CleftGeneDB-Search

Gene: RECQL5

Basic information

Tag	Content
Uniprot ID	O94762; Q6P4G0; Q9H0B1; Q9P1W7; Q9UNC8;
Entrez ID	9400
Genbank protein ID	EAW89292.1; BAA95953.1; AAH63440.1; BAA95954.1; AAH16911.1; CAB66803.3; AAD43062.1; BAA74454.1; BAA95952.1; AAD43061.1;
Genbank nucleotide ID	NM_004259.6; XM_017025343.1; NM_001003716.3; XM_017025344.1; NM_001003715.3;
Ensembl protein ID	ENSP00000414933; ENSP00000317636; ENSP00000462248; ENSP00000341983; ENSP00000394820;
Ensembl nucleotide ID	ENSG00000108469
Gene name	ATP-dependent DNA helicase Q5
Gene symbol	RECQL5
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26449438
Functional description	Isoform beta is a DNA helicase that plays an important role in DNA replication, transcription and repair. Inhibits elongation of stalled transcripts at DNA damage sites by binding to the RNA polymerase II subunit POLR2A and blocking the TCEA1 binding site. Required for mitotic chromosome separation after cross-over events and cell cycle progress. Required for efficient DNA repair, including repair of inter-strand cross-links. Stimulates DNA decatenation mediated by TOP2A. Prevents sister chromatid exchange and homologous recombination.
Sequence	MSSHHTTFPF DPERRVRSTL KKVFGFDSFK TPLQESATMA VVKGNKDVFV CMPTGAGKSL 60 CYQLPALLAK GITIVVSPLI ALIQDQVDHL LTLKVRVSSL NSKLSAQERK ELLADLEREK 120 PQTKILYITP EMAASSSFQP TLNSLVSRHL LSYLVVDEAH CVSQWGHDFR PDYLRLGALR 180 SRLGHAPCVA LTATATPQVQ EDVFAALHLK KPVAIFKTPC FRANLFYDVQ FKELISDPYG 240 NLKDFCLKAL GQEADKGLSG CGIVYCRTRE ACEQLAIELS CRGVNAKAYH AGLKASERTL 300 VQNDWMEEKV PVIVATISFG MGVDKANVRF VAHWNIAKSM AGYYQESGRA GRDGKPSWCR 360 LYYSRNDRDQ VSFLIRKEVA KLQEKRGNKA SDKATIMAFD ALVTFCEELG CRHAAIAKYF 420 GDALPACAKG CDHCQNPTAV RRRLEALERS SSWSKTCIGP SQGNGFDPEL YEGGRKGYGD 480 FSRYDEGSGG SGDEGRDEAH KREWNLFYQK QMQLRKGKDP KIEEFVPPDE NCPLKEASSR 540 RIPRLTVKAR EHCLRLLEEA LSSNRQSTRT ADEADLRAKA VELEHETFRN AKVANLYKAS 600 VLKKVADIHR ASKDGQPYDM GGSAKSCSAQ AEPPEPNEYD IPPASHVYSL KPKRVGAGFP 660 KGSCPFQTAT ELMETTRIRE QAPQPERGGE HEPPSRPCGL LDEDGSEPLP GPRGEVPGGS 720 AHYGGPSPEK KAKSSSGGSS LAKGRASKKQ QLLATAAHKD SQSIARFFCR RVESPALLAS 780 APEAEGACPS CEGVQGPPMA PEKYTGEEDG AGGHSPAPPQ TEECLRERPS TCPPRDQGTP 840 EVQPTPAKDT WKGKRPRSQQ ENPESQPQKR PRPSAKPSVV AEVKGSVSAS EQGTLNPTAQ 900 DPFQLSAPGV SLKEAANVVV KCLTPFYKEG KFASKELFKG FARHLSHLLT QKTSPGRSVK 960 EEAQNLIRHF FHGRARCESE ADWHGLCGPQ R 991

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
4BK0
5LB3
5LB5
5LB8
5LBA
4BK0
5LB3
5LB8

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	RECQL5	512590	E1BKM5	Bos taurus	Prediction	More>>
1:1 ortholog	RECQL5	483317	F1PAG8	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	RECQL5	102169794	A0A452E119	Capra hircus	Prediction	More>>
1:1 ortholog	RECQL5	9400	O94762	Homo sapiens	Publication	More>>
1:1 ortholog	Recql5	170472	Q8VID5	Mus musculus	Prediction	More>>
1:1 ortholog	RECQL5		G1TZG6	Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Recql5	287834	D4ACP5	Rattus norvegicus	Prediction	More>>
1:1 ortholog	recql5	566553	X1WCM8	Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
RECQL5	c.1322C>T; p.R441Q	WES and Sanger sequencing	26449438

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs74526564	p.Ser2Asn	missense variant	-	NC_000017.11:g.75666553C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1279254609	p.Ser2Arg	missense variant	-	NC_000017.11:g.75666554T>G	TOPMed
rs1243903186	p.His4Arg	missense variant	-	NC_000017.11:g.75666547T>C	gnomAD
rs764221723	p.His5Arg	missense variant	-	NC_000017.11:g.75666544T>C	ExAC,gnomAD
NCI-TCGA novel	p.Thr7SerPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.75666538_75666539insCTCACGCCTGTAATCCCAGCAC	NCI-TCGA
rs756393873	p.Phe8Leu	missense variant	-	NC_000017.11:g.75666536A>G	ExAC,gnomAD
rs752906501	p.Pro9Leu	missense variant	-	NC_000017.11:g.75666532G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro12Leu	missense variant	-	NC_000017.11:g.75666523G>A	NCI-TCGA
rs980168414	p.Pro12Ser	missense variant	-	NC_000017.11:g.75666524G>A	TOPMed,gnomAD
rs1300960988	p.Arg14Gln	missense variant	-	NC_000017.11:g.75666517C>T	gnomAD
rs1392458321	p.Arg14Trp	missense variant	-	NC_000017.11:g.75666518G>A	gnomAD
rs1203603208	p.Val16Ile	missense variant	-	NC_000017.11:g.75666512C>T	TOPMed,gnomAD
rs767761106	p.Arg17Gln	missense variant	-	NC_000017.11:g.75666508C>T	ExAC,TOPMed,gnomAD
rs1380450414	p.Ser18Asn	missense variant	-	NC_000017.11:g.75666505C>T	gnomAD
rs142728014	p.Thr19Met	missense variant	-	NC_000017.11:g.75666502G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs570464439	p.Lys22Asn	missense variant	-	NC_000017.11:g.75666492C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs761686100	p.Val23Phe	missense variant	-	NC_000017.11:g.75666491C>A	ExAC,TOPMed,gnomAD
rs1271296618	p.Val23Gly	missense variant	-	NC_000017.11:g.75666490A>C	gnomAD
rs761686100	p.Val23Ile	missense variant	-	NC_000017.11:g.75666491C>T	ExAC,TOPMed,gnomAD
rs1220591408	p.Phe24Ser	missense variant	-	NC_000017.11:g.75666487A>G	gnomAD
rs1490206734	p.Gly25Arg	missense variant	-	NC_000017.11:g.75666485C>T	gnomAD
rs961965471	p.Phe26Leu	missense variant	-	NC_000017.11:g.75666480A>T	gnomAD
rs1015853934	p.Ser28Pro	missense variant	-	NC_000017.11:g.75666476A>G	TOPMed
COSM1386015	p.Phe29LeuPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.75666471A>-	NCI-TCGA Cosmic
rs34137764	p.Thr31Met	missense variant	-	NC_000017.11:g.75666466G>A	TOPMed
rs760210513	p.Pro32Leu	missense variant	-	NC_000017.11:g.75666463G>A	ExAC,TOPMed,gnomAD
rs768089295	p.Pro32Ala	missense variant	-	NC_000017.11:g.75666464G>C	ExAC,TOPMed,gnomAD
rs768089295	p.Pro32Ser	missense variant	-	NC_000017.11:g.75666464G>A	ExAC,TOPMed,gnomAD
rs138735189	p.Leu33Ser	missense variant	-	NC_000017.11:g.75666460A>G	ESP,ExAC,TOPMed,gnomAD
rs771752520	p.Gln34Ter	stop gained	-	NC_000017.11:g.75666458G>A	ExAC,TOPMed,gnomAD
rs746223130	p.Ser36Thr	missense variant	-	NC_000017.11:g.75666451C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala37Val	missense variant	-	NC_000017.11:g.75666448G>A	NCI-TCGA
rs747371486	p.Thr38Ala	missense variant	-	NC_000017.11:g.75666446T>C	ExAC,TOPMed,gnomAD
rs1383466708	p.Met39Val	missense variant	-	NC_000017.11:g.75666443T>C	gnomAD
rs1158550121	p.Ala40Thr	missense variant	-	NC_000017.11:g.75666440C>T	gnomAD
rs546835346	p.Val42Ile	missense variant	-	NC_000017.11:g.75666434C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Lys43Asn	missense variant	-	NC_000017.11:g.75666429T>G	NCI-TCGA
rs1431992681	p.Lys43Arg	missense variant	-	NC_000017.11:g.75666430T>C	gnomAD
rs375072095	p.Gly44Asp	missense variant	-	NC_000017.11:g.75665172C>T	ESP,ExAC,gnomAD
rs781282018	p.Asn45Ser	missense variant	-	NC_000017.11:g.75665169T>C	ExAC,gnomAD
rs145732862	p.Asp47Glu	missense variant	-	NC_000017.11:g.75665162G>C	ESP,ExAC,TOPMed,gnomAD
rs933891179	p.Asp47Gly	missense variant	-	NC_000017.11:g.75665163T>C	TOPMed
rs548064379	p.Val48Ile	missense variant	-	NC_000017.11:g.75665161C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs548064379	p.Val48Leu	missense variant	-	NC_000017.11:g.75665161C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs780225983	p.Phe49Ser	missense variant	-	NC_000017.11:g.75665157A>G	ExAC
rs1284278188	p.Met52Val	missense variant	-	NC_000017.11:g.75665149T>C	gnomAD
rs534932735	p.Pro53Leu	missense variant	-	NC_000017.11:g.75665145G>A	1000Genomes,ExAC,gnomAD
rs753625950	p.Thr54Ala	missense variant	-	NC_000017.11:g.75665143T>C	ExAC,TOPMed,gnomAD
rs753625950	p.Thr54Ser	missense variant	-	NC_000017.11:g.75665143T>A	ExAC,TOPMed,gnomAD
rs767015245	p.Gly57Glu	missense variant	-	NC_000017.11:g.75665133C>T	ExAC,gnomAD
COSM5893942	p.Ser59Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75665127G>A	NCI-TCGA Cosmic
rs766120357	p.Gln63His	missense variant	-	NC_000017.11:g.75665114C>G	ExAC,gnomAD
rs1446317442	p.Gln63Ter	stop gained	-	NC_000017.11:g.75665116G>A	gnomAD
rs61733534	p.Leu64Phe	missense variant	-	NC_000017.11:g.75665113G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs61733534	p.Leu64Val	missense variant	-	NC_000017.11:g.75665113G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1458046240	p.Pro65Arg	missense variant	-	NC_000017.11:g.75665109G>C	gnomAD
rs770221228	p.Leu68Ser	missense variant	-	NC_000017.11:g.75665100A>G	ExAC,gnomAD
rs552350778	p.Ile74Val	missense variant	-	NC_000017.11:g.75665083T>C	1000Genomes,ExAC,gnomAD
rs776970335	p.Ile74Thr	missense variant	-	NC_000017.11:g.75665082A>G	ExAC,gnomAD
rs1214969853	p.Val75Ile	missense variant	-	NC_000017.11:g.75665080C>T	TOPMed
rs1245964295	p.Pro78Ser	missense variant	-	NC_000017.11:g.75665071G>A	gnomAD
rs747076470	p.Leu79Phe	missense variant	-	NC_000017.11:g.75665068G>A	ExAC,gnomAD
rs747076470	p.Leu79Val	missense variant	-	NC_000017.11:g.75665068G>C	ExAC,gnomAD
rs780321333	p.Ile80Val	missense variant	-	NC_000017.11:g.75665065T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala81Val	missense variant	-	NC_000017.11:g.75665061G>A	NCI-TCGA
rs138314635	p.Gln84Arg	missense variant	-	NC_000017.11:g.75665052T>C	ESP,ExAC,TOPMed,gnomAD
rs1264160926	p.Asp85Asn	missense variant	-	NC_000017.11:g.75662997C>T	gnomAD
rs1264160926	p.Asp85Tyr	missense variant	-	NC_000017.11:g.75662997C>A	gnomAD
rs781348338	p.Val87Met	missense variant	-	NC_000017.11:g.75662991C>T	ExAC,gnomAD
rs781348338	p.Val87Leu	missense variant	-	NC_000017.11:g.75662991C>G	ExAC,gnomAD
rs374661348	p.His89Tyr	missense variant	-	NC_000017.11:g.75662985G>A	ESP,ExAC,TOPMed,gnomAD
rs779667518	p.Leu90Phe	missense variant	-	NC_000017.11:g.75662980C>G	ExAC,TOPMed,gnomAD
rs1452980294	p.Leu91Ile	missense variant	-	NC_000017.11:g.75662979G>T	gnomAD
rs1406459312	p.Leu91Pro	missense variant	-	NC_000017.11:g.75662978A>G	gnomAD
COSM3522222	p.Thr92Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75662975G>A	NCI-TCGA Cosmic
rs750136431	p.Leu93Pro	missense variant	-	NC_000017.11:g.75662972A>G	ExAC,gnomAD
rs754082956	p.Arg96Gln	missense variant	-	NC_000017.11:g.75662963C>T	ExAC,TOPMed,gnomAD
rs1042201633	p.Arg96Ter	stop gained	-	NC_000017.11:g.75662964G>A	TOPMed
rs764597311	p.Val97Ile	missense variant	-	NC_000017.11:g.75662961C>T	ExAC,gnomAD
rs146861903	p.Ser98Ile	missense variant	-	NC_000017.11:g.75662957C>A	ESP,ExAC,TOPMed,gnomAD
rs146861903	p.Ser98Asn	missense variant	-	NC_000017.11:g.75662957C>T	ESP,ExAC,TOPMed,gnomAD
rs945091698	p.Ser102Leu	missense variant	-	NC_000017.11:g.75662945G>A	TOPMed,gnomAD
rs759514664	p.Leu104Arg	missense variant	-	NC_000017.11:g.75662939A>C	ExAC,gnomAD
rs376899877	p.Ser105Cys	missense variant	-	NC_000017.11:g.75662936G>C	ESP,ExAC,gnomAD
rs1281910528	p.Glu108Ter	stop gained	-	NC_000017.11:g.75662928C>A	TOPMed
NCI-TCGA novel	p.Lys110Ter	stop gained	-	NC_000017.11:g.75662922T>A	NCI-TCGA
rs1383466826	p.Lys110Arg	missense variant	-	NC_000017.11:g.75662921T>C	gnomAD
NCI-TCGA novel	p.Glu111Ter	stop gained	-	NC_000017.11:g.75662919C>A	NCI-TCGA
rs1271913143	p.Ala114Gly	missense variant	-	NC_000017.11:g.75662909G>C	TOPMed
rs1405171972	p.Ala114Thr	missense variant	-	NC_000017.11:g.75662910C>T	gnomAD
rs757982273	p.Leu116Val	missense variant	-	NC_000017.11:g.75662904G>C	ExAC,TOPMed,gnomAD
rs757982273	p.Leu116Met	missense variant	-	NC_000017.11:g.75662904G>T	ExAC,TOPMed,gnomAD
rs769096302	p.Arg118Gln	missense variant	-	NC_000017.11:g.75662897C>T	ExAC,TOPMed,gnomAD
rs769096302	p.Arg118Pro	missense variant	-	NC_000017.11:g.75662897C>G	ExAC,TOPMed,gnomAD
rs1463215168	p.Arg118Ter	stop gained	-	NC_000017.11:g.75662898G>A	gnomAD
NCI-TCGA novel	p.Pro121AlaPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.75662890_75662891insT	NCI-TCGA
rs1485309555	p.Pro121Leu	missense variant	-	NC_000017.11:g.75662888G>A	TOPMed
rs1469700068	p.Gln122Leu	missense variant	-	NC_000017.11:g.75662885T>A	gnomAD
rs754251938	p.Ile128Val	missense variant	-	NC_000017.11:g.75662868T>C	ExAC,TOPMed,gnomAD
rs749418602	p.Ile128Thr	missense variant	-	NC_000017.11:g.75662867A>G	ExAC,TOPMed,gnomAD
rs573783187	p.Pro130Leu	missense variant	-	NC_000017.11:g.75662861G>A	1000Genomes
rs760986796	p.Pro130Ser	missense variant	-	NC_000017.11:g.75662862G>A	ExAC,gnomAD
rs753224016	p.Met132Leu	missense variant	-	NC_000017.11:g.75662856T>A	ExAC,gnomAD
rs1481759737	p.Ala133Thr	missense variant	-	NC_000017.11:g.75662853C>T	gnomAD
rs1226756008	p.Ser135Leu	missense variant	-	NC_000017.11:g.75662846G>A	TOPMed,gnomAD
rs759663263	p.Gln139Pro	missense variant	-	NC_000017.11:g.75662834T>G	ExAC,gnomAD
COSM3890424	p.Gln139Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.75662835G>A	NCI-TCGA Cosmic
rs1448002478	p.Leu142Pro	missense variant	-	NC_000017.11:g.75662825A>G	TOPMed
rs1317073268	p.Asn143Ser	missense variant	-	NC_000017.11:g.75662822T>C	gnomAD
rs1371623758	p.Asn143Lys	missense variant	-	NC_000017.11:g.75662821G>C	TOPMed
rs1243762239	p.Leu145Val	missense variant	-	NC_000017.11:g.75662817G>C	gnomAD
rs1381702206	p.Val146Leu	missense variant	-	NC_000017.11:g.75662814C>A	gnomAD
rs774287498	p.Val146Ala	missense variant	-	NC_000017.11:g.75662813A>G	ExAC,gnomAD
rs780333281	p.Arg148Cys	missense variant	-	NC_000017.11:g.75662808G>A	ExAC,TOPMed,gnomAD
rs1297288576	p.Arg148His	missense variant	-	NC_000017.11:g.75662807C>T	TOPMed,gnomAD
rs1424732571	p.His149Pro	missense variant	-	NC_000017.11:g.75662804T>G	gnomAD
rs768596889	p.Leu151Pro	missense variant	-	NC_000017.11:g.75662798A>G	ExAC,gnomAD
rs1308025827	p.Leu154Phe	missense variant	-	NC_000017.11:g.75662788C>G	gnomAD
rs1368214473	p.Val155Leu	missense variant	-	NC_000017.11:g.75662787C>A	TOPMed,gnomAD
rs984596020	p.Val156Leu	missense variant	-	NC_000017.11:g.75662784C>A	TOPMed,gnomAD
rs1362592493	p.Val156Ala	missense variant	-	NC_000017.11:g.75662783A>G	TOPMed
rs1248650774	p.Asp157Gly	missense variant	-	NC_000017.11:g.75662780T>C	gnomAD
rs771901158	p.Ala159Thr	missense variant	-	NC_000017.11:g.75662775C>T	ExAC,gnomAD
rs1298038770	p.His160Tyr	missense variant	-	NC_000017.11:g.75662772G>A	TOPMed
rs1442643516	p.Val162Ile	missense variant	-	NC_000017.11:g.75662766C>T	TOPMed,gnomAD
rs1294061527	p.Ser163Pro	missense variant	-	NC_000017.11:g.75662763A>G	gnomAD
NCI-TCGA novel	p.Gln164Arg	missense variant	-	NC_000017.11:g.75662759T>C	NCI-TCGA
rs1325669154	p.Trp165Cys	missense variant	-	NC_000017.11:g.75662755C>G	gnomAD
rs1280710819	p.Trp165Arg	missense variant	-	NC_000017.11:g.75662757A>G	TOPMed
rs1356827385	p.His167Asn	missense variant	-	NC_000017.11:g.75662751G>T	TOPMed,gnomAD
rs1339575010	p.Arg170Cys	missense variant	-	NC_000017.11:g.75662742G>A	TOPMed,gnomAD
rs745441915	p.Arg170His	missense variant	-	NC_000017.11:g.75662741C>T	ExAC,gnomAD
rs778264798	p.Pro171Leu	missense variant	-	NC_000017.11:g.75662738G>A	ExAC,gnomAD
NCI-TCGA novel	p.Tyr173Cys	missense variant	-	NC_000017.11:g.75662732T>C	NCI-TCGA
rs200668259	p.Leu174Ter	stop gained	-	NC_000017.11:g.75662729A>T	ExAC,TOPMed
rs200668259	p.Leu174Trp	missense variant	-	NC_000017.11:g.75662729A>C	ExAC,TOPMed
rs972145896	p.Arg175Cys	missense variant	-	NC_000017.11:g.75662727G>A	TOPMed,gnomAD
rs972145896	p.Arg175Ser	missense variant	-	NC_000017.11:g.75662727G>T	TOPMed,gnomAD
rs192913858	p.Arg175His	missense variant	-	NC_000017.11:g.75662726C>T	1000Genomes,TOPMed,gnomAD
rs202162742	p.Arg180His	missense variant	-	NC_000017.11:g.75662711C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs114867126	p.Arg180Cys	missense variant	-	NC_000017.11:g.75662712G>A	1000Genomes,ESP,ExAC,gnomAD
rs1019383338	p.Ser181Cys	missense variant	-	NC_000017.11:g.75662708G>C	TOPMed,gnomAD
rs1019383338	p.Ser181Phe	missense variant	-	NC_000017.11:g.75662708G>A	TOPMed,gnomAD
rs373102473	p.Arg182Cys	missense variant	-	NC_000017.11:g.75662706G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369553617	p.Arg182His	missense variant	-	NC_000017.11:g.75662705C>T	ESP,ExAC,TOPMed,gnomAD
rs1362481757	p.Leu183Pro	missense variant	-	NC_000017.11:g.75662702A>G	TOPMed,gnomAD
NCI-TCGA novel	p.His185Asp	missense variant	-	NC_000017.11:g.75662697G>C	NCI-TCGA
rs766404961	p.His185Arg	missense variant	-	NC_000017.11:g.75662696T>C	ExAC,TOPMed,gnomAD
rs1202340850	p.His185Tyr	missense variant	-	NC_000017.11:g.75662697G>A	gnomAD
rs141276648	p.Ala186Thr	missense variant	-	NC_000017.11:g.75662694C>T	ESP,ExAC,TOPMed,gnomAD
rs1197395443	p.Ala186Gly	missense variant	-	NC_000017.11:g.75662693G>C	gnomAD
rs1284859514	p.Cys188Ser	missense variant	-	NC_000017.11:g.75662687C>G	TOPMed,gnomAD
rs1284859514	p.Cys188Phe	missense variant	-	NC_000017.11:g.75662687C>A	TOPMed,gnomAD
rs772096029	p.Ala190Val	missense variant	-	NC_000017.11:g.75662681G>A	ExAC,gnomAD
rs775413688	p.Ala190Ser	missense variant	-	NC_000017.11:g.75662682C>A	ExAC,TOPMed,gnomAD
rs1347030663	p.Leu191Arg	missense variant	-	NC_000017.11:g.75662678A>C	gnomAD
NCI-TCGA novel	p.Ala193Phe	insertion	-	NC_000017.11:g.75662670_75662671insAAA	NCI-TCGA
COSM1386013	p.Ala193Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75662673C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr194IlePheSerTerUnkUnk	frameshift	-	NC_000017.11:g.75662669_75662670insA	NCI-TCGA
rs1403765879	p.Thr194Ser	missense variant	-	NC_000017.11:g.75662670T>A	gnomAD
rs1451351311	p.Ala195Thr	missense variant	-	NC_000017.11:g.75662667C>T	TOPMed
rs985107055	p.Pro197Arg	missense variant	-	NC_000017.11:g.75662660G>C	TOPMed,gnomAD
rs985107055	p.Pro197Leu	missense variant	-	NC_000017.11:g.75662660G>A	TOPMed,gnomAD
rs985107055	p.Pro197Gln	missense variant	-	NC_000017.11:g.75662660G>T	TOPMed,gnomAD
rs1159165541	p.Asp202Tyr	missense variant	-	NC_000017.11:g.75662646C>A	TOPMed
rs373202958	p.Val203Met	missense variant	-	NC_000017.11:g.75662643C>T	ESP,ExAC,TOPMed,gnomAD
rs1056533482	p.Ala206Val	missense variant	-	NC_000017.11:g.75662633G>A	TOPMed
rs1056533482	p.Ala206Gly	missense variant	-	NC_000017.11:g.75662633G>C	TOPMed
rs755756738	p.Leu207Pro	missense variant	-	NC_000017.11:g.75662630A>G	ExAC,gnomAD
NCI-TCGA novel	p.His208Tyr	missense variant	-	NC_000017.11:g.75662628G>A	NCI-TCGA
rs1174605700	p.His208Gln	missense variant	-	NC_000017.11:g.75662626G>C	gnomAD
rs937656546	p.Leu209Pro	missense variant	-	NC_000017.11:g.75662624A>G	TOPMed
NCI-TCGA novel	p.Lys210Asn	missense variant	-	NC_000017.11:g.75662620C>A	NCI-TCGA
rs748566945	p.Lys210Arg	missense variant	-	NC_000017.11:g.75662621T>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys211Thr	missense variant	-	NC_000017.11:g.75662618T>G	NCI-TCGA
rs755333845	p.Ile215Val	missense variant	-	NC_000017.11:g.75662607T>C	ExAC,TOPMed,gnomAD
rs755333845	p.Ile215Leu	missense variant	-	NC_000017.11:g.75662607T>G	ExAC,TOPMed,gnomAD
rs752033458	p.Phe216Leu	missense variant	-	NC_000017.11:g.75662604A>G	ExAC,gnomAD
rs200647484	p.Lys217Glu	missense variant	-	NC_000017.11:g.75662601T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1204034120	p.Thr218Ile	missense variant	-	NC_000017.11:g.75662597G>A	gnomAD
NCI-TCGA novel	p.Pro219Leu	missense variant	-	NC_000017.11:g.75662594G>A	NCI-TCGA
NCI-TCGA novel	p.Pro219Arg	missense variant	-	NC_000017.11:g.75662594G>C	NCI-TCGA
rs1208341893	p.Pro219His	missense variant	-	NC_000017.11:g.75662594G>T	TOPMed
rs758558276	p.Cys220Ser	missense variant	-	NC_000017.11:g.75662591C>G	ExAC,gnomAD
rs762104670	p.Arg222Gln	missense variant	-	NC_000017.11:g.75662585C>T	ExAC,TOPMed,gnomAD
rs765614838	p.Arg222Gly	missense variant	-	NC_000017.11:g.75662586G>C	ExAC,TOPMed,gnomAD
rs765614838	p.Arg222Trp	missense variant	-	NC_000017.11:g.75662586G>A	ExAC,TOPMed,gnomAD
rs775466877	p.Ala223Thr	missense variant	-	NC_000017.11:g.75662583C>T	ExAC,TOPMed,gnomAD
rs767246768	p.Asn224Ser	missense variant	-	NC_000017.11:g.75662579T>C	ExAC,gnomAD
rs774167298	p.Leu225Ile	missense variant	-	NC_000017.11:g.75662577G>T	ExAC,TOPMed,gnomAD
rs774167298	p.Leu225Val	missense variant	-	NC_000017.11:g.75662577G>C	ExAC,TOPMed,gnomAD
rs1367472934	p.Tyr227Cys	missense variant	-	NC_000017.11:g.75662570T>C	TOPMed
rs966529780	p.Val229Met	missense variant	-	NC_000017.11:g.75662565C>T	TOPMed
rs1408828599	p.Gln230Pro	missense variant	-	NC_000017.11:g.75662561T>G	gnomAD
rs762514267	p.Lys232Thr	missense variant	-	NC_000017.11:g.75662555T>G	ExAC,TOPMed,gnomAD
rs762514267	p.Lys232Arg	missense variant	-	NC_000017.11:g.75662555T>C	ExAC,TOPMed,gnomAD
rs1352257590	p.Ile235Thr	missense variant	-	NC_000017.11:g.75662546A>G	TOPMed
rs377278442	p.Asp237Asn	missense variant	-	NC_000017.11:g.75662541C>T	ESP,ExAC,TOPMed,gnomAD
rs377278442	p.Asp237His	missense variant	-	NC_000017.11:g.75662541C>G	ESP,ExAC,TOPMed,gnomAD
rs1242848440	p.Tyr239Ter	stop gained	-	NC_000017.11:g.75662533A>C	TOPMed
rs372882936	p.Tyr239Cys	missense variant	-	NC_000017.11:g.75662534T>C	ESP,ExAC,TOPMed,gnomAD
rs768919209	p.Asn241Ser	missense variant	-	NC_000017.11:g.75662528T>C	ExAC,gnomAD
rs1032996505	p.Asp244Glu	missense variant	-	NC_000017.11:g.75662518G>C	TOPMed
rs1357440516	p.Asp244Tyr	missense variant	-	NC_000017.11:g.75662520C>A	TOPMed
COSM4860214	p.Phe245Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75662515G>T	NCI-TCGA Cosmic
rs1438079990	p.Cys246Gly	missense variant	-	NC_000017.11:g.75662514A>C	gnomAD
rs780494394	p.Cys246Tyr	missense variant	-	NC_000017.11:g.75662513C>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys248Asn	missense variant	-	NC_000017.11:g.75662506C>A	NCI-TCGA
rs1297510127	p.Leu250Phe	missense variant	-	NC_000017.11:g.75662502G>A	gnomAD
rs758960976	p.Gln252Pro	missense variant	-	NC_000017.11:g.75662495T>G	ExAC,TOPMed,gnomAD
rs758960976	p.Gln252Arg	missense variant	-	NC_000017.11:g.75662495T>C	ExAC,TOPMed,gnomAD
rs756078828	p.Asp255Asn	missense variant	-	NC_000017.11:g.75662487C>T	ExAC,TOPMed,gnomAD
rs1421595059	p.Lys256Thr	missense variant	-	NC_000017.11:g.75662483T>G	TOPMed
rs1355311785	p.Gly257Glu	missense variant	-	NC_000017.11:g.75662480C>T	TOPMed,gnomAD
rs779105769	p.Gly257Arg	missense variant	-	NC_000017.11:g.75662481C>G	ExAC,gnomAD
rs1355311785	p.Gly257Val	missense variant	-	NC_000017.11:g.75662480C>A	TOPMed,gnomAD
rs1226746043	p.Gly260Asp	missense variant	-	NC_000017.11:g.75661701C>T	gnomAD
rs558602271	p.Cys261Tyr	missense variant	-	NC_000017.11:g.75661698C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs373595702	p.Gly262Ser	missense variant	-	NC_000017.11:g.75661696C>T	ESP,ExAC,gnomAD
rs114020363	p.Tyr265Ser	missense variant	-	NC_000017.11:g.75661686T>G	1000Genomes
rs1365649983	p.Arg267Lys	missense variant	-	NC_000017.11:g.75661680C>T	gnomAD
rs77330501	p.Thr268Ala	missense variant	-	NC_000017.11:g.75661678T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1346697652	p.Arg269Gly	missense variant	-	NC_000017.11:g.75661675T>C	gnomAD
COSM1480011	p.Arg269Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75661674C>G	NCI-TCGA Cosmic
rs1156710356	p.Ala271Pro	missense variant	-	NC_000017.11:g.75661669C>G	gnomAD
rs201246907	p.Cys272Tyr	missense variant	-	NC_000017.11:g.75661665C>T	ExAC,TOPMed,gnomAD
rs201246907	p.Cys272Phe	missense variant	-	NC_000017.11:g.75661665C>A	ExAC,TOPMed,gnomAD
rs775002332	p.Glu273Ala	missense variant	-	NC_000017.11:g.75661662T>G	ExAC,gnomAD
rs775244001	p.Glu273Lys	missense variant	-	NC_000017.11:g.75661663C>T	ExAC,gnomAD
rs775002332	p.Glu273Gly	missense variant	-	NC_000017.11:g.75661662T>C	ExAC,gnomAD
rs775244001	p.Glu273Ter	stop gained	-	NC_000017.11:g.75661663C>A	ExAC,gnomAD
rs775002332	p.Glu273Val	missense variant	-	NC_000017.11:g.75661662T>A	ExAC,gnomAD
rs749382271	p.Gln274Lys	missense variant	-	NC_000017.11:g.75661660G>T	ExAC,gnomAD
rs749382271	p.Gln274Glu	missense variant	-	NC_000017.11:g.75661660G>C	ExAC,gnomAD
rs748429720	p.Leu275Pro	missense variant	-	NC_000017.11:g.75661656A>G	ExAC
rs756327020	p.Leu275Met	missense variant	-	NC_000017.11:g.75661657G>T	ExAC
rs758197496	p.Ala276Gly	missense variant	-	NC_000017.11:g.75661653G>C	ExAC
rs199943360	p.Ile277Leu	missense variant	-	NC_000017.11:g.75661651T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1191064911	p.Ile277Thr	missense variant	-	NC_000017.11:g.75661650A>G	gnomAD
rs199943360	p.Ile277Val	missense variant	-	NC_000017.11:g.75661651T>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM6082039	p.Glu278Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75661648C>G	NCI-TCGA Cosmic
rs757197036	p.Leu279Ile	missense variant	-	NC_000017.11:g.75661645G>T	ExAC
rs753331428	p.Cys281Arg	missense variant	-	NC_000017.11:g.75661639A>G	ExAC,gnomAD
rs200213823	p.Cys281Trp	missense variant	-	NC_000017.11:g.75661637G>C	ExAC,TOPMed,gnomAD
rs775295140	p.Gly283Ser	missense variant	-	NC_000017.11:g.75661633C>T	ExAC,TOPMed,gnomAD
rs1294517967	p.Val284Met	missense variant	-	NC_000017.11:g.75661630C>T	TOPMed
rs114393199	p.Asn285Lys	missense variant	-	NC_000017.11:g.75661625G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771388094	p.Ala286Thr	missense variant	-	NC_000017.11:g.75661624C>T	ExAC,TOPMed,gnomAD
rs1248952256	p.Ala286Val	missense variant	-	NC_000017.11:g.75661623G>A	TOPMed
rs1215050423	p.Lys287Arg	missense variant	-	NC_000017.11:g.75661620T>C	gnomAD
rs749768889	p.Ala288Pro	missense variant	-	NC_000017.11:g.75661618C>G	ExAC,gnomAD
rs749768889	p.Ala288Thr	missense variant	-	NC_000017.11:g.75661618C>T	ExAC,gnomAD
rs773547796	p.Tyr289Cys	missense variant	-	NC_000017.11:g.75661614T>C	ExAC,gnomAD
rs913259536	p.His290Arg	missense variant	-	NC_000017.11:g.75661611T>C	TOPMed,gnomAD
rs769935593	p.His290Tyr	missense variant	-	NC_000017.11:g.75661612G>A	ExAC,gnomAD
rs1167184373	p.Leu293Arg	missense variant	-	NC_000017.11:g.75661063A>C	gnomAD
rs766794250	p.Lys294Arg	missense variant	-	NC_000017.11:g.75661060T>C	ExAC,gnomAD
rs763175448	p.Ala295Val	missense variant	-	NC_000017.11:g.75661057G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg298Ile	missense variant	-	NC_000017.11:g.75661048C>A	NCI-TCGA
rs1472245850	p.Arg298Gly	missense variant	-	NC_000017.11:g.75661049T>C	TOPMed,gnomAD
rs947439645	p.Thr299Met	missense variant	-	NC_000017.11:g.75661045G>A	TOPMed
rs532964714	p.Val301Met	missense variant	-	NC_000017.11:g.75661040C>T	1000Genomes,ExAC,gnomAD
COSM3522209	p.Val301Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75661039A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln302His	missense variant	-	NC_000017.11:g.75661035C>G	NCI-TCGA
rs776673162	p.Asn303Asp	missense variant	-	NC_000017.11:g.75661034T>C	ExAC,gnomAD
rs1473986109	p.Asp304Asn	missense variant	-	NC_000017.11:g.75661031C>T	TOPMed,gnomAD
rs1204291722	p.Trp305Gly	missense variant	-	NC_000017.11:g.75661028A>C	gnomAD
rs370080850	p.Met306Ile	missense variant	-	NC_000017.11:g.75661023C>T	ESP,ExAC,TOPMed,gnomAD
rs780090709	p.Lys309Met	missense variant	-	NC_000017.11:g.75661015T>A	ExAC,gnomAD
rs1392773439	p.Val310Ala	missense variant	-	NC_000017.11:g.75661012A>G	TOPMed,gnomAD
rs1348021629	p.Pro311Arg	missense variant	-	NC_000017.11:g.75661009G>C	TOPMed,gnomAD
rs1424794897	p.Val314Ala	missense variant	-	NC_000017.11:g.75661000A>G	gnomAD
rs1165570621	p.Ala315Val	missense variant	-	NC_000017.11:g.75660997G>A	gnomAD
rs1186806744	p.Thr316Ile	missense variant	-	NC_000017.11:g.75660994G>A	TOPMed,gnomAD
rs777833134	p.Ser318Gly	missense variant	-	NC_000017.11:g.75660989T>C	ExAC,TOPMed,gnomAD
rs755989538	p.Phe319Leu	missense variant	-	NC_000017.11:g.75660984A>C	ExAC,TOPMed,gnomAD
rs35967086	p.Met321Thr	missense variant	-	NC_000017.11:g.75660979A>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM4866039	p.Val323Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75660974C>T	NCI-TCGA Cosmic
rs1258479729	p.Asn327Ser	missense variant	-	NC_000017.11:g.75660961T>C	gnomAD
rs1384673272	p.Asn327Tyr	missense variant	-	NC_000017.11:g.75660962T>A	TOPMed
COSM3691806	p.Arg329Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75660955C>A	NCI-TCGA Cosmic
rs781222158	p.Phe330Leu	missense variant	-	NC_000017.11:g.75658457A>C	ExAC,gnomAD
rs201204572	p.Ala332Thr	missense variant	-	NC_000017.11:g.75658453C>T	NCI-TCGA,NCI-TCGA Cosmic
rs201204572	p.Ala332Thr	missense variant	-	NC_000017.11:g.75658453C>T	ExAC,gnomAD
rs201204572	p.Ala332Ser	missense variant	-	NC_000017.11:g.75658453C>A	ExAC,gnomAD
COSM1735266	p.Trp334Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.75658446C>T	NCI-TCGA Cosmic
COSM473368	p.Trp334Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75658447A>C	NCI-TCGA Cosmic
rs757967452	p.Asn335His	missense variant	-	NC_000017.11:g.75658444T>G	ExAC,TOPMed,gnomAD
rs116650736	p.Asn335Ser	missense variant	-	NC_000017.11:g.75658443T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1166738102	p.Ile336Thr	missense variant	-	NC_000017.11:g.75658440A>G	gnomAD
rs916795801	p.Lys338Arg	missense variant	-	NC_000017.11:g.75658434T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ser339Tyr	missense variant	-	NC_000017.11:g.75658431G>T	NCI-TCGA
rs765553954	p.Ala341Thr	missense variant	-	NC_000017.11:g.75658426C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly342Val	missense variant	-	NC_000017.11:g.75658422C>A	NCI-TCGA
rs868399159	p.Gly342Glu	missense variant	-	NC_000017.11:g.75658422C>T	gnomAD
NCI-TCGA novel	p.Tyr343His	missense variant	-	NC_000017.11:g.75658420A>G	NCI-TCGA
rs754357449	p.Tyr343Cys	missense variant	-	NC_000017.11:g.75658419T>C	ExAC,TOPMed
rs757570015	p.Tyr343Asp	missense variant	-	NC_000017.11:g.75658420A>C	ExAC,gnomAD
rs888307062	p.Tyr344Asn	missense variant	-	NC_000017.11:g.75658417A>T	TOPMed
rs1304099701	p.Glu346Gln	missense variant	-	NC_000017.11:g.75658411C>G	TOPMed
rs1330999841	p.Ser347Thr	missense variant	-	NC_000017.11:g.75658408A>T	gnomAD
rs769645716	p.Arg349Pro	missense variant	-	NC_000017.11:g.75658401C>G	ExAC,gnomAD
rs769645716	p.Arg349Gln	missense variant	-	NC_000017.11:g.75658401C>T	ExAC,gnomAD
rs534794509	p.Arg349Trp	missense variant	-	NC_000017.11:g.75658402G>A	1000Genomes,ExAC,gnomAD
rs767828047	p.Ala350Thr	missense variant	-	NC_000017.11:g.75658399C>T	ExAC,gnomAD
rs767828047	p.Ala350Pro	missense variant	-	NC_000017.11:g.75658399C>G	ExAC,gnomAD
rs759645339	p.Arg352Lys	missense variant	-	NC_000017.11:g.75658392C>T	ExAC,TOPMed,gnomAD
rs759645339	p.Arg352Thr	missense variant	-	NC_000017.11:g.75658392C>G	ExAC,TOPMed,gnomAD
COSM1563648	p.Gly354Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75658386C>A	NCI-TCGA Cosmic
rs1477770536	p.Pro356Ser	missense variant	-	NC_000017.11:g.75658381G>A	TOPMed,gnomAD
rs1373564908	p.Trp358Arg	missense variant	-	NC_000017.11:g.75658375A>G	gnomAD
rs769730810	p.Arg360Cys	missense variant	-	NC_000017.11:g.75658369G>A	ExAC,TOPMed,gnomAD
rs747890706	p.Arg360His	missense variant	-	NC_000017.11:g.75658368C>T	ExAC,TOPMed,gnomAD
rs769730810	p.Arg360Cys	missense variant	-	NC_000017.11:g.75658369G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1247198793	p.Leu361Phe	missense variant	-	NC_000017.11:g.75658366G>A	gnomAD
rs768705080	p.Tyr362Ser	missense variant	-	NC_000017.11:g.75658362T>G	ExAC,gnomAD
rs768705080	p.Tyr362Cys	missense variant	-	NC_000017.11:g.75658362T>C	ExAC,gnomAD
rs1443817723	p.Tyr363Cys	missense variant	-	NC_000017.11:g.75658359T>C	gnomAD
rs778479063	p.Arg368Trp	missense variant	-	NC_000017.11:g.75658345G>A	ExAC,TOPMed,gnomAD
rs757624935	p.Arg368Gln	missense variant	-	NC_000017.11:g.75658344C>T	ExAC,TOPMed,gnomAD
rs1297346366	p.Asp369Glu	missense variant	-	NC_000017.11:g.75658340G>C	gnomAD
rs1453597155	p.Ser372Ile	missense variant	-	NC_000017.11:g.75658332C>A	gnomAD
rs1252295505	p.Ser372Gly	missense variant	-	NC_000017.11:g.75658333T>C	TOPMed,gnomAD
rs764641891	p.Arg376Ser	missense variant	-	NC_000017.11:g.75658319C>A	ExAC,gnomAD
rs554407453	p.Arg376Gly	missense variant	-	NC_000017.11:g.75658321T>C	gnomAD
rs756591228	p.Lys377Asn	missense variant	-	NC_000017.11:g.75658316C>A	NCI-TCGA
rs756591228	p.Lys377Asn	missense variant	-	NC_000017.11:g.75658316C>A	ExAC,gnomAD
rs1485877406	p.Glu384Gln	missense variant	-	NC_000017.11:g.75651265C>G	TOPMed
NCI-TCGA novel	p.Lys385Glu	missense variant	-	NC_000017.11:g.75651262T>C	NCI-TCGA
rs1482477593	p.Lys385Asn	missense variant	-	NC_000017.11:g.75651260C>A	gnomAD
rs778605465	p.Arg386Lys	missense variant	-	NC_000017.11:g.75651258C>T	ExAC,gnomAD
rs756888974	p.Asp392Gly	missense variant	-	NC_000017.11:g.75651240T>C	ExAC,TOPMed,gnomAD
rs938039888	p.Lys393Asn	missense variant	-	NC_000017.11:g.75651236T>G	TOPMed
rs749699930	p.Ala394Pro	missense variant	-	NC_000017.11:g.75651235C>G	ExAC,gnomAD
rs756459645	p.Thr395Ala	missense variant	-	NC_000017.11:g.75651232T>C	ExAC,TOPMed,gnomAD
rs781678454	p.Ala398Gly	missense variant	-	NC_000017.11:g.75651222G>C	ExAC,gnomAD
rs781678454	p.Ala398Val	missense variant	-	NC_000017.11:g.75651222G>A	ExAC,gnomAD
rs755015591	p.Phe399Leu	missense variant	-	NC_000017.11:g.75651220A>G	ExAC,TOPMed,gnomAD
rs1350022379	p.Val403Leu	missense variant	-	NC_000017.11:g.75651208C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Phe405Leu	missense variant	-	NC_000017.11:g.75651200G>C	NCI-TCGA
COSM1480010	p.Phe405Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75651200G>T	NCI-TCGA Cosmic
rs1347849780	p.Gly410Trp	missense variant	-	NC_000017.11:g.75651187C>A	TOPMed,gnomAD
rs765733002	p.Arg412His	missense variant	-	NC_000017.11:g.75631663C>T	ExAC,TOPMed,gnomAD
rs750936583	p.Arg412Cys	missense variant	-	NC_000017.11:g.75631664G>A	ExAC,gnomAD
rs1347610459	p.His413Tyr	missense variant	-	NC_000017.11:g.75631661G>A	gnomAD
rs776670866	p.Ala415Thr	missense variant	-	NC_000017.11:g.75631655C>T	ExAC,gnomAD
rs1324717460	p.Ala417Thr	missense variant	-	NC_000017.11:g.75631649C>T	gnomAD
rs764418102	p.Lys418Glu	missense variant	-	NC_000017.11:g.75631646T>C	ExAC,TOPMed,gnomAD
rs1396725975	p.Lys418Arg	missense variant	-	NC_000017.11:g.75631645T>C	gnomAD
rs192546084	p.Phe420Leu	missense variant	-	NC_000017.11:g.75631638G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs760840118	p.Phe420Leu	missense variant	-	NC_000017.11:g.75631640A>G	ExAC,gnomAD
rs1390584538	p.Gly421Val	missense variant	-	NC_000017.11:g.75631636C>A	gnomAD
rs200877940	p.Gly421Arg	missense variant	-	NC_000017.11:g.75631637C>T	ESP,ExAC,TOPMed,gnomAD
rs749023712	p.Ala423Glu	missense variant	-	NC_000017.11:g.75631630G>T	ExAC,gnomAD
rs749023712	p.Ala423Val	missense variant	-	NC_000017.11:g.75631630G>A	ExAC,gnomAD
rs1187628477	p.Pro425Thr	missense variant	-	NC_000017.11:g.75631625G>T	gnomAD
rs780533278	p.Cys427Tyr	missense variant	-	NC_000017.11:g.75631618C>T	ExAC,TOPMed,gnomAD
rs201206387	p.Ala428Thr	missense variant	-	NC_000017.11:g.75631616C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1465456766	p.Gly430Asp	missense variant	-	NC_000017.11:g.75631609C>T	TOPMed
COSM4069609	p.Cys431Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75631606C>T	NCI-TCGA Cosmic
rs1274180688	p.Cys431Arg	missense variant	-	NC_000017.11:g.75631607A>G	gnomAD
rs371987831	p.Asp432Asn	missense variant	-	NC_000017.11:g.75631604C>T	ESP,ExAC,TOPMed,gnomAD
rs1408251786	p.His433Arg	missense variant	-	NC_000017.11:g.75631600T>C	TOPMed
NCI-TCGA novel	p.Gln435Lys	missense variant	-	NC_000017.11:g.75631595G>T	NCI-TCGA
rs1245604720	p.Gln435Glu	missense variant	-	NC_000017.11:g.75631595G>C	gnomAD
rs539681330	p.Thr438Met	missense variant	-	NC_000017.11:g.75631585G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs199937273	p.Thr438Ala	missense variant	-	NC_000017.11:g.75631586T>C	ExAC,TOPMed,gnomAD
rs369338098	p.Ala439Thr	missense variant	-	NC_000017.11:g.75631583C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs760749078	p.Val440Met	missense variant	-	NC_000017.11:g.75631580C>T	ExAC,gnomAD
rs371913117	p.Arg441Trp	missense variant	-	NC_000017.11:g.75631577G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs561734427	p.Arg441Pro	missense variant	-	NC_000017.11:g.75631576C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs561734427	p.Arg441Gln	missense variant	-	NC_000017.11:g.75631576C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs368486497	p.Arg443Trp	missense variant	-	NC_000017.11:g.75631571G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs202152201	p.Arg443Gln	missense variant	-	NC_000017.11:g.75631570C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761869603	p.Leu444Val	missense variant	-	NC_000017.11:g.75631568G>C	ExAC,gnomAD
rs768058549	p.Glu448Gln	missense variant	-	NC_000017.11:g.75631556C>G	ExAC,TOPMed,gnomAD
rs746528413	p.Arg449Cys	missense variant	-	NC_000017.11:g.75631553G>A	ExAC,gnomAD
rs372347188	p.Arg449Pro	missense variant	-	NC_000017.11:g.75631552C>G	ESP,ExAC,TOPMed,gnomAD
rs372347188	p.Arg449Leu	missense variant	-	NC_000017.11:g.75631552C>A	ESP,ExAC,TOPMed,gnomAD
rs372347188	p.Arg449His	missense variant	-	NC_000017.11:g.75631552C>T	ESP,ExAC,TOPMed,gnomAD
rs746275634	p.Ser450Gly	missense variant	-	NC_000017.11:g.75631550T>C	ExAC,gnomAD
COSM3692030	p.Ser450Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75631549C>T	NCI-TCGA Cosmic
rs1291479590	p.Ser452Asn	missense variant	-	NC_000017.11:g.75631543C>T	gnomAD
rs1373954176	p.Trp453Ter	stop gained	-	NC_000017.11:g.75631540C>T	TOPMed,gnomAD
rs1232803733	p.Trp453Arg	missense variant	-	NC_000017.11:g.75631541A>G	gnomAD
rs757571808	p.Thr456Ser	missense variant	-	NC_000017.11:g.75631532T>A	ExAC
rs754317656	p.Ile458Thr	missense variant	-	NC_000017.11:g.75631525A>G	ExAC,gnomAD
rs752804710	p.Gly459Trp	missense variant	-	NC_000017.11:g.75631523C>A	ExAC,TOPMed,gnomAD
rs752804710	p.Gly459Arg	missense variant	-	NC_000017.11:g.75631523C>T	ExAC,TOPMed,gnomAD
rs868819468	p.Gly459Glu	missense variant	-	NC_000017.11:g.75631522C>T	TOPMed,gnomAD
rs917922038	p.Gln462Glu	missense variant	-	NC_000017.11:g.75631514G>C	TOPMed
rs1401250427	p.Gln462His	missense variant	-	NC_000017.11:g.75631512C>G	gnomAD
rs917922038	p.Gln462Ter	stop gained	-	NC_000017.11:g.75631514G>A	TOPMed
rs1175237184	p.Gln462Arg	missense variant	-	NC_000017.11:g.75631513T>C	TOPMed,gnomAD
rs747152535	p.Asn464Lys	missense variant	-	NC_000017.11:g.75631506G>T	gnomAD
rs759800749	p.Gly465Ser	missense variant	-	NC_000017.11:g.75631505C>T	ExAC,TOPMed,gnomAD
rs367690981	p.Asp467Glu	missense variant	-	NC_000017.11:g.75631497G>T	ESP,ExAC,TOPMed,gnomAD
rs751790460	p.Asp467Ala	missense variant	-	NC_000017.11:g.75631498T>G	ExAC,gnomAD
rs761636295	p.Pro468Ser	missense variant	-	NC_000017.11:g.75631496G>A	ExAC,gnomAD
rs959410822	p.Pro468Leu	missense variant	-	NC_000017.11:g.75631495G>A	gnomAD
rs760152507	p.Glu469Ter	stop gained	-	NC_000017.11:g.75631493C>A	ExAC,TOPMed,gnomAD
rs760152507	p.Glu469Lys	missense variant	-	NC_000017.11:g.75631493C>T	ExAC,TOPMed,gnomAD
rs1271570917	p.Leu470Pro	missense variant	-	NC_000017.11:g.75631489A>G	gnomAD
rs545985307	p.Tyr471Cys	missense variant	-	NC_000017.11:g.75631486T>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Glu472Ala	missense variant	-	NC_000017.11:g.75631483T>G	NCI-TCGA
rs778482757	p.Glu472Asp	missense variant	-	NC_000017.11:g.75631482C>G	ExAC,TOPMed,gnomAD
rs745544661	p.Glu472Lys	missense variant	-	NC_000017.11:g.75631484C>T	ExAC
rs1326260732	p.Gly473Ala	missense variant	-	NC_000017.11:g.75631480C>G	TOPMed
rs771287576	p.Gly474Asp	missense variant	-	NC_000017.11:g.75631477C>T	ExAC,TOPMed,gnomAD
rs370397932	p.Arg475Cys	missense variant	-	NC_000017.11:g.75631475G>A	ESP,ExAC,TOPMed,gnomAD
rs778197565	p.Arg475Leu	missense variant	-	NC_000017.11:g.75631474C>A	ExAC,TOPMed,gnomAD
rs778197565	p.Arg475His	missense variant	-	NC_000017.11:g.75631474C>T	ExAC,TOPMed,gnomAD
rs1442890317	p.Gly477Asp	missense variant	-	NC_000017.11:g.75631468C>T	gnomAD
rs752759372	p.Tyr478Ter	stop gained	-	NC_000017.11:g.75631464G>C	ExAC,TOPMed,gnomAD
rs756618668	p.Tyr478Phe	missense variant	-	NC_000017.11:g.75631465T>A	ExAC,gnomAD
rs781452311	p.Gly479Arg	missense variant	-	NC_000017.11:g.75631463C>T	ExAC,TOPMed,gnomAD
rs755059039	p.Gly479Glu	missense variant	-	NC_000017.11:g.75631462C>T	ExAC,gnomAD
rs751843297	p.Asp480His	missense variant	-	NC_000017.11:g.75631460C>G	ExAC,gnomAD
rs820196	p.Asp480Gly	missense variant	-	NC_000017.11:g.75631459T>C	UniProt,dbSNP
VAR_024272	p.Asp480Gly	missense variant	-	NC_000017.11:g.75631459T>C	UniProt
rs820196	p.Asp480Gly	missense variant	-	NC_000017.11:g.75631459T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs820196	p.Asp480Val	missense variant	-	NC_000017.11:g.75631459T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753645586	p.Phe481Ile	missense variant	-	NC_000017.11:g.75631457A>T	ExAC,TOPMed,gnomAD
rs1293083582	p.Asp485Gly	missense variant	-	NC_000017.11:g.75631244T>C	gnomAD
rs772691086	p.Glu486Lys	missense variant	-	NC_000017.11:g.75631242C>T	ExAC,TOPMed,gnomAD
rs199924706	p.Gly487Ser	missense variant	-	NC_000017.11:g.75631239C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser488Phe	missense variant	-	NC_000017.11:g.75631235G>A	NCI-TCGA
rs756694533	p.Gly490Val	missense variant	-	NC_000017.11:g.75631229C>A	ExAC,TOPMed,gnomAD
rs756694533	p.Gly490Asp	missense variant	-	NC_000017.11:g.75631229C>T	ExAC,TOPMed,gnomAD
rs777336988	p.Ser491Ile	missense variant	-	NC_000017.11:g.75631226C>A	ExAC,TOPMed,gnomAD
rs777336988	p.Ser491Asn	missense variant	-	NC_000017.11:g.75631226C>T	ExAC,TOPMed,gnomAD
rs371629061	p.Gly492Arg	missense variant	-	NC_000017.11:g.75631224C>T	ESP,ExAC,TOPMed,gnomAD
rs371629061	p.Gly492Arg	missense variant	-	NC_000017.11:g.75631224C>G	ESP,ExAC,TOPMed,gnomAD
rs1462866613	p.Gly495Asp	missense variant	-	NC_000017.11:g.75631214C>T	gnomAD
rs1356486722	p.Arg496Ser	missense variant	-	NC_000017.11:g.75631210T>A	gnomAD
rs1201840146	p.Arg496Lys	missense variant	-	NC_000017.11:g.75631211C>T	TOPMed
rs780312105	p.Glu498Lys	missense variant	-	NC_000017.11:g.75631206C>T	ExAC,gnomAD
rs758365826	p.Ala499Thr	missense variant	-	NC_000017.11:g.75631203C>T	ExAC,gnomAD
rs746119701	p.Ala499Val	missense variant	-	NC_000017.11:g.75631202G>A	ExAC,gnomAD
rs1189927914	p.Lys501Arg	missense variant	-	NC_000017.11:g.75631196T>C	gnomAD
rs200732170	p.Arg502Gln	missense variant	-	NC_000017.11:g.75631193C>T	ESP,TOPMed,gnomAD
COSM1470952	p.Glu503Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75631191C>G	NCI-TCGA Cosmic
rs1474172874	p.Glu503Gly	missense variant	-	NC_000017.11:g.75631190T>C	gnomAD
rs778939229	p.Asn505Tyr	missense variant	-	NC_000017.11:g.75631185T>A	ExAC,gnomAD
rs756007035	p.Asn505Lys	missense variant	-	NC_000017.11:g.75631183G>T	ExAC,gnomAD
rs778939229	p.Asn505Asp	missense variant	-	NC_000017.11:g.75631185T>C	ExAC,gnomAD
rs752474003	p.Leu506His	missense variant	-	NC_000017.11:g.75631181A>T	ExAC,TOPMed,gnomAD
rs754875341	p.Phe507Leu	missense variant	-	NC_000017.11:g.75631179A>G	ExAC,gnomAD
rs1476573506	p.Phe507Ser	missense variant	-	NC_000017.11:g.75631178A>G	TOPMed
rs1168861745	p.Gln509Arg	missense variant	-	NC_000017.11:g.75631172T>C	TOPMed
rs751455046	p.Met512Leu	missense variant	-	NC_000017.11:g.75631164T>G	ExAC,gnomAD
rs201834853	p.Met512Ile	missense variant	-	NC_000017.11:g.75631162C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762312156	p.Gln513Pro	missense variant	-	NC_000017.11:g.75631160T>G	ExAC,gnomAD
rs1296301537	p.Gln513Ter	stop gained	-	NC_000017.11:g.75631161G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Leu514Pro	missense variant	-	NC_000017.11:g.75631157A>G	NCI-TCGA
rs1395556886	p.Leu514Arg	missense variant	-	NC_000017.11:g.75631157A>C	gnomAD
rs762318934	p.Arg515His	missense variant	-	NC_000017.11:g.75631154C>T	ExAC,TOPMed,gnomAD
rs762318934	p.Arg515Leu	missense variant	-	NC_000017.11:g.75631154C>A	ExAC,TOPMed,gnomAD
rs375117491	p.Arg515Cys	missense variant	-	NC_000017.11:g.75631155G>A	ESP,ExAC,TOPMed,gnomAD
rs200763829	p.Gly517Asp	missense variant	-	NC_000017.11:g.75631009C>T	TOPMed,gnomAD
COSM3522196	p.Gly517Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75631010C>T	NCI-TCGA Cosmic
rs777914006	p.Lys518Asn	missense variant	-	NC_000017.11:g.75631005T>G	ExAC,gnomAD
rs1319045378	p.Lys518Ter	stop gained	-	NC_000017.11:g.75631007T>A	gnomAD
COSM4870560	p.Asp519Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75631004C>A	NCI-TCGA Cosmic
rs768443508	p.Pro520Thr	missense variant	-	NC_000017.11:g.75631001G>T	ExAC,TOPMed,gnomAD
rs1489948307	p.Ile522Thr	missense variant	-	NC_000017.11:g.75630994A>G	TOPMed
rs780090122	p.Ile522Val	missense variant	-	NC_000017.11:g.75630995T>C	ExAC,TOPMed,gnomAD
COSM6082045	p.Ile522Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75630994A>T	NCI-TCGA Cosmic
rs758239335	p.Glu524Ala	missense variant	-	NC_000017.11:g.75630988T>G	ExAC,gnomAD
rs745778533	p.Phe525Leu	missense variant	-	NC_000017.11:g.75630984A>T	ExAC,gnomAD
rs765692918	p.Val526Ile	missense variant	-	NC_000017.11:g.75630983C>T	TOPMed,gnomAD
rs765692918	p.Val526Leu	missense variant	-	NC_000017.11:g.75630983C>A	TOPMed,gnomAD
rs778309776	p.Val526Ala	missense variant	-	NC_000017.11:g.75630982A>G	ExAC,gnomAD
rs763837183	p.Pro527Ala	missense variant	-	NC_000017.11:g.75630980G>C	ExAC,gnomAD
rs1472644658	p.Leu534Pro	missense variant	-	NC_000017.11:g.75630822A>G	gnomAD
rs1303408910	p.LysGluAlaSerSerArg535LysGluAlaSerSerArgGlyPheTerGlnUnk	stop gained	-	NC_000017.11:g.75630818_75630819insGCTAGAAGCCTCT	TOPMed,gnomAD
COSM4866708	p.Ala537Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75630813G>A	NCI-TCGA Cosmic
rs1233845831	p.Ala537Ser	missense variant	-	NC_000017.11:g.75630814C>A	gnomAD
rs1456592740	p.Ser539Cys	missense variant	-	NC_000017.11:g.75630808T>A	gnomAD
rs1179034886	p.Pro543Ala	missense variant	-	NC_000017.11:g.75630796G>C	TOPMed
rs372856742	p.Arg544Lys	missense variant	-	NC_000017.11:g.75630792C>T	ESP,TOPMed,gnomAD
rs372856742	p.Arg544Met	missense variant	-	NC_000017.11:g.75630792C>A	ESP,TOPMed,gnomAD
rs1047595064	p.Leu545Pro	missense variant	-	NC_000017.11:g.75630789A>G	TOPMed
rs761886785	p.Val547Met	missense variant	-	NC_000017.11:g.75630784C>T	ExAC,gnomAD
rs761886785	p.Val547Leu	missense variant	-	NC_000017.11:g.75630784C>G	ExAC,gnomAD
rs1300246169	p.Ala549Gly	missense variant	-	NC_000017.11:g.75630691G>C	gnomAD
rs746220717	p.Arg550Trp	missense variant	-	NC_000017.11:g.75630689G>A	ExAC,TOPMed,gnomAD
rs779340422	p.Arg550Gln	missense variant	-	NC_000017.11:g.75630688C>T	ExAC,TOPMed,gnomAD
rs1280603833	p.His552Arg	missense variant	-	NC_000017.11:g.75630682T>C	gnomAD
rs1398659180	p.Cys553Tyr	missense variant	-	NC_000017.11:g.75630679C>T	gnomAD
rs538670883	p.Arg555Gln	missense variant	-	NC_000017.11:g.75630673C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs757755394	p.Arg555Trp	missense variant	-	NC_000017.11:g.75630674G>A	ExAC,TOPMed,gnomAD
COSM293211	p.Leu556Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75630671G>T	NCI-TCGA Cosmic
rs1357572992	p.Leu557Pro	missense variant	-	NC_000017.11:g.75630667A>G	TOPMed,gnomAD
rs951900043	p.Glu558Val	missense variant	-	NC_000017.11:g.75630664T>A	gnomAD
rs951900043	p.Glu558Gly	missense variant	-	NC_000017.11:g.75630664T>C	gnomAD
rs752969417	p.Ala560Val	missense variant	-	NC_000017.11:g.75630658G>A	ExAC,TOPMed,gnomAD
rs1191652481	p.Leu561Arg	missense variant	-	NC_000017.11:g.75630655A>C	gnomAD
rs1177989475	p.Ser562Thr	missense variant	-	NC_000017.11:g.75630652C>G	TOPMed
rs1402458870	p.Asn564His	missense variant	-	NC_000017.11:g.75630647T>G	TOPMed
rs750219422	p.Arg565His	missense variant	-	NC_000017.11:g.75630643C>T	ExAC,TOPMed,gnomAD
rs765126212	p.Gln566Lys	missense variant	-	NC_000017.11:g.75630641G>T	ExAC,TOPMed,gnomAD
rs776375606	p.Arg569Cys	missense variant	-	NC_000017.11:g.75630632G>A	ExAC,TOPMed,gnomAD
rs776375606	p.Arg569Gly	missense variant	-	NC_000017.11:g.75630632G>C	ExAC,TOPMed,gnomAD
rs368304075	p.Arg569His	missense variant	-	NC_000017.11:g.75630631C>T	ESP,ExAC,gnomAD
rs760175418	p.Thr570Asn	missense variant	-	NC_000017.11:g.75630628G>T	ExAC,TOPMed,gnomAD
rs760175418	p.Thr570Ile	missense variant	-	NC_000017.11:g.75630628G>A	ExAC,TOPMed,gnomAD
rs771692549	p.Ala571Thr	missense variant	-	NC_000017.11:g.75630626C>T	ExAC,TOPMed,gnomAD
rs771692549	p.Ala571Ser	missense variant	-	NC_000017.11:g.75630626C>A	ExAC,TOPMed,gnomAD
rs993293271	p.Asp572Asn	missense variant	-	NC_000017.11:g.75630623C>T	TOPMed
NCI-TCGA novel	p.Glu573Asp	missense variant	-	NC_000017.11:g.75630277T>G	NCI-TCGA
rs1340442661	p.Glu573Val	missense variant	-	NC_000017.11:g.75630619T>A	gnomAD
COSM3522195	p.Glu573Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75630620C>T	NCI-TCGA Cosmic
rs1265440218	p.Ala574Thr	missense variant	-	NC_000017.11:g.75630276C>T	gnomAD
rs1240124291	p.Ala574Gly	missense variant	-	NC_000017.11:g.75630275G>C	TOPMed,gnomAD
rs1240124291	p.Ala574Val	missense variant	-	NC_000017.11:g.75630275G>A	TOPMed,gnomAD
rs763219972	p.Asp575Asn	missense variant	-	NC_000017.11:g.75630273C>T	ExAC,gnomAD
rs763219972	p.Asp575Tyr	missense variant	-	NC_000017.11:g.75630273C>A	ExAC,gnomAD
rs1307289759	p.Leu576Ile	missense variant	-	NC_000017.11:g.75630270G>T	gnomAD
rs199975622	p.Arg577Gln	missense variant	-	NC_000017.11:g.75630266C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs773824180	p.Arg577Trp	missense variant	-	NC_000017.11:g.75630267G>A	ExAC,TOPMed,gnomAD
rs1303482797	p.Ala578Thr	missense variant	-	NC_000017.11:g.75630264C>T	gnomAD
rs1389838540	p.Lys579Asn	missense variant	-	NC_000017.11:g.75630259C>G	gnomAD
rs1385228409	p.Lys579Thr	missense variant	-	NC_000017.11:g.75630260T>G	gnomAD
rs1289385479	p.Ala580Thr	missense variant	-	NC_000017.11:g.75630258C>T	gnomAD
rs201838121	p.Val581Met	missense variant	-	NC_000017.11:g.75630255C>T	ESP,ExAC,TOPMed,gnomAD
rs867332791	p.Glu582Asp	missense variant	-	NC_000017.11:g.75630250C>A	gnomAD
rs768807130	p.Leu583Val	missense variant	-	NC_000017.11:g.75630249G>C	ExAC,TOPMed,gnomAD
rs1033027666	p.Glu584Lys	missense variant	-	NC_000017.11:g.75630246C>T	TOPMed
rs541672011	p.His585Arg	missense variant	-	NC_000017.11:g.75630242T>C	1000Genomes,TOPMed,gnomAD
rs1196131415	p.Glu586Asp	missense variant	-	NC_000017.11:g.75630238C>G	TOPMed,gnomAD
rs1432098292	p.Thr587Ile	missense variant	-	NC_000017.11:g.75630236G>A	gnomAD
rs867557060	p.Phe588Leu	missense variant	-	NC_000017.11:g.75630232G>T	gnomAD
rs376329051	p.Phe588Leu	missense variant	-	NC_000017.11:g.75630234A>G	ESP
rs757135549	p.Arg589Gln	missense variant	-	NC_000017.11:g.75630230C>T	ExAC,TOPMed,gnomAD
rs780135537	p.Arg589Trp	missense variant	-	NC_000017.11:g.75630231G>A	ExAC,TOPMed,gnomAD
rs1490184759	p.Asn590Thr	missense variant	-	NC_000017.11:g.75630227T>G	TOPMed
rs753556734	p.Ala591Thr	missense variant	-	NC_000017.11:g.75630225C>T	ExAC,TOPMed,gnomAD
rs868116990	p.Ala594Val	missense variant	-	NC_000017.11:g.75630215G>A	gnomAD
rs1287298043	p.Ala594Thr	missense variant	-	NC_000017.11:g.75630216C>T	TOPMed,gnomAD
rs868116990	p.Ala594Asp	missense variant	-	NC_000017.11:g.75630215G>T	gnomAD
rs756081090	p.Asn595Ser	missense variant	-	NC_000017.11:g.75630212T>C	ExAC,gnomAD
rs373371319	p.Asn595Asp	missense variant	-	NC_000017.11:g.75630213T>C	ESP,TOPMed,gnomAD
rs1363439135	p.Leu596His	missense variant	-	NC_000017.11:g.75630209A>T	TOPMed
rs754181243	p.Ala599Val	missense variant	-	NC_000017.11:g.75630200G>A	gnomAD
rs754181243	p.Ala599Asp	missense variant	-	NC_000017.11:g.75630200G>T	gnomAD
rs773370158	p.Val601Met	missense variant	-	NC_000017.11:g.75630195C>T	TOPMed,gnomAD
rs1195273903	p.Lys604Asn	missense variant	-	NC_000017.11:g.75630184C>G	gnomAD
rs545767779	p.Val605Met	missense variant	-	NC_000017.11:g.75629842C>T	1000Genomes,ExAC,gnomAD
rs762543250	p.Val605Gly	missense variant	-	NC_000017.11:g.75629841A>C	ExAC,TOPMed,gnomAD
rs921759641	p.Asp607Asn	missense variant	-	NC_000017.11:g.75629836C>T	TOPMed,gnomAD
rs765709208	p.Asp607Glu	missense variant	-	NC_000017.11:g.75629834A>C	ExAC,gnomAD
rs1326039650	p.Ile608Thr	missense variant	-	NC_000017.11:g.75629832A>G	TOPMed,gnomAD
rs762265679	p.His609Arg	missense variant	-	NC_000017.11:g.75629829T>C	ExAC,gnomAD
rs1406435366	p.His609Tyr	missense variant	-	NC_000017.11:g.75629830G>A	gnomAD
rs532494160	p.Ala611Val	missense variant	-	NC_000017.11:g.75629823G>A	1000Genomes,ExAC,gnomAD
rs760851276	p.Ser612Phe	missense variant	-	NC_000017.11:g.75629820G>A	ExAC,gnomAD
rs760851276	p.Ser612Cys	missense variant	-	NC_000017.11:g.75629820G>C	ExAC,gnomAD
rs775466364	p.Lys613Glu	missense variant	-	NC_000017.11:g.75629818T>C	ExAC,TOPMed,gnomAD
rs775466364	p.Lys613Gln	missense variant	-	NC_000017.11:g.75629818T>G	ExAC,TOPMed,gnomAD
rs1456469911	p.Asp614Asn	missense variant	-	NC_000017.11:g.75629815C>T	TOPMed,gnomAD
rs1237608682	p.Asp614Gly	missense variant	-	NC_000017.11:g.75629814T>C	gnomAD
rs1267293968	p.Gly615Glu	missense variant	-	NC_000017.11:g.75629811C>T	gnomAD
rs1222468833	p.Gly615Arg	missense variant	-	NC_000017.11:g.75629812C>T	gnomAD
rs1014686447	p.Gln616Ter	stop gained	-	NC_000017.11:g.75629809G>A	TOPMed
rs1276768189	p.Pro617Ser	missense variant	-	NC_000017.11:g.75629806G>A	TOPMed
rs947248832	p.Tyr618Cys	missense variant	-	NC_000017.11:g.75629802T>C	TOPMed,gnomAD
rs1287646427	p.Met620Ile	missense variant	-	NC_000017.11:g.75629795C>T	gnomAD
rs746094436	p.Ser623Asn	missense variant	-	NC_000017.11:g.75629787C>T	ExAC,gnomAD
rs1310943107	p.Ala624Pro	missense variant	-	NC_000017.11:g.75629785C>G	gnomAD
rs1281852689	p.Lys625Asn	missense variant	-	NC_000017.11:g.75629780C>G	TOPMed,gnomAD
rs35566780	p.Ser628Asn	missense variant	-	NC_000017.11:g.75629772C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs35566780	p.Ser628Asn	missense variant	-	NC_000017.11:g.75629772C>T	UniProt,dbSNP
VAR_051733	p.Ser628Asn	missense variant	-	NC_000017.11:g.75629772C>T	UniProt
rs747922592	p.Ala629Ser	missense variant	-	NC_000017.11:g.75629770C>A	ExAC,gnomAD
rs1352060084	p.Glu632Lys	missense variant	-	NC_000017.11:g.75629761C>T	gnomAD
rs1200395286	p.Pro633Arg	missense variant	-	NC_000017.11:g.75629757G>C	TOPMed
rs754838947	p.Pro634Leu	missense variant	-	NC_000017.11:g.75629754G>A	ExAC,gnomAD
rs757867539	p.Glu635Gly	missense variant	-	NC_000017.11:g.75629751T>C	ExAC,gnomAD
rs779451535	p.Glu635Lys	missense variant	-	NC_000017.11:g.75629752C>T	ExAC,gnomAD
rs750168254	p.Glu635Asp	missense variant	-	NC_000017.11:g.75629750C>A	ExAC,gnomAD
rs757746264	p.Asn637Lys	missense variant	-	NC_000017.11:g.75629744A>T	ExAC,gnomAD
rs199545184	p.Asn637Ser	missense variant	-	NC_000017.11:g.75629745T>C	ESP,ExAC,TOPMed,gnomAD
rs754226222	p.Glu638Asp	missense variant	-	NC_000017.11:g.75629741C>A	ExAC,TOPMed,gnomAD
rs1198110296	p.Glu638Ter	stop gained	-	NC_000017.11:g.75629743C>A	gnomAD
rs754226222	p.Glu638Asp	missense variant	-	NC_000017.11:g.75629741C>G	ExAC,TOPMed,gnomAD
rs1287863020	p.Tyr639Cys	missense variant	-	NC_000017.11:g.75629739T>C	gnomAD
rs1214248934	p.Asp640Gly	missense variant	-	NC_000017.11:g.75629736T>C	gnomAD
rs374663232	p.Ile641Val	missense variant	-	NC_000017.11:g.75629734T>C	ESP,ExAC,TOPMed,gnomAD
rs1162774995	p.Pro642Ala	missense variant	-	NC_000017.11:g.75629731G>C	TOPMed
COSM1480009	p.Pro643Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75629728G>A	NCI-TCGA Cosmic
rs1324632786	p.His646Tyr	missense variant	-	NC_000017.11:g.75629719G>A	gnomAD
rs761112356	p.His646Leu	missense variant	-	NC_000017.11:g.75629718T>A	ExAC,gnomAD
rs767503954	p.Val647Ala	missense variant	-	NC_000017.11:g.75629715A>G	ExAC,gnomAD
rs759603217	p.Tyr648Ter	stop gained	-	NC_000017.11:g.75629711G>C	ExAC,gnomAD
rs1385143221	p.Tyr648Ser	missense variant	-	NC_000017.11:g.75629712T>G	TOPMed
rs774610615	p.Ser649Ter	stop gained	-	NC_000017.11:g.75629709G>T	ExAC,gnomAD
rs774610615	p.Ser649Leu	missense variant	-	NC_000017.11:g.75629709G>A	ExAC,gnomAD
rs77417209	p.Arg654Trp	missense variant	-	NC_000017.11:g.75629463G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs376193547	p.Arg654Pro	missense variant	-	NC_000017.11:g.75629462C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376193547	p.Arg654Gln	missense variant	-	NC_000017.11:g.75629462C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly658Val	missense variant	-	NC_000017.11:g.75629450C>A	NCI-TCGA
NCI-TCGA novel	p.Phe659Ile	missense variant	-	NC_000017.11:g.75629448A>T	NCI-TCGA
rs1360413953	p.Phe659Ser	missense variant	-	NC_000017.11:g.75629447A>G	TOPMed
rs533692268	p.Gly662Val	missense variant	-	NC_000017.11:g.75629438C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1008681987	p.Cys664Ser	missense variant	-	NC_000017.11:g.75629433A>T	TOPMed
rs201916143	p.Pro665Gln	missense variant	-	NC_000017.11:g.75629429G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201916143	p.Pro665Leu	missense variant	-	NC_000017.11:g.75629429G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs760506804	p.Phe666Leu	missense variant	-	NC_000017.11:g.75629427A>G	ExAC,gnomAD
rs775339803	p.Phe666Leu	missense variant	-	NC_000017.11:g.75629425G>T	ExAC,gnomAD
rs369666779	p.Thr668Met	missense variant	-	NC_000017.11:g.75629420G>A	ESP,ExAC,TOPMed,gnomAD
rs778590962	p.Ala669Thr	missense variant	-	NC_000017.11:g.75629418C>T	ExAC,TOPMed,gnomAD
rs1458729785	p.Ala669Val	missense variant	-	NC_000017.11:g.75629417G>A	gnomAD
rs770510555	p.Thr670Met	missense variant	-	NC_000017.11:g.75629414G>A	ExAC,gnomAD
rs756488718	p.Leu672Val	missense variant	-	NC_000017.11:g.75629409G>C	ExAC,TOPMed,gnomAD
rs756488718	p.Leu672Met	missense variant	-	NC_000017.11:g.75629409G>T	ExAC,TOPMed,gnomAD
rs900284001	p.Met673Thr	missense variant	-	NC_000017.11:g.75629405A>G	gnomAD
rs1287280559	p.Met673Val	missense variant	-	NC_000017.11:g.75629406T>C	gnomAD
rs1313863377	p.Met673Ile	missense variant	-	NC_000017.11:g.75629404C>T	gnomAD
rs1377168709	p.Glu674Val	missense variant	-	NC_000017.11:g.75629402T>A	gnomAD
rs753080478	p.Glu674Gln	missense variant	-	NC_000017.11:g.75629403C>G	ExAC,gnomAD
rs781586764	p.Thr675Ile	missense variant	-	NC_000017.11:g.75629399G>A	ExAC,TOPMed,gnomAD
rs931627087	p.Thr676Ile	missense variant	-	NC_000017.11:g.75629396G>A	TOPMed
rs538753860	p.Arg677Gly	missense variant	-	NC_000017.11:g.75629394G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs538753860	p.Arg677Trp	missense variant	-	NC_000017.11:g.75629394G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs766459582	p.Arg677Gln	missense variant	-	NC_000017.11:g.75629393C>T	ExAC,TOPMed,gnomAD
rs762953179	p.Ile678Val	missense variant	-	NC_000017.11:g.75629391T>C	ExAC,TOPMed,gnomAD
rs762953179	p.Ile678Phe	missense variant	-	NC_000017.11:g.75629391T>A	ExAC,TOPMed,gnomAD
rs1166645835	p.Arg679Gly	missense variant	-	NC_000017.11:g.75629388T>C	gnomAD
rs1178900510	p.Ala682Val	missense variant	-	NC_000017.11:g.75629378G>A	TOPMed,gnomAD
rs750677184	p.Ala682Thr	missense variant	-	NC_000017.11:g.75629379C>T	ExAC,gnomAD
rs765475986	p.Pro683Arg	missense variant	-	NC_000017.11:g.75629375G>C	ExAC,gnomAD
rs775388274	p.Glu686Lys	missense variant	-	NC_000017.11:g.75629367C>T	ExAC,TOPMed,gnomAD
rs775388274	p.Glu686Gln	missense variant	-	NC_000017.11:g.75629367C>G	ExAC,TOPMed,gnomAD
rs373451755	p.Arg687Trp	missense variant	-	NC_000017.11:g.75629364G>A	ESP,ExAC,TOPMed,gnomAD
rs34941411	p.Arg687Pro	missense variant	-	NC_000017.11:g.75629363C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs34941411	p.Arg687Gln	missense variant	-	NC_000017.11:g.75629363C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748813871	p.Gly689Val	missense variant	-	NC_000017.11:g.75629357C>A	ExAC
rs770636896	p.Gly689Cys	missense variant	-	NC_000017.11:g.75629358C>A	ExAC
rs769454042	p.Glu690Lys	missense variant	-	NC_000017.11:g.75629355C>T	ExAC,gnomAD
rs1308112096	p.Glu690Ala	missense variant	-	NC_000017.11:g.75629354T>G	TOPMed
rs747712708	p.His691Arg	missense variant	-	NC_000017.11:g.75629351T>C	ExAC
rs747712708	p.His691Leu	missense variant	-	NC_000017.11:g.75629351T>A	ExAC
rs4788902	p.His691Gln	missense variant	-	NC_000017.11:g.75629350G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780534135	p.Glu692Asp	missense variant	-	NC_000017.11:g.75629347C>A	ExAC,TOPMed,gnomAD
rs567932731	p.Glu692Lys	missense variant	-	NC_000017.11:g.75629349C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs750485039	p.Pro693Ser	missense variant	-	NC_000017.11:g.75629346G>A	ExAC,TOPMed,gnomAD
rs750485039	p.Pro693Thr	missense variant	-	NC_000017.11:g.75629346G>T	ExAC,TOPMed,gnomAD
rs1263807814	p.Pro694Ala	missense variant	-	NC_000017.11:g.75629343G>C	TOPMed
COSM1223492	p.Pro694Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75629343G>A	NCI-TCGA Cosmic
rs199608835	p.Pro694Leu	missense variant	-	NC_000017.11:g.75629342G>A	ESP,ExAC,TOPMed,gnomAD
rs199608835	p.Pro694Gln	missense variant	-	NC_000017.11:g.75629342G>T	ESP,ExAC,TOPMed,gnomAD
rs376208710	p.Arg696Trp	missense variant	-	NC_000017.11:g.75629337G>A	ESP,ExAC,TOPMed,gnomAD
rs1456160196	p.Arg696Pro	missense variant	-	NC_000017.11:g.75629336C>G	gnomAD
COSM3421907	p.Pro697Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75629334G>A	NCI-TCGA Cosmic
rs1159076259	p.Cys698Phe	missense variant	-	NC_000017.11:g.75629330C>A	gnomAD
rs940208657	p.Leu700Phe	missense variant	-	NC_000017.11:g.75629325G>A	gnomAD
rs940208657	p.Leu700Val	missense variant	-	NC_000017.11:g.75629325G>C	gnomAD
rs767427530	p.Glu703Lys	missense variant	-	NC_000017.11:g.75629316C>T	ExAC,gnomAD
COSM984396	p.Glu703Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75629314C>A	NCI-TCGA Cosmic
rs759405070	p.Asp704Gly	missense variant	-	NC_000017.11:g.75629312T>C	ExAC,gnomAD
rs774491806	p.Gly705Arg	missense variant	-	NC_000017.11:g.75629310C>T	ExAC,gnomAD
rs766393153	p.Glu707Ter	stop gained	-	NC_000017.11:g.75629304C>A	ExAC,TOPMed,gnomAD
rs1487816663	p.Pro710Leu	missense variant	-	NC_000017.11:g.75629294G>A	gnomAD
rs1423787253	p.Pro712Ser	missense variant	-	NC_000017.11:g.75629289G>A	TOPMed
rs772806922	p.Gly714Arg	missense variant	-	NC_000017.11:g.75629283C>T	ExAC,gnomAD
rs772806922	p.Gly714Arg	missense variant	-	NC_000017.11:g.75629283C>G	ExAC,gnomAD
rs374104768	p.Val716Ile	missense variant	-	NC_000017.11:g.75629277C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM3522193	p.Gly719Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75629268C>T	NCI-TCGA Cosmic
rs1344864453	p.Ala721Val	missense variant	-	NC_000017.11:g.75629261G>A	gnomAD
rs199621884	p.Ala721Thr	missense variant	-	NC_000017.11:g.75629262C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His722Tyr	missense variant	-	NC_000017.11:g.75629259G>A	NCI-TCGA
rs955689445	p.His722Asp	missense variant	-	NC_000017.11:g.75629259G>C	gnomAD
rs1401619920	p.His722Arg	missense variant	-	NC_000017.11:g.75629258T>C	gnomAD
rs375303889	p.Tyr723Asn	missense variant	-	NC_000017.11:g.75629256A>T	ESP,ExAC,TOPMed,gnomAD
rs545666836	p.Tyr723Cys	missense variant	-	NC_000017.11:g.75629255T>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gly724Glu	missense variant	-	NC_000017.11:g.75629252C>T	NCI-TCGA
rs890230635	p.Gly724Ala	missense variant	-	NC_000017.11:g.75629252C>G	TOPMed,gnomAD
rs1029132514	p.Gly725Arg	missense variant	-	NC_000017.11:g.75629250C>T	TOPMed
rs746313066	p.Pro726Thr	missense variant	-	NC_000017.11:g.75629247G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser727ProPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.75629248C>-	NCI-TCGA
COSM3522192	p.Pro728Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75629240G>A	NCI-TCGA Cosmic
rs1173408897	p.Pro728Ser	missense variant	-	NC_000017.11:g.75629241G>A	gnomAD
rs779066346	p.Glu729Gln	missense variant	-	NC_000017.11:g.75629238C>G	ExAC,gnomAD
rs201026890	p.Lys730Glu	missense variant	-	NC_000017.11:g.75629235T>C	ESP,ExAC,TOPMed,gnomAD
rs201026890	p.Lys730Ter	stop gained	-	NC_000017.11:g.75629235T>A	ESP,ExAC,TOPMed,gnomAD
rs904222202	p.Lys731Asn	missense variant	-	NC_000017.11:g.75629230C>G	TOPMed,gnomAD
rs1261250743	p.Lys731Thr	missense variant	-	NC_000017.11:g.75629231T>G	gnomAD
rs1489484340	p.Lys731Glu	missense variant	-	NC_000017.11:g.75629232T>C	gnomAD
rs1257819452	p.Lys733Glu	missense variant	-	NC_000017.11:g.75629226T>C	gnomAD
rs1456663690	p.Lys733Arg	missense variant	-	NC_000017.11:g.75629225T>C	TOPMed
rs764401571	p.Ser734Arg	missense variant	-	NC_000017.11:g.75629221A>T	ExAC,gnomAD
rs964714385	p.Ser735Phe	missense variant	-	NC_000017.11:g.75629219G>A	TOPMed,gnomAD
rs1278776334	p.Ser736Phe	missense variant	-	NC_000017.11:g.75629216G>A	gnomAD
rs562639261	p.Gly738Asp	missense variant	-	NC_000017.11:g.75629210C>T	1000Genomes,ExAC,gnomAD
rs562639261	p.Gly738Val	missense variant	-	NC_000017.11:g.75629210C>A	1000Genomes,ExAC,gnomAD
rs751364769	p.Ser739Gly	missense variant	-	NC_000017.11:g.75629208T>C	ExAC,gnomAD
rs766233710	p.Ser739Asn	missense variant	-	NC_000017.11:g.75629207C>T	ExAC,gnomAD
rs573582809	p.Ser740Cys	missense variant	-	NC_000017.11:g.75629204G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs573582809	p.Ser740Phe	missense variant	-	NC_000017.11:g.75629204G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu741Phe	missense variant	-	NC_000017.11:g.75629202G>A	NCI-TCGA
rs764809290	p.Ala742Ser	missense variant	-	NC_000017.11:g.75629199C>A	ExAC,gnomAD
rs1031468094	p.Gly744Ser	missense variant	-	NC_000017.11:g.75629193C>T	TOPMed,gnomAD
rs1172051773	p.Gly744Val	missense variant	-	NC_000017.11:g.75629192C>A	gnomAD
rs762057927	p.Arg745Gln	missense variant	-	NC_000017.11:g.75629189C>T	ExAC,TOPMed,gnomAD
rs762057927	p.Arg745Leu	missense variant	-	NC_000017.11:g.75629189C>A	ExAC,TOPMed,gnomAD
rs375398949	p.Arg745Trp	missense variant	-	NC_000017.11:g.75629190G>A	ESP,ExAC,TOPMed,gnomAD
rs927135204	p.Ser747Asn	missense variant	-	NC_000017.11:g.75629183C>T	TOPMed
rs1192990904	p.Ser747Gly	missense variant	-	NC_000017.11:g.75629184T>C	gnomAD
rs775853898	p.Lys748Arg	missense variant	-	NC_000017.11:g.75629180T>C	ExAC,TOPMed,gnomAD
rs746387845	p.Lys748Asn	missense variant	-	NC_000017.11:g.75629179C>G	ExAC,gnomAD
rs746387845	p.Lys748Asn	missense variant	-	NC_000017.11:g.75629179C>A	ExAC,gnomAD
rs779281071	p.Gln750Arg	missense variant	-	NC_000017.11:g.75629174T>C	ExAC,gnomAD
rs1416129691	p.Gln750Glu	missense variant	-	NC_000017.11:g.75629175G>C	TOPMed,gnomAD
rs1416129691	p.Gln750Ter	stop gained	-	NC_000017.11:g.75629175G>A	TOPMed,gnomAD
rs757413211	p.Leu752Phe	missense variant	-	NC_000017.11:g.75629169G>A	ExAC,gnomAD
rs1445545463	p.Thr755Ile	missense variant	-	NC_000017.11:g.75629159G>A	TOPMed
rs368586303	p.Ala756Val	missense variant	-	NC_000017.11:g.75629156G>A	ESP,ExAC,TOPMed,gnomAD
rs114006902	p.His758Tyr	missense variant	-	NC_000017.11:g.75629151G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1216501702	p.Lys759Glu	missense variant	-	NC_000017.11:g.75629148T>C	TOPMed
rs1216501702	p.Lys759Ter	stop gained	-	NC_000017.11:g.75629148T>A	TOPMed
rs750442936	p.Asp760Asn	missense variant	-	NC_000017.11:g.75629145C>T	ExAC,gnomAD
rs765072951	p.Ser761Cys	missense variant	-	NC_000017.11:g.75629141G>C	ExAC,gnomAD
rs1395049669	p.Ser763Asn	missense variant	-	NC_000017.11:g.75629135C>T	TOPMed,gnomAD
rs1395049669	p.Ser763Thr	missense variant	-	NC_000017.11:g.75629135C>G	TOPMed,gnomAD
rs1208483586	p.Ser763Arg	missense variant	-	NC_000017.11:g.75629134G>C	TOPMed
rs1473336539	p.Ile764Thr	missense variant	-	NC_000017.11:g.75629132A>G	gnomAD
rs201921330	p.Ile764Phe	missense variant	-	NC_000017.11:g.75629133T>A	ESP,ExAC,TOPMed,gnomAD
rs201921330	p.Ile764Val	missense variant	-	NC_000017.11:g.75629133T>C	ESP,ExAC,TOPMed,gnomAD
rs114003047	p.Ala765Thr	missense variant	-	NC_000017.11:g.75629130C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200403434	p.Arg766Leu	missense variant	-	NC_000017.11:g.75629126C>A	ESP,ExAC,TOPMed,gnomAD
rs200403434	p.Arg766Pro	missense variant	-	NC_000017.11:g.75629126C>G	ESP,ExAC,TOPMed,gnomAD
rs200403434	p.Arg766His	missense variant	-	NC_000017.11:g.75629126C>T	ESP,ExAC,TOPMed,gnomAD
rs186857427	p.Arg766Cys	missense variant	-	NC_000017.11:g.75629127G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs186857427	p.Arg766Gly	missense variant	-	NC_000017.11:g.75629127G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs771306699	p.Phe767Leu	missense variant	-	NC_000017.11:g.75629122G>C	ExAC,gnomAD
rs774967043	p.Phe767Cys	missense variant	-	NC_000017.11:g.75629123A>C	ExAC,TOPMed,gnomAD
rs749776169	p.Cys769Tyr	missense variant	-	NC_000017.11:g.75629117C>T	ExAC,TOPMed
rs749776169	p.Cys769Ser	missense variant	-	NC_000017.11:g.75629117C>G	ExAC,TOPMed
rs202116343	p.Arg770Gln	missense variant	-	NC_000017.11:g.75629114C>T	ESP,ExAC,TOPMed,gnomAD
rs532732579	p.Arg770Ter	stop gained	-	NC_000017.11:g.75629115G>A	ExAC,TOPMed,gnomAD
rs748388173	p.Val772Met	missense variant	-	NC_000017.11:g.75629109C>T	ExAC,gnomAD
rs781267560	p.Glu773Gln	missense variant	-	NC_000017.11:g.75629106C>G	ExAC,gnomAD
rs1262831741	p.Ser774Thr	missense variant	-	NC_000017.11:g.75629102C>G	gnomAD
rs181843598	p.Pro775Leu	missense variant	-	NC_000017.11:g.75629099G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs181843598	p.Pro775Arg	missense variant	-	NC_000017.11:g.75629099G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750163342	p.Ala776Val	missense variant	-	NC_000017.11:g.75629096G>A	ExAC,gnomAD
rs34354281	p.Leu777Pro	missense variant	-	NC_000017.11:g.75629093A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763597090	p.Leu778Gln	missense variant	-	NC_000017.11:g.75629090A>T	ExAC,TOPMed,gnomAD
rs1270935470	p.Leu778Val	missense variant	-	NC_000017.11:g.75629091G>C	TOPMed
rs556638061	p.Ala779Thr	missense variant	-	NC_000017.11:g.75629088C>T	1000Genomes,ExAC
rs556638061	p.Ala779Ser	missense variant	-	NC_000017.11:g.75629088C>A	1000Genomes,ExAC
rs536207105	p.Ser780Ala	missense variant	-	NC_000017.11:g.75629085A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs201257599	p.Ser780Ter	stop gained	-	NC_000017.11:g.75629084G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs201257599	p.Ser780Ter	stop gained	-	NC_000017.11:g.75629084G>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro782ArgPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.75629077_75629078TG>-	NCI-TCGA
rs774613905	p.Pro789Ser	missense variant	-	NC_000017.11:g.75629058G>A	ExAC,gnomAD
rs1245767697	p.Ser790Phe	missense variant	-	NC_000017.11:g.75629054G>A	TOPMed
rs1289305330	p.Cys791Arg	missense variant	-	NC_000017.11:g.75629052A>G	gnomAD
COSM417985	p.Glu792Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75629049C>T	NCI-TCGA Cosmic
COSM4069606	p.Val794Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75629042A>G	NCI-TCGA Cosmic
rs773790672	p.Gln795Ter	stop gained	-	NC_000017.11:g.75629040G>A	ExAC,gnomAD
rs373069844	p.Pro798Leu	missense variant	-	NC_000017.11:g.75629030G>A	ESP,ExAC,TOPMed,gnomAD
rs964422067	p.Met799Ile	missense variant	-	NC_000017.11:g.75629026C>G	TOPMed,gnomAD
COSM3403216	p.Pro801Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75629022G>A	NCI-TCGA Cosmic
COSM4875961	p.Glu802Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75629017C>A	NCI-TCGA Cosmic
rs755122127	p.Lys803Glu	missense variant	-	NC_000017.11:g.75629016T>C	ExAC,gnomAD
rs768729269	p.Lys803Arg	missense variant	-	NC_000017.11:g.75629015T>C	ExAC,gnomAD
rs747205660	p.Thr805Ile	missense variant	-	NC_000017.11:g.75629009G>A	ExAC,gnomAD
rs778585654	p.Glu808Gln	missense variant	-	NC_000017.11:g.75629001C>G	ExAC,gnomAD
rs1418167393	p.Glu808Gly	missense variant	-	NC_000017.11:g.75629000T>C	gnomAD
rs756978892	p.Asp809Ala	missense variant	-	NC_000017.11:g.75628997T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly810Ala	missense variant	-	NC_000017.11:g.75628994C>G	NCI-TCGA
rs1319108580	p.Ala811Val	missense variant	-	NC_000017.11:g.75628991G>A	TOPMed
rs777672414	p.Gly812Arg	missense variant	-	NC_000017.11:g.75628989C>G	ExAC,TOPMed,gnomAD
rs1407319208	p.Gly812Val	missense variant	-	NC_000017.11:g.75628988C>A	TOPMed,gnomAD
rs777672414	p.Gly812Arg	missense variant	-	NC_000017.11:g.75628989C>T	ExAC,TOPMed,gnomAD
rs755666910	p.Gly813Ala	missense variant	-	NC_000017.11:g.75628985C>G	ExAC,gnomAD
rs755666910	p.Gly813Glu	missense variant	-	NC_000017.11:g.75628985C>T	ExAC,gnomAD
rs1031415891	p.His814Tyr	missense variant	-	NC_000017.11:g.75628983G>A	TOPMed,gnomAD
rs375979344	p.His814Arg	missense variant	-	NC_000017.11:g.75628982T>C	ESP,ExAC,TOPMed,gnomAD
rs375979344	p.His814Pro	missense variant	-	NC_000017.11:g.75628982T>G	ESP,ExAC,TOPMed,gnomAD
rs34802834	p.Ser815Trp	missense variant	-	NC_000017.11:g.75628979G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs34802834	p.Ser815Leu	missense variant	-	NC_000017.11:g.75628979G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766857277	p.Pro816Ser	missense variant	-	NC_000017.11:g.75628977G>A	ExAC,TOPMed,gnomAD
rs1278700655	p.Pro819Leu	missense variant	-	NC_000017.11:g.75628967G>A	gnomAD
rs773915180	p.Pro819Thr	missense variant	-	NC_000017.11:g.75628968G>T	ExAC,gnomAD
COSM3796087	p.Gln820His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75628963C>A	NCI-TCGA Cosmic
rs912554122	p.Gln820Pro	missense variant	-	NC_000017.11:g.75628964T>G	TOPMed
rs369740131	p.Glu822Asp	missense variant	-	NC_000017.11:g.75628957C>G	ESP,gnomAD
NCI-TCGA novel	p.Glu823Lys	missense variant	-	NC_000017.11:g.75628956C>T	NCI-TCGA
rs1013217545	p.Cys824Ser	missense variant	-	NC_000017.11:g.75628952C>G	TOPMed,gnomAD
rs1013217545	p.Cys824Tyr	missense variant	-	NC_000017.11:g.75628952C>T	TOPMed,gnomAD
rs199907830	p.Leu825Phe	missense variant	-	NC_000017.11:g.75628950G>A	ESP,ExAC,TOPMed,gnomAD
rs1365463456	p.Leu825Pro	missense variant	-	NC_000017.11:g.75628949A>G	TOPMed
NCI-TCGA novel	p.Arg826Met	missense variant	-	NC_000017.11:g.75628946C>A	NCI-TCGA
rs1470497892	p.Arg826Gly	missense variant	-	NC_000017.11:g.75628947T>C	TOPMed
rs1162609142	p.Arg828Lys	missense variant	-	NC_000017.11:g.75628940C>T	TOPMed
rs1291042591	p.Ser830Asn	missense variant	-	NC_000017.11:g.75628934C>T	gnomAD
rs1234593799	p.Thr831Ile	missense variant	-	NC_000017.11:g.75628760G>A	TOPMed
rs1234593799	p.Thr831Asn	missense variant	-	NC_000017.11:g.75628760G>T	TOPMed
COSM195402	p.Cys832Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75628757C>T	NCI-TCGA Cosmic
rs547473877	p.Pro833Leu	missense variant	-	NC_000017.11:g.75628754G>A	ExAC,TOPMed,gnomAD
rs377702915	p.Pro833Ser	missense variant	-	NC_000017.11:g.75628755G>A	ESP,ExAC,TOPMed,gnomAD
rs377702915	p.Pro833Thr	missense variant	-	NC_000017.11:g.75628755G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro834His	missense variant	-	NC_000017.11:g.75628751G>T	NCI-TCGA
COSM1480008	p.Pro834Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75628751G>A	NCI-TCGA Cosmic
rs202018745	p.Arg835Ter	stop gained	-	NC_000017.11:g.75628749T>A	1000Genomes
rs771802016	p.Asp836Val	missense variant	-	NC_000017.11:g.75628745T>A	ExAC,TOPMed,gnomAD
rs374476092	p.Asp836Asn	missense variant	-	NC_000017.11:g.75628746C>T	ESP,ExAC,TOPMed,gnomAD
rs1291336820	p.Asp836Glu	missense variant	-	NC_000017.11:g.75628744G>C	gnomAD
rs1318850963	p.Gly838Ser	missense variant	-	NC_000017.11:g.75628740C>T	gnomAD
rs199874162	p.Thr839Ile	missense variant	-	NC_000017.11:g.75628736G>A	1000Genomes,ExAC,gnomAD
rs370135455	p.Gln843His	missense variant	-	NC_000017.11:g.75628723C>A	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Pro844Ser	missense variant	-	NC_000017.11:g.75628722G>A	NCI-TCGA
rs1402883629	p.Pro844Leu	missense variant	-	NC_000017.11:g.75628721G>A	gnomAD
rs747815100	p.Pro846Leu	missense variant	-	NC_000017.11:g.75628715G>A	ExAC,gnomAD
rs768609752	p.Ala847Thr	missense variant	-	NC_000017.11:g.75628713C>T	ExAC,TOPMed,gnomAD
rs746881212	p.Lys848Glu	missense variant	-	NC_000017.11:g.75628710T>C	ExAC,TOPMed,gnomAD
COSM473366	p.Asp849Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75628706T>A	NCI-TCGA Cosmic
rs771640717	p.Thr850Arg	missense variant	-	NC_000017.11:g.75628703G>C	ExAC,gnomAD
rs745582738	p.Trp851Arg	missense variant	-	NC_000017.11:g.75628701A>T	ExAC,gnomAD
rs1487001585	p.Arg855Gln	missense variant	-	NC_000017.11:g.75628688C>T	gnomAD
rs757609790	p.Arg855Trp	missense variant	-	NC_000017.11:g.75628689G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro856Ser	missense variant	-	NC_000017.11:g.75628686G>A	NCI-TCGA
rs1375020487	p.Pro856Leu	missense variant	-	NC_000017.11:g.75628685G>A	TOPMed
rs778498749	p.Arg857Ter	stop gained	-	NC_000017.11:g.75628683G>A	TOPMed,gnomAD
rs1259030349	p.Arg857Gln	missense variant	-	NC_000017.11:g.75628682C>T	TOPMed,gnomAD
rs778498749	p.Arg857Gly	missense variant	-	NC_000017.11:g.75628683G>C	TOPMed,gnomAD
rs1238424459	p.Gln860His	missense variant	-	NC_000017.11:g.75628672C>A	TOPMed,gnomAD
rs770646571	p.Glu861Gly	missense variant	-	NC_000017.11:g.75628441T>C	ExAC,gnomAD
rs369545196	p.Asn862Lys	missense variant	-	NC_000017.11:g.75628437G>C	ESP,ExAC,TOPMed,gnomAD
rs778210048	p.Glu864Gly	missense variant	-	NC_000017.11:g.75628432T>C	ExAC,gnomAD
COSM6147919	p.Glu864Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75628433C>G	NCI-TCGA Cosmic
rs375299522	p.Glu864Asp	missense variant	-	NC_000017.11:g.75628431C>G	ESP,ExAC,TOPMed,gnomAD
rs552075479	p.Ser865Arg	missense variant	-	NC_000017.11:g.75628430T>G	1000Genomes,ExAC,gnomAD
rs552075479	p.Ser865Cys	missense variant	-	NC_000017.11:g.75628430T>A	1000Genomes,ExAC,gnomAD
rs1051549858	p.Ser865Asn	missense variant	-	NC_000017.11:g.75628429C>T	TOPMed
rs1317529728	p.Gln866Arg	missense variant	-	NC_000017.11:g.75628426T>C	TOPMed
rs755102989	p.Gln866Ter	stop gained	-	NC_000017.11:g.75628427G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln868Ter	stop gained	-	NC_000017.11:g.75628421G>A	NCI-TCGA
rs1232809240	p.Pro871Ala	missense variant	-	NC_000017.11:g.75628412G>C	TOPMed
rs372355133	p.Arg872His	missense variant	-	NC_000017.11:g.75628408C>T	ESP,ExAC,TOPMed,gnomAD
rs766331424	p.Arg872Cys	missense variant	-	NC_000017.11:g.75628409G>A	ExAC,TOPMed,gnomAD
COSM4841583	p.Ser874Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75628402G>A	NCI-TCGA Cosmic
rs1018345493	p.Ala875Ser	missense variant	-	NC_000017.11:g.75628400C>A	TOPMed,gnomAD
rs1018345493	p.Ala875Pro	missense variant	-	NC_000017.11:g.75628400C>G	TOPMed,gnomAD
rs760533874	p.Lys876Asn	missense variant	-	NC_000017.11:g.75628395C>A	ExAC,gnomAD
rs1451289776	p.Pro877Ser	missense variant	-	NC_000017.11:g.75628394G>A	gnomAD
rs201903596	p.Val879Leu	missense variant	-	NC_000017.11:g.75628388C>G	ESP,ExAC,TOPMed,gnomAD
rs201903596	p.Val879Ile	missense variant	-	NC_000017.11:g.75628388C>T	ESP,ExAC,TOPMed,gnomAD
rs367937094	p.Val880Ile	missense variant	-	NC_000017.11:g.75628385C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770206332	p.Ala881Val	missense variant	-	NC_000017.11:g.75628381G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu882Gln	missense variant	-	NC_000017.11:g.75628379C>G	NCI-TCGA
COSM4831924	p.Glu882Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75628379C>T	NCI-TCGA Cosmic
rs1444121788	p.Lys884Gln	missense variant	-	NC_000017.11:g.75628373T>G	TOPMed
rs1378428742	p.Gly885Asp	missense variant	-	NC_000017.11:g.75628369C>T	TOPMed
rs748493245	p.Gly885Ser	missense variant	-	NC_000017.11:g.75628370C>T	ExAC,TOPMed,gnomAD
rs747425084	p.Val887Ile	missense variant	-	NC_000017.11:g.75628364C>T	ExAC,TOPMed,gnomAD
rs549355707	p.Ser888Leu	missense variant	-	NC_000017.11:g.75628360G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1364345808	p.Ala889Asp	missense variant	-	NC_000017.11:g.75628357G>T	gnomAD
rs372043569	p.Ala889Thr	missense variant	-	NC_000017.11:g.75628358C>T	ESP,TOPMed,gnomAD
rs928380682	p.Ser890Thr	missense variant	-	NC_000017.11:g.75628354C>G	TOPMed,gnomAD
rs981528060	p.Ser890Arg	missense variant	-	NC_000017.11:g.75628353G>C	TOPMed,gnomAD
rs928380682	p.Ser890Ile	missense variant	-	NC_000017.11:g.75628354C>A	TOPMed,gnomAD
rs758403193	p.Glu891Gln	missense variant	-	NC_000017.11:g.75628352C>G	ExAC,TOPMed,gnomAD
rs758403193	p.Glu891Lys	missense variant	-	NC_000017.11:g.75628352C>T	ExAC,TOPMed,gnomAD
rs750715240	p.Gln892Arg	missense variant	-	NC_000017.11:g.75628348T>C	ExAC,TOPMed,gnomAD
rs765352857	p.Gly893Ser	missense variant	-	NC_000017.11:g.75628346C>T	ExAC,gnomAD
rs201290003	p.Pro897Ser	missense variant	-	NC_000017.11:g.75628334G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr898Pro	missense variant	-	NC_000017.11:g.75628331T>G	NCI-TCGA
rs375328138	p.Thr898Met	missense variant	-	NC_000017.11:g.75628330G>A	ESP,ExAC,TOPMed,gnomAD
rs1417016810	p.Thr898Ala	missense variant	-	NC_000017.11:g.75628331T>C	TOPMed
rs759556359	p.Ala899Gly	missense variant	-	NC_000017.11:g.75628327G>C	ExAC,TOPMed,gnomAD
rs1432731002	p.Gln900Ter	stop gained	-	NC_000017.11:g.75628325G>A	TOPMed
rs1301559876	p.Asp901Glu	missense variant	-	NC_000017.11:g.75628320G>T	gnomAD
COSM417986	p.Asp901His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75628322C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe903Val	missense variant	-	NC_000017.11:g.75628316A>C	NCI-TCGA
rs951414274	p.Leu905Pro	missense variant	-	NC_000017.11:g.75628309A>G	TOPMed
rs368295731	p.Ser906Cys	missense variant	-	NC_000017.11:g.75628306G>C	ESP,ExAC,TOPMed,gnomAD
rs372221920	p.Ser906Pro	missense variant	-	NC_000017.11:g.75628307A>G	ESP,ExAC,TOPMed,gnomAD
rs769408630	p.Ala907Ser	missense variant	-	NC_000017.11:g.75628304C>A	ExAC,TOPMed,gnomAD
rs769408630	p.Ala907Thr	missense variant	-	NC_000017.11:g.75628304C>T	ExAC,TOPMed,gnomAD
rs769408630	p.Ala907Pro	missense variant	-	NC_000017.11:g.75628304C>G	ExAC,TOPMed,gnomAD
rs189805934	p.Val910Ile	missense variant	-	NC_000017.11:g.75628295C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780410689	p.Ser911Phe	missense variant	-	NC_000017.11:g.75628291G>A	ExAC,TOPMed,gnomAD
rs747556743	p.Ser911Pro	missense variant	-	NC_000017.11:g.75628292A>G	ExAC,gnomAD
rs772243083	p.Leu912Phe	missense variant	-	NC_000017.11:g.75628287C>G	ExAC,gnomAD
rs745902785	p.Glu914Ala	missense variant	-	NC_000017.11:g.75628282T>G	ExAC,gnomAD
rs1349090285	p.Glu914Lys	missense variant	-	NC_000017.11:g.75628283C>T	gnomAD
rs1224464242	p.Ala915Pro	missense variant	-	NC_000017.11:g.75628280C>G	gnomAD
rs757572489	p.Ala916Glu	missense variant	-	NC_000017.11:g.75628276G>T	ExAC,gnomAD
rs779095507	p.Ala916Thr	missense variant	-	NC_000017.11:g.75628277C>T	ExAC
rs140565320	p.Asn917Thr	missense variant	-	NC_000017.11:g.75628273T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1191928659	p.Val918Ile	missense variant	-	NC_000017.11:g.75628271C>T	TOPMed
rs1404555172	p.Val918Ala	missense variant	-	NC_000017.11:g.75628270A>G	TOPMed,gnomAD
rs376949859	p.Val919Met	missense variant	-	NC_000017.11:g.75628268C>T	1000Genomes,ESP,ExAC,gnomAD
rs996866892	p.Val920Gly	missense variant	-	NC_000017.11:g.75628264A>C	TOPMed,gnomAD
rs754812836	p.Cys922Tyr	missense variant	-	NC_000017.11:g.75628258C>T	ExAC,gnomAD
rs751576684	p.Thr924Asn	missense variant	-	NC_000017.11:g.75628252G>T	ExAC,TOPMed,gnomAD
rs1481404497	p.Phe926Leu	missense variant	-	NC_000017.11:g.75628247A>G	TOPMed,gnomAD
rs1432634734	p.Phe926Leu	missense variant	-	NC_000017.11:g.75628245G>T	TOPMed
rs766206808	p.Tyr927Cys	missense variant	-	NC_000017.11:g.75628243T>C	ExAC,gnomAD
rs749936863	p.Lys928Glu	missense variant	-	NC_000017.11:g.75628241T>C	ExAC,gnomAD
rs764678400	p.Phe932Leu	missense variant	-	NC_000017.11:g.75628227A>C	ExAC,gnomAD
rs1308324471	p.Ala933Thr	missense variant	-	NC_000017.11:g.75628226C>T	gnomAD
rs893983323	p.Ser934Cys	missense variant	-	NC_000017.11:g.75628222G>C	TOPMed
rs200823933	p.Glu936Ter	stop gained	-	NC_000017.11:g.75627692C>A	1000Genomes,ExAC,gnomAD
rs200823933	p.Glu936Lys	missense variant	-	NC_000017.11:g.75627692C>T	1000Genomes,ExAC,gnomAD
rs540718425	p.Glu936Val	missense variant	-	NC_000017.11:g.75627691T>A	1000Genomes
rs199824535	p.Ala942Val	missense variant	-	NC_000017.11:g.75627673G>A	ExAC,TOPMed,gnomAD
rs200535477	p.Arg943His	missense variant	-	NC_000017.11:g.75627670C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200535477	p.Arg943Leu	missense variant	-	NC_000017.11:g.75627670C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753537300	p.Arg943Cys	missense variant	-	NC_000017.11:g.75627671G>A	ExAC,TOPMed,gnomAD
rs1234954718	p.Leu945Phe	missense variant	-	NC_000017.11:g.75627665G>A	gnomAD
rs1292806765	p.His947Arg	missense variant	-	NC_000017.11:g.75627658T>C	gnomAD
rs760335198	p.His947Asn	missense variant	-	NC_000017.11:g.75627659G>T	ExAC,gnomAD
rs942517932	p.Leu949Pro	missense variant	-	NC_000017.11:g.75627652A>G	TOPMed,gnomAD
rs1224260777	p.Thr950Ile	missense variant	-	NC_000017.11:g.75627649G>A	gnomAD
rs1185280594	p.Gln951Ter	stop gained	-	NC_000017.11:g.75627647G>A	TOPMed
COSM3820557	p.Gln951Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75627647G>C	NCI-TCGA Cosmic
rs1031418571	p.Ser954Ala	missense variant	-	NC_000017.11:g.75627638A>C	TOPMed
rs200560792	p.Ser958Arg	missense variant	-	NC_000017.11:g.75627624G>C	ESP,ExAC,TOPMed,gnomAD
rs199567243	p.Val959Met	missense variant	-	NC_000017.11:g.75627623C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys960Glu	missense variant	-	NC_000017.11:g.75627520T>C	NCI-TCGA
rs1169123314	p.Glu962Lys	missense variant	-	NC_000017.11:g.75627514C>T	TOPMed
rs766963673	p.Glu962Asp	missense variant	-	NC_000017.11:g.75627512C>G	ExAC,gnomAD
rs1324272254	p.Ala963Gly	missense variant	-	NC_000017.11:g.75627510G>C	gnomAD
rs1374818448	p.Gln964Glu	missense variant	-	NC_000017.11:g.75627508G>C	TOPMed
rs769855620	p.His969Pro	missense variant	-	NC_000017.11:g.75627492T>G	ExAC,gnomAD
rs769855620	p.His969Arg	missense variant	-	NC_000017.11:g.75627492T>C	ExAC,gnomAD
rs1359227188	p.Phe970Leu	missense variant	-	NC_000017.11:g.75627488G>T	gnomAD
rs776909963	p.Phe970Leu	missense variant	-	NC_000017.11:g.75627490A>G	ExAC,gnomAD
rs771821698	p.His972Arg	missense variant	-	NC_000017.11:g.75627483T>C	ExAC,TOPMed,gnomAD
rs374012200	p.Arg974Gln	missense variant	-	NC_000017.11:g.75627477C>T	ESP,ExAC,TOPMed,gnomAD
rs555807142	p.Arg974Trp	missense variant	-	NC_000017.11:g.75627478G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs555807142	p.Arg974Gly	missense variant	-	NC_000017.11:g.75627478G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1377245802	p.Ala975Ser	missense variant	-	NC_000017.11:g.75627475C>A	gnomAD
rs752348322	p.Arg976Trp	missense variant	-	NC_000017.11:g.75627472G>A	ExAC,TOPMed,gnomAD
COSM3796086	p.Arg976Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75627471C>A	NCI-TCGA Cosmic
rs780872873	p.Arg976Gln	missense variant	-	NC_000017.11:g.75627471C>T	ExAC,TOPMed,gnomAD
rs1461666161	p.Cys977Tyr	missense variant	-	NC_000017.11:g.75627468C>T	gnomAD
rs750876695	p.Glu978Asp	missense variant	-	NC_000017.11:g.75627464C>G	ExAC,TOPMed,gnomAD
rs1347871956	p.Glu978Val	missense variant	-	NC_000017.11:g.75627465T>A	TOPMed
rs766805103	p.Glu978Lys	missense variant	-	NC_000017.11:g.75627466C>T	ExAC,gnomAD
rs201830334	p.Ser979Asn	missense variant	-	NC_000017.11:g.75627462C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761941890	p.Glu980Lys	missense variant	-	NC_000017.11:g.75627460C>T	ExAC,TOPMed,gnomAD
rs1296143848	p.Ala981Pro	missense variant	-	NC_000017.11:g.75627457C>G	gnomAD
rs1214573794	p.Ala981Asp	missense variant	-	NC_000017.11:g.75627456G>T	TOPMed
rs1384121681	p.Asp982Glu	missense variant	-	NC_000017.11:g.75627452G>T	gnomAD
rs989564795	p.Asp982Asn	missense variant	-	NC_000017.11:g.75627454C>T	TOPMed,gnomAD
rs768951440	p.Trp983Arg	missense variant	-	NC_000017.11:g.75627451A>G	ExAC,TOPMed,gnomAD
rs768951440	p.Trp983Gly	missense variant	-	NC_000017.11:g.75627451A>C	ExAC,TOPMed,gnomAD
rs760837636	p.Trp983Ter	stop gained	-	NC_000017.11:g.75627449C>T	ExAC,gnomAD
rs1168917771	p.His984Arg	missense variant	-	NC_000017.11:g.75627447T>C	gnomAD
rs553192607	p.His984Tyr	missense variant	-	NC_000017.11:g.75627448G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1167983890	p.Gly985Val	missense variant	-	NC_000017.11:g.75627444C>A	TOPMed,gnomAD
rs749285610	p.Gly985Ser	missense variant	-	NC_000017.11:g.75627445C>T	ExAC,TOPMed,gnomAD
rs1452587358	p.Gly988Asp	missense variant	-	NC_000017.11:g.75627435C>T	TOPMed,gnomAD
rs1185301227	p.Pro989Arg	missense variant	-	NC_000017.11:g.75627432G>C	gnomAD
rs1441827635	p.Gln990His	missense variant	-	NC_000017.11:g.75627428C>G	gnomAD
rs1250966205	p.Ter992Arg	stop lost	-	NC_000017.11:g.75627424A>G	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002793	Anaplasia	disease	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007107	Malignant neoplasm of larynx	disease	BEFREE
C0029463	Osteosarcoma	disease	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0585442	Osteosarcoma of bone	disease	BEFREE
C0595989	Carcinoma of larynx	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C1292778	Chronic myeloproliferative disorder	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000993	RNA polymerase II complex binding	IDA
GO:0003676	nucleic acid binding	IEA
GO:0003678	DNA helicase activity	NAS
GO:0003678	DNA helicase activity	IDA
GO:0005524	ATP binding	IEA
GO:0009378	four-way junction helicase activity	IBA
GO:0043138	3'-5' DNA helicase activity	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000278	mitotic cell cycle	IMP
GO:0000724	double-strand break repair via homologous recombination	IBA
GO:0006259	DNA metabolic process	NAS
GO:0006260	DNA replication	IMP
GO:0006268	DNA unwinding involved in DNA replication	IBA
GO:0006281	DNA repair	IBA
GO:0006281	DNA repair	IMP
GO:0006310	DNA recombination	IBA
GO:0032508	DNA duplex unwinding	IBA
GO:0034244	negative regulation of transcription elongation from RNA polymerase II promoter	IDA
GO:0051301	cell division	IEA
GO:0051304	chromosome separation	IMP
GO:0072757	cellular response to camptothecin	IEA
GO:1990414	replication-born double-strand break repair via sister chromatid exchange	IEA
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IBA
GO:0005634	nucleus	IDA
GO:0005654	nucleoplasm	IDA
GO:0005654	nucleoplasm	NAS
GO:0005694	chromosome	IBA
GO:0005737	cytoplasm	NAS
GO:0005737	cytoplasm	IBA
GO:0005829	cytosol	IDA
GO:0016591	RNA polymerase II, holoenzyme	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of RECQL5 mRNA	21346803
C496492	abrine	abrine results in increased expression of RECQL5 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of RECQL5 mRNA	17585979
D000082	Acetaminophen	[Clofibrate co-treated with Acetaminophen] affects the expression of RECQL5 mRNA	17585979
D000082	Acetaminophen	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of RECQL5 mRNA]	17585979
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of RECQL5 gene	27153756
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of RECQL5 polyA tail	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of RECQL5 exon	30157460
C026487	benzo(e)pyrene	benzo(e)pyrene results in decreased methylation of RECQL5 intron	30157460
C006780	bisphenol A	bisphenol A affects the expression of RECQL5 mRNA	21786754
C006780	bisphenol A	bisphenol A results in decreased expression of RECQL5 mRNA	30248606
D002994	Clofibrate	[Clofibrate co-treated with Acetaminophen] affects the expression of RECQL5 mRNA	17585979
D002994	Clofibrate	Clofibrate results in increased expression of RECQL5 mRNA	17585979
D002994	Clofibrate	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of RECQL5 mRNA]	17585979
D016572	Cyclosporine	Cyclosporine results in increased expression of RECQL5 mRNA	22147139
D003561	Cytarabine	Cytarabine results in decreased expression of RECQL5 mRNA	19194470
D000077209	Decitabine	Decitabine results in decreased expression of RECQL5 mRNA	19194470
D004317	Doxorubicin	Doxorubicin results in decreased expression of RECQL5 mRNA	29803840
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of RECQL5 mRNA	18936297
C039281	furan	furan results in increased methylation of RECQL5 gene	22079235
C544151	jinfukang	jinfukang results in increased expression of RECQL5 mRNA	27392435
D000077339	Leflunomide	Leflunomide results in decreased expression of RECQL5 mRNA	28988120
D008701	Methapyrilene	Methapyrilene results in decreased methylation of RECQL5 intron	30157460
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of RECQL5 mRNA	28001369
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of RECQL5 mRNA	26011545
C046012	pentanal	pentanal results in decreased expression of RECQL5 mRNA	26079696
C006253	pirinixic acid	pirinixic acid results in decreased expression of RECQL5 mRNA	17426115
D011374	Progesterone	Progesterone results in decreased expression of RECQL5 mRNA	19690047
D012643	Selenium	Selenium results in increased expression of RECQL5 mRNA	19244175
D000077210	Sunitinib	Sunitinib results in increased expression of RECQL5 mRNA	31533062
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of RECQL5 mRNA	21570461
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of RECQL5 mRNA	28065790
D014212	Tretinoin	Tretinoin results in decreased expression of RECQL5 mRNA	16604517
C015559	trimellitic anhydride	trimellitic anhydride results in increased expression of RECQL5 mRNA	19042947
D014635	Valproic Acid	Valproic Acid affects the expression of RECQL5 mRNA	25979313
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of RECQL5 gene	25560391

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0067	ATP-binding
KW-0131	Cell cycle
KW-0132	Cell division
KW-0963	Cytoplasm
KW-0227	DNA damage
KW-0234	DNA repair
KW-0235	DNA replication
KW-0347	Helicase
KW-0378	Hydrolase
KW-0547	Nucleotide-binding
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR011545	DEAD/DEAH_box_helicase_dom
IPR002464	DNA/RNA_helicase_DEAH_CS
IPR004589	DNA_helicase_ATP-dep_RecQ
IPR014001	Helicase_ATP-bd
IPR001650	Helicase_C
IPR027417	P-loop_NTPase
IPR010716	RECQ5
IPR032284	RecQ_Zn-bd

PROSITE

PROSITE ID	PROSITE Term
PS00690	DEAH_ATP_HELICASE
PS51192	HELICASE_ATP_BIND_1
PS51194	HELICASE_CTER

Pfam

Pfam ID	Pfam Term
PF00270	DEAD
PF00271	Helicase_C
PF06959	RecQ5
PF16124	RecQ_Zn_bind

Gene: RECQL5

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

Identified variants/mutations related to cleft phenotype

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