA
rs767111739	p.Ser1103Cys	missense variant	-	NC_000012.12:g.124355505G>C	ExAC,gnomAD
rs982236332	p.Asn1104Ser	missense variant	-	NC_000012.12:g.124355502T>C	gnomAD
rs1290185761	p.Asn1104Asp	missense variant	-	NC_000012.12:g.124355503T>C	TOPMed
rs761508712	p.Pro1105Leu	missense variant	-	NC_000012.12:g.124355499G>A	ExAC,TOPMed,gnomAD
rs1243490006	p.Pro1107Ser	missense variant	-	NC_000012.12:g.124355494G>A	gnomAD
rs770903876	p.Pro1107Leu	missense variant	-	NC_000012.12:g.124355493G>A	ExAC,TOPMed,gnomAD
rs771552958	p.Leu1108Phe	missense variant	-	NC_000012.12:g.124355491G>A	ExAC,TOPMed,gnomAD
rs1307578131	p.Ser1110Tyr	missense variant	-	NC_000012.12:g.124355484G>T	gnomAD
rs1367743519	p.Ala1112Val	missense variant	-	NC_000012.12:g.124355478G>A	gnomAD
rs1163879883	p.His1114Tyr	missense variant	-	NC_000012.12:g.124355473G>A	gnomAD
rs771995389	p.Pro1115Ser	missense variant	-	NC_000012.12:g.124355470G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1116Ile	missense variant	-	NC_000012.12:g.124355466C>A	NCI-TCGA
rs1014850699	p.Ser1116Gly	missense variant	-	NC_000012.12:g.124355467T>C	TOPMed
rs190767010	p.Val1117Ile	missense variant	-	NC_000012.12:g.124355464C>T	1000Genomes,ExAC,gnomAD
rs768508380	p.Leu1118Val	missense variant	-	NC_000012.12:g.124355461G>C	ExAC,gnomAD
rs780028873	p.Glu1119Ala	missense variant	-	NC_000012.12:g.124355457T>G	ExAC,TOPMed,gnomAD
rs1290192051	p.Glu1119Lys	missense variant	-	NC_000012.12:g.124355458C>T	TOPMed,gnomAD
rs749987781	p.Gln1121His	missense variant	-	NC_000012.12:g.124355450T>G	ExAC,gnomAD
COSM5086746	p.Ala1124Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124355442G>A	NCI-TCGA Cosmic
rs1416393956	p.Ala1124Ser	missense variant	-	NC_000012.12:g.124355443C>A	gnomAD
rs780781004	p.Ile1125Ser	missense variant	-	NC_000012.12:g.124355439A>C	ExAC,gnomAD
rs769533262	p.Met1129Ile	missense variant	-	NC_000012.12:g.124354934C>T	ExAC,gnomAD
rs769533262	p.Met1129Ile	missense variant	-	NC_000012.12:g.124354934C>A	ExAC,gnomAD
rs745840872	p.Ser1130Leu	missense variant	-	NC_000012.12:g.124354932G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu1133Arg	missense variant	-	NC_000012.12:g.124354923A>C	NCI-TCGA
NCI-TCGA novel	p.His1134Tyr	missense variant	-	NC_000012.12:g.124354921G>A	NCI-TCGA
rs369600049	p.Val1135Ile	missense variant	-	NC_000012.12:g.124354918C>T	ESP,ExAC,TOPMed,gnomAD
COSM3457819	p.Pro1136Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124354915G>A	NCI-TCGA Cosmic
rs766879930	p.Pro1136Leu	missense variant	-	NC_000012.12:g.124354914G>A	ExAC,TOPMed,gnomAD
rs766879930	p.Pro1136Gln	missense variant	-	NC_000012.12:g.124354914G>T	ExAC,TOPMed,gnomAD
rs767895310	p.Tyr1137Ter	stop gained	-	NC_000012.12:g.124354910G>T	ExAC,gnomAD
rs762017338	p.Ala1141Thr	missense variant	-	NC_000012.12:g.124354900C>T	ExAC,gnomAD
rs1243529923	p.Lys1142Arg	missense variant	-	NC_000012.12:g.124354896T>C	gnomAD
rs764345636	p.Pro1144Thr	missense variant	-	NC_000012.12:g.124354891G>T	ExAC,gnomAD
rs763188702	p.Pro1144Leu	missense variant	-	NC_000012.12:g.124354890G>A	ExAC,gnomAD
rs764345636	p.Pro1144Ser	missense variant	-	NC_000012.12:g.124354891G>A	ExAC,gnomAD
rs1312773415	p.Gly1146Ser	missense variant	-	NC_000012.12:g.124354885C>T	TOPMed,gnomAD
rs1312773415	p.Gly1146Cys	missense variant	-	NC_000012.12:g.124354885C>A	TOPMed,gnomAD
rs1204164507	p.Gly1146Val	missense variant	-	NC_000012.12:g.124354884C>A	gnomAD
COSM936723	p.Val1148Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124354879C>T	NCI-TCGA Cosmic
rs770771093	p.Thr1149Ile	missense variant	-	NC_000012.12:g.124354875G>A	ExAC,TOPMed,gnomAD
COSM692424	p.Met1150Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124354871C>A	NCI-TCGA Cosmic
COSM692422	p.Met1150Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124354873T>A	NCI-TCGA Cosmic
rs746569521	p.Met1150Ile	missense variant	-	NC_000012.12:g.124354871C>T	ExAC,TOPMed,gnomAD
rs1339847749	p.Gly1151Ala	missense variant	-	NC_000012.12:g.124354869C>G	gnomAD
rs747807076	p.Pro1153Ser	missense variant	-	NC_000012.12:g.124354864G>A	ExAC,gnomAD
rs747807076	p.Pro1153Thr	missense variant	-	NC_000012.12:g.124354864G>T	ExAC,gnomAD
rs778648175	p.Met1156Val	missense variant	-	NC_000012.12:g.124354855T>C	ExAC,TOPMed,gnomAD
rs1250252045	p.Pro1158Ala	missense variant	-	NC_000012.12:g.124354849G>C	TOPMed
rs1250252045	p.Pro1158Thr	missense variant	-	NC_000012.12:g.124354849G>T	TOPMed
rs781741167	p.Lys1159Arg	missense variant	-	NC_000012.12:g.124354845T>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys1160SerPheSerTerUnk	frameshift	-	NC_000012.12:g.124354842T>-	NCI-TCGA
COSM5134814	p.Leu1161Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124354839A>G	NCI-TCGA Cosmic
rs1297292126	p.Pro1163Thr	missense variant	-	NC_000012.12:g.124354580G>T	TOPMed
rs375500659	p.Phe1164Leu	missense variant	-	NC_000012.12:g.124354575G>C	ESP,ExAC,gnomAD
rs759513912	p.Ser1165Asn	missense variant	-	NC_000012.12:g.124354573C>T	gnomAD
rs1458737200	p.Gly1166Glu	missense variant	-	NC_000012.12:g.124354570C>T	gnomAD
rs773974343	p.Gly1166Arg	missense variant	-	NC_000012.12:g.124354571C>T	ExAC,TOPMed,gnomAD
rs773974343	p.Gly1166Arg	missense variant	-	NC_000012.12:g.124354571C>G	ExAC,TOPMed,gnomAD
rs1412678311	p.Val1167Met	missense variant	-	NC_000012.12:g.124354568C>T	gnomAD
rs1249819980	p.Pro1174Leu	missense variant	-	NC_000012.12:g.124354546G>A	gnomAD
rs936308085	p.Pro1174Ser	missense variant	-	NC_000012.12:g.124354547G>A	TOPMed
rs748921061	p.Arg1175Gln	missense variant	-	NC_000012.12:g.124354543C>T	ExAC,TOPMed,gnomAD
rs768160039	p.Arg1175Trp	missense variant	-	NC_000012.12:g.124354544G>A	ExAC,TOPMed,gnomAD
rs1264929037	p.Gly1179Glu	missense variant	-	NC_000012.12:g.124354531C>T	gnomAD
rs200304507	p.Pro1181Leu	missense variant	-	NC_000012.12:g.124354525G>A	ESP,ExAC,TOPMed,gnomAD
rs200304507	p.Pro1181Gln	missense variant	-	NC_000012.12:g.124354525G>T	ESP,ExAC,TOPMed,gnomAD
rs1302865131	p.Ser1183Asn	missense variant	-	NC_000012.12:g.124354519C>T	gnomAD
rs778988037	p.Leu1184Val	missense variant	-	NC_000012.12:g.124354517G>C	ExAC,gnomAD
rs373657866	p.Gly1185Arg	missense variant	-	NC_000012.12:g.124354514C>T	ESP,ExAC,TOPMed,gnomAD
rs754019236	p.Val1186Leu	missense variant	-	NC_000012.12:g.124354511C>A	ExAC,TOPMed,gnomAD
rs766608358	p.Pro1187Ala	missense variant	-	NC_000012.12:g.124354508G>C	ExAC,gnomAD
rs1158356212	p.Pro1187Arg	missense variant	-	NC_000012.12:g.124354507G>C	TOPMed,gnomAD
rs1455385050	p.Thr1188Ile	missense variant	-	NC_000012.12:g.124354504G>A	gnomAD
rs767609175	p.Ala1192Val	missense variant	-	NC_000012.12:g.124354492G>A	ExAC,TOPMed,gnomAD
rs750211341	p.Ala1192Ser	missense variant	-	NC_000012.12:g.124354493C>A	ExAC,gnomAD
rs201788687	p.Val1194Leu	missense variant	-	NC_000012.12:g.124354487C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201788687	p.Val1194Met	missense variant	-	NC_000012.12:g.124354487C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs764847497	p.Gly1197Ala	missense variant	-	NC_000012.12:g.124354196C>G	ExAC,gnomAD
rs1258121083	p.Gly1197Arg	missense variant	-	NC_000012.12:g.124354478C>G	gnomAD
rs537105801	p.Ala1199Ser	missense variant	-	NC_000012.12:g.124354191C>A	1000Genomes,ExAC,gnomAD
rs1273511849	p.Gly1201Asp	missense variant	-	NC_000012.12:g.124354184C>T	gnomAD
rs776228733	p.Val1203Ala	missense variant	-	NC_000012.12:g.124354178A>G	ExAC,gnomAD
rs1483790550	p.Val1203Ile	missense variant	-	NC_000012.12:g.124354179C>T	TOPMed
rs1177416140	p.Pro1204Thr	missense variant	-	NC_000012.12:g.124354176G>T	TOPMed
rs200115581	p.Pro1204Leu	missense variant	-	NC_000012.12:g.124354175G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780200698	p.Gly1206Arg	missense variant	-	NC_000012.12:g.124354170C>T	ExAC,TOPMed,gnomAD
rs142487031	p.Thr1209Ile	missense variant	-	NC_000012.12:g.124354160G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781503622	p.Ile1212Phe	missense variant	-	NC_000012.12:g.124354152T>A	ExAC,gnomAD
rs781503622	p.Ile1212Val	missense variant	-	NC_000012.12:g.124354152T>C	ExAC,gnomAD
rs1307681469	p.Pro1213Ser	missense variant	-	NC_000012.12:g.124354149G>A	gnomAD
rs1408213259	p.Arg1216Trp	missense variant	-	NC_000012.12:g.124354140G>A	TOPMed,gnomAD
rs377739293	p.Arg1216Gln	missense variant	-	NC_000012.12:g.124354139C>T	ESP,ExAC,TOPMed,gnomAD
rs1457824712	p.Pro1218Leu	missense variant	-	NC_000012.12:g.124354133G>A	gnomAD
rs909322345	p.Ser1219Leu	missense variant	-	NC_000012.12:g.124354130G>A	TOPMed
rs1384812285	p.Asp1220Glu	missense variant	-	NC_000012.12:g.124354126G>C	TOPMed
rs751369768	p.Ser1221Gly	missense variant	-	NC_000012.12:g.124354125T>C	ExAC,gnomAD
rs758335588	p.Ala1222Thr	missense variant	-	NC_000012.12:g.124354122C>T	ExAC,TOPMed,gnomAD
rs983428446	p.Thr1224Ala	missense variant	-	NC_000012.12:g.124354116T>C	TOPMed,gnomAD
rs1204612218	p.Tyr1225His	missense variant	-	NC_000012.12:g.124354113A>G	TOPMed
rs1208772467	p.Tyr1225Cys	missense variant	-	NC_000012.12:g.124354112T>C	TOPMed,gnomAD
rs184942554	p.Arg1226His	missense variant	-	NC_000012.12:g.124354109C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs764760107	p.Arg1226Cys	missense variant	-	NC_000012.12:g.124354110G>A	ExAC,TOPMed,gnomAD
rs764760107	p.Arg1226Ser	missense variant	-	NC_000012.12:g.124354110G>T	ExAC,TOPMed,gnomAD
rs762205450	p.Gly1227Ser	missense variant	-	NC_000012.12:g.124354107C>T	ExAC,gnomAD
rs762205450	p.Gly1227Cys	missense variant	-	NC_000012.12:g.124354107C>A	ExAC,gnomAD
rs774754353	p.His1231Tyr	missense variant	-	NC_000012.12:g.124354095G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly1232Arg	missense variant	-	NC_000012.12:g.124350737C>G	NCI-TCGA
rs1299888252	p.Thr1233Ser	missense variant	-	NC_000012.12:g.124350734T>A	gnomAD
rs200297509	p.Thr1233Met	missense variant	-	NC_000012.12:g.124350733G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200297509	p.Thr1233Lys	missense variant	-	NC_000012.12:g.124350733G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1361820781	p.Pro1234Thr	missense variant	-	NC_000012.12:g.124350731G>T	gnomAD
rs1467176568	p.Pro1234Arg	missense variant	-	NC_000012.12:g.124350730G>C	TOPMed
rs754887514	p.Ala1235Pro	missense variant	-	NC_000012.12:g.124350728C>G	ExAC,gnomAD
rs754887514	p.Ala1235Thr	missense variant	-	NC_000012.12:g.124350728C>T	ExAC,gnomAD
rs749174849	p.Asp1236Val	missense variant	-	NC_000012.12:g.124350724T>A	ExAC,TOPMed,gnomAD
rs755508738	p.Val1237Ile	missense variant	-	NC_000012.12:g.124350722C>T	ExAC,TOPMed,gnomAD
rs750101439	p.Leu1238Pro	missense variant	-	NC_000012.12:g.124350718A>G	ExAC,TOPMed,gnomAD
rs1168626584	p.Lys1240Gln	missense variant	-	NC_000012.12:g.124350713T>G	gnomAD
rs1428568878	p.Gly1241Ser	missense variant	-	NC_000012.12:g.124350710C>T	gnomAD
rs753083702	p.Thr1244Ala	missense variant	-	NC_000012.12:g.124350701T>C	ExAC,gnomAD
rs1236663114	p.Arg1245Ser	missense variant	-	NC_000012.12:g.124350696C>G	TOPMed,gnomAD
rs765898416	p.Ile1247Val	missense variant	-	NC_000012.12:g.124350692T>C	ExAC,TOPMed,gnomAD
rs777238561	p.Gly1248Ser	missense variant	-	NC_000012.12:g.124350689C>T	ExAC,TOPMed,gnomAD
rs201817923	p.Glu1249Lys	missense variant	-	NC_000012.12:g.124350686C>T	ExAC,TOPMed,gnomAD
rs773542363	p.Ser1251Cys	missense variant	-	NC_000012.12:g.124350680T>A	ExAC,gnomAD
rs371001060	p.Pro1252Leu	missense variant	-	NC_000012.12:g.124350676G>A	ESP,ExAC,TOPMed,gnomAD
rs371001060	p.Pro1252Arg	missense variant	-	NC_000012.12:g.124350676G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1254His	missense variant	-	NC_000012.12:g.124350670C>T	NCI-TCGA
rs202111746	p.Arg1254Ser	missense variant	-	NC_000012.12:g.124350671G>T	ESP,ExAC,TOPMed,gnomAD
rs202111746	p.Arg1254Cys	missense variant	-	NC_000012.12:g.124350671G>A	ESP,ExAC,TOPMed,gnomAD
rs374662581	p.Arg1254Leu	missense variant	-	NC_000012.12:g.124350670C>A	ESP,gnomAD
rs1004460475	p.Leu1255Ser	missense variant	-	NC_000012.12:g.124350667A>G	TOPMed
rs76063811	p.Leu1255Phe	missense variant	-	NC_000012.12:g.124350666C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1460987551	p.Asp1256Tyr	missense variant	-	NC_000012.12:g.124350665C>A	gnomAD
rs138508287	p.Asp1256Glu	missense variant	-	NC_000012.12:g.124350663G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs780940395	p.Arg1257His	missense variant	-	NC_000012.12:g.124350661C>T	ExAC,TOPMed,gnomAD
rs199979566	p.Arg1257Cys	missense variant	-	NC_000012.12:g.124350662G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780940395	p.Arg1257Leu	missense variant	-	NC_000012.12:g.124350661C>A	ExAC,TOPMed,gnomAD
rs1473462264	p.Gly1258Asp	missense variant	-	NC_000012.12:g.124350658C>T	gnomAD
rs202002288	p.Gly1258Ser	missense variant	-	NC_000012.12:g.124350659C>T	ESP,ExAC,TOPMed,gnomAD
rs202002288	p.Gly1258Cys	missense variant	-	NC_000012.12:g.124350659C>A	ESP,ExAC,TOPMed,gnomAD
rs373295499	p.Arg1259Gly	missense variant	-	NC_000012.12:g.124350656G>C	ESP,ExAC,TOPMed,gnomAD
rs1183168054	p.Arg1259Gln	missense variant	-	NC_000012.12:g.124350655C>T	gnomAD
rs373295499	p.Arg1259Trp	missense variant	-	NC_000012.12:g.124350656G>A	ESP,ExAC,TOPMed,gnomAD
rs1342777206	p.Glu1260Lys	missense variant	-	NC_000012.12:g.124350653C>T	TOPMed
rs1231228001	p.Asp1261Gly	missense variant	-	NC_000012.12:g.124350649T>C	gnomAD
rs766785477	p.Pro1264Ala	missense variant	-	NC_000012.12:g.124350641G>C	ExAC,gnomAD
rs750445664	p.Lys1265Gln	missense variant	-	NC_000012.12:g.124350638T>G	ExAC,TOPMed,gnomAD
rs750445664	p.Lys1265Glu	missense variant	-	NC_000012.12:g.124350638T>C	ExAC,TOPMed,gnomAD
rs1331668425	p.Gly1266Asp	missense variant	-	NC_000012.12:g.124350634C>T	gnomAD
rs369217542	p.Gly1266Ser	missense variant	-	NC_000012.12:g.124350635C>T	ESP,ExAC,TOPMed,gnomAD
rs762053857	p.His1267Gln	missense variant	-	NC_000012.12:g.124350630G>T	ExAC,gnomAD
rs575622579	p.Val1268Ile	missense variant	-	NC_000012.12:g.124350629C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr1270Ter	stop gained	-	NC_000012.12:g.124350621G>C	NCI-TCGA
NCI-TCGA novel	p.Lys1273GlnPheSerTerUnk	frameshift	-	NC_000012.12:g.124350615_124350616insC	NCI-TCGA
rs1294739266	p.Lys1273Thr	missense variant	-	NC_000012.12:g.124350613T>G	TOPMed,gnomAD
rs1294739266	p.Lys1273Arg	missense variant	-	NC_000012.12:g.124350613T>C	TOPMed,gnomAD
rs1260699909	p.His1276Pro	missense variant	-	NC_000012.12:g.124350604T>G	TOPMed
rs762719883	p.His1276Tyr	missense variant	-	NC_000012.12:g.124350605G>A	ExAC,gnomAD
rs753818416	p.Val1277Ile	missense variant	-	NC_000012.12:g.124350602C>T	ExAC,TOPMed,gnomAD
rs745435680	p.Tyr1280Cys	missense variant	-	NC_000012.12:g.124350592T>C	ExAC,gnomAD
rs1406103274	p.Glu1281Lys	missense variant	-	NC_000012.12:g.124350590C>T	gnomAD
rs1192944527	p.Glu1281Asp	missense variant	-	NC_000012.12:g.124350588C>A	gnomAD
rs372325371	p.Gly1282Asp	missense variant	-	NC_000012.12:g.124348314C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372325371	p.Gly1282Val	missense variant	-	NC_000012.12:g.124348314C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1164923155	p.Gly1282Ser	missense variant	-	NC_000012.12:g.124350587C>T	TOPMed
rs1380247557	p.Gly1283Asp	missense variant	-	NC_000012.12:g.124348311C>T	gnomAD
rs1394058350	p.Met1284Thr	missense variant	-	NC_000012.12:g.124348308A>G	TOPMed
rs1303276160	p.Ser1285Cys	missense variant	-	NC_000012.12:g.124348305G>C	gnomAD
rs981026802	p.Ser1290Phe	missense variant	-	NC_000012.12:g.124348290G>A	TOPMed,gnomAD
rs781712160	p.Lys1291Thr	missense variant	-	NC_000012.12:g.124348287T>G	ExAC,TOPMed,gnomAD
rs1482395355	p.Asp1293Asn	missense variant	-	NC_000012.12:g.124348282C>T	gnomAD
rs1171797655	p.Asp1293Gly	missense variant	-	NC_000012.12:g.124348281T>C	gnomAD
rs758644470	p.Gly1294Asp	missense variant	-	NC_000012.12:g.124348278C>T	ExAC,gnomAD
rs201631835	p.Gly1294Ser	missense variant	-	NC_000012.12:g.124348279C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201631835	p.Gly1294Cys	missense variant	-	NC_000012.12:g.124348279C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1295SerPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.124348274_124348275insTTCTTACGTGTTTTGAA	NCI-TCGA
rs752927482	p.Arg1295Gly	missense variant	-	NC_000012.12:g.124348276T>C	ExAC,gnomAD
rs553946803	p.Pro1300Leu	missense variant	-	NC_000012.12:g.124348260G>A	1000Genomes,gnomAD
rs561193208	p.Pro1301Leu	missense variant	-	NC_000012.12:g.124348257G>A	gnomAD
rs561193208	p.Pro1301Arg	missense variant	-	NC_000012.12:g.124348257G>C	gnomAD
COSM2226980	p.His1302MetPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.124348255G>-	NCI-TCGA Cosmic
rs993806028	p.His1302Gln	missense variant	-	NC_000012.12:g.124348253A>C	TOPMed,gnomAD
rs768164546	p.His1302ProPheSerTerUnk	frameshift	-	NC_000012.12:g.124348254_124348255insG	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1303Lys	missense variant	-	NC_000012.12:g.124348252C>T	NCI-TCGA
COSM6071594	p.Thr1304Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124348249T>A	NCI-TCGA Cosmic
rs186612391	p.Thr1304Met	missense variant	-	NC_000012.12:g.124348248G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200025110	p.Ala1306Thr	missense variant	-	NC_000012.12:g.124348243C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs760303332	p.Pro1307Arg	missense variant	-	NC_000012.12:g.124348239G>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys1308SerPheSerTerUnk	frameshift	-	NC_000012.12:g.124348238G>-	NCI-TCGA
rs772869612	p.Lys1308Arg	missense variant	-	NC_000012.12:g.124348236T>C	ExAC
NCI-TCGA novel	p.Arg1309His	missense variant	-	NC_000012.12:g.124348233C>T	NCI-TCGA
rs771667242	p.Arg1309Gly	missense variant	-	NC_000012.12:g.124348234G>C	ExAC,TOPMed,gnomAD
rs771667242	p.Arg1309Cys	missense variant	-	NC_000012.12:g.124348234G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr1311Asn	missense variant	-	NC_000012.12:g.124348228A>T	NCI-TCGA
rs938640240	p.Tyr1311His	missense variant	-	NC_000012.12:g.124348228A>G	gnomAD
rs771905073	p.Met1313Val	missense variant	-	NC_000012.12:g.124348222T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1316Asp	missense variant	-	NC_000012.12:g.124348212C>T	NCI-TCGA
rs1311309109	p.Gly1316Ser	missense variant	-	NC_000012.12:g.124348213C>T	gnomAD
rs963241705	p.Arg1317Cys	missense variant	-	NC_000012.12:g.124348210G>A	TOPMed,gnomAD
rs770110676	p.Arg1317His	missense variant	-	NC_000012.12:g.124348209C>T	ExAC,gnomAD
rs963241705	p.Arg1317Ser	missense variant	-	NC_000012.12:g.124348210G>T	TOPMed,gnomAD
rs201804156	p.Val1318Met	missense variant	-	NC_000012.12:g.124348207C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1166043371	p.Gly1319Asp	missense variant	-	NC_000012.12:g.124348203C>T	gnomAD
rs537038342	p.Arg1320Lys	missense variant	-	NC_000012.12:g.124348200C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ala1321Val	missense variant	-	NC_000012.12:g.124348197G>A	NCI-TCGA
rs747469159	p.Ala1321Pro	missense variant	-	NC_000012.12:g.124348198C>G	ExAC,TOPMed,gnomAD
rs747469159	p.Ala1321Thr	missense variant	-	NC_000012.12:g.124348198C>T	ExAC,TOPMed,gnomAD
rs1352318167	p.Ile1322Thr	missense variant	-	NC_000012.12:g.124348194A>G	TOPMed
rs777864841	p.Ile1322Val	missense variant	-	NC_000012.12:g.124348195T>C	ExAC,TOPMed,gnomAD
rs570066332	p.Ser1323Phe	missense variant	-	NC_000012.12:g.124348191G>A	1000Genomes,ExAC,gnomAD
rs1211830666	p.Ala1325Gly	missense variant	-	NC_000012.12:g.124348185G>C	TOPMed
rs765484301	p.Ala1325Thr	missense variant	-	NC_000012.12:g.124348186C>T	ExAC,TOPMed,gnomAD
rs765484301	p.Ala1325Pro	missense variant	-	NC_000012.12:g.124348186C>G	ExAC,TOPMed,gnomAD
COSM4039905	p.Ser1326Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124348182C>T	NCI-TCGA Cosmic
rs551561067	p.Ser1326Arg	missense variant	-	NC_000012.12:g.124348181G>C	1000Genomes,ExAC,gnomAD
rs1273765643	p.Glu1328Gln	missense variant	-	NC_000012.12:g.124348177C>G	gnomAD
COSM1677462	p.Glu1328Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124348177C>T	NCI-TCGA Cosmic
rs773779630	p.Gly1329Asp	missense variant	-	NC_000012.12:g.124347911C>T	ExAC,gnomAD
rs772604310	p.Leu1330Val	missense variant	-	NC_000012.12:g.124347909G>C	ExAC,TOPMed,gnomAD
rs779078857	p.Met1331Thr	missense variant	-	NC_000012.12:g.124347905A>G	ExAC,gnomAD
rs779078857	p.Met1331Arg	missense variant	-	NC_000012.12:g.124347905A>C	ExAC,gnomAD
rs1456420392	p.Met1331Val	missense variant	-	NC_000012.12:g.124347906T>C	gnomAD
rs768549126	p.Gly1332Arg	missense variant	-	NC_000012.12:g.124347903C>G	ExAC,TOPMed
rs1281085672	p.Gly1332Asp	missense variant	-	NC_000012.12:g.124347902C>T	TOPMed,gnomAD
rs768549126	p.Gly1332Cys	missense variant	-	NC_000012.12:g.124347903C>A	ExAC,TOPMed
rs562298385	p.Arg1333His	missense variant	-	NC_000012.12:g.124347899C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs372951859	p.Arg1333Cys	missense variant	-	NC_000012.12:g.124347900G>A	ESP,ExAC,TOPMed,gnomAD
rs372951859	p.Arg1333Ser	missense variant	-	NC_000012.12:g.124347900G>T	ESP,ExAC,TOPMed,gnomAD
COSM3688037	p.Pro1336Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124347890G>A	NCI-TCGA Cosmic
rs1431852599	p.Pro1336Ser	missense variant	-	NC_000012.12:g.124347891G>A	gnomAD
rs961135055	p.Pro1337Leu	missense variant	-	NC_000012.12:g.124347887G>A	TOPMed,gnomAD
rs757239625	p.Arg1339Gln	missense variant	-	NC_000012.12:g.124347881C>T	ExAC,TOPMed,gnomAD
rs1432352325	p.Ser1341Asn	missense variant	-	NC_000012.12:g.124347875C>T	gnomAD
rs1187033227	p.Pro1342Ser	missense variant	-	NC_000012.12:g.124347873G>A	gnomAD
rs1344512385	p.His1343Pro	missense variant	-	NC_000012.12:g.124347869T>G	TOPMed
rs1475075843	p.His1344Tyr	missense variant	-	NC_000012.12:g.124347867G>A	gnomAD
rs918629525	p.His1344Pro	missense variant	-	NC_000012.12:g.124347866T>G	TOPMed,gnomAD
rs1486752192	p.Leu1345Phe	missense variant	-	NC_000012.12:g.124347864G>A	gnomAD
rs1210176355	p.Glu1347Gly	missense variant	-	NC_000012.12:g.124347857T>C	gnomAD
NCI-TCGA novel	p.His1349Gln	missense variant	-	NC_000012.12:g.124347850G>T	NCI-TCGA
rs369478272	p.His1350Arg	missense variant	-	NC_000012.12:g.124347848T>C	ESP,TOPMed,gnomAD
rs762312602	p.Ile1351Val	missense variant	-	NC_000012.12:g.124347846T>C	ExAC,gnomAD
rs1215655648	p.Arg1352Cys	missense variant	-	NC_000012.12:g.124347843G>A	TOPMed,gnomAD
rs36081651	p.Arg1352His	missense variant	-	NC_000012.12:g.124347842C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1355644463	p.Gly1353Glu	missense variant	-	NC_000012.12:g.124347839C>T	gnomAD
rs1417045078	p.Gly1353Arg	missense variant	-	NC_000012.12:g.124347840C>T	gnomAD
rs1412614764	p.Ile1355Val	missense variant	-	NC_000012.12:g.124347834T>C	gnomAD
rs931860635	p.Gln1357Glu	missense variant	-	NC_000012.12:g.124347828G>C	TOPMed
rs1477466735	p.Gly1358Arg	missense variant	-	NC_000012.12:g.124347825C>T	TOPMed
rs1455175196	p.Arg1361Trp	missense variant	-	NC_000012.12:g.124346842G>A	gnomAD
rs753419084	p.Arg1361Pro	missense variant	-	NC_000012.12:g.124346841C>G	ExAC,gnomAD
rs1418778916	p.Ser1362Phe	missense variant	-	NC_000012.12:g.124346838G>A	gnomAD
rs1378527765	p.Tyr1363Cys	missense variant	-	NC_000012.12:g.124346835T>C	gnomAD
rs577005727	p.Val1364Met	missense variant	-	NC_000012.12:g.124346833C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs774985221	p.Val1364Ala	missense variant	-	NC_000012.12:g.124346832A>G	ExAC,gnomAD
rs763173120	p.Glu1365Asp	missense variant	-	NC_000012.12:g.124346828C>A	ExAC,TOPMed,gnomAD
rs1261746365	p.Glu1368Lys	missense variant	-	NC_000012.12:g.124346821C>T	gnomAD
rs775732832	p.Asp1369Tyr	missense variant	-	NC_000012.12:g.124346818C>A	ExAC,TOPMed,gnomAD
rs1314818650	p.Asp1369Gly	missense variant	-	NC_000012.12:g.124346817T>C	gnomAD
rs1281806775	p.Tyr1370Cys	missense variant	-	NC_000012.12:g.124346814T>C	gnomAD
rs748581002	p.Arg1372His	missense variant	-	NC_000012.12:g.124346808C>T	ExAC,TOPMed,gnomAD
rs376819174	p.Arg1373Trp	missense variant	-	NC_000012.12:g.124346806G>A	ESP,ExAC,TOPMed,gnomAD
rs746775179	p.Arg1373Leu	missense variant	-	NC_000012.12:g.124346805C>A	ExAC
rs746775179	p.Arg1373Gln	missense variant	-	NC_000012.12:g.124346805C>T	ExAC
rs1288120830	p.Glu1374Asp	missense variant	-	NC_000012.12:g.124346801C>G	TOPMed,gnomAD
rs1358897644	p.Leu1377His	missense variant	-	NC_000012.12:g.124346793A>T	TOPMed,gnomAD
rs1453281999	p.Leu1377Phe	missense variant	-	NC_000012.12:g.124346794G>A	gnomAD
rs1358897644	p.Leu1377Pro	missense variant	-	NC_000012.12:g.124346793A>G	TOPMed,gnomAD
rs1294600225	p.Arg1380Trp	missense variant	-	NC_000012.12:g.124346785G>A	TOPMed
rs372172146	p.Arg1380Pro	missense variant	-	NC_000012.12:g.124346784C>G	ESP,ExAC,TOPMed,gnomAD
rs372172146	p.Arg1380Gln	missense variant	-	NC_000012.12:g.124346784C>T	ESP,ExAC,TOPMed,gnomAD
rs1394930860	p.Glu1381Ala	missense variant	-	NC_000012.12:g.124346781T>G	gnomAD
rs748031692	p.Glu1381Lys	missense variant	-	NC_000012.12:g.124346782C>T	ExAC,gnomAD
rs984709723	p.Thr1383Ser	missense variant	-	NC_000012.12:g.124346776T>A	TOPMed,gnomAD
rs1262846123	p.Thr1383Met	missense variant	-	NC_000012.12:g.124346775G>A	gnomAD
rs1484667878	p.Pro1384Arg	missense variant	-	NC_000012.12:g.124346772G>C	gnomAD
rs753582344	p.Pro1385Leu	missense variant	-	NC_000012.12:g.124346769G>A	ExAC,TOPMed,gnomAD
rs1004180765	p.Pro1386Ser	missense variant	-	NC_000012.12:g.124346767G>A	gnomAD
rs757675812	p.Pro1386His	missense variant	-	NC_000012.12:g.124346766G>T	ExAC,gnomAD
rs1308047345	p.Pro1387Ser	missense variant	-	NC_000012.12:g.124346764G>A	gnomAD
rs764503618	p.Pro1388Thr	missense variant	-	NC_000012.12:g.124346761G>T	ExAC,gnomAD
rs763585077	p.Pro1388Leu	missense variant	-	NC_000012.12:g.124346760G>A	ExAC,gnomAD
rs1374909069	p.Arg1391Gln	missense variant	-	NC_000012.12:g.124346751C>T	TOPMed,gnomAD
rs759677157	p.Arg1391Trp	missense variant	-	NC_000012.12:g.124346752G>A	ExAC,TOPMed,gnomAD
rs1463955435	p.Thr1394Ala	missense variant	-	NC_000012.12:g.124346743T>C	gnomAD
rs1170132510	p.Glu1395Lys	missense variant	-	NC_000012.12:g.124346740C>T	gnomAD
rs1430775402	p.Ala1396Thr	missense variant	-	NC_000012.12:g.124346737C>T	TOPMed
rs1477054953	p.Tyr1397Phe	missense variant	-	NC_000012.12:g.124346733T>A	gnomAD
rs772907809	p.Lys1398Arg	missense variant	-	NC_000012.12:g.124346730T>C	ExAC,TOPMed,gnomAD
rs115154917	p.Thr1399Met	missense variant	-	NC_000012.12:g.124346727G>A	1000Genomes,TOPMed,gnomAD
rs1197069888	p.Ala1401Ser	missense variant	-	NC_000012.12:g.124346722C>A	gnomAD
rs1250700317	p.Leu1402Val	missense variant	-	NC_000012.12:g.124346719G>C	TOPMed,gnomAD
rs1336665411	p.Pro1404Leu	missense variant	-	NC_000012.12:g.124346712G>A	gnomAD
rs1224878929	p.Pro1404Ser	missense variant	-	NC_000012.12:g.124346713G>A	gnomAD
COSM1359899	p.Leu1405Ter	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.124346710G>-	NCI-TCGA Cosmic
rs1456935941	p.Leu1407Pro	missense variant	-	NC_000012.12:g.124346703A>G	TOPMed
rs748088671	p.Pro1409Leu	missense variant	-	NC_000012.12:g.124346697G>A	ExAC,TOPMed,gnomAD
rs748712433	p.Ala1410Ser	missense variant	-	NC_000012.12:g.124346695C>A	ExAC,TOPMed,gnomAD
rs748712433	p.Ala1410Thr	missense variant	-	NC_000012.12:g.124346695C>T	ExAC,TOPMed,gnomAD
rs1298109056	p.Gly1413Asp	missense variant	-	NC_000012.12:g.124346685C>T	gnomAD
rs540408438	p.Ala1416Thr	missense variant	-	NC_000012.12:g.124346677C>T	1000Genomes,ExAC,gnomAD
rs755745308	p.Thr1417Met	missense variant	-	NC_000012.12:g.124346673G>A	ExAC,TOPMed,gnomAD
rs1474652241	p.Ala1421Val	missense variant	-	NC_000012.12:g.124346661G>A	gnomAD
rs1183274636	p.Arg1423Cys	missense variant	-	NC_000012.12:g.124346656G>A	gnomAD
rs758779755	p.Arg1423His	missense variant	-	NC_000012.12:g.124346655C>T	ExAC,TOPMed,gnomAD
rs753316257	p.His1426Asp	missense variant	-	NC_000012.12:g.124346647G>C	ExAC,gnomAD
rs753316257	p.His1426Tyr	missense variant	-	NC_000012.12:g.124346647G>A	ExAC,gnomAD
rs1212874179	p.Pro1429Ser	missense variant	-	NC_000012.12:g.124346638G>A	gnomAD
rs765835703	p.Pro1429Leu	missense variant	-	NC_000012.12:g.124346637G>A	ExAC,gnomAD
rs766436926	p.Arg1430His	missense variant	-	NC_000012.12:g.124346634C>T	ExAC,gnomAD
rs375559461	p.Arg1430Ser	missense variant	-	NC_000012.12:g.124346635G>T	ESP,ExAC,TOPMed,gnomAD
rs375559461	p.Arg1430Cys	missense variant	-	NC_000012.12:g.124346635G>A	ESP,ExAC,TOPMed,gnomAD
rs773358840	p.Glu1431Lys	missense variant	-	NC_000012.12:g.124346632C>T	ExAC,TOPMed,gnomAD
rs1326939043	p.Leu1433Pro	missense variant	-	NC_000012.12:g.124346625A>G	gnomAD
rs771909123	p.Arg1434Trp	missense variant	-	NC_000012.12:g.124346623G>A	ExAC,TOPMed,gnomAD
rs1159930182	p.Arg1434Gln	missense variant	-	NC_000012.12:g.124346622C>T	TOPMed,gnomAD
rs768554479	p.Thr1436Ala	missense variant	-	NC_000012.12:g.124346617T>C	ExAC,gnomAD
rs749200427	p.Thr1436Met	missense variant	-	NC_000012.12:g.124346616G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1437Ser	missense variant	-	NC_000012.12:g.124346614G>A	NCI-TCGA
rs769278609	p.Pro1437Arg	missense variant	-	NC_000012.12:g.124346613G>C	ExAC,gnomAD
rs1455150240	p.Glu1438Lys	missense variant	-	NC_000012.12:g.124346611C>T	TOPMed
rs780980136	p.Pro1440Ser	missense variant	-	NC_000012.12:g.124346605G>A	ExAC,gnomAD
rs753079885	p.Leu1441Pro	missense variant	-	NC_000012.12:g.124346601A>G	ExAC,TOPMed,gnomAD
rs758901108	p.Leu1441Met	missense variant	-	NC_000012.12:g.124346602G>T	ExAC,gnomAD
COSM3457804	p.Ala1442Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124346598G>A	NCI-TCGA Cosmic
COSM3457802	p.Pro1443Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124346596G>A	NCI-TCGA Cosmic
rs755465649	p.Pro1443Leu	missense variant	-	NC_000012.12:g.124346595G>A	ExAC,TOPMed,gnomAD
rs766376384	p.Arg1444Trp	missense variant	-	NC_000012.12:g.124346593G>A	ExAC,gnomAD
rs1440902243	p.Arg1444Gln	missense variant	-	NC_000012.12:g.124346592C>T	TOPMed,gnomAD
rs750708611	p.Pro1445Leu	missense variant	-	NC_000012.12:g.124346589G>A	ExAC,TOPMed,gnomAD
rs760753393	p.Pro1445Ser	missense variant	-	NC_000012.12:g.124346590G>A	ExAC,TOPMed,gnomAD
rs750708611	p.Pro1445Gln	missense variant	-	NC_000012.12:g.124346589G>T	ExAC,TOPMed,gnomAD
rs774153308	p.Lys1447Asn	missense variant	-	NC_000012.12:g.124346582C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1448Ter	stop gained	-	NC_000012.12:g.124346581C>A	NCI-TCGA
rs1436062538	p.Ser1450Thr	missense variant	-	NC_000012.12:g.124346575A>T	gnomAD
rs768456898	p.Ile1451Val	missense variant	-	NC_000012.12:g.124346572T>C	ExAC,TOPMed,gnomAD
rs762802450	p.Thr1452Met	missense variant	-	NC_000012.12:g.124346568G>A	ExAC,gnomAD
rs746668940	p.Thr1455Asn	missense variant	-	NC_000012.12:g.124344947G>T	ExAC,gnomAD
rs865996390	p.Pro1456Leu	missense variant	-	NC_000012.12:g.124344944G>A	TOPMed,gnomAD
rs1169139091	p.Tyr1459Cys	missense variant	-	NC_000012.12:g.124344935T>C	gnomAD
rs1476285882	p.Asp1460Asn	missense variant	-	NC_000012.12:g.124344933C>T	gnomAD
rs781253968	p.Gly1462Arg	missense variant	-	NC_000012.12:g.124344927C>G	ExAC,TOPMed,gnomAD
rs781253968	p.Gly1462Ser	missense variant	-	NC_000012.12:g.124344927C>T	ExAC,TOPMed,gnomAD
rs373008881	p.Ala1463Ser	missense variant	-	NC_000012.12:g.124344924C>A	ESP,ExAC,TOPMed,gnomAD
rs373008881	p.Ala1463Thr	missense variant	-	NC_000012.12:g.124344924C>T	ESP,ExAC,TOPMed,gnomAD
rs1205820050	p.Ala1463Val	missense variant	-	NC_000012.12:g.124344923G>A	TOPMed,gnomAD
rs375849244	p.Ser1464Tyr	missense variant	-	NC_000012.12:g.124344920G>T	ESP,ExAC,TOPMed,gnomAD
rs979887502	p.Thr1465Ile	missense variant	-	NC_000012.12:g.124344917G>A	TOPMed
NCI-TCGA novel	p.Thr1466Ala	missense variant	-	NC_000012.12:g.124344915T>C	NCI-TCGA
rs752514577	p.Ser1468Cys	missense variant	-	NC_000012.12:g.124344908G>C	ExAC,TOPMed,gnomAD
rs752514577	p.Ser1468Phe	missense variant	-	NC_000012.12:g.124344908G>A	ExAC,TOPMed,gnomAD
rs1335010303	p.Lys1469Glu	missense variant	-	NC_000012.12:g.124344906T>C	gnomAD
rs374057697	p.Asp1472Asn	missense variant	-	NC_000012.12:g.124344897C>T	ESP,ExAC,TOPMed,gnomAD
rs1458942885	p.Val1473Ile	missense variant	-	NC_000012.12:g.124344894C>T	TOPMed
rs926308556	p.Arg1474Ser	missense variant	-	NC_000012.12:g.124344891G>T	TOPMed,gnomAD
rs867704636	p.Arg1474His	missense variant	-	NC_000012.12:g.124344890C>T	TOPMed,gnomAD
rs926308556	p.Arg1474Cys	missense variant	-	NC_000012.12:g.124344891G>A	TOPMed,gnomAD
rs1327608180	p.Leu1476Phe	missense variant	-	NC_000012.12:g.124344885G>A	TOPMed,gnomAD
rs1327608180	p.Leu1476Val	missense variant	-	NC_000012.12:g.124344885G>C	TOPMed,gnomAD
rs1464745475	p.Ile1477Val	missense variant	-	NC_000012.12:g.124344882T>C	TOPMed
rs776647943	p.Gly1478Ser	missense variant	-	NC_000012.12:g.124344879C>T	ExAC,gnomAD
rs1403874732	p.Ser1479Arg	missense variant	-	NC_000012.12:g.124344874G>C	gnomAD
rs1402840151	p.Pro1480Arg	missense variant	-	NC_000012.12:g.124344872G>C	TOPMed
rs1439581131	p.Gly1481Asp	missense variant	-	NC_000012.12:g.124344869C>T	gnomAD
rs368957269	p.Gly1481Ser	missense variant	-	NC_000012.12:g.124344870C>T	ESP,ExAC,TOPMed,gnomAD
rs771730352	p.Arg1482Trp	missense variant	-	NC_000012.12:g.124344867G>A	ExAC,TOPMed,gnomAD
rs376657965	p.Arg1482Gln	missense variant	-	NC_000012.12:g.124344866C>T	ESP,ExAC,TOPMed,gnomAD
rs775950602	p.Thr1483Met	missense variant	-	NC_000012.12:g.124344863G>A	ExAC,TOPMed,gnomAD
rs775950602	p.Thr1483Lys	missense variant	-	NC_000012.12:g.124344863G>T	ExAC,TOPMed,gnomAD
COSM3457799	p.Pro1485Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124344857G>A	NCI-TCGA Cosmic
rs1008945586	p.Pro1485Ala	missense variant	-	NC_000012.12:g.124344858G>C	TOPMed,gnomAD
rs1238817288	p.Pro1486Ser	missense variant	-	NC_000012.12:g.124344855G>A	gnomAD
rs770077319	p.Pro1486His	missense variant	-	NC_000012.12:g.124344854G>T	ExAC,gnomAD
rs781654152	p.Val1487Met	missense variant	-	NC_000012.12:g.124344852C>T	ExAC,TOPMed,gnomAD
rs771064688	p.His1488Tyr	missense variant	-	NC_000012.12:g.124344849G>A	ExAC,gnomAD
rs956284785	p.Pro1489Leu	missense variant	-	NC_000012.12:g.124344845G>A	TOPMed,gnomAD
rs1347211997	p.Leu1490Pro	missense variant	-	NC_000012.12:g.124344842A>G	TOPMed,gnomAD
rs1164577873	p.Asp1491Gly	missense variant	-	NC_000012.12:g.124344839T>C	TOPMed
rs1419174855	p.Asp1491Tyr	missense variant	-	NC_000012.12:g.124344840C>A	TOPMed,gnomAD
rs1164577873	p.Asp1491Ala	missense variant	-	NC_000012.12:g.124344839T>G	TOPMed
rs1348615213	p.Met1493Val	missense variant	-	NC_000012.12:g.124344834T>C	TOPMed
rs1378618092	p.Met1493Ile	missense variant	-	NC_000012.12:g.124344832C>T	gnomAD
rs866780446	p.Ala1494Val	missense variant	-	NC_000012.12:g.124344830G>A	gnomAD
rs371737548	p.Asp1495Asn	missense variant	-	NC_000012.12:g.124344828C>T	ESP,ExAC,TOPMed,gnomAD
rs781223466	p.Ala1496Thr	missense variant	-	NC_000012.12:g.124344825C>T	ExAC,gnomAD
rs1242350276	p.Arg1497Trp	missense variant	-	NC_000012.12:g.124344822G>A	TOPMed,gnomAD
rs778778124	p.Arg1497Gln	missense variant	-	NC_000012.12:g.124344821C>T	ExAC,TOPMed,gnomAD
rs1281921027	p.Ala1498Glu	missense variant	-	NC_000012.12:g.124344818G>T	gnomAD
rs1341422685	p.Leu1499Val	missense variant	-	NC_000012.12:g.124344816G>C	TOPMed
rs754766110	p.Arg1501Gly	missense variant	-	NC_000012.12:g.124344810G>C	ExAC,TOPMed,gnomAD
rs754766110	p.Arg1501Cys	missense variant	-	NC_000012.12:g.124344810G>A	ExAC,TOPMed,gnomAD
rs753887869	p.Arg1501His	missense variant	-	NC_000012.12:g.124344809C>T	ExAC,TOPMed,gnomAD
rs1216134350	p.Ala1502Asp	missense variant	-	NC_000012.12:g.124344806G>T	gnomAD
rs766417938	p.Ala1502Thr	missense variant	-	NC_000012.12:g.124344807C>T	ExAC,TOPMed,gnomAD
rs766417938	p.Ala1502Ser	missense variant	-	NC_000012.12:g.124344807C>A	ExAC,TOPMed,gnomAD
rs1216134350	p.Ala1502Val	missense variant	-	NC_000012.12:g.124344806G>A	gnomAD
rs888041970	p.Glu1505Lys	missense variant	-	NC_000012.12:g.124344798C>T	gnomAD
rs1418216630	p.Glu1506Asp	missense variant	-	NC_000012.12:g.124344793C>G	gnomAD
rs1399690696	p.Glu1506Lys	missense variant	-	NC_000012.12:g.124344795C>T	gnomAD
rs749968799	p.Ser1507Arg	missense variant	-	NC_000012.12:g.124344790G>T	ExAC,TOPMed,gnomAD
rs1358678070	p.Ser1507Arg	missense variant	-	NC_000012.12:g.124344792T>G	TOPMed,gnomAD
rs1377576823	p.Ser1510Asn	missense variant	-	NC_000012.12:g.124344782C>T	gnomAD
rs1213899410	p.Arg1511Trp	missense variant	-	NC_000012.12:g.124344780G>A	TOPMed
rs1174323548	p.Arg1511Gln	missense variant	-	NC_000012.12:g.124344779C>T	TOPMed,gnomAD
COSM936708	p.Thr1514Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124344771T>C	NCI-TCGA Cosmic
rs1430670883	p.Thr1514Ser	missense variant	-	NC_000012.12:g.124344771T>A	TOPMed,gnomAD
rs896684336	p.Ala1515Ser	missense variant	-	NC_000012.12:g.124344768C>A	TOPMed,gnomAD
rs896684336	p.Ala1515Thr	missense variant	-	NC_000012.12:g.124344768C>T	TOPMed,gnomAD
rs1487135037	p.Ser1516Asn	missense variant	-	NC_000012.12:g.124344764C>T	gnomAD
rs75902515	p.Ser1518Thr	missense variant	-	NC_000012.12:g.124344759A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761530904	p.Ser1518Leu	missense variant	-	NC_000012.12:g.124344758G>A	ExAC,TOPMed,gnomAD
rs1254192265	p.Gly1519Glu	missense variant	-	NC_000012.12:g.124344755C>T	gnomAD
NCI-TCGA novel	p.Gly1520AlaPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.124344752C>-	NCI-TCGA
rs926260945	p.Gly1520Val	missense variant	-	NC_000012.12:g.124344752C>A	TOPMed
rs770202149	p.Gly1520Ser	missense variant	-	NC_000012.12:g.124344753C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1521LeuPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.124344751_124344752insC	NCI-TCGA
rs1218215285	p.Ile1522Val	missense variant	-	NC_000012.12:g.124344747T>C	TOPMed,gnomAD
rs1376618571	p.Ile1522Asn	missense variant	-	NC_000012.12:g.124344746A>T	TOPMed
rs1218215285	p.Ile1522Leu	missense variant	-	NC_000012.12:g.124344747T>G	TOPMed,gnomAD
rs1295146759	p.Ala1523Thr	missense variant	-	NC_000012.12:g.124344744C>T	gnomAD
rs1396687230	p.Ala1523Val	missense variant	-	NC_000012.12:g.124344743G>A	TOPMed,gnomAD
rs759889293	p.Arg1524Cys	missense variant	-	NC_000012.12:g.124344741G>A	ExAC,TOPMed,gnomAD
rs1464033335	p.Arg1524His	missense variant	-	NC_000012.12:g.124344740C>T	TOPMed,gnomAD
rs565303494	p.Gly1525Ser	missense variant	-	NC_000012.12:g.124344738C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1376009336	p.Ala1526Val	missense variant	-	NC_000012.12:g.124344734G>A	gnomAD
rs988342697	p.Ala1526Thr	missense variant	-	NC_000012.12:g.124344735C>T	TOPMed,gnomAD
rs1422734998	p.Pro1527Leu	missense variant	-	NC_000012.12:g.124344731G>A	gnomAD
rs917396615	p.Pro1527Ser	missense variant	-	NC_000012.12:g.124344732G>A	TOPMed,gnomAD
rs917396615	p.Pro1527Thr	missense variant	-	NC_000012.12:g.124344732G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Val1528Ala	missense variant	-	NC_000012.12:g.124344728A>G	NCI-TCGA
rs1458187370	p.Ile1529Leu	missense variant	-	NC_000012.12:g.124344726T>G	gnomAD
rs1316232520	p.Lys1535Asn	missense variant	-	NC_000012.12:g.124344706C>A	gnomAD
rs1245889992	p.Pro1536Leu	missense variant	-	NC_000012.12:g.124344704G>A	gnomAD
rs866436784	p.Pro1536Ser	missense variant	-	NC_000012.12:g.124344705G>A	gnomAD
rs1310731588	p.Arg1537Trp	missense variant	-	NC_000012.12:g.124344702G>A	TOPMed,gnomAD
rs1393615399	p.Arg1537Gln	missense variant	-	NC_000012.12:g.124344701C>T	gnomAD
rs1331045609	p.Gln1538Arg	missense variant	-	NC_000012.12:g.124344698T>C	gnomAD
rs754890750	p.Gln1538Glu	missense variant	-	NC_000012.12:g.124344699G>C	ExAC,gnomAD
rs754890750	p.Gln1538Lys	missense variant	-	NC_000012.12:g.124344699G>T	ExAC,gnomAD
rs1464407664	p.Ser1539Ile	missense variant	-	NC_000012.12:g.124344695C>A	gnomAD
rs753660561	p.Pro1540Ser	missense variant	-	NC_000012.12:g.124344693G>A	ExAC,gnomAD
rs756150078	p.Leu1541Val	missense variant	-	NC_000012.12:g.124344690G>C	ExAC,TOPMed,gnomAD
rs1440182431	p.Thr1542Ile	missense variant	-	NC_000012.12:g.124344686G>A	TOPMed,gnomAD
rs1176473269	p.Glu1544Asp	missense variant	-	NC_000012.12:g.124344679C>A	gnomAD
rs1409897546	p.Asp1545Glu	missense variant	-	NC_000012.12:g.124344676G>C	gnomAD
rs1267871841	p.Gly1547Arg	missense variant	-	NC_000012.12:g.124344672C>T	gnomAD
rs1210639232	p.Gly1547Val	missense variant	-	NC_000012.12:g.124344671C>A	gnomAD
rs1263717715	p.Ala1548Thr	missense variant	-	NC_000012.12:g.124344669C>T	gnomAD
rs1241309144	p.Ala1548Val	missense variant	-	NC_000012.12:g.124344668G>A	TOPMed,gnomAD
rs1354982238	p.Pro1549Ala	missense variant	-	NC_000012.12:g.124344666G>C	TOPMed,gnomAD
rs1354982238	p.Pro1549Ser	missense variant	-	NC_000012.12:g.124344666G>A	TOPMed,gnomAD
rs1445305359	p.Phe1550Leu	missense variant	-	NC_000012.12:g.124344663A>G	gnomAD
rs182638003	p.Gly1552Ser	missense variant	-	NC_000012.12:g.124344657C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1385833527	p.His1553Tyr	missense variant	-	NC_000012.12:g.124344654G>A	gnomAD
rs1325302260	p.Arg1556Gln	missense variant	-	NC_000012.12:g.124344644C>T	TOPMed
rs1388160250	p.Gly1557Asp	missense variant	-	NC_000012.12:g.124344641C>T	gnomAD
rs751292220	p.Ser1558Leu	missense variant	-	NC_000012.12:g.124344638G>A	ExAC,TOPMed,gnomAD
rs2229841	p.Val1560Met	missense variant	-	NC_000012.12:g.124344633C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1455571371	p.Thr1562Lys	missense variant	-	NC_000012.12:g.124344626G>T	TOPMed,gnomAD
rs1455571371	p.Thr1562Met	missense variant	-	NC_000012.12:g.124344626G>A	TOPMed,gnomAD
rs1197943035	p.Arg1563Trp	missense variant	-	NC_000012.12:g.124344624G>A	gnomAD
rs1001933048	p.Arg1563Gln	missense variant	-	NC_000012.12:g.124344623C>T	TOPMed,gnomAD
rs1170943920	p.Pro1565Ala	missense variant	-	NC_000012.12:g.124344618G>C	TOPMed
rs139412138	p.Thr1566Met	missense variant	-	NC_000012.12:g.124344614G>A	1000Genomes,gnomAD
rs1488656817	p.Pro1567Leu	missense variant	-	NC_000012.12:g.124344611G>A	TOPMed,gnomAD
rs946368097	p.Arg1568His	missense variant	-	NC_000012.12:g.124344608C>T	TOPMed,gnomAD
rs1238567659	p.Arg1568Cys	missense variant	-	NC_000012.12:g.124344609G>A	TOPMed,gnomAD
rs1275756142	p.Glu1571Gln	missense variant	-	NC_000012.12:g.124344600C>G	TOPMed,gnomAD
rs751048329	p.Ser1573Gly	missense variant	-	NC_000012.12:g.124343224T>C	ExAC,gnomAD
rs763546462	p.Ser1573Arg	missense variant	-	NC_000012.12:g.124343222G>C	ExAC,TOPMed,gnomAD
rs181834930	p.Ser1575Leu	missense variant	-	NC_000012.12:g.124343217G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766746478	p.Ser1577Thr	missense variant	-	NC_000012.12:g.124343211C>G	ExAC,gnomAD
rs1283146524	p.Ser1577Arg	missense variant	-	NC_000012.12:g.124343210G>T	gnomAD
rs766746478	p.Ser1577Asn	missense variant	-	NC_000012.12:g.124343211C>T	ExAC,gnomAD
rs766746478	p.Ser1577Ile	missense variant	-	NC_000012.12:g.124343211C>A	ExAC,gnomAD
rs1445674950	p.Ala1579Ser	missense variant	-	NC_000012.12:g.124343206C>A	gnomAD
rs1331717285	p.Ser1580Tyr	missense variant	-	NC_000012.12:g.124343202G>T	gnomAD
rs1331717285	p.Ser1580Cys	missense variant	-	NC_000012.12:g.124343202G>C	gnomAD
NCI-TCGA novel	p.Arg1583Ter	stop gained	-	NC_000012.12:g.124343194G>A	NCI-TCGA
rs1445774603	p.Arg1583Gln	missense variant	-	NC_000012.12:g.124343193C>T	TOPMed,gnomAD
rs760936512	p.Thr1586Met	missense variant	-	NC_000012.12:g.124343184G>A	ExAC,gnomAD
rs767883030	p.Ser1587Leu	missense variant	-	NC_000012.12:g.124343181G>A	ExAC,TOPMed,gnomAD
rs774599894	p.Thr1588Met	missense variant	-	NC_000012.12:g.124343178G>A	ExAC,gnomAD
rs941902871	p.Arg1590Cys	missense variant	-	NC_000012.12:g.124343173G>A	TOPMed,gnomAD
rs749531672	p.Arg1590His	missense variant	-	NC_000012.12:g.124343172C>T	ExAC,TOPMed,gnomAD
rs1236797882	p.Ile1592Leu	missense variant	-	NC_000012.12:g.124343167T>G	gnomAD
rs200976796	p.Ala1593Thr	missense variant	-	NC_000012.12:g.124343164C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200976796	p.Ala1593Ser	missense variant	-	NC_000012.12:g.124343164C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1595Phe	missense variant	-	NC_000012.12:g.124343157G>A	NCI-TCGA
rs757164770	p.Pro1596Leu	missense variant	-	NC_000012.12:g.124343154G>A	ExAC,TOPMed,gnomAD
rs1226127696	p.Pro1596Ala	missense variant	-	NC_000012.12:g.124343155G>C	gnomAD
rs1426693435	p.His1597Arg	missense variant	-	NC_000012.12:g.124343151T>C	TOPMed
rs562907623	p.Val1600Met	missense variant	-	NC_000012.12:g.124343143C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1438829063	p.Glu1602Lys	missense variant	-	NC_000012.12:g.124343137C>T	TOPMed,gnomAD
rs1438829063	p.Glu1602Gln	missense variant	-	NC_000012.12:g.124343137C>G	TOPMed,gnomAD
rs752408513	p.Pro1605Arg	missense variant	-	NC_000012.12:g.124343127G>C	ExAC,TOPMed,gnomAD
rs764796176	p.His1606Asp	missense variant	-	NC_000012.12:g.124343125G>C	ExAC,gnomAD
rs1422827647	p.His1606Arg	missense variant	-	NC_000012.12:g.124343124T>C	gnomAD
rs756545481	p.His1606Gln	missense variant	-	NC_000012.12:g.124343123G>T	ExAC,gnomAD
rs750734387	p.Ile1608Val	missense variant	-	NC_000012.12:g.124343119T>C	ExAC,TOPMed,gnomAD
rs767880178	p.Ser1609Leu	missense variant	-	NC_000012.12:g.124343115G>A	ExAC,TOPMed,gnomAD
rs184244414	p.Pro1610Thr	missense variant	-	NC_000012.12:g.124343113G>T	1000Genomes,ExAC,gnomAD
rs1245771214	p.Pro1610Leu	missense variant	-	NC_000012.12:g.124343112G>A	gnomAD
rs764323897	p.Tyr1611Cys	missense variant	-	NC_000012.12:g.124343109T>C	ExAC,TOPMed,gnomAD
rs775894352	p.His1613Arg	missense variant	-	NC_000012.12:g.124343103T>C	ExAC,gnomAD
rs759755053	p.Leu1615Phe	missense variant	-	NC_000012.12:g.124343098G>A	ExAC,TOPMed,gnomAD
rs776321587	p.Arg1616Leu	missense variant	-	NC_000012.12:g.124343094C>A	ExAC,TOPMed,gnomAD
rs776321587	p.Arg1616Gln	missense variant	-	NC_000012.12:g.124343094C>T	ExAC,TOPMed,gnomAD
rs944324049	p.Arg1616Trp	missense variant	-	NC_000012.12:g.124343095G>A	TOPMed,gnomAD
rs544348683	p.Val1618Met	missense variant	-	NC_000012.12:g.124343089C>T	ExAC,TOPMed,gnomAD
rs1241890570	p.Ser1619Asn	missense variant	-	NC_000012.12:g.124343085C>T	TOPMed
rs747630707	p.Val1621Met	missense variant	-	NC_000012.12:g.124343080C>T	ExAC,TOPMed,gnomAD
rs1343960634	p.Val1621Ala	missense variant	-	NC_000012.12:g.124343079A>G	gnomAD
rs1178595113	p.Leu1623Val	missense variant	-	NC_000012.12:g.124343074G>C	TOPMed,gnomAD
rs1168412528	p.Arg1625Gly	missense variant	-	NC_000012.12:g.124343068G>C	TOPMed,gnomAD
rs778680158	p.Arg1625His	missense variant	-	NC_000012.12:g.124343067C>T	ExAC,TOPMed,gnomAD
rs1168412528	p.Arg1625Cys	missense variant	-	NC_000012.12:g.124343068G>A	TOPMed,gnomAD
rs1189077779	p.Ile1628Val	missense variant	-	NC_000012.12:g.124343059T>C	gnomAD
rs1478620488	p.Pro1629Arg	missense variant	-	NC_000012.12:g.124343055G>C	gnomAD
rs1487235909	p.Phe1632Ser	missense variant	-	NC_000012.12:g.124343046A>G	TOPMed,gnomAD
rs764663064	p.Asp1633Glu	missense variant	-	NC_000012.12:g.124343042G>C	ExAC,TOPMed,gnomAD
rs757680524	p.Asp1633Asn	missense variant	-	NC_000012.12:g.124343044C>T	ExAC,TOPMed,gnomAD
rs1298992684	p.Pro1634Thr	missense variant	-	NC_000012.12:g.124343041G>T	gnomAD
rs1342647598	p.Ile1637Thr	missense variant	-	NC_000012.12:g.124343031A>G	gnomAD
rs1278856253	p.Pro1638Leu	missense variant	-	NC_000012.12:g.124343028G>A	gnomAD
rs765320802	p.Arg1639Cys	missense variant	-	NC_000012.12:g.124343026G>A	ExAC,gnomAD
rs765320802	p.Arg1639Gly	missense variant	-	NC_000012.12:g.124343026G>C	ExAC,gnomAD
rs369522120	p.Arg1639His	missense variant	-	NC_000012.12:g.124343025C>T	ESP,ExAC,gnomAD
rs746232771	p.Gly1640Ser	missense variant	-	NC_000012.12:g.124343023C>T	gnomAD
rs1463013599	p.Ile1641Phe	missense variant	-	NC_000012.12:g.124343020T>A	TOPMed
rs1358916438	p.Leu1643Arg	missense variant	-	NC_000012.12:g.124343013A>C	gnomAD
COSM3368715	p.Leu1643Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124343013A>T	NCI-TCGA Cosmic
rs1174763984	p.Asp1644Asn	missense variant	-	NC_000012.12:g.124343011C>T	gnomAD
rs1423915563	p.Ala1645Thr	missense variant	-	NC_000012.12:g.124343008C>T	TOPMed,gnomAD
rs771980299	p.Ala1645Glu	missense variant	-	NC_000012.12:g.124343007G>T	ExAC,gnomAD
rs1423915563	p.Ala1645Ser	missense variant	-	NC_000012.12:g.124343008C>A	TOPMed,gnomAD
rs771980299	p.Ala1645Val	missense variant	-	NC_000012.12:g.124343007G>A	ExAC,gnomAD
rs756364272	p.Ala1647Thr	missense variant	-	NC_000012.12:g.124342072C>T	ExAC,TOPMed,gnomAD
rs756364272	p.Ala1647Ser	missense variant	-	NC_000012.12:g.124342072C>A	ExAC,TOPMed,gnomAD
rs750582314	p.Ala1648Thr	missense variant	-	NC_000012.12:g.124342069C>T	ExAC,gnomAD
rs774193502	p.Arg1653Gln	missense variant	-	NC_000012.12:g.124342053C>T	ExAC,TOPMed,gnomAD
rs761661732	p.Arg1653Gly	missense variant	-	NC_000012.12:g.124342054G>C	ExAC,gnomAD
rs1436234350	p.Ala1656Pro	missense variant	-	NC_000012.12:g.124342045C>G	gnomAD
rs762749243	p.Pro1657Ser	missense variant	-	NC_000012.12:g.124342042G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asn1658ThrPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.124342040G>-	NCI-TCGA
NCI-TCGA novel	p.Pro1659Thr	missense variant	-	NC_000012.12:g.124342036G>T	NCI-TCGA
rs775170362	p.Thr1660Ile	missense variant	-	NC_000012.12:g.124342032G>A	ExAC,gnomAD
rs1219398293	p.Tyr1661His	missense variant	-	NC_000012.12:g.124342030A>G	gnomAD
rs769363112	p.Pro1662Leu	missense variant	-	NC_000012.12:g.124342026G>A	ExAC,TOPMed,gnomAD
rs1333254097	p.His1663Gln	missense variant	-	NC_000012.12:g.124342022G>T	gnomAD
rs776411023	p.Pro1666Ser	missense variant	-	NC_000012.12:g.124342015G>A	ExAC,gnomAD
COSM4039898	p.Pro1667Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124342011G>A	NCI-TCGA Cosmic
rs1453182791	p.Tyr1668Cys	missense variant	-	NC_000012.12:g.124342008T>C	TOPMed
rs772634427	p.Ile1670Val	missense variant	-	NC_000012.12:g.124342003T>C	ExAC,gnomAD
rs1247399574	p.Ile1670Thr	missense variant	-	NC_000012.12:g.124342002A>G	TOPMed
rs748517349	p.Arg1671Cys	missense variant	-	NC_000012.12:g.124342000G>A	ExAC,TOPMed,gnomAD
rs779340578	p.Arg1671His	missense variant	-	NC_000012.12:g.124341999C>T	ExAC,TOPMed,gnomAD
rs1472227526	p.Gly1672Ser	missense variant	-	NC_000012.12:g.124341997C>T	TOPMed
rs749723304	p.Gly1672Val	missense variant	-	NC_000012.12:g.124341996C>A	ExAC,gnomAD
rs756170062	p.Asp1675Tyr	missense variant	-	NC_000012.12:g.124341988C>A	ExAC,TOPMed,gnomAD
rs756170062	p.Asp1675Asn	missense variant	-	NC_000012.12:g.124341988C>T	ExAC,TOPMed,gnomAD
rs750708417	p.Thr1676Met	missense variant	-	NC_000012.12:g.124341984G>A	ExAC,TOPMed,gnomAD
rs566159264	p.Ala1677Val	missense variant	-	NC_000012.12:g.124341981G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs763755520	p.Ala1678Val	missense variant	-	NC_000012.12:g.124341978G>A	ExAC,TOPMed,gnomAD
rs1233719126	p.Asn1681Lys	missense variant	-	NC_000012.12:g.124341968G>C	TOPMed
rs958443755	p.Arg1682Gln	missense variant	-	NC_000012.12:g.124341966C>T	TOPMed,gnomAD
rs752623980	p.Arg1682Trp	missense variant	-	NC_000012.12:g.124341967G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ile1686Met	missense variant	-	NC_000012.12:g.124341953G>C	NCI-TCGA
rs375059380	p.Ile1686Thr	missense variant	-	NC_000012.12:g.124341954A>G	ESP,ExAC,TOPMed,gnomAD
rs1279476563	p.Ile1690Val	missense variant	-	NC_000012.12:g.124341943T>C	gnomAD
COSM3457795	p.Thr1691Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124341939G>A	NCI-TCGA Cosmic
COSM3457793	p.Ser1692Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124341936G>A	NCI-TCGA Cosmic
rs1339361677	p.Gln1693Lys	missense variant	-	NC_000012.12:g.124341934G>T	gnomAD
rs760199503	p.His1697Gln	missense variant	-	NC_000012.12:g.124341920G>C	ExAC,gnomAD
rs2229840	p.Ala1699Thr	missense variant	-	NC_000012.12:g.124341916C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2229840	p.Ala1699Pro	missense variant	-	NC_000012.12:g.124341916C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749848130	p.Ala1699Val	missense variant	-	NC_000012.12:g.124341915G>A	ExAC,TOPMed,gnomAD
rs1019925483	p.Thr1701Ala	missense variant	-	NC_000012.12:g.124341910T>C	gnomAD
rs201574379	p.Ala1702Thr	missense variant	-	NC_000012.12:g.124341907C>T	ESP,ExAC,TOPMed,gnomAD
rs201574379	p.Ala1702Pro	missense variant	-	NC_000012.12:g.124341907C>G	ESP,ExAC,TOPMed,gnomAD
rs1257241021	p.Met1703Thr	missense variant	-	NC_000012.12:g.124341903A>G	gnomAD
rs1041009262	p.Met1703Val	missense variant	-	NC_000012.12:g.124341904T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ala1704Pro	missense variant	-	NC_000012.12:g.124341901C>G	NCI-TCGA
rs1336370862	p.Ala1704Val	missense variant	-	NC_000012.12:g.124341900G>A	TOPMed
rs757528674	p.Arg1706Gln	missense variant	-	NC_000012.12:g.124341894C>T	ExAC,TOPMed,gnomAD
rs757528674	p.Arg1706Leu	missense variant	-	NC_000012.12:g.124341894C>A	ExAC,TOPMed,gnomAD
rs1287425537	p.Met1709Val	missense variant	-	NC_000012.12:g.124341886T>C	TOPMed
rs1218927808	p.Met1709Thr	missense variant	-	NC_000012.12:g.124341885A>G	TOPMed,gnomAD
rs1338156717	p.Arg1711Ser	missense variant	-	NC_000012.12:g.124341878C>A	gnomAD
rs1450083393	p.Leu1713Phe	missense variant	-	NC_000012.12:g.124341874G>A	gnomAD
rs1261292284	p.Ser1714Leu	missense variant	-	NC_000012.12:g.124341870G>A	TOPMed
rs1335775651	p.Pro1715Ser	missense variant	-	NC_000012.12:g.124341868G>A	gnomAD
rs368753932	p.Arg1716Cys	missense variant	-	NC_000012.12:g.124341865G>A	ESP,ExAC,TOPMed,gnomAD
rs752750459	p.Arg1716His	missense variant	-	NC_000012.12:g.124341864C>T	ExAC,TOPMed,gnomAD
rs1466370963	p.Glu1717Lys	missense variant	-	NC_000012.12:g.124341862C>T	gnomAD
rs562657424	p.Ser1719Leu	missense variant	-	NC_000012.12:g.124341855G>A	1000Genomes,ExAC,gnomAD
rs1418840151	p.Ser1719Thr	missense variant	-	NC_000012.12:g.124341856A>T	gnomAD
rs200681291	p.Asn1723Ser	missense variant	-	NC_000012.12:g.124341843T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs369349451	p.Ala1725Thr	missense variant	-	NC_000012.12:g.124341838C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776023520	p.Ala1726Val	missense variant	-	NC_000012.12:g.124341834G>A	ExAC,gnomAD
rs1314294064	p.Gly1727Ser	missense variant	-	NC_000012.12:g.124341832C>T	gnomAD
NCI-TCGA novel	p.Arg1729Leu	missense variant	-	NC_000012.12:g.124341825C>A	NCI-TCGA
rs773550297	p.Arg1729Gln	missense variant	-	NC_000012.12:g.124341825C>T	ExAC,TOPMed,gnomAD
rs778879028	p.Gly1730Asp	missense variant	-	NC_000012.12:g.124340751C>T	ExAC,gnomAD
rs754767805	p.Ile1732Val	missense variant	-	NC_000012.12:g.124340746T>C	ExAC,TOPMed,gnomAD
rs1371175273	p.Asp1733Gly	missense variant	-	NC_000012.12:g.124340742T>C	TOPMed
rs12370191	p.Asp1733Asn	missense variant	-	NC_000012.12:g.124340743C>T	TOPMed,gnomAD
rs12370191	p.Asp1733His	missense variant	-	NC_000012.12:g.124340743C>G	TOPMed,gnomAD
rs779854685	p.Val1737Ala	missense variant	-	NC_000012.12:g.124340730A>G	ExAC,gnomAD
rs1280521945	p.Pro1738Ser	missense variant	-	NC_000012.12:g.124340728G>A	gnomAD
rs532473630	p.His1739Arg	missense variant	-	NC_000012.12:g.124340724T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs532473630	p.His1739Pro	missense variant	-	NC_000012.12:g.124340724T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1293059039	p.His1739Gln	missense variant	-	NC_000012.12:g.124340723G>C	TOPMed
rs766988402	p.Pro1741Ser	missense variant	-	NC_000012.12:g.124340719G>A	ExAC,gnomAD
rs565085130	p.Val1744Ala	missense variant	-	NC_000012.12:g.124340709A>G	1000Genomes,ExAC,gnomAD
rs765639135	p.Pro1746Leu	missense variant	-	NC_000012.12:g.124340703G>A	ExAC,TOPMed,gnomAD
rs1343760195	p.Thr1747Ile	missense variant	-	NC_000012.12:g.124340700G>A	gnomAD
rs777261487	p.Pro1748Ala	missense variant	-	NC_000012.12:g.124340698G>C	ExAC,TOPMed,gnomAD
rs1253703160	p.Gly1749Ser	missense variant	-	NC_000012.12:g.124340695C>T	TOPMed
rs1464537963	p.Gly1749Ala	missense variant	-	NC_000012.12:g.124340694C>G	TOPMed
rs1253703160	p.Gly1749Arg	missense variant	-	NC_000012.12:g.124340695C>G	TOPMed
rs761183801	p.Thr1750Ile	missense variant	-	NC_000012.12:g.124340691G>A	ExAC,gnomAD
rs766781540	p.Thr1750Pro	missense variant	-	NC_000012.12:g.124340692T>G	ExAC,gnomAD
rs1264071699	p.Pro1751Ala	missense variant	-	NC_000012.12:g.124340689G>C	TOPMed
rs1185827840	p.Thr1753Ser	missense variant	-	NC_000012.12:g.124340683T>A	TOPMed,gnomAD
rs762145134	p.Ala1754Thr	missense variant	-	NC_000012.12:g.124340680C>T	ExAC,TOPMed,gnomAD
rs1210575778	p.Ala1754Asp	missense variant	-	NC_000012.12:g.124340679G>T	gnomAD
rs762145134	p.Ala1754Ser	missense variant	-	NC_000012.12:g.124340680C>A	ExAC,TOPMed,gnomAD
rs774687938	p.Met1755Ile	missense variant	-	NC_000012.12:g.124340675C>T	ExAC,TOPMed,gnomAD
rs1324459221	p.Met1755Val	missense variant	-	NC_000012.12:g.124340677T>C	gnomAD
rs768643536	p.Arg1757Cys	missense variant	-	NC_000012.12:g.124340671G>A	ExAC,TOPMed,gnomAD
rs779843766	p.Arg1757Leu	missense variant	-	NC_000012.12:g.124340670C>A	ExAC,TOPMed,gnomAD
rs779843766	p.Arg1757His	missense variant	-	NC_000012.12:g.124340670C>T	ExAC,TOPMed,gnomAD
rs997994196	p.Tyr1760Ser	missense variant	-	NC_000012.12:g.124340661T>G	gnomAD
rs900561965	p.Leu1761Pro	missense variant	-	NC_000012.12:g.124340658A>G	gnomAD
rs374215389	p.Pro1762His	missense variant	-	NC_000012.12:g.124340655G>T	ESP,ExAC,TOPMed,gnomAD
rs990374132	p.Pro1762Thr	missense variant	-	NC_000012.12:g.124340656G>T	TOPMed
rs1405881994	p.Thr1763Ile	missense variant	-	NC_000012.12:g.124340652G>A	gnomAD
rs780703898	p.Thr1763Pro	missense variant	-	NC_000012.12:g.124340653T>G	ExAC,TOPMed,gnomAD
rs375289860	p.Ala1764Thr	missense variant	-	NC_000012.12:g.124340650C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs777397769	p.Ala1764Val	missense variant	-	NC_000012.12:g.124340649G>A	ExAC,TOPMed,gnomAD
rs754164700	p.Pro1765Leu	missense variant	-	NC_000012.12:g.124340646G>A	ExAC,TOPMed,gnomAD
rs371456799	p.Ser1769Gly	missense variant	-	NC_000012.12:g.124340635T>C	ESP,ExAC,TOPMed,gnomAD
rs767750462	p.Ser1770Gly	missense variant	-	NC_000012.12:g.124340632T>C	ExAC,TOPMed,gnomAD
rs12422607	p.Arg1771Cys	missense variant	-	NC_000012.12:g.124340629G>A	ExAC,TOPMed,gnomAD
rs774775666	p.Arg1771His	missense variant	-	NC_000012.12:g.124340628C>T	ExAC,gnomAD
RCV000625886	p.Arg1771His	missense variant	-	NC_000012.12:g.124340628C>T	ClinVar
rs1251900074	p.Ser1773Gly	missense variant	-	NC_000012.12:g.124340623T>C	gnomAD
rs763171711	p.Ser1774Cys	missense variant	-	NC_000012.12:g.124340620T>A	ExAC,gnomAD
rs763171711	p.Ser1774Gly	missense variant	-	NC_000012.12:g.124340620T>C	ExAC,gnomAD
rs573137423	p.Pro1776Leu	missense variant	-	NC_000012.12:g.124340613G>A	1000Genomes
rs1315418896	p.Ser1778Phe	missense variant	-	NC_000012.12:g.124340607G>A	gnomAD
rs752929060	p.Gly1781Asp	missense variant	-	NC_000012.12:g.124340440C>T	ExAC,gnomAD
rs758475054	p.Gly1781Arg	missense variant	-	NC_000012.12:g.124340441C>G	ExAC,gnomAD
rs758475054	p.Gly1781Ser	missense variant	-	NC_000012.12:g.124340441C>T	ExAC,gnomAD
rs1408614058	p.Thr1783Ile	missense variant	-	NC_000012.12:g.124340434G>A	TOPMed
rs776413929	p.Thr1786Ala	missense variant	-	NC_000012.12:g.124340426T>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys1787Gln	missense variant	-	NC_000012.12:g.124340423T>G	NCI-TCGA
rs1355575116	p.Thr1790Ala	missense variant	-	NC_000012.12:g.124340414T>C	TOPMed
rs1440840239	p.Thr1790Ile	missense variant	-	NC_000012.12:g.124340413G>A	TOPMed
rs537367417	p.Thr1791Met	missense variant	-	NC_000012.12:g.124340410G>A	1000Genomes,ExAC,gnomAD
rs896130425	p.Thr1791Ala	missense variant	-	NC_000012.12:g.124340411T>C	TOPMed
rs773108865	p.Ser1792Phe	missense variant	-	NC_000012.12:g.124340407G>A	ExAC,gnomAD
rs1056154022	p.Ser1793Leu	missense variant	-	NC_000012.12:g.124340404G>A	TOPMed,gnomAD
COSM3457789	p.Ser1794Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124340401G>A	NCI-TCGA Cosmic
rs1318423205	p.Glu1795Asp	missense variant	-	NC_000012.12:g.124340397C>G	TOPMed
rs377170496	p.Glu1795Lys	missense variant	-	NC_000012.12:g.124340399C>T	ESP,ExAC,TOPMed,gnomAD
rs569116167	p.Arg1796Gln	missense variant	-	NC_000012.12:g.124340395C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs569116167	p.Arg1796Leu	missense variant	-	NC_000012.12:g.124340395C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs768362888	p.Arg1796Gly	missense variant	-	NC_000012.12:g.124340396G>C	ExAC,TOPMed,gnomAD
rs768362888	p.Arg1796Trp	missense variant	-	NC_000012.12:g.124340396G>A	ExAC,TOPMed,gnomAD
rs1018108818	p.Glu1797Lys	missense variant	-	NC_000012.12:g.124340393C>T	TOPMed
rs1480147045	p.Arg1798Ter	stop gained	-	NC_000012.12:g.124340390G>A	gnomAD
rs372979444	p.Arg1798Gln	missense variant	-	NC_000012.12:g.124340389C>T	ESP,ExAC,gnomAD
rs550558916	p.Arg1800Gln	missense variant	-	NC_000012.12:g.124340383C>T	1000Genomes,ExAC,gnomAD
rs757674784	p.Arg1800Trp	missense variant	-	NC_000012.12:g.124340384G>A	ExAC,gnomAD
rs778339008	p.Arg1802Pro	missense variant	-	NC_000012.12:g.124340377C>G	ExAC,TOPMed,gnomAD
rs778339008	p.Arg1802Gln	missense variant	-	NC_000012.12:g.124340377C>T	ExAC,TOPMed,gnomAD
rs201265970	p.Arg1804Trp	missense variant	-	NC_000012.12:g.124340372G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201265970	p.Arg1804Gly	missense variant	-	NC_000012.12:g.124340372G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs199692449	p.Arg1804Gln	missense variant	-	NC_000012.12:g.124340371C>T	ExAC,TOPMed,gnomAD
rs755221894	p.Asp1805Glu	missense variant	-	NC_000012.12:g.124340367G>C	ExAC,gnomAD
rs754008044	p.Arg1806Trp	missense variant	-	NC_000012.12:g.124340366G>A	ExAC,TOPMed,gnomAD
rs766208368	p.Arg1806Gln	missense variant	-	NC_000012.12:g.124340365C>T	ExAC,gnomAD
rs369485952	p.Asp1807Glu	missense variant	-	NC_000012.12:g.124340361A>C	ESP,ExAC,TOPMed
rs375229118	p.Arg1808Trp	missense variant	-	NC_000012.12:g.124340360G>A	ESP,ExAC,TOPMed,gnomAD
rs375229118	p.Arg1808Gly	missense variant	-	NC_000012.12:g.124340360G>C	ESP,ExAC,TOPMed,gnomAD
rs565024394	p.Arg1808Gln	missense variant	-	NC_000012.12:g.124340359C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1809Asp	missense variant	-	NC_000012.12:g.124340355C>A	NCI-TCGA
rs373197094	p.Arg1810Trp	missense variant	-	NC_000012.12:g.124340354G>A	ESP,ExAC,TOPMed,gnomAD
rs775254112	p.Arg1810Gln	missense variant	-	NC_000012.12:g.124340353C>T	ExAC,TOPMed,gnomAD
rs1208533560	p.Glu1811Lys	missense variant	-	NC_000012.12:g.124340351C>T	TOPMed,gnomAD
rs369739293	p.Glu1811Asp	missense variant	-	NC_000012.12:g.124340349T>G	ESP,ExAC,TOPMed,gnomAD
rs375889764	p.Lys1812Met	missense variant	-	NC_000012.12:g.124340347T>A	ESP,ExAC,TOPMed,gnomAD
rs375889764	p.Lys1812Arg	missense variant	-	NC_000012.12:g.124340347T>C	ESP,ExAC,TOPMed,gnomAD
rs772637284	p.Ser1813Tyr	missense variant	-	NC_000012.12:g.124340344G>T	ExAC,gnomAD
rs772637284	p.Ser1813Phe	missense variant	-	NC_000012.12:g.124340344G>A	ExAC,gnomAD
rs1169749737	p.Ile1814Thr	missense variant	-	NC_000012.12:g.124340341A>G	gnomAD
rs202101695	p.Leu1815Val	missense variant	-	NC_000012.12:g.124340339G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs755025520	p.Thr1816Met	missense variant	-	NC_000012.12:g.124340335G>A	ExAC,TOPMed,gnomAD
rs1202589414	p.Thr1818Asn	missense variant	-	NC_000012.12:g.124340329G>T	gnomAD
rs1459727971	p.Thr1819Met	missense variant	-	NC_000012.12:g.124340326G>A	gnomAD
rs61755988	p.Thr1820Met	missense variant	-	NC_000012.12:g.124340323G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs950341670	p.Val1821Met	missense variant	-	NC_000012.12:g.124340321C>T	TOPMed,gnomAD
rs950341670	p.Val1821Leu	missense variant	-	NC_000012.12:g.124340321C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu1822Lys	missense variant	-	NC_000012.12:g.124340318C>T	NCI-TCGA
rs767181136	p.Ala1824Ser	missense variant	-	NC_000012.12:g.124340312C>A	ExAC,TOPMed,gnomAD
rs767181136	p.Ala1824Thr	missense variant	-	NC_000012.12:g.124340312C>T	ExAC,TOPMed,gnomAD
COSM3457787	p.Pro1825Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124340308G>A	NCI-TCGA Cosmic
rs1452133986	p.Ile1826Val	missense variant	-	NC_000012.12:g.124340306T>C	gnomAD
rs376060814	p.Arg1828Ser	missense variant	-	NC_000012.12:g.124340298T>A	ESP,ExAC,TOPMed,gnomAD
rs776124508	p.Thr1831Ala	missense variant	-	NC_000012.12:g.124340202T>C	ExAC,gnomAD
rs1282892486	p.Glu1832Lys	missense variant	-	NC_000012.12:g.124340199C>T	TOPMed
rs1483811042	p.Glu1832Asp	missense variant	-	NC_000012.12:g.124340197C>A	TOPMed
rs767961974	p.Gln1833Arg	missense variant	-	NC_000012.12:g.124340195T>C	ExAC,gnomAD
rs202166914	p.Ser1838Ile	missense variant	-	NC_000012.12:g.124340180C>A	ESP
rs112797765	p.Gly1840Arg	missense variant	-	NC_000012.12:g.124340175C>T	TOPMed
rs1178235854	p.Gly1841Ser	missense variant	-	NC_000012.12:g.124340172C>T	TOPMed,gnomAD
rs769161381	p.Gly1841Val	missense variant	-	NC_000012.12:g.124340171C>A	ExAC,gnomAD
rs769743669	p.Gly1842Arg	missense variant	-	NC_000012.12:g.124340169C>T	ExAC
rs769743669	p.Gly1842Trp	missense variant	-	NC_000012.12:g.124340169C>A	ExAC
rs757135602	p.Gly1843Val	missense variant	-	NC_000012.12:g.124340165C>A	ExAC,gnomAD
rs757135602	p.Gly1843Asp	missense variant	-	NC_000012.12:g.124340165C>T	ExAC,gnomAD
rs781267559	p.Gly1843Ser	missense variant	-	NC_000012.12:g.124340166C>T	ExAC,TOPMed,gnomAD
rs777645515	p.Ser1844Gly	missense variant	-	NC_000012.12:g.124340163T>C	ExAC,TOPMed
rs758441373	p.Ser1845Asn	missense variant	-	NC_000012.12:g.124340159C>T	ExAC,TOPMed,gnomAD
rs764887683	p.Ser1846Ile	missense variant	-	NC_000012.12:g.124340156C>A	ExAC,TOPMed,gnomAD
rs577745902	p.Ser1846Gly	missense variant	-	NC_000012.12:g.124340157T>C	1000Genomes,ExAC
rs764887683	p.Ser1846Asn	missense variant	-	NC_000012.12:g.124340156C>T	ExAC,TOPMed,gnomAD
rs753590635	p.Arg1847Pro	missense variant	-	NC_000012.12:g.124340153C>G	ExAC,TOPMed,gnomAD
rs753590635	p.Arg1847His	missense variant	-	NC_000012.12:g.124340153C>T	ExAC,TOPMed,gnomAD
rs376286347	p.Arg1847Cys	missense variant	-	NC_000012.12:g.124340154G>A	ESP,TOPMed,gnomAD
rs372774502	p.Pro1848Thr	missense variant	-	NC_000012.12:g.124340151G>T	ESP,TOPMed,gnomAD
rs1289753382	p.Ala1849Gly	missense variant	-	NC_000012.12:g.124340147G>C	gnomAD
rs200488675	p.Ala1849Ser	missense variant	-	NC_000012.12:g.124340148C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200488675	p.Ala1849Thr	missense variant	-	NC_000012.12:g.124340148C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1299092	p.Ala1849Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124340147G>A	NCI-TCGA Cosmic
rs764396899	p.Ser1850Cys	missense variant	-	NC_000012.12:g.124340144G>C	ExAC,TOPMed,gnomAD
rs764396899	p.Ser1850Phe	missense variant	-	NC_000012.12:g.124340144G>A	ExAC,TOPMed,gnomAD
rs1386963157	p.His1851Tyr	missense variant	-	NC_000012.12:g.124340142G>A	gnomAD
rs763503321	p.His1851Gln	missense variant	-	NC_000012.12:g.124340140G>C	ExAC,gnomAD
rs1470018340	p.Ser1852Phe	missense variant	-	NC_000012.12:g.124340138G>A	TOPMed,gnomAD
rs906000398	p.His1853Arg	missense variant	-	NC_000012.12:g.124340135T>C	TOPMed,gnomAD
rs376014537	p.Ala1854Thr	missense variant	-	NC_000012.12:g.124340133C>T	ESP,ExAC,TOPMed,gnomAD
rs534729196	p.His1855Gln	missense variant	-	NC_000012.12:g.124340128G>C	1000Genomes,ExAC,gnomAD
rs745924890	p.Ser1858Leu	missense variant	-	NC_000012.12:g.124340120G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1859Leu	missense variant	-	NC_000012.12:g.124340117G>A	NCI-TCGA
rs771063370	p.Pro1859Arg	missense variant	-	NC_000012.12:g.124340117G>C	ExAC,gnomAD
rs896066066	p.Pro1859Ser	missense variant	-	NC_000012.12:g.124340118G>A	TOPMed,gnomAD
rs896066066	p.Pro1859Ala	missense variant	-	NC_000012.12:g.124340118G>C	TOPMed,gnomAD
rs369612212	p.Ile1860Val	missense variant	-	NC_000012.12:g.124340115T>C	ESP,ExAC,TOPMed
COSM3457785	p.Ser1861Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124340111G>A	NCI-TCGA Cosmic
rs777733181	p.Ser1861Tyr	missense variant	-	NC_000012.12:g.124340111G>T	ExAC,gnomAD
rs753298868	p.Arg1863Pro	missense variant	-	NC_000012.12:g.124340105C>G	ExAC,TOPMed,gnomAD
rs753298868	p.Arg1863Leu	missense variant	-	NC_000012.12:g.124340105C>A	ExAC,TOPMed,gnomAD
rs753298868	p.Arg1863Gln	missense variant	-	NC_000012.12:g.124340105C>T	ExAC,TOPMed,gnomAD
rs373538771	p.Arg1863Trp	missense variant	-	NC_000012.12:g.124340106G>A	ESP,ExAC,TOPMed,gnomAD
rs373538771	p.Arg1863Gly	missense variant	-	NC_000012.12:g.124340106G>C	ESP,ExAC,TOPMed,gnomAD
rs755747581	p.Thr1864Ile	missense variant	-	NC_000012.12:g.124340102G>A	ExAC,gnomAD
rs369062283	p.Asp1866Glu	missense variant	-	NC_000012.12:g.124340095A>T	ESP,ExAC,TOPMed,gnomAD
rs764486729	p.Ala1867Val	missense variant	-	NC_000012.12:g.124340093G>A	ExAC,gnomAD
rs1363412308	p.Ala1867Thr	missense variant	-	NC_000012.12:g.124340094C>T	TOPMed,gnomAD
rs753261260	p.Gln1869His	missense variant	-	NC_000012.12:g.124340086C>A	ExAC,TOPMed,gnomAD
rs1166204295	p.Pro1872Arg	missense variant	-	NC_000012.12:g.124340078G>C	TOPMed
rs202106373	p.His1876Tyr	missense variant	-	NC_000012.12:g.124340067G>A	ESP,ExAC,TOPMed,gnomAD
rs760022821	p.His1876Arg	missense variant	-	NC_000012.12:g.124340066T>C	ExAC,gnomAD
rs371694854	p.Met1880Ile	missense variant	-	NC_000012.12:g.124340053C>T	ESP,ExAC,TOPMed,gnomAD
COSM6071602	p.Gly1882Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124340049C>A	NCI-TCGA Cosmic
rs1468533121	p.Gly1882Ser	missense variant	-	NC_000012.12:g.124340049C>T	gnomAD
rs773536939	p.Ile1883Phe	missense variant	-	NC_000012.12:g.124340046T>A	ExAC
rs367866393	p.Thr1885Asn	missense variant	-	NC_000012.12:g.124340039G>T	ESP,ExAC,TOPMed,gnomAD
rs376844948	p.Ala1886Thr	missense variant	-	NC_000012.12:g.124340037C>T	ESP,ExAC,TOPMed,gnomAD
rs376844948	p.Ala1886Ser	missense variant	-	NC_000012.12:g.124340037C>A	ESP,ExAC,TOPMed,gnomAD
rs768479665	p.Val1887Met	missense variant	-	NC_000012.12:g.124340034C>T	ExAC,gnomAD
rs372374587	p.Thr1891Met	missense variant	-	NC_000012.12:g.124340021G>A	ESP,ExAC,TOPMed,gnomAD
rs750147352	p.Pro1892His	missense variant	-	NC_000012.12:g.124340018G>T	ExAC,gnomAD
rs200853446	p.Thr1893Met	missense variant	-	NC_000012.12:g.124340015G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774603214	p.Arg1896Ser	missense variant	-	NC_000012.12:g.124337180C>G	ExAC,TOPMed,gnomAD
rs774603214	p.Arg1896Ser	missense variant	-	NC_000012.12:g.124337180C>A	ExAC,TOPMed,gnomAD
rs1337703098	p.Ser1897Phe	missense variant	-	NC_000012.12:g.124337178G>A	gnomAD
rs373637496	p.Thr1898Ser	missense variant	-	NC_000012.12:g.124337176T>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1901Phe	missense variant	-	NC_000012.12:g.124337166G>A	NCI-TCGA
rs775090140	p.Ser1902Thr	missense variant	-	NC_000012.12:g.124337164A>T	ExAC
rs769728016	p.Ser1902Leu	missense variant	-	NC_000012.12:g.124337163G>A	ExAC,gnomAD
rs1187087560	p.Pro1903Thr	missense variant	-	NC_000012.12:g.124337161G>T	gnomAD
rs375846724	p.Val1904Leu	missense variant	-	NC_000012.12:g.124337158C>G	ESP,ExAC,TOPMed,gnomAD
rs375846724	p.Val1904Ile	missense variant	-	NC_000012.12:g.124337158C>T	ESP,ExAC,TOPMed,gnomAD
rs746678779	p.Arg1905Gly	missense variant	-	NC_000012.12:g.124337155G>C	ExAC,TOPMed,gnomAD
rs777477283	p.Arg1905His	missense variant	-	NC_000012.12:g.124337154C>T	ExAC,TOPMed,gnomAD
rs777477283	p.Arg1905Leu	missense variant	-	NC_000012.12:g.124337154C>A	ExAC,TOPMed,gnomAD
rs746678779	p.Arg1905Cys	missense variant	-	NC_000012.12:g.124337155G>A	ExAC,TOPMed,gnomAD
rs1196263716	p.Pro1906Gln	missense variant	-	NC_000012.12:g.124337151G>T	gnomAD
rs1274531774	p.Pro1906Thr	missense variant	-	NC_000012.12:g.124337152G>T	gnomAD
rs1196263716	p.Pro1906Leu	missense variant	-	NC_000012.12:g.124337151G>A	gnomAD
rs1247879123	p.Ala1907Asp	missense variant	-	NC_000012.12:g.124337148G>T	gnomAD
rs1247879123	p.Ala1907Val	missense variant	-	NC_000012.12:g.124337148G>A	gnomAD
rs529940616	p.Ala1907Pro	missense variant	-	NC_000012.12:g.124337149C>G	1000Genomes,ExAC,gnomAD
rs529940616	p.Ala1907Ser	missense variant	-	NC_000012.12:g.124337149C>A	1000Genomes,ExAC,gnomAD
rs1383337657	p.Ala1908Val	missense variant	-	NC_000012.12:g.124337145G>A	TOPMed,gnomAD
rs1284966280	p.Thr1909Ile	missense variant	-	NC_000012.12:g.124337142G>A	gnomAD
COSM1561776	p.Pro1911Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124337136G>A	NCI-TCGA Cosmic
rs780495645	p.Pro1912Thr	missense variant	-	NC_000012.12:g.124337134G>T	ExAC,gnomAD
rs780495645	p.Pro1912Ser	missense variant	-	NC_000012.12:g.124337134G>A	ExAC,gnomAD
rs1338723249	p.Thr1914Ser	missense variant	-	NC_000012.12:g.124337128T>A	TOPMed,gnomAD
rs1338723249	p.Thr1914Ala	missense variant	-	NC_000012.12:g.124337128T>C	TOPMed,gnomAD
rs1392424266	p.Leu1918Val	missense variant	-	NC_000012.12:g.124337116G>C	gnomAD
rs750908364	p.Gly1919Ser	missense variant	-	NC_000012.12:g.124337113C>T	ExAC,TOPMed,gnomAD
rs192319351	p.Gly1920Ser	missense variant	-	NC_000012.12:g.124337110C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1386301961	p.Gly1920Ala	missense variant	-	NC_000012.12:g.124337109C>G	gnomAD
rs1204041058	p.Thr1921Ile	missense variant	-	NC_000012.12:g.124337106G>A	TOPMed
rs764393795	p.Thr1928Pro	missense variant	-	NC_000012.12:g.124337086T>G	ExAC,TOPMed,gnomAD
rs763020025	p.Leu1929Phe	missense variant	-	NC_000012.12:g.124337083G>A	ExAC,gnomAD
rs1287951065	p.Glu1931Lys	missense variant	-	NC_000012.12:g.124337077C>T	TOPMed,gnomAD
rs1428338459	p.Pro1932Arg	missense variant	-	NC_000012.12:g.124337073G>C	gnomAD
rs775386457	p.Pro1932Thr	missense variant	-	NC_000012.12:g.124337074G>T	ExAC,gnomAD
rs775386457	p.Pro1932Ser	missense variant	-	NC_000012.12:g.124337074G>A	ExAC,gnomAD
rs373683334	p.Val1933Ile	missense variant	-	NC_000012.12:g.124337071C>T	ESP,ExAC,TOPMed,gnomAD
rs373683334	p.Val1933Phe	missense variant	-	NC_000012.12:g.124337071C>A	ESP,ExAC,TOPMed,gnomAD
rs1227892025	p.Leu1934Phe	missense variant	-	NC_000012.12:g.124337066C>A	gnomAD
rs903055254	p.Lys1937Glu	missense variant	-	NC_000012.12:g.124337059T>C	gnomAD
rs1349994825	p.Ala1939Ser	missense variant	-	NC_000012.12:g.124337053C>A	gnomAD
rs1156955456	p.Ala1939Val	missense variant	-	NC_000012.12:g.124337052G>A	TOPMed
COSM6044608	p.Arg1941GlyPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.124337047G>-	NCI-TCGA Cosmic
rs776517719	p.Arg1941Trp	missense variant	-	NC_000012.12:g.124337047G>A	ExAC,TOPMed,gnomAD
rs770492724	p.Arg1941Gln	missense variant	-	NC_000012.12:g.124337046C>T	ExAC,TOPMed
rs112531520	p.Val1942Ala	missense variant	-	NC_000012.12:g.124337043A>G	ExAC,TOPMed,gnomAD
rs1393264301	p.Val1942Phe	missense variant	-	NC_000012.12:g.124337044C>A	gnomAD
rs112531520	p.Val1942Gly	missense variant	-	NC_000012.12:g.124337043A>C	ExAC,TOPMed,gnomAD
rs771756757	p.Ala1943Thr	missense variant	-	NC_000012.12:g.124337041C>T	ExAC,TOPMed,gnomAD
rs771756757	p.Ala1943Ser	missense variant	-	NC_000012.12:g.124337041C>A	ExAC,TOPMed,gnomAD
rs546270358	p.Arg1944Gln	missense variant	-	NC_000012.12:g.124337037C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs564480665	p.Arg1944Trp	missense variant	-	NC_000012.12:g.124337038G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs546270358	p.Arg1944Pro	missense variant	-	NC_000012.12:g.124337037C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs369817436	p.Arg1947Trp	missense variant	-	NC_000012.12:g.124337029G>A	ESP,ExAC,TOPMed,gnomAD
rs932680959	p.Arg1947Gln	missense variant	-	NC_000012.12:g.124337028C>T	TOPMed,gnomAD
rs1490501539	p.Pro1948Thr	missense variant	-	NC_000012.12:g.124337026G>T	gnomAD
rs781762231	p.Arg1949Gly	missense variant	-	NC_000012.12:g.124337023G>C	ExAC,TOPMed,gnomAD
rs781762231	p.Arg1949Ter	stop gained	-	NC_000012.12:g.124337023G>A	ExAC,TOPMed,gnomAD
rs757650627	p.Arg1949Gln	missense variant	-	NC_000012.12:g.124337022C>T	ExAC,gnomAD
rs1040154380	p.Ala1950Thr	missense variant	-	NC_000012.12:g.124337020C>T	TOPMed
rs377731266	p.Gly1953Ser	missense variant	-	NC_000012.12:g.124337011C>T	ESP,ExAC,gnomAD
rs1229296745	p.Gly1953Ala	missense variant	-	NC_000012.12:g.124337010C>G	gnomAD
rs752895291	p.His1954Tyr	missense variant	-	NC_000012.12:g.124337008G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu1957Arg	missense variant	-	NC_000012.12:g.124336998A>C	NCI-TCGA
rs1368931541	p.Leu1957Pro	missense variant	-	NC_000012.12:g.124336998A>G	gnomAD
rs753831136	p.Ala1958Thr	missense variant	-	NC_000012.12:g.124336996C>T	ExAC,TOPMed,gnomAD
rs753831136	p.Ala1958Ser	missense variant	-	NC_000012.12:g.124336996C>A	ExAC,TOPMed,gnomAD
rs766352960	p.Ala1958Val	missense variant	-	NC_000012.12:g.124336995G>A	ExAC,gnomAD
rs760458961	p.Lys1959Gln	missense variant	-	NC_000012.12:g.124336993T>G	ExAC,gnomAD
rs1414341772	p.Pro1960His	missense variant	-	NC_000012.12:g.124336989G>T	TOPMed
rs924122482	p.Pro1961Leu	missense variant	-	NC_000012.12:g.124336986G>A	TOPMed,gnomAD
rs368978062	p.Arg1963His	missense variant	-	NC_000012.12:g.124336980C>T	ESP,ExAC,TOPMed,gnomAD
rs771431225	p.Arg1963Cys	missense variant	-	NC_000012.12:g.124336981G>A	ExAC,TOPMed,gnomAD
rs771431225	p.Arg1963Gly	missense variant	-	NC_000012.12:g.124336981G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1964LeuPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.124336962_124336978GCGGGCTCCAGCCCGGA>-	NCI-TCGA
rs774145486	p.Ser1964Cys	missense variant	-	NC_000012.12:g.124336977G>C	ExAC,TOPMed,gnomAD
rs746252118	p.Gly1965Arg	missense variant	-	NC_000012.12:g.124336975C>T	ExAC,TOPMed,gnomAD
rs747426729	p.Ala1969Thr	missense variant	-	NC_000012.12:g.124336963C>T	ExAC,TOPMed,gnomAD
rs1210705252	p.Ser1970Ala	missense variant	-	NC_000012.12:g.124336960A>C	TOPMed,gnomAD
rs1484961232	p.Ser1971Tyr	missense variant	-	NC_000012.12:g.124336956G>T	TOPMed,gnomAD
rs1212676497	p.Ser1971Pro	missense variant	-	NC_000012.12:g.124336957A>G	TOPMed
rs777958866	p.Pro1972Ala	missense variant	-	NC_000012.12:g.124336954G>C	ExAC,TOPMed,gnomAD
rs758379332	p.Ser1973Asn	missense variant	-	NC_000012.12:g.124336950C>T	ExAC,gnomAD
rs752981234	p.Lys1974Asn	missense variant	-	NC_000012.12:g.124336946C>A	ExAC,TOPMed,gnomAD
rs779092173	p.Gly1975Val	missense variant	-	NC_000012.12:g.124336944C>A	ExAC,gnomAD
rs112233733	p.Ser1976Trp	missense variant	-	NC_000012.12:g.124336941G>C	ESP,ExAC,TOPMed,gnomAD
rs112233733	p.Ser1976Leu	missense variant	-	NC_000012.12:g.124336941G>A	ESP,ExAC,TOPMed,gnomAD
rs2230943	p.Glu1977Asp	missense variant	-	NC_000012.12:g.124336937C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2230943	p.Glu1977Asp	missense variant	-	NC_000012.12:g.124336937C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1466080284	p.Arg1979Gln	missense variant	-	NC_000012.12:g.124336932C>T	TOPMed,gnomAD
rs375449858	p.Arg1979Trp	missense variant	-	NC_000012.12:g.124336933G>A	ESP,ExAC,TOPMed,gnomAD
rs375449858	p.Arg1979Gly	missense variant	-	NC_000012.12:g.124336933G>C	ESP,ExAC,TOPMed,gnomAD
rs1411621804	p.Pro1980Arg	missense variant	-	NC_000012.12:g.124336929G>C	gnomAD
rs763847492	p.Pro1980Ser	missense variant	-	NC_000012.12:g.124336930G>A	ExAC,TOPMed,gnomAD
rs762655605	p.Val1982Gly	missense variant	-	NC_000012.12:g.124336923A>C	ExAC,gnomAD
rs777158980	p.Pro1983His	missense variant	-	NC_000012.12:g.124336920G>T	ExAC,gnomAD
rs777158980	p.Pro1983Leu	missense variant	-	NC_000012.12:g.124336920G>A	ExAC,gnomAD
rs1447493276	p.Pro1984Ser	missense variant	-	NC_000012.12:g.124336918G>A	gnomAD
rs771179649	p.Val1985Phe	missense variant	-	NC_000012.12:g.124336915C>A	ExAC,TOPMed,gnomAD
rs1483604015	p.His1988Tyr	missense variant	-	NC_000012.12:g.124336906G>A	gnomAD
rs372512195	p.Ala1989Thr	missense variant	-	NC_000012.12:g.124336903C>T	ESP,ExAC,TOPMed,gnomAD
rs372512195	p.Ala1989Pro	missense variant	-	NC_000012.12:g.124336903C>G	ESP,ExAC,TOPMed,gnomAD
rs748239900	p.Ile1991Val	missense variant	-	NC_000012.12:g.124336897T>C	ExAC,gnomAD
rs368518568	p.Ala1992Thr	missense variant	-	NC_000012.12:g.124336894C>T	ESP,ExAC,TOPMed
NCI-TCGA novel	p.Arg1993Pro	missense variant	-	NC_000012.12:g.124336890C>G	NCI-TCGA
rs200307018	p.Arg1993Cys	missense variant	-	NC_000012.12:g.124336891G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371285197	p.Arg1993His	missense variant	-	NC_000012.12:g.124336890C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1396273035	p.Pro1995Ala	missense variant	-	NC_000012.12:g.124336885G>C	gnomAD
rs367841669	p.Pro1995His	missense variant	-	NC_000012.12:g.124336884G>T	ESP,ExAC,TOPMed,gnomAD
rs367841669	p.Pro1995Leu	missense variant	-	NC_000012.12:g.124336884G>A	ESP,ExAC,TOPMed,gnomAD
rs750434941	p.Ala1996Val	missense variant	-	NC_000012.12:g.124336881G>A	ExAC,TOPMed,gnomAD
rs757198140	p.Asn1998Ser	missense variant	-	NC_000012.12:g.124336875T>C	ExAC
rs751150139	p.Asn1998Lys	missense variant	-	NC_000012.12:g.124336874G>T	ExAC,TOPMed,gnomAD
rs763648762	p.Leu1999Phe	missense variant	-	NC_000012.12:g.124336873G>A	ExAC,gnomAD
rs199623076	p.Ala2000Val	missense variant	-	NC_000012.12:g.124336869G>A	ExAC,TOPMed,gnomAD
rs199623076	p.Ala2000Glu	missense variant	-	NC_000012.12:g.124336869G>T	ExAC,TOPMed,gnomAD
rs2227277	p.Ala2000Thr	missense variant	-	NC_000012.12:g.124336870C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro2001Arg	missense variant	-	NC_000012.12:g.124336866G>C	NCI-TCGA
rs2230944	p.Pro2001Ser	missense variant	-	NC_000012.12:g.124336867G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs533590387	p.His2002Pro	missense variant	-	NC_000012.12:g.124336863T>G	1000Genomes
rs115287138	p.Ala2004Gly	missense variant	-	NC_000012.12:g.124336857G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs115287138	p.Ala2004Val	missense variant	-	NC_000012.12:g.124336857G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772572204	p.Ala2004Thr	missense variant	-	NC_000012.12:g.124336858C>T	ExAC,TOPMed,gnomAD
rs1205137735	p.Ser2005Asn	missense variant	-	NC_000012.12:g.124336854C>T	gnomAD
rs1205137735	p.Ser2005Ile	missense variant	-	NC_000012.12:g.124336854C>A	gnomAD
rs768697193	p.Pro2006Leu	missense variant	-	NC_000012.12:g.124336851G>A	ExAC,TOPMed,gnomAD
rs780133294	p.Asp2007Glu	missense variant	-	NC_000012.12:g.124336847G>T	ExAC,TOPMed,gnomAD
rs780133294	p.Asp2007Glu	missense variant	-	NC_000012.12:g.124336847G>C	ExAC,TOPMed,gnomAD
rs756304172	p.Pro2008Leu	missense variant	-	NC_000012.12:g.124336845G>A	ExAC,TOPMed,gnomAD
rs781004006	p.Pro2009Leu	missense variant	-	NC_000012.12:g.124336842G>A	ExAC,TOPMed,gnomAD
rs751521938	p.Ala2010Pro	missense variant	-	NC_000012.12:g.124336840C>G	ExAC,TOPMed,gnomAD
rs757979246	p.Ala2010Val	missense variant	-	NC_000012.12:g.124336839G>A	ExAC,TOPMed,gnomAD
rs757979246	p.Ala2010Gly	missense variant	-	NC_000012.12:g.124336839G>C	ExAC,TOPMed,gnomAD
rs764808784	p.Pro2011Ser	missense variant	-	NC_000012.12:g.124336837G>A	ExAC,TOPMed,gnomAD
rs1458550598	p.Pro2011Leu	missense variant	-	NC_000012.12:g.124336836G>A	gnomAD
rs1162999237	p.Pro2012Arg	missense variant	-	NC_000012.12:g.124336833G>C	gnomAD
rs1162999237	p.Pro2012His	missense variant	-	NC_000012.12:g.124336833G>T	gnomAD
rs767815601	p.Ser2014Thr	missense variant	-	NC_000012.12:g.124336828A>T	ExAC,TOPMed,gnomAD
rs762352790	p.Ser2014Leu	missense variant	-	NC_000012.12:g.124336827G>A	ExAC,TOPMed,gnomAD
rs768787527	p.Ala2015Pro	missense variant	-	NC_000012.12:g.124336825C>G	ExAC,gnomAD
rs1250257132	p.Ser2016Leu	missense variant	-	NC_000012.12:g.124336821G>A	gnomAD
rs377720769	p.Pro2018Leu	missense variant	-	NC_000012.12:g.124336815G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1186402893	p.His2019Leu	missense variant	-	NC_000012.12:g.124336812T>A	TOPMed
rs374660196	p.Arg2020Pro	missense variant	-	NC_000012.12:g.124336809C>G	ESP,ExAC,TOPMed,gnomAD
rs746058008	p.Arg2020Trp	missense variant	-	NC_000012.12:g.124336810G>A	ExAC,TOPMed,gnomAD
rs374660196	p.Arg2020Gln	missense variant	-	NC_000012.12:g.124336809C>T	ESP,ExAC,TOPMed,gnomAD
rs1347333816	p.Glu2021Lys	missense variant	-	NC_000012.12:g.124336807C>T	gnomAD
rs747010756	p.Lys2022Arg	missense variant	-	NC_000012.12:g.124336803T>C	ExAC,gnomAD
rs368744652	p.Thr2023Ile	missense variant	-	NC_000012.12:g.124336800G>A	ESP,ExAC,TOPMed,gnomAD
rs368744652	p.Thr2023Ser	missense variant	-	NC_000012.12:g.124336800G>C	ESP,ExAC,TOPMed,gnomAD
rs1388370732	p.Gln2024Pro	missense variant	-	NC_000012.12:g.124336797T>G	gnomAD
rs758351174	p.Ser2025Arg	missense variant	-	NC_000012.12:g.124336793A>C	ExAC,gnomAD
rs778445335	p.Pro2027His	missense variant	-	NC_000012.12:g.124336788G>T	ExAC,gnomAD
rs778445335	p.Pro2027Leu	missense variant	-	NC_000012.12:g.124336788G>A	ExAC,gnomAD
rs753503556	p.Gln2031Glu	missense variant	-	NC_000012.12:g.124336777G>C	ExAC
COSM4849956	p.Glu2032Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124336774C>G	NCI-TCGA Cosmic
rs550851892	p.Leu2033Gln	missense variant	-	NC_000012.12:g.124336770A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs550851892	p.Leu2033Pro	missense variant	-	NC_000012.12:g.124336770A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs752116393	p.Glu2034Lys	missense variant	-	NC_000012.12:g.124336768C>T	ExAC,gnomAD
rs1265730763	p.Leu2035Phe	missense variant	-	NC_000012.12:g.124336765G>A	gnomAD
rs775458405	p.Arg2036His	missense variant	-	NC_000012.12:g.124336761C>T	ExAC,TOPMed,gnomAD
rs763480105	p.Arg2036Cys	missense variant	-	NC_000012.12:g.124336762G>A	ExAC,gnomAD
rs927988053	p.Leu2038Pro	missense variant	-	NC_000012.12:g.124336755A>G	TOPMed
rs753999479	p.Gly2042Arg	missense variant	-	NC_000012.12:g.124335624C>G	ExAC,TOPMed,gnomAD
rs1253849621	p.Tyr2045Cys	missense variant	-	NC_000012.12:g.124335614T>C	gnomAD
rs766514734	p.Ser2046Asn	missense variant	-	NC_000012.12:g.124335611C>T	ExAC,gnomAD
rs372303606	p.Glu2048Lys	missense variant	-	NC_000012.12:g.124335606C>T	ESP,ExAC,TOPMed,gnomAD
rs761653899	p.Gly2049Glu	missense variant	-	NC_000012.12:g.124335602C>T	ExAC,gnomAD
rs1285065563	p.Val2050Ala	missense variant	-	NC_000012.12:g.124335599A>G	gnomAD
rs1244151740	p.Pro2052Leu	missense variant	-	NC_000012.12:g.124335593G>A	gnomAD
rs768673077	p.Val2053Ile	missense variant	-	NC_000012.12:g.124335591C>T	ExAC,TOPMed,gnomAD
rs1411008653	p.Pro2055Leu	missense variant	-	NC_000012.12:g.124335584G>A	gnomAD
NCI-TCGA novel	p.Ser2060Ile	missense variant	-	NC_000012.12:g.124335569C>A	NCI-TCGA
NCI-TCGA novel	p.Leu2061Pro	missense variant	-	NC_000012.12:g.124335566A>G	NCI-TCGA
NCI-TCGA novel	p.Thr2062Ala	missense variant	-	NC_000012.12:g.124335564T>C	NCI-TCGA
rs1407497417	p.His2063Asn	missense variant	-	NC_000012.12:g.124335561G>T	TOPMed,gnomAD
rs775031589	p.Asp2064Asn	missense variant	-	NC_000012.12:g.124335558C>T	ExAC,TOPMed,gnomAD
rs769263515	p.Gly2066Arg	missense variant	-	NC_000012.12:g.124335552C>T	ExAC,TOPMed,gnomAD
rs769263515	p.Gly2066Arg	missense variant	-	NC_000012.12:g.124335552C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys2069Asn	missense variant	-	NC_000012.12:g.124335541C>A	NCI-TCGA
rs1182761442	p.Lys2069Asn	missense variant	-	NC_000012.12:g.124335541C>G	gnomAD
rs1472224512	p.His2070Tyr	missense variant	-	NC_000012.12:g.124335540G>A	gnomAD
rs1325406383	p.Leu2071Val	missense variant	-	NC_000012.12:g.124335537G>C	gnomAD
rs1255914812	p.Glu2073Ala	missense variant	-	NC_000012.12:g.124335530T>G	TOPMed
COSM1359884	p.Glu2073Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124335529C>A	NCI-TCGA Cosmic
rs756804868	p.Leu2074His	missense variant	-	NC_000012.12:g.124335527A>T	ExAC,gnomAD
rs534563391	p.Asp2075Asn	missense variant	-	NC_000012.12:g.124335525C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1332718101	p.Ser2077Asn	missense variant	-	NC_000012.12:g.124335518C>T	gnomAD
rs755561202	p.His2078Tyr	missense variant	-	NC_000012.12:g.124335516G>A	ExAC,gnomAD
rs1258251678	p.Leu2079Val	missense variant	-	NC_000012.12:g.124335513G>C	TOPMed
rs202085856	p.Gly2081Glu	missense variant	-	NC_000012.12:g.124335506C>T	TOPMed
rs1164166413	p.Gly2081Trp	missense variant	-	NC_000012.12:g.124335507C>A	TOPMed,gnomAD
rs371813927	p.Arg2084Trp	missense variant	-	NC_000012.12:g.124335498G>A	ESP,ExAC,TOPMed,gnomAD
rs201766557	p.Arg2084Gln	missense variant	-	NC_000012.12:g.124335497C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1322408087	p.Pro2085Leu	missense variant	-	NC_000012.12:g.124335494G>A	gnomAD
COSM936701	p.Gly2089Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124335483C>A	NCI-TCGA Cosmic
rs201214871	p.Gly2089Asp	missense variant	-	NC_000012.12:g.124335280C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1359171045	p.Pro2090Leu	missense variant	-	NC_000012.12:g.124335277G>A	gnomAD
rs1448197131	p.Val2091Glu	missense variant	-	NC_000012.12:g.124335274A>T	TOPMed,gnomAD
rs1227868876	p.Val2091Met	missense variant	-	NC_000012.12:g.124335275C>T	TOPMed
NCI-TCGA novel	p.Gly2094Asp	missense variant	-	NC_000012.12:g.124335265C>T	NCI-TCGA
rs763944351	p.Gly2094Ser	missense variant	-	NC_000012.12:g.124335266C>T	ExAC,gnomAD
rs762727758	p.Gly2095Arg	missense variant	-	NC_000012.12:g.124335263C>T	ExAC,TOPMed,gnomAD
rs762727758	p.Gly2095Arg	missense variant	-	NC_000012.12:g.124335263C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu2096Lys	missense variant	-	NC_000012.12:g.124335260C>T	NCI-TCGA
rs147020677	p.Ala2098Thr	missense variant	-	NC_000012.12:g.124335254C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776224523	p.Ala2098Val	missense variant	-	NC_000012.12:g.124335253G>A	ExAC,gnomAD
rs770321544	p.His2099Arg	missense variant	-	NC_000012.12:g.124335250T>C	ExAC,gnomAD
NCI-TCGA novel	p.Pro2101ThrArg	insertion	-	NC_000012.12:g.124335242_124335243insCCTGGT	NCI-TCGA
rs772732000	p.His2102Gln	missense variant	-	NC_000012.12:g.124335240G>T	ExAC,gnomAD
rs1237380938	p.His2102Tyr	missense variant	-	NC_000012.12:g.124335242G>A	TOPMed,gnomAD
rs1237380938	p.His2102Asn	missense variant	-	NC_000012.12:g.124335242G>T	TOPMed,gnomAD
rs1209417010	p.His2102Arg	missense variant	-	NC_000012.12:g.124335241T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Leu2103Met	missense variant	-	NC_000012.12:g.124335239G>T	NCI-TCGA
rs749683870	p.Arg2104Trp	missense variant	-	NC_000012.12:g.124335236G>A	ExAC,TOPMed,gnomAD
rs1305386980	p.Pro2105Ser	missense variant	-	NC_000012.12:g.124335233G>A	gnomAD
rs780497989	p.Pro2105Leu	missense variant	-	NC_000012.12:g.124335232G>A	ExAC,TOPMed,gnomAD
rs1291081651	p.Pro2107Leu	missense variant	-	NC_000012.12:g.124335226G>A	gnomAD
NCI-TCGA novel	p.Gln2110Ter	stop gained	-	NC_000012.12:g.124335218G>A	NCI-TCGA
rs746341430	p.Pro2111Ala	missense variant	-	NC_000012.12:g.124335215G>C	ExAC,TOPMed,gnomAD
rs1165223891	p.Pro2111Arg	missense variant	-	NC_000012.12:g.124335214G>C	TOPMed
rs746341430	p.Pro2111Ser	missense variant	-	NC_000012.12:g.124335215G>A	ExAC,TOPMed,gnomAD
rs373474834	p.Ser2112Leu	missense variant	-	NC_000012.12:g.124335211G>A	ESP,ExAC,TOPMed,gnomAD
rs781375072	p.Ser2112Pro	missense variant	-	NC_000012.12:g.124335212A>G	ExAC,gnomAD
rs777989634	p.Pro2115Thr	missense variant	-	NC_000012.12:g.124335203G>T	ExAC,gnomAD
rs199899276	p.Pro2115Leu	missense variant	-	NC_000012.12:g.124335202G>A	ExAC,TOPMed,gnomAD
rs199899276	p.Pro2115Gln	missense variant	-	NC_000012.12:g.124335202G>T	ExAC,TOPMed,gnomAD
rs764960724	p.Leu2116Pro	missense variant	-	NC_000012.12:g.124335199A>G	ExAC,gnomAD
rs893086396	p.Leu2116Met	missense variant	-	NC_000012.12:g.124335200G>T	TOPMed,gnomAD
rs753682867	p.Gln2118His	missense variant	-	NC_000012.12:g.124335192C>A	ExAC,gnomAD
rs753682867	p.Gln2118His	missense variant	-	NC_000012.12:g.124335192C>G	ExAC,gnomAD
rs373202860	p.Ala2120Ser	missense variant	-	NC_000012.12:g.124335188C>A	ESP,ExAC,TOPMed,gnomAD
rs373202860	p.Ala2120Thr	missense variant	-	NC_000012.12:g.124335188C>T	ESP,ExAC,TOPMed,gnomAD
rs1025293350	p.Ala2120Val	missense variant	-	NC_000012.12:g.124335187G>A	TOPMed,gnomAD
rs761515899	p.Val2123Ile	missense variant	-	NC_000012.12:g.124335179C>T	ExAC,gnomAD
rs776047622	p.Lys2124Asn	missense variant	-	NC_000012.12:g.124335174T>A	ExAC
rs1221881422	p.Lys2124Glu	missense variant	-	NC_000012.12:g.124335176T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gln2127Arg	missense variant	-	NC_000012.12:g.124335166T>C	NCI-TCGA
rs1320554285	p.Gln2127Glu	missense variant	-	NC_000012.12:g.124335167G>C	gnomAD
rs746454948	p.Arg2128Gln	missense variant	-	NC_000012.12:g.124335163C>T	ExAC,TOPMed,gnomAD
rs369703653	p.Arg2128Trp	missense variant	-	NC_000012.12:g.124335164G>A	ESP,ExAC,gnomAD
rs776991075	p.Val2129Met	missense variant	-	NC_000012.12:g.124335161C>T	ExAC,gnomAD
rs771415308	p.Thr2131Ala	missense variant	-	NC_000012.12:g.124335155T>C	ExAC,TOPMed,gnomAD
rs1295454762	p.Leu2132Val	missense variant	-	NC_000012.12:g.124335152G>C	gnomAD
rs1232007867	p.His2135Leu	missense variant	-	NC_000012.12:g.124335142T>A	TOPMed
rs779090153	p.Glu2138Asp	missense variant	-	NC_000012.12:g.124334615C>G	ExAC,gnomAD
rs1345530222	p.Thr2145Ser	missense variant	-	NC_000012.12:g.124334595G>C	gnomAD
rs1301468218	p.Arg2146Gly	missense variant	-	NC_000012.12:g.124334593G>C	TOPMed,gnomAD
rs1230932243	p.Arg2146Gln	missense variant	-	NC_000012.12:g.124334592C>T	TOPMed,gnomAD
rs1301468218	p.Arg2146Trp	missense variant	-	NC_000012.12:g.124334593G>A	TOPMed,gnomAD
rs1365940590	p.His2147Gln	missense variant	-	NC_000012.12:g.124334588G>T	TOPMed,gnomAD
rs1425174182	p.His2147Tyr	missense variant	-	NC_000012.12:g.124334590G>A	TOPMed
rs998919085	p.His2148Asn	missense variant	-	NC_000012.12:g.124334587G>T	gnomAD
rs998919085	p.His2148Tyr	missense variant	-	NC_000012.12:g.124334587G>A	gnomAD
rs1167862711	p.Pro2149Ser	missense variant	-	NC_000012.12:g.124334584G>A	TOPMed
rs1380657148	p.Ser2153Gly	missense variant	-	NC_000012.12:g.124334572T>C	gnomAD
rs1374504471	p.Ser2153Asn	missense variant	-	NC_000012.12:g.124334571C>T	TOPMed
rs368425851	p.Ala2154Thr	missense variant	-	NC_000012.12:g.124334569C>T	ESP,ExAC,TOPMed,gnomAD
rs756814630	p.Ala2158Val	missense variant	-	NC_000012.12:g.124334556G>A	ExAC,gnomAD
rs780918834	p.Ala2158Thr	missense variant	-	NC_000012.12:g.124334557C>T	ExAC,TOPMed,gnomAD
rs1444141326	p.Pro2159Thr	missense variant	-	NC_000012.12:g.124334554G>T	gnomAD
rs1371937906	p.Pro2159Arg	missense variant	-	NC_000012.12:g.124334553G>C	gnomAD
rs1195367384	p.Tyr2161Phe	missense variant	-	NC_000012.12:g.124334547T>A	gnomAD
rs762630438	p.Ala2166Asp	missense variant	-	NC_000012.12:g.124334532G>T	ExAC,gnomAD
rs1210107020	p.Ser2167Cys	missense variant	-	NC_000012.12:g.124334530T>A	gnomAD
NCI-TCGA novel	p.Cys2168Ter	stop gained	-	NC_000012.12:g.124334525G>T	NCI-TCGA
rs553396387	p.Cys2168Tyr	missense variant	-	NC_000012.12:g.124334526C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Val2170Phe	missense variant	-	NC_000012.12:g.124334521C>A	NCI-TCGA
rs761207720	p.Val2170Ile	missense variant	-	NC_000012.12:g.124334521C>T	ExAC,TOPMed,gnomAD
rs773702102	p.Asp2172Asn	missense variant	-	NC_000012.12:g.124334515C>T	ExAC,gnomAD
rs772193263	p.Leu2173Phe	missense variant	-	NC_000012.12:g.124334512G>A	ExAC,gnomAD
rs774421685	p.Arg2174His	missense variant	-	NC_000012.12:g.124334508C>T	ExAC,gnomAD
rs761892157	p.Arg2174Cys	missense variant	-	NC_000012.12:g.124334509G>A	ExAC,TOPMed,gnomAD
rs749475732	p.Arg2175His	missense variant	-	NC_000012.12:g.124334505C>T	ExAC,TOPMed,gnomAD
rs768792226	p.Arg2175Cys	missense variant	-	NC_000012.12:g.124334506G>A	ExAC,TOPMed,gnomAD
rs779760728	p.Pro2176Leu	missense variant	-	NC_000012.12:g.124334502G>A	ExAC,gnomAD
rs781292836	p.Ser2178Asn	missense variant	-	NC_000012.12:g.124334496C>T	ExAC,gnomAD
rs376063427	p.Ser2178Gly	missense variant	-	NC_000012.12:g.124334497T>C	ExAC,TOPMed,gnomAD
rs1473466652	p.Leu2180Phe	missense variant	-	NC_000012.12:g.124334491G>A	gnomAD
rs1247274481	p.Tyr2181His	missense variant	-	NC_000012.12:g.124334488A>G	TOPMed
rs1334215741	p.Tyr2181Cys	missense variant	-	NC_000012.12:g.124334487T>C	gnomAD
rs751150087	p.Leu2182Val	missense variant	-	NC_000012.12:g.124334485G>C	ExAC,gnomAD
rs751150087	p.Leu2182Phe	missense variant	-	NC_000012.12:g.124334485G>A	ExAC,gnomAD
rs758038755	p.Pro2183Leu	missense variant	-	NC_000012.12:g.124334481G>A	ExAC,TOPMed,gnomAD
rs1437052822	p.Pro2184His	missense variant	-	NC_000012.12:g.124334478G>T	gnomAD
rs766718171	p.Pro2184Ser	missense variant	-	NC_000012.12:g.124334479G>A	ExAC,gnomAD
rs761009542	p.Pro2185Leu	missense variant	-	NC_000012.12:g.124334475G>A	ExAC,gnomAD
rs768016051	p.Asp2186Glu	missense variant	-	NC_000012.12:g.124334471G>C	ExAC,TOPMed,gnomAD
rs1416059180	p.His2187Asn	missense variant	-	NC_000012.12:g.124334470G>T	TOPMed
rs1273892683	p.Ala2189Ser	missense variant	-	NC_000012.12:g.124334464C>A	gnomAD
rs774314459	p.Ala2189Val	missense variant	-	NC_000012.12:g.124334463G>A	ExAC,TOPMed,gnomAD
rs774314459	p.Ala2189Asp	missense variant	-	NC_000012.12:g.124334463G>T	ExAC,TOPMed,gnomAD
rs1166095857	p.Pro2190Ser	missense variant	-	NC_000012.12:g.124334461G>A	TOPMed
rs200545066	p.Pro2190Leu	missense variant	-	NC_000012.12:g.124334460G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala2191Thr	missense variant	-	NC_000012.12:g.124334458C>T	NCI-TCGA
rs1185602829	p.Ala2191Val	missense variant	-	NC_000012.12:g.124334457G>A	gnomAD
rs546690978	p.Arg2192Cys	missense variant	-	NC_000012.12:g.124334455G>A	ExAC,TOPMed,gnomAD
rs370192215	p.Arg2192His	missense variant	-	NC_000012.12:g.124334454C>T	ESP,ExAC,TOPMed,gnomAD
rs771019226	p.Gly2193Val	missense variant	-	NC_000012.12:g.124334451C>A	ExAC,TOPMed,gnomAD
rs1406745915	p.Gly2193Ser	missense variant	-	NC_000012.12:g.124334452C>T	gnomAD
rs377045126	p.Ser2194Tyr	missense variant	-	NC_000012.12:g.124334448G>T	ESP,gnomAD
rs746945597	p.Pro2195Thr	missense variant	-	NC_000012.12:g.124334446G>T	ExAC,gnomAD
rs746945597	p.Pro2195Ser	missense variant	-	NC_000012.12:g.124334446G>A	ExAC,gnomAD
rs372728146	p.His2196Asp	missense variant	-	NC_000012.12:g.124334443G>C	ExAC,TOPMed,gnomAD
rs372728146	p.His2196Asn	missense variant	-	NC_000012.12:g.124334443G>T	ExAC,TOPMed,gnomAD
rs372728146	p.His2196Tyr	missense variant	-	NC_000012.12:g.124334443G>A	ExAC,TOPMed,gnomAD
rs1436185490	p.His2196Pro	missense variant	-	NC_000012.12:g.124334442T>G	gnomAD
rs181072341	p.Ser2197Arg	missense variant	-	NC_000012.12:g.124334438G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1033579281	p.Glu2198Lys	missense variant	-	NC_000012.12:g.124334437C>T	TOPMed
rs750816925	p.Gly2200Cys	missense variant	-	NC_000012.12:g.124334431C>A	ExAC,TOPMed,gnomAD
rs757808861	p.Lys2201Glu	missense variant	-	NC_000012.12:g.124334428T>C	ExAC,TOPMed,gnomAD
rs200130270	p.Ser2203Thr	missense variant	-	NC_000012.12:g.124333278A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200130270	p.Ser2203Pro	missense variant	-	NC_000012.12:g.124333278A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772075378	p.Ser2203Phe	missense variant	-	NC_000012.12:g.124333277G>A	ExAC,TOPMed,gnomAD
rs1203554753	p.Pro2204Leu	missense variant	-	NC_000012.12:g.124333274G>A	TOPMed
NCI-TCGA novel	p.Pro2206Thr	missense variant	-	NC_000012.12:g.124333269G>T	NCI-TCGA
rs761605201	p.Pro2206Arg	missense variant	-	NC_000012.12:g.124333268G>C	ExAC,gnomAD
rs1240837429	p.Asn2207Lys	missense variant	-	NC_000012.12:g.124333264G>C	TOPMed,gnomAD
rs1462697436	p.Lys2208Glu	missense variant	-	NC_000012.12:g.124333263T>C	TOPMed
rs749006415	p.Thr2209Arg	missense variant	-	NC_000012.12:g.124333259G>C	ExAC,TOPMed,gnomAD
rs1472840	p.Thr2209Pro	missense variant	-	NC_000012.12:g.124333260T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749006415	p.Thr2209Met	missense variant	-	NC_000012.12:g.124333259G>A	ExAC,TOPMed,gnomAD
rs769264421	p.Ser2210Leu	missense variant	-	NC_000012.12:g.124333256G>A	ExAC,TOPMed,gnomAD
rs1036525342	p.Leu2212Phe	missense variant	-	NC_000012.12:g.124333249C>G	TOPMed
rs1295930727	p.Gly2213Ser	missense variant	-	NC_000012.12:g.124333248C>T	gnomAD
COSM6135993	p.Gly2215Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124333241C>A	NCI-TCGA Cosmic
rs1359282987	p.Gly2215Ala	missense variant	-	NC_000012.12:g.124333241C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Gly2218Asp	missense variant	-	NC_000012.12:g.124333232C>T	NCI-TCGA
rs779205903	p.Gly2218Val	missense variant	-	NC_000012.12:g.124333232C>A	ExAC,TOPMed,gnomAD
rs779205903	p.Gly2218Ala	missense variant	-	NC_000012.12:g.124333232C>G	ExAC,TOPMed,gnomAD
rs61754987	p.Gly2218Ser	missense variant	-	NC_000012.12:g.124333233C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755099933	p.Ile2219Phe	missense variant	-	NC_000012.12:g.124333230T>A	ExAC,gnomAD
rs753908360	p.Ile2219Asn	missense variant	-	NC_000012.12:g.124333229A>T	ExAC,TOPMed,gnomAD
rs753908360	p.Ile2219Thr	missense variant	-	NC_000012.12:g.124333229A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro2221His	missense variant	-	NC_000012.12:g.124333223G>T	NCI-TCGA
rs1299566313	p.Pro2221Ser	missense variant	-	NC_000012.12:g.124333224G>A	TOPMed
rs376954852	p.Pro2221Leu	missense variant	-	NC_000012.12:g.124333223G>A	ESP,ExAC,TOPMed,gnomAD
rs750252948	p.Val2222Leu	missense variant	-	NC_000012.12:g.124333221C>A	ExAC,TOPMed,gnomAD
rs750252948	p.Val2222Met	missense variant	-	NC_000012.12:g.124333221C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro2224Ser	missense variant	-	NC_000012.12:g.124333215G>A	NCI-TCGA
rs1190607262	p.Pro2224Thr	missense variant	-	NC_000012.12:g.124333215G>T	gnomAD
rs1475827011	p.Pro2224Leu	missense variant	-	NC_000012.12:g.124333214G>A	gnomAD
rs199516198	p.Pro2225Leu	missense variant	-	NC_000012.12:g.124333211G>A	ESP,ExAC,TOPMed,gnomAD
rs912699519	p.Met2228Thr	missense variant	-	NC_000012.12:g.124333202A>G	TOPMed
rs774943647	p.Thr2229Met	missense variant	-	NC_000012.12:g.124333199G>A	ExAC,TOPMed,gnomAD
rs375757338	p.Pro2231Ala	missense variant	-	NC_000012.12:g.124333194G>C	ESP,ExAC,gnomAD
rs1305192306	p.Pro2231Gln	missense variant	-	NC_000012.12:g.124333193G>T	gnomAD
rs1305192306	p.Pro2231Leu	missense variant	-	NC_000012.12:g.124333193G>A	gnomAD
rs375757338	p.Pro2231Ser	missense variant	-	NC_000012.12:g.124333194G>A	ESP,ExAC,gnomAD
rs552079235	p.His2233Tyr	missense variant	-	NC_000012.12:g.124333188G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs552079235	p.His2233Asn	missense variant	-	NC_000012.12:g.124333188G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs779572859	p.His2233Arg	missense variant	-	NC_000012.12:g.124333187T>C	ExAC,gnomAD
NCI-TCGA novel	p.Arg2235Gly	missense variant	-	NC_000012.12:g.124333182G>C	NCI-TCGA
rs560169210	p.Arg2235Gln	missense variant	-	NC_000012.12:g.124333181C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs753999562	p.Arg2235Trp	missense variant	-	NC_000012.12:g.124333182G>A	ExAC,TOPMed,gnomAD
rs1167178433	p.Ala2237Ser	missense variant	-	NC_000012.12:g.124333176C>A	gnomAD
rs201904368	p.Val2238Met	missense variant	-	NC_000012.12:g.124333173C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr2239His	missense variant	-	NC_000012.12:g.124333170A>G	NCI-TCGA
rs761498985	p.Pro2240Leu	missense variant	-	NC_000012.12:g.124333166G>A	ExAC,TOPMed,gnomAD
rs1407779271	p.Pro2240Ala	missense variant	-	NC_000012.12:g.124333167G>C	TOPMed
rs1251692188	p.Leu2242Met	missense variant	-	NC_000012.12:g.124333161G>T	gnomAD
rs1176209041	p.Arg2244Trp	missense variant	-	NC_000012.12:g.124333155G>A	gnomAD
rs764050780	p.Arg2244Gln	missense variant	-	NC_000012.12:g.124333154C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly2246Val	missense variant	-	NC_000012.12:g.124333148C>A	NCI-TCGA
rs762830157	p.Gln2248Glu	missense variant	-	NC_000012.12:g.124333143G>C	ExAC,TOPMed,gnomAD
rs376860961	p.Thr2249Met	missense variant	-	NC_000012.12:g.124333139G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu2250Gly	missense variant	-	NC_000012.12:g.124333136T>C	NCI-TCGA
NCI-TCGA novel	p.Glu2250GlyPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.124333136_124333137insC	NCI-TCGA
rs769109806	p.Arg2253Thr	missense variant	-	NC_000012.12:g.124332465C>G	ExAC,TOPMed,gnomAD
rs80320256	p.Arg2253Ser	missense variant	-	NC_000012.12:g.124332464C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM936696	p.Met2254Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124332463T>C	NCI-TCGA Cosmic
rs368706721	p.Ser2256Phe	missense variant	-	NC_000012.12:g.124332456G>A	ESP,ExAC,TOPMed,gnomAD
rs368706721	p.Ser2256Cys	missense variant	-	NC_000012.12:g.124332456G>C	ESP,ExAC,TOPMed,gnomAD
rs770276940	p.Lys2257Glu	missense variant	-	NC_000012.12:g.124332454T>C	ExAC,TOPMed,gnomAD
rs374131072	p.Gly2260Ser	missense variant	-	NC_000012.12:g.124332445C>T	ESP,ExAC,TOPMed,gnomAD
rs1453439082	p.Gly2260Asp	missense variant	-	NC_000012.12:g.124332444C>T	gnomAD
rs76392753	p.Thr2262Ala	missense variant	-	NC_000012.12:g.124332439T>C	ExAC,gnomAD
rs1260934465	p.Thr2262Asn	missense variant	-	NC_000012.12:g.124332438G>T	gnomAD
rs76392753	p.Thr2262Pro	missense variant	-	NC_000012.12:g.124332439T>G	ExAC,gnomAD
rs1486507274	p.Gln2264Arg	missense variant	-	NC_000012.12:g.124332432T>C	gnomAD
rs1280798216	p.Pro2265Leu	missense variant	-	NC_000012.12:g.124332429G>A	TOPMed,gnomAD
rs758178960	p.Ala2267Val	missense variant	-	NC_000012.12:g.124332423G>A	ExAC
rs1216638120	p.Ser2270Thr	missense variant	-	NC_000012.12:g.124332414C>G	gnomAD
rs1346563481	p.Thr2273Ile	missense variant	-	NC_000012.12:g.124332405G>A	TOPMed,gnomAD
rs765095254	p.Glu2274Lys	missense variant	-	NC_000012.12:g.124332403C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser2275Ile	missense variant	-	NC_000012.12:g.124332399C>A	NCI-TCGA
rs765962030	p.Ser2275Arg	missense variant	-	NC_000012.12:g.124332398G>C	ExAC
rs370183566	p.Ser2275Gly	missense variant	-	NC_000012.12:g.124332400T>C	ESP,ExAC,TOPMed,gnomAD
rs375952313	p.Ala2278Ser	missense variant	-	NC_000012.12:g.124332391C>A	ESP,ExAC,TOPMed,gnomAD
rs375952313	p.Ala2278Thr	missense variant	-	NC_000012.12:g.124332391C>T	ESP,ExAC,TOPMed,gnomAD
rs1313859236	p.Met2279Val	missense variant	-	NC_000012.12:g.124332388T>C	gnomAD
rs1055379975	p.Met2279Ile	missense variant	-	NC_000012.12:g.124332386C>T	TOPMed
rs374133031	p.Val2280Gly	missense variant	-	NC_000012.12:g.124332384A>C	ESP,TOPMed,gnomAD
COSM415969	p.Lys2283Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124332374C>G	NCI-TCGA Cosmic
rs775884977	p.Lys2284Gln	missense variant	-	NC_000012.12:g.124332373T>G	ExAC,gnomAD
COSM3457776	p.Ile2287Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124332362G>C	NCI-TCGA Cosmic
COSM936694	p.Lys2289Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124332357T>G	NCI-TCGA Cosmic
rs974442586	p.Lys2290Asn	missense variant	-	NC_000012.12:g.124332353C>A	TOPMed
NCI-TCGA novel	p.Leu2291Met	missense variant	-	NC_000012.12:g.124332352G>T	NCI-TCGA
rs1476138729	p.Thr2293Ala	missense variant	-	NC_000012.12:g.124332346T>C	gnomAD
rs535981348	p.Thr2293Ser	missense variant	-	NC_000012.12:g.124332345G>C	ExAC,gnomAD
rs747292908	p.His2294Gln	missense variant	-	NC_000012.12:g.124332341G>C	ExAC,TOPMed,gnomAD
rs945847037	p.Arg2296Leu	missense variant	-	NC_000012.12:g.124332336C>A	TOPMed,gnomAD
rs945847037	p.Arg2296Gln	missense variant	-	NC_000012.12:g.124332336C>T	TOPMed,gnomAD
rs370685396	p.Arg2296Trp	missense variant	-	NC_000012.12:g.124332337G>A	ESP,ExAC,TOPMed,gnomAD
rs1298768569	p.Asn2297Thr	missense variant	-	NC_000012.12:g.124332333T>G	gnomAD
rs772219677	p.Glu2298Lys	missense variant	-	NC_000012.12:g.124332331C>T	ExAC
rs377394425	p.Pro2299Ser	missense variant	-	NC_000012.12:g.124332328G>A	ESP,ExAC,TOPMed,gnomAD
rs377394425	p.Pro2299Ala	missense variant	-	NC_000012.12:g.124332328G>C	ESP,ExAC,TOPMed,gnomAD
COSM3811408	p.Glu2300Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.124332325C>A	NCI-TCGA Cosmic
rs138341911	p.Asn2302Asp	missense variant	-	NC_000012.12:g.124332319T>C	1000Genomes,ExAC,gnomAD
rs138341911	p.Asn2302His	missense variant	-	NC_000012.12:g.124332319T>G	1000Genomes,ExAC,gnomAD
rs1469850631	p.Asn2302Ile	missense variant	-	NC_000012.12:g.124330898T>A	gnomAD
rs1469850631	p.Asn2302Ser	missense variant	-	NC_000012.12:g.124330898T>C	gnomAD
rs1253709561	p.Ile2303Val	missense variant	-	NC_000012.12:g.124330896T>C	gnomAD
rs780828763	p.Ser2304Asn	missense variant	-	NC_000012.12:g.124330892C>T	ExAC,TOPMed,gnomAD
rs1287003742	p.Ser2304Arg	missense variant	-	NC_000012.12:g.124330891G>T	gnomAD
rs2228587	p.Ser2304Gly	missense variant	-	NC_000012.12:g.124330893T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1206063681	p.Pro2306Arg	missense variant	-	NC_000012.12:g.124330886G>C	gnomAD
rs1253736652	p.Gly2307Arg	missense variant	-	NC_000012.12:g.124330884C>T	gnomAD
rs756901061	p.Thr2308Met	missense variant	-	NC_000012.12:g.124330880G>A	ExAC,TOPMed,gnomAD
rs765580768	p.Glu2309Gln	missense variant	-	NC_000012.12:g.124330878C>G	ExAC,gnomAD
rs368715193	p.Ala2315Thr	missense variant	-	NC_000012.12:g.124330860C>T	ESP,ExAC,TOPMed,gnomAD
rs1433766769	p.Thr2317Ile	missense variant	-	NC_000012.12:g.124330853G>A	gnomAD
rs761117621	p.Gly2318Ter	stop gained	-	NC_000012.12:g.124330851C>A	ExAC,gnomAD
rs761117621	p.Gly2318Arg	missense variant	-	NC_000012.12:g.124330851C>T	ExAC,gnomAD
rs1399848796	p.Gly2318Glu	missense variant	-	NC_000012.12:g.124330850C>T	gnomAD
rs1399848796	p.Gly2318Ala	missense variant	-	NC_000012.12:g.124330850C>G	gnomAD
rs1437205741	p.Met2322Val	missense variant	-	NC_000012.12:g.124327628T>C	gnomAD
rs935417167	p.Met2322Thr	missense variant	-	NC_000012.12:g.124327627A>G	TOPMed
rs370064389	p.Tyr2324Cys	missense variant	-	NC_000012.12:g.124327621T>C	TOPMed
rs780460583	p.Tyr2324Asn	missense variant	-	NC_000012.12:g.124327622A>T	ExAC,gnomAD
rs370064389	p.Tyr2324Phe	missense variant	-	NC_000012.12:g.124327621T>A	TOPMed
rs1041498688	p.Arg2325Lys	missense variant	-	NC_000012.12:g.124327618C>T	TOPMed
rs1184017451	p.Ser2326Asn	missense variant	-	NC_000012.12:g.124327615C>T	TOPMed
rs1379594035	p.Gln2327Lys	missense variant	-	NC_000012.12:g.124327613G>T	TOPMed
rs750726938	p.Ala2328Val	missense variant	-	NC_000012.12:g.124327609G>A	ExAC,TOPMed,gnomAD
rs947254838	p.Ala2328Thr	missense variant	-	NC_000012.12:g.124327610C>T	TOPMed
rs750726938	p.Ala2328Glu	missense variant	-	NC_000012.12:g.124327609G>T	ExAC,TOPMed,gnomAD
rs201624482	p.Val2329Met	missense variant	-	NC_000012.12:g.124327607C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1317324666	p.His2332Tyr	missense variant	-	NC_000012.12:g.124327598G>A	gnomAD
COSM4039886	p.Ala2333Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124327594G>A	NCI-TCGA Cosmic
rs1453794674	p.Met2337Val	missense variant	-	NC_000012.12:g.124327583T>C	TOPMed
rs1239706649	p.Met2337Ile	missense variant	-	NC_000012.12:g.124327581C>T	gnomAD
rs763334125	p.Ala2341Thr	missense variant	-	NC_000012.12:g.124327571C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ile2342Val	missense variant	-	NC_000012.12:g.124327568T>C	NCI-TCGA
rs376572172	p.Met2348Thr	missense variant	-	NC_000012.12:g.124327549A>G	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Lys2350Glu	missense variant	-	NC_000012.12:g.124327544T>C	NCI-TCGA
rs765495545	p.Tyr2351His	missense variant	-	NC_000012.12:g.124327541A>G	ExAC
rs1390609603	p.Gln2353Arg	missense variant	-	NC_000012.12:g.124327534T>C	gnomAD
rs759407295	p.Trp2354Arg	missense variant	-	NC_000012.12:g.124327532A>G	ExAC,gnomAD
rs776245999	p.Glu2356Gly	missense variant	-	NC_000012.12:g.124327525T>C	ExAC,gnomAD
rs770920489	p.Ser2357Pro	missense variant	-	NC_000012.12:g.124327523A>G	ExAC,TOPMed,gnomAD
rs770920489	p.Ser2357Thr	missense variant	-	NC_000012.12:g.124327523A>T	ExAC,TOPMed,gnomAD
rs375005017	p.Pro2358Leu	missense variant	-	NC_000012.12:g.124327519G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199616664	p.Pro2359Leu	missense variant	-	NC_000012.12:g.124327516G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu2360Pro	missense variant	-	NC_000012.12:g.124327513A>G	NCI-TCGA
rs374652701	p.Ser2361Gly	missense variant	-	NC_000012.12:g.124327511T>C	ESP,ExAC,TOPMed,gnomAD
rs187448656	p.Ala2362Thr	missense variant	-	NC_000012.12:g.124327508C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1285061389	p.Ala2362Gly	missense variant	-	NC_000012.12:g.124327507G>C	gnomAD
rs370212035	p.Asn2363His	missense variant	-	NC_000012.12:g.124327505T>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala2364Thr	missense variant	-	NC_000012.12:g.124327502C>T	NCI-TCGA
rs758564156	p.Pro2367Thr	missense variant	-	NC_000012.12:g.124327493G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu2368Met	missense variant	-	NC_000012.12:g.124327490G>T	NCI-TCGA
COSM692432	p.Asn2369Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124327487T>C	NCI-TCGA Cosmic
rs574110280	p.Asn2369Ile	missense variant	-	NC_000012.12:g.124327486T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs574110280	p.Asn2369Ser	missense variant	-	NC_000012.12:g.124327486T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs765585216	p.Ala2370Val	missense variant	-	NC_000012.12:g.124327483G>A	ExAC,TOPMed,gnomAD
rs753712242	p.Ser2371Asn	missense variant	-	NC_000012.12:g.124327480C>T	ExAC,gnomAD
rs760736813	p.Ser2373Gly	missense variant	-	NC_000012.12:g.124327475T>C	ExAC,gnomAD
rs1376868688	p.Ser2373Arg	missense variant	-	NC_000012.12:g.124327473G>C	TOPMed,gnomAD
COSM4840515	p.Pro2375Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124327469G>A	NCI-TCGA Cosmic
rs1398470906	p.Pro2375Leu	missense variant	-	NC_000012.12:g.124327468G>A	TOPMed
rs771941750	p.Ala2376Val	missense variant	-	NC_000012.12:g.124327465G>A	ExAC,TOPMed,gnomAD
rs773013649	p.Ala2376Thr	missense variant	-	NC_000012.12:g.124327466C>T	ExAC,gnomAD
rs200471155	p.Ile2380Leu	missense variant	-	NC_000012.12:g.124327454T>G	1000Genomes,ExAC,gnomAD
rs200471155	p.Ile2380Val	missense variant	-	NC_000012.12:g.124327454T>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ala2382Asp	missense variant	-	NC_000012.12:g.124327447G>T	NCI-TCGA
rs201513599	p.Ala2382Thr	missense variant	-	NC_000012.12:g.124327448C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs999492095	p.Ala2382Gly	missense variant	-	NC_000012.12:g.124327447G>C	TOPMed
rs1259824458	p.Ala2383Thr	missense variant	-	NC_000012.12:g.124327445C>T	gnomAD
rs375299131	p.Asp2384Glu	missense variant	-	NC_000012.12:g.124327440G>C	ESP,ExAC,TOPMed,gnomAD
rs373620221	p.Gly2385Arg	missense variant	-	NC_000012.12:g.124327439C>T	ESP,TOPMed,gnomAD
rs552340226	p.Arg2386Gln	missense variant	-	NC_000012.12:g.124327435C>T	1000Genomes,ExAC,gnomAD
rs577903613	p.Arg2386Trp	missense variant	-	NC_000012.12:g.124327436G>A	ExAC,TOPMed,gnomAD
rs758931886	p.Ser2387Thr	missense variant	-	NC_000012.12:g.124327432C>G	ExAC
rs201100257	p.His2389Arg	missense variant	-	NC_000012.12:g.124327426T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1398484546	p.Thr2390Ala	missense variant	-	NC_000012.12:g.124327424T>C	TOPMed,gnomAD
rs375362447	p.Leu2391His	missense variant	-	NC_000012.12:g.124327420A>T	ESP,ExAC,TOPMed,gnomAD
rs766258727	p.Thr2392Ile	missense variant	-	NC_000012.12:g.124327417G>A	ExAC,gnomAD
rs368691194	p.Ser2393Leu	missense variant	-	NC_000012.12:g.124327414G>A	ESP,ExAC,TOPMed,gnomAD
rs368691194	p.Ser2393Trp	missense variant	-	NC_000012.12:g.124327414G>C	ESP,ExAC,TOPMed,gnomAD
rs199762590	p.Gly2397Ser	missense variant	-	NC_000012.12:g.124326365C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199762590	p.Gly2397Arg	missense variant	-	NC_000012.12:g.124326365C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781032831	p.Gly2398Arg	missense variant	-	NC_000012.12:g.124326362C>T	ExAC,gnomAD
rs1302049205	p.Gly2398Glu	missense variant	-	NC_000012.12:g.124326361C>T	TOPMed
rs757056972	p.Ala2400Thr	missense variant	-	NC_000012.12:g.124326356C>T	ExAC,gnomAD
rs1218837622	p.Lys2401Glu	missense variant	-	NC_000012.12:g.124326353T>C	TOPMed,gnomAD
rs1354513288	p.Val2402Asp	missense variant	-	NC_000012.12:g.124326349A>T	gnomAD
rs1322834666	p.Pro2406Leu	missense variant	-	NC_000012.12:g.124326337G>A	TOPMed,gnomAD
rs1057391751	p.Ser2408Thr	missense variant	-	NC_000012.12:g.124326331C>G	gnomAD
rs1057391751	p.Ser2408Ile	missense variant	-	NC_000012.12:g.124326331C>A	gnomAD
rs377742489	p.Arg2409Gln	missense variant	-	NC_000012.12:g.124326328C>T	ESP,ExAC,TOPMed,gnomAD
rs777601321	p.Lys2410Ile	missense variant	-	NC_000012.12:g.124326325T>A	ExAC,gnomAD
rs758304924	p.Ala2411Val	missense variant	-	NC_000012.12:g.124326322G>A	ExAC,TOPMed,gnomAD
rs964951999	p.Pro2414Ala	missense variant	-	NC_000012.12:g.124326314G>C	TOPMed,gnomAD
rs752194984	p.Pro2414Leu	missense variant	-	NC_000012.12:g.124326313G>A	ExAC,TOPMed,gnomAD
rs964951999	p.Pro2414Ser	missense variant	-	NC_000012.12:g.124326314G>A	TOPMed,gnomAD
rs201708257	p.Ala2415Val	missense variant	-	NC_000012.12:g.124326310G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753531077	p.Pro2416Leu	missense variant	-	NC_000012.12:g.124326307G>A	ExAC,TOPMed,gnomAD
rs753531077	p.Pro2416Gln	missense variant	-	NC_000012.12:g.124326307G>T	ExAC,TOPMed,gnomAD
rs762276158	p.Leu2418Pro	missense variant	-	NC_000012.12:g.124326301A>G	ExAC,gnomAD
rs774818684	p.Ala2419Ser	missense variant	-	NC_000012.12:g.124326299C>A	ExAC,TOPMed,gnomAD
rs769068205	p.Ala2419Val	missense variant	-	NC_000012.12:g.124326298G>A	ExAC,TOPMed,gnomAD
rs775472913	p.Ser2420Phe	missense variant	-	NC_000012.12:g.124326295G>A	ExAC,gnomAD
rs1367727521	p.Gly2421Arg	missense variant	-	NC_000012.12:g.124326293C>G	gnomAD
rs988871778	p.Asp2422Tyr	missense variant	-	NC_000012.12:g.124326290C>A	TOPMed,gnomAD
rs988871778	p.Asp2422Asn	missense variant	-	NC_000012.12:g.124326290C>T	TOPMed,gnomAD
rs1328192855	p.Arg2423Gln	missense variant	-	NC_000012.12:g.124326286C>T	TOPMed,gnomAD
rs1328192855	p.Arg2423Leu	missense variant	-	NC_000012.12:g.124326286C>A	TOPMed,gnomAD
rs745889915	p.Pro2425Ser	missense variant	-	NC_000012.12:g.124326281G>A	ExAC,TOPMed
rs1002391549	p.Glu2433Lys	missense variant	-	NC_000012.12:g.124326257C>T	TOPMed
rs771099650	p.Glu2433Gly	missense variant	-	NC_000012.12:g.124326256T>C	ExAC,gnomAD
rs777598200	p.Cys2436Tyr	missense variant	-	NC_000012.12:g.124326247C>T	ExAC,TOPMed,gnomAD
rs369730227	p.Arg2438Cys	missense variant	-	NC_000012.12:g.124326242G>A	ESP,ExAC,gnomAD
rs375097070	p.Arg2438His	missense variant	-	NC_000012.12:g.124326241C>T	ESP,ExAC,TOPMed,gnomAD
rs375097070	p.Arg2438Pro	missense variant	-	NC_000012.12:g.124326241C>G	ESP,ExAC,TOPMed,gnomAD
rs200604426	p.Arg2439Leu	missense variant	-	NC_000012.12:g.124326238C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1244374022	p.Arg2439Trp	missense variant	-	NC_000012.12:g.124326239G>A	gnomAD
rs200604426	p.Arg2439Gln	missense variant	-	NC_000012.12:g.124326238C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754553165	p.Thr2440Met	missense variant	-	NC_000012.12:g.124326235G>A	ExAC,gnomAD
rs766163267	p.Pro2441Leu	missense variant	-	NC_000012.12:g.124326232G>A	ExAC,TOPMed,gnomAD
rs751919228	p.Arg2445His	missense variant	-	NC_000012.12:g.124326220C>T	ExAC,TOPMed,gnomAD
rs760358213	p.Arg2445Cys	missense variant	-	NC_000012.12:g.124326221G>A	ExAC,gnomAD
rs764489855	p.Val2446Met	missense variant	-	NC_000012.12:g.124326218C>T	ExAC,TOPMed,gnomAD
rs1296509600	p.Trp2447Leu	missense variant	-	NC_000012.12:g.124326214C>A	gnomAD
rs1027083621	p.Asp2449Asn	missense variant	-	NC_000012.12:g.124326209C>T	gnomAD
rs1473474902	p.Ser2452Leu	missense variant	-	NC_000012.12:g.124326199G>A	TOPMed
rs1412887711	p.Ala2454Thr	missense variant	-	NC_000012.12:g.124326194C>T	TOPMed,gnomAD
rs765753587	p.Thr2457Ala	missense variant	-	NC_000012.12:g.124325578T>C	ExAC,gnomAD
rs1026261301	p.Thr2457Met	missense variant	-	NC_000012.12:g.124325577G>A	TOPMed
rs995765280	p.Asn2462Asp	missense variant	-	NC_000012.12:g.124325563T>C	TOPMed
rs1388925128	p.Met2466Ile	missense variant	-	NC_000012.12:g.124325549C>G	TOPMed
rs200312114	p.Arg2467Gln	missense variant	-	NC_000012.12:g.124325547C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs766439355	p.Leu2468Gln	missense variant	-	NC_000012.12:g.124325544A>T	ExAC,TOPMed,gnomAD
rs773493099	p.Ala2470Val	missense variant	-	NC_000012.12:g.124325538G>A	ExAC,TOPMed,gnomAD
rs528112018	p.Ala2470Thr	missense variant	-	NC_000012.12:g.124325539C>T	1000Genomes,ExAC,gnomAD
rs1342977330	p.Gly2471Asp	missense variant	-	NC_000012.12:g.124325535C>T	TOPMed
rs1421195924	p.Val2472Ile	missense variant	-	NC_000012.12:g.124325533C>T	gnomAD
rs367615636	p.Ala2474Val	missense variant	-	NC_000012.12:g.124325526G>A	ExAC,TOPMed,gnomAD
rs748010582	p.Ala2474Ser	missense variant	-	NC_000012.12:g.124325527C>A	ExAC,TOPMed,gnomAD
rs1349672396	p.Ser2475Phe	missense variant	-	NC_000012.12:g.124325523G>A	gnomAD
rs1421127756	p.Pro2477Ser	missense variant	-	NC_000012.12:g.124325518G>A	gnomAD
rs1192764789	p.Pro2477Leu	missense variant	-	NC_000012.12:g.124325517G>A	TOPMed
rs1427785449	p.Pro2478Ser	missense variant	-	NC_000012.12:g.124325515G>A	TOPMed
rs749208308	p.Pro2478Leu	missense variant	-	NC_000012.12:g.124325514G>A	ExAC,gnomAD
rs1427785449	p.Pro2478Ala	missense variant	-	NC_000012.12:g.124325515G>C	TOPMed
rs1177439090	p.Pro2479Leu	missense variant	-	NC_000012.12:g.124325511G>A	gnomAD
rs745312035	p.Ala2483Thr	missense variant	-	NC_000012.12:g.124325500C>T	ExAC,TOPMed,gnomAD
rs1488001578	p.Ala2483Val	missense variant	-	NC_000012.12:g.124325499G>A	gnomAD
rs745312035	p.Ala2483Ser	missense variant	-	NC_000012.12:g.124325500C>A	ExAC,TOPMed,gnomAD
rs780928167	p.Gly2484Val	missense variant	-	NC_000012.12:g.124325496C>A	ExAC,gnomAD
rs1287071742	p.Ser2485Asn	missense variant	-	NC_000012.12:g.124325493C>T	TOPMed,gnomAD
rs1245402432	p.Ala2489Asp	missense variant	-	NC_000012.12:g.124325481G>T	TOPMed
rs77107801	p.Ala2489Thr	missense variant	-	NC_000012.12:g.124325482C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754325173	p.Gly2490Val	missense variant	-	NC_000012.12:g.124325478C>A	ExAC,TOPMed,gnomAD
rs754325173	p.Gly2490Ala	missense variant	-	NC_000012.12:g.124325478C>G	ExAC,TOPMed,gnomAD
rs1222597272	p.Pro2491Leu	missense variant	-	NC_000012.12:g.124325475G>A	TOPMed
rs1323803481	p.Pro2491Ser	missense variant	-	NC_000012.12:g.124325476G>A	TOPMed
rs542753452	p.His2492Arg	missense variant	-	NC_000012.12:g.124325472T>C	1000Genomes
rs1402295087	p.His2493Tyr	missense variant	-	NC_000012.12:g.124325470G>A	TOPMed,gnomAD
rs1052739974	p.Ala2494Thr	missense variant	-	NC_000012.12:g.124325467C>T	TOPMed,gnomAD
rs1052739974	p.Ala2494Pro	missense variant	-	NC_000012.12:g.124325467C>G	TOPMed,gnomAD
rs985828412	p.Trp2495Gly	missense variant	-	NC_000012.12:g.124325464A>C	TOPMed,gnomAD
rs1378873505	p.Trp2495Ter	stop gained	-	NC_000012.12:g.124325462C>T	gnomAD
rs985828412	p.Trp2495Arg	missense variant	-	NC_000012.12:g.124325464A>G	TOPMed,gnomAD
rs1356203889	p.Glu2497Lys	missense variant	-	NC_000012.12:g.124325458C>T	TOPMed,gnomAD
rs1282978323	p.Glu2498Asp	missense variant	-	NC_000012.12:g.124325453C>A	TOPMed,gnomAD
rs1445089258	p.Lys2500Arg	missense variant	-	NC_000012.12:g.124325448T>C	gnomAD
rs767805948	p.Ser2505Leu	missense variant	-	NC_000012.12:g.124325433G>A	ExAC,TOPMed,gnomAD
rs1007255615	p.Gln2506Lys	missense variant	-	NC_000012.12:g.124325431G>T	TOPMed
rs1216174003	p.Glu2508Lys	missense variant	-	NC_000012.12:g.124325425C>T	TOPMed,gnomAD
rs1216174003	p.Glu2508Gln	missense variant	-	NC_000012.12:g.124325425C>G	TOPMed,gnomAD
rs774329880	p.Glu2514Lys	missense variant	-	NC_000012.12:g.124325407C>T	ExAC,gnomAD
rs1269927020	p.Glu2514Gly	missense variant	-	NC_000012.12:g.124325406T>C	TOPMed
rs774329880	p.Glu2514Gln	missense variant	-	NC_000012.12:g.124325407C>G	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001815	Primary Myelofibrosis	disease	MGD
C0004135	Ataxia Telangiectasia	disease	BEFREE
C0005586	Bipolar Disorder	disease	BEFREE;PSYGENET
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007124	Noninfiltrating Intraductal Carcinoma	disease	BEFREE
C0009081	Congenital clubfoot	disease	BEFREE
C0009404	Colorectal Neoplasms	group	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0014173	Endometrial Hyperplasia	disease	BEFREE
C0017636	Glioblastoma	disease	BEFREE
C0019693	HIV Infections	group	BEFREE
C0019829	Hodgkin Disease	disease	BEFREE
C0020676	Hypothyroidism	disease	BEFREE
C0023267	Fibroid Tumor	group	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0023487	Acute Promyelocytic Leukemia	disease	BEFREE
C0023893	Liver Cirrhosis, Experimental	disease	CTD_human
C0024305	Lymphoma, Non-Hodgkin	disease	BEFREE
C0025517	Metabolic Diseases	group	BEFREE
C0026764	Multiple Myeloma	disease	BEFREE
C0026847	Spinal Muscular Atrophy	disease	BEFREE
C0026987	Myelofibrosis	disease	MGD
C0027051	Myocardial Infarction	disease	GWASDB
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027819	Neuroblastoma	group	BEFREE
C0028754	Obesity	disease	BEFREE
C0028756	Obesity, Morbid	disease	BEFREE
C0029408	Degenerative polyarthritis	disease	BEFREE
C0033578	Prostatic Neoplasms	group	LHGDN
C0035372	Rett Syndrome	disease	BEFREE
C0042133	Uterine Fibroids	group	BEFREE
C0079731	B-Cell Lymphomas	group	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0231341	Premature aging syndrome	disease	BEFREE
C0278493	Breast cancer recurrent	disease	BEFREE
C0369183	Erythrocyte Mean Corpuscular Hemoglobin Test	phenotype	GWASDB
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0521158	Recurrent tumor	phenotype	BEFREE
C0598766	Leukemogenesis	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0600427	Cocaine Dependence	disease	GWASCAT
C0678222	Breast Carcinoma	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1261502	Finding of Mean Corpuscular Hemoglobin	phenotype	GWASDB
C1458155	Mammary Neoplasms	group	BEFREE;LHGDN
C2745900	Promyelocytic leukemia	disease	BEFREE
C2940786	Thyroid Hormone Resistance Syndrome	disease	BEFREE
C3854333	Narrowing	phenotype	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0001012	RNA polymerase II regulatory region DNA binding	IBA
GO:0003682	chromatin binding	IBA
GO:0003714	transcription corepressor activity	IMP
GO:0003714	transcription corepressor activity	IDA
GO:0003714	transcription corepressor activity	IBA
GO:0005112	Notch binding	IPI
GO:0005515	protein binding	IPI
GO:0035257	nuclear hormone receptor binding	IBA
GO:0035259	glucocorticoid receptor binding	IEA
GO:0042826	histone deacetylase binding	IPI
GO:0042826	histone deacetylase binding	IBA
GO:0043565	sequence-specific DNA binding	IBA
GO:0044877	protein-containing complex binding	IEA
GO:0046965	retinoid X receptor binding	IEA
GO:0047485	protein N-terminus binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	negative regulation of transcription by RNA polymerase II	TAS
GO:0007595	lactation	IEA
GO:0010243	response to organonitrogen compound	IEA
GO:0010565	regulation of cellular ketone metabolic process	IMP
GO:0019216	regulation of lipid metabolic process	TAS
GO:0032355	response to estradiol	IEA
GO:0044849	estrous cycle	IEA
GO:0045892	negative regulation of transcription, DNA-templated	IMP
GO:0060766	negative regulation of androgen receptor signaling pathway	IMP
GO:1903799	negative regulation of production of miRNAs involved in gene silencing by miRNA	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000118	histone deacetylase complex	IBA
GO:0000790	nuclear chromatin	IDA
GO:0000790	nuclear chromatin	IBA
GO:0005634	nucleus	IDA
GO:0005634	nucleus	IC
GO:0005634	nucleus	IBA
GO:0005654	nucleoplasm	IDA
GO:0005654	nucleoplasm	TAS
GO:0016020	membrane	HDA
GO:0016363	nuclear matrix	IDA
GO:0016604	nuclear body	IDA
GO:0017053	transcriptional repressor complex	IDA
GO:0017053	transcriptional repressor complex	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1266738	Developmental Biology	IEA
R-HSA-1266738	Developmental Biology	TAS
R-HSA-1430728	Metabolism	TAS
R-HSA-157118	Signaling by NOTCH	IEA
R-HSA-162582	Signal Transduction	IEA
R-HSA-162582	Signal Transduction	TAS
R-HSA-1643685	Disease	TAS
R-HSA-1643685	Disease	IEA
R-HSA-170834	Signaling by TGF-beta Receptor Complex	IEA
R-HSA-170834	Signaling by TGF-beta Receptor Complex	TAS
R-HSA-1980143	Signaling by NOTCH1	IEA
R-HSA-1989781	PPARA activates gene expression	TAS
R-HSA-2122947	NOTCH1 Intracellular Domain Regulates Transcription	IEA
R-HSA-212436	Generic Transcription Pathway	TAS
R-HSA-212436	Generic Transcription Pathway	IEA
R-HSA-2173793	Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer	IEA
R-HSA-2173793	Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer	TAS
R-HSA-2173795	Downregulation of SMAD2/3:SMAD4 transcriptional activity	IEA
R-HSA-2173795	Downregulation of SMAD2/3:SMAD4 transcriptional activity	TAS
R-HSA-2644602	Signaling by NOTCH1 PEST Domain Mutants in Cancer	TAS
R-HSA-2644603	Signaling by NOTCH1 in Cancer	TAS
R-HSA-2644606	Constitutive Signaling by NOTCH1 PEST Domain Mutants	TAS
R-HSA-2894858	Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer	TAS
R-HSA-2894862	Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants	TAS
R-HSA-2990846	SUMOylation	IEA
R-HSA-3108232	SUMO E3 ligases SUMOylate target proteins	IEA
R-HSA-3214815	HDACs deacetylate histones	TAS
R-HSA-3247509	Chromatin modifying enzymes	TAS
R-HSA-350054	Notch-HLH transcription pathway	TAS
R-HSA-381340	Transcriptional regulation of white adipocyte differentiation	IEA
R-HSA-381340	Transcriptional regulation of white adipocyte differentiation	TAS
R-HSA-383280	Nuclear Receptor transcription pathway	TAS
R-HSA-3899300	SUMOylation of transcription cofactors	IEA
R-HSA-392499	Metabolism of proteins	IEA
R-HSA-400206	Regulation of lipid metabolism by PPARalpha	TAS
R-HSA-4839726	Chromatin organization	TAS
R-HSA-556833	Metabolism of lipids	TAS
R-HSA-5663202	Diseases of signal transduction	TAS
R-HSA-5663205	Infectious disease	TAS
R-HSA-597592	Post-translational protein modification	IEA
R-HSA-73857	RNA Polymerase II Transcription	TAS
R-HSA-73857	RNA Polymerase II Transcription	IEA
R-HSA-74160	Gene expression (Transcription)	TAS
R-HSA-74160	Gene expression (Transcription)	IEA
R-HSA-8986944	Transcriptional Regulation by MECP2	IEA
R-HSA-9005891	Loss of function of MECP2 in Rett syndrome	IEA
R-HSA-9005895	Pervasive developmental disorders	IEA
R-HSA-9006931	Signaling by Nuclear Receptors	TAS
R-HSA-9006936	Signaling by TGF-beta family members	IEA
R-HSA-9006936	Signaling by TGF-beta family members	TAS
R-HSA-9022537	Loss of MECP2 binding ability to the NCoR/SMRT complex	IEA
R-HSA-9022692	Regulation of MECP2 expression and activity	IEA
R-HSA-9024446	NR1H2 and NR1H3-mediated signaling	TAS
R-HSA-9029569	NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux	TAS
R-HSA-9609646	HCMV Infection	TAS
R-HSA-9609690	HCMV Early Events	TAS
R-HSA-9623433	NR1H2 & NR1H3 regulate gene expression to control bile acid homeostasis	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C492909	1,1-bis(3'-indolyl)-1-(4-trifluoromethylphenyl)methane	[1,1-bis(3'-indolyl)-1-(4-trifluoromethylphenyl)methane binds to and results in increased activity of PPARG protein] inhibits the reaction [[manganese chloride co-treated with TNF protein co-treated with IFNG protein] promotes the reaction [NCOR2 protein binds to NOS2 enhancer]]	18041089
C016780	11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid	[Cannabinoids results in increased abundance of 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid] which affects the methylation of NCOR2 gene	30521419
C031763	1,3-butadiene	1,3-butadiene results in decreased expression of NCOR2 mRNA	29038090
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 NCOR2 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 F] results in decreased expression of NCOR2 mRNA	28628672
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in increased expression of NCOR2 mRNA	25380136
C093973	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [Thyroxine inhibits the reaction [THRB protein binds to NCOR2 protein]]	22227104
C093973	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [Triiodothyronine inhibits the reaction [THRB protein binds to NCOR2 protein]]	22227104
C093973	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [[Bicuculline co-treated with 4-Aminopyridine] affects the localization of NCOR2 protein]	15773917
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of NCOR2 mRNA	21346803
C012796	2-butenal	2-butenal results in decreased expression of NCOR2 mRNA	20471460
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in increased expression of NCOR2 mRNA	28973690
C549543	3-hydroxy-4-prenyl-5-methoxystilbene-2-carboxylic acid	3-hydroxy-4-prenyl-5-methoxystilbene-2-carboxylic acid analog results in decreased expression of NCOR2 mRNA	25716159
C583074	4,4'-hexafluorisopropylidene diphenol	[4,4'-hexafluorisopropylidene diphenol binds to and affects the folding of AR protein] promotes the reaction [AR protein modified form binds to NCOR2 protein modified form]	28751236
C583074	4,4'-hexafluorisopropylidene diphenol	4,4'-hexafluorisopropylidene diphenol inhibits the reaction [ESR1 protein binds to NCOR2 protein]	29389661
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with methylmercuric chloride 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 NCOR2 mRNA	27188386
C035207	4-amino-2,6-dinitrotoluene	4-amino-2,6-dinitrotoluene affects the expression of NCOR2 mRNA	21346803
D015761	4-Aminopyridine	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [[Bicuculline co-treated with 4-Aminopyridine] affects the localization of NCOR2 protein]	15773917
D015761	4-Aminopyridine	[Bicuculline co-treated with 4-Aminopyridine] affects the localization of NCOR2 protein	15773917
D015761	4-Aminopyridine	KN 62 inhibits the reaction [[Bicuculline co-treated with 4-Aminopyridine] affects the localization of NCOR2 protein]	15773917
D015761	4-Aminopyridine	STO 609 inhibits the reaction [[Bicuculline co-treated with 4-Aminopyridine] affects the localization of NCOR2 protein]	15773917
C496492	abrine	abrine results in decreased expression of NCOR2 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of NCOR2 mRNA	21420995
D000082	Acetaminophen	Acetaminophen results in increased expression of NCOR2 mRNA	22230336
D000082	Acetaminophen	Acetaminophen affects the expression of NCOR2 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of NCOR2 gene	28458013
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of NCOR2 intron	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of NCOR2 mRNA	19770486
C029753	aflatoxin B2	aflatoxin B2 results in decreased methylation of NCOR2 intron	30157460
C412373	AG 1879	AG 1879 inhibits the reaction [Thyroxine inhibits the reaction [THRB protein binds to NCOR2 protein]]	22227104
C412373	AG 1879	AG 1879 inhibits the reaction [Triiodothyronine inhibits the reaction [THRB protein binds to NCOR2 protein]]	22227104
D000661	Amphetamine	Amphetamine results in decreased expression of NCOR2 mRNA	30779732
D000737	Androstenols	Androstenols promotes the reaction [NCOR2 protein binds to NR1I3 protein]	28289823
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of NCOR2 mRNA	24449571
D001151	Arsenic	Arsenic affects the methylation of NCOR2 gene	25304211
C015001	arsenite	arsenite results in increased expression of NCOR2 mRNA	18191166
D001280	Atrazine	Atrazine results in decreased expression of NCOR2 mRNA	25929836
D001397	Azoxymethane	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in increased expression of NCOR2 mRNA	29950665
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of NCOR2 mRNA	23306105
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of NCOR2 intron	30157460
D001564	Benzo(a)pyrene	AHR protein inhibits the reaction [Benzo(a)pyrene results in increased expression of NCOR2 mRNA]	15034205
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of NCOR2 mRNA	15034205
C026487	benzo(e)pyrene	benzo(e)pyrene affects the methylation of NCOR2 intron	30157460
C072553	benzyloxycarbonylleucyl-leucyl-leucine aldehyde	benzyloxycarbonylleucyl-leucyl-leucine aldehyde results in increased stability of and results in increased expression of NCOR2 protein	15857753
C053541	bicalutamide	bicalutamide promotes the reaction [AR protein binds to NCOR2 protein]	11981028
D001640	Bicuculline	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [[Bicuculline co-treated with 4-Aminopyridine] affects the localization of NCOR2 protein]	15773917
D001640	Bicuculline	[Bicuculline co-treated with 4-Aminopyridine] affects the localization of NCOR2 protein	15773917
D001640	Bicuculline	KN 62 inhibits the reaction [[Bicuculline co-treated with 4-Aminopyridine] affects the localization of NCOR2 protein]	15773917
D001640	Bicuculline	STO 609 inhibits the reaction [[Bicuculline co-treated with 4-Aminopyridine] affects the localization of NCOR2 protein]	15773917
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone inhibits the reaction [ESR1 protein binds to NCOR2 protein]	29389661
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 NCOR2 mRNA	28628672
C006780	bisphenol A	bisphenol A affects the expression of NCOR2 mRNA	21786754; 30248606;
C006780	bisphenol A	bisphenol A results in increased methylation of NCOR2 intron	30906313
C006780	bisphenol A	[bisphenol A binds to and affects the folding of AR protein] promotes the reaction [AR protein modified form binds to NCOR2 protein modified form]	28751236
C006780	bisphenol A	bisphenol A inhibits the reaction [ESR1 protein binds to NCOR2 protein]	29389661
C006780	bisphenol A	bisphenol A inhibits the reaction [NCOR2 protein binds to and results in decreased activity of NR1I2 protein]	22214767
C006780	bisphenol A	bisphenol A inhibits the reaction [Thyroxine inhibits the reaction [THRB protein binds to NCOR2 protein]]	22227104
C006780	bisphenol A	bisphenol A inhibits the reaction [Triiodothyronine inhibits the reaction [THRB protein binds to NCOR2 protein]]	22227104
C006780	bisphenol A	ITGB3 inhibits the reaction [bisphenol A inhibits the reaction [Thyroxine inhibits the reaction [NCOR2 protein binds to and results in decreased activity of THRB protein]]]	22227104
C006780	bisphenol A	ITGB3 inhibits the reaction [bisphenol A inhibits the reaction [Triiodothyronine inhibits the reaction [NCOR2 protein binds to and results in decreased activity of THRB protein]]]	22227104
C006780	bisphenol A	SRC inhibits the reaction [bisphenol A inhibits the reaction [Thyroxine inhibits the reaction [NCOR2 protein binds to and results in decreased activity of THRB protein]]]	22227104
C006780	bisphenol A	SRC inhibits the reaction [bisphenol A inhibits the reaction [Triiodothyronine inhibits the reaction [NCOR2 protein binds to and results in decreased activity of THRB protein]]]	22227104
C006780	bisphenol A	bisphenol A promotes the reaction [NCOR2 protein binds to AR protein]	28645579
C006780	bisphenol A	bisphenol A affects the expression of NCOR2 mRNA	21786754
C006780	bisphenol A	bisphenol A affects the expression of NCOR2 mRNA	25181051
C006780	bisphenol A	bisphenol A affects the expression of NCOR2 protein	21513798
C006780	bisphenol A	[bisphenol A co-treated with Estradiol] results in decreased expression of NCOR2 mRNA	26496021
C006780	bisphenol A	bisphenol A results in increased expression of NCOR2 protein	18653720
C006780	bisphenol A	bisphenol A results in increased methylation of NCOR2 gene	28505145
C006780	bisphenol A	bisphenol A inhibits the reaction [Thyroxine inhibits the reaction [NCOR2 protein binds to and results in decreased activity of THRB protein]]	22227104
C000611646	bisphenol F	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of NCOR2 mRNA	28628672
C018475	butyraldehyde	butyraldehyde results in decreased expression of NCOR2 mRNA	26079696
D020148	Butyric Acid	Butyric Acid results in increased expression of NCOR2 mRNA	23524101
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of NCOR2 mRNA	21297351
D002117	Calcitriol	Calcitriol inhibits the reaction [NCOR2 protein binds to CYP24A1 promoter]	21917910
D002117	Calcitriol	Calcitriol inhibits the reaction [VDR protein binds to NCOR2 protein]	21917910; 22466564;
D002117	Calcitriol	Calcitriol promotes the reaction [NCOR2 protein binds to CYP24A1 mRNA]	20371703
D002117	Calcitriol	Calcitriol promotes the reaction [NCOR2 protein binds to CYP7A1 mRNA]	20371703
D002117	Calcitriol	Calcitriol promotes the reaction [NCOR2 protein binds to CYP7A1 promoter]	19106115
D002117	Calcitriol	NCOR2 protein inhibits the reaction [Calcitriol promotes the reaction [VDR protein binds to HNF4A protein]]	20371703
D002117	Calcitriol	NCOR2 protein inhibits the reaction [[Calcitriol results in increased activity of [VDR protein co-treated with RXRA protein]] which results in increased expression of CYP24A1 mRNA]	20371703
D002117	Calcitriol	NCOR2 protein promotes the reaction [[Calcitriol results in increased activity of [VDR protein co-treated with RXRA protein]] inhibits the reaction [PPARGC1A protein results in increased expression of CYP7A1 mRNA]]	20371703
D002117	Calcitriol	U 0126 inhibits the reaction [Calcitriol promotes the reaction [NCOR2 protein binds to CYP24A1 mRNA]]	20371703
D002117	Calcitriol	U 0126 inhibits the reaction [Calcitriol promotes the reaction [NCOR2 protein binds to CYP7A1 mRNA]]	20371703
D002166	Camptothecin	Camptothecin inhibits the reaction [NCOR2 protein binds to NR1I2 protein]	29356861
D002186	Cannabinoids	[Cannabinoids results in increased abundance of 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid] which affects the methylation of NCOR2 gene	30521419
D002509	Cephaloridine	Cephaloridine results in decreased expression of NCOR2 mRNA	18500788
D002762	Cholecalciferol	Cholecalciferol affects the expression of NCOR2 mRNA	21843606
D002945	Cisplatin	Cisplatin results in decreased expression of NCOR2 mRNA	27392435
C017160	cypermethrin	cypermethrin promotes the reaction [AR protein binds to NCOR2 protein]	23831764
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 NCOR2 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 F] results in decreased expression of NCOR2 mRNA	28628672
D016264	Dextran Sulfate	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in increased expression of NCOR2 mRNA	29950665
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of NCOR2 mRNA	21266533
D003993	Dibutyl Phthalate	Dibutyl Phthalate promotes the reaction [THRB protein binds to NCOR2 protein]	21544203
D003993	Dibutyl Phthalate	Triiodothyronine inhibits the reaction [Dibutyl Phthalate promotes the reaction [THRB protein binds to NCOR2 protein]]	21544203
C000944	dicrotophos	dicrotophos results in increased expression of NCOR2 mRNA	28302478
D013196	Dihydrotestosterone	Dihydrotestosterone inhibits the reaction [NCOR2 protein binds to KLK3 promoter]	16648561
D013196	Dihydrotestosterone	methylselenic acid inhibits the reaction [Dihydrotestosterone inhibits the reaction [NCOR2 protein binds to KLK3 promoter]]	16648561
D013196	Dihydrotestosterone	NCOR2 protein inhibits the reaction [Dihydrotestosterone binds to and results in increased activity of AR protein]	17804755
C024629	dimethyl phthalate	dimethyl phthalate affects the expression of NCOR2 mRNA	26924002
C516138	dorsomorphin	[NOG protein co-treated with methylmercuric chloride 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 NCOR2 mRNA	27188386
D013759	Dronabinol	Dronabinol affects the methylation of NCOR2 gene	26044905
D004726	Endosulfan	Endosulfan results in increased expression of NCOR2 protein	25486513
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of NCOR2 mRNA	30165855
D004958	Estradiol	Estradiol promotes the reaction [NCOR2 protein binds to TFF1 promoter]	19698761
D004958	Estradiol	Estradiol results in decreased expression of NCOR2 mRNA	19432593
D004958	Estradiol	Estradiol results in increased expression of NCOR2 mRNA	20406620; 23019147;
D004958	Estradiol	Tamoxifen inhibits the reaction [Estradiol results in increased expression of NCOR2 mRNA]	20406620
D004958	Estradiol	U 0126 promotes the reaction [Tamoxifen inhibits the reaction [Estradiol results in increased expression of NCOR2 mRNA]]	20406620
D004958	Estradiol	Estradiol affects the expression of NCOR2 mRNA	15598610
D004958	Estradiol	[bisphenol A co-treated with Estradiol] results in decreased expression of NCOR2 mRNA	26496021
D000431	Ethanol	Ethanol affects the expression of and affects the splicing of NCOR2 mRNA	30319688
D000431	Ethanol	Ethanol affects the expression of NCOR2 mRNA	30319688
D000431	Ethanol	Ethanol results in decreased expression of NCOR2 mRNA	29018328
D000431	Ethanol	Ethanol results in increased expression of NCOR2 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of NCOR2 mRNA	17555576
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of NCOR2 mRNA	17351261
C000611514	ethyl (5-(diethylglycyl)-10,11-dihydro-5H-dibenzo(b,f)azepin-3-yl)carbamate	ethyl (5-(diethylglycyl)-10,11-dihydro-5H-dibenzo(b,f)azepin-3-yl)carbamate inhibits the reaction [NCOR2 protein binds to NR1I2 protein]	28289823
C000611514	ethyl (5-(diethylglycyl)-10,11-dihydro-5H-dibenzo(b,f)azepin-3-yl)carbamate	ethyl (5-(diethylglycyl)-10,11-dihydro-5H-dibenzo(b,f)azepin-3-yl)carbamate promotes the reaction [NCOR2 protein binds to NR1I3 protein]	28289823
C082360	fipronil	fipronil results in decreased expression of NCOR2 mRNA	23962444
D000077267	Fulvestrant	Fulvestrant inhibits the reaction [[TNF protein co-treated with Resveratrol] promotes the reaction [NCOR2 protein binds to IL6 promoter]]	24771768
C010974	glyphosate	glyphosate results in increased expression of NCOR2 mRNA	26302742
C000593030	GSK-J4	GSK-J4 results in increased expression of NCOR2 mRNA	29301935
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 NCOR2 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 F] results in decreased expression of NCOR2 mRNA	28628672
D007654	Ketoconazole	Ketoconazole inhibits the reaction [NCOR2 protein binds to NR1I2 protein]	29356861
D007654	Ketoconazole	Ketoconazole inhibits the reaction [NR1I2 protein binds to NCOR2 protein]	12072427
C063302	KN 62	KN 62 inhibits the reaction [[Bicuculline co-treated with 4-Aminopyridine] affects the localization of NCOR2 protein]	15773917
C008261	lead acetate	lead acetate affects the expression of NCOR2 mRNA	21147602
D000077339	Leflunomide	Leflunomide results in increased expression of NCOR2 mRNA	28988120
D008095	Lithocholic Acid	Lithocholic Acid inhibits the reaction [NCOR2 protein binds to CYP24A1 promoter]	21917910
D008095	Lithocholic Acid	Lithocholic Acid inhibits the reaction [VDR protein binds to NCOR2 protein]	21917910; 22466564;
D008095	Lithocholic Acid	Lithocholic Acid promotes the reaction [VDR protein binds to NCOR2 protein]	22466564
C502354	lithocholic acid acetate	lithocholic acid acetate promotes the reaction [NCOR2 protein binds to CYP24A1 mRNA]	20371703
C502354	lithocholic acid acetate	lithocholic acid acetate promotes the reaction [NCOR2 protein binds to CYP7A1 mRNA]	20371703
C502354	lithocholic acid acetate	lithocholic acid acetate promotes the reaction [NCOR2 protein binds to CYP7A1 promoter]	19106115
C502354	lithocholic acid acetate	NCOR2 protein inhibits the reaction [lithocholic acid acetate promotes the reaction [VDR protein binds to HNF4A protein]]	20371703
C502354	lithocholic acid acetate	NCOR2 protein inhibits the reaction [[lithocholic acid acetate results in increased activity of [VDR protein co-treated with RXRA protein]] which results in increased expression of CYP24A1 mRNA]	20371703
C502354	lithocholic acid acetate	NCOR2 protein promotes the reaction [[lithocholic acid acetate results in increased activity of [VDR protein co-treated with RXRA protein]] inhibits the reaction [PPARGC1A protein results in increased expression of CYP7A1 mRNA]]	20371703
C025340	manganese chloride	[1,1-bis(3'-indolyl)-1-(4-trifluoromethylphenyl)methane binds to and results in increased activity of PPARG protein] inhibits the reaction [[manganese chloride co-treated with TNF protein co-treated with IFNG protein] promotes the reaction [NCOR2 protein binds to NOS2 enhancer]]	18041089
C025340	manganese chloride	[manganese chloride co-treated with TNF protein co-treated with IFNG protein] promotes the reaction [NCOR2 protein binds to NOS2 enhancer]	18041089
D008694	Methamphetamine	Methamphetamine results in increased expression of NCOR2 mRNA	26307267
D008701	Methapyrilene	Methapyrilene affects the methylation of NCOR2 intron	30157460
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of NCOR2 mRNA	23179753; 26272509;
C004925	methylmercuric chloride	[NOG protein co-treated with methylmercuric chloride 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 NCOR2 mRNA	27188386
D008767	Methylmercury Compounds	Methylmercury Compounds results in increased expression of NCOR2 mRNA modified form	24694518
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of NCOR2 mRNA	26011545
D008770	Methylnitrosourea	Methylnitrosourea affects the expression of NCOR2 mRNA	21843606
D008774	Methylphenidate	Methylphenidate results in decreased expression of NCOR2 mRNA	22470460
C008493	methylselenic acid	methylselenic acid inhibits the reaction [Dihydrotestosterone inhibits the reaction [NCOR2 protein binds to KLK3 promoter]]	16648561
D015741	Metribolone	[Metribolone binds to and affects the folding of AR protein] inhibits the reaction [AR protein modified form binds to NCOR2 protein modified form]	28751236
C000622638	MLN7243	MLN7243 results in increased sumoylation of NCOR2 protein	31285264
C028577	monobutyl phthalate	monobutyl phthalate promotes the reaction [THRB protein binds to NCOR2 protein]	21544203
C028577	monobutyl phthalate	Triiodothyronine inhibits the reaction [monobutyl phthalate promotes the reaction [THRB protein binds to NCOR2 protein]]	21544203
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of NCOR2 mRNA	26924002
C044361	M-VAC protocol	NCOR2 protein results in decreased susceptibility to M-VAC protocol	15814643
D019319	Okadaic Acid	Okadaic Acid affects the localization of NCOR2 protein	15773917
C002669	parthenolide	parthenolide affects the localization of NCOR2 protein	21928377
C002669	parthenolide	SC-203048 promotes the reaction [parthenolide affects the localization of NCOR2 protein]	21928377
D010705	Phosgene	Phosgene affects the expression of NCOR2 mRNA	16300373
C045950	propiconazole	propiconazole results in decreased expression of NCOR2 mRNA	21278054
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride inhibits the reaction [NCOR2 protein binds to IGF1 promoter]	17872375
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride inhibits the reaction [NCOR2 protein binds to PTGS2 promoter]	17872375
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride results in decreased expression of NCOR2 mRNA	19432593
D000077185	Resveratrol	Fulvestrant inhibits the reaction [[TNF protein co-treated with Resveratrol] promotes the reaction [NCOR2 protein binds to IL6 promoter]]	24771768
D012293	Rifampin	[NR1I2 protein binds to NCOR2 protein] inhibits the reaction [Rifampin results in increased expression of CYP3A4 mRNA]	12072427
D012293	Rifampin	Rifampin inhibits the reaction [NCOR2 protein binds to and results in decreased activity of NR1I2 protein]	22214767
D012293	Rifampin	Rifampin inhibits the reaction [NCOR2 protein binds to NR1I2 protein]	28289823; 29356861;
D012293	Rifampin	Rifampin inhibits the reaction [NR1I2 protein binds to NCOR2 protein]	25313206
D012293	Rifampin	Rifampin inhibits the reaction [trichostatin A inhibits the reaction [[PIAS1 co-treated with SUMO3] inhibits the reaction [NCOR2 protein promotes the reaction [NR1I2 protein binds to HDAC3 protein]]]]	26883953
D012293	Rifampin	Rifampin promotes the reaction [NR1I2 protein binds to NCOR2 protein]	12072427
C057006	Ro 21-5104	Ro 21-5104 inhibits the reaction [NR1I2 protein binds to NCOR2 protein]	25313206
D012402	Rotenone	Rotenone results in increased expression of NCOR2 mRNA	29955902
C572332	SC-203048	SC-203048 promotes the reaction [parthenolide affects the localization of NCOR2 protein]	21928377
C078903	seocalcitol	seocalcitol affects the expression of NCOR2 mRNA	21843606
C017947	sodium arsenite	sodium arsenite results in increased methylation of NCOR2 gene	24570342
C458525	STO 609	STO 609 inhibits the reaction [[Bicuculline co-treated with 4-Aminopyridine] affects the localization of NCOR2 protein]	15773917
C016766	sulforafan	sulforafan inhibits the reaction [NCOR2 protein binds to NR1I2 protein]	29356861
D000077210	Sunitinib	Sunitinib results in increased expression of NCOR2 mRNA	31533062
C061133	tamibarotene	tamibarotene results in increased expression of NCOR2 mRNA	17229644
D013629	Tamoxifen	BRCA1 protein affects the reaction [Tamoxifen promotes the reaction [ESR1 protein binds to NCOR2 protein]]	18997820
D013629	Tamoxifen	BRCA1 protein affects the reaction [Tamoxifen promotes the reaction [NCOR2 protein binds to CCND1 promoter]]	18997820
D013629	Tamoxifen	NCOR2 protein inhibits the reaction [Tamoxifen results in increased activity of ESR1 protein]	20406620
D013629	Tamoxifen	Tamoxifen inhibits the reaction [ESR1 protein binds to NCOR2 protein]	23665804
D013629	Tamoxifen	Tamoxifen inhibits the reaction [Estradiol results in increased expression of NCOR2 mRNA]	20406620
D013629	Tamoxifen	Tamoxifen promotes the reaction [ESR1 protein binds to NCOR2 protein]	18997820
D013629	Tamoxifen	Tamoxifen promotes the reaction [NCOR2 protein binds to CCND1 promoter]	18997820
D013629	Tamoxifen	Tamoxifen promotes the reaction [NCOR2 protein binds to PGR promoter]	20406620
D013629	Tamoxifen	Tamoxifen promotes the reaction [NCOR2 protein binds to TFF1 promoter]	20406620
D013629	Tamoxifen	Tamoxifen results in decreased expression of NCOR2 mRNA	19432593
D013629	Tamoxifen	U 0126 promotes the reaction [Tamoxifen inhibits the reaction [Estradiol results in increased expression of NCOR2 mRNA]]	20406620
D013629	Tamoxifen	U 0126 promotes the reaction [Tamoxifen promotes the reaction [NCOR2 protein binds to PGR promoter]]	20406620
D013629	Tamoxifen	U 0126 promotes the reaction [Tamoxifen promotes the reaction [NCOR2 protein binds to TFF1 promoter]]	20406620
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in increased expression of NCOR2 mRNA	15336504
D013749	Tetrachlorodibenzodioxin	NCOR2 protein inhibits the reaction [Tetrachlorodibenzodioxin results in increased expression of CYP1A1 mRNA]	12139968
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of NCOR2 mRNA	21807756
D013749	Tetrachlorodibenzodioxin	AHR protein inhibits the reaction [Tetrachlorodibenzodioxin results in decreased expression of NCOR2 mRNA]	15034205
D013749	Tetrachlorodibenzodioxin	NCOR2 protein promotes the reaction [Tetrachlorodibenzodioxin promotes the reaction [AHR protein results in increased expression of CYP1A1 mRNA]]	12139968
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of NCOR2 mRNA	24680724
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to NCOR2 protein]	12139968
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of NCOR2 mRNA	15034205
D013749	Tetrachlorodibenzodioxin	AHR protein alternative form affects the reaction [Tetrachlorodibenzodioxin results in decreased expression of NCOR2 mRNA]	21215274
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of NCOR2 mRNA	21215274
C011126	tetraiodothyroacetic acid	tetraiodothyroacetic acid inhibits the reaction [Thyroxine inhibits the reaction [THRB protein binds to NCOR2 protein]]	22227104
C011126	tetraiodothyroacetic acid	tetraiodothyroacetic acid inhibits the reaction [Triiodothyronine inhibits the reaction [THRB protein binds to NCOR2 protein]]	22227104
D013974	Thyroxine	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [Thyroxine inhibits the reaction [THRB protein binds to NCOR2 protein]]	22227104
D013974	Thyroxine	AG 1879 inhibits the reaction [Thyroxine inhibits the reaction [THRB protein binds to NCOR2 protein]]	22227104
D013974	Thyroxine	bisphenol A inhibits the reaction [Thyroxine inhibits the reaction [THRB protein binds to NCOR2 protein]]	22227104
D013974	Thyroxine	ITGB3 inhibits the reaction [bisphenol A inhibits the reaction [Thyroxine inhibits the reaction [NCOR2 protein binds to and results in decreased activity of THRB protein]]]	22227104
D013974	Thyroxine	SRC inhibits the reaction [bisphenol A inhibits the reaction [Thyroxine inhibits the reaction [NCOR2 protein binds to and results in decreased activity of THRB protein]]]	22227104
D013974	Thyroxine	tetraiodothyroacetic acid inhibits the reaction [Thyroxine inhibits the reaction [THRB protein binds to NCOR2 protein]]	22227104
D013974	Thyroxine	Thyroxine inhibits the reaction [THRB protein binds to NCOR2 protein]	22227104
D013974	Thyroxine	bisphenol A inhibits the reaction [Thyroxine inhibits the reaction [NCOR2 protein binds to and results in decreased activity of THRB protein]]	22227104
D013974	Thyroxine	Thyroxine inhibits the reaction [NCOR2 protein binds to and results in decreased activity of THRB protein]	22227104
C009495	titanium dioxide	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in increased expression of NCOR2 mRNA	29950665
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased methylation of NCOR2 gene	26756918
C012589	trichostatin A	Rifampin inhibits the reaction [trichostatin A inhibits the reaction [[PIAS1 co-treated with SUMO3] inhibits the reaction [NCOR2 protein promotes the reaction [NR1I2 protein binds to HDAC3 protein]]]]	26883953
C012589	trichostatin A	trichostatin A inhibits the reaction [[PIAS1 co-treated with SUMO3] inhibits the reaction [NCOR2 protein promotes the reaction [NR1I2 protein binds to HDAC3 protein]]]	26883953
C012589	trichostatin A	trichostatin A affects the localization of NCOR2 protein	15773917
D014284	Triiodothyronine	Triiodothyronine results in increased expression of NCOR2 mRNA	23306105
D014284	Triiodothyronine	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [Triiodothyronine inhibits the reaction [THRB protein binds to NCOR2 protein]]	22227104
D014284	Triiodothyronine	AG 1879 inhibits the reaction [Triiodothyronine inhibits the reaction [THRB protein binds to NCOR2 protein]]	22227104
D014284	Triiodothyronine	bisphenol A inhibits the reaction [Triiodothyronine inhibits the reaction [THRB protein binds to NCOR2 protein]]	22227104
D014284	Triiodothyronine	ITGB3 inhibits the reaction [bisphenol A inhibits the reaction [Triiodothyronine inhibits the reaction [NCOR2 protein binds to and results in decreased activity of THRB protein]]]	22227104
D014284	Triiodothyronine	SRC inhibits the reaction [bisphenol A inhibits the reaction [Triiodothyronine inhibits the reaction [NCOR2 protein binds to and results in decreased activity of THRB protein]]]	22227104
D014284	Triiodothyronine	tetraiodothyroacetic acid inhibits the reaction [Triiodothyronine inhibits the reaction [THRB protein binds to NCOR2 protein]]	22227104
D014284	Triiodothyronine	Triiodothyronine inhibits the reaction [THRB protein binds to NCOR2 protein]	22227104
D014284	Triiodothyronine	Triiodothyronine inhibits the reaction [Dibutyl Phthalate promotes the reaction [THRB protein binds to NCOR2 protein]]	21544203
D014284	Triiodothyronine	Triiodothyronine inhibits the reaction [monobutyl phthalate promotes the reaction [THRB protein binds to NCOR2 protein]]	21544203
D014284	Triiodothyronine	Triiodothyronine inhibits the reaction [NCOR2 protein binds to and results in decreased activity of THRB protein]	22227104
C005445	triphenyl phosphate	triphenyl phosphate results in increased expression of NCOR2 mRNA	23306105
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of NCOR2 mRNA	23306105
C031324	tris(chloroethyl)phosphate	tris(chloroethyl)phosphate results in increased expression of NCOR2 mRNA	27776230
D000077288	Troglitazone	Troglitazone results in decreased expression of NCOR2 mRNA	28973697
D014414	Tungsten	Tungsten results in decreased expression of NCOR2 mRNA	30912803
C113580	U 0126	U 0126 inhibits the reaction [Calcitriol promotes the reaction [NCOR2 protein binds to CYP24A1 mRNA]]	20371703
C113580	U 0126	U 0126 inhibits the reaction [Calcitriol promotes the reaction [NCOR2 protein binds to CYP7A1 mRNA]]	20371703
C113580	U 0126	U 0126 promotes the reaction [NCOR2 protein binds to ESR1 protein]	20406620
C113580	U 0126	[U 0126 promotes the reaction [NCOR2 protein binds to ESR1 protein]] which results in decreased activity of ESR1 protein	20406620
C113580	U 0126	U 0126 promotes the reaction [Tamoxifen inhibits the reaction [Estradiol results in increased expression of NCOR2 mRNA]]	20406620
C113580	U 0126	U 0126 promotes the reaction [Tamoxifen promotes the reaction [NCOR2 protein binds to PGR promoter]]	20406620
C113580	U 0126	U 0126 promotes the reaction [Tamoxifen promotes the reaction [NCOR2 protein binds to TFF1 promoter]]	20406620
C113580	U 0126	U 0126 results in decreased expression of NCOR2 mRNA	20406620
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of NCOR2 gene	25560391
D014807	Vitamin D	Vitamin D analog inhibits the reaction [NCOR2 protein binds to CYP24A1 promoter]	21917910
D014807	Vitamin D	Vitamin D analog inhibits the reaction [VDR protein binds to NCOR2 protein]	21917910
D014807	Vitamin D	Vitamin D analog promotes the reaction [NCOR2 protein binds to CYP24A1 promoter]	21917910
D014807	Vitamin D	Vitamin D analog promotes the reaction [[NCOR2 protein binds to VDR protein] which binds to CYP24A1 promoter]	21917910
D024483	Vitamin K 3	Vitamin K 3 affects the expression of NCOR2 mRNA	20044591
D000077337	Vorinostat	Vorinostat results in decreased activity of [HDAC3 protein binds to NCOR2 protein]	21548582

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0007	Acetylation
KW-0025	Alternative splicing
KW-0175	Coiled coil
KW-0238	DNA-binding
KW-1017	Isopeptide bond
KW-0488	Methylation
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0678	Repressor
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0832	Ubl conjugation

Interpro

InterPro ID	InterPro Term
IPR009057	Homeobox-like_sf
IPR031557	N-CoR_GPS2_interact
IPR001005	SANT/Myb
IPR017884	SANT_dom

PROSITE

PROSITE ID	PROSITE Term
PS51293	SANT

Pfam

Pfam ID	Pfam Term
PF15784	GPS2_interact
PF00249	Myb_DNA-binding

Gene: NCOR2

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

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