CleftGeneDB-Search

Gene: RFC1

Basic information

Tag	Content
Uniprot ID	P35251; A8K6E7; Q5XKF5; Q6PKU0; Q86V41; Q86V46;
Entrez ID	5981
Genbank protein ID	AAA16121.1; CAA80355.1; AAS94325.1; EAW92923.1; AAB99788.1; AAH51751.1; AAH51786.1; AAH35297.1; BAF84301.1;
Genbank nucleotide ID	NM_001204747.1; NM_002913.4;
Ensembl protein ID	ENSP00000261424; ENSP00000371321;
Ensembl nucleotide ID	ENSG00000035928
Gene name	Replication factor C subunit 1
Gene symbol	RFC1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	24749799; 24942095; 14755461;
Functional description	The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins PCNA and activator 1. This subunit binds to the primer-template junction. Binds the PO-B transcription element as well as other GA rich DNA sequences. Could play a role in DNA transcription regulation as well as DNA replication and/or repair. Can bind single- or double-stranded DNA.
Sequence	MDIRKFFGVI PSGKKLVSET VKKNEKTKSD EETLKAKKGI KEIKVNSSRK EDDFKQKQPS 60 KKKRIIYDSD SESEETLQVK NAKKPPEKLP VSSKPGKISR QDPVTYISET DEEDDFMCKK 120 AASKSKENGR STNSHLGTSN MKKNEENTKT KNKPLSPIKL TPTSVLDYFG TGSVQRSNKK 180 MVASKRKELS QNTDESGLND EAIAKQLQLD EDAELERQLH EDEEFARTLA MLDEEPKTKK 240 ARKDTEAGET FSSVQANLSK AEKHKYPHKV KTAQVSDERK SYSPRKQSKY ESSKESQQHS 300 KSSADKIGEV SSPKASSKLA IMKRKEESSY KEIEPVASKR KENAIKLKGE TKTPKKTKSS 360 PAKKESVSPE DSEKKRTNYQ AYRSYLNREG PKALGSKEIP KGAENCLEGL IFVITGVLES 420 IERDEAKSLI ERYGGKVTGN VSKKTNYLVM GRDSGQSKSD KAAALGTKII DEDGLLNLIR 480 TMPGKKSKYE IAVETEMKKE SKLERTPQKN VQGKRKISPS KKESESKKSR PTSKRDSLAK 540 TIKKETDVFW KSLDFKEQVA EETSGDSKAR NLADDSSENK VENLLWVDKY KPTSLKTIIG 600 QQGDQSCANK LLRWLRNWQK SSSEDKKHAA KFGKFSGKDD GSSFKAALLS GPPGVGKTTT 660 ASLVCQELGY SYVELNASDT RSKSSLKAIV AESLNNTSIK GFYSNGAASS VSTKHALIMD 720 EVDGMAGNED RGGIQELIGL IKHTKIPIIC MCNDRNHPKI RSLVHYCFDL RFQRPRVEQI 780 KGAMMSIAFK EGLKIPPPAM NEIILGANQD IRQVLHNLSM WCARSKALTY DQAKADSHRA 840 KKDIKMGPFD VARKVFAAGE ETAHMSLVDK SDLFFHDYSI APLFVQENYI HVKPVAAGGD 900 MKKHLMLLSR AADSICDGDL VDSQIRSKQN WSLLPAQAIY ASVLPGELMR GYMTQFPTFP 960 SWLGKHSSTG KHDRIVQDLA LHMSLRTYSS KRTVNMDYLS LLRDALVQPL TSQGVDGVQD 1020 VVALMDTYYL MKEDFENIME ISSWGGKPSP FSKLDPKVKA AFTRAYNKEA HLTPYSLQAI 1080 KASRHSTSPS LDSEYNEELN EDDSQSDEKD QDAIETDAMI KKKTKSSKPS KPEKDKEPRK 1140 GKGKSSKK 1148

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
2EBU
2K6G
2K7F
6VVO
2EBU

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	RFC1	479112	E2QW76	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	RFC1	102170128	A0A452FBS8	Capra hircus	Prediction	More>>
1:1 ortholog	RFC1	5981	P35251	Homo sapiens	Publication	More>>
1:1 ortholog	Rfc1	19687	Q5U4B1	Mus musculus	Prediction	More>>
1:1 ortholog	RFC1		A0A2I3TIE6	Pan troglodytes	Prediction	More>>
1:1 ortholog	Rfc1		D3ZFT1	Rattus norvegicus	Prediction	More>>
1:1 ortholog	rfc1	100037336	F1Q5P6	Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
RFC1	c.80A>G	PCR-RFLP	29435434
RFC1	c.80A>G	meta analysis	32042737
RFC1	c.80A>G (incease risk)	meta analysis	30579244
RFC1	80A>G	PCR-RFLP	24749799
RFC1	rs4818789A>C	Linkage analysis	24942095
RFC1	rs3788205A>G	Linkage analysis	24942095

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs768465738	p.Arg4Trp	missense variant	-	NC_000004.12:g.39351470G>A	ExAC,gnomAD
rs190369900	p.Arg4Gln	missense variant	-	NC_000004.12:g.39351469C>T	1000Genomes,ExAC,gnomAD
rs1390785482	p.Gly8Glu	missense variant	-	NC_000004.12:g.39351457C>T	gnomAD
rs1205443032	p.Ile10Val	missense variant	-	NC_000004.12:g.39351452T>C	TOPMed
rs1190401351	p.Ser12Gly	missense variant	-	NC_000004.12:g.39351446T>C	TOPMed,gnomAD
rs757307308	p.Gly13Arg	missense variant	-	NC_000004.12:g.39351443C>T	ExAC,TOPMed,gnomAD
rs1182085253	p.Leu16Val	missense variant	-	NC_000004.12:g.39351434G>C	TOPMed
rs61759896	p.Ser18Asn	missense variant	-	NC_000004.12:g.39351427C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu19Gln	missense variant	-	NC_000004.12:g.39351425C>G	NCI-TCGA
rs753085990	p.Thr20Lys	missense variant	-	NC_000004.12:g.39351421G>T	ExAC,TOPMed,gnomAD
rs753085990	p.Thr20Ile	missense variant	-	NC_000004.12:g.39351421G>A	ExAC,TOPMed,gnomAD
rs753463107	p.Asn24Ser	missense variant	-	NC_000004.12:g.39351409T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu25Asp	missense variant	-	NC_000004.12:g.39351405C>A	NCI-TCGA
rs1277443149	p.Lys26Arg	missense variant	-	NC_000004.12:g.39351403T>C	gnomAD
rs1232681406	p.Thr27Ile	missense variant	-	NC_000004.12:g.39351400G>A	TOPMed,gnomAD
rs1232681406	p.Thr27Arg	missense variant	-	NC_000004.12:g.39351400G>C	TOPMed,gnomAD
rs765960748	p.Lys28Met	missense variant	-	NC_000004.12:g.39351397T>A	ExAC,TOPMed,gnomAD
COSM1055243	p.Thr33Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39351382G>C	NCI-TCGA Cosmic
COSM1055242	p.Lys35Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39351377T>G	NCI-TCGA Cosmic
rs945708128	p.Ala36Glu	missense variant	-	NC_000004.12:g.39351373G>T	TOPMed
rs945708128	p.Ala36Gly	missense variant	-	NC_000004.12:g.39351373G>C	TOPMed
rs1307655865	p.Ala36Thr	missense variant	-	NC_000004.12:g.39351374C>T	TOPMed,gnomAD
COSM5119321	p.Lys37Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39351369C>A	NCI-TCGA Cosmic
rs772638183	p.Lys37Glu	missense variant	-	NC_000004.12:g.39351371T>C	ExAC,TOPMed,gnomAD
rs1372463082	p.Lys38Asn	missense variant	-	NC_000004.12:g.39351366T>G	gnomAD
rs771976617	p.Gly39Ala	missense variant	-	NC_000004.12:g.39351364C>G	ExAC,gnomAD
rs1424206286	p.Glu42Lys	missense variant	-	NC_000004.12:g.39351356C>T	TOPMed,gnomAD
rs761691796	p.Ile43Met	missense variant	-	NC_000004.12:g.39351351G>C	ExAC,gnomAD
rs1225289731	p.Lys44Arg	missense variant	-	NC_000004.12:g.39351349T>C	TOPMed
rs774220730	p.Val45Ile	missense variant	-	NC_000004.12:g.39345476C>T	ExAC,gnomAD
NCI-TCGA novel	p.Asn46Asp	missense variant	-	NC_000004.12:g.39345473T>C	NCI-TCGA
rs951097556	p.Ser47Gly	missense variant	-	NC_000004.12:g.39345470T>C	TOPMed,gnomAD
rs201314036	p.Ser48Phe	missense variant	-	NC_000004.12:g.39345466G>A	1000Genomes,TOPMed
rs762801694	p.Arg49Leu	missense variant	-	NC_000004.12:g.39345463C>A	ExAC,gnomAD
rs1025507219	p.Arg49Cys	missense variant	-	NC_000004.12:g.39345464G>A	TOPMed,gnomAD
rs762801694	p.Arg49His	missense variant	-	NC_000004.12:g.39345463C>T	ExAC,gnomAD
rs1463843267	p.Asp52Asn	missense variant	-	NC_000004.12:g.39345455C>T	gnomAD
rs1267849876	p.Phe54Val	missense variant	-	NC_000004.12:g.39345449A>C	TOPMed,gnomAD
rs1209600239	p.Lys55Asn	missense variant	-	NC_000004.12:g.39345444T>A	TOPMed,gnomAD
rs775184201	p.Gln56Ter	stop gained	-	NC_000004.12:g.39345443G>A	ExAC,gnomAD
rs200203404	p.Lys57Asn	missense variant	-	NC_000004.12:g.39345438C>G	TOPMed
rs747148742	p.Pro59Ser	missense variant	-	NC_000004.12:g.39345434G>A	ExAC,gnomAD
rs1379947730	p.Pro59Leu	missense variant	-	NC_000004.12:g.39345433G>A	gnomAD
rs773598218	p.Ser60Asn	missense variant	-	NC_000004.12:g.39345430C>T	ExAC,gnomAD
rs779548462	p.Lys61Arg	missense variant	-	NC_000004.12:g.39345427T>C	ExAC,TOPMed,gnomAD
rs748251247	p.Lys61Gln	missense variant	-	NC_000004.12:g.39345428T>G	ExAC,TOPMed,gnomAD
rs748251247	p.Lys61Glu	missense variant	-	NC_000004.12:g.39345428T>C	ExAC,TOPMed,gnomAD
rs560959580	p.Arg64Ser	missense variant	-	NC_000004.12:g.39345417C>A	1000Genomes,ExAC,gnomAD
rs1319253803	p.Ile66Met	missense variant	-	NC_000004.12:g.39345411G>C	TOPMed
rs749643454	p.Tyr67Cys	missense variant	-	NC_000004.12:g.39345409T>C	ExAC,gnomAD
rs1404298637	p.Asp68Tyr	missense variant	-	NC_000004.12:g.39345407C>A	gnomAD
rs1404298637	p.Asp68His	missense variant	-	NC_000004.12:g.39345407C>G	gnomAD
rs1328381611	p.Ser69Leu	missense variant	-	NC_000004.12:g.39345403G>A	TOPMed
rs1483758535	p.Asp70Glu	missense variant	-	NC_000004.12:g.39342466A>C	TOPMed
rs1169747277	p.Ser71Leu	missense variant	-	NC_000004.12:g.39342464G>A	gnomAD
rs148989502	p.Ser73Thr	missense variant	-	NC_000004.12:g.39342459A>T	ESP,ExAC,gnomAD
rs148989502	p.Ser73Pro	missense variant	-	NC_000004.12:g.39342459A>G	ESP,ExAC,gnomAD
rs1265647504	p.Thr76Ala	missense variant	-	NC_000004.12:g.39342450T>C	gnomAD
rs1190859841	p.Thr76Met	missense variant	-	NC_000004.12:g.39342449G>A	gnomAD
rs1248660560	p.Gln78Pro	missense variant	-	NC_000004.12:g.39342443T>G	gnomAD
rs1248660560	p.Gln78Arg	missense variant	-	NC_000004.12:g.39342443T>C	gnomAD
rs749719474	p.Val79Ala	missense variant	-	NC_000004.12:g.39342440A>G	ExAC,gnomAD
COSM295355	p.Asn81MetPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39342434T>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn81LysPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.39342433_39342434insT	NCI-TCGA
rs1273897241	p.Lys83Gln	missense variant	-	NC_000004.12:g.39342429T>G	gnomAD
rs1228995587	p.Lys84Asn	missense variant	-	NC_000004.12:g.39342424C>G	gnomAD
rs780617627	p.Pro85Ser	missense variant	-	NC_000004.12:g.39342423G>A	ExAC,gnomAD
rs1403274318	p.Pro85Leu	missense variant	-	NC_000004.12:g.39342422G>A	TOPMed,gnomAD
rs1403274318	p.Pro85Gln	missense variant	-	NC_000004.12:g.39342422G>T	TOPMed,gnomAD
rs1406608268	p.Pro86Leu	missense variant	-	NC_000004.12:g.39342419G>A	TOPMed
rs1298830396	p.Glu87Gly	missense variant	-	NC_000004.12:g.39342416T>C	gnomAD
rs746294007	p.Leu89Arg	missense variant	-	NC_000004.12:g.39342410A>C	ExAC,gnomAD
rs1304573693	p.Ser92Tyr	missense variant	-	NC_000004.12:g.39342401G>T	gnomAD
rs1464312678	p.Ser93Phe	missense variant	-	NC_000004.12:g.39342398G>A	gnomAD
rs375316955	p.Lys94Arg	missense variant	-	NC_000004.12:g.39342395T>C	ESP,ExAC,TOPMed,gnomAD
rs751042466	p.Pro95Arg	missense variant	-	NC_000004.12:g.39342392G>C	ExAC,gnomAD
rs751042466	p.Pro95Leu	missense variant	-	NC_000004.12:g.39342392G>A	ExAC,gnomAD
rs1177398955	p.Pro95Ser	missense variant	-	NC_000004.12:g.39342393G>A	TOPMed
NCI-TCGA novel	p.Gly96Val	missense variant	-	NC_000004.12:g.39342389C>A	NCI-TCGA
rs777096916	p.Lys97Glu	missense variant	-	NC_000004.12:g.39342387T>C	ExAC,gnomAD
COSM6167109	p.Arg100Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39342377C>G	NCI-TCGA Cosmic
rs369009654	p.Arg100Trp	missense variant	-	NC_000004.12:g.39342378G>A	ESP,TOPMed,gnomAD
rs757953728	p.Arg100Gln	missense variant	-	NC_000004.12:g.39342377C>T	ExAC,TOPMed,gnomAD
rs752508090	p.Gln101Glu	missense variant	-	NC_000004.12:g.39342375G>C	ExAC,gnomAD
rs145820966	p.Gln101Arg	missense variant	-	NC_000004.12:g.39342374T>C	ESP,ExAC,TOPMed,gnomAD
rs143871368	p.Asp102Tyr	missense variant	-	NC_000004.12:g.39342372C>A	1000Genomes,ESP,ExAC,gnomAD
rs143871368	p.Asp102His	missense variant	-	NC_000004.12:g.39342372C>G	1000Genomes,ESP,ExAC,gnomAD
rs143871368	p.Asp102Asn	missense variant	-	NC_000004.12:g.39342372C>T	1000Genomes,ESP,ExAC,gnomAD
NCI-TCGA novel	p.Pro103Leu	missense variant	-	NC_000004.12:g.39342368G>A	NCI-TCGA
rs1252583536	p.Thr105Ile	missense variant	-	NC_000004.12:g.39342362G>A	gnomAD
NCI-TCGA novel	p.Thr105HisPheSerTerUnk	frameshift	-	NC_000004.12:g.39342360_39342364ATGTA>-	NCI-TCGA
rs762078054	p.Tyr106Cys	missense variant	-	NC_000004.12:g.39342359T>C	ExAC,gnomAD
rs768553238	p.Thr110Arg	missense variant	-	NC_000004.12:g.39342347G>C	ExAC,gnomAD
rs146652791	p.Asp111Val	missense variant	-	NC_000004.12:g.39327756T>A	ESP,ExAC,TOPMed,gnomAD
rs569007187	p.Asp111Glu	missense variant	-	NC_000004.12:g.39327755A>T	1000Genomes,ExAC,gnomAD
COSM1055240	p.Asp115Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39327745C>T	NCI-TCGA Cosmic
rs777151667	p.Phe116Leu	missense variant	-	NC_000004.12:g.39327740A>T	ExAC,gnomAD
rs747412068	p.Met117Thr	missense variant	-	NC_000004.12:g.39327738A>G	ExAC,gnomAD
rs771216082	p.Met117Val	missense variant	-	NC_000004.12:g.39327739T>C	ExAC,TOPMed,gnomAD
rs372006154	p.Ala121Val	missense variant	-	NC_000004.12:g.39327726G>A	ESP,ExAC,TOPMed,gnomAD
rs778438832	p.Lys124Glu	missense variant	-	NC_000004.12:g.39327718T>C	ExAC,gnomAD
rs749171683	p.Glu127Asp	missense variant	-	NC_000004.12:g.39327707C>G	ExAC,gnomAD
rs780156280	p.Asn128Ser	missense variant	-	NC_000004.12:g.39327705T>C	ExAC,gnomAD
rs1209981346	p.Arg130Gly	missense variant	-	NC_000004.12:g.39327700T>C	gnomAD
rs755963050	p.Arg130Ile	missense variant	-	NC_000004.12:g.39327699C>A	ExAC,gnomAD
rs750301952	p.Ser131Cys	missense variant	-	NC_000004.12:g.39327696G>C	ExAC,gnomAD
rs1028691663	p.Ser131Ala	missense variant	-	NC_000004.12:g.39327697A>C	TOPMed
rs764195715	p.Thr132Ile	missense variant	-	NC_000004.12:g.39327693G>A	ExAC,TOPMed,gnomAD
rs895251004	p.Asn133Asp	missense variant	-	NC_000004.12:g.39327691T>C	TOPMed
rs370664179	p.Asn133Lys	missense variant	-	NC_000004.12:g.39327689A>T	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Asn133His	missense variant	-	NC_000004.12:g.39327691T>G	NCI-TCGA
rs752880075	p.His135Arg	missense variant	-	NC_000004.12:g.39327684T>C	ExAC,gnomAD
rs765256510	p.Gly137Glu	missense variant	-	NC_000004.12:g.39327678C>T	ExAC,TOPMed,gnomAD
rs765256510	p.Gly137Ala	missense variant	-	NC_000004.12:g.39327678C>G	ExAC,TOPMed,gnomAD
rs1324933063	p.Met141Val	missense variant	-	NC_000004.12:g.39327667T>C	TOPMed
rs766928118	p.Lys143Glu	missense variant	-	NC_000004.12:g.39327661T>C	ExAC,TOPMed,gnomAD
COSM1429624	p.Lys143Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39327659C>A	NCI-TCGA Cosmic
rs760942281	p.Glu146Gln	missense variant	-	NC_000004.12:g.39327652C>G	ExAC,gnomAD
COSM284551	p.Asn147His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39327649T>G	NCI-TCGA Cosmic
rs771601041	p.Thr148Ser	missense variant	-	NC_000004.12:g.39327645G>C	ExAC,TOPMed,gnomAD
COSM3825820	p.Lys151Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39327635C>A	NCI-TCGA Cosmic
rs376735975	p.Asn152Ser	missense variant	-	NC_000004.12:g.39327633T>C	gnomAD
rs1376751995	p.Lys153Arg	missense variant	-	NC_000004.12:g.39327630T>C	gnomAD
rs1437548709	p.Pro154Ala	missense variant	-	NC_000004.12:g.39327628G>C	gnomAD
rs1442148992	p.Leu155Phe	missense variant	-	NC_000004.12:g.39327623T>A	TOPMed
rs141727621	p.Pro157Ala	missense variant	-	NC_000004.12:g.39327619G>C	ESP,ExAC,TOPMed,gnomAD
rs1205077506	p.Ile158Val	missense variant	-	NC_000004.12:g.39327616T>C	gnomAD
rs1275704364	p.Leu160Phe	missense variant	-	NC_000004.12:g.39327610G>A	gnomAD
rs748868314	p.Leu160Arg	missense variant	-	NC_000004.12:g.39327609A>C	ExAC,gnomAD
rs1344726050	p.Pro162Ala	missense variant	-	NC_000004.12:g.39327604G>C	TOPMed,gnomAD
rs1344726050	p.Pro162Ser	missense variant	-	NC_000004.12:g.39327604G>A	TOPMed,gnomAD
rs745632771	p.Val165Leu	missense variant	-	NC_000004.12:g.39327595C>G	ExAC,gnomAD
rs780987463	p.Leu166Phe	missense variant	-	NC_000004.12:g.39327592G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu166Pro	missense variant	-	NC_000004.12:g.39327591A>G	NCI-TCGA
rs757029913	p.Thr171Asn	missense variant	-	NC_000004.12:g.39327576G>T	ExAC,TOPMed,gnomAD
rs1330768994	p.Gly172Arg	missense variant	-	NC_000004.12:g.39327574C>T	gnomAD
rs1405087418	p.Ser173Gly	missense variant	-	NC_000004.12:g.39327571T>C	TOPMed
rs886459529	p.Gln175Arg	missense variant	-	NC_000004.12:g.39327564T>C	TOPMed
rs765456455	p.Arg176Lys	missense variant	-	NC_000004.12:g.39327561C>T	ExAC,gnomAD
rs752894711	p.Arg176Gly	missense variant	-	NC_000004.12:g.39327562T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg176Ile	missense variant	-	NC_000004.12:g.39327561C>A	NCI-TCGA
rs1333670896	p.Ser177Cys	missense variant	-	NC_000004.12:g.39327558G>C	TOPMed
rs1176744586	p.Lys179Asn	missense variant	-	NC_000004.12:g.39327551C>A	TOPMed,gnomAD
rs1178792632	p.Val182Met	missense variant	-	NC_000004.12:g.39327544C>T	gnomAD
rs1346833260	p.Ser184Arg	missense variant	-	NC_000004.12:g.39327538T>G	TOPMed
rs1481174828	p.Ser184Asn	missense variant	-	NC_000004.12:g.39327537C>T	gnomAD
NCI-TCGA novel	p.Arg186Ile	missense variant	-	NC_000004.12:g.39327531C>A	NCI-TCGA
NCI-TCGA novel	p.Ser190ThrPheSerTerUnk	frameshift	-	NC_000004.12:g.39326637_39326638AA>-	NCI-TCGA
rs779100462	p.Gln191Arg	missense variant	-	NC_000004.12:g.39326633T>C	ExAC,TOPMed,gnomAD
rs1409483894	p.Asn192Asp	missense variant	-	NC_000004.12:g.39326631T>C	gnomAD
rs768073660	p.Ser196Pro	missense variant	-	NC_000004.12:g.39326619A>G	gnomAD
NCI-TCGA novel	p.Asn199His	missense variant	-	NC_000004.12:g.39326610T>G	NCI-TCGA
rs1445540699	p.Asp200Asn	missense variant	-	NC_000004.12:g.39326607C>T	TOPMed
COSM3917743	p.Glu201Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39326603T>A	NCI-TCGA Cosmic
rs753892527	p.Glu201Lys	missense variant	-	NC_000004.12:g.39326604C>T	ExAC,gnomAD
rs780132979	p.Ala202Asp	missense variant	-	NC_000004.12:g.39326600G>T	ExAC,TOPMed,gnomAD
rs780132979	p.Ala202Gly	missense variant	-	NC_000004.12:g.39326600G>C	ExAC,TOPMed,gnomAD
rs780132979	p.Ala202Val	missense variant	-	NC_000004.12:g.39326600G>A	ExAC,TOPMed,gnomAD
COSM1055236	p.Ala204Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39326594G>A	NCI-TCGA Cosmic
rs376166947	p.Ala204Thr	missense variant	-	NC_000004.12:g.39326595C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu207Ser	missense variant	-	NC_000004.12:g.39326585A>G	NCI-TCGA
rs55704262	p.Gln208His	missense variant	-	NC_000004.12:g.39326581C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1318842710	p.Gln208Leu	missense variant	-	NC_000004.12:g.39326582T>A	gnomAD
COSM72411	p.Leu209Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39326580G>C	NCI-TCGA Cosmic
rs532718208	p.Ala213Val	missense variant	-	NC_000004.12:g.39326567G>A	ExAC,TOPMed,gnomAD
rs369129047	p.Arg217Lys	missense variant	-	NC_000004.12:g.39323410C>T	ESP,ExAC,TOPMed,gnomAD
rs1214931015	p.His220Leu	missense variant	-	NC_000004.12:g.39323401T>A	TOPMed,gnomAD
rs1214931015	p.His220Arg	missense variant	-	NC_000004.12:g.39323401T>C	TOPMed,gnomAD
rs781704210	p.Asp222Glu	missense variant	-	NC_000004.12:g.39323394A>C	ExAC,gnomAD
rs750536992	p.Asp222Gly	missense variant	-	NC_000004.12:g.39323395T>C	ExAC,TOPMed,gnomAD
rs750536992	p.Asp222Val	missense variant	-	NC_000004.12:g.39323395T>A	ExAC,TOPMed,gnomAD
rs757891211	p.Glu224Gly	missense variant	-	NC_000004.12:g.39323389T>C	ExAC,gnomAD
NCI-TCGA novel	p.Phe225LeuPheSerTerUnk	frameshift	-	NC_000004.12:g.39323385A>-	NCI-TCGA
rs758834846	p.Thr228Ile	missense variant	-	NC_000004.12:g.39323377G>A	ExAC,TOPMed,gnomAD
rs764517878	p.Thr228Ser	missense variant	-	NC_000004.12:g.39323378T>A	ExAC,gnomAD
rs1215006062	p.Leu229Ser	missense variant	-	NC_000004.12:g.39323374A>G	gnomAD
rs1171628276	p.Leu229Val	missense variant	-	NC_000004.12:g.39323375A>C	gnomAD
rs1430656897	p.Met231Val	missense variant	-	NC_000004.12:g.39323369T>C	gnomAD
rs1423371394	p.Asp233Glu	missense variant	-	NC_000004.12:g.39323361A>T	gnomAD
rs752335779	p.Glu234Asp	missense variant	-	NC_000004.12:g.39323358T>G	ExAC,TOPMed,gnomAD
COSM4614015	p.Lys240ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39323341T>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys240Gln	missense variant	-	NC_000004.12:g.39323342T>G	NCI-TCGA
COSM1429622	p.Ala241GlyPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39323340_39323341insT	NCI-TCGA Cosmic
rs753551050	p.Ala241Val	missense variant	-	NC_000004.12:g.39321373G>A	ExAC,gnomAD
rs760191657	p.Arg242Ter	stop gained	-	NC_000004.12:g.39321371G>A	ExAC,gnomAD
rs773119176	p.Arg242Leu	missense variant	-	NC_000004.12:g.39321370C>A	ExAC,TOPMed,gnomAD
rs773119176	p.Arg242Gln	missense variant	-	NC_000004.12:g.39321370C>T	ExAC,TOPMed,gnomAD
rs760191657	p.Arg242Gly	missense variant	-	NC_000004.12:g.39321371G>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp244Tyr	missense variant	-	NC_000004.12:g.39321365C>A	NCI-TCGA
COSM5221805	p.Glu246SerPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39321358_39321359TC>-	NCI-TCGA Cosmic
rs201358782	p.Ala247Glu	missense variant	-	NC_000004.12:g.39321355G>T	ESP,ExAC,TOPMed,gnomAD
rs201358782	p.Ala247Val	missense variant	-	NC_000004.12:g.39321355G>A	ESP,ExAC,TOPMed,gnomAD
rs28903095	p.Gly248Arg	missense variant	-	NC_000004.12:g.39321353C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1035194287	p.Glu249Lys	missense variant	-	NC_000004.12:g.39321350C>T	TOPMed
COSM1055235	p.Glu249Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39321350C>A	NCI-TCGA Cosmic
rs746033187	p.Thr250Met	missense variant	-	NC_000004.12:g.39321346G>A	ExAC,TOPMed,gnomAD
rs1174790021	p.Ser253Pro	missense variant	-	NC_000004.12:g.39321338A>G	TOPMed
rs1157194176	p.Val254Ala	missense variant	-	NC_000004.12:g.39321334A>G	gnomAD
rs778423177	p.Val254Leu	missense variant	-	NC_000004.12:g.39321335C>G	ExAC,gnomAD
rs1456803206	p.Gln255Arg	missense variant	-	NC_000004.12:g.39321331T>C	gnomAD
rs759016023	p.Ala256Gly	missense variant	-	NC_000004.12:g.39321328G>C	ExAC,gnomAD
rs748525530	p.Asn257Thr	missense variant	-	NC_000004.12:g.39321325T>G	ExAC,TOPMed,gnomAD
rs779098990	p.Leu258Phe	missense variant	-	NC_000004.12:g.39321321T>G	ExAC,gnomAD
rs755402925	p.Ser259Cys	missense variant	-	NC_000004.12:g.39321320T>A	ExAC,gnomAD
rs1190866199	p.Ser259Ile	missense variant	-	NC_000004.12:g.39321319C>A	TOPMed,gnomAD
rs755402925	p.Ser259Gly	missense variant	-	NC_000004.12:g.39321320T>C	ExAC,gnomAD
rs1182825971	p.Glu262Asp	missense variant	-	NC_000004.12:g.39321309T>G	gnomAD
rs753366121	p.Pro267Thr	missense variant	-	NC_000004.12:g.39321296G>T	ExAC,TOPMed,gnomAD
rs753366121	p.Pro267Ser	missense variant	-	NC_000004.12:g.39321296G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro267Leu	missense variant	-	NC_000004.12:g.39321295G>A	NCI-TCGA
rs147243992	p.His268Tyr	missense variant	-	NC_000004.12:g.39321293G>A	ESP
rs200063891	p.His268Gln	missense variant	-	NC_000004.12:g.39321291A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His268Asp	missense variant	-	NC_000004.12:g.39321293G>C	NCI-TCGA
rs756791779	p.Thr272Ile	missense variant	-	NC_000004.12:g.39320663G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln274Ter	stop gained	-	NC_000004.12:g.39320658G>A	NCI-TCGA
NCI-TCGA novel	p.Gln274His	missense variant	-	NC_000004.12:g.39320656T>G	NCI-TCGA
rs1364986119	p.Val275Ile	missense variant	-	NC_000004.12:g.39320655C>T	gnomAD
rs201311873	p.Asp277His	missense variant	-	NC_000004.12:g.39320649C>G	1000Genomes
rs762655321	p.Glu278Lys	missense variant	-	NC_000004.12:g.39320646C>T	ExAC,TOPMed,gnomAD
rs752583076	p.Glu278Gly	missense variant	-	NC_000004.12:g.39320645T>C	ExAC,TOPMed,gnomAD
rs149569383	p.Arg279Lys	missense variant	-	NC_000004.12:g.39320642C>T	ESP,ExAC,TOPMed,gnomAD
rs760932819	p.Lys280Asn	missense variant	-	NC_000004.12:g.39320638C>G	ExAC,gnomAD
rs1194812270	p.Pro284Ser	missense variant	-	NC_000004.12:g.39320628G>A	gnomAD
NCI-TCGA novel	p.Arg285Met	missense variant	-	NC_000004.12:g.39320624C>A	NCI-TCGA
rs572693377	p.Lys286Arg	missense variant	-	NC_000004.12:g.39320621T>C	1000Genomes,ExAC,gnomAD
rs940851959	p.Lys289Arg	missense variant	-	NC_000004.12:g.39320612T>C	TOPMed
rs761966474	p.Glu291Gly	missense variant	-	NC_000004.12:g.39320606T>C	ExAC,TOPMed,gnomAD
rs1491001504	p.Ser293Pro	missense variant	-	NC_000004.12:g.39320601A>G	gnomAD
rs372173606	p.Lys294Glu	missense variant	-	NC_000004.12:g.39320598T>C	ESP,ExAC,TOPMed,gnomAD
rs533588479	p.Ser296Pro	missense variant	-	NC_000004.12:g.39320592A>G	TOPMed
rs1340472680	p.Lys301Arg	missense variant	-	NC_000004.12:g.39320576T>C	gnomAD
rs749592628	p.Ala304Thr	missense variant	-	NC_000004.12:g.39320568C>T	ExAC,gnomAD
rs1231286448	p.Ala304Val	missense variant	-	NC_000004.12:g.39320567G>A	gnomAD
rs1457407252	p.Asp305Glu	missense variant	-	NC_000004.12:g.39320563G>C	TOPMed
rs1210493037	p.Ile307Thr	missense variant	-	NC_000004.12:g.39320558A>G	TOPMed
rs1470051371	p.Val310Asp	missense variant	-	NC_000004.12:g.39320549A>T	gnomAD
rs1406840014	p.Ser311Tyr	missense variant	-	NC_000004.12:g.39320546G>T	gnomAD
rs1326741422	p.Pro313Ser	missense variant	-	NC_000004.12:g.39320541G>A	gnomAD
rs1409175533	p.Pro313Leu	missense variant	-	NC_000004.12:g.39320540G>A	TOPMed,gnomAD
rs780346100	p.Lys314Arg	missense variant	-	NC_000004.12:g.39320537T>C	ExAC,gnomAD
rs559190915	p.Ser317Thr	missense variant	-	NC_000004.12:g.39320529A>T	1000Genomes,ExAC,gnomAD
rs1431306296	p.Lys318Glu	missense variant	-	NC_000004.12:g.39320526T>C	TOPMed
rs1428155697	p.Ala320Val	missense variant	-	NC_000004.12:g.39320519G>A	gnomAD
rs1197925875	p.Ala320Pro	missense variant	-	NC_000004.12:g.39320520C>G	TOPMed
rs780832386	p.Met322Leu	missense variant	-	NC_000004.12:g.39320514T>A	ExAC,gnomAD
rs756712820	p.Met322Thr	missense variant	-	NC_000004.12:g.39320513A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys323Thr	missense variant	-	NC_000004.12:g.39320510T>G	NCI-TCGA
rs1181661083	p.Arg324Lys	missense variant	-	NC_000004.12:g.39320507C>T	gnomAD
rs746600122	p.Lys325Asn	missense variant	-	NC_000004.12:g.39320503T>A	ExAC,TOPMed,gnomAD
COSM733515	p.Glu326Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39320502C>G	NCI-TCGA Cosmic
rs777544130	p.Glu326Gly	missense variant	-	NC_000004.12:g.39320501T>C	ExAC,gnomAD
rs908017417	p.Glu327Gly	missense variant	-	NC_000004.12:g.39320498T>C	TOPMed
rs1168146563	p.Ser328Arg	missense variant	-	NC_000004.12:g.39320496T>G	TOPMed
rs1057394361	p.Ser328Thr	missense variant	-	NC_000004.12:g.39320495C>G	TOPMed,gnomAD
rs1167967876	p.Ser329Pro	missense variant	-	NC_000004.12:g.39320493A>G	gnomAD
rs201558285	p.Ser329Phe	missense variant	-	NC_000004.12:g.39320492G>A	1000Genomes
NCI-TCGA novel	p.Tyr330Ser	missense variant	-	NC_000004.12:g.39320489T>G	NCI-TCGA
rs752705656	p.Ile333Thr	missense variant	-	NC_000004.12:g.39320480A>G	ExAC,gnomAD
rs1294705033	p.Pro335Leu	missense variant	-	NC_000004.12:g.39320474G>A	TOPMed
rs938879469	p.Ala337Pro	missense variant	-	NC_000004.12:g.39320469C>G	TOPMed,gnomAD
COSM3428490	p.Ala337Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39320469C>T	NCI-TCGA Cosmic
rs1441302773	p.Ser338Leu	missense variant	-	NC_000004.12:g.39320465G>A	gnomAD
NCI-TCGA novel	p.Ser338Pro	missense variant	-	NC_000004.12:g.39320466A>G	NCI-TCGA
rs569282965	p.Lys339Glu	missense variant	-	NC_000004.12:g.39320463T>C	1000Genomes
rs1336137802	p.Arg340Lys	missense variant	-	NC_000004.12:g.39320459C>T	gnomAD
NCI-TCGA novel	p.Glu342Ter	stop gained	-	NC_000004.12:g.39320454C>A	NCI-TCGA
rs1450181816	p.Ala344Thr	missense variant	-	NC_000004.12:g.39320448C>T	gnomAD
rs137867721	p.Lys346Ile	missense variant	-	NC_000004.12:g.39320441T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs137867721	p.Lys346Arg	missense variant	-	NC_000004.12:g.39320441T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs980499125	p.Lys348Arg	missense variant	-	NC_000004.12:g.39320435T>C	TOPMed
rs1341561499	p.Glu350Gly	missense variant	-	NC_000004.12:g.39320429T>C	TOPMed
rs774537579	p.Thr351Ala	missense variant	-	NC_000004.12:g.39320427T>C	ExAC,gnomAD
rs567126430	p.Thr351Ile	missense variant	-	NC_000004.12:g.39320426G>A	1000Genomes,ExAC,gnomAD
COSM4942343	p.Pro354Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39320418G>C	NCI-TCGA Cosmic
rs1182173157	p.Pro354Ser	missense variant	-	NC_000004.12:g.39320418G>A	gnomAD
NCI-TCGA novel	p.Lys355Asn	missense variant	-	NC_000004.12:g.39320413C>A	NCI-TCGA
rs55734630	p.Thr357Ser	missense variant	-	NC_000004.12:g.39320408G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775978452	p.Thr357Ala	missense variant	-	NC_000004.12:g.39320409T>C	ExAC,gnomAD
rs746285755	p.Lys358Arg	missense variant	-	NC_000004.12:g.39320405T>C	ExAC,TOPMed,gnomAD
rs776147227	p.Ser359Asn	missense variant	-	NC_000004.12:g.39320402C>T	ExAC,TOPMed,gnomAD
rs140509314	p.Pro361Ser	missense variant	-	NC_000004.12:g.39320397G>A	ESP,ExAC,TOPMed,gnomAD
rs1281185688	p.Lys363Arg	missense variant	-	NC_000004.12:g.39320390T>C	gnomAD
rs746480822	p.Glu365Lys	missense variant	-	NC_000004.12:g.39320385C>T	ExAC,gnomAD
rs749259193	p.Ser366Cys	missense variant	-	NC_000004.12:g.39317021G>C	ExAC,gnomAD
rs749259193	p.Ser366Phe	missense variant	-	NC_000004.12:g.39317021G>A	ExAC,gnomAD
rs201630129	p.Val367Leu	missense variant	-	NC_000004.12:g.39317019C>A	1000Genomes
rs1301837081	p.Ser368Asn	missense variant	-	NC_000004.12:g.39317015C>T	TOPMed,gnomAD
rs1424516993	p.Pro369Leu	missense variant	-	NC_000004.12:g.39317012G>A	TOPMed,gnomAD
rs1354550306	p.Pro369Thr	missense variant	-	NC_000004.12:g.39317013G>T	gnomAD
rs779858013	p.Ser372Phe	missense variant	-	NC_000004.12:g.39317003G>A	ExAC,gnomAD
COSM3775829	p.Lys374Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39316996C>G	NCI-TCGA Cosmic
rs374549255	p.Arg376His	missense variant	-	NC_000004.12:g.39316991C>T	ESP,ExAC,TOPMed,gnomAD
rs138918161	p.Arg376Cys	missense variant	-	NC_000004.12:g.39316992G>A	ESP,ExAC,TOPMed,gnomAD
rs752817616	p.Thr377Pro	missense variant	-	NC_000004.12:g.39316989T>G	ExAC,TOPMed,gnomAD
rs752817616	p.Thr377Ala	missense variant	-	NC_000004.12:g.39316989T>C	ExAC,TOPMed,gnomAD
rs759294546	p.Asn378Asp	missense variant	-	NC_000004.12:g.39316986T>C	ExAC,TOPMed,gnomAD
rs759989483	p.Tyr379Phe	missense variant	-	NC_000004.12:g.39316982T>A	ExAC,gnomAD
rs754336277	p.Tyr382Phe	missense variant	-	NC_000004.12:g.39316973T>A	ExAC,TOPMed,gnomAD
rs896111059	p.Arg383Gln	missense variant	-	NC_000004.12:g.39316970C>T	gnomAD
NCI-TCGA novel	p.Ser384Asn	missense variant	-	NC_000004.12:g.39316967C>T	NCI-TCGA
rs1035947105	p.Arg388Ter	stop gained	-	NC_000004.12:g.39316956G>A	TOPMed,gnomAD
rs760962792	p.Arg388Gln	missense variant	-	NC_000004.12:g.39316955C>T	ExAC,gnomAD
rs552225009	p.Glu389Asp	missense variant	-	NC_000004.12:g.39316951T>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly390Ser	missense variant	-	NC_000004.12:g.39316950C>T	NCI-TCGA
NCI-TCGA novel	p.Pro391Ser	missense variant	-	NC_000004.12:g.39316947G>A	NCI-TCGA
rs200654181	p.Lys392Glu	missense variant	-	NC_000004.12:g.39316944T>C	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Ala393Thr	missense variant	-	NC_000004.12:g.39316941C>T	NCI-TCGA
rs761384771	p.Leu394Pro	missense variant	-	NC_000004.12:g.39316937A>G	ExAC,gnomAD
rs773949787	p.Ser396Phe	missense variant	-	NC_000004.12:g.39316931G>A	ExAC,gnomAD
COSM1055233	p.Glu398Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39316926C>A	NCI-TCGA Cosmic
rs768311053	p.Ile399Met	missense variant	-	NC_000004.12:g.39316921T>C	ExAC,gnomAD
rs1003176717	p.Lys401Arg	missense variant	-	NC_000004.12:g.39316916T>C	gnomAD
rs762425047	p.Gly409Asp	missense variant	-	NC_000004.12:g.39312909C>T	ExAC,TOPMed,gnomAD
rs769655528	p.Leu410Val	missense variant	-	NC_000004.12:g.39312907G>C	ExAC,gnomAD
COSM447836	p.Ile411Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39312902T>C	NCI-TCGA Cosmic
rs374739604	p.Ile411Val	missense variant	-	NC_000004.12:g.39312904T>C	ESP,ExAC,TOPMed,gnomAD
rs374739604	p.Ile411Leu	missense variant	-	NC_000004.12:g.39312904T>A	ESP,ExAC,TOPMed,gnomAD
rs1417303223	p.Phe412Cys	missense variant	-	NC_000004.12:g.39312900A>C	gnomAD
rs370587908	p.Gly416Asp	missense variant	-	NC_000004.12:g.39312888C>T	ESP,ExAC
rs755074181	p.Val417Met	missense variant	-	NC_000004.12:g.39312886C>T	ExAC,TOPMed,gnomAD
rs756529258	p.Glu419Ala	missense variant	-	NC_000004.12:g.39312879T>G	ExAC,gnomAD
rs201881505	p.Ile421Val	missense variant	-	NC_000004.12:g.39312874T>C	ESP,ExAC,TOPMed,gnomAD
rs757709074	p.Arg423Ter	stop gained	-	NC_000004.12:g.39312868G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg423Gln	missense variant	-	NC_000004.12:g.39312867C>T	NCI-TCGA
rs1398201957	p.Asp424Asn	missense variant	-	NC_000004.12:g.39312865C>T	TOPMed
COSM1055232	p.Glu425Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39312861T>C	NCI-TCGA Cosmic
rs145113928	p.Ala426Val	missense variant	-	NC_000004.12:g.39312858G>A	ESP,ExAC,TOPMed,gnomAD
rs1306637456	p.Ala426Thr	missense variant	-	NC_000004.12:g.39312859C>T	gnomAD
rs145113928	p.Ala426Gly	missense variant	-	NC_000004.12:g.39312858G>C	ESP,ExAC,TOPMed,gnomAD
rs1287485715	p.Lys427Arg	missense variant	-	NC_000004.12:g.39312855T>C	TOPMed
rs1453577637	p.Leu429Val	missense variant	-	NC_000004.12:g.39312850G>C	gnomAD
NCI-TCGA novel	p.Ile430Phe	missense variant	-	NC_000004.12:g.39312847T>A	NCI-TCGA
rs368877527	p.Arg432His	missense variant	-	NC_000004.12:g.39312840C>T	ESP,ExAC,TOPMed,gnomAD
rs368877527	p.Arg432Leu	missense variant	-	NC_000004.12:g.39312840C>A	ESP,ExAC,TOPMed,gnomAD
rs774908169	p.Arg432Cys	missense variant	-	NC_000004.12:g.39312841G>A	ExAC,TOPMed,gnomAD
rs776556661	p.Tyr433His	missense variant	-	NC_000004.12:g.39312838A>G	ExAC,gnomAD
rs1441351794	p.Gly434Arg	missense variant	-	NC_000004.12:g.39312835C>T	gnomAD
COSM1055230	p.Val437Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39312826C>A	NCI-TCGA Cosmic
rs774551557	p.Val437Leu	missense variant	-	NC_000004.12:g.39312826C>G	ExAC,gnomAD
rs1412158758	p.Thr438Ile	missense variant	-	NC_000004.12:g.39312822G>A	TOPMed
rs1461537999	p.Asn440His	missense variant	-	NC_000004.12:g.39312817T>G	gnomAD
rs768802365	p.Ser442Asn	missense variant	-	NC_000004.12:g.39312810C>T	ExAC,TOPMed,gnomAD
rs1202897147	p.Lys443Thr	missense variant	-	NC_000004.12:g.39312807T>G	gnomAD
rs749546912	p.Lys443Asn	missense variant	-	NC_000004.12:g.39312806C>G	ExAC,gnomAD
rs141418649	p.Met450Val	missense variant	-	NC_000004.12:g.39312787T>C	ESP,ExAC,TOPMed,gnomAD
rs369740243	p.Arg452His	missense variant	-	NC_000004.12:g.39312780C>T	ESP,ExAC,TOPMed,gnomAD
COSM6100008	p.Arg452Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39312780C>A	NCI-TCGA Cosmic
rs1314858321	p.Asp453Val	missense variant	-	NC_000004.12:g.39312777T>A	gnomAD
rs1297682689	p.Asp453Glu	missense variant	-	NC_000004.12:g.39312776A>T	TOPMed
rs757688983	p.Ser454Asn	missense variant	-	NC_000004.12:g.39312774C>T	ExAC,gnomAD
rs1342525398	p.Gln456Arg	missense variant	-	NC_000004.12:g.39312768T>C	gnomAD
rs1356104867	p.Ser457Thr	missense variant	-	NC_000004.12:g.39312766A>T	TOPMed
rs1381747027	p.Ser459Asn	missense variant	-	NC_000004.12:g.39312759C>T	gnomAD
rs1374223058	p.Ala462Asp	missense variant	-	NC_000004.12:g.39311548G>T	TOPMed
rs146649219	p.Ala463Thr	missense variant	-	NC_000004.12:g.39311546C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1461222088	p.Gly466Glu	missense variant	-	NC_000004.12:g.39311536C>T	gnomAD
rs371180655	p.Ile469Ser	missense variant	-	NC_000004.12:g.39311527A>C	ESP,ExAC,gnomAD
rs771612144	p.Asp471Ala	missense variant	-	NC_000004.12:g.39311521T>G	ExAC,gnomAD
rs1346505319	p.Asp471Glu	missense variant	-	NC_000004.12:g.39311520A>T	TOPMed
NCI-TCGA novel	p.Gly474LeuPheSerTerUnk	stop gained	-	NC_000004.12:g.39311513_39311514insGCAGCCTTGGGGACAAAAATTATTGATGAAG	NCI-TCGA
rs747537833	p.Ile479Thr	missense variant	-	NC_000004.12:g.39311497A>G	ExAC,gnomAD
rs758796849	p.Arg480Gln	missense variant	-	NC_000004.12:g.39311494C>T	ExAC,TOPMed,gnomAD
rs367742770	p.Arg480Trp	missense variant	-	NC_000004.12:g.39311495G>A	ESP,ExAC,TOPMed,gnomAD
rs778686345	p.Met482Leu	missense variant	-	NC_000004.12:g.39311489T>G	ExAC,gnomAD
rs541798977	p.Gly484Asp	missense variant	-	NC_000004.12:g.39311482C>T	gnomAD
rs754480413	p.Lys485Gln	missense variant	-	NC_000004.12:g.39311480T>G	ExAC,TOPMed,gnomAD
rs1199696482	p.Lys485Arg	missense variant	-	NC_000004.12:g.39311479T>C	TOPMed
COSM4924932	p.Lys486Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39311476T>C	NCI-TCGA Cosmic
rs753388385	p.Ser487Ala	missense variant	-	NC_000004.12:g.39311474A>C	ExAC,gnomAD
rs1437034275	p.Thr495Ala	missense variant	-	NC_000004.12:g.39311450T>C	TOPMed,gnomAD
rs750377380	p.Glu496Gly	missense variant	-	NC_000004.12:g.39311446T>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys498Asn	missense variant	-	NC_000004.12:g.39309027C>A	NCI-TCGA
rs1447332666	p.Lys502Arg	missense variant	-	NC_000004.12:g.39309016T>C	TOPMed
rs750314523	p.Leu503Gln	missense variant	-	NC_000004.12:g.39309013A>T	ExAC,gnomAD
COSM1429618	p.Arg505Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39309007C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg505Lys	missense variant	-	NC_000004.12:g.39309007C>T	NCI-TCGA
rs756968126	p.Thr506Ile	missense variant	-	NC_000004.12:g.39309004G>A	ExAC,gnomAD
rs767556822	p.Thr506Ser	missense variant	-	NC_000004.12:g.39309005T>A	ExAC,gnomAD
rs1212392375	p.Pro507Ser	missense variant	-	NC_000004.12:g.39309002G>A	TOPMed,gnomAD
rs369507694	p.Gln508Pro	missense variant	-	NC_000004.12:g.39308998T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs764000823	p.Lys509Arg	missense variant	-	NC_000004.12:g.39308995T>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys509Thr	missense variant	-	NC_000004.12:g.39308995T>G	NCI-TCGA
rs777001359	p.Asn510Lys	missense variant	-	NC_000004.12:g.39308991A>T	ExAC
rs1448444299	p.Asn510His	missense variant	-	NC_000004.12:g.39308993T>G	TOPMed
COSM2846613	p.Asn510MetPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39308992T>-	NCI-TCGA Cosmic
rs759788745	p.Asn510Ser	missense variant	-	NC_000004.12:g.39308992T>C	ExAC,gnomAD
rs1183676074	p.Val511Ile	missense variant	-	NC_000004.12:g.39308990C>T	TOPMed
rs766510970	p.Lys514Gln	missense variant	-	NC_000004.12:g.39308981T>G	ExAC,gnomAD
COSM1055229	p.Arg515Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39308977C>A	NCI-TCGA Cosmic
rs760899943	p.Lys516Arg	missense variant	-	NC_000004.12:g.39308974T>C	ExAC,gnomAD
rs773588677	p.Ser518Thr	missense variant	-	NC_000004.12:g.39308968C>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro519Leu	missense variant	-	NC_000004.12:g.39308965G>A	NCI-TCGA
rs748440897	p.Lys521Gln	missense variant	-	NC_000004.12:g.39308960T>G	ExAC,gnomAD
rs748440897	p.Lys521Glu	missense variant	-	NC_000004.12:g.39308960T>C	ExAC,gnomAD
rs1037054416	p.Lys522Glu	missense variant	-	NC_000004.12:g.39308957T>C	TOPMed,gnomAD
rs774729803	p.Ser524Pro	missense variant	-	NC_000004.12:g.39308951A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser526Tyr	missense variant	-	NC_000004.12:g.39308944G>T	NCI-TCGA
rs1420896413	p.Lys527Glu	missense variant	-	NC_000004.12:g.39308942T>C	gnomAD
rs769012008	p.Lys527Ile	missense variant	-	NC_000004.12:g.39308941T>A	ExAC,TOPMed,gnomAD
rs755615781	p.Pro531Leu	missense variant	-	NC_000004.12:g.39308929G>A	ExAC,TOPMed,gnomAD
rs918114541	p.Thr532Ile	missense variant	-	NC_000004.12:g.39308926G>A	TOPMed
rs780964610	p.Lys534Arg	missense variant	-	NC_000004.12:g.39308920T>C	ExAC
rs745419387	p.Lys534Glu	missense variant	-	NC_000004.12:g.39308921T>C	ExAC,gnomAD
rs757166322	p.Arg535Lys	missense variant	-	NC_000004.12:g.39308917C>T	ExAC,TOPMed,gnomAD
rs1241536139	p.Asp536Gly	missense variant	-	NC_000004.12:g.39308914T>C	TOPMed,gnomAD
rs1298018014	p.Asp536Glu	missense variant	-	NC_000004.12:g.39308913G>C	gnomAD
rs1474469059	p.Asp536Tyr	missense variant	-	NC_000004.12:g.39308915C>A	gnomAD
rs1241536139	p.Asp536Val	missense variant	-	NC_000004.12:g.39308914T>A	TOPMed,gnomAD
rs1194466482	p.Leu538Trp	missense variant	-	NC_000004.12:g.39308908A>C	gnomAD
NCI-TCGA novel	p.Leu538PhePheSerTerUnkUnk	frameshift	-	NC_000004.12:g.39308907_39308908insA	NCI-TCGA
rs751480509	p.Ala539Ser	missense variant	-	NC_000004.12:g.39308906C>A	ExAC,TOPMed,gnomAD
rs371255500	p.Ala539Val	missense variant	-	NC_000004.12:g.39308905G>A	ESP,ExAC,TOPMed,gnomAD
rs959688159	p.Lys540Thr	missense variant	-	NC_000004.12:g.39308902T>G	TOPMed
NCI-TCGA novel	p.Lys540Asn	missense variant	-	NC_000004.12:g.39308901C>A	NCI-TCGA
rs1229613405	p.Ile542Met	missense variant	-	NC_000004.12:g.39308895T>C	gnomAD
NCI-TCGA novel	p.Lys543TrpPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.39308894_39308895insCAGTTGATGGACATTTGGATTGTTTCCA	NCI-TCGA
NCI-TCGA novel	p.Lys543Thr	missense variant	-	NC_000004.12:g.39308893T>G	NCI-TCGA
COSM277047	p.Lys544Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39308889C>A	NCI-TCGA Cosmic
rs1206688096	p.Lys544Arg	missense variant	-	NC_000004.12:g.39308890T>C	TOPMed
rs773390851	p.Thr546Ile	missense variant	-	NC_000004.12:g.39308884G>A	ExAC,gnomAD
rs183190812	p.Thr546Ala	missense variant	-	NC_000004.12:g.39308885T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1432677571	p.Asp547Gly	missense variant	-	NC_000004.12:g.39308881T>C	gnomAD
rs979799484	p.Asp547Glu	missense variant	-	NC_000004.12:g.39308880A>T	TOPMed,gnomAD
rs1301779593	p.Phe549Leu	missense variant	-	NC_000004.12:g.39308876A>G	TOPMed,gnomAD
rs1404753197	p.Ser552Ile	missense variant	-	NC_000004.12:g.39308866C>A	gnomAD
NCI-TCGA novel	p.Lys556Arg	missense variant	-	NC_000004.12:g.39308854T>C	NCI-TCGA
rs767518528	p.Gln558His	missense variant	-	NC_000004.12:g.39308847C>A	ExAC,gnomAD
rs774851700	p.Ser564Asn	missense variant	-	NC_000004.12:g.39308830C>T	ExAC,gnomAD
rs768993651	p.Gly565Cys	missense variant	-	NC_000004.12:g.39308828C>A	ExAC,gnomAD
rs749720141	p.Gly565Val	missense variant	-	NC_000004.12:g.39308827C>A	ExAC,gnomAD
rs1478833233	p.Asp566Asn	missense variant	-	NC_000004.12:g.39308825C>T	gnomAD
rs149897970	p.Lys568Arg	missense variant	-	NC_000004.12:g.39308818T>C	ESP,ExAC,gnomAD
rs747426890	p.Ala569Thr	missense variant	-	NC_000004.12:g.39308816C>T	ExAC
rs375278905	p.Arg570Ser	missense variant	-	NC_000004.12:g.39308811C>G	ESP,ExAC,TOPMed,gnomAD
rs1201656145	p.Asp575Asn	missense variant	-	NC_000004.12:g.39308798C>T	gnomAD
rs1223487211	p.Glu578Gly	missense variant	-	NC_000004.12:g.39308788T>C	gnomAD
NCI-TCGA novel	p.Glu578Gln	missense variant	-	NC_000004.12:g.39308789C>G	NCI-TCGA
NCI-TCGA novel	p.Lys580SerPheSerTerUnk	frameshift	-	NC_000004.12:g.39308781_39308782TT>-	NCI-TCGA
NCI-TCGA novel	p.Glu582Lys	missense variant	-	NC_000004.12:g.39308777C>T	NCI-TCGA
rs370147025	p.Leu584Trp	missense variant	-	NC_000004.12:g.39308770A>C	ESP,ExAC,gnomAD
rs942718865	p.Leu584Phe	missense variant	-	NC_000004.12:g.39308769C>G	TOPMed
rs139096199	p.Thr593Ala	missense variant	-	NC_000004.12:g.39308744T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs748333308	p.Ser594Leu	missense variant	-	NC_000004.12:g.39308740G>A	gnomAD
rs1368902896	p.Leu595Phe	missense variant	-	NC_000004.12:g.39308738G>A	gnomAD
NCI-TCGA novel	p.Lys596Asn	missense variant	-	NC_000004.12:g.39308733C>A	NCI-TCGA
rs2066791	p.Ile598Val	missense variant	-	NC_000004.12:g.39308729T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2066791	p.Ile598Val	missense variant	-	NC_000004.12:g.39308729T>C	UniProt,dbSNP
VAR_014860	p.Ile598Val	missense variant	-	NC_000004.12:g.39308729T>C	UniProt
rs377460974	p.Ile598Met	missense variant	-	NC_000004.12:g.39308727T>C	ESP,ExAC,TOPMed,gnomAD
rs562481131	p.Ile599Val	missense variant	-	NC_000004.12:g.39308726T>C	gnomAD
rs1332240399	p.Ile599Thr	missense variant	-	NC_000004.12:g.39308725A>G	gnomAD
rs780401677	p.Gln601Arg	missense variant	-	NC_000004.12:g.39308719T>C	ExAC,gnomAD
rs1427211421	p.Gly603Arg	missense variant	-	NC_000004.12:g.39308714C>G	gnomAD
rs989070824	p.Asp604Asn	missense variant	-	NC_000004.12:g.39308711C>T	gnomAD
rs1432587686	p.Asp604Glu	missense variant	-	NC_000004.12:g.39308709G>C	TOPMed,gnomAD
rs1394387956	p.Ala608Gly	missense variant	-	NC_000004.12:g.39308698G>C	TOPMed
COSM1055227	p.Ala608Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39308699C>T	NCI-TCGA Cosmic
rs1192754517	p.Asn609Thr	missense variant	-	NC_000004.12:g.39308695T>G	gnomAD
rs1057747	p.Arg613His	missense variant	-	NC_000004.12:g.39308683C>T	TOPMed,gnomAD
rs767574991	p.Arg613Cys	missense variant	-	NC_000004.12:g.39308684G>A	ExAC,gnomAD
rs1057747	p.Arg613Leu	missense variant	-	NC_000004.12:g.39308683C>A	TOPMed,gnomAD
COSM4926622	p.Trp614Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39308679C>A	NCI-TCGA Cosmic
rs761854574	p.Arg616Gln	missense variant	-	NC_000004.12:g.39308674C>T	ExAC,TOPMed,gnomAD
rs140584118	p.Asn617Ser	missense variant	-	NC_000004.12:g.39308671T>C	ESP,ExAC,TOPMed,gnomAD
rs140584118	p.Asn617Ile	missense variant	-	NC_000004.12:g.39308671T>A	ESP,ExAC,TOPMed,gnomAD
rs1313341834	p.Asn617Tyr	missense variant	-	NC_000004.12:g.39308672T>A	gnomAD
rs1222450872	p.Gln619Arg	missense variant	-	NC_000004.12:g.39308665T>C	gnomAD
rs1222450872	p.Gln619Pro	missense variant	-	NC_000004.12:g.39308665T>G	gnomAD
COSM1055226	p.Lys620Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39308661C>A	NCI-TCGA Cosmic
rs763277787	p.Ser621Arg	missense variant	-	NC_000004.12:g.39308660T>G	ExAC,gnomAD
rs775780200	p.Ser621Asn	missense variant	-	NC_000004.12:g.39308659C>T	ExAC,TOPMed,gnomAD
rs763277787	p.Ser621Gly	missense variant	-	NC_000004.12:g.39308660T>C	ExAC,gnomAD
rs770083988	p.Ser622Phe	missense variant	-	NC_000004.12:g.39308656G>A	ExAC,gnomAD
rs1404170132	p.Ser623Phe	missense variant	-	NC_000004.12:g.39308653G>A	gnomAD
COSM1429617	p.Glu624Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39308650T>C	NCI-TCGA Cosmic
rs748232846	p.Glu624Lys	missense variant	-	NC_000004.12:g.39308651C>T	ExAC,TOPMed,gnomAD
rs148725208	p.Asp625Val	missense variant	-	NC_000004.12:g.39308647T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs148725208	p.Asp625Gly	missense variant	-	NC_000004.12:g.39308647T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1339139106	p.Lys626Asn	missense variant	-	NC_000004.12:g.39308643T>A	TOPMed,gnomAD
rs1295438015	p.Lys627Asn	missense variant	-	NC_000004.12:g.39308640T>G	TOPMed,gnomAD
rs746587538	p.His628Arg	missense variant	-	NC_000004.12:g.39308638T>C	ExAC,gnomAD
rs760243930	p.Ala630Gly	missense variant	-	NC_000004.12:g.39306701G>C	ExAC,TOPMed,gnomAD
rs748034378	p.Lys631Arg	missense variant	-	NC_000004.12:g.39306698T>C	ExAC,gnomAD
rs778771799	p.Gly633Arg	missense variant	-	NC_000004.12:g.39306693C>G	ExAC,gnomAD
rs768491668	p.Gly633Asp	missense variant	-	NC_000004.12:g.39306692C>T	ExAC,gnomAD
COSM4124581	p.Phe635Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39306687A>T	NCI-TCGA Cosmic
rs55727832	p.Ser636Phe	missense variant	-	NC_000004.12:g.39306683G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs147227437	p.Gly637Ser	missense variant	-	NC_000004.12:g.39306681C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1298681724	p.Gly637Val	missense variant	-	NC_000004.12:g.39306680C>A	gnomAD
COSM1055225	p.Asp639Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39306675C>A	NCI-TCGA Cosmic
rs61748745	p.Asp640Gly	missense variant	-	NC_000004.12:g.39306671T>C	ESP,ExAC,TOPMed,gnomAD
rs61748745	p.Asp640Val	missense variant	-	NC_000004.12:g.39306671T>A	ESP,ExAC,TOPMed,gnomAD
rs374867437	p.Gly641Val	missense variant	-	NC_000004.12:g.39306668C>A	ESP,ExAC,TOPMed,gnomAD
rs1135544	p.Gly641Ser	missense variant	-	NC_000004.12:g.39306669C>T	TOPMed,gnomAD
COSM481248	p.Gly641Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39306669C>A	NCI-TCGA Cosmic
rs374867437	p.Gly641Asp	missense variant	-	NC_000004.12:g.39306668C>T	ESP,ExAC,TOPMed,gnomAD
rs755342067	p.Ser642Phe	missense variant	-	NC_000004.12:g.39306665G>A	ExAC,gnomAD
rs754209348	p.Ala646Gly	missense variant	-	NC_000004.12:g.39306653G>C	ExAC,gnomAD
rs766790092	p.Ala647Val	missense variant	-	NC_000004.12:g.39306650G>A	ExAC,TOPMed,gnomAD
rs1205041770	p.Ala647Thr	missense variant	-	NC_000004.12:g.39306651C>T	gnomAD
rs1210803086	p.Pro652Leu	missense variant	-	NC_000004.12:g.39306635G>A	gnomAD
rs767080058	p.Pro652Ser	missense variant	-	NC_000004.12:g.39306636G>A	ExAC,gnomAD
rs761473475	p.Pro653Thr	missense variant	-	NC_000004.12:g.39306633G>T	ExAC,TOPMed,gnomAD
rs774313023	p.Pro653Leu	missense variant	-	NC_000004.12:g.39306632G>A	ExAC,gnomAD
rs768524441	p.Val655Ile	missense variant	-	NC_000004.12:g.39306627C>T	ExAC,gnomAD
rs1318653305	p.Gly656Asp	missense variant	-	NC_000004.12:g.39306623C>T	gnomAD
rs1418708823	p.Lys657Thr	missense variant	-	NC_000004.12:g.39306620T>G	TOPMed
rs749270095	p.Thr658Asn	missense variant	-	NC_000004.12:g.39306617G>T	ExAC,gnomAD
COSM3603577	p.Ser662Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39306605G>A	NCI-TCGA Cosmic
rs775104115	p.Ser662Pro	missense variant	-	NC_000004.12:g.39306606A>G	ExAC,gnomAD
rs775104115	p.Ser662Thr	missense variant	-	NC_000004.12:g.39306606A>T	ExAC,gnomAD
rs1322730316	p.Val664Met	missense variant	-	NC_000004.12:g.39306600C>T	gnomAD
rs747174315	p.Cys665Phe	missense variant	-	NC_000004.12:g.39306596C>A	ExAC,TOPMed,gnomAD
rs747174315	p.Cys665Tyr	missense variant	-	NC_000004.12:g.39306596C>T	ExAC,TOPMed,gnomAD
rs368938991	p.Cys665Arg	missense variant	-	NC_000004.12:g.39306597A>G	ESP,ExAC,gnomAD
COSM3409284	p.Glu667Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39304926C>A	NCI-TCGA Cosmic
rs756514185	p.Glu667Lys	missense variant	-	NC_000004.12:g.39304928C>T	ExAC,gnomAD
rs1258552616	p.Tyr670His	missense variant	-	NC_000004.12:g.39304919A>G	TOPMed
rs28903096	p.Val673Leu	missense variant	-	NC_000004.12:g.39304910C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs28903096	p.Val673Met	missense variant	-	NC_000004.12:g.39304910C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs28903096	p.Val673Leu	missense variant	-	NC_000004.12:g.39304910C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145107601	p.Glu674Ala	missense variant	-	NC_000004.12:g.39304906T>G	ESP,TOPMed
rs941829262	p.Asn676Ser	missense variant	-	NC_000004.12:g.39304900T>C	TOPMed,gnomAD
rs762579159	p.Arg681Gln	missense variant	-	NC_000004.12:g.39304885C>T	ExAC,gnomAD
rs759308496	p.Ser682Thr	missense variant	-	NC_000004.12:g.39304882C>G	ExAC,gnomAD
rs776364634	p.Ser682Arg	missense variant	-	NC_000004.12:g.39304881A>C	ExAC,gnomAD
rs138470471	p.Lys683Met	missense variant	-	NC_000004.12:g.39304879T>A	ESP,ExAC,TOPMed,gnomAD
rs761874961	p.Ser685Gly	missense variant	-	NC_000004.12:g.39304874T>C	ExAC,gnomAD
rs370446342	p.Ala688Val	missense variant	-	NC_000004.12:g.39304864G>A	ESP,ExAC,TOPMed,gnomAD
rs1472514752	p.Ile689Phe	missense variant	-	NC_000004.12:g.39304862T>A	TOPMed,gnomAD
rs368198058	p.Ala691Gly	missense variant	-	NC_000004.12:g.39304855G>C	ESP,ExAC,TOPMed,gnomAD
rs11932767	p.Glu692Asp	missense variant	-	NC_000004.12:g.39304851C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu692Val	missense variant	-	NC_000004.12:g.39304852T>A	NCI-TCGA
rs1215653913	p.Ser693Leu	missense variant	-	NC_000004.12:g.39304849G>A	gnomAD
rs1239961331	p.Ile699Phe	missense variant	-	NC_000004.12:g.39304832T>A	TOPMed
rs757653219	p.Ser704Ala	missense variant	-	NC_000004.12:g.39304817A>C	ExAC,gnomAD
rs777334711	p.Asn705Lys	missense variant	-	NC_000004.12:g.39303150A>T	ExAC,gnomAD
rs376187267	p.Ala707Thr	missense variant	-	NC_000004.12:g.39303146C>T	ESP,ExAC,TOPMed,gnomAD
rs747438761	p.Val711Leu	missense variant	-	NC_000004.12:g.39303134C>G	ExAC,TOPMed,gnomAD
rs142517282	p.Thr713Met	missense variant	-	NC_000004.12:g.39303127G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142517282	p.Thr713Arg	missense variant	-	NC_000004.12:g.39303127G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs564171683	p.Thr713Ala	missense variant	-	NC_000004.12:g.39303128T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1292187854	p.Lys714Arg	missense variant	-	NC_000004.12:g.39303124T>C	gnomAD
rs1350708315	p.Ala716Val	missense variant	-	NC_000004.12:g.39303118G>A	gnomAD
rs2306598	p.Leu717Phe	missense variant	-	NC_000004.12:g.39303116G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs2306598	p.Leu717Val	missense variant	-	NC_000004.12:g.39303116G>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp723TrpPheSerTerUnk	frameshift	-	NC_000004.12:g.39303097_39303098TC>-	NCI-TCGA
COSM447832	p.Gly724Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39303094C>A	NCI-TCGA Cosmic
COSM1429616	p.Gly724Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39303094C>T	NCI-TCGA Cosmic
rs766409944	p.Asn728Ile	missense variant	-	NC_000004.12:g.39303082T>A	ExAC,TOPMed,gnomAD
rs750181204	p.Gly732Arg	missense variant	-	NC_000004.12:g.39303071C>G	ExAC,gnomAD
rs1246960748	p.Ile734Thr	missense variant	-	NC_000004.12:g.39303064A>G	TOPMed,gnomAD
COSM3603576	p.Gln735Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39303062G>A	NCI-TCGA Cosmic
rs773587132	p.Ile738Phe	missense variant	-	NC_000004.12:g.39302868T>A	ExAC,gnomAD
rs1380486322	p.Gly739Ser	missense variant	-	NC_000004.12:g.39302865C>T	TOPMed
rs1294463605	p.Leu740Arg	missense variant	-	NC_000004.12:g.39302861A>C	TOPMed,gnomAD
rs577715030	p.His743Arg	missense variant	-	NC_000004.12:g.39302852T>C	1000Genomes,ExAC,gnomAD
rs1425676226	p.His743Tyr	missense variant	-	NC_000004.12:g.39302853G>A	gnomAD
rs1437474171	p.Thr744Ala	missense variant	-	NC_000004.12:g.39302850T>C	gnomAD
NCI-TCGA novel	p.Thr744Ser	missense variant	-	NC_000004.12:g.39302850T>A	NCI-TCGA
rs1280310569	p.Lys745Arg	missense variant	-	NC_000004.12:g.39302846T>C	gnomAD
rs1237165224	p.Ile749Val	missense variant	-	NC_000004.12:g.39302835T>C	gnomAD
rs1178739379	p.Cys750Tyr	missense variant	-	NC_000004.12:g.39302831C>T	gnomAD
NCI-TCGA novel	p.Cys750Ser	missense variant	-	NC_000004.12:g.39302831C>G	NCI-TCGA
rs558110225	p.Met751Val	missense variant	-	NC_000004.12:g.39302829T>C	1000Genomes,ExAC,gnomAD
rs778599319	p.Asn753Ser	missense variant	-	NC_000004.12:g.39302822T>C	ExAC,gnomAD
rs1359115561	p.Asn753Asp	missense variant	-	NC_000004.12:g.39302823T>C	TOPMed
NCI-TCGA novel	p.Arg755Ile	missense variant	-	NC_000004.12:g.39302816C>A	NCI-TCGA
NCI-TCGA novel	p.His757Tyr	missense variant	-	NC_000004.12:g.39302811G>A	NCI-TCGA
rs1282996098	p.Pro758Leu	missense variant	-	NC_000004.12:g.39302807G>A	gnomAD
rs748839045	p.Ile760Phe	missense variant	-	NC_000004.12:g.39302802T>A	ExAC
rs774151006	p.Arg761Leu	missense variant	-	NC_000004.12:g.39302798C>A	ExAC,gnomAD
rs774151006	p.Arg761His	missense variant	-	NC_000004.12:g.39302798C>T	ExAC,gnomAD
rs1241292836	p.Arg761Cys	missense variant	-	NC_000004.12:g.39302799G>A	TOPMed,gnomAD
rs750328833	p.Ser762Phe	missense variant	-	NC_000004.12:g.39302795G>A	ExAC,TOPMed,gnomAD
rs1215156008	p.Val764Ile	missense variant	-	NC_000004.12:g.39302790C>T	TOPMed
rs767280898	p.His765Arg	missense variant	-	NC_000004.12:g.39302786T>C	ExAC,gnomAD
rs1282724899	p.Tyr766Cys	missense variant	-	NC_000004.12:g.39302783T>C	gnomAD
rs757175937	p.Tyr766His	missense variant	-	NC_000004.12:g.39302784A>G	ExAC,gnomAD
rs752963051	p.Cys767Ser	missense variant	-	NC_000004.12:g.39302780C>G	ExAC,gnomAD
rs765595532	p.Arg771Cys	missense variant	-	NC_000004.12:g.39302769G>A	ExAC,TOPMed,gnomAD
rs147804632	p.Arg771His	missense variant	-	NC_000004.12:g.39302768C>T	ESP,ExAC,TOPMed,gnomAD
rs201195147	p.Gln773Pro	missense variant	-	NC_000004.12:g.39302762T>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gln773Glu	missense variant	-	NC_000004.12:g.39302763G>C	NCI-TCGA
rs940269437	p.Pro775Leu	missense variant	-	NC_000004.12:g.39302756G>A	TOPMed,gnomAD
rs199688793	p.Arg776Gln	missense variant	-	NC_000004.12:g.39302753C>T	ExAC,TOPMed,gnomAD
rs773606833	p.Arg776Trp	missense variant	-	NC_000004.12:g.39302754G>A	ExAC,gnomAD
rs199688793	p.Arg776Leu	missense variant	-	NC_000004.12:g.39302753C>A	ExAC,TOPMed,gnomAD
rs1304775320	p.Gln779His	missense variant	-	NC_000004.12:g.39302743C>A	gnomAD
NCI-TCGA novel	p.Gly782Ser	missense variant	-	NC_000004.12:g.39302595C>T	NCI-TCGA
rs768055158	p.Met784Val	missense variant	-	NC_000004.12:g.39302589T>C	ExAC,TOPMed,gnomAD
rs369274424	p.Met785Ile	missense variant	-	NC_000004.12:g.39302584C>T	ESP,ExAC,TOPMed,gnomAD
rs774655717	p.Ile787Val	missense variant	-	NC_000004.12:g.39302580T>C	ExAC,TOPMed,gnomAD
rs1275594880	p.Ile787Thr	missense variant	-	NC_000004.12:g.39302579A>G	TOPMed
rs769010068	p.Ala788Glu	missense variant	-	NC_000004.12:g.39302576G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala788Val	missense variant	-	NC_000004.12:g.39302576G>A	NCI-TCGA
rs1221752406	p.Phe789Tyr	missense variant	-	NC_000004.12:g.39302573A>T	TOPMed
rs1245651984	p.Lys790Ile	missense variant	-	NC_000004.12:g.39302570T>A	gnomAD
COSM1055221	p.Lys794Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39302557C>A	NCI-TCGA Cosmic
rs762605626	p.Ile795Phe	missense variant	-	NC_000004.12:g.39302556T>A	ExAC,TOPMed,gnomAD
rs144320551	p.Pro796Leu	missense variant	-	NC_000004.12:g.39302552G>A	TOPMed,gnomAD
rs775059245	p.Pro796Ser	missense variant	-	NC_000004.12:g.39302553G>A	ExAC,gnomAD
rs144320551	p.Pro796His	missense variant	-	NC_000004.12:g.39302552G>T	TOPMed,gnomAD
COSM3603575	p.Pro797Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39302550G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro797LeuPheSerTerUnk	frameshift	-	NC_000004.12:g.39302549G>-	NCI-TCGA
rs769341933	p.Ala799Thr	missense variant	-	NC_000004.12:g.39302544C>T	ExAC,gnomAD
rs1383685207	p.Leu805Phe	missense variant	-	NC_000004.12:g.39302524C>A	gnomAD
NCI-TCGA novel	p.Leu805Met	missense variant	-	NC_000004.12:g.39302526A>T	NCI-TCGA
rs1197434795	p.Ala807Thr	missense variant	-	NC_000004.12:g.39302520C>T	TOPMed
rs144389543	p.Gln809Pro	missense variant	-	NC_000004.12:g.39302513T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144389543	p.Gln809Leu	missense variant	-	NC_000004.12:g.39302513T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln809Ter	stop gained	-	NC_000004.12:g.39302514G>A	NCI-TCGA
rs1461514755	p.Ile811Val	missense variant	-	NC_000004.12:g.39302508T>C	gnomAD
rs370085283	p.Val814Ile	missense variant	-	NC_000004.12:g.39302376C>T	ESP,ExAC,TOPMed,gnomAD
rs541683474	p.His816Gln	missense variant	-	NC_000004.12:g.39302368A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs140467780	p.Asn817Ser	missense variant	-	NC_000004.12:g.39302366T>C	ESP,ExAC,TOPMed
rs1229526080	p.Trp821Ser	missense variant	-	NC_000004.12:g.39302354C>G	TOPMed
rs201073589	p.Cys822Tyr	missense variant	-	NC_000004.12:g.39302351C>T	1000Genomes,TOPMed
rs1178128210	p.Arg824Gln	missense variant	-	NC_000004.12:g.39302345C>T	gnomAD
rs1273637156	p.Ala827Val	missense variant	-	NC_000004.12:g.39302336G>A	gnomAD
rs781188723	p.Thr829Ala	missense variant	-	NC_000004.12:g.39302331T>C	ExAC,gnomAD
rs535971979	p.Tyr830Cys	missense variant	-	NC_000004.12:g.39302327T>C	ExAC,TOPMed,gnomAD
rs1234716742	p.Asp831Gly	missense variant	-	NC_000004.12:g.39302324T>C	gnomAD
rs1372749611	p.Gln832Leu	missense variant	-	NC_000004.12:g.39302321T>A	gnomAD
rs946365296	p.Ala833Thr	missense variant	-	NC_000004.12:g.39302319C>T	TOPMed,gnomAD
rs946365296	p.Ala833Ser	missense variant	-	NC_000004.12:g.39302319C>A	TOPMed,gnomAD
rs752053155	p.Lys834Arg	missense variant	-	NC_000004.12:g.39302315T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys834Thr	missense variant	-	NC_000004.12:g.39302315T>G	NCI-TCGA
rs764625447	p.Ala835Gly	missense variant	-	NC_000004.12:g.39302312G>C	ExAC,TOPMed,gnomAD
rs914951575	p.Ser837Cys	missense variant	-	NC_000004.12:g.39302306G>C	gnomAD
rs752953383	p.His838Tyr	missense variant	-	NC_000004.12:g.39302304G>A	ExAC,gnomAD
rs1436920232	p.His838Arg	missense variant	-	NC_000004.12:g.39302303T>C	gnomAD
rs759045902	p.Arg839Ile	missense variant	-	NC_000004.12:g.39302300C>A	ExAC,TOPMed,gnomAD
rs1470562542	p.Ala840Thr	missense variant	-	NC_000004.12:g.39302298C>T	gnomAD
rs914428458	p.Lys841Arg	missense variant	-	NC_000004.12:g.39302294T>C	TOPMed,gnomAD
rs1234737188	p.Lys841Glu	missense variant	-	NC_000004.12:g.39302295T>C	gnomAD
NCI-TCGA novel	p.Lys842Gln	missense variant	-	NC_000004.12:g.39302292T>G	NCI-TCGA
rs765974271	p.Asp843Gly	missense variant	-	NC_000004.12:g.39302288T>C	ExAC,gnomAD
rs760329608	p.Ile844Phe	missense variant	-	NC_000004.12:g.39302286T>A	ExAC,TOPMed,gnomAD
rs760329608	p.Ile844Val	missense variant	-	NC_000004.12:g.39302286T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys845Asn	missense variant	-	NC_000004.12:g.39302281T>G	NCI-TCGA
rs1367790921	p.Met846Thr	missense variant	-	NC_000004.12:g.39302279A>G	TOPMed
rs771956490	p.Met846Val	missense variant	-	NC_000004.12:g.39302280T>C	ExAC,gnomAD
rs199897885	p.Pro848Leu	missense variant	-	NC_000004.12:g.39300410G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs774401356	p.Ala852Ser	missense variant	-	NC_000004.12:g.39300399C>A	ExAC,gnomAD
rs377090257	p.Ala852Val	missense variant	-	NC_000004.12:g.39300398G>A	ESP,TOPMed,gnomAD
rs762772857	p.Arg853Gln	missense variant	-	NC_000004.12:g.39300395C>T	ExAC,TOPMed,gnomAD
rs768328174	p.Arg853Trp	missense variant	-	NC_000004.12:g.39300396G>A	ExAC,TOPMed,gnomAD
rs768328174	p.Arg853Gly	missense variant	-	NC_000004.12:g.39300396G>C	ExAC,TOPMed,gnomAD
rs1438073765	p.Lys854Glu	missense variant	-	NC_000004.12:g.39300393T>C	TOPMed
rs771093293	p.Ala857Thr	missense variant	-	NC_000004.12:g.39300384C>T	ExAC,gnomAD
rs1475596448	p.Ala858Ser	missense variant	-	NC_000004.12:g.39300381C>A	gnomAD
rs1218853685	p.His864Tyr	missense variant	-	NC_000004.12:g.39300363G>A	gnomAD
rs374383197	p.Met865Val	missense variant	-	NC_000004.12:g.39300360T>C	ESP,ExAC,gnomAD
rs1017070617	p.Ser866Pro	missense variant	-	NC_000004.12:g.39300357A>G	TOPMed,gnomAD
rs1214987412	p.Leu867Pro	missense variant	-	NC_000004.12:g.39300353A>G	gnomAD
rs150822138	p.Val868Leu	missense variant	-	NC_000004.12:g.39300351C>G	ESP,ExAC,TOPMed,gnomAD
rs150822138	p.Val868Leu	missense variant	-	NC_000004.12:g.39300351C>A	ESP,ExAC,TOPMed,gnomAD
rs1272868342	p.Val868Gly	missense variant	-	NC_000004.12:g.39300350A>C	gnomAD
rs755363991	p.Asp872His	missense variant	-	NC_000004.12:g.39300339C>G	ExAC,gnomAD
rs754307909	p.Phe874Leu	missense variant	-	NC_000004.12:g.39300331A>T	ExAC
rs886966688	p.Phe875Leu	missense variant	-	NC_000004.12:g.39300330A>G	TOPMed,gnomAD
rs780591988	p.His876Arg	missense variant	-	NC_000004.12:g.39300326T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser879Ter	stop gained	-	NC_000004.12:g.39300317G>C	NCI-TCGA
rs1464085133	p.Ile880Val	missense variant	-	NC_000004.12:g.39300315T>C	TOPMed,gnomAD
rs755790926	p.Ala881Val	missense variant	-	NC_000004.12:g.39300311G>A	ExAC,gnomAD
rs1368858733	p.Pro882Ser	missense variant	-	NC_000004.12:g.39300309G>A	TOPMed
rs750107361	p.Leu883Val	missense variant	-	NC_000004.12:g.39300306G>C	ExAC
rs140065280	p.Val885Ile	missense variant	-	NC_000004.12:g.39300300C>T	ESP,ExAC,TOPMed,gnomAD
rs1256226898	p.Asn888Asp	missense variant	-	NC_000004.12:g.39300291T>C	TOPMed,gnomAD
rs1253219295	p.Ile890Val	missense variant	-	NC_000004.12:g.39300285T>C	gnomAD
rs762899997	p.His891Leu	missense variant	-	NC_000004.12:g.39300281T>A	ExAC,TOPMed,gnomAD
rs142870671	p.His891Gln	missense variant	-	NC_000004.12:g.39300280G>T	ESP,ExAC,TOPMed,gnomAD
rs890880662	p.Val892Met	missense variant	-	NC_000004.12:g.39300279C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ala896Thr	missense variant	-	NC_000004.12:g.39300267C>T	NCI-TCGA
rs1482464262	p.Ala897Ser	missense variant	-	NC_000004.12:g.39300264C>A	TOPMed
rs773542334	p.Gly898Glu	missense variant	-	NC_000004.12:g.39300260C>T	ExAC,gnomAD
rs765004911	p.Gly899Val	missense variant	-	NC_000004.12:g.39300136C>A	ExAC,gnomAD
rs765004911	p.Gly899Asp	missense variant	-	NC_000004.12:g.39300136C>T	ExAC,gnomAD
rs1307850428	p.Met901Val	missense variant	-	NC_000004.12:g.39300131T>C	gnomAD
rs759394739	p.Met901Ile	missense variant	-	NC_000004.12:g.39300129C>T	ExAC,TOPMed,gnomAD
rs78870520	p.Lys902Glu	missense variant	-	NC_000004.12:g.39300128T>C	ExAC,TOPMed,gnomAD
rs78870520	p.Lys902Ter	stop gained	-	NC_000004.12:g.39300128T>A	ExAC,TOPMed,gnomAD
COSM1485946	p.Lys902Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39300127T>C	NCI-TCGA Cosmic
rs767829817	p.Lys903Glu	missense variant	-	NC_000004.12:g.39300125T>C	ExAC,gnomAD
NCI-TCGA novel	p.His904Tyr	missense variant	-	NC_000004.12:g.39300122G>A	NCI-TCGA
rs774454174	p.Met906Ile	missense variant	-	NC_000004.12:g.39300114C>G	ExAC,gnomAD
rs768864359	p.Leu907Ile	missense variant	-	NC_000004.12:g.39300113G>T	ExAC,TOPMed,gnomAD
rs768864359	p.Leu907Val	missense variant	-	NC_000004.12:g.39300113G>C	ExAC,TOPMed,gnomAD
rs1362838626	p.Asp913Glu	missense variant	-	NC_000004.12:g.39300093G>C	gnomAD
rs975067705	p.Ile915Leu	missense variant	-	NC_000004.12:g.39300089T>A	TOPMed,gnomAD
rs975067705	p.Ile915Val	missense variant	-	NC_000004.12:g.39300089T>C	TOPMed,gnomAD
rs746289718	p.Asp917Ala	missense variant	-	NC_000004.12:g.39300082T>G	ExAC,gnomAD
rs1187786692	p.Asp917Tyr	missense variant	-	NC_000004.12:g.39300083C>A	gnomAD
NCI-TCGA novel	p.Asp917Val	missense variant	-	NC_000004.12:g.39300082T>A	NCI-TCGA
rs1170040935	p.Asp919Glu	missense variant	-	NC_000004.12:g.39300075G>T	gnomAD
COSM273183	p.Val921Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39300070A>G	NCI-TCGA Cosmic
rs1345366198	p.Ser923Gly	missense variant	-	NC_000004.12:g.39300065T>C	TOPMed
NCI-TCGA novel	p.Ser923Asn	missense variant	-	NC_000004.12:g.39300064C>T	NCI-TCGA
rs746646125	p.Gln924Arg	missense variant	-	NC_000004.12:g.39300061T>C	ExAC,gnomAD
rs777206921	p.Ile925Val	missense variant	-	NC_000004.12:g.39300059T>C	ExAC,gnomAD
rs757962310	p.Ile925Met	missense variant	-	NC_000004.12:g.39300057G>C	ExAC,gnomAD
rs765201139	p.Arg926Gln	missense variant	-	NC_000004.12:g.39300055C>T	ExAC,gnomAD
rs752627380	p.Arg926Trp	missense variant	-	NC_000004.12:g.39300056G>A	ExAC,TOPMed,gnomAD
rs754708326	p.Ser927Asn	missense variant	-	NC_000004.12:g.39300052C>T	ExAC,gnomAD
rs375229636	p.Ser932Arg	missense variant	-	NC_000004.12:g.39300036A>C	ESP,ExAC,TOPMed,gnomAD
rs1452932688	p.Leu933Phe	missense variant	-	NC_000004.12:g.39300035G>A	TOPMed
rs372275301	p.Ala936Val	missense variant	-	NC_000004.12:g.39300025G>A	ESP,ExAC,TOPMed,gnomAD
COSM3603574	p.Ala936Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39300025G>C	NCI-TCGA Cosmic
rs1025907552	p.Ala936Pro	missense variant	-	NC_000004.12:g.39300026C>G	TOPMed
NCI-TCGA novel	p.Ala938Thr	missense variant	-	NC_000004.12:g.39295759C>T	NCI-TCGA
rs56273953	p.Ile939Val	missense variant	-	NC_000004.12:g.39295756T>C	ExAC,TOPMed,gnomAD
rs764456357	p.Ala941Gly	missense variant	-	NC_000004.12:g.39295749G>C	ExAC,gnomAD
rs1461904070	p.Gly946Ala	missense variant	-	NC_000004.12:g.39295734C>G	gnomAD
rs752781267	p.Glu947Gly	missense variant	-	NC_000004.12:g.39295731T>C	ExAC,gnomAD
rs535419863	p.Met949Ile	missense variant	-	NC_000004.12:g.39295724C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs777062272	p.Tyr952Phe	missense variant	-	NC_000004.12:g.39295716T>A	ExAC,TOPMed,gnomAD
rs777062272	p.Tyr952Cys	missense variant	-	NC_000004.12:g.39295716T>C	ExAC,TOPMed,gnomAD
rs1469849381	p.Met953Val	missense variant	-	NC_000004.12:g.39295714T>C	TOPMed,gnomAD
rs1469849381	p.Met953Leu	missense variant	-	NC_000004.12:g.39295714T>G	TOPMed,gnomAD
NCI-TCGA novel	p.Met953Ile	missense variant	-	NC_000004.12:g.39295712C>A	NCI-TCGA
rs17335452	p.Gln955Lys	missense variant	-	NC_000004.12:g.39295708G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1458398102	p.Phe956Leu	missense variant	-	NC_000004.12:g.39295705A>G	TOPMed
rs371369749	p.Thr958Ile	missense variant	-	NC_000004.12:g.39295698G>A	ESP,ExAC,gnomAD
rs772831646	p.Phe959Tyr	missense variant	-	NC_000004.12:g.39295695A>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro960Thr	missense variant	-	NC_000004.12:g.39295693G>T	NCI-TCGA
rs771665656	p.His966Tyr	missense variant	-	NC_000004.12:g.39295675G>A	ExAC,gnomAD
NCI-TCGA novel	p.His966Gln	missense variant	-	NC_000004.12:g.39295673G>T	NCI-TCGA
rs1229318967	p.Ser967Leu	missense variant	-	NC_000004.12:g.39295671G>A	gnomAD
rs1229318967	p.Ser967Ter	stop gained	-	NC_000004.12:g.39295671G>T	gnomAD
rs1404139713	p.Thr969Ile	missense variant	-	NC_000004.12:g.39295665G>A	TOPMed
rs1342045831	p.Lys971Arg	missense variant	-	NC_000004.12:g.39295659T>C	TOPMed
rs1372607221	p.His972Tyr	missense variant	-	NC_000004.12:g.39295657G>A	gnomAD
rs768068878	p.Asp973His	missense variant	-	NC_000004.12:g.39295654C>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp973Tyr	missense variant	-	NC_000004.12:g.39295654C>A	NCI-TCGA
rs749239449	p.Arg974His	missense variant	-	NC_000004.12:g.39295650C>T	ExAC,TOPMed,gnomAD
COSM4124578	p.Val976Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39295644A>G	NCI-TCGA Cosmic
rs779893192	p.Gln977Arg	missense variant	-	NC_000004.12:g.39295641T>C	ExAC,gnomAD
rs755911170	p.Ala980Val	missense variant	-	NC_000004.12:g.39295632G>A	ExAC,gnomAD
rs755911170	p.Ala980Gly	missense variant	-	NC_000004.12:g.39295632G>C	ExAC,gnomAD
rs1331380914	p.His982Pro	missense variant	-	NC_000004.12:g.39295626T>G	gnomAD
rs752979455	p.Met983Thr	missense variant	-	NC_000004.12:g.39295623A>G	ExAC,gnomAD
rs758624735	p.Met983Val	missense variant	-	NC_000004.12:g.39295624T>C	ExAC,gnomAD
rs1181166261	p.Ser984Asn	missense variant	-	NC_000004.12:g.39295620C>T	gnomAD
rs748376062	p.Thr987Ser	missense variant	-	NC_000004.12:g.39291850G>C	ExAC,gnomAD
rs755063786	p.Arg992Thr	missense variant	-	NC_000004.12:g.39291835C>G	ExAC,gnomAD
NCI-TCGA novel	p.Arg992Ser	missense variant	-	NC_000004.12:g.39291834C>A	NCI-TCGA
rs963487293	p.Val994Ile	missense variant	-	NC_000004.12:g.39291830C>T	-
rs766512359	p.Met996Val	missense variant	-	NC_000004.12:g.39291824T>C	ExAC,gnomAD
rs1470519769	p.Asp997Asn	missense variant	-	NC_000004.12:g.39291821C>T	TOPMed,gnomAD
rs762236070	p.Arg1003Lys	missense variant	-	NC_000004.12:g.39291802C>T	ExAC,gnomAD
rs774029496	p.Asp1004Glu	missense variant	-	NC_000004.12:g.39291798A>T	ExAC,TOPMed,gnomAD
rs983618925	p.Asp1004His	missense variant	-	NC_000004.12:g.39291800C>G	TOPMed,gnomAD
rs763600225	p.Leu1006Phe	missense variant	-	NC_000004.12:g.39291794G>A	ExAC,gnomAD
rs774793398	p.Val1007Leu	missense variant	-	NC_000004.12:g.39291791C>A	ExAC,TOPMed,gnomAD
rs774793398	p.Val1007Ile	missense variant	-	NC_000004.12:g.39291791C>T	ExAC,TOPMed,gnomAD
COSM1055219	p.Val1015Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39291767C>A	NCI-TCGA Cosmic
rs770817146	p.Gly1017Arg	missense variant	-	NC_000004.12:g.39291761C>T	ExAC,gnomAD
rs147775081	p.Gln1019Arg	missense variant	-	NC_000004.12:g.39291754T>C	ESP,ExAC,TOPMed,gnomAD
rs1430019393	p.Gln1019Glu	missense variant	-	NC_000004.12:g.39291755G>C	TOPMed
NCI-TCGA novel	p.Asp1020Asn	missense variant	-	NC_000004.12:g.39291752C>T	NCI-TCGA
rs903676685	p.Leu1024Arg	missense variant	-	NC_000004.12:g.39291739A>C	TOPMed
rs777646834	p.Met1025Thr	missense variant	-	NC_000004.12:g.39291736A>G	ExAC,TOPMed,gnomAD
rs1334781039	p.Met1025Ile	missense variant	-	NC_000004.12:g.39291735C>T	gnomAD
rs755117925	p.Asp1026Gly	missense variant	-	NC_000004.12:g.39291733T>C	ExAC,gnomAD
rs1230415909	p.Thr1027Ala	missense variant	-	NC_000004.12:g.39291731T>C	gnomAD
rs1431841392	p.Leu1030Met	missense variant	-	NC_000004.12:g.39291722A>T	gnomAD
rs1328417067	p.Glu1033Asp	missense variant	-	NC_000004.12:g.39291711T>G	TOPMed,gnomAD
rs779942577	p.Asp1034His	missense variant	-	NC_000004.12:g.39291710C>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu1036Asp	missense variant	-	NC_000004.12:g.39291702C>A	NCI-TCGA
rs756247646	p.Ile1038Val	missense variant	-	NC_000004.12:g.39291698T>C	ExAC,gnomAD
rs750929464	p.Met1039Val	missense variant	-	NC_000004.12:g.39291695T>C	ExAC,gnomAD
rs1304356415	p.Ile1041Ser	missense variant	-	NC_000004.12:g.39291688A>C	gnomAD
NCI-TCGA novel	p.Ser1042Cys	missense variant	-	NC_000004.12:g.39291686T>A	NCI-TCGA
rs757780127	p.Ser1043Arg	missense variant	-	NC_000004.12:g.39291681G>C	ExAC,TOPMed,gnomAD
rs768056946	p.Ser1043Asn	missense variant	-	NC_000004.12:g.39291682C>T	ExAC,TOPMed,gnomAD
rs1030509258	p.Gly1045Asp	missense variant	-	NC_000004.12:g.39291676C>T	gnomAD
rs1030509258	p.Gly1045Val	missense variant	-	NC_000004.12:g.39291676C>A	gnomAD
rs997813421	p.Ser1049Thr	missense variant	-	NC_000004.12:g.39291664C>G	TOPMed,gnomAD
rs764520516	p.Phe1051Val	missense variant	-	NC_000004.12:g.39291659A>C	ExAC,gnomAD
rs1326050338	p.Ser1052Leu	missense variant	-	NC_000004.12:g.39291655G>A	TOPMed
rs775269581	p.Lys1053Glu	missense variant	-	NC_000004.12:g.39291653T>C	ExAC,TOPMed
rs1224488198	p.Pro1056Ser	missense variant	-	NC_000004.12:g.39291644G>A	gnomAD
rs1306234277	p.Lys1057Gln	missense variant	-	NC_000004.12:g.39291641T>G	gnomAD
rs1321450394	p.Ala1061Thr	missense variant	-	NC_000004.12:g.39290030C>T	TOPMed
rs1258732166	p.Phe1062Leu	missense variant	-	NC_000004.12:g.39290025G>C	gnomAD
rs752260406	p.Thr1063Ile	missense variant	-	NC_000004.12:g.39290023G>A	ExAC,TOPMed,gnomAD
rs1233896388	p.Tyr1066Ter	stop gained	-	NC_000004.12:g.39290013G>C	TOPMed,gnomAD
rs946285194	p.Asn1067Ser	missense variant	-	NC_000004.12:g.39290011T>C	TOPMed,gnomAD
rs765030999	p.Asn1067Tyr	missense variant	-	NC_000004.12:g.39290012T>A	ExAC,TOPMed,gnomAD
rs1303571019	p.Lys1068Glu	missense variant	-	NC_000004.12:g.39290009T>C	gnomAD
rs1222086660	p.Glu1069Lys	missense variant	-	NC_000004.12:g.39290006C>T	gnomAD
rs759284813	p.His1071Arg	missense variant	-	NC_000004.12:g.39289999T>C	ExAC,TOPMed,gnomAD
rs753359174	p.Leu1072Val	missense variant	-	NC_000004.12:g.39289997G>C	ExAC,TOPMed,gnomAD
COSM5131746	p.Pro1074Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39289991G>A	NCI-TCGA Cosmic
rs1007672189	p.Pro1074Leu	missense variant	-	NC_000004.12:g.39289990G>A	gnomAD
rs765992803	p.Pro1074Ala	missense variant	-	NC_000004.12:g.39289991G>C	ExAC,gnomAD
rs142067677	p.Tyr1075Ser	missense variant	-	NC_000004.12:g.39289987T>G	ESP,ExAC,TOPMed,gnomAD
rs775671826	p.Ala1079Asp	missense variant	-	NC_000004.12:g.39289975G>T	ExAC,TOPMed,gnomAD
rs903917735	p.Lys1081Gln	missense variant	-	NC_000004.12:g.39289970T>G	TOPMed,gnomAD
rs903917735	p.Lys1081Glu	missense variant	-	NC_000004.12:g.39289970T>C	TOPMed,gnomAD
rs368875528	p.Ala1082Ser	missense variant	-	NC_000004.12:g.39289967C>A	ESP,ExAC,TOPMed
rs746091232	p.His1085Tyr	missense variant	-	NC_000004.12:g.39289958G>A	ExAC,gnomAD
rs538858430	p.Thr1087Arg	missense variant	-	NC_000004.12:g.39289951G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs538858430	p.Thr1087Ile	missense variant	-	NC_000004.12:g.39289951G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs771098449	p.Ser1088Asn	missense variant	-	NC_000004.12:g.39289948C>T	ExAC,gnomAD
rs1486129072	p.Ser1090Pro	missense variant	-	NC_000004.12:g.39289943A>G	gnomAD
rs747464005	p.Ser1090Phe	missense variant	-	NC_000004.12:g.39289942G>A	ExAC,gnomAD
rs1486129072	p.Ser1090Thr	missense variant	-	NC_000004.12:g.39289943A>T	gnomAD
NCI-TCGA novel	p.Leu1091Met	missense variant	-	NC_000004.12:g.39289940G>T	NCI-TCGA
NCI-TCGA novel	p.Asp1092Tyr	missense variant	-	NC_000004.12:g.39289937C>A	NCI-TCGA
rs758666616	p.Ser1093Leu	missense variant	-	NC_000004.12:g.39289933G>A	ExAC,gnomAD
rs1285016083	p.Asn1096Ser	missense variant	-	NC_000004.12:g.39289924T>C	gnomAD
NCI-TCGA novel	p.Glu1098Ter	stop gained	-	NC_000004.12:g.39289919C>A	NCI-TCGA
rs1291228921	p.Asn1100His	missense variant	-	NC_000004.12:g.39289913T>G	TOPMed,gnomAD
rs1450848204	p.Asp1102Gly	missense variant	-	NC_000004.12:g.39289906T>C	TOPMed
rs377688011	p.Gln1105Ter	stop gained	-	NC_000004.12:g.39289898G>A	ESP,ExAC,TOPMed,gnomAD
rs549951885	p.Ser1106Cys	missense variant	-	NC_000004.12:g.39289894G>C	1000Genomes,ExAC,gnomAD
rs1360400460	p.Asp1107Glu	missense variant	-	NC_000004.12:g.39289890A>T	gnomAD
rs1351774094	p.Ala1113Asp	missense variant	-	NC_000004.12:g.39289873G>T	TOPMed
rs1288643281	p.Ala1113Pro	missense variant	-	NC_000004.12:g.39289874C>G	gnomAD
rs1451149913	p.Glu1115Asp	missense variant	-	NC_000004.12:g.39289866T>G	TOPMed,gnomAD
COSM6100011	p.Met1119Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39289854C>G	NCI-TCGA Cosmic
rs1431812840	p.Met1119Lys	missense variant	-	NC_000004.12:g.39289855A>T	gnomAD
rs1347153662	p.Ile1120Phe	missense variant	-	NC_000004.12:g.39289853T>A	gnomAD
NCI-TCGA novel	p.Ile1120Met	missense variant	-	NC_000004.12:g.39289851G>C	NCI-TCGA
rs1164773602	p.Lys1123Asn	missense variant	-	NC_000004.12:g.39288839C>G	TOPMed,gnomAD
rs1004627601	p.Thr1124Lys	missense variant	-	NC_000004.12:g.39288837G>T	TOPMed,gnomAD
rs1004627601	p.Thr1124Arg	missense variant	-	NC_000004.12:g.39288837G>C	TOPMed,gnomAD
COSM1429612	p.Lys1125Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39288835T>G	NCI-TCGA Cosmic
rs748946392	p.Lys1125Glu	missense variant	-	NC_000004.12:g.39288835T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1127Leu	missense variant	-	NC_000004.12:g.39288828G>A	NCI-TCGA
NCI-TCGA novel	p.Ser1127Ter	frameshift	-	NC_000004.12:g.39288828G>-	NCI-TCGA
rs1434820858	p.Lys1128Gln	missense variant	-	NC_000004.12:g.39288826T>G	TOPMed,gnomAD
rs1434820858	p.Lys1128Glu	missense variant	-	NC_000004.12:g.39288826T>C	TOPMed,gnomAD
rs755561864	p.Pro1129Ser	missense variant	-	NC_000004.12:g.39288823G>A	ExAC,TOPMed,gnomAD
COSM4124575	p.Lys1131Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39288817T>G	NCI-TCGA Cosmic
rs749903526	p.Pro1132Thr	missense variant	-	NC_000004.12:g.39288814G>T	ExAC,gnomAD
rs749903526	p.Pro1132Ser	missense variant	-	NC_000004.12:g.39288814G>A	ExAC,gnomAD
rs1190631383	p.Asp1135Gly	missense variant	-	NC_000004.12:g.39288804T>C	gnomAD
COSM420594	p.Asp1135His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39288805C>G	NCI-TCGA Cosmic
rs1259455289	p.Pro1138Leu	missense variant	-	NC_000004.12:g.39288795G>A	gnomAD
NCI-TCGA novel	p.Gly1143Arg	missense variant	-	NC_000004.12:g.39288781C>T	NCI-TCGA
rs1252432568	p.Ser1145Thr	missense variant	-	NC_000004.12:g.39288774C>G	gnomAD
rs766937786	p.Ser1146Ala	missense variant	-	NC_000004.12:g.39288772A>C	ExAC,gnomAD
rs17288828	p.Ser1146Leu	missense variant	-	NC_000004.12:g.39288771G>A	ESP,ExAC,TOPMed,gnomAD
COSM1055217	p.Lys1147Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39288767C>A	NCI-TCGA Cosmic
rs369353126	p.Lys1147Glu	missense variant	-	NC_000004.12:g.39288769T>C	ESP,ExAC,TOPMed,gnomAD
rs149767968	p.Ter1149Arg	stop lost	-	NC_000004.12:g.39288763A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ter1149LeuGluUnkThrTerUnkUnk	stop lost	-	NC_000004.12:g.39288762C>A	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001973	Alcoholic Intoxication, Chronic	disease	PSYGENET
C0002395	Alzheimer's Disease	disease	BEFREE
C0003873	Rheumatoid Arthritis	disease	BEFREE
C0004352	Autistic Disorder	group	BEFREE
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007102	Malignant tumor of colon	disease	CTD_human
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0009375	Colonic Neoplasms	group	CTD_human
C0009402	Colorectal Carcinoma	disease	BEFREE
C0010068	Coronary heart disease	disease	BEFREE
C0013080	Down Syndrome	disease	BEFREE;LHGDN
C0016412	Folic Acid Deficiency	disease	BEFREE
C0021294	Infant, Premature	phenotype	BEFREE
C0023418	leukemia	disease	BEFREE
C0023449	Acute lymphocytic leukemia	disease	BEFREE
C0023452	Childhood Acute Lymphoblastic Leukemia	disease	BEFREE
C0024299	Lymphoma	group	LHGDN
C0024305	Lymphoma, Non-Hodgkin	disease	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025286	Meningioma	disease	LHGDN
C0027794	Neural Tube Defects	group	BEFREE
C0029463	Osteosarcoma	disease	BEFREE;CTD_human
C0030567	Parkinson Disease	disease	BEFREE
C0035335	Retinoblastoma	disease	BEFREE
C0042373	Vascular Diseases	group	BEFREE
C0079744	Diffuse Large B-Cell Lymphoma	disease	BEFREE
C0080174	Spina Bifida Occulta	disease	BEFREE
C0080178	Spina Bifida	disease	BEFREE
C0280803	Primary central nervous system lymphoma	disease	BEFREE
C0338656	Impaired cognition	disease	BEFREE
C0369183	Erythrocyte Mean Corpuscular Hemoglobin Test	phenotype	GWASCAT
C0376545	Hematologic Neoplasms	group	BEFREE
C0524528	Pervasive Development Disorder	group	BEFREE
C0524587	Mean Corpuscular Volume (result)	phenotype	GWASCAT
C0546837	Malignant neoplasm of esophagus	disease	BEFREE
C0585442	Osteosarcoma of bone	disease	BEFREE
C0598608	Hyperhomocysteinemia	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0694571	extranodal lymphoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0751606	Adult Acute Lymphocytic Leukemia	disease	BEFREE
C0856825	Acute GVH disease	disease	BEFREE
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1261502	Finding of Mean Corpuscular Hemoglobin	phenotype	GWASCAT
C1292769	Precursor B-cell lymphoblastic leukemia	disease	BEFREE
C1510586	Autism Spectrum Disorders	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1853238	Conotruncal defect	disease	BEFREE
C1961102	Precursor Cell Lymphoblastic Leukemia Lymphoma	disease	LHGDN
C3887461	Head and Neck Carcinoma	disease	BEFREE
C3888194	MIXED LINEAGE LEUKEMIA	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003677	DNA binding	IBA
GO:0003689	DNA clamp loader activity	IEA
GO:0003690	double-stranded DNA binding	IEA
GO:0005515	protein binding	IPI
GO:0005524	ATP binding	IEA
GO:0008047	enzyme activator activity	TAS
GO:0019904	protein domain specific binding	IEA
GO:0043565	sequence-specific DNA binding	IEA
GO:0061860	DNA clamp unloader activity	IMP

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA
GO:0006261	DNA-dependent DNA replication	TAS
GO:0006283	transcription-coupled nucleotide-excision repair	TAS
GO:0006296	nucleotide-excision repair, DNA incision, 5'-to lesion	TAS
GO:0006297	nucleotide-excision repair, DNA gap filling	TAS
GO:0007004	telomere maintenance via telomerase	TAS
GO:0019985	translesion synthesis	TAS
GO:0032201	telomere maintenance via semi-conservative replication	TAS
GO:0033683	nucleotide-excision repair, DNA incision	TAS
GO:0042276	error-prone translesion synthesis	TAS
GO:0042769	DNA damage response, detection of DNA damage	TAS
GO:0043085	positive regulation of catalytic activity	IEA
GO:0045893	positive regulation of transcription, DNA-templated	IEA
GO:0070987	error-free translesion synthesis	TAS
GO:0090618	DNA clamp unloading	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IBA
GO:0005654	nucleoplasm	IDA
GO:0005654	nucleoplasm	TAS
GO:0005663	DNA replication factor C complex	IDA
GO:0005730	nucleolus	IEA
GO:0005737	cytoplasm	IEA
GO:0031391	Elg1 RFC-like complex	IDA
GO:0070062	extracellular exosome	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-110312	Translesion synthesis by REV1	TAS
R-HSA-110313	Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template	TAS
R-HSA-110314	Recognition of DNA damage by PCNA-containing replication complex	TAS
R-HSA-110320	Translesion Synthesis by POLH	TAS
R-HSA-110373	Resolution of AP sites via the multiple-nucleotide patch replacement pathway	TAS
R-HSA-157579	Telomere Maintenance	TAS
R-HSA-1640170	Cell Cycle	TAS
R-HSA-174411	Polymerase switching on the C-strand of the telomere	TAS
R-HSA-174417	Telomere C-strand (Lagging Strand) Synthesis	TAS
R-HSA-180786	Extension of Telomeres	TAS
R-HSA-5651801	PCNA-Dependent Long Patch Base Excision Repair	TAS
R-HSA-5655862	Translesion synthesis by POLK	TAS
R-HSA-5656121	Translesion synthesis by POLI	TAS
R-HSA-5656169	Termination of translesion DNA synthesis	TAS
R-HSA-5685942	HDR through Homologous Recombination (HRR)	TAS
R-HSA-5693532	DNA Double-Strand Break Repair	TAS
R-HSA-5693538	Homology Directed Repair	TAS
R-HSA-5693567	HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)	TAS
R-HSA-5696397	Gap-filling DNA repair synthesis and ligation in GG-NER	TAS
R-HSA-5696398	Nucleotide Excision Repair	TAS
R-HSA-5696399	Global Genome Nucleotide Excision Repair (GG-NER)	TAS
R-HSA-5696400	Dual Incision in GG-NER	TAS
R-HSA-6781827	Transcription-Coupled Nucleotide Excision Repair (TC-NER)	TAS
R-HSA-6782135	Dual incision in TC-NER	TAS
R-HSA-6782210	Gap-filling DNA repair synthesis and ligation in TC-NER	TAS
R-HSA-69091	Polymerase switching	TAS
R-HSA-69109	Leading Strand Synthesis	TAS
R-HSA-69186	Lagging Strand Synthesis	TAS
R-HSA-69190	DNA strand elongation	TAS
R-HSA-69239	Synthesis of DNA	TAS
R-HSA-69242	S Phase	TAS
R-HSA-69278	Cell Cycle, Mitotic	TAS
R-HSA-69306	DNA Replication	TAS
R-HSA-73884	Base Excision Repair	TAS
R-HSA-73886	Chromosome Maintenance	TAS
R-HSA-73893	DNA Damage Bypass	TAS
R-HSA-73894	DNA Repair	TAS
R-HSA-73933	Resolution of Abasic Sites (AP sites)	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C029790	2,2',3',4,4',5-hexachlorobiphenyl	2,2',3',4,4',5-hexachlorobiphenyl results in increased expression of RFC1 mRNA	23829299
C078765	2,3,5-(triglutathion-S-yl)hydroquinone	2,3,5-(triglutathion-S-yl)hydroquinone results in decreased ADP-ribosylation of RFC1 protein	31165168
C009407	2,5,2',5'-tetrachlorobiphenyl	2,5,2',5'-tetrachlorobiphenyl results in decreased expression of RFC1 mRNA	23829299
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of RFC1 mRNA	19150397; 20382639;
D000082	Acetaminophen	Acetaminophen results in decreased expression of RFC1 mRNA	21420995; 22230336;
D000082	Acetaminophen	Acetaminophen affects the expression of RFC1 mRNA	17562736
D000225	Adenine	Adenine results in decreased expression of RFC1 mRNA	24211769
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of RFC1 gene	28458013
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of RFC1 mRNA	19770486
D000393	Air Pollutants	Air Pollutants analog results in increased expression of RFC1 mRNA	21757418
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of RFC1 mRNA	24449571
D001151	Arsenic	Arsenic affects the methylation of RFC1 gene	25304211
D001280	Atrazine	Atrazine results in increased expression of RFC1 mRNA	25929836
D001280	Atrazine	Atrazine affects the methylation of RFC1 gene	28931070
C006780	bisphenol A	bisphenol A affects the expression of RFC1 mRNA	21786754
C006780	bisphenol A	bisphenol A affects the expression of RFC1 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of RFC1 protein	24552547
C006780	bisphenol A	bisphenol A results in decreased expression of RFC1 mRNA	26794494
C005961	bis(tri-n-butyltin)oxide	bis(tri-n-butyltin)oxide results in decreased phosphorylation of RFC1 protein	22174045
C055494	caffeic acid phenethyl ester	[Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of RFC1 mRNA	20360939
D002220	Carbamazepine	Carbamazepine affects the expression of RFC1 mRNA	25979313
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of RFC1 mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of RFC1 mRNA]	31150632
D002945	Cisplatin	Cisplatin results in decreased expression of RFC1 mRNA	24211769
D002945	Cisplatin	Cisplatin results in increased expression of RFC1 mRNA	27594783
D002945	Cisplatin	Cisplatin results in increased expression of RFC1 mRNA	21151649
D003078	Colchicine	Colchicine results in decreased expression of RFC1 mRNA	24211769
C408982	CPG-oligonucleotide	CPG-oligonucleotide results in decreased expression of RFC1 mRNA	21878529
D016572	Cyclosporine	Cyclosporine results in increased expression of RFC1 mRNA	27989131
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of RFC1 mRNA]	27941970
C000944	dicrotophos	dicrotophos results in decreased expression of RFC1 mRNA	28302478
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased expression of RFC1 mRNA	17854601
D004052	Diethylnitrosamine	RB1 protein inhibits the reaction [Diethylnitrosamine results in increased expression of RFC1 mRNA]	17854601
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of RFC1 mRNA	20360939
D004317	Doxorubicin	Doxorubicin results in decreased expression of RFC1 mRNA	29803840
D004317	Doxorubicin	RFC1 protein results in decreased susceptibility to Doxorubicin	24675091
D013759	Dronabinol	Dronabinol affects the methylation of RFC1 gene	26044905
D000431	Ethanol	Ethanol results in decreased expression of RFC1 mRNA	23378141
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of RFC1 mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of RFC1 mRNA	17942748
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of RFC1 mRNA	23129252
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in decreased expression of RFC1 mRNA	24211769
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in increased expression of RFC1 mRNA	23649840
D005047	Etoposide	Etoposide results in decreased expression of RFC1 mRNA	24211769
D018120	Finasteride	Finasteride results in increased expression of RFC1 mRNA	24136188
D005492	Folic Acid	RFC1 protein mutant form promotes the reaction [FOLR1 protein mutant form results in decreased abundance of Folic Acid]	18926688
D005839	Gentamicins	Gentamicins results in increased expression of RFC1 mRNA	22061828
D005897	Glafenine	Glafenine results in decreased expression of RFC1 mRNA	24136188
C492448	ICG 001	ICG 001 results in increased expression of RFC1 mRNA	26191083
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of RFC1 mRNA	25613284
D000077339	Leflunomide	Leflunomide results in increased expression of RFC1 mRNA	24136188
C482199	lipopolysaccharide, E coli O55-B5	lipopolysaccharide, E coli O55-B5 results in increased expression of RFC1 mRNA	24972896
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased expression of RFC1 mRNA	10975854
D008694	Methamphetamine	Methamphetamine affects the expression of RFC1 mRNA	29802913
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of RFC1 mRNA	24211769
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of RFC1 mRNA	23649840
D016685	Mitomycin	Mitomycin results in decreased expression of RFC1 mRNA	24211769
C000622638	MLN7243	MLN7243 results in increased sumoylation of RFC1 protein	31285264
D009534	Niclosamide	Niclosamide results in increased expression of RFC1 mRNA	31398420
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of RFC1 mRNA	19162173
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of RFC1 protein	26879310
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of RFC1 mRNA	19162173
D010634	Phenobarbital	Phenobarbital results in decreased expression of RFC1 mRNA	23091169
C006253	pirinixic acid	pirinixic acid results in decreased expression of RFC1 mRNA	18445702
D010936	Plant Extracts	Plant Extracts results in decreased expression of RFC1 mRNA	24677778
C027373	potassium chromate(VI)	potassium chromate(VI) results in increased expression of RFC1 mRNA	22714537
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of RFC1 mRNA]	31150632
C017947	sodium arsenite	sodium arsenite results in decreased expression of RFC1 mRNA	12760830
D012999	Soman	Soman results in decreased expression of RFC1 mRNA	19281266
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of RFC1 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of RFC1 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of RFC1 mRNA	17942748
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of RFC1 mRNA	25613284
D013849	Thimerosal	Thimerosal results in increased expression of RFC1 mRNA	24675092
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of RFC1 protein	30291989
C013320	tris(2-butoxyethyl) phosphate	tris(2-butoxyethyl) phosphate results in decreased expression of RFC1 mRNA	29024780
D000077288	Troglitazone	Troglitazone results in decreased expression of RFC1 mRNA	28973697
D014414	Tungsten	Tungsten results in decreased expression of RFC1 mRNA	30912803
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of RFC1 gene	25560391
C070417	Win 55212-2	Win 55212-2 results in increased expression of RFC1 mRNA	12237329

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0010	Activator
KW-0025	Alternative splicing
KW-0067	ATP-binding
KW-0903	Direct protein sequencing
KW-0235	DNA replication
KW-0238	DNA-binding
KW-1017	Isopeptide bond
KW-0622	Neuropathy
KW-0547	Nucleotide-binding
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0832	Ubl conjugation

Interpro

InterPro ID	InterPro Term
IPR003593	AAA+_ATPase
IPR003959	ATPase_AAA_core
IPR001357	BRCT_dom
IPR036420	BRCT_dom_sf
IPR008921	DNA_pol3_clamp-load_cplx_C
IPR013725	DNA_replication_fac_RFC1_C
IPR027417	P-loop_NTPase
IPR012178	RFC1

PROSITE

PROSITE ID	PROSITE Term
PS50172	BRCT

Pfam

Pfam ID	Pfam Term
PF00004	AAA
PF00533	BRCT
PF08519	RFC1

Gene: RFC1

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

Protein-miRNA interaction