CleftGeneDB-Search

Gene: TET1

Basic information

Tag	Content
Uniprot ID	Q8NFU7; Q5VUP7; Q7Z6B6; Q8TCR1; Q9C0I7;
Entrez ID	80312
Genbank protein ID	CAD28467.3; AAH53905.1; AAM88301.1; BAB21767.1;
Genbank nucleotide ID	NM_030625.2
Ensembl protein ID	ENSP00000362748
Ensembl nucleotide ID	ENSG00000138336
Gene name	Methylcytosine dioxygenase TET1
Gene symbol	TET1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC) and plays a key role in active DNA demethylation. Also mediates subsequent conversion of 5hmC into 5-formylcytosine (5fC), and conversion of 5fC to 5-carboxylcytosine (5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probably constitutes the first step in cytosine demethylation. Methylation at the C5 position of cytosine bases is an epigenetic modification of the mammalian genome which plays an important role in transcriptional regulation. In addition to its role in DNA demethylation, plays a more general role in chromatin regulation. Preferentially binds to CpG-rich sequences at promoters of both transcriptionally active and Polycomb-repressed genes. Involved in the recruitment of the O-GlcNAc transferase OGT to CpG-rich transcription start sites of active genes, thereby promoting histone H2B GlcNAcylation by OGT. Also involved in transcription repression of a subset of genes through recruitment of transcriptional repressors to promoters. Involved in the balance between pluripotency and lineage commitment of cells it plays a role in embryonic stem cells maintenance and inner cell mass cell specification. Plays an important role in the tumorigenicity of glioblastoma cells. TET1-mediated production of 5hmC acts as a recruitment signal for the CHTOP-methylosome complex to selective sites on the chromosome, where it methylates H4R3 and activates the transcription of genes involved in glioblastomagenesis (PubMed:25284789). Binds preferentially to DNA containing cytidine-phosphate-guanosine (CpG) dinucleotides over CpH (H=A, T, and C), hemimethylated-CpG and hemimethylated-hydroxymethyl-CpG (PubMed:29276034).
Sequence	MSRSRHARPS RLVRKEDVNK KKKNSQLRKT TKGANKNVAS VKTLSPGKLK QLIQERDVKK 60 KTEPKPPVPV RSLLTRAGAA RMNLDRTEVL FQNPESLTCN GFTMALRSTS LSRRLSQPPL 120 VVAKSKKVPL SKGLEKQHDC DYKILPALGV KHSENDSVPM QDTQVLPDIE TLIGVQNPSL 180 LKGKSQETTQ FWSQRVEDSK INIPTHSGPA AEILPGPLEG TRCGEGLFSE ETLNDTSGSP 240 KMFAQDTVCA PFPQRATPKV TSQGNPSIQL EELGSRVESL KLSDSYLDPI KSEHDCYPTS 300 SLNKVIPDLN LRNCLALGGS TSPTSVIKFL LAGSKQATLG AKPDHQEAFE ATANQQEVSD 360 TTSFLGQAFG AIPHQWELPG ADPVHGEALG ETPDLPEIPG AIPVQGEVFG TILDQQETLG 420 MSGSVVPDLP VFLPVPPNPI ATFNAPSKWP EPQSTVSYGL AVQGAIQILP LGSGHTPQSS 480 SNSEKNSLPP VMAISNVENE KQVHISFLPA NTQGFPLAPE RGLFHASLGI AQLSQAGPSK 540 SDRGSSQVSV TSTVHVVNTT VVTMPVPMVS TSSSSYTTLL PTLEKKKRKR CGVCEPCQQK 600 TNCGECTYCK NRKNSHQICK KRKCEELKKK PSVVVPLEVI KENKRPQREK KPKVLKADFD 660 NKPVNGPKSE SMDYSRCGHG EEQKLELNPH TVENVTKNED SMTGIEVEKW TQNKKSQLTD 720 HVKGDFSANV PEAEKSKNSE VDKKRTKSPK LFVQTVRNGI KHVHCLPAET NVSFKKFNIE 780 EFGKTLENNS YKFLKDTANH KNAMSSVATD MSCDHLKGRS NVLVFQQPGF NCSSIPHSSH 840 SIINHHASIH NEGDQPKTPE NIPSKEPKDG SPVQPSLLSL MKDRRLTLEQ VVAIEALTQL 900 SEAPSENSSP SKSEKDEESE QRTASLLNSC KAILYTVRKD LQDPNLQGEP PKLNHCPSLE 960 KQSSCNTVVF NGQTTTLSNS HINSATNQAS TKSHEYSKVT NSLSLFIPKS NSSKIDTNKS 1020 IAQGIITLDN CSNDLHQLPP RNNEVEYCNQ LLDSSKKLDS DDLSCQDATH TQIEEDVATQ 1080 LTQLASIIKI NYIKPEDKKV ESTPTSLVTC NVQQKYNQEK GTIQQKPPSS VHNNHGSSLT 1140 KQKNPTQKKT KSTPSRDRRK KKPTVVSYQE NDRQKWEKLS YMYGTICDIW IASKFQNFGQ 1200 FCPHDFPTVF GKISSSTKIW KPLAQTRSIM QPKTVFPPLT QIKLQRYPES AEEKVKVEPL 1260 DSLSLFHLKT ESNGKAFTDK AYNSQVQLTV NANQKAHPLT QPSSPPNQCA NVMAGDDQIR 1320 FQQVVKEQLM HQRLPTLPGI SHETPLPESA LTLRNVNVVC SGGITVVSTK SEEEVCSSSF 1380 GTSEFSTVDS AQKNFNDYAM NFFTNPTKNL VSITKDSELP TCSCLDRVIQ KDKGPYYTHL 1440 GAGPSVAAVR EIMENRYGQK GNAIRIEIVV YTGKEGKSSH GCPIAKWVLR RSSDEEKVLC 1500 LVRQRTGHHC PTAVMVVLIM VWDGIPLPMA DRLYTELTEN LKSYNGHPTD RRCTLNENRT 1560 CTCQGIDPET CGASFSFGCS WSMYFNGCKF GRSPSPRRFR IDPSSPLHEK NLEDNLQSLA 1620 TRLAPIYKQY APVAYQNQVE YENVARECRL GSKEGRPFSG VTACLDFCAH PHRDIHNMNN 1680 GSTVVCTLTR EDNRSLGVIP QDEQLHVLPL YKLSDTDEFG SKEGMEAKIK SGAIEVLAPR 1740 RKKRTCFTQP VPRSGKKRAA MMTEVLAHKI RAVEKKPIPR IKRKNNSTTT NNSKPSSLPT 1800 LGSNTETVQP EVKSETEPHF ILKSSDNTKT YSLMPSAPHP VKEASPGFSW SPKTASATPA 1860 PLKNDATASC GFSERSSTPH CTMPSGRLSG ANAAAADGPG ISQLGEVAPL PTLSAPVMEP 1920 LINSEPSTGV TEPLTPHQPN HQPSFLTSPQ DLASSPMEED EQHSEADEPP SDEPLSDDPL 1980 SPAEEKLPHI DEYWSDSEHI FLDANIGGVA IAPAHGSVLI ECARRELHAT TPVEHPNRNH 2040 PTRLSLVFYQ HKNLNKPQHG FELNKIKFEA KEAKNKKMKA SEQKDQAANE GPEQSSEVNE 2100 LNQIPSHKAL TLTHDNVVTV SPYALTHVAG PYNHWV 2136

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
6ASD

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	TET1	102186373	A0A452E1W7		Capra hircus	Prediction	More>>
1:1 ortholog	TET1	80312	Q8NFU7		Homo sapiens	Prediction	More>>
1:1 ortholog	Tet1		Q3URK3	CPO	Mus musculus	Publication	More>>
1:1 ortholog	TET1	450497	H2Q1Z7		Pan troglodytes	Prediction	More>>
1:1 ortholog	TET1		F1SUI3		Sus scrofa	Prediction	More>>
1:1 ortholog	Tet1		F1LUQ3		Rattus norvegicus	Prediction	More>>
1:1 ortholog	tet1	101883702	F1R3C6		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs750698861	p.Arg3Ter	stop gained	-	NC_000010.11:g.68572345C>T	ExAC,gnomAD
rs763123299	p.Arg3Gln	missense variant	-	NC_000010.11:g.68572346G>A	ExAC,gnomAD
rs763123299	p.Arg3Pro	missense variant	-	NC_000010.11:g.68572346G>C	ExAC,gnomAD
rs1297376295	p.Ser4Thr	missense variant	-	NC_000010.11:g.68572348T>A	TOPMed,gnomAD
rs767244144	p.Ser4Phe	missense variant	-	NC_000010.11:g.68572349C>T	ExAC,TOPMed,gnomAD
rs140156594	p.Arg5Cys	missense variant	-	NC_000010.11:g.68572351C>T	ESP,ExAC,TOPMed,gnomAD
rs777837034	p.Arg5His	missense variant	-	NC_000010.11:g.68572352G>A	ExAC,gnomAD
rs753709385	p.His6Tyr	missense variant	-	NC_000010.11:g.68572354C>T	ExAC,TOPMed,gnomAD
rs757120908	p.Ala7Val	missense variant	-	NC_000010.11:g.68572358C>T	ExAC,gnomAD
rs778536892	p.Arg8Lys	missense variant	-	NC_000010.11:g.68572361G>A	ExAC,gnomAD
rs778536892	p.Arg8Lys	missense variant	-	NC_000010.11:g.68572361G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1397274217	p.Pro9Thr	missense variant	-	NC_000010.11:g.68572363C>A	TOPMed
COSM3985701	p.Leu12Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68572373T>C	NCI-TCGA Cosmic
rs377381575	p.Val13Ala	missense variant	-	NC_000010.11:g.68572376T>C	gnomAD
rs745543859	p.Val13Leu	missense variant	-	NC_000010.11:g.68572375G>C	ExAC,gnomAD
rs745543859	p.Val13Ile	missense variant	-	NC_000010.11:g.68572375G>A	ExAC,gnomAD
rs779722738	p.Lys15Arg	missense variant	-	NC_000010.11:g.68572382A>G	ExAC,gnomAD
rs746452533	p.Glu16Asp	missense variant	-	NC_000010.11:g.68572386A>T	ExAC,gnomAD
rs1432668702	p.Asp17Gly	missense variant	-	NC_000010.11:g.68572388A>G	gnomAD
rs77014514	p.Asn19Lys	missense variant	-	NC_000010.11:g.68572395C>A	ExAC
rs1172120339	p.Lys20Glu	missense variant	-	NC_000010.11:g.68572396A>G	TOPMed
COSM1348704	p.Lys22ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.68572396A>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys23GluPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.68572395_68572396insA	NCI-TCGA
rs371354350	p.Lys23Ile	missense variant	-	NC_000010.11:g.68572406A>T	ESP,TOPMed
rs1365415380	p.Asn24Ser	missense variant	-	NC_000010.11:g.68572409A>G	gnomAD
rs1158014559	p.Gln26Leu	missense variant	-	NC_000010.11:g.68572415A>T	gnomAD
rs773402594	p.Arg28Gln	missense variant	-	NC_000010.11:g.68572421G>A	ExAC,TOPMed,gnomAD
rs773402594	p.Arg28Gln	missense variant	-	NC_000010.11:g.68572421G>A	NCI-TCGA
rs766525413	p.Thr31Ile	missense variant	-	NC_000010.11:g.68572430C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys32Asn	missense variant	-	NC_000010.11:g.68572434G>C	NCI-TCGA
rs1384511917	p.Lys32Arg	missense variant	-	NC_000010.11:g.68572433A>G	gnomAD
NCI-TCGA novel	p.Gly33Ter	stop gained	-	NC_000010.11:g.68572435G>T	NCI-TCGA
NCI-TCGA novel	p.Ala34Asp	missense variant	-	NC_000010.11:g.68572439C>A	NCI-TCGA
NCI-TCGA novel	p.Ala34Pro	missense variant	-	NC_000010.11:g.68572438G>C	NCI-TCGA
rs371024257	p.Ala34Thr	missense variant	-	NC_000010.11:g.68572438G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs759674654	p.Ala34Val	missense variant	-	NC_000010.11:g.68572439C>T	ExAC,TOPMed,gnomAD
rs565181995	p.Asn35Asp	missense variant	-	NC_000010.11:g.68572441A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1209614187	p.Lys36Asn	missense variant	-	NC_000010.11:g.68572446A>C	TOPMed
rs1273080391	p.Lys36Glu	missense variant	-	NC_000010.11:g.68572444A>G	TOPMed
rs1482188643	p.Asn37Tyr	missense variant	-	NC_000010.11:g.68572447A>T	gnomAD
rs1351945968	p.Ala39Val	missense variant	-	NC_000010.11:g.68572454C>T	gnomAD
rs1283019815	p.Ala39Ser	missense variant	-	NC_000010.11:g.68572453G>T	TOPMed
NCI-TCGA novel	p.Ser40Ter	stop gained	-	NC_000010.11:g.68572457C>G	NCI-TCGA
rs1224328336	p.Lys42Asn	missense variant	-	NC_000010.11:g.68572464G>T	gnomAD
rs1266192390	p.Thr43Ser	missense variant	-	NC_000010.11:g.68572466C>G	gnomAD
rs1488290365	p.Ser45Asn	missense variant	-	NC_000010.11:g.68572472G>A	gnomAD
rs1240068217	p.Pro46Ala	missense variant	-	NC_000010.11:g.68572474C>G	gnomAD
rs1183361622	p.Pro46Leu	missense variant	-	NC_000010.11:g.68572475C>T	TOPMed,gnomAD
rs1183361622	p.Pro46Arg	missense variant	-	NC_000010.11:g.68572475C>G	TOPMed,gnomAD
rs757099305	p.Gly47Glu	missense variant	-	NC_000010.11:g.68572478G>A	ExAC,gnomAD
COSM919742	p.Lys48Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68572480A>C	NCI-TCGA Cosmic
rs182153116	p.Gln51Leu	missense variant	-	NC_000010.11:g.68572490A>T	1000Genomes
NCI-TCGA novel	p.Glu55Ter	stop gained	-	NC_000010.11:g.68572501G>T	NCI-TCGA
rs368625091	p.Asp57Glu	missense variant	-	NC_000010.11:g.68572509T>A	ESP,ExAC,TOPMed,gnomAD
COSM685571	p.Val58Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68572510G>T	NCI-TCGA Cosmic
rs114779544	p.Lys59Arg	missense variant	-	NC_000010.11:g.68572514A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr62AsnPheSerTerUnk	frameshift	-	NC_000010.11:g.68572515_68572516insA	NCI-TCGA
COSM4733137	p.Thr62GlnPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.68572516A>-	NCI-TCGA Cosmic
rs757874803	p.Pro64Ser	missense variant	-	NC_000010.11:g.68572528C>T	TOPMed,gnomAD
rs757874803	p.Pro64Thr	missense variant	-	NC_000010.11:g.68572528C>A	TOPMed,gnomAD
rs758126390	p.Lys65Glu	missense variant	-	NC_000010.11:g.68572531A>G	ExAC,gnomAD
rs758126390	p.Lys65Ter	stop gained	-	NC_000010.11:g.68572531A>T	ExAC,gnomAD
rs1456096019	p.Pro66Arg	missense variant	-	NC_000010.11:g.68572535C>G	gnomAD
COSM3439882	p.Pro66Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68572535C>T	NCI-TCGA Cosmic
rs754556136	p.Pro67His	missense variant	-	NC_000010.11:g.68572538C>A	ExAC,gnomAD
rs761167266	p.Pro67Ser	missense variant	-	NC_000010.11:g.68572537C>T	ExAC,TOPMed,gnomAD
rs761167266	p.Pro67Ala	missense variant	-	NC_000010.11:g.68572537C>G	ExAC,TOPMed,gnomAD
rs780528931	p.Val68Met	missense variant	-	NC_000010.11:g.68572540G>A	ExAC,TOPMed,gnomAD
rs748713481	p.Val68Ala	missense variant	-	NC_000010.11:g.68572541T>C	ExAC,gnomAD
rs770143538	p.Val70Ile	missense variant	-	NC_000010.11:g.68572546G>A	ExAC,gnomAD
rs773573298	p.Arg71Gly	missense variant	-	NC_000010.11:g.68572549A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu73Ile	missense variant	-	NC_000010.11:g.68572555C>A	NCI-TCGA
rs771275404	p.Leu73Arg	missense variant	-	NC_000010.11:g.68572556T>G	ExAC,TOPMed,gnomAD
rs138684329	p.Leu73Phe	missense variant	-	NC_000010.11:g.68572555C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr75Arg	missense variant	-	NC_000010.11:g.68572562C>G	NCI-TCGA
rs774608784	p.Thr75Ile	missense variant	-	NC_000010.11:g.68572562C>T	ExAC,TOPMed,gnomAD
rs767663146	p.Arg76Lys	missense variant	-	NC_000010.11:g.68572565G>A	ExAC,gnomAD
rs759719530	p.Arg76Gly	missense variant	-	NC_000010.11:g.68572564A>G	ExAC,gnomAD
rs1484377336	p.Gly78Glu	missense variant	-	NC_000010.11:g.68572571G>A	TOPMed
rs761821309	p.Arg81His	missense variant	-	NC_000010.11:g.68572580G>A	NCI-TCGA,NCI-TCGA Cosmic
rs761821309	p.Arg81His	missense variant	-	NC_000010.11:g.68572580G>A	ExAC,TOPMed,gnomAD
rs761821309	p.Arg81Leu	missense variant	-	NC_000010.11:g.68572580G>T	ExAC,TOPMed,gnomAD
rs761821309	p.Arg81Pro	missense variant	-	NC_000010.11:g.68572580G>C	ExAC,TOPMed,gnomAD
rs775380660	p.Arg81Cys	missense variant	-	NC_000010.11:g.68572579C>T	ExAC,TOPMed,gnomAD
rs1225759885	p.Met82Ile	missense variant	-	NC_000010.11:g.68572584G>C	TOPMed
rs750381036	p.Met82Val	missense variant	-	NC_000010.11:g.68572582A>G	ExAC,gnomAD
rs368770710	p.Asp85Asn	missense variant	-	NC_000010.11:g.68572591G>A	ESP,ExAC,TOPMed,gnomAD
rs766246075	p.Arg86Met	missense variant	-	NC_000010.11:g.68572595G>T	NCI-TCGA
rs766246075	p.Arg86Met	missense variant	-	NC_000010.11:g.68572595G>T	ExAC,gnomAD
rs766246075	p.Arg86Lys	missense variant	-	NC_000010.11:g.68572595G>A	ExAC,gnomAD
rs140677396	p.Thr87Ser	missense variant	-	NC_000010.11:g.68572598C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754538807	p.Leu90Val	missense variant	-	NC_000010.11:g.68572606C>G	ExAC,gnomAD
rs1450775662	p.Leu90Arg	missense variant	-	NC_000010.11:g.68572607T>G	gnomAD
NCI-TCGA novel	p.Gln92Glu	missense variant	-	NC_000010.11:g.68572612C>G	NCI-TCGA
NCI-TCGA novel	p.Asn93Ser	missense variant	-	NC_000010.11:g.68572616A>G	NCI-TCGA
NCI-TCGA novel	p.Asn93Lys	missense variant	-	NC_000010.11:g.68572617C>G	NCI-TCGA
rs1303982196	p.Pro94Ala	missense variant	-	NC_000010.11:g.68572618C>G	gnomAD
rs1357417547	p.Glu95Gly	missense variant	-	NC_000010.11:g.68572622A>G	TOPMed
COSM4944986	p.Glu95Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.68572621G>T	NCI-TCGA Cosmic
rs780768837	p.Thr98Ile	missense variant	-	NC_000010.11:g.68572631C>T	ExAC,gnomAD
rs1448657807	p.Asn100His	missense variant	-	NC_000010.11:g.68572636A>C	TOPMed
rs1318888341	p.Asn100Lys	missense variant	-	NC_000010.11:g.68572638T>G	gnomAD
rs755648837	p.Asn100Ser	missense variant	-	NC_000010.11:g.68572637A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly101Val	missense variant	-	NC_000010.11:g.68572640G>T	NCI-TCGA
rs1156842659	p.Phe102Cys	missense variant	-	NC_000010.11:g.68572643T>G	TOPMed
rs149899928	p.Met104Val	missense variant	-	NC_000010.11:g.68572648A>G	ESP,gnomAD
rs200477577	p.Ala105Val	missense variant	-	NC_000010.11:g.68572652C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs749777455	p.Leu106Val	missense variant	-	NC_000010.11:g.68572654C>G	ExAC,TOPMed,gnomAD
rs1419371452	p.Arg107Gln	missense variant	-	NC_000010.11:g.68572658G>A	NCI-TCGA Cosmic
rs771320434	p.Arg107Ter	stop gained	-	NC_000010.11:g.68572657C>T	ExAC,gnomAD
rs1419371452	p.Arg107Gln	missense variant	-	NC_000010.11:g.68572658G>A	TOPMed
rs771320434	p.Arg107Ter	stop gained	-	NC_000010.11:g.68572657C>T	NCI-TCGA,NCI-TCGA Cosmic
rs372546848	p.Ser108Arg	missense variant	-	NC_000010.11:g.68572662C>A	ESP,ExAC,TOPMed,gnomAD
rs779205050	p.Ser108Gly	missense variant	-	NC_000010.11:g.68572660A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu111Ile	missense variant	-	NC_000010.11:g.68572669C>A	NCI-TCGA
rs1477305146	p.Ser112Thr	missense variant	-	NC_000010.11:g.68572673G>C	gnomAD
rs772124361	p.Arg114Pro	missense variant	-	NC_000010.11:g.68572679G>C	ExAC,TOPMed,gnomAD
rs772124361	p.Arg114Gln	missense variant	-	NC_000010.11:g.68572679G>A	ExAC,TOPMed,gnomAD
rs1426634332	p.Leu115Phe	missense variant	-	NC_000010.11:g.68572681C>T	gnomAD
COSM3439883	p.Ser116Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68572685C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro118Leu	missense variant	-	NC_000010.11:g.68572691C>T	NCI-TCGA
rs768767331	p.Pro118Thr	missense variant	-	NC_000010.11:g.68572690C>A	ExAC,gnomAD
rs1464804442	p.Pro119Leu	missense variant	-	NC_000010.11:g.68572694C>T	gnomAD
rs568924164	p.Pro119Thr	missense variant	-	NC_000010.11:g.68572693C>A	TOPMed,gnomAD
rs568924164	p.Pro119Ser	missense variant	-	NC_000010.11:g.68572693C>T	TOPMed,gnomAD
rs569120485	p.Leu120Arg	missense variant	-	NC_000010.11:g.68572697T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1356016602	p.Val122Ala	missense variant	-	NC_000010.11:g.68572703T>C	NCI-TCGA
rs751344073	p.Val122Ile	missense variant	-	NC_000010.11:g.68572702G>A	ExAC,TOPMed,gnomAD
rs751344073	p.Val122Ile	missense variant	-	NC_000010.11:g.68572702G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1356016602	p.Val122Ala	missense variant	-	NC_000010.11:g.68572703T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ala123Gly	missense variant	-	NC_000010.11:g.68572706C>G	NCI-TCGA
rs1359973500	p.Lys124Arg	missense variant	-	NC_000010.11:g.68572709A>G	TOPMed
rs1310382095	p.Lys126Arg	missense variant	-	NC_000010.11:g.68572715A>G	gnomAD
rs759234005	p.Lys126Gln	missense variant	-	NC_000010.11:g.68572714A>C	ExAC,TOPMed,gnomAD
rs767144503	p.Lys127Asn	missense variant	-	NC_000010.11:g.68572719G>T	ExAC,gnomAD
rs142008363	p.Val128Ile	missense variant	-	NC_000010.11:g.68572720G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142008363	p.Val128Leu	missense variant	-	NC_000010.11:g.68572720G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142008363	p.Val128Phe	missense variant	-	NC_000010.11:g.68572720G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1487867489	p.Pro129Leu	missense variant	-	NC_000010.11:g.68572724C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser131Tyr	missense variant	-	NC_000010.11:g.68572730C>A	NCI-TCGA
NCI-TCGA novel	p.Ser131Cys	missense variant	-	NC_000010.11:g.68572730C>G	NCI-TCGA
rs551824419	p.Lys132Glu	missense variant	-	NC_000010.11:g.68572732A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1478029429	p.Gly133Val	missense variant	-	NC_000010.11:g.68572736G>T	gnomAD
rs1427355395	p.Gly133Ser	missense variant	-	NC_000010.11:g.68572735G>A	TOPMed
NCI-TCGA novel	p.Glu135Ter	stop gained	-	NC_000010.11:g.68572741G>T	NCI-TCGA
rs779260183	p.Glu135Lys	missense variant	-	NC_000010.11:g.68572741G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln137AlaPheSerTerUnk	frameshift	-	NC_000010.11:g.68572741_68572742insA	NCI-TCGA
rs1425019250	p.His138Arg	missense variant	-	NC_000010.11:g.68572751A>G	TOPMed,gnomAD
rs149031299	p.Asp139Asn	missense variant	-	NC_000010.11:g.68572753G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138665678	p.Cys140Tyr	missense variant	-	NC_000010.11:g.68572757G>A	ESP,ExAC,TOPMed,gnomAD
rs143052198	p.Cys140Arg	missense variant	-	NC_000010.11:g.68572756T>C	ESP,TOPMed,gnomAD
rs780197856	p.Asp141Val	missense variant	-	NC_000010.11:g.68572760A>T	ExAC,gnomAD
rs1437212521	p.Tyr142Cys	missense variant	-	NC_000010.11:g.68572763A>G	gnomAD
rs1212018278	p.Lys143Glu	missense variant	-	NC_000010.11:g.68572765A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ile144Leu	missense variant	-	NC_000010.11:g.68572768A>C	NCI-TCGA
rs747232190	p.Ile144Arg	missense variant	-	NC_000010.11:g.68572769T>G	ExAC,TOPMed,gnomAD
rs747232190	p.Ile144Thr	missense variant	-	NC_000010.11:g.68572769T>C	ExAC,TOPMed,gnomAD
rs768888866	p.Ile144Met	missense variant	-	NC_000010.11:g.68572770A>G	ExAC,gnomAD
COSM4930994	p.Ile144Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68572768A>G	NCI-TCGA Cosmic
rs141395629	p.Leu145Phe	missense variant	-	NC_000010.11:g.68572771C>T	ESP,ExAC,TOPMed,gnomAD
rs141395629	p.Leu145Ile	missense variant	-	NC_000010.11:g.68572771C>A	ESP,ExAC,TOPMed,gnomAD
rs762999090	p.Leu145Pro	missense variant	-	NC_000010.11:g.68572772T>C	ExAC,gnomAD
rs774343833	p.Pro146Ser	missense variant	-	NC_000010.11:g.68572774C>T	ExAC,gnomAD
rs1291504914	p.Pro146Leu	missense variant	-	NC_000010.11:g.68572775C>T	gnomAD
rs774343833	p.Pro146Ala	missense variant	-	NC_000010.11:g.68572774C>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly149Arg	missense variant	-	NC_000010.11:g.68572783G>A	NCI-TCGA
COSM4925893	p.Lys151Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68572790A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.His152Asp	missense variant	-	NC_000010.11:g.68572792C>G	NCI-TCGA
rs1216240596	p.His152Arg	missense variant	-	NC_000010.11:g.68572793A>G	TOPMed
NCI-TCGA novel	p.Ser153Ter	stop gained	-	NC_000010.11:g.68572796C>G	NCI-TCGA
rs1365923011	p.Glu154Gly	missense variant	-	NC_000010.11:g.68572799A>G	TOPMed
rs185830524	p.Ser157Leu	missense variant	-	NC_000010.11:g.68572808C>T	NCI-TCGA,NCI-TCGA Cosmic
rs185830524	p.Ser157Leu	missense variant	-	NC_000010.11:g.68572808C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs753283699	p.Val158Leu	missense variant	-	NC_000010.11:g.68572810G>C	ExAC,TOPMed,gnomAD
rs753283699	p.Val158Phe	missense variant	-	NC_000010.11:g.68572810G>T	ExAC,TOPMed,gnomAD
rs1381552311	p.Pro159Leu	missense variant	-	NC_000010.11:g.68572814C>T	gnomAD
rs1293710221	p.Met160Val	missense variant	-	NC_000010.11:g.68572816A>G	TOPMed
rs1157205183	p.Met160Ile	missense variant	-	NC_000010.11:g.68572818G>T	gnomAD
rs963563529	p.Met160Lys	missense variant	-	NC_000010.11:g.68572817T>A	TOPMed,gnomAD
rs10823229	p.Asp162Gly	missense variant	-	NC_000010.11:g.68572823A>G	UniProt,dbSNP
VAR_027734	p.Asp162Gly	missense variant	-	NC_000010.11:g.68572823A>G	UniProt
rs10823229	p.Asp162Gly	missense variant	-	NC_000010.11:g.68572823A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765798398	p.Thr163Ser	missense variant	-	NC_000010.11:g.68572825A>T	ExAC,TOPMed,gnomAD
rs765798398	p.Thr163Ala	missense variant	-	NC_000010.11:g.68572825A>G	ExAC,TOPMed,gnomAD
rs1449177074	p.Gln164Lys	missense variant	-	NC_000010.11:g.68572828C>A	TOPMed,gnomAD
rs758739848	p.Gln164His	missense variant	-	NC_000010.11:g.68572830A>C	ExAC,gnomAD
rs1449177074	p.Gln164Glu	missense variant	-	NC_000010.11:g.68572828C>G	TOPMed,gnomAD
rs1394939435	p.Val165Phe	missense variant	-	NC_000010.11:g.68572831G>T	TOPMed
COSM4393027	p.Val165Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68572831G>C	NCI-TCGA Cosmic
rs115711488	p.Leu166Phe	missense variant	-	NC_000010.11:g.68572834C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1237626100	p.Pro167Arg	missense variant	-	NC_000010.11:g.68572838C>G	gnomAD
COSM4852762	p.Asp168His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68572840G>C	NCI-TCGA Cosmic
rs755192249	p.Ile169Thr	missense variant	-	NC_000010.11:g.68572844T>C	ExAC,TOPMed,gnomAD
rs747218316	p.Ile169Val	missense variant	-	NC_000010.11:g.68572843A>G	ExAC,gnomAD
rs781424040	p.Glu170Asp	missense variant	-	NC_000010.11:g.68572848G>T	ExAC,TOPMed,gnomAD
rs748302509	p.Leu172Pro	missense variant	-	NC_000010.11:g.68572853T>C	ExAC,gnomAD
rs1176805515	p.Leu172Val	missense variant	-	NC_000010.11:g.68572852C>G	TOPMed
rs774201705	p.Ile173Thr	missense variant	-	NC_000010.11:g.68572856T>C	ExAC,TOPMed,gnomAD
COSM3397219	p.Gln176Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68572865A>G	NCI-TCGA Cosmic
rs1205874505	p.Asn177Ser	missense variant	-	NC_000010.11:g.68572868A>G	TOPMed
COSM919748	p.Asn177Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68572868A>C	NCI-TCGA Cosmic
rs556646745	p.Pro178Thr	missense variant	-	NC_000010.11:g.68572870C>A	1000Genomes,ExAC,gnomAD
rs1457729740	p.Pro178Leu	missense variant	-	NC_000010.11:g.68572871C>T	gnomAD
rs1457729740	p.Pro178Leu	missense variant	-	NC_000010.11:g.68572871C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser179Phe	missense variant	-	NC_000010.11:g.68572874C>T	NCI-TCGA
rs771790766	p.Ser179Pro	missense variant	-	NC_000010.11:g.68572873T>C	ExAC,gnomAD
rs775310665	p.Leu180Val	missense variant	-	NC_000010.11:g.68572876T>G	ExAC,TOPMed,gnomAD
rs1473362793	p.Gly183Ser	missense variant	-	NC_000010.11:g.68572885G>A	gnomAD
rs1279459176	p.Ser185Gly	missense variant	-	NC_000010.11:g.68572891A>G	TOPMed
COSM3807532	p.Ser185Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68572892G>A	NCI-TCGA Cosmic
rs1422648486	p.Gln186Glu	missense variant	-	NC_000010.11:g.68572894C>G	gnomAD
rs1232027922	p.Glu187Ala	missense variant	-	NC_000010.11:g.68572898A>C	TOPMed
NCI-TCGA novel	p.Thr188Ile	missense variant	-	NC_000010.11:g.68572901C>T	NCI-TCGA
rs760336927	p.Thr188Ala	missense variant	-	NC_000010.11:g.68572900A>G	ExAC,TOPMed,gnomAD
rs1467197351	p.Thr189Ala	missense variant	-	NC_000010.11:g.68572903A>G	gnomAD
rs12773594	p.Ser193Thr	missense variant	-	NC_000010.11:g.68572915T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs12773594	p.Ser193Thr	missense variant	-	NC_000010.11:g.68572915T>A	UniProt,dbSNP
VAR_027735	p.Ser193Thr	missense variant	-	NC_000010.11:g.68572915T>A	UniProt
rs1399401605	p.Ser193Phe	missense variant	-	NC_000010.11:g.68572916C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Arg195LysPheSerTerUnk	frameshift	-	NC_000010.11:g.68572918_68572919insA	NCI-TCGA
rs761373070	p.Val196Ile	missense variant	-	NC_000010.11:g.68572924G>A	ExAC,gnomAD
COSM685570	p.Ser199Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68572934C>A	NCI-TCGA Cosmic
rs769657894	p.Lys200Glu	missense variant	-	NC_000010.11:g.68572936A>G	ExAC,TOPMed,gnomAD
rs138243324	p.Lys200Met	missense variant	-	NC_000010.11:g.68572937A>T	ESP,ExAC,gnomAD
rs766665330	p.Ile201Phe	missense variant	-	NC_000010.11:g.68572939A>T	ExAC,gnomAD
rs766665330	p.Ile201Val	missense variant	-	NC_000010.11:g.68572939A>G	ExAC,gnomAD
rs1319571773	p.Ile203Val	missense variant	-	NC_000010.11:g.68572945A>G	gnomAD
rs755388350	p.Pro204Ser	missense variant	-	NC_000010.11:g.68572948C>T	ExAC,gnomAD
rs781620810	p.Pro204Leu	missense variant	-	NC_000010.11:g.68572949C>T	ExAC,TOPMed,gnomAD
rs781620810	p.Pro204Arg	missense variant	-	NC_000010.11:g.68572949C>G	ExAC,TOPMed,gnomAD
rs1315574318	p.Thr205Ile	missense variant	-	NC_000010.11:g.68572952C>T	TOPMed,gnomAD
NCI-TCGA novel	p.His206Tyr	missense variant	-	NC_000010.11:g.68572954C>T	NCI-TCGA
rs748355482	p.Ser207Gly	missense variant	-	NC_000010.11:g.68572957A>G	ExAC,TOPMed,gnomAD
rs756299342	p.Gly208Ser	missense variant	-	NC_000010.11:g.68572960G>A	ExAC,gnomAD
rs1443284160	p.Gly208Asp	missense variant	-	NC_000010.11:g.68572961G>A	gnomAD
rs777865630	p.Ala211Thr	missense variant	-	NC_000010.11:g.68572969G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu212Asp	missense variant	-	NC_000010.11:g.68572974G>T	NCI-TCGA
NCI-TCGA novel	p.Ile213Thr	missense variant	-	NC_000010.11:g.68572976T>C	NCI-TCGA
rs1478942565	p.Leu214Phe	missense variant	-	NC_000010.11:g.68572978C>T	gnomAD
rs1329994043	p.Pro217Ser	missense variant	-	NC_000010.11:g.68572987C>T	gnomAD
NCI-TCGA novel	p.Glu219Asp	missense variant	-	NC_000010.11:g.68572995A>T	NCI-TCGA
NCI-TCGA novel	p.Glu219Lys	missense variant	-	NC_000010.11:g.68572993G>A	NCI-TCGA
NCI-TCGA novel	p.Arg222Gly	missense variant	-	NC_000010.11:g.68573002C>G	NCI-TCGA
rs775155506	p.Arg222Cys	missense variant	-	NC_000010.11:g.68573002C>T	ExAC,TOPMed,gnomAD
rs749194238	p.Arg222Pro	missense variant	-	NC_000010.11:g.68573003G>C	ExAC,gnomAD
rs749194238	p.Arg222His	missense variant	-	NC_000010.11:g.68573003G>A	ExAC,gnomAD
rs749194238	p.Arg222His	missense variant	-	NC_000010.11:g.68573003G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1402829056	p.Gly224Asp	missense variant	-	NC_000010.11:g.68573009G>A	gnomAD
NCI-TCGA novel	p.Gly226Ter	stop gained	-	NC_000010.11:g.68573014G>T	NCI-TCGA
rs776316695	p.Gly226Arg	missense variant	-	NC_000010.11:g.68573014G>A	ExAC,TOPMed,gnomAD
rs1221101210	p.Phe228Leu	missense variant	-	NC_000010.11:g.68573020T>C	gnomAD
rs772720772	p.Ser229Phe	missense variant	-	NC_000010.11:g.68573024C>T	ExAC,gnomAD
rs763372468	p.Glu230Asp	missense variant	-	NC_000010.11:g.68573028A>C	ExAC,gnomAD
rs1234783951	p.Glu231Lys	missense variant	-	NC_000010.11:g.68573029G>A	gnomAD
rs545216411	p.Thr232Ile	missense variant	-	NC_000010.11:g.68573033C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs545216411	p.Thr232Lys	missense variant	-	NC_000010.11:g.68573033C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1196495991	p.Ser237Asn	missense variant	-	NC_000010.11:g.68573048G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Pro240Gln	missense variant	-	NC_000010.11:g.68573057C>A	NCI-TCGA
rs767959452	p.Pro240Ser	missense variant	-	NC_000010.11:g.68573056C>T	ExAC,gnomAD
rs752995764	p.Lys241Glu	missense variant	-	NC_000010.11:g.68573059A>G	ExAC,gnomAD
rs756352357	p.Met242Thr	missense variant	-	NC_000010.11:g.68573063T>C	ExAC,gnomAD
rs777732424	p.Phe243Ile	missense variant	-	NC_000010.11:g.68573065T>A	ExAC,gnomAD
rs1426743764	p.Ala244Thr	missense variant	-	NC_000010.11:g.68573068G>A	gnomAD
NCI-TCGA novel	p.Gln245Ter	stop gained	-	NC_000010.11:g.68573071C>T	NCI-TCGA
NCI-TCGA novel	p.Gln245Glu	missense variant	-	NC_000010.11:g.68573071C>G	NCI-TCGA
rs1289784186	p.Gln245Lys	missense variant	-	NC_000010.11:g.68573071C>A	TOPMed
rs1477676976	p.Asp246Asn	missense variant	-	NC_000010.11:g.68573074G>A	gnomAD
rs780100195	p.Val248Met	missense variant	-	NC_000010.11:g.68573080G>A	ExAC,gnomAD
rs746929558	p.Val248Ala	missense variant	-	NC_000010.11:g.68573081T>C	ExAC,TOPMed,gnomAD
rs768482004	p.Ala250Ser	missense variant	-	NC_000010.11:g.68573086G>T	ExAC,TOPMed,gnomAD
COSM3439885	p.Phe252Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573092T>G	NCI-TCGA Cosmic
COSM3439886	p.Pro253Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573095C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg255Lys	missense variant	-	NC_000010.11:g.68573102G>A	NCI-TCGA
rs12221107	p.Ala256Glu	missense variant	-	NC_000010.11:g.68573105C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs12221107	p.Ala256Val	missense variant	-	NC_000010.11:g.68573105C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs12221107	p.Ala256Val	missense variant	-	NC_000010.11:g.68573105C>T	UniProt,dbSNP
VAR_027736	p.Ala256Val	missense variant	-	NC_000010.11:g.68573105C>T	UniProt
rs140030732	p.Thr257Ile	missense variant	-	NC_000010.11:g.68573108C>T	ESP,ExAC,TOPMed,gnomAD
rs1288806952	p.Pro258Arg	missense variant	-	NC_000010.11:g.68573111C>G	TOPMed
rs1387953048	p.Val260Ile	missense variant	-	NC_000010.11:g.68573116G>A	TOPMed,gnomAD
COSM6044573	p.Val260LeuPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.68573108C>-	NCI-TCGA Cosmic
rs1244406416	p.Thr261Ala	missense variant	-	NC_000010.11:g.68573119A>G	gnomAD
rs1478813200	p.Thr261Asn	missense variant	-	NC_000010.11:g.68573120C>A	TOPMed,gnomAD
rs772734225	p.Ser262Phe	missense variant	-	NC_000010.11:g.68573123C>T	ExAC,TOPMed,gnomAD
rs1234170961	p.Gln263Arg	missense variant	-	NC_000010.11:g.68573126A>G	NCI-TCGA Cosmic
rs904734024	p.Gln263His	missense variant	-	NC_000010.11:g.68573127A>T	gnomAD
rs1234170961	p.Gln263Arg	missense variant	-	NC_000010.11:g.68573126A>G	gnomAD
rs1004780942	p.Gly264Glu	missense variant	-	NC_000010.11:g.68573129G>A	TOPMed,gnomAD
rs1241334779	p.Asn265Ile	missense variant	-	NC_000010.11:g.68573132A>T	gnomAD
rs1465467281	p.Pro266His	missense variant	-	NC_000010.11:g.68573135C>A	TOPMed,gnomAD
rs143870952	p.Pro266Ala	missense variant	-	NC_000010.11:g.68573134C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143870952	p.Pro266Ser	missense variant	-	NC_000010.11:g.68573134C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1465467281	p.Pro266Arg	missense variant	-	NC_000010.11:g.68573135C>G	TOPMed,gnomAD
rs146402620	p.Ser267Ile	missense variant	-	NC_000010.11:g.68573138G>T	ESP,ExAC,TOPMed,gnomAD
rs760076374	p.Ile268Val	missense variant	-	NC_000010.11:g.68573140A>G	ExAC
NCI-TCGA novel	p.Gln269Glu	missense variant	-	NC_000010.11:g.68573143C>G	NCI-TCGA
rs1023378732	p.Gln269His	missense variant	-	NC_000010.11:g.68573145G>C	TOPMed
NCI-TCGA novel	p.Gly274Ser	missense variant	-	NC_000010.11:g.68573158G>A	NCI-TCGA
rs768012438	p.Gly274Arg	missense variant	-	NC_000010.11:g.68573158G>C	ExAC,gnomAD
rs768012438	p.Gly274Cys	missense variant	-	NC_000010.11:g.68573158G>T	ExAC,gnomAD
rs760815606	p.Ser275Leu	missense variant	-	NC_000010.11:g.68573162C>T	ExAC,gnomAD
rs753994987	p.Arg276Gln	missense variant	-	NC_000010.11:g.68573165G>A	ExAC,TOPMed,gnomAD
COSM215430	p.Arg276Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.68573164C>T	NCI-TCGA Cosmic
rs1382097600	p.Val277Ile	missense variant	-	NC_000010.11:g.68573167G>A	gnomAD
rs144745587	p.Val277Ala	missense variant	-	NC_000010.11:g.68573168T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser279Tyr	missense variant	-	NC_000010.11:g.68573174C>A	NCI-TCGA
COSM919750	p.Lys281Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573181G>C	NCI-TCGA Cosmic
COSM4015287	p.Lys281Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573181G>T	NCI-TCGA Cosmic
COSM919751	p.Ser285Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573192C>A	NCI-TCGA Cosmic
rs751530578	p.Pro289Ser	missense variant	-	NC_000010.11:g.68573203C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile290Val	missense variant	-	NC_000010.11:g.68573206A>G	NCI-TCGA
rs1459093444	p.Cys296Trp	missense variant	-	NC_000010.11:g.68573226C>G	gnomAD
rs1403109458	p.Pro298Arg	missense variant	-	NC_000010.11:g.68573231C>G	gnomAD
rs754861030	p.Thr299Ile	missense variant	-	NC_000010.11:g.68573234C>T	ExAC,TOPMed,gnomAD
rs780969535	p.Ser300Tyr	missense variant	-	NC_000010.11:g.68573237C>A	ExAC,TOPMed,gnomAD
rs748002909	p.Ser301Arg	missense variant	-	NC_000010.11:g.68573241T>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu302Val	missense variant	-	NC_000010.11:g.68573242C>G	NCI-TCGA
rs1324390461	p.Leu302Pro	missense variant	-	NC_000010.11:g.68573243T>C	gnomAD
rs769461023	p.Asn303Ile	missense variant	-	NC_000010.11:g.68573246A>T	ExAC,TOPMed,gnomAD
rs777528593	p.Lys304Glu	missense variant	-	NC_000010.11:g.68573248A>G	ExAC,TOPMed,gnomAD
rs1306780234	p.Asn313Ser	missense variant	-	NC_000010.11:g.68573276A>G	gnomAD
NCI-TCGA novel	p.Leu315Trp	missense variant	-	NC_000010.11:g.68573282T>G	NCI-TCGA
rs748859596	p.Ala316Thr	missense variant	-	NC_000010.11:g.68573284G>A	ExAC,gnomAD
rs770503544	p.Leu317Val	missense variant	-	NC_000010.11:g.68573287C>G	ExAC,TOPMed,gnomAD
rs770503544	p.Leu317Ile	missense variant	-	NC_000010.11:g.68573287C>A	ExAC,TOPMed,gnomAD
rs142945297	p.Gly318Ser	missense variant	-	NC_000010.11:g.68573290G>A	ESP,ExAC,TOPMed,gnomAD
rs142945297	p.Gly318Cys	missense variant	-	NC_000010.11:g.68573290G>T	ESP,ExAC,TOPMed,gnomAD
rs150957212	p.Thr321Ala	missense variant	-	NC_000010.11:g.68573299A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761163037	p.Thr321Met	missense variant	-	NC_000010.11:g.68573300C>T	ExAC,TOPMed,gnomAD
rs377638565	p.Ser322Cys	missense variant	-	NC_000010.11:g.68573303C>G	ESP,ExAC,TOPMed,gnomAD
rs377638565	p.Ser322Tyr	missense variant	-	NC_000010.11:g.68573303C>A	NCI-TCGA
rs377638565	p.Ser322Tyr	missense variant	-	NC_000010.11:g.68573303C>A	ESP,ExAC,TOPMed,gnomAD
rs1372613736	p.Pro323Leu	missense variant	-	NC_000010.11:g.68573306C>T	TOPMed
rs201973364	p.Pro323Thr	missense variant	-	NC_000010.11:g.68573305C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser325Phe	missense variant	-	NC_000010.11:g.68573312C>T	NCI-TCGA
rs750445862	p.Ser325Pro	missense variant	-	NC_000010.11:g.68573311T>C	ExAC,TOPMed,gnomAD
rs1426715333	p.Val326Ala	missense variant	-	NC_000010.11:g.68573315T>C	TOPMed
COSM1474717	p.Val326Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573314G>A	NCI-TCGA Cosmic
COSM3807534	p.Lys328Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573322A>C	NCI-TCGA Cosmic
rs201095472	p.Phe329Cys	missense variant	-	NC_000010.11:g.68573324T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu330Pro	missense variant	-	NC_000010.11:g.68573327T>C	NCI-TCGA
rs752552795	p.Gly333Val	missense variant	-	NC_000010.11:g.68573336G>T	ExAC,TOPMed,gnomAD
rs752552795	p.Gly333Ala	missense variant	-	NC_000010.11:g.68573336G>C	ExAC,TOPMed,gnomAD
rs755974529	p.Ala337Glu	missense variant	-	NC_000010.11:g.68573348C>A	ExAC,TOPMed,gnomAD
rs755974529	p.Ala337Val	missense variant	-	NC_000010.11:g.68573348C>T	ExAC,TOPMed,gnomAD
rs748989369	p.Thr338Ile	missense variant	-	NC_000010.11:g.68573351C>T	ExAC,gnomAD
rs199737304	p.Leu339Arg	missense variant	-	NC_000010.11:g.68573354T>G	1000Genomes,ExAC,gnomAD
rs1279814967	p.Gly340Ser	missense variant	-	NC_000010.11:g.68573356G>A	gnomAD
rs1398228984	p.Gly340Asp	missense variant	-	NC_000010.11:g.68573357G>A	gnomAD
rs140752046	p.Ala341Val	missense variant	-	NC_000010.11:g.68573360C>T	ESP,ExAC,TOPMed,gnomAD
rs1355084188	p.Pro343Thr	missense variant	-	NC_000010.11:g.68573365C>A	gnomAD
rs71475256	p.Asp344Glu	missense variant	-	NC_000010.11:g.68573370T>A	ESP,ExAC,TOPMed,gnomAD
rs776190993	p.His345Tyr	missense variant	-	NC_000010.11:g.68573371C>T	ExAC,gnomAD
COSM919752	p.His345Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573371C>A	NCI-TCGA Cosmic
rs370086972	p.Ala348Gly	missense variant	-	NC_000010.11:g.68573381C>G	ESP,ExAC,TOPMed,gnomAD
rs370086972	p.Ala348Val	missense variant	-	NC_000010.11:g.68573381C>T	ESP,ExAC,TOPMed,gnomAD
rs147762508	p.Phe349Leu	missense variant	-	NC_000010.11:g.68573385C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767493807	p.Glu350Lys	missense variant	-	NC_000010.11:g.68573386G>A	ExAC,TOPMed,gnomAD
rs767493807	p.Glu350Gln	missense variant	-	NC_000010.11:g.68573386G>C	ExAC,TOPMed,gnomAD
rs767493807	p.Glu350Lys	missense variant	-	NC_000010.11:g.68573386G>A	NCI-TCGA
NCI-TCGA novel	p.Ala351Thr	missense variant	-	NC_000010.11:g.68573389G>A	NCI-TCGA
NCI-TCGA novel	p.Ala351Ser	missense variant	-	NC_000010.11:g.68573389G>T	NCI-TCGA
rs1222540638	p.Ala351Pro	missense variant	-	NC_000010.11:g.68573389G>C	TOPMed,gnomAD
rs1182248370	p.Ala351Asp	missense variant	-	NC_000010.11:g.68573390C>A	gnomAD
rs763067699	p.Ala353Ser	missense variant	-	NC_000010.11:g.68573395G>T	ExAC,gnomAD
rs528002456	p.Ala353Val	missense variant	-	NC_000010.11:g.68573396C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs528002456	p.Ala353Gly	missense variant	-	NC_000010.11:g.68573396C>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln355Glu	missense variant	-	NC_000010.11:g.68573401C>G	NCI-TCGA
rs1195451893	p.Gln355His	missense variant	-	NC_000010.11:g.68573403A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gln356His	missense variant	-	NC_000010.11:g.68573406G>T	NCI-TCGA
rs889413336	p.Gln356Arg	missense variant	-	NC_000010.11:g.68573405A>G	TOPMed,gnomAD
rs889413336	p.Gln356Pro	missense variant	-	NC_000010.11:g.68573405A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Glu357LysPheSerTerUnk	frameshift	-	NC_000010.11:g.68573406G>-	NCI-TCGA
NCI-TCGA novel	p.Glu357Asp	missense variant	-	NC_000010.11:g.68573409A>C	NCI-TCGA
NCI-TCGA novel	p.Val358Ile	missense variant	-	NC_000010.11:g.68573410G>A	NCI-TCGA
rs755954369	p.Asp360Tyr	missense variant	-	NC_000010.11:g.68573416G>T	ExAC,TOPMed,gnomAD
rs763959254	p.Thr361Ile	missense variant	-	NC_000010.11:g.68573420C>T	ExAC,TOPMed,gnomAD
rs753507163	p.Thr362Pro	missense variant	-	NC_000010.11:g.68573422A>C	ExAC,gnomAD
rs374406450	p.Thr362Ile	missense variant	-	NC_000010.11:g.68573423C>T	ESP,ExAC,TOPMed,gnomAD
rs1275914514	p.Gly366Val	missense variant	-	NC_000010.11:g.68573435G>T	TOPMed
rs1275914514	p.Gly366Ala	missense variant	-	NC_000010.11:g.68573435G>C	TOPMed
rs778770592	p.Ala368Pro	missense variant	-	NC_000010.11:g.68573440G>C	ExAC,TOPMed,gnomAD
rs778770592	p.Ala368Ser	missense variant	-	NC_000010.11:g.68573440G>T	ExAC,TOPMed,gnomAD
COSM919753	p.Ala368Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573441C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala371Val	missense variant	-	NC_000010.11:g.68573450C>T	NCI-TCGA
NCI-TCGA novel	p.Ile372AsnPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.68573452_68573453insACTGGCCGGGCACGCTGGT	NCI-TCGA
NCI-TCGA novel	p.His374Tyr	missense variant	-	NC_000010.11:g.68573458C>T	NCI-TCGA
NCI-TCGA novel	p.His374ProPheSerTerUnk	frameshift	-	NC_000010.11:g.68573457_68573458insC	NCI-TCGA
NCI-TCGA novel	p.Gln375Ter	stop gained	-	NC_000010.11:g.68573461C>T	NCI-TCGA
rs1413140977	p.Gln375Glu	missense variant	-	NC_000010.11:g.68573461C>G	gnomAD
rs1341205271	p.Trp376Arg	missense variant	-	NC_000010.11:g.68573464T>C	gnomAD
COSM3439889	p.Pro379Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573473C>T	NCI-TCGA Cosmic
rs1214065925	p.Gly380Asp	missense variant	-	NC_000010.11:g.68573477G>A	TOPMed,gnomAD
rs1214065925	p.Gly380Ala	missense variant	-	NC_000010.11:g.68573477G>C	TOPMed,gnomAD
rs1411681380	p.Pro383Ala	missense variant	-	NC_000010.11:g.68573485C>G	TOPMed
rs745495089	p.His385Tyr	missense variant	-	NC_000010.11:g.68573491C>T	ExAC
rs758025897	p.His385Arg	missense variant	-	NC_000010.11:g.68573492A>G	ExAC,gnomAD
rs1205185024	p.Gly390Val	missense variant	-	NC_000010.11:g.68573507G>T	TOPMed
rs1205185024	p.Gly390Asp	missense variant	-	NC_000010.11:g.68573507G>A	TOPMed
rs534301234	p.Thr392Ile	missense variant	-	NC_000010.11:g.68573513C>T	ExAC,gnomAD
rs534301234	p.Thr392Asn	missense variant	-	NC_000010.11:g.68573513C>A	ExAC,gnomAD
rs747575204	p.Pro393Arg	missense variant	-	NC_000010.11:g.68573516C>G	ExAC,gnomAD
rs367919197	p.Asp394Gly	missense variant	-	NC_000010.11:g.68573519A>G	ESP,ExAC,TOPMed
rs770120735	p.Leu395Pro	missense variant	-	NC_000010.11:g.68573522T>C	ExAC,TOPMed,gnomAD
rs748518458	p.Leu395Val	missense variant	-	NC_000010.11:g.68573521C>G	ExAC,gnomAD
rs1474758181	p.Pro396Ser	missense variant	-	NC_000010.11:g.68573524C>T	gnomAD
rs773462703	p.Glu397Ala	missense variant	-	NC_000010.11:g.68573528A>C	ExAC,gnomAD
rs1417939173	p.Pro399Leu	missense variant	-	NC_000010.11:g.68573534C>T	TOPMed,gnomAD
rs1478235065	p.Gly400Val	missense variant	-	NC_000010.11:g.68573537G>T	TOPMed
rs763119180	p.Ala401Pro	missense variant	-	NC_000010.11:g.68573539G>C	ExAC,gnomAD
rs999040718	p.Ala401Val	missense variant	-	NC_000010.11:g.68573540C>T	TOPMed
rs763119180	p.Ala401Thr	missense variant	-	NC_000010.11:g.68573539G>A	ExAC,gnomAD
rs1476606636	p.Val404Ala	missense variant	-	NC_000010.11:g.68573549T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Val408Asp	missense variant	-	NC_000010.11:g.68573561T>A	NCI-TCGA
rs753805259	p.Gly410Asp	missense variant	-	NC_000010.11:g.68573567G>A	ExAC,gnomAD
rs1287223271	p.Thr411Ile	missense variant	-	NC_000010.11:g.68573570C>T	gnomAD
rs1251962550	p.Ile412Val	missense variant	-	NC_000010.11:g.68573572A>G	TOPMed
rs1035210502	p.Asp414Glu	missense variant	-	NC_000010.11:g.68573580C>A	TOPMed
NCI-TCGA novel	p.Gln415Ter	stop gained	-	NC_000010.11:g.68573581C>T	NCI-TCGA
NCI-TCGA novel	p.Glu417Ter	stop gained	-	NC_000010.11:g.68573587G>T	NCI-TCGA
NCI-TCGA novel	p.Glu417Asp	missense variant	-	NC_000010.11:g.68573589A>C	NCI-TCGA
rs1220116067	p.Gly420Ser	missense variant	-	NC_000010.11:g.68573596G>A	TOPMed
rs765096454	p.Met421Val	missense variant	-	NC_000010.11:g.68573599A>G	ExAC,TOPMed,gnomAD
rs1277959611	p.Ser422Arg	missense variant	-	NC_000010.11:g.68573602A>C	TOPMed
rs1230503010	p.Gly423Arg	missense variant	-	NC_000010.11:g.68573605G>A	TOPMed
rs372145516	p.Ser424Asn	missense variant	-	NC_000010.11:g.68573609G>A	ESP,ExAC,TOPMed,gnomAD
rs368121652	p.Val426Ala	missense variant	-	NC_000010.11:g.68573615T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro430HisPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.68573626_68573627insA	NCI-TCGA
NCI-TCGA novel	p.Pro430Ser	missense variant	-	NC_000010.11:g.68573626C>T	NCI-TCGA
NCI-TCGA novel	p.Pro430His	missense variant	-	NC_000010.11:g.68573627C>A	NCI-TCGA
rs781598952	p.Leu433Phe	missense variant	-	NC_000010.11:g.68573635C>T	ExAC,gnomAD
rs748621988	p.Pro434Leu	missense variant	-	NC_000010.11:g.68573639C>T	ExAC,TOPMed,gnomAD
rs73276466	p.Val435Ile	missense variant	-	NC_000010.11:g.68573641G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs73276466	p.Val435Phe	missense variant	-	NC_000010.11:g.68573641G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1452899496	p.Pro436Leu	missense variant	-	NC_000010.11:g.68573645C>T	gnomAD
COSM3723840	p.Pro437Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573648C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro439Gln	missense variant	-	NC_000010.11:g.68573654C>A	NCI-TCGA
rs778059839	p.Ile440Val	missense variant	-	NC_000010.11:g.68573656A>G	ExAC,TOPMed,gnomAD
rs374116756	p.Ile440Thr	missense variant	-	NC_000010.11:g.68573657T>C	ESP,ExAC,gnomAD
rs778059839	p.Ile440Phe	missense variant	-	NC_000010.11:g.68573656A>T	ExAC,TOPMed,gnomAD
rs759596302	p.Phe443Leu	missense variant	-	NC_000010.11:g.68573665T>C	ExAC,TOPMed,gnomAD
rs772173706	p.Ala445Ser	missense variant	-	NC_000010.11:g.68573671G>T	ExAC,gnomAD
COSM3415203	p.Ala445Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573672C>T	NCI-TCGA Cosmic
rs1186687250	p.Pro446Thr	missense variant	-	NC_000010.11:g.68573674C>A	TOPMed
rs1325065132	p.Ser447Phe	missense variant	-	NC_000010.11:g.68573678C>T	gnomAD
rs765147521	p.Pro450Ala	missense variant	-	NC_000010.11:g.68573686C>G	ExAC,gnomAD
rs750186974	p.Pro452His	missense variant	-	NC_000010.11:g.68573693C>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln453Lys	missense variant	-	NC_000010.11:g.68573695C>A	NCI-TCGA
rs766013288	p.Thr455Ala	missense variant	-	NC_000010.11:g.68573701A>G	ExAC,TOPMed,gnomAD
COSM3439890	p.Thr455Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573702C>T	NCI-TCGA Cosmic
rs765813789	p.Val456Leu	missense variant	-	NC_000010.11:g.68573704G>C	ExAC,gnomAD
rs754487252	p.Val456Asp	missense variant	-	NC_000010.11:g.68573705T>A	ExAC,gnomAD
rs765813789	p.Val456Ile	missense variant	-	NC_000010.11:g.68573704G>A	ExAC,gnomAD
rs756552545	p.Ala461Val	missense variant	-	NC_000010.11:g.68573720C>T	ExAC,gnomAD
rs1446748776	p.Gly464Asp	missense variant	-	NC_000010.11:g.68573729G>A	TOPMed
NCI-TCGA novel	p.Ala465Pro	missense variant	-	NC_000010.11:g.68573731G>C	NCI-TCGA
NCI-TCGA novel	p.Ala465Asp	missense variant	-	NC_000010.11:g.68573732C>A	NCI-TCGA
rs778111044	p.Ile466Thr	missense variant	-	NC_000010.11:g.68573735T>C	ExAC,gnomAD
rs1233792351	p.Ile466Met	missense variant	-	NC_000010.11:g.68573736A>G	gnomAD
NCI-TCGA novel	p.Gln467His	missense variant	-	NC_000010.11:g.68573739G>T	NCI-TCGA
COSM919754	p.Gln467Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573738A>C	NCI-TCGA Cosmic
rs1398311978	p.Gly472Val	missense variant	-	NC_000010.11:g.68573753G>T	TOPMed,gnomAD
rs779057764	p.Thr476Ser	missense variant	-	NC_000010.11:g.68573765C>G	ExAC,TOPMed,gnomAD
rs1461980547	p.Pro477Ser	missense variant	-	NC_000010.11:g.68573767C>T	gnomAD
rs141856939	p.Pro477Leu	missense variant	-	NC_000010.11:g.68573768C>T	1000Genomes,ExAC,gnomAD
rs772079002	p.Gln478His	missense variant	-	NC_000010.11:g.68573772A>C	ExAC,TOPMed,gnomAD
rs775663404	p.Ser480Leu	missense variant	-	NC_000010.11:g.68573777C>T	ExAC,gnomAD
COSM1348707	p.Ser481Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573779T>C	NCI-TCGA Cosmic
rs570151139	p.Asn482His	missense variant	-	NC_000010.11:g.68573782A>C	1000Genomes,ExAC,gnomAD
rs961419225	p.Asn482Ser	missense variant	-	NC_000010.11:g.68573783A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ser483Ter	stop gained	-	NC_000010.11:g.68573786C>G	NCI-TCGA
rs538486517	p.Glu484Asp	missense variant	-	NC_000010.11:g.68573790G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs538486517	p.Glu484Asp	missense variant	-	NC_000010.11:g.68573790G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs538486517	p.Glu484Asp	missense variant	-	NC_000010.11:g.68573790G>T	NCI-TCGA,NCI-TCGA Cosmic
rs1285528312	p.Lys485Thr	missense variant	-	NC_000010.11:g.68573792A>C	gnomAD
rs150689919	p.Ser487Leu	missense variant	-	NC_000010.11:g.68573798C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu488Val	missense variant	-	NC_000010.11:g.68573800T>G	NCI-TCGA
NCI-TCGA novel	p.Pro489His	missense variant	-	NC_000010.11:g.68573804C>A	NCI-TCGA
rs762889327	p.Pro489Thr	missense variant	-	NC_000010.11:g.68573803C>A	ExAC,gnomAD
rs766166427	p.Pro490Leu	missense variant	-	NC_000010.11:g.68573807C>T	ExAC,gnomAD
rs933927897	p.Ala493Pro	missense variant	-	NC_000010.11:g.68573815G>C	gnomAD
rs1437545818	p.Ile494Met	missense variant	-	NC_000010.11:g.68573820A>G	gnomAD
NCI-TCGA novel	p.Asn496Thr	missense variant	-	NC_000010.11:g.68573825A>C	NCI-TCGA
NCI-TCGA novel	p.Glu500Lys	missense variant	-	NC_000010.11:g.68573836G>A	NCI-TCGA
NCI-TCGA novel	p.Gln502Lys	missense variant	-	NC_000010.11:g.68573842C>A	NCI-TCGA
rs752133010	p.Val503Phe	missense variant	-	NC_000010.11:g.68573845G>T	ExAC,gnomAD
NCI-TCGA novel	p.His504IlePheSerTerUnk	frameshift	-	NC_000010.11:g.68573846T>-	NCI-TCGA
rs755613476	p.Leu508Arg	missense variant	-	NC_000010.11:g.68573861T>G	ExAC,gnomAD
rs764639945	p.Pro509Ser	missense variant	-	NC_000010.11:g.68573863C>T	ExAC,TOPMed,gnomAD
rs754324920	p.Pro509Leu	missense variant	-	NC_000010.11:g.68573864C>T	ExAC,TOPMed,gnomAD
rs754324920	p.Pro509Leu	missense variant	-	NC_000010.11:g.68573864C>T	NCI-TCGA
rs746103772	p.Thr512Ala	missense variant	-	NC_000010.11:g.68573872A>G	ExAC,TOPMed,gnomAD
rs1413768012	p.Gln513Arg	missense variant	-	NC_000010.11:g.68573876A>G	gnomAD
rs189764010	p.Gln513Glu	missense variant	-	NC_000010.11:g.68573875C>G	1000Genomes,ExAC,gnomAD
rs780287443	p.Gly514Arg	missense variant	-	NC_000010.11:g.68573878G>C	ExAC,gnomAD
rs1421498642	p.Gly514Val	missense variant	-	NC_000010.11:g.68573879G>T	TOPMed
COSM685569	p.Leu517Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573889A>C	NCI-TCGA Cosmic
rs1227529542	p.Ala518Gly	missense variant	-	NC_000010.11:g.68573891C>G	gnomAD
rs1227529542	p.Ala518Val	missense variant	-	NC_000010.11:g.68573891C>T	gnomAD
COSM3439891	p.Pro519Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573893C>T	NCI-TCGA Cosmic
rs1284631673	p.Phe524Leu	missense variant	-	NC_000010.11:g.68573910C>G	TOPMed,gnomAD
NCI-TCGA novel	p.His525Tyr	missense variant	-	NC_000010.11:g.68573911C>T	NCI-TCGA
rs372011235	p.His525Arg	missense variant	-	NC_000010.11:g.68573912A>G	ESP,ExAC,TOPMed,gnomAD
rs749209014	p.Ala526Val	missense variant	-	NC_000010.11:g.68573915C>T	ExAC
rs773322363	p.Ala526Thr	missense variant	-	NC_000010.11:g.68573914G>A	ExAC,TOPMed,gnomAD
COSM427792	p.Ser527Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573918C>T	NCI-TCGA Cosmic
rs770652473	p.Leu528Gln	missense variant	-	NC_000010.11:g.68573921T>A	ExAC,gnomAD
rs770652473	p.Leu528Arg	missense variant	-	NC_000010.11:g.68573921T>G	ExAC,gnomAD
rs911134937	p.Gly529Arg	missense variant	-	NC_000010.11:g.68573923G>C	gnomAD
rs911134937	p.Gly529Ser	missense variant	-	NC_000010.11:g.68573923G>A	gnomAD
rs774136143	p.Ile530Val	missense variant	-	NC_000010.11:g.68573926A>G	ExAC,gnomAD
rs767220335	p.Ala531Val	missense variant	-	NC_000010.11:g.68573930C>T	ExAC,gnomAD
rs199940992	p.Ala531Ser	missense variant	-	NC_000010.11:g.68573929G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs199940992	p.Ala531Thr	missense variant	-	NC_000010.11:g.68573929G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs946395830	p.Leu533His	missense variant	-	NC_000010.11:g.68573936T>A	TOPMed
rs775107195	p.Leu533Ile	missense variant	-	NC_000010.11:g.68573935C>A	ExAC
rs1261992946	p.Gln535Glu	missense variant	-	NC_000010.11:g.68573941C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ala536Asp	missense variant	-	NC_000010.11:g.68573945C>A	NCI-TCGA
rs1372389212	p.Ala536Val	missense variant	-	NC_000010.11:g.68573945C>T	gnomAD
rs1474368532	p.Gly537Val	missense variant	-	NC_000010.11:g.68573948G>T	gnomAD
rs760230649	p.Ser539Arg	missense variant	-	NC_000010.11:g.68573955C>G	ExAC,TOPMed
NCI-TCGA novel	p.Lys540Glu	missense variant	-	NC_000010.11:g.68573956A>G	NCI-TCGA
rs1174296600	p.Gly544Arg	missense variant	-	NC_000010.11:g.68573968G>C	gnomAD
COSM919756	p.Gly544Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573968G>T	NCI-TCGA Cosmic
rs763567146	p.Ser546Phe	missense variant	-	NC_000010.11:g.68573975C>T	ExAC,TOPMed,gnomAD
rs763567146	p.Ser546Phe	missense variant	-	NC_000010.11:g.68573975C>T	NCI-TCGA
rs754378171	p.Gln547Glu	missense variant	-	NC_000010.11:g.68573977C>G	ExAC,gnomAD
rs765533957	p.Thr551Ser	missense variant	-	NC_000010.11:g.68573990C>G	ExAC
rs1382253814	p.His555Arg	missense variant	-	NC_000010.11:g.68574002A>G	gnomAD
rs1056215784	p.His555Asn	missense variant	-	NC_000010.11:g.68574001C>A	TOPMed
rs758687103	p.Val557Phe	missense variant	-	NC_000010.11:g.68574007G>T	ExAC,gnomAD
rs780483452	p.Thr559Ser	missense variant	-	NC_000010.11:g.68574013A>T	ExAC,gnomAD
COSM919757	p.Thr559Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68574013A>G	NCI-TCGA Cosmic
rs542995452	p.Val561Ala	missense variant	-	NC_000010.11:g.68574020T>C	1000Genomes,ExAC,gnomAD
rs1278398214	p.Val561Met	missense variant	-	NC_000010.11:g.68574019G>A	gnomAD
NCI-TCGA novel	p.Thr563Asn	missense variant	-	NC_000010.11:g.68574026C>A	NCI-TCGA
rs1367261062	p.Thr563Ile	missense variant	-	NC_000010.11:g.68574026C>T	TOPMed,gnomAD
rs755138758	p.Met564Val	missense variant	-	NC_000010.11:g.68574028A>G	ExAC,gnomAD
rs781372537	p.Met564Ile	missense variant	-	NC_000010.11:g.68574030G>T	ExAC,gnomAD
rs781372537	p.Met564Ile	missense variant	-	NC_000010.11:g.68574030G>A	ExAC,gnomAD
rs770830999	p.Met568Lys	missense variant	-	NC_000010.11:g.68574041T>A	ExAC,TOPMed,gnomAD
rs1164298952	p.Met568Val	missense variant	-	NC_000010.11:g.68574040A>G	gnomAD
rs770830999	p.Met568Thr	missense variant	-	NC_000010.11:g.68574041T>C	ExAC,TOPMed,gnomAD
rs1200912007	p.Val569Ile	missense variant	-	NC_000010.11:g.68574043G>A	TOPMed,gnomAD
rs1453513681	p.Ser570Thr	missense variant	-	NC_000010.11:g.68574047G>C	gnomAD
rs80114546	p.Ser570Gly	missense variant	-	NC_000010.11:g.68574046A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1381741063	p.Thr571Asn	missense variant	-	NC_000010.11:g.68574050C>A	gnomAD
rs1171553609	p.Thr571Ala	missense variant	-	NC_000010.11:g.68574049A>G	gnomAD
rs745731412	p.Ser572Ala	missense variant	-	NC_000010.11:g.68574052T>G	ExAC,TOPMed,gnomAD
rs775166524	p.Tyr576Cys	missense variant	-	NC_000010.11:g.68574065A>G	ExAC,gnomAD
rs760983285	p.Thr578Ile	missense variant	-	NC_000010.11:g.68574071C>T	gnomAD
rs1252809815	p.Leu580Pro	missense variant	-	NC_000010.11:g.68574077T>C	TOPMed
rs760283652	p.Pro581Leu	missense variant	-	NC_000010.11:g.68574080C>T	NCI-TCGA
rs760283652	p.Pro581Gln	missense variant	-	NC_000010.11:g.68574080C>A	ExAC,gnomAD
rs760283652	p.Pro581Leu	missense variant	-	NC_000010.11:g.68574080C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu583Phe	missense variant	-	NC_000010.11:g.68574087G>T	NCI-TCGA
rs776152780	p.Leu583Phe	missense variant	-	NC_000010.11:g.68574087G>C	ExAC,gnomAD
rs762232511	p.Lys585Asn	missense variant	-	NC_000010.11:g.68574093G>C	ExAC,gnomAD
rs762232511	p.Lys585Asn	missense variant	-	NC_000010.11:g.68574093G>T	ExAC,gnomAD
rs765840106	p.Lys586Arg	missense variant	-	NC_000010.11:g.68574095A>G	ExAC,TOPMed,gnomAD
rs1191715443	p.Arg588Lys	missense variant	-	NC_000010.11:g.68574101G>A	gnomAD
COSM919758	p.Arg588Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68574101G>T	NCI-TCGA Cosmic
rs528233201	p.Arg590Gln	missense variant	-	NC_000010.11:g.68574107G>A	gnomAD
rs750883311	p.Arg590Ter	stop gained	-	NC_000010.11:g.68574106C>T	ExAC,gnomAD
NCI-TCGA novel	p.Val593Ile	missense variant	-	NC_000010.11:g.68574115G>A	NCI-TCGA
rs1361717255	p.Asn602Ser	missense variant	-	NC_000010.11:g.68574143A>G	gnomAD
NCI-TCGA novel	p.Thr607Ser	missense variant	-	NC_000010.11:g.68574158C>G	NCI-TCGA
rs751851682	p.Thr607Ile	missense variant	-	NC_000010.11:g.68574158C>T	ExAC,gnomAD
COSM4918440	p.Thr607Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68574157A>G	NCI-TCGA Cosmic
rs752884644	p.Lys610Glu	missense variant	-	NC_000010.11:g.68574166A>G	ExAC,TOPMed,gnomAD
COSM919760	p.Arg612Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68574173G>T	NCI-TCGA Cosmic
COSM258162	p.Lys613Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68574177G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser615Ile	missense variant	-	NC_000010.11:g.68574182G>T	NCI-TCGA
rs1375977443	p.Ser615Arg	missense variant	-	NC_000010.11:g.68574183C>G	gnomAD
rs1306490843	p.His616Pro	missense variant	-	NC_000010.11:g.68574185A>C	gnomAD
rs1392340185	p.His616Asp	missense variant	-	NC_000010.11:g.68574184C>G	gnomAD
NCI-TCGA novel	p.Gln617Ter	stop gained	-	NC_000010.11:g.68574187C>T	NCI-TCGA
NCI-TCGA novel	p.Ile618Asn	missense variant	-	NC_000010.11:g.68574191T>A	NCI-TCGA
rs778956029	p.Ile618Met	missense variant	-	NC_000010.11:g.68574192C>G	ExAC,TOPMed,gnomAD
rs1334330273	p.Lys629Arg	missense variant	-	NC_000010.11:g.68574224A>G	gnomAD
rs779779567	p.Pro631Thr	missense variant	-	NC_000010.11:g.68574229C>A	ExAC,TOPMed,gnomAD
rs1480801672	p.Pro631Arg	missense variant	-	NC_000010.11:g.68574230C>G	TOPMed,gnomAD
rs1480801672	p.Pro631Leu	missense variant	-	NC_000010.11:g.68574230C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser632LeuPheSerTerUnk	frameshift	-	NC_000010.11:g.68574231A>-	NCI-TCGA
rs546506706	p.Val633Ile	missense variant	-	NC_000010.11:g.68574235G>A	ExAC,TOPMed,gnomAD
rs1188274184	p.Val634Phe	missense variant	-	NC_000010.11:g.68574238G>T	gnomAD
rs1473977983	p.Val635Ala	missense variant	-	NC_000010.11:g.68574242T>C	gnomAD
rs1416509462	p.Val635Leu	missense variant	-	NC_000010.11:g.68574241G>T	gnomAD
rs1368200410	p.Pro636Leu	missense variant	-	NC_000010.11:g.68574245C>T	TOPMed
rs1368200410	p.Pro636Arg	missense variant	-	NC_000010.11:g.68574245C>G	TOPMed
rs545206990	p.Val639Ile	missense variant	-	NC_000010.11:g.68600981G>A	1000Genomes,ExAC,gnomAD
rs1213907743	p.Asn643Lys	missense variant	-	NC_000010.11:g.68600995C>G	gnomAD
rs747726744	p.Lys644Arg	missense variant	-	NC_000010.11:g.68600997A>G	ExAC,gnomAD
rs769368130	p.Arg645Ser	missense variant	-	NC_000010.11:g.68601001G>T	ExAC,gnomAD
rs772537863	p.Pro646Leu	missense variant	-	NC_000010.11:g.68601003C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gln647His	missense variant	-	NC_000010.11:g.68601007G>C	NCI-TCGA
rs1345339087	p.Arg648Lys	missense variant	-	NC_000010.11:g.68601009G>A	gnomAD
rs1217553216	p.Glu649Lys	missense variant	-	NC_000010.11:g.68601011G>A	gnomAD
COSM919762	p.Lys650Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68601016G>T	NCI-TCGA Cosmic
rs1448357914	p.Lys651Glu	missense variant	-	NC_000010.11:g.68601017A>G	TOPMed
COSM1474718	p.Lys651Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68601019G>T	NCI-TCGA Cosmic
rs1242174433	p.Pro652Leu	missense variant	-	NC_000010.11:g.68601021C>T	gnomAD
COSM6130143	p.Lys653Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68601023A>G	NCI-TCGA Cosmic
COSM919763	p.Lys653Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68601024A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu655Ter	frameshift	-	NC_000010.11:g.68601027T>-	NCI-TCGA
rs1266734167	p.Ala657Gly	missense variant	-	NC_000010.11:g.68644699C>G	gnomAD
rs755655526	p.Asp658Asn	missense variant	-	NC_000010.11:g.68644701G>A	ExAC
NCI-TCGA novel	p.Asp660Gly	missense variant	-	NC_000010.11:g.68644708A>G	NCI-TCGA
rs201980026	p.Asn661His	missense variant	-	NC_000010.11:g.68644710A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1186060538	p.Asn661Lys	missense variant	-	NC_000010.11:g.68644712C>A	TOPMed
rs1252747230	p.Pro667Ser	missense variant	-	NC_000010.11:g.68644728C>T	gnomAD
rs748862192	p.Lys668Met	missense variant	-	NC_000010.11:g.68644732A>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu670Gln	missense variant	-	NC_000010.11:g.68644737G>C	NCI-TCGA
rs1409004229	p.Met672Val	missense variant	-	NC_000010.11:g.68644743A>G	gnomAD
COSM4015289	p.Asp673Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68644747A>T	NCI-TCGA Cosmic
rs138802838	p.Tyr674Asn	missense variant	-	NC_000010.11:g.68644749T>A	ESP,ExAC,TOPMed
rs141988009	p.Ser675Gly	missense variant	-	NC_000010.11:g.68644752A>G	NCI-TCGA
rs141988009	p.Ser675Gly	missense variant	-	NC_000010.11:g.68644752A>G	ESP,ExAC,TOPMed,gnomAD
rs1429111804	p.Arg676Ter	stop gained	-	NC_000010.11:g.68644755A>T	TOPMed
rs1429111804	p.Arg676Gly	missense variant	-	NC_000010.11:g.68644755A>G	TOPMed
rs760959991	p.Cys677Tyr	missense variant	-	NC_000010.11:g.68644759G>A	ExAC,TOPMed,gnomAD
rs146391369	p.Cys677Ser	missense variant	-	NC_000010.11:g.68644758T>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly680Val	missense variant	-	NC_000010.11:g.68644768G>T	NCI-TCGA
rs139785845	p.Gln683Glu	missense variant	-	NC_000010.11:g.68644776C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys684Asn	missense variant	-	NC_000010.11:g.68644781A>C	NCI-TCGA
NCI-TCGA novel	p.Leu685Ter	stop gained	-	NC_000010.11:g.68644783T>A	NCI-TCGA
rs751530798	p.His690Asp	missense variant	-	NC_000010.11:g.68644797C>G	ExAC,gnomAD
rs1214857939	p.Val692Phe	missense variant	-	NC_000010.11:g.68644803G>T	gnomAD
rs1273112824	p.Val695Leu	missense variant	-	NC_000010.11:g.68644812G>T	gnomAD
rs767348097	p.Lys697Glu	missense variant	-	NC_000010.11:g.68644818A>G	ExAC,gnomAD
rs755923441	p.Asn698Lys	missense variant	-	NC_000010.11:g.68644823T>G	ExAC,TOPMed,gnomAD
rs201182189	p.Asn698Ser	missense variant	-	NC_000010.11:g.68644822A>G	1000Genomes,ExAC,gnomAD
rs117273115	p.Ser701Asn	missense variant	-	NC_000010.11:g.68644831G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756857307	p.Met702Ile	missense variant	-	NC_000010.11:g.68644835G>A	ExAC,gnomAD
rs753506299	p.Met702Val	missense variant	-	NC_000010.11:g.68644833A>G	ExAC
rs1420099949	p.Gly704Val	missense variant	-	NC_000010.11:g.68644840G>T	gnomAD
rs1388513943	p.Glu706Lys	missense variant	-	NC_000010.11:g.68644845G>A	TOPMed,gnomAD
rs746393438	p.Glu708Ala	missense variant	-	NC_000010.11:g.68644852A>C	ExAC,gnomAD
rs1329258987	p.Lys709Thr	missense variant	-	NC_000010.11:g.68644855A>C	gnomAD
rs772395702	p.Lys714Glu	missense variant	-	NC_000010.11:g.68644869A>G	ExAC,gnomAD
COSM919764	p.Lys714Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68644871G>T	NCI-TCGA Cosmic
rs1355467535	p.Lys715Ile	missense variant	-	NC_000010.11:g.68644873A>T	gnomAD
rs1295587454	p.Leu718Phe	missense variant	-	NC_000010.11:g.68644883A>T	TOPMed
NCI-TCGA novel	p.Asp720Glu	missense variant	-	NC_000010.11:g.68644889T>G	NCI-TCGA
rs747391984	p.Asp720Val	missense variant	-	NC_000010.11:g.68644888A>T	ExAC
rs776880066	p.His721Asn	missense variant	-	NC_000010.11:g.68644890C>A	ExAC,gnomAD
rs1274126645	p.His721Arg	missense variant	-	NC_000010.11:g.68644891A>G	gnomAD
rs769874955	p.Val722Leu	missense variant	-	NC_000010.11:g.68644893G>T	ExAC,TOPMed,gnomAD
rs769874955	p.Val722Met	missense variant	-	NC_000010.11:g.68644893G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp725Tyr	missense variant	-	NC_000010.11:g.68644902G>T	NCI-TCGA
rs767412259	p.Asn729Asp	missense variant	-	NC_000010.11:g.68644914A>G	ExAC,TOPMed,gnomAD
rs767412259	p.Asn729His	missense variant	-	NC_000010.11:g.68644914A>C	ExAC,TOPMed,gnomAD
rs760424193	p.Val730Ile	missense variant	-	NC_000010.11:g.68644917G>A	ExAC,TOPMed,gnomAD
rs1168479529	p.Glu734Lys	missense variant	-	NC_000010.11:g.68644929G>A	gnomAD
rs1418521511	p.Lys735Glu	missense variant	-	NC_000010.11:g.68644932A>G	gnomAD
rs756914683	p.Ser736Leu	missense variant	-	NC_000010.11:g.68644936C>T	NCI-TCGA
rs756914683	p.Ser736Leu	missense variant	-	NC_000010.11:g.68644936C>T	ExAC,gnomAD
NCI-TCGA novel	p.Asn738Ser	missense variant	-	NC_000010.11:g.68644942A>G	NCI-TCGA
rs1375732956	p.Glu740Lys	missense variant	-	NC_000010.11:g.68644947G>A	gnomAD
rs1482597422	p.Glu740Gly	missense variant	-	NC_000010.11:g.68644948A>G	TOPMed
COSM919765	p.Val741Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68644950G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp742His	missense variant	-	NC_000010.11:g.68644953G>C	NCI-TCGA
rs369109149	p.Arg745Gln	missense variant	-	NC_000010.11:g.68644963G>A	ESP,ExAC,TOPMed,gnomAD
rs568996501	p.Arg745Ter	stop gained	-	NC_000010.11:g.68644962C>T	1000Genomes,ExAC,gnomAD
rs568996501	p.Arg745Ter	stop gained	-	NC_000010.11:g.68644962C>T	NCI-TCGA
rs369109149	p.Arg745Gln	missense variant	-	NC_000010.11:g.68644963G>A	NCI-TCGA,NCI-TCGA Cosmic
rs376909245	p.Val756Ile	missense variant	-	NC_000010.11:g.68644995G>A	ESP,ExAC,TOPMed,gnomAD
rs1282707536	p.Val756Ala	missense variant	-	NC_000010.11:g.68644996T>C	gnomAD
NCI-TCGA novel	p.Asn758LysPheSerTerUnk	frameshift	-	NC_000010.11:g.68645002_68645003insAGACAAC	NCI-TCGA
NCI-TCGA novel	p.Gly759Ser	missense variant	-	NC_000010.11:g.68645004G>A	NCI-TCGA
rs1348824746	p.Gly759Asp	missense variant	-	NC_000010.11:g.68645005G>A	NCI-TCGA Cosmic
rs1348824746	p.Gly759Asp	missense variant	-	NC_000010.11:g.68645005G>A	gnomAD
rs1210468278	p.Ile760Leu	missense variant	-	NC_000010.11:g.68645007A>C	gnomAD
NCI-TCGA novel	p.Lys761AsnPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.68645010A>-	NCI-TCGA
rs762991587	p.His762Arg	missense variant	-	NC_000010.11:g.68645014A>G	ExAC
rs773409567	p.His762Tyr	missense variant	-	NC_000010.11:g.68645013C>T	ExAC,gnomAD
rs139443981	p.His764Asp	missense variant	-	NC_000010.11:g.68645019C>G	ESP,TOPMed,gnomAD
rs139443981	p.His764Tyr	missense variant	-	NC_000010.11:g.68645019C>T	ESP,TOPMed,gnomAD
rs200213853	p.His764Gln	missense variant	-	NC_000010.11:g.68645021C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1193807052	p.His764Arg	missense variant	-	NC_000010.11:g.68645020A>G	gnomAD
rs200213853	p.His764Gln	missense variant	-	NC_000010.11:g.68645021C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs775317352	p.Cys765Arg	missense variant	-	NC_000010.11:g.68645022T>C	ExAC,gnomAD
rs1456785468	p.Asn771Ser	missense variant	-	NC_000010.11:g.68645041A>G	gnomAD
COSM4850289	p.Ser773Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645047C>T	NCI-TCGA Cosmic
rs763992387	p.Phe774Leu	missense variant	-	NC_000010.11:g.68645051T>A	ExAC,gnomAD
NCI-TCGA novel	p.Lys775LeuPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.68645051_68645052insTTAGTTAC	NCI-TCGA
COSM1348709	p.Lys776AsnPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.68645052A>-	NCI-TCGA Cosmic
rs1251247697	p.Asn778Ser	missense variant	-	NC_000010.11:g.68645062A>G	TOPMed,gnomAD
rs761699801	p.Asn778Asp	missense variant	-	NC_000010.11:g.68645061A>G	ExAC,gnomAD
rs750068661	p.Glu780Gln	missense variant	-	NC_000010.11:g.68645067G>C	ExAC,TOPMed,gnomAD
rs1432830647	p.Glu781Asp	missense variant	-	NC_000010.11:g.68645072A>C	gnomAD
COSM919767	p.Glu781Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.68645070G>T	NCI-TCGA Cosmic
rs376078561	p.Gly783Ser	missense variant	-	NC_000010.11:g.68645076G>A	ExAC,TOPMed,gnomAD
rs765874881	p.Gly783Val	missense variant	-	NC_000010.11:g.68645077G>T	ExAC,gnomAD
rs752031507	p.Thr785Ile	missense variant	-	NC_000010.11:g.68645083C>T	ExAC,gnomAD
rs1372200378	p.Thr785Ala	missense variant	-	NC_000010.11:g.68645082A>G	gnomAD
rs1472082373	p.Leu786Phe	missense variant	-	NC_000010.11:g.68645087G>T	TOPMed
rs1409457779	p.Glu787Ala	missense variant	-	NC_000010.11:g.68645089A>C	TOPMed
NCI-TCGA novel	p.Ser790Phe	missense variant	-	NC_000010.11:g.68645098C>T	NCI-TCGA
rs748569151	p.Tyr791Phe	missense variant	-	NC_000010.11:g.68645101A>T	ExAC,gnomAD
rs1431681610	p.Tyr791His	missense variant	-	NC_000010.11:g.68645100T>C	gnomAD
rs1470171995	p.Lys792Glu	missense variant	-	NC_000010.11:g.68645103A>G	TOPMed,gnomAD
rs756448233	p.Phe793Leu	missense variant	-	NC_000010.11:g.68645106T>C	ExAC,gnomAD
rs1057302260	p.Lys795Gln	missense variant	-	NC_000010.11:g.68645112A>C	TOPMed
COSM3439893	p.Lys795Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645112A>G	NCI-TCGA Cosmic
rs140860687	p.Asp796His	missense variant	-	NC_000010.11:g.68645115G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1010322878	p.Thr797Ile	missense variant	-	NC_000010.11:g.68645119C>T	TOPMed,gnomAD
rs1010322878	p.Thr797Asn	missense variant	-	NC_000010.11:g.68645119C>A	TOPMed,gnomAD
rs770934700	p.Thr797Pro	missense variant	-	NC_000010.11:g.68645118A>C	ExAC,gnomAD
rs770934700	p.Thr797Ala	missense variant	-	NC_000010.11:g.68645118A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala798Thr	missense variant	-	NC_000010.11:g.68645121G>A	NCI-TCGA
rs746949432	p.Ala798Val	missense variant	-	NC_000010.11:g.68645122C>T	ExAC,gnomAD
rs768784531	p.His800Asp	missense variant	-	NC_000010.11:g.68645127C>G	ExAC
rs374183683	p.His800Arg	missense variant	-	NC_000010.11:g.68645128A>G	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Lys801Asn	missense variant	-	NC_000010.11:g.68645132A>C	NCI-TCGA
rs553983795	p.Lys801Glu	missense variant	-	NC_000010.11:g.68645130A>G	1000Genomes,TOPMed,gnomAD
rs765094207	p.Ala803Thr	missense variant	-	NC_000010.11:g.68645136G>A	NCI-TCGA,NCI-TCGA Cosmic
rs765094207	p.Ala803Thr	missense variant	-	NC_000010.11:g.68645136G>A	ExAC,TOPMed,gnomAD
COSM3985702	p.Ala803Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645136G>T	NCI-TCGA Cosmic
rs1328525221	p.Met804Thr	missense variant	-	NC_000010.11:g.68645140T>C	gnomAD
rs978163164	p.Met804Val	missense variant	-	NC_000010.11:g.68645139A>G	gnomAD
COSM1297382	p.Ser806Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645146C>T	NCI-TCGA Cosmic
rs766431300	p.Thr809Ser	missense variant	-	NC_000010.11:g.68645154A>T	ExAC,TOPMed,gnomAD
rs1298265659	p.Met811Thr	missense variant	-	NC_000010.11:g.68645161T>C	gnomAD
rs751146830	p.Met811Ile	missense variant	-	NC_000010.11:g.68645162G>A	ExAC,gnomAD
rs768061059	p.Leu816Val	missense variant	-	NC_000010.11:g.68645175C>G	ExAC,gnomAD
rs1327178282	p.Leu816Pro	missense variant	-	NC_000010.11:g.68645176T>C	gnomAD
rs753171164	p.Gly818Arg	missense variant	-	NC_000010.11:g.68645181G>A	ExAC,gnomAD
rs756497377	p.Arg819Gly	missense variant	-	NC_000010.11:g.68645184A>G	ExAC,gnomAD
rs372492171	p.Asn821Lys	missense variant	-	NC_000010.11:g.68645192C>A	ESP,ExAC,TOPMed,gnomAD
rs376967368	p.Val822Ile	missense variant	-	NC_000010.11:g.68645193G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln826Ter	stop gained	-	NC_000010.11:g.68645205C>T	NCI-TCGA
rs370296152	p.Pro828Ser	missense variant	-	NC_000010.11:g.68645211C>T	ESP,ExAC,TOPMed,gnomAD
rs74925160	p.Cys832Tyr	missense variant	-	NC_000010.11:g.68645224G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1475941689	p.Cys832Gly	missense variant	-	NC_000010.11:g.68645223T>G	gnomAD
COSM6066575	p.Ser834Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645229T>G	NCI-TCGA Cosmic
rs1419271249	p.Ile835Phe	missense variant	-	NC_000010.11:g.68645232A>T	gnomAD
rs1457693518	p.His837Arg	missense variant	-	NC_000010.11:g.68645239A>G	gnomAD
rs368145515	p.His837Gln	missense variant	-	NC_000010.11:g.68645240T>A	ESP,ExAC,TOPMed,gnomAD
rs544865051	p.Ser838Pro	missense variant	-	NC_000010.11:g.68645241T>C	1000Genomes,TOPMed
NCI-TCGA novel	p.Ser839ThrPheSerTerUnk	frameshift	-	NC_000010.11:g.68645243_68645244TT>-	NCI-TCGA
rs776749771	p.His840Tyr	missense variant	-	NC_000010.11:g.68645247C>T	ExAC,gnomAD
rs1392120109	p.His840Arg	missense variant	-	NC_000010.11:g.68645248A>G	gnomAD
rs769499798	p.Ser841Pro	missense variant	-	NC_000010.11:g.68645250T>C	ExAC,TOPMed,gnomAD
rs77500190	p.Ile842Leu	missense variant	-	NC_000010.11:g.68645253A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs77500190	p.Ile842Val	missense variant	-	NC_000010.11:g.68645253A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs77500190	p.Ile842Val	missense variant	-	NC_000010.11:g.68645253A>G	NCI-TCGA,NCI-TCGA Cosmic
rs1293804972	p.Asn844Ser	missense variant	-	NC_000010.11:g.68645260A>G	gnomAD
rs200544824	p.His846Arg	missense variant	-	NC_000010.11:g.68645266A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala847ValPheIlePheSerTyrIlePheAsn	insertion	-	NC_000010.11:g.68645270_68645271insGTCTTCATTTTTAGTTACATTTTCAAC	NCI-TCGA
rs375262638	p.Ala847Thr	missense variant	-	NC_000010.11:g.68645268G>A	ESP,ExAC,TOPMed,gnomAD
rs759086155	p.Ser848Thr	missense variant	-	NC_000010.11:g.68645272G>C	ExAC
rs200014013	p.Ser848Gly	missense variant	-	NC_000010.11:g.68645271A>G	ExAC,gnomAD
rs1480841047	p.Ser848Arg	missense variant	-	NC_000010.11:g.68645273T>G	gnomAD
rs200014013	p.Ser848Cys	missense variant	-	NC_000010.11:g.68645271A>T	ExAC,gnomAD
rs1252405324	p.Ile849Met	missense variant	-	NC_000010.11:g.68645276A>G	TOPMed,gnomAD
rs766969350	p.His850Tyr	missense variant	-	NC_000010.11:g.68645277C>T	ExAC,gnomAD
rs761109513	p.Asn851Ser	missense variant	-	NC_000010.11:g.68645281A>G	ExAC,TOPMed,gnomAD
rs1188096296	p.Gly853Asp	missense variant	-	NC_000010.11:g.68645287G>A	TOPMed,gnomAD
rs764367746	p.Asp854Glu	missense variant	-	NC_000010.11:g.68645291T>A	ExAC,gnomAD
rs199602262	p.Pro856Gln	missense variant	-	NC_000010.11:g.68645296C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs757552396	p.Thr858Pro	missense variant	-	NC_000010.11:g.68645301A>C	ExAC,TOPMed,gnomAD
rs757552396	p.Thr858Ala	missense variant	-	NC_000010.11:g.68645301A>G	ExAC,TOPMed,gnomAD
rs1375072224	p.Thr858Asn	missense variant	-	NC_000010.11:g.68645302C>A	gnomAD
rs1462874401	p.Pro859Ala	missense variant	-	NC_000010.11:g.68645304C>G	gnomAD
rs750646872	p.Pro859Leu	missense variant	-	NC_000010.11:g.68645305C>T	ExAC,gnomAD
rs1362476717	p.Glu860Asp	missense variant	-	NC_000010.11:g.68645309G>T	NCI-TCGA
rs1362476717	p.Glu860Asp	missense variant	-	NC_000010.11:g.68645309G>T	TOPMed
rs1416662531	p.Glu860Gln	missense variant	-	NC_000010.11:g.68645307G>C	gnomAD
rs1378554181	p.Ile862Thr	missense variant	-	NC_000010.11:g.68645314T>C	gnomAD
rs555162188	p.Ile862Met	missense variant	-	NC_000010.11:g.68645315A>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro863Ser	missense variant	-	NC_000010.11:g.68645316C>T	NCI-TCGA
rs748110423	p.Pro863Leu	missense variant	-	NC_000010.11:g.68645317C>T	ExAC,TOPMed,gnomAD
rs748110423	p.Pro863Arg	missense variant	-	NC_000010.11:g.68645317C>G	ExAC,TOPMed,gnomAD
rs1208117050	p.Ser864Asn	missense variant	-	NC_000010.11:g.68645320G>A	gnomAD
rs1307848459	p.Lys865Glu	missense variant	-	NC_000010.11:g.68645322A>G	TOPMed,gnomAD
rs201626139	p.Lys865Arg	missense variant	-	NC_000010.11:g.68645323A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3807537	p.Lys865Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645323A>C	NCI-TCGA Cosmic
rs777556549	p.Glu866Gly	missense variant	-	NC_000010.11:g.68645326A>G	ExAC,TOPMed,gnomAD
rs1184220731	p.Asp869Tyr	missense variant	-	NC_000010.11:g.68645334G>T	TOPMed
rs199844508	p.Val873Phe	missense variant	-	NC_000010.11:g.68645346G>T	ExAC,TOPMed,gnomAD
rs199844508	p.Val873Ile	missense variant	-	NC_000010.11:g.68645346G>A	ExAC,TOPMed,gnomAD
rs1180618389	p.Ser876Arg	missense variant	-	NC_000010.11:g.68645357T>G	gnomAD
rs1264547810	p.Leu877Ile	missense variant	-	NC_000010.11:g.68645358C>A	TOPMed,gnomAD
rs1264547810	p.Leu877Ile	missense variant	-	NC_000010.11:g.68645358C>A	NCI-TCGA Cosmic
rs1450452283	p.Leu878Val	missense variant	-	NC_000010.11:g.68645361T>G	TOPMed,gnomAD
rs771580099	p.Ser879Leu	missense variant	-	NC_000010.11:g.68645365C>T	ExAC,gnomAD
rs1362146784	p.Ser879Pro	missense variant	-	NC_000010.11:g.68645364T>C	TOPMed
rs764721765	p.Met881Val	missense variant	-	NC_000010.11:g.68645370A>G	ExAC,gnomAD
rs764721765	p.Met881Val	missense variant	-	NC_000010.11:g.68645370A>G	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp883Tyr	missense variant	-	NC_000010.11:g.68645376G>T	NCI-TCGA
rs1174505520	p.Asp883His	missense variant	-	NC_000010.11:g.68645376G>C	TOPMed,gnomAD
rs1174505520	p.Asp883Asn	missense variant	-	NC_000010.11:g.68645376G>A	TOPMed,gnomAD
rs145047656	p.Asp883Gly	missense variant	-	NC_000010.11:g.68645377A>G	ESP,TOPMed
rs1271483060	p.Arg884Gly	missense variant	-	NC_000010.11:g.68645379A>G	TOPMed
rs754279035	p.Arg885Ile	missense variant	-	NC_000010.11:g.68645383G>T	ExAC,gnomAD
rs1056932913	p.Thr887Arg	missense variant	-	NC_000010.11:g.68645389C>G	TOPMed
rs762278729	p.Leu888Trp	missense variant	-	NC_000010.11:g.68645392T>G	ExAC,TOPMed
rs762278729	p.Leu888Ser	missense variant	-	NC_000010.11:g.68645392T>C	ExAC,TOPMed
rs750700067	p.Val891Leu	missense variant	-	NC_000010.11:g.68645400G>C	ExAC,TOPMed,gnomAD
COSM4852093	p.Val891Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645400G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val892Ile	missense variant	-	NC_000010.11:g.68645403G>A	NCI-TCGA
rs780287566	p.Val892Ala	missense variant	-	NC_000010.11:g.68645404T>C	NCI-TCGA
rs758638901	p.Val892Leu	missense variant	-	NC_000010.11:g.68645403G>T	ExAC,gnomAD
rs780287566	p.Val892Ala	missense variant	-	NC_000010.11:g.68645404T>C	ExAC,TOPMed,gnomAD
rs780287566	p.Val892Gly	missense variant	-	NC_000010.11:g.68645404T>G	ExAC,TOPMed,gnomAD
rs1366020378	p.Ile894Val	missense variant	-	NC_000010.11:g.68645409A>G	TOPMed
rs1167876385	p.Ala896Asp	missense variant	-	NC_000010.11:g.68645416C>A	TOPMed
COSM3439895	p.Ala896Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645416C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser901Leu	missense variant	-	NC_000010.11:g.68645431C>T	NCI-TCGA
rs1169743622	p.Ala903Val	missense variant	-	NC_000010.11:g.68645437C>T	TOPMed
rs1262979953	p.Ala903Thr	missense variant	-	NC_000010.11:g.68645436G>A	gnomAD
rs1465708998	p.Pro904Ser	missense variant	-	NC_000010.11:g.68645439C>T	gnomAD
rs1465708998	p.Pro904Ser	missense variant	-	NC_000010.11:g.68645439C>T	NCI-TCGA Cosmic
rs749136636	p.Glu906Asp	missense variant	-	NC_000010.11:g.68645447G>T	ExAC,gnomAD
rs749136636	p.Glu906Asp	missense variant	-	NC_000010.11:g.68645447G>T	NCI-TCGA
NCI-TCGA novel	p.Asn907Ser	missense variant	-	NC_000010.11:g.68645449A>G	NCI-TCGA
rs770781811	p.Ser909Pro	missense variant	-	NC_000010.11:g.68645454T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys912Asn	missense variant	-	NC_000010.11:g.68645465G>T	NCI-TCGA
COSM685568	p.Glu914Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645471G>C	NCI-TCGA Cosmic
rs1270105441	p.Lys915Asn	missense variant	-	NC_000010.11:g.68645474G>C	TOPMed
rs960765137	p.Lys915Glu	missense variant	-	NC_000010.11:g.68645472A>G	TOPMed,gnomAD
rs1205050983	p.Asp916Val	missense variant	-	NC_000010.11:g.68645476A>T	TOPMed
rs1431481634	p.Glu917Lys	missense variant	-	NC_000010.11:g.68645478G>A	gnomAD
rs12241767	p.Glu917Asp	missense variant	-	NC_000010.11:g.68645480G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln921Lys	missense variant	-	NC_000010.11:g.68645490C>A	NCI-TCGA
rs201601232	p.Thr923Ile	missense variant	-	NC_000010.11:g.68645497C>T	ESP,ExAC,TOPMed,gnomAD
rs1389498068	p.Thr923Pro	missense variant	-	NC_000010.11:g.68645496A>C	gnomAD
rs1041429101	p.Ser925Ile	missense variant	-	NC_000010.11:g.68645503G>T	TOPMed,gnomAD
rs1318465923	p.Leu926Trp	missense variant	-	NC_000010.11:g.68645506T>G	gnomAD
rs1272700233	p.Leu927Pro	missense variant	-	NC_000010.11:g.68645509T>C	TOPMed
rs775113262	p.Asn928Ser	missense variant	-	NC_000010.11:g.68645512A>G	ExAC,TOPMed,gnomAD
rs1345875157	p.Ser929Arg	missense variant	-	NC_000010.11:g.68645516C>A	TOPMed
rs1441440122	p.Ser929Thr	missense variant	-	NC_000010.11:g.68645515G>C	gnomAD
rs1307233394	p.Cys930Gly	missense variant	-	NC_000010.11:g.68645517T>G	TOPMed
rs1273853414	p.Ile933Met	missense variant	-	NC_000010.11:g.68645528C>G	TOPMed,gnomAD
rs367630351	p.Tyr935Cys	missense variant	-	NC_000010.11:g.68645533A>G	ESP,ExAC,TOPMed,gnomAD
rs1330901615	p.Thr936Ala	missense variant	-	NC_000010.11:g.68645535A>G	TOPMed
rs777226839	p.Arg938Gly	missense variant	-	NC_000010.11:g.68645541A>G	ExAC,gnomAD
rs762181670	p.Arg938Thr	missense variant	-	NC_000010.11:g.68645542G>C	ExAC,TOPMed,gnomAD
rs1470091358	p.Gln942Arg	missense variant	-	NC_000010.11:g.68645554A>G	gnomAD
rs773647493	p.Asp943His	missense variant	-	NC_000010.11:g.68645556G>C	ExAC,TOPMed,gnomAD
rs773647493	p.Asp943Asn	missense variant	-	NC_000010.11:g.68645556G>A	ExAC,TOPMed,gnomAD
rs763408006	p.Asn945Lys	missense variant	-	NC_000010.11:g.68645564C>A	ExAC,TOPMed,gnomAD
rs1053985159	p.Gln947Glu	missense variant	-	NC_000010.11:g.68645568C>G	TOPMed
rs751796703	p.Pro951Thr	missense variant	-	NC_000010.11:g.68645580C>A	ExAC,gnomAD
rs751796703	p.Pro951Ser	missense variant	-	NC_000010.11:g.68645580C>T	ExAC,gnomAD
rs767442830	p.His955Gln	missense variant	-	NC_000010.11:g.68645594C>G	ExAC,gnomAD
rs1412712898	p.His955Pro	missense variant	-	NC_000010.11:g.68645593A>C	gnomAD
rs757074739	p.Leu959Val	missense variant	-	NC_000010.11:g.68645604T>G	ExAC,gnomAD
rs778816209	p.Ser963Ile	missense variant	-	NC_000010.11:g.68645617G>T	ExAC,gnomAD
rs1322597846	p.Cys965Gly	missense variant	-	NC_000010.11:g.68645622T>G	gnomAD
NCI-TCGA novel	p.Asn966Ile	missense variant	-	NC_000010.11:g.68645626A>T	NCI-TCGA
rs368590656	p.Thr967Met	missense variant	-	NC_000010.11:g.68645629C>T	ESP,ExAC,TOPMed,gnomAD
rs376744298	p.Asn971Ser	missense variant	-	NC_000010.11:g.68645641A>G	ESP,ExAC,TOPMed,gnomAD
rs746603164	p.Gly972Trp	missense variant	-	NC_000010.11:g.68645643G>T	ExAC,TOPMed,gnomAD
rs1226096019	p.Thr974Asn	missense variant	-	NC_000010.11:g.68645650C>A	gnomAD
COSM1348710	p.Leu977Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645658C>T	NCI-TCGA Cosmic
rs775949171	p.Ser978Phe	missense variant	-	NC_000010.11:g.68645662C>T	ExAC,gnomAD
COSM323786	p.Ser978Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645662C>G	NCI-TCGA Cosmic
rs531684841	p.Ser980Pro	missense variant	-	NC_000010.11:g.68645667T>C	1000Genomes,ExAC,gnomAD
COSM4823405	p.Ser980Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645668C>T	NCI-TCGA Cosmic
rs780148134	p.His981Arg	missense variant	-	NC_000010.11:g.68645671A>G	ExAC,TOPMed,gnomAD
rs1206884294	p.Ile982Val	missense variant	-	NC_000010.11:g.68645673A>G	gnomAD
rs1252881820	p.Ile982Thr	missense variant	-	NC_000010.11:g.68645674T>C	gnomAD
NCI-TCGA novel	p.Ser984Leu	missense variant	-	NC_000010.11:g.68645680C>T	NCI-TCGA
rs74412312	p.Ala985Ser	missense variant	-	NC_000010.11:g.68645682G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774651932	p.Asn987Lys	missense variant	-	NC_000010.11:g.68645690C>A	ExAC,TOPMed,gnomAD
rs754559479	p.Gln988Arg	missense variant	-	NC_000010.11:g.68645692A>G	ExAC,gnomAD
rs767638652	p.Ala989Thr	missense variant	-	NC_000010.11:g.68645694G>A	ExAC,TOPMed,gnomAD
rs756171978	p.Ser990Pro	missense variant	-	NC_000010.11:g.68645697T>C	ExAC,TOPMed,gnomAD
COSM271701	p.Thr991Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645701C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys992ValPheSerTerUnk	frameshift	-	NC_000010.11:g.68645702_68645703AA>-	NCI-TCGA
rs1369608471	p.His994Arg	missense variant	-	NC_000010.11:g.68645710A>G	gnomAD
rs141982595	p.Glu995Asp	missense variant	-	NC_000010.11:g.68645714A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779775444	p.Leu1005Ile	missense variant	-	NC_000010.11:g.68645742C>A	ExAC,gnomAD
COSM3790897	p.Leu1005Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645742C>G	NCI-TCGA Cosmic
rs754524291	p.Pro1008Ala	missense variant	-	NC_000010.11:g.68645751C>G	ExAC,gnomAD
rs780895678	p.Lys1009Thr	missense variant	-	NC_000010.11:g.68645755A>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser1010Ter	stop gained	-	NC_000010.11:g.68645758C>G	NCI-TCGA
rs747672308	p.Ser1010Leu	missense variant	-	NC_000010.11:g.68645758C>T	ExAC,gnomAD
rs1275579597	p.Ser1012Leu	missense variant	-	NC_000010.11:g.68645764C>T	gnomAD
rs369726331	p.Ser1013Phe	missense variant	-	NC_000010.11:g.68645767C>T	ESP,ExAC,TOPMed,gnomAD
rs1282487969	p.Ile1015Thr	missense variant	-	NC_000010.11:g.68645773T>C	gnomAD
rs527450173	p.Ile1015Phe	missense variant	-	NC_000010.11:g.68645772A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs16925541	p.Asn1018Ser	missense variant	-	NC_000010.11:g.68645782A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs16925541	p.Asn1018Ser	missense variant	-	NC_000010.11:g.68645782A>G	UniProt,dbSNP
VAR_027737	p.Asn1018Ser	missense variant	-	NC_000010.11:g.68645782A>G	UniProt
rs1178253088	p.Asn1018Lys	missense variant	-	NC_000010.11:g.68645783T>A	TOPMed
rs139509386	p.Lys1019Arg	missense variant	-	NC_000010.11:g.68645785A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs72799515	p.Lys1019Glu	missense variant	-	NC_000010.11:g.68645784A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772240396	p.Ser1020Ile	missense variant	-	NC_000010.11:g.68645788G>T	ExAC,TOPMed,gnomAD
rs772240396	p.Ser1020Asn	missense variant	-	NC_000010.11:g.68645788G>A	ExAC,TOPMed,gnomAD
rs772240396	p.Ser1020Thr	missense variant	-	NC_000010.11:g.68645788G>C	ExAC,TOPMed,gnomAD
rs1188922908	p.Ser1020Cys	missense variant	-	NC_000010.11:g.68645787A>T	gnomAD
rs1206506914	p.Ile1021Met	missense variant	-	NC_000010.11:g.68645792T>G	TOPMed
rs775756548	p.Ile1021Thr	missense variant	-	NC_000010.11:g.68645791T>C	ExAC,TOPMed,gnomAD
rs1175135226	p.Ala1022Ser	missense variant	-	NC_000010.11:g.68645793G>T	gnomAD
rs1175135226	p.Ala1022Thr	missense variant	-	NC_000010.11:g.68645793G>A	gnomAD
rs1402287859	p.Gly1024Arg	missense variant	-	NC_000010.11:g.68645799G>A	gnomAD
rs760786464	p.Thr1027Ile	missense variant	-	NC_000010.11:g.68645809C>T	ExAC,TOPMed,gnomAD
rs764120752	p.Leu1028Val	missense variant	-	NC_000010.11:g.68645811C>G	ExAC,gnomAD
COSM919770	p.Leu1028His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645812T>A	NCI-TCGA Cosmic
rs762819840	p.Asn1030Ser	missense variant	-	NC_000010.11:g.68645818A>G	ExAC,gnomAD
rs750382805	p.Asn1030His	missense variant	-	NC_000010.11:g.68645817A>C	ExAC,gnomAD
rs1346578352	p.Cys1031Arg	missense variant	-	NC_000010.11:g.68645820T>C	TOPMed,gnomAD
rs766203888	p.His1036Arg	missense variant	-	NC_000010.11:g.68645836A>G	ExAC,gnomAD
rs1364937733	p.Gln1037Arg	missense variant	-	NC_000010.11:g.68645839A>G	gnomAD
rs751380533	p.Leu1038Phe	missense variant	-	NC_000010.11:g.68645843G>C	ExAC,gnomAD
rs1312926475	p.Pro1039Ser	missense variant	-	NC_000010.11:g.68645844C>T	TOPMed
NCI-TCGA novel	p.Pro1040Leu	missense variant	-	NC_000010.11:g.68645848C>T	NCI-TCGA
COSM1317440	p.Pro1040Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645847C>T	NCI-TCGA Cosmic
rs917112269	p.Asn1042Ser	missense variant	-	NC_000010.11:g.68645854A>G	TOPMed,gnomAD
rs1345783470	p.Asn1043Ser	missense variant	-	NC_000010.11:g.68645857A>G	TOPMed,gnomAD
rs147552850	p.Glu1044Gln	missense variant	-	NC_000010.11:g.68645859G>C	ESP,ExAC,TOPMed,gnomAD
rs147552850	p.Glu1044Lys	missense variant	-	NC_000010.11:g.68645859G>A	ESP,ExAC,TOPMed,gnomAD
rs752354134	p.Val1045Met	missense variant	-	NC_000010.11:g.68645862G>A	ExAC,gnomAD
rs1209292552	p.Glu1046Asp	missense variant	-	NC_000010.11:g.68645867G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Cys1048Ter	stop gained	-	NC_000010.11:g.68645873C>A	NCI-TCGA
rs1447505173	p.Asn1049Ser	missense variant	-	NC_000010.11:g.68645875A>G	gnomAD
rs542316647	p.Asn1049Lys	missense variant	-	NC_000010.11:g.68645876C>G	ExAC,gnomAD
rs1433357245	p.Gln1050Ter	stop gained	-	NC_000010.11:g.68645877C>T	gnomAD
rs749816952	p.Leu1051Phe	missense variant	-	NC_000010.11:g.68645882A>C	ExAC,TOPMed,gnomAD
rs771632357	p.Ser1054Asn	missense variant	-	NC_000010.11:g.68645890G>A	ExAC,TOPMed,gnomAD
rs779460953	p.Ser1054Arg	missense variant	-	NC_000010.11:g.68645891C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1057AsnPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.68645895A>-	NCI-TCGA
rs746265860	p.Leu1058Phe	missense variant	-	NC_000010.11:g.68645903G>C	ExAC,TOPMed,gnomAD
rs1459229600	p.Asp1059Asn	missense variant	-	NC_000010.11:g.68645904G>A	gnomAD
rs1246924971	p.Asp1061Gly	missense variant	-	NC_000010.11:g.68645911A>G	TOPMed
NCI-TCGA novel	p.Asp1062Asn	missense variant	-	NC_000010.11:g.68645913G>A	NCI-TCGA
rs1321809694	p.Ser1064Pro	missense variant	-	NC_000010.11:g.68645919T>C	gnomAD
rs1388351088	p.Cys1065Arg	missense variant	-	NC_000010.11:g.68645922T>C	gnomAD
rs1433415202	p.Asp1067His	missense variant	-	NC_000010.11:g.68645928G>C	gnomAD
rs772453601	p.Ala1068Ser	missense variant	-	NC_000010.11:g.68645931G>T	ExAC,TOPMed,gnomAD
rs772453601	p.Ala1068Thr	missense variant	-	NC_000010.11:g.68645931G>A	ExAC,TOPMed,gnomAD
rs375890512	p.Ala1068Val	missense variant	-	NC_000010.11:g.68645932C>T	ESP,ExAC,TOPMed,gnomAD
rs773683265	p.Thr1069Asn	missense variant	-	NC_000010.11:g.68645935C>A	gnomAD
rs773683265	p.Thr1069Ile	missense variant	-	NC_000010.11:g.68645935C>T	gnomAD
rs768736308	p.Thr1069Ser	missense variant	-	NC_000010.11:g.68645934A>T	ExAC,gnomAD
NCI-TCGA novel	p.Gln1072His	missense variant	-	NC_000010.11:g.68645945A>C	NCI-TCGA
rs761880258	p.Gln1072Lys	missense variant	-	NC_000010.11:g.68645943C>A	ExAC,TOPMed,gnomAD
rs766288443	p.Glu1075Asp	missense variant	-	NC_000010.11:g.68645954A>C	ExAC,TOPMed,gnomAD
rs751494650	p.Val1077Phe	missense variant	-	NC_000010.11:g.68645958G>T	ExAC,gnomAD
rs751494650	p.Val1077Ile	missense variant	-	NC_000010.11:g.68645958G>A	ExAC,gnomAD
rs148616666	p.Thr1079Ala	missense variant	-	NC_000010.11:g.68645964A>G	ESP,ExAC,TOPMed,gnomAD
rs1196317399	p.Gln1080Glu	missense variant	-	NC_000010.11:g.68645967C>G	gnomAD
rs1364952858	p.Leu1084Phe	missense variant	-	NC_000010.11:g.68645979C>T	TOPMed,gnomAD
rs755756451	p.Ile1088Met	missense variant	-	NC_000010.11:g.68645993T>G	ExAC,gnomAD
rs370462813	p.Lys1089Asn	missense variant	-	NC_000010.11:g.68645996G>C	ESP,ExAC,TOPMed,gnomAD
rs199803468	p.Ile1090Thr	missense variant	-	NC_000010.11:g.68645998T>C	1000Genomes,ExAC,gnomAD
rs199803468	p.Ile1090Asn	missense variant	-	NC_000010.11:g.68645998T>A	1000Genomes,ExAC,gnomAD
rs746346894	p.Asn1091His	missense variant	-	NC_000010.11:g.68646000A>C	ExAC,gnomAD
rs569630690	p.Tyr1092Cys	missense variant	-	NC_000010.11:g.68646004A>G	1000Genomes,ExAC,gnomAD
rs1289749968	p.Lys1094Gln	missense variant	-	NC_000010.11:g.68646009A>C	TOPMed
rs780408777	p.Pro1095Leu	missense variant	-	NC_000010.11:g.68646013C>T	ExAC,gnomAD
rs1386363151	p.Pro1095Ser	missense variant	-	NC_000010.11:g.68646012C>T	gnomAD
rs747237722	p.Glu1096Ala	missense variant	-	NC_000010.11:g.68646016A>C	ExAC,TOPMed,gnomAD
COSM1505866	p.Glu1096Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68646015G>C	NCI-TCGA Cosmic
rs1364161557	p.Asp1097His	missense variant	-	NC_000010.11:g.68646018G>C	TOPMed
rs776824062	p.Lys1099Asn	missense variant	-	NC_000010.11:g.68646026A>C	ExAC,TOPMed,gnomAD
rs776824062	p.Lys1099Asn	missense variant	-	NC_000010.11:g.68646026A>T	ExAC,TOPMed,gnomAD
rs377753307	p.Lys1099Thr	missense variant	-	NC_000010.11:g.68646025A>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val1100LeuPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.68646021A>-	NCI-TCGA
rs1388958746	p.Val1100Ala	missense variant	-	NC_000010.11:g.68646028T>C	TOPMed
rs1246929477	p.Ser1102Arg	missense variant	-	NC_000010.11:g.68646035T>A	gnomAD
rs769875993	p.Thr1103Ile	missense variant	-	NC_000010.11:g.68646037C>T	ExAC,gnomAD
rs769875993	p.Thr1103Lys	missense variant	-	NC_000010.11:g.68646037C>A	ExAC,gnomAD
rs774175425	p.Pro1104Ser	missense variant	-	NC_000010.11:g.68646039C>T	ExAC,TOPMed,gnomAD
rs774175425	p.Pro1104Thr	missense variant	-	NC_000010.11:g.68646039C>A	ExAC,TOPMed,gnomAD
rs1207691438	p.Val1108Ile	missense variant	-	NC_000010.11:g.68646051G>A	gnomAD
rs1419801430	p.Thr1109Ile	missense variant	-	NC_000010.11:g.68646055C>T	TOPMed
rs759456837	p.Thr1109Pro	missense variant	-	NC_000010.11:g.68646054A>C	ExAC,TOPMed,gnomAD
rs759456837	p.Thr1109Ser	missense variant	-	NC_000010.11:g.68646054A>T	ExAC,TOPMed,gnomAD
rs775491775	p.Asn1111Lys	missense variant	-	NC_000010.11:g.68646062T>G	ExAC,TOPMed,gnomAD
rs1489796126	p.Val1112Ile	missense variant	-	NC_000010.11:g.68646063G>A	TOPMed
rs1249017479	p.Gln1113Pro	missense variant	-	NC_000010.11:g.68646067A>C	gnomAD
COSM1348711	p.Gln1113Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.68646066C>T	NCI-TCGA Cosmic
rs753508495	p.Asn1117Asp	missense variant	-	NC_000010.11:g.68646078A>G	ExAC,gnomAD
rs756749901	p.Asn1117Ser	missense variant	-	NC_000010.11:g.68646079A>G	ExAC,gnomAD
rs1270837763	p.Asn1117Lys	missense variant	-	NC_000010.11:g.68646080T>G	TOPMed
rs750907944	p.Glu1119Gln	missense variant	-	NC_000010.11:g.68646084G>C	ExAC,gnomAD
rs758874383	p.Lys1120Asn	missense variant	-	NC_000010.11:g.68646089G>C	ExAC,TOPMed,gnomAD
rs368453444	p.Gly1121Cys	missense variant	-	NC_000010.11:g.68646090G>T	ESP,ExAC,TOPMed,gnomAD
rs368453444	p.Gly1121Ser	missense variant	-	NC_000010.11:g.68646090G>A	ESP,ExAC,TOPMed,gnomAD
rs1348718356	p.Thr1122Ile	missense variant	-	NC_000010.11:g.68646094C>T	gnomAD
rs747436142	p.Thr1122Ala	missense variant	-	NC_000010.11:g.68646093A>G	ExAC,TOPMed,gnomAD
rs1397637603	p.Ile1123Val	missense variant	-	NC_000010.11:g.68646096A>G	gnomAD
rs3998860	p.Ile1123Met	missense variant	-	NC_000010.11:g.68646098A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs3998860	p.Ile1123Met	missense variant	-	NC_000010.11:g.68646098A>G	UniProt,dbSNP
VAR_027738	p.Ile1123Met	missense variant	-	NC_000010.11:g.68646098A>G	UniProt
rs1339636002	p.Gln1124His	missense variant	-	NC_000010.11:g.68646101A>C	gnomAD
NCI-TCGA novel	p.Gln1125His	missense variant	-	NC_000010.11:g.68646104G>C	NCI-TCGA
COSM3439899	p.Pro1127Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68646108C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro1128His	missense variant	-	NC_000010.11:g.68646112C>A	NCI-TCGA
rs1342380691	p.Ser1129Pro	missense variant	-	NC_000010.11:g.68646114T>C	gnomAD
rs1218929691	p.Ser1129Leu	missense variant	-	NC_000010.11:g.68646115C>T	TOPMed
rs924248684	p.His1132Arg	missense variant	-	NC_000010.11:g.68646124A>G	gnomAD
rs1204024569	p.His1132Tyr	missense variant	-	NC_000010.11:g.68646123C>T	gnomAD
rs924248684	p.His1132Pro	missense variant	-	NC_000010.11:g.68646124A>C	gnomAD
rs748349829	p.Asn1133Ser	missense variant	-	NC_000010.11:g.68646127A>G	ExAC,gnomAD
rs1483986122	p.Asn1133Asp	missense variant	-	NC_000010.11:g.68646126A>G	gnomAD
NCI-TCGA novel	p.Asn1134Ile	missense variant	-	NC_000010.11:g.68646130A>T	NCI-TCGA
NCI-TCGA novel	p.His1135Tyr	missense variant	-	NC_000010.11:g.68646132C>T	NCI-TCGA
rs769774562	p.His1135Arg	missense variant	-	NC_000010.11:g.68646133A>G	ExAC,TOPMed,gnomAD
rs1295885705	p.Thr1140Lys	missense variant	-	NC_000010.11:g.68646148C>A	TOPMed
rs578122005	p.Lys1141Glu	missense variant	-	NC_000010.11:g.68646150A>G	1000Genomes,ExAC,gnomAD
rs578122005	p.Lys1141Gln	missense variant	-	NC_000010.11:g.68646150A>C	1000Genomes,ExAC,gnomAD
rs1430579993	p.Lys1143Asn	missense variant	-	NC_000010.11:g.68646158G>T	gnomAD
rs760585078	p.Thr1146Ala	missense variant	-	NC_000010.11:g.68646165A>G	ExAC,gnomAD
rs763939594	p.Lys1148Gln	missense variant	-	NC_000010.11:g.68646171A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1149Arg	missense variant	-	NC_000010.11:g.68646175A>G	NCI-TCGA
rs1401364774	p.Thr1150Lys	missense variant	-	NC_000010.11:g.68646178C>A	gnomAD
rs1303331451	p.Thr1150Ala	missense variant	-	NC_000010.11:g.68646177A>G	gnomAD
NCI-TCGA novel	p.Lys1151Gln	missense variant	-	NC_000010.11:g.68646180A>C	NCI-TCGA
rs1337667597	p.Ser1152Pro	missense variant	-	NC_000010.11:g.68646183T>C	TOPMed
rs1299478920	p.Ser1155Leu	missense variant	-	NC_000010.11:g.68646193C>T	gnomAD
rs761473647	p.Asp1157Asn	missense variant	-	NC_000010.11:g.68646198G>A	ExAC,gnomAD
rs765328003	p.Asp1157Glu	missense variant	-	NC_000010.11:g.68646200T>G	ExAC,gnomAD
rs200333871	p.Arg1158Gln	missense variant	-	NC_000010.11:g.68646202G>A	ESP,ExAC,TOPMed,gnomAD
rs370887665	p.Arg1158Gly	missense variant	-	NC_000010.11:g.68646201C>G	ESP,ExAC,TOPMed,gnomAD
rs200333871	p.Arg1158Leu	missense variant	-	NC_000010.11:g.68646202G>T	ESP,ExAC,TOPMed,gnomAD
rs370887665	p.Arg1158Trp	missense variant	-	NC_000010.11:g.68646201C>T	ESP,ExAC,TOPMed,gnomAD
rs200333871	p.Arg1158Gln	missense variant	-	NC_000010.11:g.68646202G>A	NCI-TCGA,NCI-TCGA Cosmic
rs370887665	p.Arg1158Trp	missense variant	-	NC_000010.11:g.68646201C>T	NCI-TCGA Cosmic
rs140289196	p.Arg1159Gln	missense variant	-	NC_000010.11:g.68646205G>A	ESP,ExAC,TOPMed,gnomAD
rs140289196	p.Arg1159Gln	missense variant	-	NC_000010.11:g.68646205G>A	NCI-TCGA
rs752034407	p.Arg1159Trp	missense variant	-	NC_000010.11:g.68646204C>T	ExAC,TOPMed,gnomAD
rs752034407	p.Arg1159Trp	missense variant	-	NC_000010.11:g.68646204C>T	NCI-TCGA
rs1481656731	p.Lys1160Ter	stop gained	-	NC_000010.11:g.68646207A>T	TOPMed
rs1252016204	p.Lys1160Ile	missense variant	-	NC_000010.11:g.68646208A>T	TOPMed
NCI-TCGA novel	p.Thr1164Ile	missense variant	-	NC_000010.11:g.68646220C>T	NCI-TCGA
NCI-TCGA novel	p.Val1165Asp	missense variant	-	NC_000010.11:g.68646223T>A	NCI-TCGA
rs781475822	p.Val1165Ala	missense variant	-	NC_000010.11:g.68646223T>C	ExAC,gnomAD
rs752863361	p.Val1166Ile	missense variant	-	NC_000010.11:g.68646225G>A	ExAC,gnomAD
rs1450550822	p.Ser1167Asn	missense variant	-	NC_000010.11:g.68646229G>A	gnomAD
rs777844548	p.Gln1169His	missense variant	-	NC_000010.11:g.68646236A>T	ExAC,gnomAD
rs756422497	p.Gln1169Arg	missense variant	-	NC_000010.11:g.68646235A>G	ExAC,TOPMed,gnomAD
rs534391871	p.Glu1170Gln	missense variant	-	NC_000010.11:g.68646237G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs771101230	p.Asn1171Ser	missense variant	-	NC_000010.11:g.68646241A>G	ExAC,gnomAD
rs780170653	p.Asp1172Asn	missense variant	-	NC_000010.11:g.68646243G>A	ExAC,gnomAD
rs780170653	p.Asp1172His	missense variant	-	NC_000010.11:g.68646243G>C	ExAC,gnomAD
rs1006076006	p.Arg1173Trp	missense variant	-	NC_000010.11:g.68646246C>T	TOPMed
rs768586634	p.Arg1173Leu	missense variant	-	NC_000010.11:g.68646247G>T	ExAC,TOPMed,gnomAD
rs768586634	p.Arg1173Gln	missense variant	-	NC_000010.11:g.68646247G>A	ExAC,TOPMed,gnomAD
rs1389084682	p.Lys1175Arg	missense variant	-	NC_000010.11:g.68646253A>G	gnomAD
rs769552009	p.Glu1177Gln	missense variant	-	NC_000010.11:g.68646258G>C	ExAC,TOPMed,gnomAD
COSM4015291	p.Lys1178Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68646262A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser1180Phe	missense variant	-	NC_000010.11:g.68646268C>T	NCI-TCGA
rs1446160775	p.Tyr1181Cys	missense variant	-	NC_000010.11:g.68646271A>G	TOPMed,gnomAD
rs772721863	p.Met1182Arg	missense variant	-	NC_000010.11:g.68646274T>G	ExAC,TOPMed,gnomAD
rs1369233303	p.Met1182Val	missense variant	-	NC_000010.11:g.68646273A>G	gnomAD
rs772721863	p.Met1182Thr	missense variant	-	NC_000010.11:g.68646274T>C	ExAC,TOPMed,gnomAD
COSM685566	p.Tyr1183Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68646277A>G	NCI-TCGA Cosmic
rs1301782624	p.Cys1187Gly	missense variant	-	NC_000010.11:g.68646288T>G	TOPMed
rs199726871	p.Asp1188Asn	missense variant	-	NC_000010.11:g.68646291G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile1191Thr	missense variant	-	NC_000010.11:g.68646301T>C	NCI-TCGA
COSM919774	p.Ile1191Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68646300A>T	NCI-TCGA Cosmic
rs1222214017	p.Ala1192Thr	missense variant	-	NC_000010.11:g.68646303G>A	TOPMed,gnomAD
rs1222214017	p.Ala1192Pro	missense variant	-	NC_000010.11:g.68646303G>C	TOPMed,gnomAD
rs768003838	p.Ser1193Leu	missense variant	-	NC_000010.11:g.68646307C>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys1194Glu	missense variant	-	NC_000010.11:g.68646309A>G	NCI-TCGA
rs1183864910	p.Lys1194Arg	missense variant	-	NC_000010.11:g.68646310A>G	TOPMed
rs756411103	p.Phe1195Leu	missense variant	-	NC_000010.11:g.68646312T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln1196Glu	missense variant	-	NC_000010.11:g.68646315C>G	NCI-TCGA
rs1489557539	p.Phe1198Leu	missense variant	-	NC_000010.11:g.68646323T>G	gnomAD
rs778097495	p.Gln1200Glu	missense variant	-	NC_000010.11:g.68646327C>G	ExAC,gnomAD
rs1424545277	p.Pro1203Leu	missense variant	-	NC_000010.11:g.68646337C>T	gnomAD
rs1419622422	p.Pro1203Ser	missense variant	-	NC_000010.11:g.68646336C>T	TOPMed
rs1161258020	p.His1204Asn	missense variant	-	NC_000010.11:g.68646339C>A	gnomAD
rs757434667	p.Phe1206Leu	missense variant	-	NC_000010.11:g.68646347T>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro1207Leu	missense variant	-	NC_000010.11:g.68646349C>T	NCI-TCGA
rs560446161	p.Pro1207Thr	missense variant	-	NC_000010.11:g.68646348C>A	gnomAD
rs1351417056	p.Thr1208Ile	missense variant	-	NC_000010.11:g.68646352C>T	gnomAD
rs746949364	p.Thr1208Ala	missense variant	-	NC_000010.11:g.68646351A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly1211ValPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.68646360_68646361insT	NCI-TCGA
rs1436667872	p.Ile1213Phe	missense variant	-	NC_000010.11:g.68646366A>T	gnomAD
rs768780741	p.Ser1215Pro	missense variant	-	NC_000010.11:g.68646372T>C	ExAC,gnomAD
rs780978887	p.Ser1216Leu	missense variant	-	NC_000010.11:g.68646376C>T	ExAC,gnomAD
rs762532408	p.Trp1220Arg	missense variant	-	NC_000010.11:g.68646387T>C	ExAC,gnomAD
rs1330370127	p.Lys1221Thr	missense variant	-	NC_000010.11:g.68646391A>C	gnomAD
rs770429252	p.Pro1222Ser	missense variant	-	NC_000010.11:g.68646393C>T	ExAC,gnomAD
rs1282517618	p.Leu1223Val	missense variant	-	NC_000010.11:g.68646396C>G	gnomAD
rs773912826	p.Thr1226Met	missense variant	-	NC_000010.11:g.68646406C>T	ExAC,TOPMed,gnomAD
rs773912826	p.Thr1226Arg	missense variant	-	NC_000010.11:g.68646406C>G	ExAC,TOPMed,gnomAD
rs761130450	p.Arg1227Gly	missense variant	-	NC_000010.11:g.68646408A>G	ExAC,gnomAD
rs1259393330	p.Ile1229Val	missense variant	-	NC_000010.11:g.68646414A>G	TOPMed
rs757489971	p.Ile1229Met	missense variant	-	NC_000010.11:g.68646416T>G	ExAC,TOPMed,gnomAD
rs754104880	p.Ile1229Thr	missense variant	-	NC_000010.11:g.68646415T>C	ExAC,gnomAD
rs765552539	p.Met1230Val	missense variant	-	NC_000010.11:g.68646417A>G	ExAC,TOPMed,gnomAD
rs750589536	p.Pro1232Ser	missense variant	-	NC_000010.11:g.68646423C>T	ExAC,gnomAD
rs935789803	p.Lys1233Gln	missense variant	-	NC_000010.11:g.68646426A>C	TOPMed
rs140573369	p.Val1235Leu	missense variant	-	NC_000010.11:g.68646432G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1405795758	p.Pro1238Ser	missense variant	-	NC_000010.11:g.68646441C>T	gnomAD
rs1163601769	p.Gln1245Arg	missense variant	-	NC_000010.11:g.68646463A>G	gnomAD
COSM4015293	p.Gln1245His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68646464G>T	NCI-TCGA Cosmic
rs781235061	p.Glu1249Asp	missense variant	-	NC_000010.11:g.68646476A>C	ExAC,gnomAD
rs1308057153	p.Ala1251Thr	missense variant	-	NC_000010.11:g.68646480G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu1252Val	missense variant	-	NC_000010.11:g.68646484A>T	NCI-TCGA
rs755962320	p.Lys1254Asn	missense variant	-	NC_000010.11:g.68646491G>C	ExAC,TOPMed,gnomAD
rs777362644	p.Val1255Met	missense variant	-	NC_000010.11:g.68646492G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1256Asn	missense variant	-	NC_000010.11:g.68646497G>T	NCI-TCGA
rs935570059	p.Val1257Phe	missense variant	-	NC_000010.11:g.68646498G>T	NCI-TCGA Cosmic
rs935570059	p.Val1257Phe	missense variant	-	NC_000010.11:g.68646498G>T	gnomAD
rs575980151	p.Val1257Asp	missense variant	-	NC_000010.11:g.68646499T>A	1000Genomes,ExAC,gnomAD
rs935570059	p.Val1257Ile	missense variant	-	NC_000010.11:g.68646498G>A	gnomAD
rs1161653280	p.Glu1258Lys	missense variant	-	NC_000010.11:g.68646501G>A	TOPMed
rs773967605	p.Asp1261Asn	missense variant	-	NC_000010.11:g.68646510G>A	ExAC,gnomAD
rs771441340	p.Leu1263His	missense variant	-	NC_000010.11:g.68646517T>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu1265Ter	stop gained	-	NC_000010.11:g.68646523T>A	NCI-TCGA
rs1446664258	p.Phe1266Ser	missense variant	-	NC_000010.11:g.68646526T>C	TOPMed
rs1472984119	p.His1267Tyr	missense variant	-	NC_000010.11:g.68646528C>T	gnomAD
rs764524560	p.His1267Arg	missense variant	-	NC_000010.11:g.68646529A>G	ExAC,gnomAD
rs150692118	p.Lys1269Asn	missense variant	-	NC_000010.11:g.68646536A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs762257556	p.Thr1270Met	missense variant	-	NC_000010.11:g.68646538C>T	ExAC,TOPMed,gnomAD
rs750644966	p.Ser1272Pro	missense variant	-	NC_000010.11:g.68646543T>C	ExAC,gnomAD
rs758583829	p.Asn1273Ser	missense variant	-	NC_000010.11:g.68646547A>G	ExAC,TOPMed,gnomAD
rs758583829	p.Asn1273Thr	missense variant	-	NC_000010.11:g.68646547A>C	ExAC,TOPMed,gnomAD
rs755989600	p.Asn1273Lys	missense variant	-	NC_000010.11:g.68646548C>G	ExAC,gnomAD
rs752696543	p.Gly1274Trp	missense variant	-	NC_000010.11:g.68646549G>T	ExAC,TOPMed,gnomAD
rs752696543	p.Gly1274Arg	missense variant	-	NC_000010.11:g.68646549G>A	ExAC,TOPMed,gnomAD
rs752696543	p.Gly1274Trp	missense variant	-	NC_000010.11:g.68646549G>T	NCI-TCGA Cosmic
rs777751079	p.Lys1275Met	missense variant	-	NC_000010.11:g.68646553A>T	ExAC
rs757013883	p.Ala1276Thr	missense variant	-	NC_000010.11:g.68646555G>A	NCI-TCGA
rs757013883	p.Ala1276Thr	missense variant	-	NC_000010.11:g.68646555G>A	ExAC,gnomAD
rs778566641	p.Asp1279Gly	missense variant	-	NC_000010.11:g.68646565A>G	ExAC,gnomAD
rs745474019	p.Lys1280Asn	missense variant	-	NC_000010.11:g.68646569A>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala1281Asp	missense variant	-	NC_000010.11:g.68646571C>A	NCI-TCGA
rs766370975	p.Ala1281Thr	missense variant	-	NC_000010.11:g.68646570G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn1283Lys	missense variant	-	NC_000010.11:g.68646578T>G	NCI-TCGA
NCI-TCGA novel	p.Ser1284Tyr	missense variant	-	NC_000010.11:g.68646580C>A	NCI-TCGA
COSM4850425	p.Gln1285Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68646582C>G	NCI-TCGA Cosmic
rs1280860456	p.Leu1288Ser	missense variant	-	NC_000010.11:g.68646592T>C	gnomAD
NCI-TCGA novel	p.Thr1289Pro	missense variant	-	NC_000010.11:g.68646594A>C	NCI-TCGA
rs575341146	p.Thr1289Met	missense variant	-	NC_000010.11:g.68646595C>T	ExAC,TOPMed,gnomAD
rs575341146	p.Thr1289Lys	missense variant	-	NC_000010.11:g.68646595C>A	ExAC,TOPMed,gnomAD
rs575341146	p.Thr1289Met	missense variant	-	NC_000010.11:g.68646595C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1241035871	p.Ala1292Val	missense variant	-	NC_000010.11:g.68646604C>T	gnomAD
rs765659978	p.Gln1294Arg	missense variant	-	NC_000010.11:g.68646610A>G	ExAC,gnomAD
rs765659978	p.Gln1294Leu	missense variant	-	NC_000010.11:g.68646610A>T	ExAC,gnomAD
rs1389826598	p.His1297Tyr	missense variant	-	NC_000010.11:g.68646618C>T	TOPMed
rs149145995	p.Leu1299Phe	missense variant	-	NC_000010.11:g.68646626G>C	ESP,ExAC,TOPMed,gnomAD
rs766616425	p.Gln1301Arg	missense variant	-	NC_000010.11:g.68646631A>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro1302Ser	missense variant	-	NC_000010.11:g.68646633C>T	NCI-TCGA
rs1173773603	p.Pro1302Leu	missense variant	-	NC_000010.11:g.68646634C>T	gnomAD
rs1415474586	p.Ser1303Phe	missense variant	-	NC_000010.11:g.68646637C>T	gnomAD
rs753733293	p.Pro1306Arg	missense variant	-	NC_000010.11:g.68646646C>G	ExAC,gnomAD
rs1437786011	p.Asn1307Lys	missense variant	-	NC_000010.11:g.68646650C>G	gnomAD
rs547546402	p.Cys1309Trp	missense variant	-	NC_000010.11:g.68646656T>G	1000Genomes,ExAC,gnomAD
rs143389125	p.Asn1311Lys	missense variant	-	NC_000010.11:g.68646662C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148388844	p.Val1312Met	missense variant	-	NC_000010.11:g.68646663G>A	NCI-TCGA
rs148388844	p.Val1312Met	missense variant	-	NC_000010.11:g.68646663G>A	ESP,ExAC,TOPMed,gnomAD
rs148388844	p.Val1312Leu	missense variant	-	NC_000010.11:g.68646663G>C	ESP,ExAC,TOPMed,gnomAD
rs779743688	p.Asp1316Asn	missense variant	-	NC_000010.11:g.68646675G>A	ExAC,TOPMed,gnomAD
rs1261233777	p.Ile1319Met	missense variant	-	NC_000010.11:g.68646686A>G	gnomAD
rs746552035	p.Ile1319Thr	missense variant	-	NC_000010.11:g.68646685T>C	ExAC,gnomAD
rs781773145	p.Arg1320Gln	missense variant	-	NC_000010.11:g.68646688G>A	ExAC,TOPMed,gnomAD
rs149434944	p.Arg1320Trp	missense variant	-	NC_000010.11:g.68646687C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1444867392	p.Phe1321Val	missense variant	-	NC_000010.11:g.68646690T>G	gnomAD
COSM1228955	p.Gln1322Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.68646693C>T	NCI-TCGA Cosmic
rs1246775341	p.Gln1323His	missense variant	-	NC_000010.11:g.68646698G>C	gnomAD
rs538604181	p.Gln1328Lys	missense variant	-	NC_000010.11:g.68646711C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1213489904	p.Gln1328Pro	missense variant	-	NC_000010.11:g.68646712A>C	TOPMed
rs143318741	p.Met1330Thr	missense variant	-	NC_000010.11:g.68646718T>C	ESP,ExAC,TOPMed,gnomAD
rs143318741	p.Met1330Arg	missense variant	-	NC_000010.11:g.68646718T>G	ESP,ExAC,TOPMed,gnomAD
rs552021771	p.His1331Asp	missense variant	-	NC_000010.11:g.68646720C>G	1000Genomes,ExAC,gnomAD
rs753786344	p.Gln1332Glu	missense variant	-	NC_000010.11:g.68646723C>G	ExAC,gnomAD
rs147498630	p.Arg1333Lys	missense variant	-	NC_000010.11:g.68646727G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM919778	p.Pro1335Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68646732C>T	NCI-TCGA Cosmic
rs1344607757	p.Leu1337Met	missense variant	-	NC_000010.11:g.68646738T>A	TOPMed
rs138486590	p.Pro1338Leu	missense variant	-	NC_000010.11:g.68646742C>T	ESP,ExAC,TOPMed,gnomAD
rs1406656777	p.Gly1339Ser	missense variant	-	NC_000010.11:g.68646744G>A	TOPMed
rs779614743	p.Ile1340Val	missense variant	-	NC_000010.11:g.68646747A>G	ExAC,gnomAD
rs754471169	p.Glu1343Val	missense variant	-	NC_000010.11:g.68646757A>T	ExAC,TOPMed,gnomAD
rs751187726	p.Glu1343Lys	missense variant	-	NC_000010.11:g.68646756G>A	ExAC,gnomAD
NCI-TCGA novel	p.Thr1344Ala	missense variant	-	NC_000010.11:g.68646759A>G	NCI-TCGA
rs1348357851	p.Pro1345Thr	missense variant	-	NC_000010.11:g.68646762C>A	gnomAD
rs150543016	p.Pro1345Leu	missense variant	-	NC_000010.11:g.68646763C>T	ESP,ExAC,TOPMed,gnomAD
rs1394508357	p.Leu1346Ser	missense variant	-	NC_000010.11:g.68646766T>C	TOPMed
rs139453548	p.Pro1347Arg	missense variant	-	NC_000010.11:g.68646769C>G	ESP,ExAC,TOPMed,gnomAD
rs778398543	p.Pro1347Ser	missense variant	-	NC_000010.11:g.68646768C>T	ExAC,gnomAD
rs139453548	p.Pro1347Leu	missense variant	-	NC_000010.11:g.68646769C>T	ESP,ExAC,TOPMed,gnomAD
rs774457411	p.Thr1352Ser	missense variant	-	NC_000010.11:g.68646784C>G	ExAC,gnomAD
rs775612872	p.Val1359Glu	missense variant	-	NC_000010.11:g.68646805T>A	ExAC,gnomAD
rs778533319	p.Val1359Leu	missense variant	-	NC_000010.11:g.68646804G>C	ExAC,TOPMed,gnomAD
rs778533319	p.Val1359Leu	missense variant	-	NC_000010.11:g.68646804G>T	ExAC,TOPMed,gnomAD
rs747741400	p.Gly1362Asp	missense variant	-	NC_000010.11:g.68646814G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val1367LeuPheSerTerUnk	stop gained	-	NC_000010.11:g.68646822_68646823insCTGTTTTGGGTTGCATAATGGACCTCGTTTGAGC	NCI-TCGA
NCI-TCGA novel	p.Val1367LeuPheSerTerUnk	frameshift	-	NC_000010.11:g.68646826_68646827insTTTG	NCI-TCGA
rs1410353581	p.Thr1369Ile	missense variant	-	NC_000010.11:g.68646835C>T	gnomAD
rs1333742353	p.Glu1373Asp	missense variant	-	NC_000010.11:g.68646848G>C	gnomAD
COSM273339	p.Val1375Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68646853T>C	NCI-TCGA Cosmic
rs201386456	p.Ser1379Gly	missense variant	-	NC_000010.11:g.68646864A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1384Ter	stop gained	-	NC_000010.11:g.68646879G>T	NCI-TCGA
NCI-TCGA novel	p.Thr1387GlnPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.68646887_68646888insCAAAT	NCI-TCGA
NCI-TCGA novel	p.Thr1387IlePheSerTerUnkUnk	frameshift	-	NC_000010.11:g.68646888_68646889insTT	NCI-TCGA
NCI-TCGA novel	p.Thr1387IlePheSerTerUnkUnk	frameshift	-	NC_000010.11:g.68646888_68646889insTTCTTGTGGCAGAACCAAAAGTTCC	NCI-TCGA
rs754614889	p.Thr1387Ala	missense variant	-	NC_000010.11:g.68646888A>G	ExAC,gnomAD
NCI-TCGA novel	p.Val1388CysPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.68646889_68646890insTTGTGGCAGAACCAAA	NCI-TCGA
NCI-TCGA novel	p.Asp1389Gly	missense variant	-	NC_000010.11:g.68646895A>G	NCI-TCGA
rs1483131525	p.Gln1392Arg	missense variant	-	NC_000010.11:g.68646904A>G	gnomAD
rs752300962	p.Asn1394His	missense variant	-	NC_000010.11:g.68646909A>C	ExAC,TOPMed
rs752300962	p.Asn1394Asp	missense variant	-	NC_000010.11:g.68646909A>G	ExAC,TOPMed
NCI-TCGA novel	p.Phe1395Leu	missense variant	-	NC_000010.11:g.68646914T>A	NCI-TCGA
rs755650127	p.Asn1396His	missense variant	-	NC_000010.11:g.68646915A>C	ExAC,TOPMed,gnomAD
rs144608379	p.Met1400Arg	missense variant	-	NC_000010.11:g.68646928T>G	ESP,ExAC,TOPMed,gnomAD
rs144608379	p.Met1400Thr	missense variant	-	NC_000010.11:g.68646928T>C	ESP,ExAC,TOPMed,gnomAD
rs148470211	p.Asn1405Lys	missense variant	-	NC_000010.11:g.68646944C>A	ESP,ExAC,TOPMed,gnomAD
rs1331004083	p.Pro1406Ser	missense variant	-	NC_000010.11:g.68646945C>T	TOPMed
COSM6066574	p.Thr1407Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68646948A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn1409ThrPheSerTerUnk	frameshift	-	NC_000010.11:g.68646950A>-	NCI-TCGA
NCI-TCGA novel	p.Ser1412Tyr	missense variant	-	NC_000010.11:g.68646964C>A	NCI-TCGA
rs536548153	p.Ile1413Val	missense variant	-	NC_000010.11:g.68646966A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs747133664	p.Ile1413Met	missense variant	-	NC_000010.11:g.68646968A>G	ExAC,gnomAD
rs140112074	p.Ile1413Thr	missense variant	-	NC_000010.11:g.68646967T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs768683199	p.Asp1416Tyr	missense variant	-	NC_000010.11:g.68646975G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser1417Tyr	missense variant	-	NC_000010.11:g.68646979C>A	NCI-TCGA
rs1397737608	p.Leu1419Pro	missense variant	-	NC_000010.11:g.68646985T>C	gnomAD
rs144156611	p.Thr1421Ala	missense variant	-	NC_000010.11:g.68646990A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766096309	p.Ser1423Arg	missense variant	-	NC_000010.11:g.68646998C>G	ExAC,TOPMed,gnomAD
rs762892542	p.Ser1423Arg	missense variant	-	NC_000010.11:g.68646996A>C	ExAC,gnomAD
rs868611128	p.Arg1427Ter	stop gained	-	NC_000010.11:g.68651848C>T	TOPMed,gnomAD
rs1303423182	p.Arg1427Gln	missense variant	-	NC_000010.11:g.68651849G>A	gnomAD
rs868611128	p.Arg1427Gly	missense variant	-	NC_000010.11:g.68651848C>G	TOPMed,gnomAD
rs868611128	p.Arg1427Ter	stop gained	-	NC_000010.11:g.68651848C>T	NCI-TCGA
COSM3368102	p.Ile1429Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68651855T>C	NCI-TCGA Cosmic
rs754303695	p.Gly1434Val	missense variant	-	NC_000010.11:g.68651870G>T	ExAC,TOPMed,gnomAD
rs757849152	p.Pro1435Leu	missense variant	-	NC_000010.11:g.68651873C>T	ExAC,gnomAD
rs746280017	p.Tyr1436His	missense variant	-	NC_000010.11:g.68651875T>C	ExAC,TOPMed,gnomAD
rs746280017	p.Tyr1436Asp	missense variant	-	NC_000010.11:g.68651875T>G	ExAC,TOPMed,gnomAD
rs1390003346	p.Thr1438Ile	missense variant	-	NC_000010.11:g.68651882C>T	TOPMed
rs1459190501	p.Thr1438Ala	missense variant	-	NC_000010.11:g.68651881A>G	TOPMed
rs1390003346	p.Thr1438Ile	missense variant	-	NC_000010.11:g.68651882C>T	NCI-TCGA Cosmic
rs758732313	p.His1439Gln	missense variant	-	NC_000010.11:g.68651886C>G	ExAC,gnomAD
COSM3439902	p.Leu1440Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68651887C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala1442Val	missense variant	-	NC_000010.11:g.68651894C>T	NCI-TCGA
rs747186393	p.Pro1444Arg	missense variant	-	NC_000010.11:g.68651900C>G	ExAC,TOPMed,gnomAD
rs916364742	p.Ser1445Asn	missense variant	-	NC_000010.11:g.68651903G>A	TOPMed
NCI-TCGA novel	p.Ala1448Asp	missense variant	-	NC_000010.11:g.68651912C>A	NCI-TCGA
NCI-TCGA novel	p.Ala1448Val	missense variant	-	NC_000010.11:g.68651912C>T	NCI-TCGA
rs1187754339	p.Glu1451Gln	missense variant	-	NC_000010.11:g.68651920G>C	TOPMed
COSM919779	p.Glu1454Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68651931G>T	NCI-TCGA Cosmic
rs750890650	p.Tyr1457Cys	missense variant	-	NC_000010.11:g.68652503A>G	ExAC,gnomAD
rs758787355	p.Gln1459Lys	missense variant	-	NC_000010.11:g.68652508C>A	ExAC,TOPMed,gnomAD
rs1238309242	p.Gly1461Ala	missense variant	-	NC_000010.11:g.68652515G>C	TOPMed
rs751788677	p.Ala1463Ser	missense variant	-	NC_000010.11:g.68652520G>T	ExAC,gnomAD
COSM919780	p.Ala1463Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68652520G>A	NCI-TCGA Cosmic
rs751788677	p.Ala1463Ser	missense variant	-	NC_000010.11:g.68652520G>T	NCI-TCGA,NCI-TCGA Cosmic
rs1215312388	p.Ile1464Val	missense variant	-	NC_000010.11:g.68652523A>G	gnomAD
rs755298802	p.Ile1466Met	missense variant	-	NC_000010.11:g.68652531A>G	ExAC,TOPMed,gnomAD
COSM1297383	p.Glu1467Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68652532G>A	NCI-TCGA Cosmic
rs1489607704	p.Ile1468Met	missense variant	-	NC_000010.11:g.68652537A>G	TOPMed,gnomAD
rs748296471	p.Val1470Ala	missense variant	-	NC_000010.11:g.68652542T>C	ExAC,gnomAD
rs781261477	p.Val1470Leu	missense variant	-	NC_000010.11:g.68652541G>C	ExAC,gnomAD
COSM1675307	p.Tyr1471Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68652545A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr1472Ser	missense variant	-	NC_000010.11:g.68652548C>G	NCI-TCGA
rs376648844	p.Thr1472Asn	missense variant	-	NC_000010.11:g.68652548C>A	ESP,ExAC,gnomAD
rs771994540	p.Gly1473Ser	missense variant	-	NC_000010.11:g.68652550G>A	ExAC,TOPMed,gnomAD
rs775491529	p.Lys1474Arg	missense variant	-	NC_000010.11:g.68652554A>G	ExAC,gnomAD
rs1351215230	p.Glu1475Gln	missense variant	-	NC_000010.11:g.68652556G>C	gnomAD
rs768403517	p.Ser1479Ala	missense variant	-	NC_000010.11:g.68652568T>G	ExAC,TOPMed,gnomAD
rs761418568	p.His1480Gln	missense variant	-	NC_000010.11:g.68652573T>G	ExAC,gnomAD
rs776116597	p.His1480Pro	missense variant	-	NC_000010.11:g.68652572A>C	ExAC,gnomAD
rs1222840301	p.His1480Tyr	missense variant	-	NC_000010.11:g.68652571C>T	gnomAD
COSM1297384	p.Pro1483Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68652580C>G	NCI-TCGA Cosmic
rs562629421	p.Ile1484Phe	missense variant	-	NC_000010.11:g.68652583A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs562629421	p.Ile1484Val	missense variant	-	NC_000010.11:g.68652583A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs776369213	p.Ser1493Gly	missense variant	-	NC_000010.11:g.68667060A>G	ExAC,gnomAD
rs1437098526	p.Asp1494Val	missense variant	-	NC_000010.11:g.68667064A>T	gnomAD
rs1310386469	p.Glu1495Ter	stop gained	-	NC_000010.11:g.68667066G>T	TOPMed
COSM3415204	p.Leu1499Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68667078C>A	NCI-TCGA Cosmic
rs772778761	p.Gln1504Arg	missense variant	-	NC_000010.11:g.68667094A>G	ExAC,gnomAD
rs1288019869	p.Arg1505His	missense variant	-	NC_000010.11:g.68667097G>A	NCI-TCGA Cosmic
rs1288019869	p.Arg1505His	missense variant	-	NC_000010.11:g.68667097G>A	TOPMed
COSM685562	p.Arg1505Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68667096C>T	NCI-TCGA Cosmic
rs762440589	p.Thr1506Ile	missense variant	-	NC_000010.11:g.68667100C>T	ExAC,TOPMed,gnomAD
rs774794843	p.Thr1512Ser	missense variant	-	NC_000010.11:g.68667117A>T	ExAC,gnomAD
rs1409894975	p.Met1515Thr	missense variant	-	NC_000010.11:g.68667127T>C	gnomAD
rs767712815	p.Val1517Ala	missense variant	-	NC_000010.11:g.68667133T>C	ExAC,gnomAD
rs1169034139	p.Val1517Met	missense variant	-	NC_000010.11:g.68667132G>A	gnomAD
rs1336518039	p.Met1520Thr	missense variant	-	NC_000010.11:g.68667142T>C	gnomAD
COSM919781	p.Asp1523GlyPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.68667151_68667152AT>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1524Asp	missense variant	-	NC_000010.11:g.68667154G>A	NCI-TCGA
NCI-TCGA novel	p.Ile1525Val	missense variant	-	NC_000010.11:g.68667156A>G	NCI-TCGA
rs1309043343	p.Pro1528Leu	missense variant	-	NC_000010.11:g.68667166C>T	TOPMed
rs764397228	p.Met1529Thr	missense variant	-	NC_000010.11:g.68667169T>C	ExAC,gnomAD
rs899074727	p.Met1529Val	missense variant	-	NC_000010.11:g.68667168A>G	TOPMed,gnomAD
rs144272090	p.Asp1531Asn	missense variant	-	NC_000010.11:g.68667174G>A	ESP,ExAC,TOPMed,gnomAD
rs1241056232	p.Arg1532Trp	missense variant	-	NC_000010.11:g.68667177C>T	NCI-TCGA Cosmic
rs780172713	p.Arg1532Gln	missense variant	-	NC_000010.11:g.68667178G>A	NCI-TCGA,NCI-TCGA Cosmic
rs780172713	p.Arg1532Gln	missense variant	-	NC_000010.11:g.68667178G>A	ExAC,TOPMed,gnomAD
rs1241056232	p.Arg1532Trp	missense variant	-	NC_000010.11:g.68667177C>T	gnomAD
NCI-TCGA novel	p.Thr1538Pro	missense variant	-	NC_000010.11:g.68667195A>C	NCI-TCGA
rs1156553899	p.Thr1538Ile	missense variant	-	NC_000010.11:g.68667196C>T	TOPMed
rs989840433	p.Asn1540Asp	missense variant	-	NC_000010.11:g.68667201A>G	TOPMed
rs1474170533	p.Lys1542Asn	missense variant	-	NC_000010.11:g.68667209G>T	gnomAD
rs968288079	p.His1547Gln	missense variant	-	NC_000010.11:g.68667224C>A	TOPMed,gnomAD
rs1404366633	p.Asp1550Asn	missense variant	-	NC_000010.11:g.68667231G>A	gnomAD
rs770375775	p.Thr1554Ile	missense variant	-	NC_000010.11:g.68667244C>T	ExAC,gnomAD
rs770375775	p.Thr1554Asn	missense variant	-	NC_000010.11:g.68667244C>A	ExAC,gnomAD
rs776044335	p.Arg1559His	missense variant	-	NC_000010.11:g.68672897G>A	ExAC,gnomAD
COSM919782	p.Arg1559Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68672896C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1565Ter	stop gained	-	NC_000010.11:g.68672914G>T	NCI-TCGA
rs1222366634	p.Ile1566Val	missense variant	-	NC_000010.11:g.68672917A>G	gnomAD
NCI-TCGA novel	p.Glu1569Gln	missense variant	-	NC_000010.11:g.68672926G>C	NCI-TCGA
rs1426282789	p.Thr1570Ala	missense variant	-	NC_000010.11:g.68672929A>G	TOPMed
NCI-TCGA novel	p.Trp1581Ter	stop gained	-	NC_000010.11:g.68672963G>A	NCI-TCGA
NCI-TCGA novel	p.Lys1589Thr	missense variant	-	NC_000010.11:g.68672987A>C	NCI-TCGA
NCI-TCGA novel	p.Gly1591Val	missense variant	-	NC_000010.11:g.68672993G>T	NCI-TCGA
rs1424143762	p.Gly1591Cys	missense variant	-	NC_000010.11:g.68672992G>T	gnomAD
rs1301412005	p.Arg1592Lys	missense variant	-	NC_000010.11:g.68672996G>A	gnomAD
COSM6130141	p.Ser1593Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68672999G>A	NCI-TCGA Cosmic
rs1398487509	p.Pro1594Ser	missense variant	-	NC_000010.11:g.68673001C>T	TOPMed,gnomAD
COSM268526	p.Pro1603Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68673028C>T	NCI-TCGA Cosmic
rs752626982	p.Pro1606Thr	missense variant	-	NC_000010.11:g.68673037C>A	ExAC,gnomAD
rs755912455	p.His1608Arg	missense variant	-	NC_000010.11:g.68673044A>G	ExAC,TOPMed,gnomAD
rs189954558	p.Lys1610Arg	missense variant	-	NC_000010.11:g.68681403A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs764225020	p.Asn1611ThrPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.68681400A>-	NCI-TCGA,NCI-TCGA Cosmic
rs140933489	p.Asp1614Gly	missense variant	-	NC_000010.11:g.68681415A>G	ESP,ExAC,TOPMed,gnomAD
rs1204580185	p.Leu1619Met	missense variant	-	NC_000010.11:g.68681429T>A	gnomAD
rs536711369	p.Arg1622Gln	missense variant	-	NC_000010.11:g.68681439G>A	1000Genomes,ExAC,gnomAD
rs536711369	p.Arg1622Gln	missense variant	-	NC_000010.11:g.68681439G>A	NCI-TCGA,NCI-TCGA Cosmic
rs373288968	p.Ile1626Val	missense variant	-	NC_000010.11:g.68681450A>G	ESP,ExAC,TOPMed,gnomAD
rs773351318	p.Gln1629Arg	missense variant	-	NC_000010.11:g.68681460A>G	TOPMed,gnomAD
rs184022882	p.Tyr1630Phe	missense variant	-	NC_000010.11:g.68681463A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs184022882	p.Tyr1630Cys	missense variant	-	NC_000010.11:g.68681463A>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM3439903	p.Pro1632Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68681468C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val1633Ala	missense variant	-	NC_000010.11:g.68681472T>C	NCI-TCGA
rs1431270172	p.Val1633Leu	missense variant	-	NC_000010.11:g.68681471G>T	gnomAD
rs781754078	p.Gln1636Glu	missense variant	-	NC_000010.11:g.68681480C>G	ExAC,gnomAD
COSM3439904	p.Gln1636Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68681480C>A	NCI-TCGA Cosmic
rs1214253206	p.Val1639Leu	missense variant	-	NC_000010.11:g.68682836G>C	TOPMed
NCI-TCGA novel	p.Glu1642Ter	stop gained	-	NC_000010.11:g.68682845G>T	NCI-TCGA
rs758127082	p.Val1644Ile	missense variant	-	NC_000010.11:g.68682851G>A	ExAC,TOPMed,gnomAD
rs1010032837	p.Arg1646Ter	stop gained	-	NC_000010.11:g.68682857C>T	TOPMed
rs376318364	p.Arg1646Gln	missense variant	-	NC_000010.11:g.68682858G>A	ESP,ExAC,TOPMed,gnomAD
rs755430373	p.Arg1649Gln	missense variant	-	NC_000010.11:g.68682867G>A	ExAC,gnomAD
rs755430373	p.Arg1649Gln	missense variant	-	NC_000010.11:g.68682867G>A	NCI-TCGA,NCI-TCGA Cosmic
rs779431306	p.Ser1652Arg	missense variant	-	NC_000010.11:g.68682877C>G	ExAC,gnomAD
rs1246294081	p.Gly1655Val	missense variant	-	NC_000010.11:g.68682885G>T	TOPMed
COSM327330	p.Arg1656Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68682887C>T	NCI-TCGA Cosmic
rs1480014276	p.Pro1657Ser	missense variant	-	NC_000010.11:g.68682890C>T	gnomAD
NCI-TCGA novel	p.Val1661Leu	missense variant	-	NC_000010.11:g.68682902G>C	NCI-TCGA
rs1432770444	p.Ile1675Val	missense variant	-	NC_000010.11:g.68682944A>G	TOPMed
rs1041882192	p.Asn1680Asp	missense variant	-	NC_000010.11:g.68682959A>G	TOPMed
rs200371130	p.Val1684Met	missense variant	-	NC_000010.11:g.68682971G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs760480014	p.Thr1687Ser	missense variant	-	NC_000010.11:g.68686363C>G	ExAC,TOPMed,gnomAD
rs769808628	p.Thr1689Ala	missense variant	-	NC_000010.11:g.68686368A>G	ExAC,gnomAD
rs1349186385	p.Arg1690Ter	stop gained	-	NC_000010.11:g.68686371C>T	TOPMed
rs1333809107	p.Arg1690Gln	missense variant	-	NC_000010.11:g.68686372G>A	gnomAD
rs1338741516	p.Glu1691Lys	missense variant	-	NC_000010.11:g.68686374G>A	TOPMed,gnomAD
rs1420167404	p.Asp1692Gly	missense variant	-	NC_000010.11:g.68686378A>G	TOPMed
rs772997622	p.Asp1692Asn	missense variant	-	NC_000010.11:g.68686377G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1694Cys	missense variant	-	NC_000010.11:g.68686383C>T	NCI-TCGA
rs1339691951	p.Arg1694His	missense variant	-	NC_000010.11:g.68686384G>A	gnomAD
rs1339691951	p.Arg1694His	missense variant	-	NC_000010.11:g.68686384G>A	NCI-TCGA Cosmic
rs1188922467	p.Ser1695Pro	missense variant	-	NC_000010.11:g.68686386T>C	TOPMed
rs762825169	p.Gly1697Ala	missense variant	-	NC_000010.11:g.68686393G>C	ExAC,gnomAD
rs762825169	p.Gly1697Asp	missense variant	-	NC_000010.11:g.68686393G>A	ExAC,gnomAD
rs1281698688	p.Gly1697Ser	missense variant	-	NC_000010.11:g.68686392G>A	gnomAD
rs770806511	p.Val1698Phe	missense variant	-	NC_000010.11:g.68686395G>T	ExAC,TOPMed,gnomAD
COSM3439905	p.Val1698Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68686395G>A	NCI-TCGA Cosmic
rs777560877	p.Pro1700Arg	missense variant	-	NC_000010.11:g.68686402C>G	ExAC,gnomAD
rs774147515	p.Pro1700Ser	missense variant	-	NC_000010.11:g.68686401C>T	ExAC,gnomAD
rs150383341	p.Asp1702Gly	missense variant	-	NC_000010.11:g.68686408A>G	1000Genomes
COSM1297385	p.Glu1703Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68686410G>A	NCI-TCGA Cosmic
COSM4015298	p.Gln1704Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.68686413C>T	NCI-TCGA Cosmic
rs138726459	p.Leu1705Phe	missense variant	-	NC_000010.11:g.68686416C>T	ESP,gnomAD
COSM76709	p.His1706Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68686421T>A	NCI-TCGA Cosmic
rs1215806938	p.Pro1709Leu	missense variant	-	NC_000010.11:g.68686429C>T	gnomAD
COSM270323	p.Pro1709His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68686429C>A	NCI-TCGA Cosmic
rs1477776685	p.Leu1710Phe	missense variant	-	NC_000010.11:g.68686431C>T	gnomAD
rs1431869672	p.Leu1713Phe	missense variant	-	NC_000010.11:g.68686440C>T	gnomAD
rs764685133	p.Asp1715Asn	missense variant	-	NC_000010.11:g.68686446G>A	ExAC,gnomAD
rs754260807	p.Asp1715Ala	missense variant	-	NC_000010.11:g.68686447A>C	ExAC,gnomAD
rs757623052	p.Asp1715Glu	missense variant	-	NC_000010.11:g.68686448C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr1716Ala	missense variant	-	NC_000010.11:g.68686449A>G	NCI-TCGA
rs367686516	p.Gly1720Ser	missense variant	-	NC_000010.11:g.68686461G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1721Cys	insertion	-	NC_000010.11:g.68686465_68686466insTTG	NCI-TCGA
NCI-TCGA novel	p.Lys1722ArgPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.68686467_68686468insGGCTTTCTCC	NCI-TCGA
rs141820172	p.Lys1722Arg	missense variant	-	NC_000010.11:g.68686468A>G	NCI-TCGA,NCI-TCGA Cosmic
rs141820172	p.Lys1722Arg	missense variant	-	NC_000010.11:g.68686468A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758685532	p.Lys1722Asn	missense variant	-	NC_000010.11:g.68686469G>C	ExAC,gnomAD
COSM919784	p.Lys1722Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68686469G>T	NCI-TCGA Cosmic
rs780106757	p.Glu1723Lys	missense variant	-	NC_000010.11:g.68686470G>A	ExAC,gnomAD
rs780106757	p.Glu1723Gln	missense variant	-	NC_000010.11:g.68686470G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly1724ArgPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.68686470_68686471insA	NCI-TCGA
rs768567302	p.Met1725Val	missense variant	-	NC_000010.11:g.68686476A>G	ExAC,gnomAD
rs1336296268	p.Glu1726Lys	missense variant	-	NC_000010.11:g.68686479G>A	TOPMed
rs749108361	p.Ile1729Met	missense variant	-	NC_000010.11:g.68686490C>G	ExAC,gnomAD
rs770859828	p.Lys1730Thr	missense variant	-	NC_000010.11:g.68686492A>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser1731Tyr	missense variant	-	NC_000010.11:g.68686495C>A	NCI-TCGA
rs774358704	p.Ile1734Phe	missense variant	-	NC_000010.11:g.68686503A>T	ExAC,TOPMed
rs1282920941	p.Glu1735Lys	missense variant	-	NC_000010.11:g.68686506G>A	TOPMed,gnomAD
rs1215052617	p.Leu1737Arg	missense variant	-	NC_000010.11:g.68686513T>G	gnomAD
rs1487048373	p.Leu1737Val	missense variant	-	NC_000010.11:g.68686512C>G	gnomAD
rs774959272	p.Pro1739Arg	missense variant	-	NC_000010.11:g.68686519C>G	ExAC,gnomAD
rs763447831	p.Arg1740His	missense variant	-	NC_000010.11:g.68686522G>A	ExAC,gnomAD
rs147119124	p.Arg1740Cys	missense variant	-	NC_000010.11:g.68686521C>T	ESP,ExAC,TOPMed,gnomAD
rs1471278863	p.Arg1741Cys	missense variant	-	NC_000010.11:g.68686524C>T	TOPMed,gnomAD
rs371499355	p.Arg1741Leu	missense variant	-	NC_000010.11:g.68686525G>T	ESP,ExAC,TOPMed,gnomAD
rs371499355	p.Arg1741His	missense variant	-	NC_000010.11:g.68686525G>A	ESP,ExAC,TOPMed,gnomAD
rs371499355	p.Arg1741His	missense variant	-	NC_000010.11:g.68686525G>A	NCI-TCGA,NCI-TCGA Cosmic
rs138459618	p.Lys1743Asn	missense variant	-	NC_000010.11:g.68686532A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1744LysPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.68686526_68686527insA	NCI-TCGA
rs750825133	p.Arg1744Gly	missense variant	-	NC_000010.11:g.68686533A>G	ExAC
COSM4015300	p.Arg1744Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68686534G>C	NCI-TCGA Cosmic
rs144991411	p.Thr1745Met	missense variant	-	NC_000010.11:g.68686537C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200642816	p.Cys1746Tyr	missense variant	-	NC_000010.11:g.68686540G>A	1000Genomes
NCI-TCGA novel	p.Gln1749HisPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.68686550G>-	NCI-TCGA
rs751689739	p.Gln1749Ter	stop gained	-	NC_000010.11:g.68686548C>T	ExAC,gnomAD
rs1321330172	p.Val1751Ile	missense variant	-	NC_000010.11:g.68686554G>A	gnomAD
rs755086264	p.Pro1752Leu	missense variant	-	NC_000010.11:g.68686558C>T	ExAC,gnomAD
rs1371245854	p.Arg1753Cys	missense variant	-	NC_000010.11:g.68686560C>T	gnomAD
rs1371245854	p.Arg1753Cys	missense variant	-	NC_000010.11:g.68686560C>T	NCI-TCGA Cosmic
rs1429461725	p.Arg1753His	missense variant	-	NC_000010.11:g.68686561G>A	TOPMed
NCI-TCGA novel	p.Gly1755Ala	missense variant	-	NC_000010.11:g.68686567G>C	NCI-TCGA
rs1192292310	p.Gly1755Val	missense variant	-	NC_000010.11:g.68686567G>T	TOPMed
rs1308125093	p.Gly1755Arg	missense variant	-	NC_000010.11:g.68686566G>A	gnomAD
rs893725658	p.Lys1757Arg	missense variant	-	NC_000010.11:g.68686573A>G	gnomAD
rs781070947	p.Arg1758Ser	missense variant	-	NC_000010.11:g.68686577G>C	ExAC,TOPMed,gnomAD
rs757304626	p.Ala1759Pro	missense variant	-	NC_000010.11:g.68686578G>C	ExAC,TOPMed,gnomAD
rs374692138	p.Ala1760Val	missense variant	-	NC_000010.11:g.68686582C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1764Lys	missense variant	-	NC_000010.11:g.68686593G>A	NCI-TCGA
NCI-TCGA novel	p.Glu1764Asp	missense variant	-	NC_000010.11:g.68686595G>T	NCI-TCGA
rs1265692120	p.Glu1764Gly	missense variant	-	NC_000010.11:g.68686594A>G	gnomAD
rs886762862	p.Ala1767Val	missense variant	-	NC_000010.11:g.68686603C>T	TOPMed,gnomAD
rs771725688	p.Ala1767Thr	missense variant	-	NC_000010.11:g.68686602G>A	ExAC,gnomAD
NCI-TCGA novel	p.His1768Arg	missense variant	-	NC_000010.11:g.68686606A>G	NCI-TCGA
rs1311387579	p.Ile1770Leu	missense variant	-	NC_000010.11:g.68686611A>T	TOPMed
rs200182540	p.Glu1774Gln	missense variant	-	NC_000010.11:g.68686623G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1371558971	p.Pro1777Ser	missense variant	-	NC_000010.11:g.68686632C>T	TOPMed
rs768342284	p.Pro1777Leu	missense variant	-	NC_000010.11:g.68686633C>T	ExAC,TOPMed,gnomAD
rs539035050	p.Ile1778Met	missense variant	-	NC_000010.11:g.68686637T>G	ExAC,TOPMed,gnomAD
rs1161437530	p.Pro1779Leu	missense variant	-	NC_000010.11:g.68686639C>T	gnomAD
rs557747751	p.Arg1780Gln	missense variant	-	NC_000010.11:g.68686642G>A	NCI-TCGA
rs557747751	p.Arg1780Gln	missense variant	-	NC_000010.11:g.68686642G>A	gnomAD
COSM3867659	p.Arg1780Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.68686641C>T	NCI-TCGA Cosmic
rs1169844402	p.Ile1781Met	missense variant	-	NC_000010.11:g.68686646C>G	TOPMed
rs763336290	p.Arg1783Leu	missense variant	-	NC_000010.11:g.68686651G>T	ExAC,TOPMed,gnomAD
rs558226101	p.Arg1783Trp	missense variant	-	NC_000010.11:g.68686650C>T	1000Genomes,ExAC,gnomAD
rs763336290	p.Arg1783Gln	missense variant	-	NC_000010.11:g.68686651G>A	ExAC,TOPMed,gnomAD
rs1454252323	p.Lys1784Asn	missense variant	-	NC_000010.11:g.68686655G>T	TOPMed,gnomAD
rs1454252323	p.Lys1784Asn	missense variant	-	NC_000010.11:g.68686655G>T	NCI-TCGA Cosmic
rs766583244	p.Thr1788Ala	missense variant	-	NC_000010.11:g.68686665A>G	ExAC,gnomAD
rs373954825	p.Thr1789Ile	missense variant	-	NC_000010.11:g.68686669C>T	ESP,ExAC,TOPMed,gnomAD
rs1033862403	p.Thr1790Ala	missense variant	-	NC_000010.11:g.68686671A>G	TOPMed
NCI-TCGA novel	p.Asn1791Tyr	missense variant	-	NC_000010.11:g.68686674A>T	NCI-TCGA
rs372349269	p.Asn1791Ser	missense variant	-	NC_000010.11:g.68686675A>G	ESP,ExAC,TOPMed,gnomAD
rs767752800	p.Asn1792Asp	missense variant	-	NC_000010.11:g.68686677A>G	ExAC,TOPMed
rs73262462	p.Ser1793Asn	missense variant	-	NC_000010.11:g.68686681G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs182383923	p.Ser1793Gly	missense variant	-	NC_000010.11:g.68686680A>G	1000Genomes,ExAC,gnomAD
rs779028252	p.Lys1794Gln	missense variant	-	NC_000010.11:g.68686683A>C	ExAC
rs745401695	p.Pro1795Leu	missense variant	-	NC_000010.11:g.68686687C>T	TOPMed,gnomAD
rs745401695	p.Pro1795His	missense variant	-	NC_000010.11:g.68686687C>A	TOPMed,gnomAD
rs1256923120	p.Pro1795Ala	missense variant	-	NC_000010.11:g.68686686C>G	gnomAD
COSM919785	p.Ser1796Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68686690C>T	NCI-TCGA Cosmic
rs753954083	p.Ser1803Arg	missense variant	-	NC_000010.11:g.68690812T>A	ExAC,gnomAD
rs758335300	p.Asn1804Ile	missense variant	-	NC_000010.11:g.68690814A>T	ExAC,gnomAD
COSM919786	p.Asn1804Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68690814A>G	NCI-TCGA Cosmic
rs751360035	p.Thr1805Ser	missense variant	-	NC_000010.11:g.68690817C>G	ExAC,gnomAD
rs754751969	p.Glu1806Ala	missense variant	-	NC_000010.11:g.68690820A>C	ExAC,gnomAD
rs1015969210	p.Thr1807Ala	missense variant	-	NC_000010.11:g.68690822A>G	TOPMed,gnomAD
rs150708897	p.Val1808Leu	missense variant	-	NC_000010.11:g.68690825G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748823854	p.Val1808Ala	missense variant	-	NC_000010.11:g.68690826T>C	ExAC,gnomAD
rs150708897	p.Val1808Met	missense variant	-	NC_000010.11:g.68690825G>A	NCI-TCGA,NCI-TCGA Cosmic
rs150708897	p.Val1808Met	missense variant	-	NC_000010.11:g.68690825G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1339129070	p.Gln1809Lys	missense variant	-	NC_000010.11:g.68690828C>A	gnomAD
rs771394399	p.Pro1810Ser	missense variant	-	NC_000010.11:g.68690831C>T	ExAC,gnomAD
COSM1474719	p.Pro1810Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68690832C>G	NCI-TCGA Cosmic
rs774876884	p.Glu1815Lys	missense variant	-	NC_000010.11:g.68690846G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr1816Ser	missense variant	-	NC_000010.11:g.68690849A>T	NCI-TCGA
rs1202067026	p.Thr1816Ile	missense variant	-	NC_000010.11:g.68690850C>T	TOPMed
rs759851979	p.Glu1817Lys	missense variant	-	NC_000010.11:g.68690852G>A	ExAC,gnomAD
rs1488687547	p.Pro1818Thr	missense variant	-	NC_000010.11:g.68690855C>A	gnomAD
rs772501728	p.Pro1818His	missense variant	-	NC_000010.11:g.68690856C>A	ExAC,gnomAD
rs772501728	p.Pro1818Leu	missense variant	-	NC_000010.11:g.68690856C>T	ExAC,gnomAD
rs761037648	p.Ser1824Arg	missense variant	-	NC_000010.11:g.68690875T>G	ExAC,gnomAD
rs775869833	p.Ser1824Ile	missense variant	-	NC_000010.11:g.68690874G>T	ExAC,gnomAD
COSM919787	p.Ser1824Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68690873A>C	NCI-TCGA Cosmic
rs775869833	p.Ser1824Ile	missense variant	-	NC_000010.11:g.68690874G>T	NCI-TCGA
rs747878740	p.Ser1825Leu	missense variant	-	NC_000010.11:g.68690877C>T	ExAC,gnomAD
COSM6066572	p.Ser1825Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.68690877C>G	NCI-TCGA Cosmic
rs761725017	p.Asp1826Glu	missense variant	-	NC_000010.11:g.68690881C>G	ExAC,TOPMed,gnomAD
rs1431081080	p.Asn1827Asp	missense variant	-	NC_000010.11:g.68690882A>G	gnomAD
rs766249705	p.Asn1827Lys	missense variant	-	NC_000010.11:g.68690884C>A	ExAC,TOPMed,gnomAD
COSM1317439	p.Thr1830Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68690892C>T	NCI-TCGA Cosmic
rs751472174	p.Tyr1831Asn	missense variant	-	NC_000010.11:g.68690894T>A	ExAC,gnomAD
rs771857626	p.Ser1832Leu	missense variant	-	NC_000010.11:g.68690898C>T	ExAC,TOPMed,gnomAD
rs771857626	p.Ser1832Leu	missense variant	-	NC_000010.11:g.68690898C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1407308655	p.Met1834Val	missense variant	-	NC_000010.11:g.68690903A>G	gnomAD
rs139111190	p.Met1834Lys	missense variant	-	NC_000010.11:g.68690904T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748773901	p.Pro1835Leu	missense variant	-	NC_000010.11:g.68690907C>T	ExAC,TOPMed,gnomAD
rs770438563	p.Ser1836Thr	missense variant	-	NC_000010.11:g.68690909T>A	ExAC,gnomAD
rs146039331	p.Ala1837Thr	missense variant	-	NC_000010.11:g.68690912G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146039331	p.Ala1837Thr	missense variant	-	NC_000010.11:g.68690912G>A	NCI-TCGA,NCI-TCGA Cosmic
rs146039331	p.Ala1837Ser	missense variant	-	NC_000010.11:g.68690912G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776066077	p.His1839Gln	missense variant	-	NC_000010.11:g.68690920C>A	ExAC,gnomAD
rs1337548000	p.His1839Tyr	missense variant	-	NC_000010.11:g.68690918C>T	TOPMed
rs62638665	p.Lys1842Asn	missense variant	-	NC_000010.11:g.68690929A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368896189	p.Ala1844Val	missense variant	-	NC_000010.11:g.68690934C>T	ESP,ExAC,TOPMed,gnomAD
rs1404221440	p.Pro1846Ser	missense variant	-	NC_000010.11:g.68690939C>T	NCI-TCGA
rs1404221440	p.Pro1846Ser	missense variant	-	NC_000010.11:g.68690939C>T	TOPMed
COSM129663	p.Pro1846Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68690940C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser1849Phe	missense variant	-	NC_000010.11:g.68690949C>T	NCI-TCGA
rs1288611938	p.Trp1850Cys	missense variant	-	NC_000010.11:g.68690953G>T	gnomAD
rs576727317	p.Pro1852Leu	missense variant	-	NC_000010.11:g.68690958C>T	gnomAD
rs1438704773	p.Thr1854Pro	missense variant	-	NC_000010.11:g.68690963A>C	gnomAD
COSM1492296	p.Thr1854Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68690963A>G	NCI-TCGA Cosmic
rs1176165679	p.Ser1856Pro	missense variant	-	NC_000010.11:g.68690969T>C	gnomAD
rs149731226	p.Ser1856Leu	missense variant	-	NC_000010.11:g.68690970C>T	ESP,gnomAD
rs765293990	p.Thr1858Ile	missense variant	-	NC_000010.11:g.68690976C>T	ExAC,TOPMed,gnomAD
rs1407564402	p.Thr1858Ala	missense variant	-	NC_000010.11:g.68690975A>G	gnomAD
rs774165175	p.Pro1859Ala	missense variant	-	NC_000010.11:g.68690978C>G	ExAC,TOPMed,gnomAD
rs1300290482	p.Pro1859Leu	missense variant	-	NC_000010.11:g.68690979C>T	gnomAD
rs774165175	p.Pro1859Ser	missense variant	-	NC_000010.11:g.68690978C>T	ExAC,TOPMed,gnomAD
COSM4015303	p.Ala1860Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68690981G>C	NCI-TCGA Cosmic
rs1377853026	p.Leu1862Arg	missense variant	-	NC_000010.11:g.68690988T>G	gnomAD
rs767435262	p.Ala1866Thr	missense variant	-	NC_000010.11:g.68690999G>A	ExAC,TOPMed,gnomAD
rs752525372	p.Ala1866Val	missense variant	-	NC_000010.11:g.68691000C>T	ExAC,gnomAD
rs767435262	p.Ala1866Ser	missense variant	-	NC_000010.11:g.68690999G>T	ExAC,TOPMed,gnomAD
rs767435262	p.Ala1866Pro	missense variant	-	NC_000010.11:g.68690999G>C	ExAC,TOPMed,gnomAD
rs755857428	p.Ala1868Val	missense variant	-	NC_000010.11:g.68691006C>T	ExAC,gnomAD
rs1206279895	p.Ser1869Pro	missense variant	-	NC_000010.11:g.68691008T>C	gnomAD
rs756735294	p.Cys1870Ter	stop gained	-	NC_000010.11:g.68691013C>A	ExAC,TOPMed,gnomAD
rs1196438709	p.Gly1871Arg	missense variant	-	NC_000010.11:g.68691014G>A	TOPMed,gnomAD
rs778543479	p.Gly1871Glu	missense variant	-	NC_000010.11:g.68691015G>A	ExAC,TOPMed,gnomAD
rs778543479	p.Gly1871Ala	missense variant	-	NC_000010.11:g.68691015G>C	ExAC,TOPMed,gnomAD
rs778543479	p.Gly1871Val	missense variant	-	NC_000010.11:g.68691015G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1877Ile	missense variant	-	NC_000010.11:g.68691033G>T	NCI-TCGA
rs1180807160	p.Thr1878Ile	missense variant	-	NC_000010.11:g.68691036C>T	gnomAD
rs201665550	p.Pro1879Leu	missense variant	-	NC_000010.11:g.68691039C>T	ExAC,TOPMed,gnomAD
rs201665550	p.Pro1879His	missense variant	-	NC_000010.11:g.68691039C>A	ExAC,TOPMed,gnomAD
rs201665550	p.Pro1879Leu	missense variant	-	NC_000010.11:g.68691039C>T	NCI-TCGA,NCI-TCGA Cosmic
rs759636615	p.Thr1882Met	missense variant	-	NC_000010.11:g.68691048C>T	NCI-TCGA
rs759636615	p.Thr1882Arg	missense variant	-	NC_000010.11:g.68691048C>G	ExAC,TOPMed,gnomAD
rs759636615	p.Thr1882Met	missense variant	-	NC_000010.11:g.68691048C>T	ExAC,TOPMed,gnomAD
rs1310019216	p.Met1883Lys	missense variant	-	NC_000010.11:g.68691051T>A	TOPMed
NCI-TCGA novel	p.Ser1885Pro	missense variant	-	NC_000010.11:g.68691056T>C	NCI-TCGA
rs776722537	p.Ser1885Leu	missense variant	-	NC_000010.11:g.68691057C>T	ExAC,TOPMed,gnomAD
rs773405384	p.Gly1886Arg	missense variant	-	NC_000010.11:g.68691059G>C	ExAC,TOPMed,gnomAD
rs773405384	p.Gly1886Arg	missense variant	-	NC_000010.11:g.68691059G>A	ExAC,TOPMed,gnomAD
rs944896286	p.Arg1887Lys	missense variant	-	NC_000010.11:g.68691063G>A	NCI-TCGA
rs1361144444	p.Arg1887Gly	missense variant	-	NC_000010.11:g.68691062A>G	TOPMed,gnomAD
rs944896286	p.Arg1887Lys	missense variant	-	NC_000010.11:g.68691063G>A	-
rs762986035	p.Ser1889Gly	missense variant	-	NC_000010.11:g.68691068A>G	ExAC,gnomAD
rs767467938	p.Gly1890Ser	missense variant	-	NC_000010.11:g.68691071G>A	ExAC,gnomAD
rs775369384	p.Ala1891Thr	missense variant	-	NC_000010.11:g.68691074G>A	ExAC,gnomAD
rs760471820	p.Asn1892Ser	missense variant	-	NC_000010.11:g.68691078A>G	ExAC,TOPMed,gnomAD
rs760471820	p.Asn1892Thr	missense variant	-	NC_000010.11:g.68691078A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1896Thr	missense variant	-	NC_000010.11:g.68691089G>A	NCI-TCGA
rs1039140376	p.Ala1896Val	missense variant	-	NC_000010.11:g.68691090C>T	gnomAD
rs763895885	p.Asp1897Val	missense variant	-	NC_000010.11:g.68691093A>T	ExAC,TOPMed,gnomAD
rs763895885	p.Asp1897Gly	missense variant	-	NC_000010.11:g.68691093A>G	ExAC,TOPMed,gnomAD
COSM6066571	p.Gly1900Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691101G>T	NCI-TCGA Cosmic
rs142358697	p.Ile1901Val	missense variant	-	NC_000010.11:g.68691104A>G	ESP,ExAC,TOPMed,gnomAD
COSM3985703	p.Ile1901Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691105T>G	NCI-TCGA Cosmic
rs1235249445	p.Gln1903Lys	missense variant	-	NC_000010.11:g.68691110C>A	TOPMed,gnomAD
rs1196528535	p.Gly1905Asp	missense variant	-	NC_000010.11:g.68691117G>A	TOPMed,gnomAD
rs757931991	p.Glu1906Lys	missense variant	-	NC_000010.11:g.68691119G>A	ExAC,gnomAD
rs1169009477	p.Val1907Met	missense variant	-	NC_000010.11:g.68691122G>A	TOPMed,gnomAD
rs200074832	p.Ala1908Ser	missense variant	-	NC_000010.11:g.68691125G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3439910	p.Leu1910Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691131C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr1912HisPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.68691132_68691133insC	NCI-TCGA
rs781661899	p.Thr1912Pro	missense variant	-	NC_000010.11:g.68691137A>C	ExAC,gnomAD
rs781661899	p.Thr1912Ala	missense variant	-	NC_000010.11:g.68691137A>G	ExAC,gnomAD
rs1276412429	p.Ser1914Pro	missense variant	-	NC_000010.11:g.68691143T>C	gnomAD
rs777832634	p.Ala1915Pro	missense variant	-	NC_000010.11:g.68691146G>C	ExAC,gnomAD
rs369296547	p.Ala1915Gly	missense variant	-	NC_000010.11:g.68691147C>G	ESP,TOPMed
rs1447478334	p.Pro1916Ser	missense variant	-	NC_000010.11:g.68691149C>T	TOPMed
rs1275866035	p.Met1918Val	missense variant	-	NC_000010.11:g.68691155A>G	TOPMed,gnomAD
rs749405322	p.Glu1919Asp	missense variant	-	NC_000010.11:g.68691160G>T	ExAC,gnomAD
rs770933943	p.Pro1920Ser	missense variant	-	NC_000010.11:g.68691161C>T	ExAC,TOPMed,gnomAD
rs770933943	p.Pro1920Thr	missense variant	-	NC_000010.11:g.68691161C>A	ExAC,TOPMed,gnomAD
rs770933943	p.Pro1920Ala	missense variant	-	NC_000010.11:g.68691161C>G	ExAC,TOPMed,gnomAD
rs768475374	p.Ile1922Val	missense variant	-	NC_000010.11:g.68691167A>G	ExAC,gnomAD
rs1248884475	p.Asn1923Thr	missense variant	-	NC_000010.11:g.68691171A>C	gnomAD
rs761492822	p.Ser1924Cys	missense variant	-	NC_000010.11:g.68691174C>G	ExAC,gnomAD
rs867902572	p.Pro1926Ser	missense variant	-	NC_000010.11:g.68691179C>T	-
rs867902572	p.Pro1926Ser	missense variant	-	NC_000010.11:g.68691179C>T	NCI-TCGA
rs750055812	p.Ser1927Cys	missense variant	-	NC_000010.11:g.68691183C>G	ExAC,gnomAD
rs775684043	p.Gly1929Cys	missense variant	-	NC_000010.11:g.68691188G>T	gnomAD
rs765929366	p.Pro1933Leu	missense variant	-	NC_000010.11:g.68691201C>T	NCI-TCGA,NCI-TCGA Cosmic
rs765929366	p.Pro1933Leu	missense variant	-	NC_000010.11:g.68691201C>T	ExAC,gnomAD
rs540373976	p.Thr1935Met	missense variant	-	NC_000010.11:g.68691207C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs540373976	p.Thr1935Met	missense variant	-	NC_000010.11:g.68691207C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1331517105	p.Pro1936Leu	missense variant	-	NC_000010.11:g.68691210C>T	gnomAD
rs1435269138	p.His1937Tyr	missense variant	-	NC_000010.11:g.68691212C>T	gnomAD
rs781517424	p.Pro1939Gln	missense variant	-	NC_000010.11:g.68691219C>A	ExAC,gnomAD
rs781517424	p.Pro1939Leu	missense variant	-	NC_000010.11:g.68691219C>T	ExAC,gnomAD
rs1240164579	p.His1941Arg	missense variant	-	NC_000010.11:g.68691225A>G	gnomAD
rs756396686	p.His1941Tyr	missense variant	-	NC_000010.11:g.68691224C>T	ExAC,TOPMed,gnomAD
rs560194393	p.Gln1942Arg	missense variant	-	NC_000010.11:g.68691228A>G	1000Genomes,ExAC,gnomAD
rs1423301146	p.Leu1946Phe	missense variant	-	NC_000010.11:g.68691239C>T	TOPMed
rs771132327	p.Leu1946Pro	missense variant	-	NC_000010.11:g.68691240T>C	ExAC,gnomAD
rs1386503170	p.Thr1947Ile	missense variant	-	NC_000010.11:g.68691243C>T	TOPMed
rs768689742	p.Ser1948Cys	missense variant	-	NC_000010.11:g.68691246C>G	ExAC,TOPMed,gnomAD
rs745916598	p.Ser1948Pro	missense variant	-	NC_000010.11:g.68691245T>C	ExAC,gnomAD
rs1416995594	p.Gln1950Glu	missense variant	-	NC_000010.11:g.68691251C>G	TOPMed
rs776385632	p.Asp1951Tyr	missense variant	-	NC_000010.11:g.68691254G>T	ExAC,TOPMed,gnomAD
rs1478056231	p.Leu1952Phe	missense variant	-	NC_000010.11:g.68691257C>T	TOPMed
rs907260920	p.Ala1953Ser	missense variant	-	NC_000010.11:g.68691260G>T	TOPMed
rs1490824035	p.Ser1954Phe	missense variant	-	NC_000010.11:g.68691264C>T	TOPMed
rs1307117069	p.Met1957Thr	missense variant	-	NC_000010.11:g.68691273T>C	TOPMed
rs147755307	p.Met1957Val	missense variant	-	NC_000010.11:g.68691272A>G	ESP,ExAC,TOPMed,gnomAD
rs1391402453	p.Glu1959Gly	missense variant	-	NC_000010.11:g.68691279A>G	gnomAD
rs377757212	p.Glu1959Lys	missense variant	-	NC_000010.11:g.68691278G>A	ESP,ExAC,TOPMed,gnomAD
rs1216686094	p.Asp1960Val	missense variant	-	NC_000010.11:g.68691282A>T	TOPMed
rs1343873254	p.Ser1964Phe	missense variant	-	NC_000010.11:g.68691294C>T	gnomAD
rs1343873254	p.Ser1964Phe	missense variant	-	NC_000010.11:g.68691294C>T	NCI-TCGA
rs542433082	p.Ala1966Val	missense variant	-	NC_000010.11:g.68691300C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Asp1967Gly	missense variant	-	NC_000010.11:g.68691303A>G	NCI-TCGA
rs751150319	p.Glu1968Lys	missense variant	-	NC_000010.11:g.68691305G>A	ExAC,gnomAD
rs150437059	p.Glu1968Asp	missense variant	-	NC_000010.11:g.68691307G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1237482244	p.Pro1969Ser	missense variant	-	NC_000010.11:g.68691308C>T	gnomAD
rs1357706200	p.Ser1971Pro	missense variant	-	NC_000010.11:g.68691314T>C	gnomAD
rs181081228	p.Asp1972Glu	missense variant	-	NC_000010.11:g.68691319C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1973Gly	missense variant	-	NC_000010.11:g.68691321A>G	NCI-TCGA
rs754200525	p.Pro1974Leu	missense variant	-	NC_000010.11:g.68691324C>T	ExAC,gnomAD
rs757512001	p.Leu1975Arg	missense variant	-	NC_000010.11:g.68691327T>G	ExAC
NCI-TCGA novel	p.Ser1976Phe	missense variant	-	NC_000010.11:g.68691330C>T	NCI-TCGA
rs1199571965	p.Asp1978Glu	missense variant	-	NC_000010.11:g.68691337C>A	gnomAD
rs1437860546	p.Ser1981Leu	missense variant	-	NC_000010.11:g.68691345C>T	gnomAD
rs943388997	p.Pro1982Ser	missense variant	-	NC_000010.11:g.68691347C>T	TOPMed,gnomAD
rs745972467	p.Glu1985Gln	missense variant	-	NC_000010.11:g.68691356G>C	ExAC,gnomAD
rs1472426406	p.Glu1985Gly	missense variant	-	NC_000010.11:g.68691357A>G	gnomAD
rs781192453	p.Leu1987Trp	missense variant	-	NC_000010.11:g.68691363T>G	ExAC,gnomAD
COSM3439911	p.Leu1987Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691363T>C	NCI-TCGA Cosmic
rs769757590	p.Asp1991Asn	missense variant	-	NC_000010.11:g.68691374G>A	ExAC
rs150233567	p.Glu1992Lys	missense variant	-	NC_000010.11:g.68691377G>A	ESP,TOPMed,gnomAD
rs564186545	p.Ser1997Asn	missense variant	-	NC_000010.11:g.68691393G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs564186545	p.Ser1997Thr	missense variant	-	NC_000010.11:g.68691393G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs759092814	p.His1999Pro	missense variant	-	NC_000010.11:g.68691399A>C	ExAC,gnomAD
COSM919788	p.His1999Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691399A>T	NCI-TCGA Cosmic
rs1223489717	p.Ile2000Val	missense variant	-	NC_000010.11:g.68691401A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Leu2002TrpPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.68691404T>-	NCI-TCGA
COSM6066570	p.Asp2003Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691410G>T	NCI-TCGA Cosmic
rs775056557	p.Ile2006Val	missense variant	-	NC_000010.11:g.68691419A>G	ExAC,gnomAD
rs933289259	p.Ala2010Thr	missense variant	-	NC_000010.11:g.68691431G>A	TOPMed,gnomAD
rs1257610194	p.Ile2011Val	missense variant	-	NC_000010.11:g.68691434A>G	TOPMed,gnomAD
rs1202179982	p.Ala2012Thr	missense variant	-	NC_000010.11:g.68691437G>A	NCI-TCGA Cosmic
rs1202179982	p.Ala2012Thr	missense variant	-	NC_000010.11:g.68691437G>A	gnomAD
NCI-TCGA novel	p.Ala2014Ser	missense variant	-	NC_000010.11:g.68691443G>T	NCI-TCGA
rs1441753288	p.Ala2014Gly	missense variant	-	NC_000010.11:g.68691444C>G	gnomAD
NCI-TCGA novel	p.Ala2023ProPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.68691466_68691467GT>-	NCI-TCGA
COSM72946	p.Ala2023Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691470G>A	NCI-TCGA Cosmic
rs1169730805	p.Arg2024Gln	missense variant	-	NC_000010.11:g.68691474G>A	gnomAD
rs1222112424	p.Arg2024Trp	missense variant	-	NC_000010.11:g.68691473C>T	TOPMed
rs1169730805	p.Arg2024Gln	missense variant	-	NC_000010.11:g.68691474G>A	NCI-TCGA Cosmic
rs368275418	p.Arg2025Ter	stop gained	-	NC_000010.11:g.68691476C>T	ESP,ExAC,TOPMed,gnomAD
rs1467264884	p.Arg2025Gln	missense variant	-	NC_000010.11:g.68691477G>A	gnomAD
COSM919789	p.Ala2029Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691488G>A	NCI-TCGA Cosmic
rs1404939255	p.Pro2032His	missense variant	-	NC_000010.11:g.68691498C>A	TOPMed
rs137872013	p.Glu2034Gln	missense variant	-	NC_000010.11:g.68691503G>C	ESP,ExAC,TOPMed,gnomAD
rs551446004	p.Glu2034Asp	missense variant	-	NC_000010.11:g.68691505G>C	ExAC,gnomAD
rs1378130070	p.His2035Gln	missense variant	-	NC_000010.11:g.68691508C>A	TOPMed
rs770806832	p.His2035Pro	missense variant	-	NC_000010.11:g.68691507A>C	ExAC,gnomAD
rs1305975623	p.Asn2037Ser	missense variant	-	NC_000010.11:g.68691513A>G	gnomAD
NCI-TCGA novel	p.Arg2038Cys	missense variant	-	NC_000010.11:g.68691515C>T	NCI-TCGA
COSM4015307	p.Arg2038His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691516G>A	NCI-TCGA Cosmic
rs1235768778	p.Asn2039Ser	missense variant	-	NC_000010.11:g.68691519A>G	TOPMed,gnomAD
rs745567592	p.Thr2042Pro	missense variant	-	NC_000010.11:g.68691527A>C	ExAC,gnomAD
rs1175161157	p.Thr2042Ile	missense variant	-	NC_000010.11:g.68691528C>T	gnomAD
rs771754741	p.Arg2043His	missense variant	-	NC_000010.11:g.68691531G>A	ExAC,TOPMed
NCI-TCGA novel	p.Phe2048Tyr	missense variant	-	NC_000010.11:g.68691546T>A	NCI-TCGA
NCI-TCGA novel	p.Phe2048Ile	missense variant	-	NC_000010.11:g.68691545T>A	NCI-TCGA
COSM3439913	p.Phe2048Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691545T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn2053ThrPheSerTerUnk	frameshift	-	NC_000010.11:g.68691557A>-	NCI-TCGA
VAR_080763	p.Lys2056Asn	Missense	-	-	UniProt
NCI-TCGA novel	p.Gln2058Lys	missense variant	-	NC_000010.11:g.68691575C>A	NCI-TCGA
rs1242813274	p.Leu2063Ile	missense variant	-	NC_000010.11:g.68691590C>A	TOPMed
rs1202151808	p.Asn2064Ser	missense variant	-	NC_000010.11:g.68691594A>G	TOPMed
NCI-TCGA novel	p.Lys2065Met	missense variant	-	NC_000010.11:g.68691597A>T	NCI-TCGA
NCI-TCGA novel	p.Lys2065Arg	missense variant	-	NC_000010.11:g.68691597A>G	NCI-TCGA
NCI-TCGA novel	p.Glu2069Gln	missense variant	-	NC_000010.11:g.68691608G>C	NCI-TCGA
NCI-TCGA novel	p.Glu2069Ter	stop gained	-	NC_000010.11:g.68691608G>T	NCI-TCGA
rs1259480961	p.Glu2069Lys	missense variant	-	NC_000010.11:g.68691608G>A	gnomAD
rs1421273906	p.Ala2070Thr	missense variant	-	NC_000010.11:g.68691611G>A	gnomAD
rs777084272	p.Ala2073Gly	missense variant	-	NC_000010.11:g.68691621C>G	ExAC,gnomAD
rs1256954998	p.Ala2073Thr	missense variant	-	NC_000010.11:g.68691620G>A	TOPMed
rs936281851	p.Asn2075Thr	missense variant	-	NC_000010.11:g.68691627A>C	TOPMed
rs183627556	p.Asn2075Asp	missense variant	-	NC_000010.11:g.68691626A>G	1000Genomes,ExAC,gnomAD
rs1376745186	p.Asn2075Lys	missense variant	-	NC_000010.11:g.68691628T>A	gnomAD
rs1464062021	p.Lys2077Asn	missense variant	-	NC_000010.11:g.68691634A>C	gnomAD
rs1055104971	p.Met2078Arg	missense variant	-	NC_000010.11:g.68691636T>G	TOPMed,gnomAD
rs1055104971	p.Met2078Thr	missense variant	-	NC_000010.11:g.68691636T>C	TOPMed,gnomAD
COSM1348720	p.Lys2079Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691640G>T	NCI-TCGA Cosmic
rs1308468822	p.Asp2085Gly	missense variant	-	NC_000010.11:g.68691657A>G	TOPMed
rs1420903014	p.Gln2086Glu	missense variant	-	NC_000010.11:g.68691659C>G	gnomAD
rs1446935834	p.Ala2087Val	missense variant	-	NC_000010.11:g.68691663C>T	TOPMed
rs1297955030	p.Ala2088Pro	missense variant	-	NC_000010.11:g.68691665G>C	gnomAD
rs1360370326	p.Ala2088Gly	missense variant	-	NC_000010.11:g.68691666C>G	gnomAD
rs765526444	p.Glu2090Lys	missense variant	-	NC_000010.11:g.68691671G>A	ExAC,gnomAD
rs946056539	p.Glu2090Ala	missense variant	-	NC_000010.11:g.68691672A>C	TOPMed
rs1330768503	p.Gly2091Asp	missense variant	-	NC_000010.11:g.68691675G>A	gnomAD
rs750784915	p.Pro2092Ser	missense variant	-	NC_000010.11:g.68691677C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu2093Gln	missense variant	-	NC_000010.11:g.68691680G>C	NCI-TCGA
rs1354323135	p.Glu2093Gly	missense variant	-	NC_000010.11:g.68691681A>G	gnomAD
rs142389966	p.Glu2093Lys	missense variant	-	NC_000010.11:g.68691680G>A	ESP,ExAC,TOPMed,gnomAD
rs1215879489	p.Ser2096Cys	missense variant	-	NC_000010.11:g.68691690C>G	gnomAD
NCI-TCGA novel	p.Val2098Ile	missense variant	-	NC_000010.11:g.68691695G>A	NCI-TCGA
rs1489365252	p.Glu2100Ala	missense variant	-	NC_000010.11:g.68691702A>C	gnomAD
NCI-TCGA novel	p.Gln2103Ter	stop gained	-	NC_000010.11:g.68691710C>T	NCI-TCGA
rs1191579461	p.Gln2103Arg	missense variant	-	NC_000010.11:g.68691711A>G	gnomAD
rs751636336	p.Ile2104Val	missense variant	-	NC_000010.11:g.68691713A>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro2105Thr	missense variant	-	NC_000010.11:g.68691716C>A	NCI-TCGA
COSM4989993	p.Pro2105Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691716C>T	NCI-TCGA Cosmic
rs1468649418	p.His2107Arg	missense variant	-	NC_000010.11:g.68691723A>G	gnomAD
COSM1348721	p.Ala2109Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691729C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu2112Val	missense variant	-	NC_000010.11:g.68691737T>G	NCI-TCGA
rs777880733	p.Thr2113Ser	missense variant	-	NC_000010.11:g.68691740A>T	ExAC,gnomAD
rs1402574259	p.Thr2113Ile	missense variant	-	NC_000010.11:g.68691741C>T	TOPMed
COSM6130139	p.Asp2115Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691748C>G	NCI-TCGA Cosmic
rs757251233	p.Asn2116Ser	missense variant	-	NC_000010.11:g.68691750A>G	NCI-TCGA,NCI-TCGA Cosmic
rs757251233	p.Asn2116Ser	missense variant	-	NC_000010.11:g.68691750A>G	ExAC,TOPMed,gnomAD
COSM685559	p.Asn2116Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691749A>G	NCI-TCGA Cosmic
COSM327331	p.Val2120Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691761G>A	NCI-TCGA Cosmic
COSM685558	p.Val2120Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691761G>T	NCI-TCGA Cosmic
rs199778295	p.Ala2124Val	missense variant	-	NC_000010.11:g.68691774C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs771672219	p.His2127Pro	missense variant	-	NC_000010.11:g.68691783A>C	ExAC,gnomAD
rs771672219	p.His2127Leu	missense variant	-	NC_000010.11:g.68691783A>T	ExAC,gnomAD
rs199882600	p.Val2128Ile	missense variant	-	NC_000010.11:g.68691785G>A	ExAC,TOPMed,gnomAD
rs768089885	p.Ala2129Val	missense variant	-	NC_000010.11:g.68691789C>T	ExAC,gnomAD
rs768089885	p.Ala2129Glu	missense variant	-	NC_000010.11:g.68691789C>A	ExAC,gnomAD
rs770280088	p.Pro2131Arg	missense variant	-	NC_000010.11:g.68691795C>G	ExAC,gnomAD
rs773490285	p.Asn2133Asp	missense variant	-	NC_000010.11:g.68691800A>G	ExAC,TOPMed,gnomAD
rs773490285	p.Asn2133His	missense variant	-	NC_000010.11:g.68691800A>C	ExAC,TOPMed,gnomAD
rs1239301657	p.Trp2135Leu	missense variant	-	NC_000010.11:g.68691807G>T	gnomAD
rs201444703	p.Val2136Ala	missense variant	-	NC_000010.11:g.68691810T>C	1000Genomes,ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002395	Alzheimer's Disease	disease	LHGDN
C0004096	Asthma	disease	BEFREE
C0004364	Autoimmune Diseases	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006826	Malignant Neoplasms	group	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0009375	Colonic Neoplasms	group	BEFREE
C0009376	Colonic Polyps	phenotype	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0014175	Endometriosis	disease	BEFREE
C0017636	Glioblastoma	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0023267	Fibroid Tumor	group	BEFREE
C0023418	leukemia	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE;LHGDN
C0024121	Lung Neoplasms	group	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027651	Neoplasms	group	BEFREE
C0027726	Nephrotic Syndrome	group	BEFREE
C0029408	Degenerative polyarthritis	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030193	Pain	phenotype	BEFREE
C0030421	Paraganglioma	disease	BEFREE
C0031511	Pheochromocytoma	disease	BEFREE
C0033975	Psychotic Disorders	group	BEFREE;PSYGENET
C0036341	Schizophrenia	disease	BEFREE;PSYGENET
C0038356	Stomach Neoplasms	group	BEFREE
C0042133	Uterine Fibroids	group	BEFREE
C0079731	B-Cell Lymphomas	group	BEFREE
C0085786	Hamman-Rich syndrome	disease	BEFREE
C0206658	Smooth Muscle Tumor	disease	BEFREE
C0221765	Chronic schizophrenia	disease	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0264408	Childhood asthma	disease	BEFREE
C0269102	Endometrioma	disease	BEFREE
C0345905	Intrahepatic Cholangiocarcinoma	disease	BEFREE
C0346629	Malignant neoplasm of large intestine	disease	BEFREE
C0349204	Nonorganic psychosis	disease	BEFREE;PSYGENET
C0376544	Hematopoietic Neoplasms	group	BEFREE
C0494463	Alzheimer Disease, Late Onset	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0598766	Leukemogenesis	disease	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0740345	Germ Cell Cancer	disease	BEFREE
C1134719	Invasive Ductal Breast Carcinoma	disease	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1292778	Chronic myeloproliferative disorder	disease	BEFREE
C1306459	Primary malignant neoplasm	group	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE
C1510586	Autism Spectrum Disorders	disease	BEFREE;CTD_human
C1527249	Colorectal Cancer	disease	BEFREE
C1800706	Idiopathic Pulmonary Fibrosis	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C3888194	MIXED LINEAGE LEUKEMIA	disease	BEFREE
C4284013	Primary cholangiocarcinoma of intrahepatic biliary tract	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003677	DNA binding	IDA
GO:0005506	iron ion binding	IDA
GO:0005506	iron ion binding	IBA
GO:0008270	zinc ion binding	IDA
GO:0008327	methyl-CpG binding	IDA
GO:0070579	methylcytosine dioxygenase activity	IDA
GO:0070579	methylcytosine dioxygenase activity	IMP
GO:0070579	methylcytosine dioxygenase activity	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001826	inner cell mass cell differentiation	ISS
GO:0006211	5-methylcytosine catabolic process	IBA
GO:0006325	chromatin organization	IEA
GO:0006493	protein O-linked glycosylation	ISS
GO:0008284	positive regulation of cell population proliferation	IMP
GO:0019827	stem cell population maintenance	ISS
GO:0031062	positive regulation of histone methylation	IMP
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA
GO:0070989	oxidative demethylation	IBA
GO:0080111	DNA demethylation	IMP
GO:0080111	DNA demethylation	IBA
GO:0090310	negative regulation of methylation-dependent chromatin silencing	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IC
GO:0005634	nucleus	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-212165	Epigenetic regulation of gene expression	IEA
R-HSA-5221030	TET1,2,3 and TDG demethylate DNA	IEA
R-HSA-74160	Gene expression (Transcription)	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C031763	1,3-butadiene	1,3-butadiene results in decreased expression of TET1 mRNA	29038090
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in increased expression of TET1 mRNA	24810058
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in decreased expression of TET1 mRNA	21394737
C044578	2,3,5,6-tetrachlorohydroquinone	TET1 protein affects the reaction [2,3,5,6-tetrachlorohydroquinone results in increased chemical synthesis of 5-hydroxymethylcytosine]	24214992
C044578	2,3,5,6-tetrachlorohydroquinone	TET1 protein affects the reaction [2,3,5,6-tetrachlorohydroquinone results in increased oxidation of 5-Methylcytosine]	24214992
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of TET1 mRNA	27188386
C011865	5-hydroxymethylcytosine	TET1 protein affects the reaction [2,3,5,6-tetrachlorohydroquinone results in increased chemical synthesis of 5-hydroxymethylcytosine]	24214992
C011865	5-hydroxymethylcytosine	TET1 protein affects the reaction [Chloranil results in increased chemical synthesis of 5-hydroxymethylcytosine]	24214992
C011865	5-hydroxymethylcytosine	TET1 protein results in increased chemical synthesis of 5-hydroxymethylcytosine	24619417
D044503	5-Methylcytosine	TET1 protein affects the reaction [2,3,5,6-tetrachlorohydroquinone results in increased oxidation of 5-Methylcytosine]	24214992
D044503	5-Methylcytosine	TET1 protein affects the reaction [Chloranil results in increased oxidation of 5-Methylcytosine]	24214992
D044503	5-Methylcytosine	TET1 protein results in increased hydroxylation of 5-Methylcytosine	24619417
C496492	abrine	abrine results in decreased expression of TET1 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in increased expression of TET1 mRNA	29665328
D000082	Acetaminophen	Acetaminophen affects the expression of TET1 mRNA	17562736
D000111	Acetylcysteine	Acetylcysteine inhibits the reaction [Particulate Matter results in increased expression of TET1 mRNA]	28153600
D020106	Acrylamide	Acrylamide results in decreased expression of TET1 mRNA	30807115
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of TET1 mRNA	21632981
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of TET1 gene	27153756
D000661	Amphetamine	Amphetamine results in decreased expression of TET1 mRNA	30779732
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of TET1 mRNA	24449571
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of TET1 mRNA	29223816
D001205	Ascorbic Acid	Ascorbic Acid affects the activity of TET1 protein	24162740
D001280	Atrazine	Atrazine results in increased expression of TET1 mRNA	22378314
D001379	Azathioprine	Azathioprine results in decreased expression of TET1 mRNA	22623647
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of TET1 mRNA	26001963
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of TET1 mRNA	20106945; 21632981;
C006780	bisphenol A	bisphenol A affects the expression of TET1 mRNA	27101439
C006780	bisphenol A	bisphenol A results in decreased expression of TET1 mRNA	27474941
C006780	bisphenol A	bisphenol A results in decreased expression of TET1 protein	28030787
C006780	bisphenol A	bisphenol A affects the expression of TET1 mRNA	25181051
C018475	butyraldehyde	butyraldehyde results in decreased expression of TET1 mRNA	26079696
D002220	Carbamazepine	Carbamazepine affects the expression of TET1 mRNA	25979313
D002703	Chloranil	TET1 protein affects the reaction [Chloranil results in increased chemical synthesis of 5-hydroxymethylcytosine]	24214992
D002703	Chloranil	TET1 protein affects the reaction [Chloranil results in increased oxidation of 5-Methylcytosine]	24214992
D002737	Chloroprene	Chloroprene results in decreased expression of TET1 mRNA	23125180
D019327	Copper Sulfate	Copper Sulfate results in decreased activity of TET1 protein	26362317
D003471	Cuprizone	Cuprizone results in decreased expression of TET1 mRNA	27523638
D016572	Cyclosporine	Cyclosporine results in decreased expression of TET1 mRNA	20106945; 21632981; 25562108;
D003634	DDT	DDT results in decreased expression of TET1 mRNA	30207508
C000944	dicrotophos	dicrotophos results in increased expression of TET1 mRNA	28302478
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of TET1 mRNA	31211961
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of TET1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of TET1 mRNA	29803840
D004726	Endosulfan	Endosulfan results in decreased expression of TET1 mRNA	29391264
D000431	Ethanol	Ethanol results in decreased expression of TET1 protein	23544149
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of TET1 mRNA	29097150
D005978	Glutathione	Glutathione inhibits the reaction [Particulate Matter results in increased expression of TET1 mRNA]	28153600
D007052	Ibuprofen	Ibuprofen results in increased expression of TET1 mRNA	29665328
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of TET1 mRNA	26752646
C008261	lead acetate	lead acetate results in increased methylation of TET1 gene	29571894
D008558	Melphalan	Melphalan results in decreased expression of TET1 mRNA	22363485
D008727	Methotrexate	Methotrexate results in increased expression of TET1 mRNA	24449571
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of TET1 mRNA	23179753; 27188386;
C523799	MRK 003	TET1 results in decreased susceptibility to MRK 003	19903844
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of TET1 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of TET1 mRNA	25554681
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of TET1 mRNA	26251327
C572573	N-nitroso-tris-chloroethylurea	[N-nitroso-tris-chloroethylurea co-treated with Pioglitazone] results in decreased expression of TET1 mRNA	27935865
C572573	N-nitroso-tris-chloroethylurea	N-nitroso-tris-chloroethylurea results in increased mutagenesis of TET1 gene	29484121
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of TET1 mRNA	30529165
D052638	Particulate Matter	Acetylcysteine inhibits the reaction [Particulate Matter results in increased expression of TET1 mRNA]	28153600
D052638	Particulate Matter	Glutathione inhibits the reaction [Particulate Matter results in increased expression of TET1 mRNA]	28153600
D052638	Particulate Matter	Particulate Matter results in increased expression of TET1 mRNA	28153600
C046012	pentanal	pentanal results in decreased expression of TET1 mRNA	26079696
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of TET1 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of TET1 mRNA	26272509
D000077205	Pioglitazone	[N-nitroso-tris-chloroethylurea co-treated with Pioglitazone] results in decreased expression of TET1 mRNA	27935865
C006253	pirinixic acid	pirinixic acid results in decreased expression of TET1 mRNA	23811191
D011285	Pregnenolone Carbonitrile	Pregnenolone Carbonitrile results in increased expression of TET1 mRNA	22698814
D011794	Quercetin	Quercetin results in decreased expression of TET1 mRNA	21632981
C031389	resorcinol	resorcinol results in increased expression of TET1 mRNA	22623647
D012715	Sesame Oil	Sesame Oil results in increased expression of TET1 mRNA	29191790
D012834	Silver	Silver results in decreased expression of TET1 mRNA	26014281
C017947	sodium arsenite	sodium arsenite affects the expression of TET1 mRNA	29301061
C017947	sodium arsenite	sodium arsenite affects the reaction [CTCF protein binds to TET1 promoter]	29175454
C017947	sodium arsenite	sodium arsenite results in increased expression of TET1 mRNA	29175454
D053260	Soot	Soot results in decreased expression of TET1 mRNA	26551751
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in decreased expression of TET1 mRNA	27509014
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of TET1 mRNA	20106945; 21632981;
D013849	Thimerosal	Thimerosal results in decreased expression of TET1 mRNA	27188386
D014212	Tretinoin	Tretinoin results in decreased expression of TET1 mRNA	16604517
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of TET1 mRNA	26179874
D014635	Valproic Acid	Valproic Acid affects the expression of TET1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of TET1 mRNA	23179753; 27188386; 28001369;
D014635	Valproic Acid	Valproic Acid affects the splicing of TET1 mRNA	29427782
D014635	Valproic Acid	Valproic Acid results in decreased expression of TET1 mRNA	29427782

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0010	Activator
KW-0156	Chromatin regulator
KW-0160	Chromosomal rearrangement
KW-0223	Dioxygenase
KW-0238	DNA-binding
KW-0325	Glycoprotein
KW-0408	Iron
KW-0479	Metal-binding
KW-0539	Nucleus
KW-0560	Oxidoreductase
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0678	Repressor
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR024779	2OGFeDO_noxygenase_dom
IPR040175	TET1/2/3
IPR002857	Znf_CXXC

PROSITE

PROSITE ID	PROSITE Term
PS51058	ZF_CXXC

Pfam

Pfam ID	Pfam Term
PF12851	Tet_JBP
PF02008	zf-CXXC

Gene: TET1

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