CleftGeneDB-Search

Gene: MROH7

Basic information

Tag	Content
Uniprot ID	Q68CQ1; A0AUX8; Q5TA99; Q6ZP40; Q6ZRH6; Q8N311; Q8NA14;
Entrez ID	374977
Genbank protein ID	AAI26127.1; CAH18687.1; AAH29191.1; BAC04116.1; BAC85285.1; BAC87334.1;
Genbank nucleotide ID	NM_001039464.3
Ensembl protein ID	ENSP00000394373; ENSP00000388181; ENSP00000396622; ENSP00000404780; ENSP00000379044;
Ensembl nucleotide ID	ENSG00000184313
Gene name	Maestro heat-like repeat-containing protein family member 7
Gene symbol	MROH7
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26449438
Functional description
Sequence	MALSPGANLV FHEDPKMTPS PPSCGAPGLG SGTIPQPHPD MAQVPMLNLL PSPGLALVPD 60 LNDSLSPVSG EASGLVSENT PRPDDSRAIA PASLQITSSC SGEALDLDSK DVSRPDSQGR 120 LCPASNPILS PSSTEAPRLS SGNHPQSNSE DAFKCLSSKI FKLGQRNSNP SRHELNPFIR 180 HHSREGLVLG HCISRPSSKA LLIPTSNSSL DLDSNPLLNM GSRNTSKLNL NVAPDSHGTL 240 IPDTNETITL ASHNISESVS KGAFSTTWST SSKETMNVAS SGHSRSDLSV TITQASYVTL 300 IPGSSYGISL HSSTHEPNST ISPPSCMTLI LGSNETLSLD SSLLFSDTST LTLSSQQDDA 360 KDNSIHTVPL EENLESWSEM ASIKVGQFPL GFPISNPAGK DAVTLQGIPE GAFDEVTSCL 420 VKVPEKTEGG NNMALVENVT TLQKSQDLLE AEGEKKTMIK KIMRQIQEEP LDSLSSSVRK 480 QAMEILTQLS HTQPTLGMRE RSELVNVCVH SVFSLPSVQA MQEKDEAKAE TIQALYHQTL 540 EALQTLLKAL FIEDPTPAGL KSILEALGPW MNSGKAHERA RAVNTNVSVL NHMLLTLPFF 600 MPLGFPALGL LLGRLILHIG DPDEEIGCEA LDGIIILYTI LELQKRARDK EETNKKELYE 660 SNKHFLGPYN PVSPCQNILR VIEEFGDFLG PQQIKDLLLA ALEGLKGSSE APGKDSREMM 720 QLASEVMLSS VLEWYRHRAL EVIPEIMQGI YMQLSHIQEP RARQVALLPV SLLASSFMTE 780 VVVALLMCPL PLNSNGAEMW RQLILCKPSC DVRDLLDLLL GSLKEKPVTK EGRASIVPLA 840 AASGLCELLS VNSCMGRVRR IYPQLLLALL IQVHYHIGLN LPGCVAPPKD TKKGAQPSPF 900 VPVRWVVKVV KTLLLRMGCS YETTFLEDQG GWELMEQVES HHRGVALLAR AMVQYSCQEL 960 CRILYLLIPL LERGDEKHRI TATAFFVELL QMEQVRRIPE EYSLGRMAEG LSHHDPIMKV 1020 LSIRGLVILA RRSEKTAKVK ALLPSMVKGL KNMDGMLVVE AVHNLKAVFK GRDQKLMDSA 1080 VYVEMLQILL PHFSDAREVV RSSCINLYGK VVQKLRAPRT QAMEEQLVST LVPLLLTMQE 1140 GNSKVSQKCV KTLLRCSYFM AWELPKRAYS RKPWDNQQQT VAKICKCLVN THRDSAFIFL 1200 SQSLEYAKNS RASLRKCSVM FIGSLVPCME SIMTEDRLNE VKAALDNLRH DPEASVCIYA 1260 AQVQDHILAS CWQNSWLPHG NSWVCYSATT HRWSPSCENL PTSHQRRSWI MQALGSWKMS 1320 LKK 1323

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs757759074	p.Ala2Pro	missense variant	-	NC_000001.11:g.54652930G>C	ExAC,gnomAD
rs372421581	p.Ala2Val	missense variant	-	NC_000001.11:g.54652931C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro5Ser	missense variant	-	NC_000001.11:g.54652939C>T	NCI-TCGA
rs1266117898	p.Gly6Trp	missense variant	-	NC_000001.11:g.54652942G>T	gnomAD
rs750824933	p.Asn8Asp	missense variant	-	NC_000001.11:g.54652948A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu13Asp	missense variant	-	NC_000001.11:g.54652965A>C	NCI-TCGA
NCI-TCGA novel	p.Glu13Lys	missense variant	-	NC_000001.11:g.54652963G>A	NCI-TCGA
rs534829796	p.Glu13Gly	missense variant	-	NC_000001.11:g.54652964A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp14Tyr	missense variant	-	NC_000001.11:g.54652966G>T	NCI-TCGA
rs990291011	p.Asp14His	missense variant	-	NC_000001.11:g.54652966G>C	TOPMed,gnomAD
rs990291011	p.Asp14Asn	missense variant	-	NC_000001.11:g.54652966G>A	TOPMed,gnomAD
rs771543965	p.Pro15Thr	missense variant	-	NC_000001.11:g.54652969C>A	ExAC,TOPMed,gnomAD
rs771543965	p.Pro15Ser	missense variant	-	NC_000001.11:g.54652969C>T	ExAC,TOPMed,gnomAD
rs771543965	p.Pro15Ala	missense variant	-	NC_000001.11:g.54652969C>G	ExAC,TOPMed,gnomAD
rs1459939669	p.Lys16Asn	missense variant	-	NC_000001.11:g.54652974G>T	gnomAD
rs777160579	p.Met17Leu	missense variant	-	NC_000001.11:g.54652975A>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr18Ile	missense variant	-	NC_000001.11:g.54652979C>T	NCI-TCGA
rs1315666449	p.Pro21Thr	missense variant	-	NC_000001.11:g.54652987C>A	TOPMed
rs746954048	p.Pro22Arg	missense variant	-	NC_000001.11:g.54652991C>G	ExAC,gnomAD
rs746954048	p.Pro22His	missense variant	-	NC_000001.11:g.54652991C>A	ExAC,gnomAD
rs746143056	p.Ser23ProPheSerTerUnk	frameshift	-	NC_000001.11:g.54652987C>-	NCI-TCGA
NCI-TCGA novel	p.Ser23LeuPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.54652986_54652987insC	NCI-TCGA
rs1414202741	p.Gly25Glu	missense variant	-	NC_000001.11:g.54653000G>A	gnomAD
rs769736721	p.Pro27Leu	missense variant	-	NC_000001.11:g.54653006C>T	ExAC,TOPMed,gnomAD
rs1295180098	p.Pro27Ser	missense variant	-	NC_000001.11:g.54653005C>T	gnomAD
rs763092895	p.Gly30Arg	missense variant	-	NC_000001.11:g.54653014G>A	ExAC,gnomAD
rs763092895	p.Gly30Arg	missense variant	-	NC_000001.11:g.54653014G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser31Pro	missense variant	-	NC_000001.11:g.54653017T>C	NCI-TCGA
rs1353652131	p.Ser31Cys	missense variant	-	NC_000001.11:g.54653018C>G	gnomAD
rs764217818	p.Gly32Asp	missense variant	-	NC_000001.11:g.54653021G>A	ExAC,TOPMed
COSM1718221	p.Thr33Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653024C>T	NCI-TCGA Cosmic
rs1206330469	p.Ile34Ser	missense variant	-	NC_000001.11:g.54653027T>G	gnomAD
rs774357268	p.Pro35Ala	missense variant	-	NC_000001.11:g.54653029C>G	ExAC,TOPMed,gnomAD
rs774357268	p.Pro35Ser	missense variant	-	NC_000001.11:g.54653029C>T	ExAC,TOPMed,gnomAD
rs762348183	p.Gln36Ter	stop gained	-	NC_000001.11:g.54653032C>T	ExAC,gnomAD
rs1426952467	p.Pro37Leu	missense variant	-	NC_000001.11:g.54653036C>T	TOPMed
rs768059001	p.Pro37Ser	missense variant	-	NC_000001.11:g.54653035C>T	ExAC,gnomAD
rs1425881394	p.His38Pro	missense variant	-	NC_000001.11:g.54653039A>C	TOPMed,gnomAD
rs1246595752	p.His38Asp	missense variant	-	NC_000001.11:g.54653038C>G	gnomAD
rs756427950	p.Pro39Leu	missense variant	-	NC_000001.11:g.54653042C>T	ExAC,gnomAD
rs750949750	p.Pro39Thr	missense variant	-	NC_000001.11:g.54653041C>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp40Tyr	missense variant	-	NC_000001.11:g.54653044G>T	NCI-TCGA
rs1161548342	p.Asp40Glu	missense variant	-	NC_000001.11:g.54653046C>A	gnomAD
rs371212227	p.Met41Val	missense variant	-	NC_000001.11:g.54653047A>G	ESP,ExAC,TOPMed,gnomAD
rs758045075	p.Met41Ile	missense variant	-	NC_000001.11:g.54653049G>A	ExAC
rs752336439	p.Met41Arg	missense variant	-	NC_000001.11:g.54653048T>G	ExAC,gnomAD
COSM3490878	p.Ala42Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653050G>A	NCI-TCGA Cosmic
rs1318731839	p.Ala42Asp	missense variant	-	NC_000001.11:g.54653051C>A	gnomAD
rs1318731839	p.Ala42Val	missense variant	-	NC_000001.11:g.54653051C>T	gnomAD
rs1443320391	p.Gln43Pro	missense variant	-	NC_000001.11:g.54653054A>C	TOPMed
rs777333204	p.Gln43His	missense variant	-	NC_000001.11:g.54653055G>T	ExAC,gnomAD
rs547740508	p.Val44Ala	missense variant	-	NC_000001.11:g.54653057T>C	ExAC,TOPMed,gnomAD
rs781230144	p.Met46Ile	missense variant	-	NC_000001.11:g.54653064G>A	ExAC,gnomAD
rs1038809482	p.Met46Val	missense variant	-	NC_000001.11:g.54653062A>G	TOPMed,gnomAD
rs1402091659	p.Leu50Ile	missense variant	-	NC_000001.11:g.54653074C>A	gnomAD
rs1268261811	p.Pro51Ala	missense variant	-	NC_000001.11:g.54653077C>G	gnomAD
rs769649902	p.Pro51Leu	missense variant	-	NC_000001.11:g.54653078C>T	ExAC,gnomAD
rs1484449877	p.Ser52Arg	missense variant	-	NC_000001.11:g.54653082T>A	TOPMed,gnomAD
rs374996813	p.Ser52Gly	missense variant	-	NC_000001.11:g.54653080A>G	ESP,ExAC,TOPMed,gnomAD
rs1201444129	p.Gly54Cys	missense variant	-	NC_000001.11:g.54653086G>T	gnomAD
rs1422625194	p.Leu55Trp	missense variant	-	NC_000001.11:g.54653090T>G	gnomAD
NCI-TCGA novel	p.Ala56Thr	missense variant	-	NC_000001.11:g.54653092G>A	NCI-TCGA
rs577982847	p.Leu57Val	missense variant	-	NC_000001.11:g.54653095C>G	1000Genomes,ExAC,gnomAD
rs761828972	p.Val58Phe	missense variant	-	NC_000001.11:g.54653098G>T	ExAC,TOPMed,gnomAD
rs761828972	p.Val58Ile	missense variant	-	NC_000001.11:g.54653098G>A	ExAC,TOPMed,gnomAD
COSM3985147	p.Asp60Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653105A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu61Arg	missense variant	-	NC_000001.11:g.54653108T>G	NCI-TCGA
rs376881648	p.Leu61Pro	missense variant	-	NC_000001.11:g.54653108T>C	ESP,ExAC,TOPMed,gnomAD
rs1302119234	p.Asp63Asn	missense variant	-	NC_000001.11:g.54653113G>A	gnomAD
rs150191046	p.Ser64Cys	missense variant	-	NC_000001.11:g.54653117C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1343514	p.Ser64Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653117C>A	NCI-TCGA Cosmic
rs150191046	p.Ser64Phe	missense variant	-	NC_000001.11:g.54653117C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu65Phe	missense variant	-	NC_000001.11:g.54653121G>C	NCI-TCGA
rs754223717	p.Ser66Gly	missense variant	-	NC_000001.11:g.54653122A>G	ExAC,gnomAD
rs758037622	p.Pro67Ser	missense variant	-	NC_000001.11:g.54653125C>T	ExAC,gnomAD
COSM4820465	p.Ser69Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.54653132C>G	NCI-TCGA Cosmic
rs756790243	p.Gly74Asp	missense variant	-	NC_000001.11:g.54653147G>A	ExAC,gnomAD
rs1255822119	p.Val76Leu	missense variant	-	NC_000001.11:g.54653152G>C	gnomAD
rs192479874	p.Glu78Gly	missense variant	-	NC_000001.11:g.54653159A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs192479874	p.Glu78Ala	missense variant	-	NC_000001.11:g.54653159A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756183210	p.Thr80Ala	missense variant	-	NC_000001.11:g.54653164A>G	ExAC,TOPMed,gnomAD
rs779864108	p.Thr80Ser	missense variant	-	NC_000001.11:g.54653165C>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro81Leu	missense variant	-	NC_000001.11:g.54653168C>T	NCI-TCGA
rs749083568	p.Arg82Ser	missense variant	-	NC_000001.11:g.54653172A>T	ExAC
rs748424041	p.Asp84Glu	missense variant	-	NC_000001.11:g.54653178T>G	ExAC,gnomAD
rs1427353483	p.Asp85Glu	missense variant	-	NC_000001.11:g.54653181C>G	gnomAD
COSM4822643	p.Arg87Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653186G>C	NCI-TCGA Cosmic
rs138958132	p.Ala88Thr	missense variant	-	NC_000001.11:g.54653188G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs369773156	p.Pro91Leu	missense variant	-	NC_000001.11:g.54653198C>T	ESP,ExAC,TOPMed,gnomAD
rs1431327811	p.Pro91Ser	missense variant	-	NC_000001.11:g.54653197C>T	gnomAD
rs1490566770	p.Ala92Pro	missense variant	-	NC_000001.11:g.54653200G>C	TOPMed
rs771382138	p.Ser93Tyr	missense variant	-	NC_000001.11:g.54653204C>A	ExAC,TOPMed,gnomAD
rs377717151	p.Gln95His	missense variant	-	NC_000001.11:g.54653211G>T	ESP,ExAC,TOPMed,gnomAD
rs981667870	p.Ile96Val	missense variant	-	NC_000001.11:g.54653212A>G	TOPMed
rs1224214821	p.Ile96Asn	missense variant	-	NC_000001.11:g.54653213T>A	TOPMed
NCI-TCGA novel	p.Thr97Ala	missense variant	-	NC_000001.11:g.54653215A>G	NCI-TCGA
rs951015500	p.Ser98Ile	missense variant	-	NC_000001.11:g.54653219G>T	gnomAD
NCI-TCGA novel	p.Ser99Phe	missense variant	-	NC_000001.11:g.54653222C>T	NCI-TCGA
rs1478147462	p.Cys100Trp	missense variant	-	NC_000001.11:g.54653226T>G	gnomAD
rs765668531	p.Ser101Pro	missense variant	-	NC_000001.11:g.54653227T>C	ExAC,gnomAD
rs1342162428	p.Ser101Phe	missense variant	-	NC_000001.11:g.54653228C>T	gnomAD
rs751192948	p.Gly102Asp	missense variant	-	NC_000001.11:g.54653231G>A	ExAC
rs1203003121	p.Gly102Ser	missense variant	-	NC_000001.11:g.54653230G>A	gnomAD
rs370342214	p.Asp106Tyr	missense variant	-	NC_000001.11:g.54653242G>T	ESP,ExAC,TOPMed,gnomAD
rs370342214	p.Asp106Asn	missense variant	-	NC_000001.11:g.54653242G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp108Glu	missense variant	-	NC_000001.11:g.54653250T>A	NCI-TCGA
rs749990498	p.Lys110Arg	missense variant	-	NC_000001.11:g.54653255A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp111Ala	missense variant	-	NC_000001.11:g.54653258A>C	NCI-TCGA
rs756094958	p.Asp111Glu	missense variant	-	NC_000001.11:g.54653259T>G	ExAC,gnomAD
rs779805295	p.Val112Asp	missense variant	-	NC_000001.11:g.54653261T>A	ExAC,TOPMed,gnomAD
rs779805295	p.Val112Ala	missense variant	-	NC_000001.11:g.54653261T>C	ExAC,TOPMed,gnomAD
rs1055091560	p.Val112Ile	missense variant	-	NC_000001.11:g.54653260G>A	TOPMed,gnomAD
rs1403519826	p.Pro115Ser	missense variant	-	NC_000001.11:g.54653269C>T	TOPMed
COSM1296591	p.Asp116Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653272G>A	NCI-TCGA Cosmic
rs754661318	p.Gly119Glu	missense variant	-	NC_000001.11:g.54653282G>A	ExAC,TOPMed,gnomAD
rs754661318	p.Gly119Ala	missense variant	-	NC_000001.11:g.54653282G>C	ExAC,TOPMed,gnomAD
rs373089784	p.Arg120Cys	missense variant	-	NC_000001.11:g.54653284C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373089784	p.Arg120Ser	missense variant	-	NC_000001.11:g.54653284C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs531104510	p.Arg120Leu	missense variant	-	NC_000001.11:g.54653285G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs531104510	p.Arg120His	missense variant	-	NC_000001.11:g.54653285G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1366990908	p.Leu121Pro	missense variant	-	NC_000001.11:g.54653288T>C	gnomAD
rs1435362199	p.Cys122Arg	missense variant	-	NC_000001.11:g.54653290T>C	gnomAD
rs1298858065	p.Cys122Ser	missense variant	-	NC_000001.11:g.54653291G>C	TOPMed,gnomAD
rs184477025	p.Pro123Leu	missense variant	-	NC_000001.11:g.54653294C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs771067754	p.Ala124Gly	missense variant	-	NC_000001.11:g.54653297C>G	ExAC,gnomAD
rs201689263	p.Ile128Thr	missense variant	-	NC_000001.11:g.54653309T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1053493689	p.Pro131Ser	missense variant	-	NC_000001.11:g.54653317C>T	gnomAD
rs769997976	p.Ser133Pro	missense variant	-	NC_000001.11:g.54653323T>C	ExAC,TOPMed
rs776059628	p.Glu135Lys	missense variant	-	NC_000001.11:g.54653329G>A	ExAC,gnomAD
rs530118000	p.Ala136Val	missense variant	-	NC_000001.11:g.54653333C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs530118000	p.Ala136Asp	missense variant	-	NC_000001.11:g.54653333C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs370379031	p.Arg138Cys	missense variant	-	NC_000001.11:g.54653338C>T	ESP,ExAC,TOPMed,gnomAD
rs750119628	p.Arg138His	missense variant	-	NC_000001.11:g.54653339G>A	ExAC,TOPMed,gnomAD
rs370379031	p.Arg138Gly	missense variant	-	NC_000001.11:g.54653338C>G	ESP,ExAC,TOPMed,gnomAD
COSM3490887	p.Gly142Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653350G>A	NCI-TCGA Cosmic
rs1183530984	p.Pro145Ser	missense variant	-	NC_000001.11:g.54653359C>T	TOPMed,gnomAD
rs760060392	p.Gln146Arg	missense variant	-	NC_000001.11:g.54653363A>G	ExAC,gnomAD
rs765916521	p.Ser147Ter	stop gained	-	NC_000001.11:g.54653366C>A	ExAC,gnomAD
rs1364592447	p.Asn148Asp	missense variant	-	NC_000001.11:g.54653368A>G	TOPMed
rs1162170909	p.Ser149Cys	missense variant	-	NC_000001.11:g.54653372C>G	gnomAD
rs1457492950	p.Glu150Gly	missense variant	-	NC_000001.11:g.54653375A>G	gnomAD
rs1011622435	p.Ala152Thr	missense variant	-	NC_000001.11:g.54653380G>A	TOPMed,gnomAD
rs778567344	p.Ala152Val	missense variant	-	NC_000001.11:g.54653381C>T	ExAC,gnomAD
rs778567344	p.Ala152Gly	missense variant	-	NC_000001.11:g.54653381C>G	ExAC,gnomAD
rs1011622435	p.Ala152Ser	missense variant	-	NC_000001.11:g.54653380G>T	TOPMed,gnomAD
rs368503437	p.Phe153Leu	missense variant	-	NC_000001.11:g.54653385C>A	ESP,TOPMed,gnomAD
rs752529386	p.Lys154Gln	missense variant	-	NC_000001.11:g.54653386A>C	ExAC,gnomAD
rs758597398	p.Cys155Ser	missense variant	-	NC_000001.11:g.54653389T>A	ExAC,gnomAD
rs1331262608	p.Ser157Leu	missense variant	-	NC_000001.11:g.54653396C>T	gnomAD
rs777924560	p.Ser158Gly	missense variant	-	NC_000001.11:g.54653398A>G	ExAC,gnomAD
rs747264454	p.Lys159Asn	missense variant	-	NC_000001.11:g.54653403G>C	ExAC,gnomAD
rs1023048326	p.Lys162Gln	missense variant	-	NC_000001.11:g.54653410A>C	TOPMed
rs970158617	p.Lys162Arg	missense variant	-	NC_000001.11:g.54653411A>G	gnomAD
NCI-TCGA novel	p.Leu163PhePheSerTerUnkUnk	frameshift	-	NC_000001.11:g.54653412_54653413insT	NCI-TCGA
rs1212046975	p.Gly164Val	missense variant	-	NC_000001.11:g.54653417G>T	gnomAD
rs1212046975	p.Gly164Asp	missense variant	-	NC_000001.11:g.54653417G>A	gnomAD
rs757219968	p.His173Tyr	missense variant	-	NC_000001.11:g.54653443C>T	ExAC,gnomAD
rs1472451801	p.His173Arg	missense variant	-	NC_000001.11:g.54653444A>G	TOPMed,gnomAD
rs1207618668	p.Asn176Ile	missense variant	-	NC_000001.11:g.54653453A>T	gnomAD
rs1411862161	p.Phe178Leu	missense variant	-	NC_000001.11:g.54653458T>C	TOPMed
rs781348564	p.Ile179Val	missense variant	-	NC_000001.11:g.54653461A>G	ExAC,TOPMed,gnomAD
rs781348564	p.Ile179Leu	missense variant	-	NC_000001.11:g.54653461A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg180Thr	missense variant	-	NC_000001.11:g.54653465G>C	NCI-TCGA
rs1472592380	p.Arg180Lys	missense variant	-	NC_000001.11:g.54653465G>A	gnomAD
rs746351821	p.His181Tyr	missense variant	-	NC_000001.11:g.54653467C>T	ExAC,gnomAD
rs566978822	p.His182Tyr	missense variant	-	NC_000001.11:g.54653470C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs11206407	p.His182Arg	missense variant	-	NC_000001.11:g.54653471A>G	UniProt,dbSNP
VAR_032218	p.His182Arg	missense variant	-	NC_000001.11:g.54653471A>G	UniProt
rs11206407	p.His182Arg	missense variant	-	NC_000001.11:g.54653471A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs566978822	p.His182Asn	missense variant	-	NC_000001.11:g.54653470C>A	1000Genomes,ExAC,TOPMed,gnomAD
VAR_035495	p.Ser183Tyr	Missense	-	-	UniProt
rs749616801	p.Glu185Asp	missense variant	-	NC_000001.11:g.54653481A>C	ExAC,gnomAD
rs1336600740	p.Glu185Lys	missense variant	-	NC_000001.11:g.54653479G>A	gnomAD
rs551587041	p.Gly186Asp	missense variant	-	NC_000001.11:g.54653483G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs551587041	p.Gly186Val	missense variant	-	NC_000001.11:g.54653483G>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM6063675	p.Gly190Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653494G>T	NCI-TCGA Cosmic
rs1451846802	p.His191Arg	missense variant	-	NC_000001.11:g.54653498A>G	gnomAD
rs1461386578	p.Cys192Ser	missense variant	-	NC_000001.11:g.54653501G>C	TOPMed
rs189830889	p.Pro196Thr	missense variant	-	NC_000001.11:g.54653512C>A	1000Genomes
rs1287798057	p.Ser197Asn	missense variant	-	NC_000001.11:g.54653516G>A	gnomAD
COSM910898	p.Ala200Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653524G>T	NCI-TCGA Cosmic
rs759359574	p.Leu202Phe	missense variant	-	NC_000001.11:g.54653530C>T	ExAC,gnomAD
rs557223559	p.Ile203Phe	missense variant	-	NC_000001.11:g.54653533A>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM4903028	p.Pro204Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653536C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser206Leu	missense variant	-	NC_000001.11:g.54653543C>T	NCI-TCGA
rs1441587855	p.Asn207His	missense variant	-	NC_000001.11:g.54653545A>C	gnomAD
rs1308873626	p.Ser209Phe	missense variant	-	NC_000001.11:g.54653552C>T	TOPMed
rs752654128	p.Leu212Pro	missense variant	-	NC_000001.11:g.54653561T>C	ExAC,gnomAD
rs1180908192	p.Pro216Ser	missense variant	-	NC_000001.11:g.54653572C>T	gnomAD
rs1361524559	p.Leu217Trp	missense variant	-	NC_000001.11:g.54653576T>G	gnomAD
rs1172751421	p.Leu218Pro	missense variant	-	NC_000001.11:g.54653579T>C	gnomAD
rs763883117	p.Met220Ile	missense variant	-	NC_000001.11:g.54653586G>A	ExAC,gnomAD
rs757560960	p.Arg223Ile	missense variant	-	NC_000001.11:g.54653594G>T	ExAC,TOPMed,gnomAD
rs757560960	p.Arg223Lys	missense variant	-	NC_000001.11:g.54653594G>A	ExAC,TOPMed,gnomAD
rs781131796	p.Thr225Asn	missense variant	-	NC_000001.11:g.54653600C>A	ExAC,gnomAD
rs746004881	p.Ser226Pro	missense variant	-	NC_000001.11:g.54653602T>C	ExAC,gnomAD
rs759361319	p.Lys227Thr	missense variant	-	NC_000001.11:g.54653606A>C	ExAC,TOPMed,gnomAD
rs759361319	p.Lys227Arg	missense variant	-	NC_000001.11:g.54653606A>G	ExAC,TOPMed,gnomAD
rs1334037317	p.Asn229Asp	missense variant	-	NC_000001.11:g.54653611A>G	gnomAD
rs775510052	p.Asn231Ser	missense variant	-	NC_000001.11:g.54653618A>G	ExAC,TOPMed,gnomAD
rs752480808	p.Val232Ile	missense variant	-	NC_000001.11:g.54653620G>A	TOPMed,gnomAD
rs774912695	p.Ala233Asp	missense variant	-	NC_000001.11:g.54653624C>A	ExAC,TOPMed,gnomAD
rs1276503573	p.Ala233Ser	missense variant	-	NC_000001.11:g.54653623G>T	gnomAD
rs774912695	p.Ala233Val	missense variant	-	NC_000001.11:g.54653624C>T	ExAC,TOPMed,gnomAD
rs1042482500	p.Pro234Leu	missense variant	-	NC_000001.11:g.54653627C>T	TOPMed
COSM259765	p.Ser236Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653633C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.His237Tyr	missense variant	-	NC_000001.11:g.54653635C>T	NCI-TCGA
rs1409156990	p.His237Arg	missense variant	-	NC_000001.11:g.54653636A>G	TOPMed
rs1388022922	p.Gly238Arg	missense variant	-	NC_000001.11:g.54653638G>A	TOPMed
rs746636147	p.Thr239Ile	missense variant	-	NC_000001.11:g.54653642C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu240Ile	missense variant	-	NC_000001.11:g.54653644C>A	NCI-TCGA
rs775981890	p.Leu240Arg	missense variant	-	NC_000001.11:g.54653645T>G	ExAC,TOPMed,gnomAD
rs759039314	p.Pro242Ser	missense variant	-	NC_000001.11:g.54653650C>T	ExAC,gnomAD
rs935204366	p.Asp243Gly	missense variant	-	NC_000001.11:g.54653654A>G	gnomAD
rs935204366	p.Asp243Ala	missense variant	-	NC_000001.11:g.54653654A>C	gnomAD
rs1392384494	p.Asp243Glu	missense variant	-	NC_000001.11:g.54653655C>A	gnomAD
rs1481307616	p.Asn245Asp	missense variant	-	NC_000001.11:g.54653659A>G	TOPMed
rs186245353	p.Asn245Lys	missense variant	-	NC_000001.11:g.54653661T>A	1000Genomes
rs1233105795	p.Glu246Lys	missense variant	-	NC_000001.11:g.54653662G>A	TOPMed
rs1431005744	p.Thr247Ser	missense variant	-	NC_000001.11:g.54653666C>G	gnomAD
rs1203310441	p.Thr249Ile	missense variant	-	NC_000001.11:g.54653672C>T	TOPMed
rs762893974	p.His253Pro	missense variant	-	NC_000001.11:g.54653684A>C	ExAC,gnomAD
rs1324261088	p.Asn254Thr	missense variant	-	NC_000001.11:g.54653687A>C	gnomAD
rs1324261088	p.Asn254Ser	missense variant	-	NC_000001.11:g.54653687A>G	gnomAD
rs902566824	p.Ile255Val	missense variant	-	NC_000001.11:g.54653689A>G	TOPMed
rs1438980271	p.Glu257Lys	missense variant	-	NC_000001.11:g.54653695G>A	gnomAD
rs763866792	p.Ser258Tyr	missense variant	-	NC_000001.11:g.54653699C>A	ExAC,gnomAD
rs371335941	p.Val259Ala	missense variant	-	NC_000001.11:g.54653702T>C	ESP,ExAC,TOPMed,gnomAD
rs371335941	p.Val259Asp	missense variant	-	NC_000001.11:g.54653702T>A	ESP,ExAC,TOPMed,gnomAD
rs757394504	p.Ser260Ter	stop gained	-	NC_000001.11:g.54653705C>G	ExAC,gnomAD
rs767726192	p.Lys261Ile	missense variant	-	NC_000001.11:g.54653708A>T	ExAC,gnomAD
rs118026373	p.Gly262Glu	missense variant	-	NC_000001.11:g.54653711G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1357874499	p.Gly262Ter	stop gained	-	NC_000001.11:g.54653710G>T	TOPMed,gnomAD
rs374661840	p.Ala263Pro	missense variant	-	NC_000001.11:g.54653713G>C	ESP,ExAC,TOPMed,gnomAD
rs1040843153	p.Ala263Asp	missense variant	-	NC_000001.11:g.54653714C>A	TOPMed
rs1466910190	p.Ser265Ile	missense variant	-	NC_000001.11:g.54653720G>T	gnomAD
COSM910900	p.Thr267Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653725A>G	NCI-TCGA Cosmic
rs1190093452	p.Thr267Ile	missense variant	-	NC_000001.11:g.54653726C>T	gnomAD
rs754381660	p.Ser271Asn	missense variant	-	NC_000001.11:g.54653738G>A	ExAC,gnomAD
rs199971430	p.Ser271Gly	missense variant	-	NC_000001.11:g.54653737A>G	ESP,ExAC,TOPMed,gnomAD
COSM3865814	p.Glu274Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653746G>A	NCI-TCGA Cosmic
rs755608420	p.Thr275Ala	missense variant	-	NC_000001.11:g.54653749A>G	ExAC,gnomAD
rs779115128	p.Met276Val	missense variant	-	NC_000001.11:g.54653752A>G	ExAC
rs371849728	p.Met276Arg	missense variant	-	NC_000001.11:g.54653753T>G	ESP,TOPMed,gnomAD
rs1044440310	p.Asn277Ser	missense variant	-	NC_000001.11:g.54653756A>G	TOPMed
rs748594977	p.Val278Gly	missense variant	-	NC_000001.11:g.54653759T>G	ExAC,gnomAD
rs1393816486	p.Ala279Val	missense variant	-	NC_000001.11:g.54653762C>T	gnomAD
rs1049411858	p.Ser280Thr	missense variant	-	NC_000001.11:g.54653764T>A	TOPMed
rs780858526	p.Gly282Ser	missense variant	-	NC_000001.11:g.54653770G>A	ExAC,TOPMed,gnomAD
rs1389149027	p.Ser284Pro	missense variant	-	NC_000001.11:g.54653776T>C	gnomAD
rs745512395	p.Ser286Tyr	missense variant	-	NC_000001.11:g.54653783C>A	ExAC,gnomAD
rs12094920	p.Val290Met	missense variant	-	NC_000001.11:g.54653794G>A	UniProt,dbSNP
VAR_032219	p.Val290Met	missense variant	-	NC_000001.11:g.54653794G>A	UniProt
rs12094920	p.Val290Met	missense variant	-	NC_000001.11:g.54653794G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1481851764	p.Thr291Ala	missense variant	-	NC_000001.11:g.54653797A>G	TOPMed
rs1004127482	p.Gln294Glu	missense variant	-	NC_000001.11:g.54653806C>G	TOPMed
NCI-TCGA novel	p.Ala295Val	missense variant	-	NC_000001.11:g.54653810C>T	NCI-TCGA
rs1283149934	p.Ala295Thr	missense variant	-	NC_000001.11:g.54653809G>A	TOPMed,gnomAD
rs768623864	p.Ser296Leu	missense variant	-	NC_000001.11:g.54653813C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr297His	missense variant	-	NC_000001.11:g.54653815T>C	NCI-TCGA
rs761625169	p.Val298Met	missense variant	-	NC_000001.11:g.54653818G>A	ExAC,gnomAD
rs369752978	p.Leu300Gln	missense variant	-	NC_000001.11:g.54653825T>A	ESP,ExAC,TOPMed,gnomAD
rs750597464	p.Pro302Leu	missense variant	-	NC_000001.11:g.54653831C>T	ExAC,TOPMed,gnomAD
rs750597464	p.Pro302Arg	missense variant	-	NC_000001.11:g.54653831C>G	ExAC,TOPMed,gnomAD
rs761033550	p.Gly303Cys	missense variant	-	NC_000001.11:g.54653833G>T	ExAC,gnomAD
rs766561728	p.Ser304Pro	missense variant	-	NC_000001.11:g.54653836T>C	ExAC,TOPMed,gnomAD
rs1347648096	p.Ser305Gly	missense variant	-	NC_000001.11:g.54653839A>G	TOPMed
rs1347648096	p.Ser305Cys	missense variant	-	NC_000001.11:g.54653839A>T	TOPMed
rs753176266	p.Tyr306Cys	missense variant	-	NC_000001.11:g.54653843A>G	ExAC,TOPMed,gnomAD
rs1655519	p.Tyr306Asp	missense variant	-	NC_000001.11:g.54653842T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1655519	p.Tyr306Asn	missense variant	-	NC_000001.11:g.54653842T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs540601071	p.His311Tyr	missense variant	-	NC_000001.11:g.54653857C>T	1000Genomes,ExAC,gnomAD
rs1345313660	p.His311Arg	missense variant	-	NC_000001.11:g.54653858A>G	TOPMed
rs17399810	p.Ser312Phe	missense variant	-	NC_000001.11:g.54653861C>T	UniProt,dbSNP
VAR_032221	p.Ser312Phe	missense variant	-	NC_000001.11:g.54653861C>T	UniProt
rs17399810	p.Ser312Phe	missense variant	-	NC_000001.11:g.54653861C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs745509518	p.Thr314Ser	missense variant	-	NC_000001.11:g.54653866A>T	ExAC,TOPMed,gnomAD
rs1199609451	p.Thr314Ile	missense variant	-	NC_000001.11:g.54653867C>T	TOPMed
rs1265684904	p.His315Gln	missense variant	-	NC_000001.11:g.54653871T>A	TOPMed
rs1396547891	p.Glu316Lys	missense variant	-	NC_000001.11:g.54653872G>A	TOPMed,gnomAD
rs1655518	p.Glu316Gly	missense variant	-	NC_000001.11:g.54653873A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1655518	p.Glu316Val	missense variant	-	NC_000001.11:g.54653873A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138481816	p.Asn318Ile	missense variant	-	NC_000001.11:g.54653879A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138481816	p.Asn318Ser	missense variant	-	NC_000001.11:g.54653879A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs923723755	p.Asn318Lys	missense variant	-	NC_000001.11:g.54653880C>A	TOPMed,gnomAD
rs1316040809	p.Ile321Asn	missense variant	-	NC_000001.11:g.54653888T>A	TOPMed,gnomAD
rs1259351043	p.Ser322Phe	missense variant	-	NC_000001.11:g.54653891C>T	gnomAD
rs200138099	p.Pro323Gln	missense variant	-	NC_000001.11:g.54653894C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200138099	p.Pro323Leu	missense variant	-	NC_000001.11:g.54653894C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys326Arg	missense variant	-	NC_000001.11:g.54653902T>C	NCI-TCGA
rs1455190747	p.Cys326Ser	missense variant	-	NC_000001.11:g.54653903G>C	TOPMed
rs761666523	p.Met327Leu	missense variant	-	NC_000001.11:g.54653905A>C	ExAC,gnomAD
COSM3790140	p.Met327Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653907G>A	NCI-TCGA Cosmic
rs1184487509	p.Leu329Val	missense variant	-	NC_000001.11:g.54653911C>G	gnomAD
rs1407579955	p.Ile330Met	missense variant	-	NC_000001.11:g.54653916C>G	TOPMed
rs771885366	p.Gly332Asp	missense variant	-	NC_000001.11:g.54653921G>A	ExAC,gnomAD
rs1252620252	p.Gly332Arg	missense variant	-	NC_000001.11:g.54653920G>C	TOPMed,gnomAD
rs989341129	p.Ser333Ala	missense variant	-	NC_000001.11:g.54653923T>G	gnomAD
rs1157116119	p.Asn334Ser	missense variant	-	NC_000001.11:g.54653927A>G	gnomAD
rs772946079	p.Thr336Ser	missense variant	-	NC_000001.11:g.54653932A>T	ExAC,gnomAD
rs760947113	p.Thr336Ile	missense variant	-	NC_000001.11:g.54653933C>T	ExAC,TOPMed,gnomAD
rs1376323151	p.Leu337Arg	missense variant	-	NC_000001.11:g.54653936T>G	TOPMed
NCI-TCGA novel	p.Ser338Cys	missense variant	-	NC_000001.11:g.54653938A>T	NCI-TCGA
rs1411586321	p.Leu339Pro	missense variant	-	NC_000001.11:g.54653942T>C	gnomAD
rs374146862	p.Asp340Asn	missense variant	-	NC_000001.11:g.54653944G>A	ESP,ExAC,TOPMed,gnomAD
rs759648722	p.Asp340Ala	missense variant	-	NC_000001.11:g.54653945A>C	ExAC,gnomAD
rs1429444519	p.Ser342Asn	missense variant	-	NC_000001.11:g.54653951G>A	TOPMed
rs1261649977	p.Leu343Phe	missense variant	-	NC_000001.11:g.54653953C>T	TOPMed
COSM6126894	p.Phe345Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653961C>A	NCI-TCGA Cosmic
rs753191225	p.Phe345Tyr	missense variant	-	NC_000001.11:g.54653960T>A	ExAC,gnomAD
rs764518252	p.Asp347Asn	missense variant	-	NC_000001.11:g.54653965G>A	ExAC,gnomAD
rs755744764	p.Thr348Ile	missense variant	-	NC_000001.11:g.54653969C>T	ExAC,gnomAD
rs755744764	p.Thr348Asn	missense variant	-	NC_000001.11:g.54653969C>A	ExAC,gnomAD
rs751964538	p.Thr348Ala	missense variant	-	NC_000001.11:g.54653968A>G	ExAC,TOPMed,gnomAD
rs12074499	p.Thr352Met	missense variant	-	NC_000001.11:g.54653981C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs12074499	p.Thr352Met	missense variant	-	NC_000001.11:g.54653981C>T	UniProt,dbSNP
VAR_032223	p.Thr352Met	missense variant	-	NC_000001.11:g.54653981C>T	UniProt
rs1269670116	p.Thr352Ala	missense variant	-	NC_000001.11:g.54653980A>G	gnomAD
NCI-TCGA novel	p.Ser354Asn	missense variant	-	NC_000001.11:g.54653987G>A	NCI-TCGA
rs754450065	p.Ser354Ile	missense variant	-	NC_000001.11:g.54653987G>T	ExAC,TOPMed,gnomAD
rs778342437	p.Ser354Arg	missense variant	-	NC_000001.11:g.54653988C>A	ExAC,gnomAD
rs367822729	p.Ser355Arg	missense variant	-	NC_000001.11:g.54653989A>C	ESP,ExAC,TOPMed,gnomAD
rs1353447885	p.Gln356His	missense variant	-	NC_000001.11:g.54653994G>T	gnomAD
rs371225882	p.Gln357His	missense variant	-	NC_000001.11:g.54653997G>C	ExAC,gnomAD
COSM3490902	p.Asp358Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653998G>A	NCI-TCGA Cosmic
rs1294751097	p.Asp358Tyr	missense variant	-	NC_000001.11:g.54653998G>T	gnomAD
rs773117743	p.Asp359Gly	missense variant	-	NC_000001.11:g.54654002A>G	ExAC,gnomAD
COSM4930692	p.Lys361Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.54654007A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp362Asn	missense variant	-	NC_000001.11:g.54654010G>A	NCI-TCGA
rs959513335	p.Asn363Ser	missense variant	-	NC_000001.11:g.54654014A>G	TOPMed
rs1231258852	p.Ile365Met	missense variant	-	NC_000001.11:g.54654021C>G	gnomAD
rs202100410	p.Ile365Thr	missense variant	-	NC_000001.11:g.54654020T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs367906695	p.His366Tyr	missense variant	-	NC_000001.11:g.54654022C>T	ESP,ExAC,TOPMed,gnomAD
rs1307012265	p.Thr367Ala	missense variant	-	NC_000001.11:g.54654025A>G	gnomAD
rs1399655591	p.Val368Met	missense variant	-	NC_000001.11:g.54654028G>A	TOPMed
rs189525766	p.Val368Ala	missense variant	-	NC_000001.11:g.54654029T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775501526	p.Pro369Ser	missense variant	-	NC_000001.11:g.54654031C>T	ExAC,gnomAD
rs1028575265	p.Asn373Lys	missense variant	-	NC_000001.11:g.54654045T>A	TOPMed
rs752071197	p.Ser378Thr	missense variant	-	NC_000001.11:g.54654059G>C	ExAC,gnomAD
rs1189169195	p.Met380Val	missense variant	-	NC_000001.11:g.54654064A>G	gnomAD
rs757582113	p.Ala381Ser	missense variant	-	NC_000001.11:g.54654067G>T	ExAC,gnomAD
rs757582113	p.Ala381Thr	missense variant	-	NC_000001.11:g.54654067G>A	ExAC,gnomAD
rs376981288	p.Ser382Thr	missense variant	-	NC_000001.11:g.54654071G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys384Met	missense variant	-	NC_000001.11:g.54654077A>T	NCI-TCGA
rs1030736244	p.Val385Glu	missense variant	-	NC_000001.11:g.54654080T>A	TOPMed
rs1460605836	p.Gly386Ser	missense variant	-	NC_000001.11:g.54654082G>A	TOPMed,gnomAD
rs369544447	p.Gly386Asp	missense variant	-	NC_000001.11:g.54654083G>A	ESP,ExAC,TOPMed,gnomAD
rs372956550	p.Gln387His	missense variant	-	NC_000001.11:g.54654087G>T	ESP,ExAC,TOPMed,gnomAD
rs1392776293	p.Pro389Ala	missense variant	-	NC_000001.11:g.54654091C>G	gnomAD
rs747670420	p.Pro389Leu	missense variant	-	NC_000001.11:g.54654092C>T	ExAC,TOPMed,gnomAD
rs770800441	p.Pro393Ser	missense variant	-	NC_000001.11:g.54654103C>T	ExAC,gnomAD
rs776615355	p.Ile394Val	missense variant	-	NC_000001.11:g.54654106A>G	ExAC,gnomAD
rs201471334	p.Asn396Lys	missense variant	-	NC_000001.11:g.54654114C>A	ESP,ExAC,TOPMed,gnomAD
rs775623305	p.Pro397Ser	missense variant	-	NC_000001.11:g.54654115C>T	ExAC,gnomAD
rs775623305	p.Pro397Thr	missense variant	-	NC_000001.11:g.54654115C>A	ExAC,gnomAD
rs558242326	p.Ala398Thr	missense variant	-	NC_000001.11:g.54654118G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs558242326	p.Ala398Ser	missense variant	-	NC_000001.11:g.54654118G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs202239855	p.Asp401Glu	missense variant	-	NC_000001.11:g.54654129C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3490905	p.Asp401Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54654127G>A	NCI-TCGA Cosmic
rs1330546252	p.Ala402Val	missense variant	-	NC_000001.11:g.54654131C>T	TOPMed
rs759215528	p.Ala402Thr	missense variant	-	NC_000001.11:g.54654130G>A	ExAC,TOPMed,gnomAD
rs554894135	p.Val403Met	missense variant	-	NC_000001.11:g.54654133G>A	1000Genomes,ExAC,gnomAD
rs1457411188	p.Leu405Met	missense variant	-	NC_000001.11:g.54654139T>A	gnomAD
rs1319463889	p.Gly407Val	missense variant	-	NC_000001.11:g.54654146G>T	TOPMed,gnomAD
rs867240822	p.Pro409Leu	missense variant	-	NC_000001.11:g.54654152C>T	gnomAD
rs1356201456	p.Gly411Arg	missense variant	-	NC_000001.11:g.54654157G>A	gnomAD
rs1161473803	p.Gly411Glu	missense variant	-	NC_000001.11:g.54665167G>A	gnomAD
rs774157644	p.Ala412Gly	missense variant	-	NC_000001.11:g.54665170C>G	ExAC,TOPMed,gnomAD
rs1364195267	p.Ala412Thr	missense variant	-	NC_000001.11:g.54665169G>A	TOPMed,gnomAD
rs774157644	p.Ala412Asp	missense variant	-	NC_000001.11:g.54665170C>A	ExAC,TOPMed,gnomAD
rs774157644	p.Ala412Val	missense variant	-	NC_000001.11:g.54665170C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp414Glu	missense variant	-	NC_000001.11:g.54665177T>G	NCI-TCGA
rs761336036	p.Asp414Ala	missense variant	-	NC_000001.11:g.54665176A>C	ExAC,TOPMed,gnomAD
rs1377242859	p.Asp414Glu	missense variant	-	NC_000001.11:g.54665177T>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu415Lys	missense variant	-	NC_000001.11:g.54665178G>A	NCI-TCGA
rs767080704	p.Val416Leu	missense variant	-	NC_000001.11:g.54665181G>T	ExAC,gnomAD
rs750310367	p.Val416Gly	missense variant	-	NC_000001.11:g.54665182T>G	ExAC,TOPMed,gnomAD
rs1414970790	p.Thr417Ser	missense variant	-	NC_000001.11:g.54665185C>G	TOPMed
COSM910904	p.Cys419Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54665191G>A	NCI-TCGA Cosmic
rs1392807325	p.Cys419Arg	missense variant	-	NC_000001.11:g.54665190T>C	gnomAD
rs1238836372	p.Val421Glu	missense variant	-	NC_000001.11:g.54665197T>A	gnomAD
rs1334787260	p.Val421Met	missense variant	-	NC_000001.11:g.54665196G>A	gnomAD
rs756120239	p.Glu425Gly	missense variant	-	NC_000001.11:g.54665209A>G	ExAC,gnomAD
rs1212154185	p.Lys426Arg	missense variant	-	NC_000001.11:g.54665212A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Glu428Gln	missense variant	-	NC_000001.11:g.54665217G>C	NCI-TCGA
rs377527312	p.Gly429Cys	missense variant	-	NC_000001.11:g.54665220G>T	TOPMed,gnomAD
rs753726663	p.Gly429Val	missense variant	-	NC_000001.11:g.54665221G>T	ExAC,TOPMed,gnomAD
rs377527312	p.Gly429Ser	missense variant	-	NC_000001.11:g.54665220G>A	TOPMed,gnomAD
rs754783332	p.Gly430Cys	missense variant	-	NC_000001.11:g.54665223G>T	ExAC,gnomAD
rs981255541	p.Asn431Lys	missense variant	-	NC_000001.11:g.54665228C>A	TOPMed,gnomAD
rs779042812	p.Asn432Ser	missense variant	-	NC_000001.11:g.54665230A>G	ExAC,gnomAD
rs748401514	p.Met433Val	missense variant	-	NC_000001.11:g.54665232A>G	ExAC,gnomAD
rs1420064529	p.Ala434Asp	missense variant	-	NC_000001.11:g.54665236C>A	TOPMed
rs758424599	p.Leu435Pro	missense variant	-	NC_000001.11:g.54665239T>C	ExAC,TOPMed,gnomAD
rs1296394701	p.Glu437Lys	missense variant	-	NC_000001.11:g.54668857G>A	gnomAD
rs74071881	p.Val439Phe	missense variant	-	NC_000001.11:g.54668863G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770230580	p.Thr440Ile	missense variant	-	NC_000001.11:g.54668867C>T	ExAC,TOPMed,gnomAD
rs368345950	p.Thr440Ala	missense variant	-	NC_000001.11:g.54668866A>G	ESP
rs372333293	p.Gln443His	missense variant	-	NC_000001.11:g.54668877G>T	ESP,ExAC,TOPMed,gnomAD
rs747802963	p.Ser445Asn	missense variant	-	NC_000001.11:g.54668882G>A	ExAC,gnomAD
rs747802963	p.Ser445Asn	missense variant	-	NC_000001.11:g.54668882G>A	NCI-TCGA,NCI-TCGA Cosmic
rs200925719	p.Gln446His	missense variant	-	NC_000001.11:g.54668886G>C	ExAC,TOPMed,gnomAD
rs771817980	p.Gln446Glu	missense variant	-	NC_000001.11:g.54668884C>G	ExAC,TOPMed,gnomAD
rs771817980	p.Gln446Lys	missense variant	-	NC_000001.11:g.54668884C>A	ExAC,TOPMed,gnomAD
rs1418207026	p.Asp447His	missense variant	-	NC_000001.11:g.54668887G>C	gnomAD
rs1418207026	p.Asp447Asn	missense variant	-	NC_000001.11:g.54668887G>A	gnomAD
rs1319936381	p.Leu448Gln	missense variant	-	NC_000001.11:g.54668891T>A	TOPMed,gnomAD
rs1418171119	p.Gly453Arg	missense variant	-	NC_000001.11:g.54668905G>A	gnomAD
rs1460590033	p.Glu454Gln	missense variant	-	NC_000001.11:g.54668908G>C	gnomAD
rs2304314	p.Lys455Arg	missense variant	-	NC_000001.11:g.54668912A>G	UniProt,dbSNP
VAR_055042	p.Lys455Arg	missense variant	-	NC_000001.11:g.54668912A>G	UniProt
rs2304314	p.Lys455Arg	missense variant	-	NC_000001.11:g.54668912A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr457Ile	missense variant	-	NC_000001.11:g.54668918C>T	NCI-TCGA
rs1433504949	p.Met458Thr	missense variant	-	NC_000001.11:g.54668921T>C	gnomAD
rs759519399	p.Lys461Asn	missense variant	-	NC_000001.11:g.54668931G>T	ExAC,TOPMed,gnomAD
rs913645500	p.Lys461Glu	missense variant	-	NC_000001.11:g.54668929A>G	TOPMed
rs776502888	p.Lys461Arg	missense variant	-	NC_000001.11:g.54668930A>G	ExAC,TOPMed,gnomAD
rs752555664	p.Met463Arg	missense variant	-	NC_000001.11:g.54668936T>G	ExAC,TOPMed,gnomAD
rs752555664	p.Met463Thr	missense variant	-	NC_000001.11:g.54668936T>C	ExAC,TOPMed,gnomAD
rs1377660492	p.Arg464Gly	missense variant	-	NC_000001.11:g.54670497A>G	TOPMed
rs755323424	p.Gln465Leu	missense variant	-	NC_000001.11:g.54670501A>T	ExAC,gnomAD
rs779195178	p.Ile466Thr	missense variant	-	NC_000001.11:g.54670504T>C	ExAC,gnomAD
rs779195178	p.Ile466Ser	missense variant	-	NC_000001.11:g.54670504T>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln467Leu	missense variant	-	NC_000001.11:g.54670507A>T	NCI-TCGA
rs370819683	p.Gln467Ter	stop gained	-	NC_000001.11:g.54670506C>T	ExAC,TOPMed,gnomAD
rs1370027807	p.Glu468Asp	missense variant	-	NC_000001.11:g.54670511G>T	TOPMed
rs550028680	p.Glu468Gly	missense variant	-	NC_000001.11:g.54670510A>G	1000Genomes,gnomAD
rs756969052	p.Glu469Lys	missense variant	-	NC_000001.11:g.54670512G>A	ExAC,gnomAD
rs139403235	p.Pro470Ser	missense variant	-	NC_000001.11:g.54670515C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1459653691	p.Asp472His	missense variant	-	NC_000001.11:g.54670521G>C	TOPMed
rs990554801	p.Asp472Glu	missense variant	-	NC_000001.11:g.54670523T>A	TOPMed
NCI-TCGA novel	p.Ser473Tyr	missense variant	-	NC_000001.11:g.54670525C>A	NCI-TCGA
rs1198299613	p.Ser475Leu	missense variant	-	NC_000001.11:g.54670531C>T	gnomAD
rs1274484494	p.Ser477Cys	missense variant	-	NC_000001.11:g.54670537C>G	TOPMed,gnomAD
rs775363362	p.Val478Phe	missense variant	-	NC_000001.11:g.54670539G>T	ExAC,TOPMed,gnomAD
rs775363362	p.Val478Ile	missense variant	-	NC_000001.11:g.54670539G>A	ExAC,TOPMed,gnomAD
rs1195871386	p.Arg479His	missense variant	-	NC_000001.11:g.54670543G>A	TOPMed,gnomAD
rs1195871386	p.Arg479Leu	missense variant	-	NC_000001.11:g.54670543G>T	TOPMed,gnomAD
rs774050707	p.Arg479Cys	missense variant	-	NC_000001.11:g.54670542C>T	ExAC,TOPMed,gnomAD
rs1477984865	p.Met483Val	missense variant	-	NC_000001.11:g.54670554A>G	gnomAD
rs1265622187	p.Glu484Asp	missense variant	-	NC_000001.11:g.54670559G>C	TOPMed
rs762085154	p.Ile485Thr	missense variant	-	NC_000001.11:g.54670561T>C	ExAC,gnomAD
rs1410750286	p.Leu489Pro	missense variant	-	NC_000001.11:g.54670573T>C	gnomAD
rs766535483	p.Thr492Ala	missense variant	-	NC_000001.11:g.54670804A>G	ExAC,TOPMed,gnomAD
rs766535483	p.Thr492Ser	missense variant	-	NC_000001.11:g.54670804A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln493His	missense variant	-	NC_000001.11:g.54670809G>C	NCI-TCGA
rs1233453260	p.Pro494Leu	missense variant	-	NC_000001.11:g.54670811C>T	gnomAD
rs760073833	p.Thr495Ile	missense variant	-	NC_000001.11:g.54670814C>T	ExAC,gnomAD
rs765605278	p.Met498Lys	missense variant	-	NC_000001.11:g.54670823T>A	ExAC,gnomAD
rs202182199	p.Arg499Trp	missense variant	-	NC_000001.11:g.54670825C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs202182199	p.Arg499Trp	missense variant	-	NC_000001.11:g.54670825C>T	NCI-TCGA
rs559657355	p.Arg499Gln	missense variant	-	NC_000001.11:g.54670826G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs532777653	p.Arg501Lys	missense variant	-	NC_000001.11:g.54670832G>A	ExAC,TOPMed,gnomAD
rs750052987	p.Ser502Leu	missense variant	-	NC_000001.11:g.54670835C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu503Ter	missense variant	-	NC_000001.11:g.54670837G>T	NCI-TCGA
COSM3490908	p.Glu503Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54670837G>A	NCI-TCGA Cosmic
rs754525302	p.Val507Met	missense variant	-	NC_000001.11:g.54670849G>A	NCI-TCGA
rs754525302	p.Val507Met	missense variant	-	NC_000001.11:g.54670849G>A	ExAC,TOPMed,gnomAD
rs778677903	p.Val507Ala	missense variant	-	NC_000001.11:g.54670850T>C	ExAC,gnomAD
rs566542688	p.Cys508Tyr	missense variant	-	NC_000001.11:g.54670853G>A	TOPMed
rs480963	p.Val509Gly	missense variant	-	NC_000001.11:g.54670856T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs480963	p.Val509Ala	missense variant	-	NC_000001.11:g.54670856T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs480963	p.Val509Ala	missense variant	-	NC_000001.11:g.54670856T>C	UniProt,dbSNP
VAR_055043	p.Val509Ala	missense variant	-	NC_000001.11:g.54670856T>C	UniProt
rs747231083	p.His510Gln	missense variant	-	NC_000001.11:g.54670860C>G	ExAC,gnomAD
rs777753698	p.His510Pro	missense variant	-	NC_000001.11:g.54670859A>C	ExAC,TOPMed,gnomAD
rs1268222335	p.Ser511Gly	missense variant	-	NC_000001.11:g.54670861A>G	TOPMed
rs113626408	p.Val512Leu	missense variant	-	NC_000001.11:g.54670864G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs113626408	p.Val512Met	missense variant	-	NC_000001.11:g.54670864G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769945949	p.Pro516Thr	missense variant	-	NC_000001.11:g.54670876C>A	ExAC,TOPMed,gnomAD
rs1243118996	p.Pro516Leu	missense variant	-	NC_000001.11:g.54670877C>T	TOPMed,gnomAD
rs775808083	p.Ser517Ala	missense variant	-	NC_000001.11:g.54670879T>G	ExAC,gnomAD
rs1352054394	p.Ser517Phe	missense variant	-	NC_000001.11:g.54670880C>T	gnomAD
rs376972881	p.Val518Leu	missense variant	-	NC_000001.11:g.54670882G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376972881	p.Val518Met	missense variant	-	NC_000001.11:g.54670882G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1416883368	p.Val518Ala	missense variant	-	NC_000001.11:g.54670883T>C	TOPMed
rs1486667085	p.Gln519Ter	stop gained	-	NC_000001.11:g.54670885C>T	gnomAD
rs199550913	p.Gln519Arg	missense variant	-	NC_000001.11:g.54670886A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753562291	p.Ala520Val	missense variant	-	NC_000001.11:g.54670889C>T	ExAC,TOPMed,gnomAD
rs373405988	p.Ala520Thr	missense variant	-	NC_000001.11:g.54670888G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1439007664	p.Met521Ile	missense variant	-	NC_000001.11:g.54670893G>T	gnomAD
rs1156720085	p.Gln522Ter	stop gained	-	NC_000001.11:g.54670894C>T	gnomAD
rs977510566	p.Glu523Gln	missense variant	-	NC_000001.11:g.54670897G>C	TOPMed
rs778535173	p.Lys524Asn	missense variant	-	NC_000001.11:g.54670902G>T	ExAC,TOPMed,gnomAD
rs777698751	p.Glu526Lys	missense variant	-	NC_000001.11:g.54670906G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala527Ser	missense variant	-	NC_000001.11:g.54670909G>T	NCI-TCGA
rs772581552	p.Ala527Val	missense variant	-	NC_000001.11:g.54670910C>T	ExAC,TOPMed,gnomAD
rs772581552	p.Ala527Gly	missense variant	-	NC_000001.11:g.54670910C>G	ExAC,TOPMed,gnomAD
rs1309612729	p.Lys528Ter	stop gained	-	NC_000001.11:g.54670912A>T	gnomAD
rs770763162	p.Lys528Thr	missense variant	-	NC_000001.11:g.54670913A>C	ExAC,gnomAD
COSM1343522	p.Lys528Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54670912A>G	NCI-TCGA Cosmic
rs1307779169	p.Thr531Ile	missense variant	-	NC_000001.11:g.54670922C>T	gnomAD
rs746123780	p.Gln533Lys	missense variant	-	NC_000001.11:g.54670927C>A	ExAC,gnomAD
rs1255477921	p.Gln533Pro	missense variant	-	NC_000001.11:g.54670928A>C	TOPMed,gnomAD
rs746123780	p.Gln533Ter	stop gained	-	NC_000001.11:g.54670927C>T	ExAC,gnomAD
rs762511023	p.Ala534Val	missense variant	-	NC_000001.11:g.54673092C>T	ExAC,gnomAD
COSM6126888	p.Gln538Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54673103C>G	NCI-TCGA Cosmic
rs751520019	p.Leu540Val	missense variant	-	NC_000001.11:g.54673109C>G	ExAC,gnomAD
COSM243334	p.Glu541Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54673112G>A	NCI-TCGA Cosmic
rs757255939	p.Ala542Thr	missense variant	-	NC_000001.11:g.54673115G>A	ExAC,gnomAD
rs992551433	p.Gln544His	missense variant	-	NC_000001.11:g.54673123G>C	TOPMed,gnomAD
rs1274849278	p.Leu547Pro	missense variant	-	NC_000001.11:g.54673131T>C	gnomAD
rs200088868	p.Ile552Asn	missense variant	-	NC_000001.11:g.54673146T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780213540	p.Ile552Phe	missense variant	-	NC_000001.11:g.54673145A>T	ExAC,TOPMed,gnomAD
rs368337420	p.Glu553Ter	stop gained	-	NC_000001.11:g.54673148G>T	ESP,TOPMed,gnomAD
rs368337420	p.Glu553Lys	missense variant	-	NC_000001.11:g.54673148G>A	ESP,TOPMed,gnomAD
rs1377367591	p.Asp554Gly	missense variant	-	NC_000001.11:g.54673152A>G	TOPMed,gnomAD
rs748600087	p.Asp554His	missense variant	-	NC_000001.11:g.54673151G>C	ExAC,gnomAD
rs1420498954	p.Pro555His	missense variant	-	NC_000001.11:g.54673155C>A	gnomAD
rs1311977133	p.Thr556Pro	missense variant	-	NC_000001.11:g.54673157A>C	TOPMed
rs375789961	p.Ala558Val	missense variant	-	NC_000001.11:g.54673164C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser562Cys	missense variant	-	NC_000001.11:g.54673175A>T	NCI-TCGA
rs202175562	p.Ser562Thr	missense variant	-	NC_000001.11:g.54673176G>C	1000Genomes,ExAC,gnomAD
rs1455792231	p.Ile563Asn	missense variant	-	NC_000001.11:g.54673179T>A	gnomAD
rs1236116587	p.Leu567Val	missense variant	-	NC_000001.11:g.54673704C>G	gnomAD
rs758413583	p.Gly568Arg	missense variant	-	NC_000001.11:g.54673707G>C	ExAC,gnomAD
rs1465018271	p.Pro569Ser	missense variant	-	NC_000001.11:g.54673710C>T	TOPMed
rs778301930	p.Met571Lys	missense variant	-	NC_000001.11:g.54673717T>A	ExAC,gnomAD
rs1380296549	p.Asn572Asp	missense variant	-	NC_000001.11:g.54673719A>G	gnomAD
rs747490465	p.Lys575Thr	missense variant	-	NC_000001.11:g.54673729A>C	ExAC,gnomAD
rs1425886246	p.Ala576Pro	missense variant	-	NC_000001.11:g.54673731G>C	gnomAD
rs986693932	p.His577Arg	missense variant	-	NC_000001.11:g.54673735A>G	TOPMed,gnomAD
rs986693932	p.His577Leu	missense variant	-	NC_000001.11:g.54673735A>T	TOPMed,gnomAD
rs376595601	p.Glu578Ter	stop gained	-	NC_000001.11:g.54673737G>T	ESP,ExAC,TOPMed,gnomAD
rs376595601	p.Glu578Lys	missense variant	-	NC_000001.11:g.54673737G>A	ESP,ExAC,TOPMed,gnomAD
rs200552161	p.Arg579Ter	stop gained	-	NC_000001.11:g.54673740C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs527661535	p.Arg579Gln	missense variant	-	NC_000001.11:g.54673741G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1442937582	p.Ala580Val	missense variant	-	NC_000001.11:g.54673744C>T	gnomAD
COSM910910	p.Ala580Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54673743G>A	NCI-TCGA Cosmic
rs773181857	p.Arg581Pro	missense variant	-	NC_000001.11:g.54673747G>C	ExAC,TOPMed,gnomAD
rs773181857	p.Arg581Gln	missense variant	-	NC_000001.11:g.54673747G>A	ExAC,TOPMed,gnomAD
rs771508636	p.Arg581Trp	missense variant	-	NC_000001.11:g.54673746C>T	ExAC,TOPMed,gnomAD
rs1194640904	p.Val583Ala	missense variant	-	NC_000001.11:g.54673753T>C	gnomAD
NCI-TCGA novel	p.Thr585Pro	missense variant	-	NC_000001.11:g.54673758A>C	NCI-TCGA
rs1237897588	p.Val587Leu	missense variant	-	NC_000001.11:g.54673764G>C	gnomAD
rs1456831233	p.Ser588Thr	missense variant	-	NC_000001.11:g.54673767T>A	TOPMed,gnomAD
rs1438362742	p.Ser588Phe	missense variant	-	NC_000001.11:g.54673768C>T	gnomAD
rs1456831233	p.Ser588Pro	missense variant	-	NC_000001.11:g.54673767T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Leu590Phe	missense variant	-	NC_000001.11:g.54673775G>C	NCI-TCGA
rs752896053	p.Asn591Ser	missense variant	-	NC_000001.11:g.54673777A>G	ExAC,gnomAD
rs765434846	p.Asn591Asp	missense variant	-	NC_000001.11:g.54673776A>G	ExAC,TOPMed,gnomAD
rs752896053	p.Asn591Ile	missense variant	-	NC_000001.11:g.54673777A>T	ExAC,gnomAD
rs758454696	p.His592Tyr	missense variant	-	NC_000001.11:g.54673779C>T	ExAC,gnomAD
rs1170859997	p.His592Arg	missense variant	-	NC_000001.11:g.54673780A>G	TOPMed,gnomAD
rs752075032	p.Met593Thr	missense variant	-	NC_000001.11:g.54673783T>C	ExAC
rs896630937	p.Leu594Phe	missense variant	-	NC_000001.11:g.54673785C>T	TOPMed,gnomAD
rs896630937	p.Leu594Ile	missense variant	-	NC_000001.11:g.54673785C>A	TOPMed,gnomAD
rs1399340034	p.Thr596Ile	missense variant	-	NC_000001.11:g.54673792C>T	TOPMed
rs138838053	p.Pro598Leu	missense variant	-	NC_000001.11:g.54673798C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1330419927	p.Phe599Leu	missense variant	-	NC_000001.11:g.54673802C>A	gnomAD
NCI-TCGA novel	p.Phe600Ile	missense variant	-	NC_000001.11:g.54673803T>A	NCI-TCGA
rs200190307	p.Met601Ile	missense variant	-	NC_000001.11:g.54674018G>T	ESP,ExAC,TOPMed,gnomAD
rs199630211	p.Met601Leu	missense variant	-	NC_000001.11:g.54674016A>C	1000Genomes
rs200190307	p.Met601Ile	missense variant	-	NC_000001.11:g.54674018G>A	ESP,ExAC,TOPMed,gnomAD
rs1024343403	p.Leu603Ser	missense variant	-	NC_000001.11:g.54674023T>C	TOPMed,gnomAD
rs745852999	p.Phe605Tyr	missense variant	-	NC_000001.11:g.54674029T>A	ExAC,gnomAD
rs775214622	p.Pro606Leu	missense variant	-	NC_000001.11:g.54674032C>T	ExAC,TOPMed,gnomAD
rs1471789196	p.Pro606Ser	missense variant	-	NC_000001.11:g.54674031C>T	gnomAD
rs370746724	p.Ala607Val	missense variant	-	NC_000001.11:g.54674035C>T	ESP,ExAC,TOPMed,gnomAD
COSM3490913	p.Gly609Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54674040G>A	NCI-TCGA Cosmic
rs556161978	p.Gly609Glu	missense variant	-	NC_000001.11:g.54674041G>A	gnomAD
rs1478288866	p.Arg614Lys	missense variant	-	NC_000001.11:g.54674056G>A	TOPMed
rs756649665	p.Leu615Phe	missense variant	-	NC_000001.11:g.54674058C>T	ExAC,TOPMed,gnomAD
rs756649665	p.Leu615Ile	missense variant	-	NC_000001.11:g.54674058C>A	ExAC,TOPMed,gnomAD
rs1196095761	p.Ile616Met	missense variant	-	NC_000001.11:g.54674063C>G	TOPMed
NCI-TCGA novel	p.His618Gln	missense variant	-	NC_000001.11:g.54674069C>A	NCI-TCGA
rs570218	p.His618Arg	missense variant	-	NC_000001.11:g.54674068A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs570218	p.His618Arg	missense variant	-	NC_000001.11:g.54674068A>G	UniProt,dbSNP
VAR_055044	p.His618Arg	missense variant	-	NC_000001.11:g.54674068A>G	UniProt
rs570218	p.His618Leu	missense variant	-	NC_000001.11:g.54674068A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766757461	p.His618Tyr	missense variant	-	NC_000001.11:g.54674067C>T	ExAC,TOPMed,gnomAD
rs755376344	p.Ile619Asn	missense variant	-	NC_000001.11:g.54674071T>A	ExAC,TOPMed,gnomAD
rs755376344	p.Ile619Thr	missense variant	-	NC_000001.11:g.54674071T>C	ExAC,TOPMed,gnomAD
rs777366408	p.Gly620Glu	missense variant	-	NC_000001.11:g.54674074G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp621Asn	missense variant	-	NC_000001.11:g.54674076G>A	NCI-TCGA
rs1484363127	p.Asp621Glu	missense variant	-	NC_000001.11:g.54674078T>A	gnomAD
rs1201212930	p.Pro622Ser	missense variant	-	NC_000001.11:g.54674079C>T	TOPMed,gnomAD
rs775705383	p.Asp623Val	missense variant	-	NC_000001.11:g.54674083A>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu624Lys	missense variant	-	NC_000001.11:g.54674085G>A	NCI-TCGA
rs756736011	p.Ile626Leu	missense variant	-	NC_000001.11:g.54674091A>C	ExAC,gnomAD
rs371322078	p.Ile626Thr	missense variant	-	NC_000001.11:g.54674092T>C	ESP,TOPMed
NCI-TCGA novel	p.Gly627Cys	missense variant	-	NC_000001.11:g.54674094G>T	NCI-TCGA
rs1180247034	p.Gly627Asp	missense variant	-	NC_000001.11:g.54674095G>A	gnomAD
rs1456849016	p.Gly627Arg	missense variant	-	NC_000001.11:g.54674094G>C	gnomAD
rs1238785893	p.Cys628Tyr	missense variant	-	NC_000001.11:g.54674098G>A	gnomAD
rs1401909756	p.Ala630Thr	missense variant	-	NC_000001.11:g.54674103G>A	TOPMed
rs780720038	p.Asp632Tyr	missense variant	-	NC_000001.11:g.54674109G>T	ExAC,gnomAD
COSM3790143	p.Asp632Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54674109G>A	NCI-TCGA Cosmic
rs367682357	p.Gly633Ser	missense variant	-	NC_000001.11:g.54674112G>A	ESP,ExAC,TOPMed,gnomAD
rs1418029604	p.Ile634Val	missense variant	-	NC_000001.11:g.54674115A>G	TOPMed
rs1466259701	p.Ile635Met	missense variant	-	NC_000001.11:g.54674120C>G	gnomAD
rs775506952	p.Tyr638Cys	missense variant	-	NC_000001.11:g.54674128A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ile640Met	missense variant	-	NC_000001.11:g.54674135T>G	NCI-TCGA
rs1399582214	p.Ile640Val	missense variant	-	NC_000001.11:g.54674133A>G	gnomAD
rs1343235149	p.Leu641Val	missense variant	-	NC_000001.11:g.54674136C>G	TOPMed
rs768524223	p.Glu642Asp	missense variant	-	NC_000001.11:g.54674141G>T	ExAC,gnomAD
rs1378310960	p.Leu643Ile	missense variant	-	NC_000001.11:g.54674142C>A	gnomAD
rs774374349	p.Lys645Arg	missense variant	-	NC_000001.11:g.54674149A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg646Leu	missense variant	-	NC_000001.11:g.54678742G>T	NCI-TCGA
rs555351574	p.Arg646Ter	stop gained	-	NC_000001.11:g.54674151C>T	ExAC,gnomAD
COSM3490922	p.Glu651Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54678756G>A	NCI-TCGA Cosmic
rs779661794	p.Glu651Gly	missense variant	-	NC_000001.11:g.54678757A>G	ExAC,gnomAD
rs753717399	p.Thr653Ile	missense variant	-	NC_000001.11:g.54678763C>T	ExAC,gnomAD
rs779011706	p.Asn654Lys	missense variant	-	NC_000001.11:g.54678767C>A	ExAC,gnomAD
NCI-TCGA novel	p.Lys656ArgPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.54678768A>-	NCI-TCGA
rs772024815	p.Lys656Asn	missense variant	-	NC_000001.11:g.54678773G>C	ExAC,TOPMed,gnomAD
rs777810091	p.Glu657Asp	missense variant	-	NC_000001.11:g.54678776G>C	ExAC,gnomAD
rs747306038	p.Leu658Arg	missense variant	-	NC_000001.11:g.54678778T>G	ExAC,gnomAD
rs763140643	p.Tyr659Cys	missense variant	-	NC_000001.11:g.54678781A>G	gnomAD
rs529793273	p.Ser661Gly	missense variant	-	NC_000001.11:g.54678786A>G	1000Genomes,ExAC,gnomAD
rs1335103228	p.Ser661Asn	missense variant	-	NC_000001.11:g.54678787G>A	TOPMed,gnomAD
rs1288988343	p.Ser661Arg	missense variant	-	NC_000001.11:g.54678788C>G	TOPMed,gnomAD
rs1288988343	p.Ser661Arg	missense variant	-	NC_000001.11:g.54678788C>A	TOPMed,gnomAD
rs776835788	p.Asn662Ser	missense variant	-	NC_000001.11:g.54678790A>G	ExAC,TOPMed,gnomAD
rs776835788	p.Asn662Thr	missense variant	-	NC_000001.11:g.54678790A>C	ExAC,TOPMed,gnomAD
rs75269200	p.Lys663Arg	missense variant	-	NC_000001.11:g.54678793A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201099211	p.His664Tyr	missense variant	-	NC_000001.11:g.54678795C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775976584	p.Phe665Leu	missense variant	-	NC_000001.11:g.54678800C>G	ExAC,TOPMed,gnomAD
COSM681729	p.Gly667Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54678804G>T	NCI-TCGA Cosmic
rs904774966	p.Gly667Glu	missense variant	-	NC_000001.11:g.54678805G>A	TOPMed
rs1183285150	p.Pro668Leu	missense variant	-	NC_000001.11:g.54678808C>T	TOPMed
rs764464094	p.Asn670Asp	missense variant	-	NC_000001.11:g.54678813A>G	ExAC,gnomAD
rs1055453406	p.Pro671Ser	missense variant	-	NC_000001.11:g.54678816C>T	TOPMed
rs1055453406	p.Pro671Thr	missense variant	-	NC_000001.11:g.54678816C>A	TOPMed
rs1164629965	p.Val672Leu	missense variant	-	NC_000001.11:g.54678819G>T	gnomAD
rs772715902	p.Ser673Asn	missense variant	-	NC_000001.11:g.54678823G>A	ExAC,gnomAD
rs760445567	p.Pro674Leu	missense variant	-	NC_000001.11:g.54678826C>T	ExAC,TOPMed,gnomAD
rs753332143	p.Cys675Tyr	missense variant	-	NC_000001.11:g.54678829G>A	ExAC
rs202143021	p.Gln676Arg	missense variant	-	NC_000001.11:g.54678832A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765231121	p.Arg680Trp	missense variant	-	NC_000001.11:g.54678843C>T	ExAC,TOPMed,gnomAD
rs752707727	p.Arg680Gln	missense variant	-	NC_000001.11:g.54678844G>A	ExAC,TOPMed,gnomAD
rs752707727	p.Arg680Pro	missense variant	-	NC_000001.11:g.54678844G>C	ExAC,TOPMed,gnomAD
rs368926450	p.Val681Met	missense variant	-	NC_000001.11:g.54678846G>A	ESP,TOPMed
rs186975837	p.Glu683Lys	missense variant	-	NC_000001.11:g.54678852G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1466093480	p.Gly686Arg	missense variant	-	NC_000001.11:g.54679269G>A	gnomAD
rs1333874193	p.Asp687Glu	missense variant	-	NC_000001.11:g.54679274C>A	gnomAD
NCI-TCGA novel	p.Leu689Met	missense variant	-	NC_000001.11:g.54679278C>A	NCI-TCGA
rs572167241	p.Gly690Arg	missense variant	-	NC_000001.11:g.54679281G>A	ExAC,TOPMed,gnomAD
rs769149773	p.Gly690Glu	missense variant	-	NC_000001.11:g.54679282G>A	ExAC,TOPMed,gnomAD
rs572167241	p.Gly690Arg	missense variant	-	NC_000001.11:g.54679281G>C	ExAC,TOPMed,gnomAD
rs758315810	p.Pro691Ser	missense variant	-	NC_000001.11:g.54679284C>T	ExAC,TOPMed,gnomAD
rs748505314	p.Gln693His	missense variant	-	NC_000001.11:g.54679292G>T	ExAC,gnomAD
rs1326603685	p.Ile694Val	missense variant	-	NC_000001.11:g.54679293A>G	TOPMed
rs1281798333	p.Ile694Lys	missense variant	-	NC_000001.11:g.54679294T>A	gnomAD
rs181242692	p.Ile694Met	missense variant	-	NC_000001.11:g.54679295A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1199632049	p.Lys695Asn	missense variant	-	NC_000001.11:g.54679298G>C	gnomAD
rs994787042	p.Asp696Gly	missense variant	-	NC_000001.11:g.54679300A>G	TOPMed,gnomAD
rs1223885896	p.Leu698Pro	missense variant	-	NC_000001.11:g.54679306T>C	gnomAD
rs1047074994	p.Ala700Asp	missense variant	-	NC_000001.11:g.54679312C>A	TOPMed
rs557365728	p.Ala701Val	missense variant	-	NC_000001.11:g.54679315C>T	ExAC,TOPMed,gnomAD
rs554316180	p.Ala701Ser	missense variant	-	NC_000001.11:g.54679314G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs554316180	p.Ala701Thr	missense variant	-	NC_000001.11:g.54679314G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1213709168	p.Leu702Pro	missense variant	-	NC_000001.11:g.54679318T>C	TOPMed
NCI-TCGA novel	p.Glu703Gln	missense variant	-	NC_000001.11:g.54679320G>C	NCI-TCGA
COSM3490925	p.Gly704Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54679324G>A	NCI-TCGA Cosmic
COSM4534693	p.Gly704Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54679323G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu705Met	missense variant	-	NC_000001.11:g.54679326C>A	NCI-TCGA
rs1167101290	p.Lys706Arg	missense variant	-	NC_000001.11:g.54679330A>G	TOPMed,gnomAD
rs1167101290	p.Lys706Ile	missense variant	-	NC_000001.11:g.54679330A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Pro712Ser	missense variant	-	NC_000001.11:g.54679347C>T	NCI-TCGA
rs764022496	p.Gly713Glu	missense variant	-	NC_000001.11:g.54679351G>A	ExAC,gnomAD
rs751478709	p.Ser716Phe	missense variant	-	NC_000001.11:g.54679360C>T	ExAC,TOPMed,gnomAD
rs751478709	p.Ser716Cys	missense variant	-	NC_000001.11:g.54679360C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu718Lys	missense variant	-	NC_000001.11:g.54679365G>A	NCI-TCGA
rs767264779	p.Met719Leu	missense variant	-	NC_000001.11:g.54679368A>C	ExAC,gnomAD
rs1402529777	p.Met720Val	missense variant	-	NC_000001.11:g.54679371A>G	gnomAD
rs201599846	p.Gln721Pro	missense variant	-	NC_000001.11:g.54679375A>C	ExAC,gnomAD
rs969916738	p.Ser724Pro	missense variant	-	NC_000001.11:g.54679383T>C	TOPMed
rs756393110	p.Ser724Leu	missense variant	-	NC_000001.11:g.54679384C>T	ExAC,TOPMed,gnomAD
rs1369931123	p.Glu725Lys	missense variant	-	NC_000001.11:g.54679386G>A	TOPMed
rs1338019280	p.Glu725Gly	missense variant	-	NC_000001.11:g.54679387A>G	gnomAD
rs1230482553	p.Leu728Phe	missense variant	-	NC_000001.11:g.54679395C>T	gnomAD
rs1490222173	p.Ser729Gly	missense variant	-	NC_000001.11:g.54679398A>G	gnomAD
rs202104458	p.Ser729Thr	missense variant	-	NC_000001.11:g.54679399G>C	ESP,ExAC,TOPMed,gnomAD
rs1265703772	p.Ser730Leu	missense variant	-	NC_000001.11:g.54679402C>T	gnomAD
rs1192220696	p.Val731Glu	missense variant	-	NC_000001.11:g.54679405T>A	gnomAD
rs748657269	p.Glu733Lys	missense variant	-	NC_000001.11:g.54679410G>A	ExAC,gnomAD
rs772455635	p.Trp734Ter	stop gained	-	NC_000001.11:g.54679415G>A	ExAC,TOPMed,gnomAD
rs1392365375	p.Trp734Gly	missense variant	-	NC_000001.11:g.54679413T>G	TOPMed
rs1163821234	p.Tyr735Cys	missense variant	-	NC_000001.11:g.54679417A>G	gnomAD
rs778351863	p.Tyr735Ter	stop gained	-	NC_000001.11:g.54679418C>G	ExAC,gnomAD
rs374825894	p.Arg736His	missense variant	-	NC_000001.11:g.54679420G>A	ESP,ExAC,TOPMed,gnomAD
rs967441341	p.Arg736Ser	missense variant	-	NC_000001.11:g.54679419C>A	TOPMed,gnomAD
COSM1320985	p.Arg736Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54679420G>T	NCI-TCGA Cosmic
rs967441341	p.Arg736Cys	missense variant	-	NC_000001.11:g.54679419C>T	TOPMed,gnomAD
rs769510476	p.His737Tyr	missense variant	-	NC_000001.11:g.54679422C>T	ExAC,gnomAD
rs1381233771	p.His737Pro	missense variant	-	NC_000001.11:g.54679423A>C	TOPMed,gnomAD
COSM3865817	p.Arg738Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54679426G>A	NCI-TCGA Cosmic
rs1325004231	p.Arg738Gly	missense variant	-	NC_000001.11:g.54679425A>G	gnomAD
rs367971995	p.Ala739Val	missense variant	-	NC_000001.11:g.54679429C>T	ESP,ExAC,TOPMed,gnomAD
rs774323354	p.Leu740Pro	missense variant	-	NC_000001.11:g.54679432T>C	ExAC,gnomAD
rs764652973	p.Met747Thr	missense variant	-	NC_000001.11:g.54679904T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly749Asp	missense variant	-	NC_000001.11:g.54679910G>A	NCI-TCGA
rs1397829869	p.Ile750Thr	missense variant	-	NC_000001.11:g.54679913T>C	gnomAD
rs1390950895	p.Met752Val	missense variant	-	NC_000001.11:g.54679918A>G	gnomAD
rs1304888855	p.Met752Ile	missense variant	-	NC_000001.11:g.54679920G>T	gnomAD
rs757670480	p.Ile757Met	missense variant	-	NC_000001.11:g.54679935C>G	ExAC,gnomAD
rs1282417864	p.Gln758Leu	missense variant	-	NC_000001.11:g.54679937A>T	gnomAD
rs1321213170	p.Glu759Asp	missense variant	-	NC_000001.11:g.54679941G>T	gnomAD
rs148550771	p.Arg761Pro	missense variant	-	NC_000001.11:g.54679946G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781718343	p.Arg761Trp	missense variant	-	NC_000001.11:g.54679945C>T	ExAC,TOPMed,gnomAD
rs148550771	p.Arg761Gln	missense variant	-	NC_000001.11:g.54679946G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201540608	p.Arg763His	missense variant	-	NC_000001.11:g.54679952G>A	ESP,ExAC,TOPMed,gnomAD
rs201540608	p.Arg763Leu	missense variant	-	NC_000001.11:g.54679952G>T	ESP,ExAC,TOPMed,gnomAD
rs778639426	p.Arg763Cys	missense variant	-	NC_000001.11:g.54679951C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln764His	missense variant	-	NC_000001.11:g.54679956G>T	NCI-TCGA
rs773112818	p.Gln764Ter	stop gained	-	NC_000001.11:g.54679954C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val765Met	missense variant	-	NC_000001.11:g.54679957G>A	NCI-TCGA
rs372822211	p.Val770Ile	missense variant	-	NC_000001.11:g.54679972G>A	ESP,ExAC,TOPMed,gnomAD
COSM6063671	p.Val770Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54679972G>T	NCI-TCGA Cosmic
rs759391730	p.Ser771Thr	missense variant	-	NC_000001.11:g.54679975T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu772SerPheSerTerUnk	frameshift	-	NC_000001.11:g.54679976C>-	NCI-TCGA
COSM681727	p.Ser776Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54679991C>T	NCI-TCGA Cosmic
rs763073015	p.Met778Val	missense variant	-	NC_000001.11:g.54679996A>G	ExAC,TOPMed,gnomAD
rs764315415	p.Thr779Ile	missense variant	-	NC_000001.11:g.54680000C>T	ExAC,gnomAD
rs370688091	p.Glu780Lys	missense variant	-	NC_000001.11:g.54680002G>A	ESP,ExAC,gnomAD
rs370688091	p.Glu780Gln	missense variant	-	NC_000001.11:g.54680002G>C	ESP,ExAC,gnomAD
rs756534894	p.Val782Met	missense variant	-	NC_000001.11:g.54680008G>A	ExAC,gnomAD
rs752396376	p.Met787Val	missense variant	-	NC_000001.11:g.54680023A>G	ExAC,gnomAD
rs757874181	p.Met787Ile	missense variant	-	NC_000001.11:g.54680025G>A	ExAC,gnomAD
rs777334011	p.Cys788Trp	missense variant	-	NC_000001.11:g.54680028C>G	ExAC,gnomAD
rs546413383	p.Pro789Ala	missense variant	-	NC_000001.11:g.54680029C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1196303555	p.Leu790Phe	missense variant	-	NC_000001.11:g.54680032C>T	gnomAD
rs373549113	p.Leu792Val	missense variant	-	NC_000001.11:g.54680038C>G	ESP,ExAC,gnomAD
rs1156324383	p.Asn793Lys	missense variant	-	NC_000001.11:g.54680043C>A	TOPMed,gnomAD
rs756820109	p.Asn795Ser	missense variant	-	NC_000001.11:g.54682658A>G	ExAC,gnomAD
COSM3490931	p.Gly796Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54682660G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Trp800Ser	missense variant	-	NC_000001.11:g.54682673G>C	NCI-TCGA
rs1005938377	p.Gln802Leu	missense variant	-	NC_000001.11:g.54682679A>T	TOPMed
rs745862413	p.Leu805Pro	missense variant	-	NC_000001.11:g.54682688T>C	ExAC,gnomAD
rs769440483	p.Lys807Glu	missense variant	-	NC_000001.11:g.54682693A>G	ExAC,gnomAD
rs749507381	p.Pro808Arg	missense variant	-	NC_000001.11:g.54682697C>G	ExAC,gnomAD
rs779964575	p.Pro808Thr	missense variant	-	NC_000001.11:g.54682696C>A	ExAC,TOPMed,gnomAD
COSM6063668	p.Cys810Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54682703G>C	NCI-TCGA Cosmic
COSM3490934	p.Cys810Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54682702T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp811Asn	missense variant	-	NC_000001.11:g.54682705G>A	NCI-TCGA
rs768939976	p.Asp811Val	missense variant	-	NC_000001.11:g.54682706A>T	ExAC,TOPMed,gnomAD
rs774718278	p.Arg813Gln	missense variant	-	NC_000001.11:g.54682712G>A	ExAC,TOPMed,gnomAD
rs1016470409	p.Arg813Ter	stop gained	-	NC_000001.11:g.54682711C>T	TOPMed,gnomAD
rs761936782	p.Leu815Arg	missense variant	-	NC_000001.11:g.54682718T>G	ExAC,TOPMed,gnomAD
rs772245121	p.Asp817Ala	missense variant	-	NC_000001.11:g.54682724A>C	ExAC,gnomAD
rs761312398	p.Ser822Arg	missense variant	-	NC_000001.11:g.54682740C>G	ExAC,gnomAD
rs1388886429	p.Lys824Met	missense variant	-	NC_000001.11:g.54682745A>T	TOPMed
COSM910922	p.Glu825Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54682749G>T	NCI-TCGA Cosmic
rs776927090	p.Lys826Asn	missense variant	-	NC_000001.11:g.54682752G>C	ExAC,TOPMed,gnomAD
rs367669775	p.Val828Ile	missense variant	-	NC_000001.11:g.54682756G>A	ESP,ExAC,TOPMed,gnomAD
rs1179644926	p.Lys830Asn	missense variant	-	NC_000001.11:g.54682764G>C	TOPMed
rs1407545543	p.Lys830Arg	missense variant	-	NC_000001.11:g.54682763A>G	TOPMed,gnomAD
rs200139547	p.Lys830Glu	missense variant	-	NC_000001.11:g.54682762A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu831Lys	missense variant	-	NC_000001.11:g.54682765G>A	NCI-TCGA
rs370806223	p.Arg833Gln	missense variant	-	NC_000001.11:g.54682772G>A	ESP,ExAC,TOPMed,gnomAD
rs750318969	p.Arg833Trp	missense variant	-	NC_000001.11:g.54682771C>T	ExAC,gnomAD
rs1406477426	p.Ala834Val	missense variant	-	NC_000001.11:g.54682775C>T	gnomAD
rs1334652008	p.Val837Met	missense variant	-	NC_000001.11:g.54682783G>A	TOPMed,gnomAD
rs368360289	p.Pro838Ser	missense variant	-	NC_000001.11:g.54682786C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368360289	p.Pro838Thr	missense variant	-	NC_000001.11:g.54682786C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1442381698	p.Pro838Leu	missense variant	-	NC_000001.11:g.54682787C>T	gnomAD
rs772042102	p.Ala840Val	missense variant	-	NC_000001.11:g.54682793C>T	ExAC,TOPMed,gnomAD
rs772042102	p.Ala840Glu	missense variant	-	NC_000001.11:g.54682793C>A	ExAC,TOPMed,gnomAD
rs747075101	p.Ser843Gly	missense variant	-	NC_000001.11:g.54686264A>G	ExAC,gnomAD
rs746410473	p.Gly844Val	missense variant	-	NC_000001.11:g.54686268G>T	ExAC,gnomAD
rs777096703	p.Gly844Ser	missense variant	-	NC_000001.11:g.54686267G>A	ExAC,TOPMed,gnomAD
rs1426081270	p.Leu845Pro	missense variant	-	NC_000001.11:g.54686271T>C	gnomAD
rs775977299	p.Glu847Gln	missense variant	-	NC_000001.11:g.54686276G>C	ExAC,TOPMed,gnomAD
rs775977299	p.Glu847Lys	missense variant	-	NC_000001.11:g.54686276G>A	ExAC,TOPMed,gnomAD
rs1392078555	p.Leu849Pro	missense variant	-	NC_000001.11:g.54686283T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Val851Gly	missense variant	-	NC_000001.11:g.54686289T>G	NCI-TCGA
rs201626732	p.Val851Ile	missense variant	-	NC_000001.11:g.54686288G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3865826	p.Ser853Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54686295G>A	NCI-TCGA Cosmic
rs772770905	p.Cys854Tyr	missense variant	-	NC_000001.11:g.54686298G>A	ExAC,TOPMed,gnomAD
rs201138513	p.Met855Thr	missense variant	-	NC_000001.11:g.54686301T>C	1000Genomes,gnomAD
rs760182086	p.Met855Ile	missense variant	-	NC_000001.11:g.54686302G>A	ExAC,TOPMed,gnomAD
rs368938972	p.Arg857His	missense variant	-	NC_000001.11:g.54686307G>A	ESP,ExAC,TOPMed,gnomAD
rs375083581	p.Arg857Gly	missense variant	-	NC_000001.11:g.54686306C>G	ESP,ExAC,TOPMed,gnomAD
rs368938972	p.Arg857Leu	missense variant	-	NC_000001.11:g.54686307G>T	ESP,ExAC,TOPMed,gnomAD
rs375083581	p.Arg857Cys	missense variant	-	NC_000001.11:g.54686306C>T	ESP,ExAC,TOPMed,gnomAD
rs759607443	p.Val858Leu	missense variant	-	NC_000001.11:g.54686309G>T	ExAC,gnomAD
rs1211381869	p.Val858Ala	missense variant	-	NC_000001.11:g.54686310T>C	TOPMed
rs76724096	p.Arg859Lys	missense variant	-	NC_000001.11:g.54686313G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374919113	p.Arg860His	missense variant	-	NC_000001.11:g.54686316G>A	ESP,ExAC,TOPMed,gnomAD
rs752473438	p.Arg860Cys	missense variant	-	NC_000001.11:g.54686315C>T	ExAC,TOPMed,gnomAD
rs778007565	p.Ile861Val	missense variant	-	NC_000001.11:g.54686318A>G	ExAC,gnomAD
rs757291963	p.Tyr862Ser	missense variant	-	NC_000001.11:g.54686322A>C	ExAC,gnomAD
rs757291963	p.Tyr862Cys	missense variant	-	NC_000001.11:g.54686322A>G	ExAC,gnomAD
rs201167904	p.Tyr862His	missense variant	-	NC_000001.11:g.54686321T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1288442457	p.Pro863Leu	missense variant	-	NC_000001.11:g.54686325C>T	TOPMed
NCI-TCGA novel	p.Gln864His	missense variant	-	NC_000001.11:g.54686329G>T	NCI-TCGA
rs1401708550	p.Ala868Val	missense variant	-	NC_000001.11:g.54686340C>T	gnomAD
rs770226786	p.Leu869Pro	missense variant	-	NC_000001.11:g.54686343T>C	ExAC,gnomAD
rs770226786	p.Leu869Arg	missense variant	-	NC_000001.11:g.54686343T>G	ExAC,gnomAD
rs1334500317	p.Leu870Phe	missense variant	-	NC_000001.11:g.54686345C>T	TOPMed
NCI-TCGA novel	p.Gln872Arg	missense variant	-	NC_000001.11:g.54686352A>G	NCI-TCGA
rs760470973	p.Gln872Pro	missense variant	-	NC_000001.11:g.54686352A>C	ExAC,gnomAD
rs772890691	p.Gln872Ter	stop gained	-	NC_000001.11:g.54686351C>T	ExAC,TOPMed,gnomAD
rs770553481	p.Val873Leu	missense variant	-	NC_000001.11:g.54686354G>C	ExAC,TOPMed,gnomAD
rs770553481	p.Val873Phe	missense variant	-	NC_000001.11:g.54686354G>T	ExAC,TOPMed,gnomAD
rs770553481	p.Val873Ile	missense variant	-	NC_000001.11:g.54686354G>A	ExAC,TOPMed,gnomAD
rs1281558909	p.His874Arg	missense variant	-	NC_000001.11:g.54686358A>G	gnomAD
rs537434639	p.Tyr875His	missense variant	-	NC_000001.11:g.54686360T>C	1000Genomes
rs1459037851	p.Tyr875Phe	missense variant	-	NC_000001.11:g.54686361A>T	TOPMed
rs1351659824	p.His876Tyr	missense variant	-	NC_000001.11:g.54686363C>T	TOPMed,gnomAD
rs776225658	p.His876Leu	missense variant	-	NC_000001.11:g.54686364A>T	ExAC,TOPMed,gnomAD
rs1351659824	p.His876Asn	missense variant	-	NC_000001.11:g.54686363C>A	TOPMed,gnomAD
rs370978346	p.Ile877Phe	missense variant	-	NC_000001.11:g.54686366A>T	ESP,TOPMed
rs568121328	p.Gly878Ser	missense variant	-	NC_000001.11:g.54686369G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs762789848	p.Leu879Ile	missense variant	-	NC_000001.11:g.54686372C>A	ExAC,gnomAD
rs762789848	p.Leu879Phe	missense variant	-	NC_000001.11:g.54686372C>T	ExAC,gnomAD
rs545100293	p.Asn880Lys	missense variant	-	NC_000001.11:g.54686377C>A	ExAC,gnomAD
rs528026149	p.Asn880Ser	missense variant	-	NC_000001.11:g.54686376A>G	ExAC,gnomAD
rs920969649	p.Leu881Pro	missense variant	-	NC_000001.11:g.54686379T>C	TOPMed,gnomAD
rs781402459	p.Cys884Ser	missense variant	-	NC_000001.11:g.54686387T>A	ExAC,gnomAD
rs371005007	p.Val885Met	missense variant	-	NC_000001.11:g.54686390G>A	ESP,ExAC,TOPMed,gnomAD
rs1330756620	p.Ala886Thr	missense variant	-	NC_000001.11:g.54686393G>A	TOPMed
rs1338009659	p.Pro887Thr	missense variant	-	NC_000001.11:g.54686396C>A	gnomAD
rs1268438382	p.Pro888Thr	missense variant	-	NC_000001.11:g.54686399C>A	TOPMed
NCI-TCGA novel	p.Lys889Asn	missense variant	-	NC_000001.11:g.54686404G>T	NCI-TCGA
rs1394424480	p.Lys889Met	missense variant	-	NC_000001.11:g.54686403A>T	gnomAD
rs1222672829	p.Asp890Asn	missense variant	-	NC_000001.11:g.54686405G>A	TOPMed
rs373903273	p.Lys893Asn	missense variant	-	NC_000001.11:g.54686416G>T	ESP,ExAC,TOPMed,gnomAD
rs1336585771	p.Ala895Ser	missense variant	-	NC_000001.11:g.54686420G>T	TOPMed,gnomAD
rs1336585771	p.Ala895Thr	missense variant	-	NC_000001.11:g.54686420G>A	TOPMed,gnomAD
rs1238538263	p.Gln896Glu	missense variant	-	NC_000001.11:g.54686423C>G	gnomAD
rs1286656000	p.Pro897Ser	missense variant	-	NC_000001.11:g.54686426C>T	gnomAD
rs1286656000	p.Pro897Ala	missense variant	-	NC_000001.11:g.54686426C>G	gnomAD
rs1437816228	p.Ser898Phe	missense variant	-	NC_000001.11:g.54686430C>T	TOPMed
COSM3490943	p.Pro899Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54686432C>T	NCI-TCGA Cosmic
rs776457719	p.Val901Ala	missense variant	-	NC_000001.11:g.54686439T>C	ExAC,TOPMed,gnomAD
COSM1343526	p.Val901Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54686438G>T	NCI-TCGA Cosmic
rs770642996	p.Val901Ile	missense variant	-	NC_000001.11:g.54686438G>A	ExAC,gnomAD
rs1197038001	p.Pro902Ser	missense variant	-	NC_000001.11:g.54686441C>T	gnomAD
rs745325878	p.Pro902Leu	missense variant	-	NC_000001.11:g.54686442C>T	ExAC,gnomAD
NCI-TCGA novel	p.Val903Leu	missense variant	-	NC_000001.11:g.54686444G>C	NCI-TCGA
rs776173828	p.Arg904Ser	missense variant	-	NC_000001.11:g.54686447C>A	ExAC,TOPMed,gnomAD
rs762860440	p.Arg904His	missense variant	-	NC_000001.11:g.54686448G>A	ExAC,TOPMed,gnomAD
rs776173828	p.Arg904Cys	missense variant	-	NC_000001.11:g.54686447C>T	ExAC,TOPMed,gnomAD
rs768408191	p.Trp905Cys	missense variant	-	NC_000001.11:g.54692427G>C	ExAC,gnomAD
COSM6126879	p.Val906Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54692428G>C	NCI-TCGA Cosmic
rs774302483	p.Val906Met	missense variant	-	NC_000001.11:g.54692428G>A	ExAC,TOPMed,gnomAD
rs538253628	p.Thr912Ile	missense variant	-	NC_000001.11:g.54692447C>T	1000Genomes,ExAC,gnomAD
rs538253628	p.Thr912Asn	missense variant	-	NC_000001.11:g.54692447C>A	1000Genomes,ExAC,gnomAD
rs964668720	p.Leu915Pro	missense variant	-	NC_000001.11:g.54692456T>C	TOPMed
rs773391407	p.Met917Thr	missense variant	-	NC_000001.11:g.54692462T>C	ExAC,gnomAD
rs975781765	p.Gly918Ser	missense variant	-	NC_000001.11:g.54692464G>A	TOPMed,gnomAD
rs760864895	p.Cys919Phe	missense variant	-	NC_000001.11:g.54692468G>T	ExAC,gnomAD
COSM910926	p.Glu922Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54692478G>T	NCI-TCGA Cosmic
rs1210064879	p.Glu922Val	missense variant	-	NC_000001.11:g.54692477A>T	TOPMed
rs766638802	p.Thr923Ile	missense variant	-	NC_000001.11:g.54692480C>T	ExAC,TOPMed,gnomAD
rs755118892	p.Thr924Met	missense variant	-	NC_000001.11:g.54692483C>T	ExAC,TOPMed,gnomAD
rs753310419	p.Phe925Leu	missense variant	-	NC_000001.11:g.54692485T>C	ExAC,gnomAD
COSM6063665	p.Glu927Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.54692491G>T	NCI-TCGA Cosmic
rs758808395	p.Asp928Asn	missense variant	-	NC_000001.11:g.54692494G>A	ExAC,TOPMed,gnomAD
rs758808395	p.Asp928Tyr	missense variant	-	NC_000001.11:g.54692494G>T	ExAC,TOPMed,gnomAD
rs778345436	p.Asp928Glu	missense variant	-	NC_000001.11:g.54692496C>G	ExAC,gnomAD
rs893910743	p.Gly930Arg	missense variant	-	NC_000001.11:g.54692500G>C	TOPMed,gnomAD
rs568935952	p.Gly930Asp	missense variant	-	NC_000001.11:g.54692501G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs893910743	p.Gly930Ser	missense variant	-	NC_000001.11:g.54692500G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gly931Ala	missense variant	-	NC_000001.11:g.54692504G>C	NCI-TCGA
rs537957753	p.Gly931Ser	missense variant	-	NC_000001.11:g.54692503G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs779758027	p.Glu933Lys	missense variant	-	NC_000001.11:g.54692509G>A	ExAC,gnomAD
rs748704715	p.Leu934Arg	missense variant	-	NC_000001.11:g.54692513T>G	ExAC
rs1188642737	p.Leu934Phe	missense variant	-	NC_000001.11:g.54692512C>T	TOPMed,gnomAD
rs1455610200	p.Met935Ile	missense variant	-	NC_000001.11:g.54692517G>A	TOPMed
rs768233703	p.Met935Val	missense variant	-	NC_000001.11:g.54692515A>G	ExAC,gnomAD
COSM426487	p.Met935Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54692516T>C	NCI-TCGA Cosmic
rs748123333	p.His942Gln	missense variant	-	NC_000001.11:g.54692538C>A	ExAC,TOPMed,gnomAD
rs771841626	p.Arg943Cys	missense variant	-	NC_000001.11:g.54692539C>T	ExAC,TOPMed,gnomAD
rs772933221	p.Arg943His	missense variant	-	NC_000001.11:g.54692540G>A	ExAC,TOPMed,gnomAD
rs772933221	p.Arg943Leu	missense variant	-	NC_000001.11:g.54692540G>T	ExAC,TOPMed,gnomAD
COSM3490949	p.Gly944Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54692543G>A	NCI-TCGA Cosmic
rs544132487	p.Gly944Arg	missense variant	-	NC_000001.11:g.54692542G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs540861616	p.Val945Leu	missense variant	-	NC_000001.11:g.54692545G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs577466388	p.Ala949Thr	missense variant	-	NC_000001.11:g.54692557G>A	1000Genomes,ExAC,gnomAD
rs763608015	p.Ala949Gly	missense variant	-	NC_000001.11:g.54692558C>G	ExAC,gnomAD
rs577466388	p.Ala949Ser	missense variant	-	NC_000001.11:g.54692557G>T	1000Genomes,ExAC,gnomAD
rs1411499955	p.Met952Thr	missense variant	-	NC_000001.11:g.54695381T>C	gnomAD
rs1397268057	p.Met952Leu	missense variant	-	NC_000001.11:g.54695380A>C	TOPMed
rs1397268057	p.Met952Val	missense variant	-	NC_000001.11:g.54695380A>G	TOPMed
rs754568494	p.Val953Leu	missense variant	-	NC_000001.11:g.54695383G>C	ExAC,TOPMed,gnomAD
rs754568494	p.Val953Met	missense variant	-	NC_000001.11:g.54695383G>A	ExAC,TOPMed,gnomAD
rs752165238	p.Cys957Arg	missense variant	-	NC_000001.11:g.54695395T>C	ExAC,gnomAD
rs1469189135	p.Gln958Ter	stop gained	-	NC_000001.11:g.54695398C>T	TOPMed,gnomAD
rs1469189135	p.Gln958Glu	missense variant	-	NC_000001.11:g.54695398C>G	TOPMed,gnomAD
rs565616326	p.Cys961Tyr	missense variant	-	NC_000001.11:g.54695408G>A	1000Genomes,ExAC,gnomAD
rs757002867	p.Arg962His	missense variant	-	NC_000001.11:g.54695411G>A	ExAC,TOPMed,gnomAD
rs199865197	p.Arg962Cys	missense variant	-	NC_000001.11:g.54695410C>T	ESP,ExAC,TOPMed,gnomAD
rs1417283710	p.Tyr965Ter	stop gained	-	NC_000001.11:g.54695421C>G	TOPMed
COSM3490952	p.Tyr965Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54695420A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu966ProPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.54695420_54695421insC	NCI-TCGA
rs375674756	p.Leu966Met	missense variant	-	NC_000001.11:g.54695422C>A	ESP,ExAC,gnomAD
rs770070946	p.Leu966Pro	missense variant	-	NC_000001.11:g.54695423T>C	ExAC,gnomAD
rs775883799	p.Pro969Thr	missense variant	-	NC_000001.11:g.54695431C>A	ExAC,gnomAD
rs369706916	p.Pro969Leu	missense variant	-	NC_000001.11:g.54695432C>T	ESP,ExAC,TOPMed,gnomAD
rs774687453	p.Leu970Phe	missense variant	-	NC_000001.11:g.54695434C>T	ExAC,TOPMed,gnomAD
COSM6126876	p.Glu972Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54695440G>C	NCI-TCGA Cosmic
rs1269268539	p.Glu972Asp	missense variant	-	NC_000001.11:g.54695442G>T	gnomAD
rs377441304	p.Arg973Ter	stop gained	-	NC_000001.11:g.54695443C>T	ESP,ExAC,gnomAD
rs773558683	p.Arg973Gln	missense variant	-	NC_000001.11:g.54695444G>A	ExAC,TOPMed,gnomAD
rs761060262	p.Gly974Asp	missense variant	-	NC_000001.11:g.54695447G>A	ExAC,TOPMed,gnomAD
rs752398394	p.Asp975Asn	missense variant	-	NC_000001.11:g.54695449G>A	ExAC,TOPMed,gnomAD
rs752398394	p.Asp975Tyr	missense variant	-	NC_000001.11:g.54695449G>T	ExAC,TOPMed,gnomAD
rs200130362	p.Glu976Lys	missense variant	-	NC_000001.11:g.54695452G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys977Asn	missense variant	-	NC_000001.11:g.54695457G>T	NCI-TCGA
rs1210651798	p.His978Tyr	missense variant	-	NC_000001.11:g.54695458C>T	TOPMed
NCI-TCGA novel	p.Arg979Gly	missense variant	-	NC_000001.11:g.54695461A>G	NCI-TCGA
rs763729531	p.Arg979Lys	missense variant	-	NC_000001.11:g.54695462G>A	ExAC,gnomAD
rs1346595039	p.Arg979Ser	missense variant	-	NC_000001.11:g.54695463G>C	gnomAD
rs751441990	p.Thr981Ser	missense variant	-	NC_000001.11:g.54695467A>T	ExAC,TOPMed,gnomAD
rs201569288	p.Thr981Met	missense variant	-	NC_000001.11:g.54695468C>T	ESP,ExAC,TOPMed,gnomAD
rs751441990	p.Thr981Ala	missense variant	-	NC_000001.11:g.54695467A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala982Thr	missense variant	-	NC_000001.11:g.54695470G>A	NCI-TCGA
rs1273960821	p.Thr983Ile	missense variant	-	NC_000001.11:g.54695474C>T	gnomAD
rs780399619	p.Ala984Thr	missense variant	-	NC_000001.11:g.54695476G>A	ExAC,TOPMed,gnomAD
rs749560403	p.Phe986Leu	missense variant	-	NC_000001.11:g.54695482T>C	ExAC,gnomAD
rs774547766	p.Val987Met	missense variant	-	NC_000001.11:g.54695485G>A	ExAC,TOPMed,gnomAD
rs1173259415	p.Leu989Val	missense variant	-	NC_000001.11:g.54700321C>G	gnomAD
NCI-TCGA novel	p.Leu990Phe	missense variant	-	NC_000001.11:g.54700324C>T	NCI-TCGA
rs750198714	p.Gln991His	missense variant	-	NC_000001.11:g.54700329G>C	TOPMed
rs980049650	p.Met992Arg	missense variant	-	NC_000001.11:g.54700331T>G	TOPMed,gnomAD
rs980049650	p.Met992Lys	missense variant	-	NC_000001.11:g.54700331T>A	TOPMed,gnomAD
rs767653695	p.Glu993Val	missense variant	-	NC_000001.11:g.54700334A>T	ExAC,gnomAD
COSM3490955	p.Glu993Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54700333G>A	NCI-TCGA Cosmic
rs925479148	p.Gln994Arg	missense variant	-	NC_000001.11:g.54700337A>G	TOPMed,gnomAD
rs750930019	p.Val995Ala	missense variant	-	NC_000001.11:g.54700340T>C	ExAC,gnomAD
rs145665162	p.Arg996Leu	missense variant	-	NC_000001.11:g.54700343G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139827199	p.Arg996Cys	missense variant	-	NC_000001.11:g.54700342C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145665162	p.Arg996His	missense variant	-	NC_000001.11:g.54700343G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs540672415	p.Arg997Gln	missense variant	-	NC_000001.11:g.54700346G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1218730541	p.Arg997Trp	missense variant	-	NC_000001.11:g.54700345C>T	TOPMed,gnomAD
rs539984944	p.Glu1000Lys	missense variant	-	NC_000001.11:g.54700354G>A	TOPMed,gnomAD
rs577330133	p.Glu1001Ter	stop gained	-	NC_000001.11:g.54700357G>T	1000Genomes,ExAC,gnomAD
rs745384704	p.Arg1006Gln	missense variant	-	NC_000001.11:g.54700373G>A	ExAC,TOPMed
rs368557133	p.Arg1006Trp	missense variant	-	NC_000001.11:g.54700372C>T	ESP,ExAC,TOPMed,gnomAD
rs769573965	p.Met1007Val	missense variant	-	NC_000001.11:g.54700375A>G	ExAC,gnomAD
rs775515297	p.Met1007Thr	missense variant	-	NC_000001.11:g.54700376T>C	ExAC,gnomAD
rs1325870582	p.Glu1009Lys	missense variant	-	NC_000001.11:g.54700381G>A	gnomAD
rs1351011082	p.Glu1009Ala	missense variant	-	NC_000001.11:g.54700382A>C	gnomAD
rs1436332104	p.Gly1010Val	missense variant	-	NC_000001.11:g.54700385G>T	TOPMed,gnomAD
rs371336314	p.His1013Asn	missense variant	-	NC_000001.11:g.54700393C>A	ESP,ExAC,TOPMed,gnomAD
rs371336314	p.His1013Tyr	missense variant	-	NC_000001.11:g.54700393C>T	ESP,ExAC,TOPMed,gnomAD
rs1328981713	p.His1014Asn	missense variant	-	NC_000001.11:g.54700396C>A	gnomAD
rs767795784	p.Asp1015Asn	missense variant	-	NC_000001.11:g.54700399G>A	ExAC,TOPMed,gnomAD
rs767795784	p.Asp1015His	missense variant	-	NC_000001.11:g.54700399G>C	ExAC,TOPMed,gnomAD
rs760841020	p.Asp1015Glu	missense variant	-	NC_000001.11:g.54700401C>A	ExAC,TOPMed,gnomAD
rs1229852450	p.Asp1015Gly	missense variant	-	NC_000001.11:g.54700400A>G	gnomAD
rs1450797271	p.Pro1016Arg	missense variant	-	NC_000001.11:g.54700403C>G	gnomAD
rs371783540	p.Pro1016Ser	missense variant	-	NC_000001.11:g.54700402C>T	ExAC,gnomAD
rs754407459	p.Ile1017Leu	missense variant	-	NC_000001.11:g.54700405A>C	ExAC,TOPMed,gnomAD
rs201020637	p.Ile1017Thr	missense variant	-	NC_000001.11:g.54700406T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1465004423	p.Met1018Arg	missense variant	-	NC_000001.11:g.54700409T>G	gnomAD
rs549374085	p.Leu1021Val	missense variant	-	NC_000001.11:g.54700417C>G	1000Genomes,ExAC,gnomAD
rs756900295	p.Ser1022Tyr	missense variant	-	NC_000001.11:g.54700421C>A	ExAC,gnomAD
rs756900295	p.Ser1022Cys	missense variant	-	NC_000001.11:g.54700421C>G	ExAC,gnomAD
rs199526169	p.Arg1024Ter	stop gained	-	NC_000001.11:g.54700426C>T	ExAC,TOPMed,gnomAD
rs367676842	p.Arg1024Gln	missense variant	-	NC_000001.11:g.54700427G>A	ESP,ExAC,TOPMed,gnomAD
rs1212821007	p.Ile1028Thr	missense variant	-	NC_000001.11:g.54700439T>C	TOPMed
rs1338054110	p.Leu1029Pro	missense variant	-	NC_000001.11:g.54700442T>C	TOPMed,gnomAD
rs147744184	p.Arg1031Gly	missense variant	-	NC_000001.11:g.54700447C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774077427	p.Arg1031Leu	missense variant	-	NC_000001.11:g.54700448G>T	ExAC,gnomAD
rs774077427	p.Arg1031His	missense variant	-	NC_000001.11:g.54700448G>A	ExAC,gnomAD
rs147744184	p.Arg1031Cys	missense variant	-	NC_000001.11:g.54700447C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1450521332	p.Arg1032Ser	missense variant	-	NC_000001.11:g.54700452G>T	TOPMed,gnomAD
rs528493624	p.Lys1035Arg	missense variant	-	NC_000001.11:g.54700460A>G	1000Genomes,ExAC,gnomAD
rs758853291	p.Thr1036Ile	missense variant	-	NC_000001.11:g.54701144C>T	ExAC,gnomAD
rs973469578	p.Ala1037Thr	missense variant	-	NC_000001.11:g.54701146G>A	TOPMed,gnomAD
rs750134402	p.Val1039Leu	missense variant	-	NC_000001.11:g.54701152G>T	ExAC,TOPMed,gnomAD
rs750134402	p.Val1039Met	missense variant	-	NC_000001.11:g.54701152G>A	ExAC,TOPMed,gnomAD
rs779676200	p.Ala1041Asp	missense variant	-	NC_000001.11:g.54701159C>A	ExAC,TOPMed,gnomAD
rs755578568	p.Ala1041Thr	missense variant	-	NC_000001.11:g.54701158G>A	ExAC
rs774283757	p.Leu1042Arg	missense variant	-	NC_000001.11:g.54701162T>G	ExAC,TOPMed,gnomAD
rs1310066187	p.Pro1044Leu	missense variant	-	NC_000001.11:g.54701168C>T	gnomAD
rs1433042864	p.Pro1044Ser	missense variant	-	NC_000001.11:g.54701167C>T	gnomAD
rs199663218	p.Ser1045Pro	missense variant	-	NC_000001.11:g.54701170T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1304795344	p.Met1046Leu	missense variant	-	NC_000001.11:g.54701173A>C	gnomAD
rs1332685763	p.Met1046Thr	missense variant	-	NC_000001.11:g.54701174T>C	gnomAD
rs1304795344	p.Met1046Val	missense variant	-	NC_000001.11:g.54701173A>G	gnomAD
COSM6063662	p.Lys1048Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54701181G>T	NCI-TCGA Cosmic
rs377123183	p.Gly1049Asp	missense variant	-	NC_000001.11:g.54701183G>A	ESP,ExAC,gnomAD
rs1206901943	p.Leu1050Val	missense variant	-	NC_000001.11:g.54701185C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Lys1051Asn	missense variant	-	NC_000001.11:g.54701190G>T	NCI-TCGA
rs776782420	p.Lys1051Asn	missense variant	-	NC_000001.11:g.54701190G>C	ExAC,TOPMed,gnomAD
rs759717992	p.Met1053Thr	missense variant	-	NC_000001.11:g.54701195T>C	ExAC,gnomAD
rs1435386082	p.Met1056Ile	missense variant	-	NC_000001.11:g.54701205G>A	gnomAD
rs776184970	p.Val1058Met	missense variant	-	NC_000001.11:g.54701209G>A	ExAC,gnomAD
COSM3805606	p.Glu1060Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.54701215G>T	NCI-TCGA Cosmic
rs201277023	p.Ala1061Gly	missense variant	-	NC_000001.11:g.54701219C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201277023	p.Ala1061Val	missense variant	-	NC_000001.11:g.54701219C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs543083195	p.Ala1061Ser	missense variant	-	NC_000001.11:g.54701218G>T	1000Genomes,ExAC,gnomAD
rs755736946	p.Val1062Ala	missense variant	-	NC_000001.11:g.54701222T>C	ExAC,gnomAD
NCI-TCGA novel	p.His1063Gln	missense variant	-	NC_000001.11:g.54701226C>A	NCI-TCGA
rs949224753	p.Asn1064Ser	missense variant	-	NC_000001.11:g.54701228A>G	TOPMed
rs1454477368	p.Phe1069Leu	missense variant	-	NC_000001.11:g.54701244C>G	TOPMed
rs200703123	p.Lys1070Asn	missense variant	-	NC_000001.11:g.54701247G>T	1000Genomes,ExAC,gnomAD
rs778801607	p.Arg1072Leu	missense variant	-	NC_000001.11:g.54701252G>T	ExAC,TOPMed,gnomAD
rs754506772	p.Arg1072Trp	missense variant	-	NC_000001.11:g.54701251C>T	ExAC,TOPMed,gnomAD
rs778801607	p.Arg1072Gln	missense variant	-	NC_000001.11:g.54701252G>A	ExAC,TOPMed,gnomAD
rs980588042	p.Asp1073Gly	missense variant	-	NC_000001.11:g.54701255A>G	TOPMed
rs1227195098	p.Asp1073His	missense variant	-	NC_000001.11:g.54701254G>C	gnomAD
rs1249929947	p.Leu1076Met	missense variant	-	NC_000001.11:g.54701263C>A	gnomAD
rs1285581354	p.Met1077Thr	missense variant	-	NC_000001.11:g.54701267T>C	TOPMed
rs1204860050	p.Asp1078Tyr	missense variant	-	NC_000001.11:g.54701269G>T	TOPMed
rs748149950	p.Asp1078Gly	missense variant	-	NC_000001.11:g.54701270A>G	ExAC,gnomAD
rs1211006442	p.Ser1079Thr	missense variant	-	NC_000001.11:g.54701273G>C	gnomAD
rs201434014	p.Ala1080Val	missense variant	-	NC_000001.11:g.54701276C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1248912022	p.Val1081Phe	missense variant	-	NC_000001.11:g.54701278G>T	gnomAD
rs1370607445	p.Val1081Ala	missense variant	-	NC_000001.11:g.54701279T>C	TOPMed
rs771141407	p.Tyr1082Ter	stop gained	-	NC_000001.11:g.54701283T>A	ExAC,gnomAD
rs374529089	p.Tyr1082Cys	missense variant	-	NC_000001.11:g.54701282A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1370015919	p.Val1083Met	missense variant	-	NC_000001.11:g.54701284G>A	gnomAD
rs892132249	p.Val1083Ala	missense variant	-	NC_000001.11:g.54701285T>C	TOPMed
rs1328074356	p.Met1085Ile	missense variant	-	NC_000001.11:g.54701292G>A	TOPMed
rs1446271034	p.Leu1086Arg	missense variant	-	NC_000001.11:g.54701294T>G	TOPMed,gnomAD
rs777013639	p.Gln1087Glu	missense variant	-	NC_000001.11:g.54701296C>G	ExAC,TOPMed,gnomAD
rs367806175	p.Gln1087Arg	missense variant	-	NC_000001.11:g.54701297A>G	ESP,ExAC,TOPMed
rs1175333740	p.Leu1089Val	missense variant	-	NC_000001.11:g.54701302C>G	TOPMed
rs371692735	p.Pro1091Leu	missense variant	-	NC_000001.11:g.54701309C>T	ESP,ExAC,TOPMed,gnomAD
rs371692735	p.Pro1091Arg	missense variant	-	NC_000001.11:g.54701309C>G	ESP,ExAC,TOPMed,gnomAD
rs762118162	p.Ser1094Arg	missense variant	-	NC_000001.11:g.54701319C>G	ExAC,TOPMed,gnomAD
rs765968427	p.Asp1095Asn	missense variant	-	NC_000001.11:g.54701320G>A	ExAC,TOPMed,gnomAD
rs1235499186	p.Ala1096Val	missense variant	-	NC_000001.11:g.54702091C>T	gnomAD
rs565587126	p.Arg1097Pro	missense variant	-	NC_000001.11:g.54702094G>C	1000Genomes,ExAC,gnomAD
rs565587126	p.Arg1097Gln	missense variant	-	NC_000001.11:g.54702094G>A	1000Genomes,ExAC,gnomAD
rs764872939	p.Arg1097Ter	stop gained	-	NC_000001.11:g.54702093C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1098Gln	missense variant	-	NC_000001.11:g.54702096G>C	NCI-TCGA
rs1476168146	p.Glu1098Gly	missense variant	-	NC_000001.11:g.54702097A>G	TOPMed
rs764067786	p.Glu1098Asp	missense variant	-	NC_000001.11:g.54702098G>T	ExAC,gnomAD
rs646356	p.Val1099Asp	missense variant	-	NC_000001.11:g.54702100T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781195276	p.Val1100Glu	missense variant	-	NC_000001.11:g.54702103T>A	ExAC,gnomAD
rs1465274875	p.Val1100Met	missense variant	-	NC_000001.11:g.54702102G>A	TOPMed,gnomAD
rs369046017	p.Arg1101His	missense variant	-	NC_000001.11:g.54702106G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756340446	p.Arg1101Cys	missense variant	-	NC_000001.11:g.54702105C>T	ExAC,TOPMed,gnomAD
rs369046017	p.Arg1101Leu	missense variant	-	NC_000001.11:g.54702106G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756340446	p.Arg1101Gly	missense variant	-	NC_000001.11:g.54702105C>G	ExAC,TOPMed,gnomAD
rs181655955	p.Ser1102Phe	missense variant	-	NC_000001.11:g.54702109C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs181655955	p.Ser1102Tyr	missense variant	-	NC_000001.11:g.54702109C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs779444814	p.Ser1103Pro	missense variant	-	NC_000001.11:g.54702111T>C	ExAC,gnomAD
rs748659707	p.Ser1103Phe	missense variant	-	NC_000001.11:g.54702112C>T	ExAC,TOPMed,gnomAD
rs1233898157	p.Ile1105Val	missense variant	-	NC_000001.11:g.54702117A>G	gnomAD
rs1434462701	p.Asn1106Ser	missense variant	-	NC_000001.11:g.54702121A>G	TOPMed,gnomAD
rs1232260569	p.Gly1109Arg	missense variant	-	NC_000001.11:g.54702129G>A	gnomAD
rs142396426	p.Gly1109Glu	missense variant	-	NC_000001.11:g.54702130G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs762489319	p.Lys1110Arg	missense variant	-	NC_000001.11:g.54702133A>G	ExAC,gnomAD
rs564462171	p.Gln1113Arg	missense variant	-	NC_000001.11:g.54702142A>G	1000Genomes,ExAC,gnomAD
rs375276448	p.Lys1114Glu	missense variant	-	NC_000001.11:g.54702144A>G	ESP,ExAC,TOPMed,gnomAD
rs375276448	p.Lys1114Gln	missense variant	-	NC_000001.11:g.54702144A>C	ESP,ExAC,TOPMed,gnomAD
rs372811123	p.Arg1116Gln	missense variant	-	NC_000001.11:g.54702151G>A	ESP,ExAC,TOPMed,gnomAD
rs369337894	p.Arg1116Trp	missense variant	-	NC_000001.11:g.54702150C>T	ESP,ExAC,TOPMed,gnomAD
rs1462936042	p.Ala1117Thr	missense variant	-	NC_000001.11:g.54702153G>A	TOPMed
NCI-TCGA novel	p.Pro1118Ala	missense variant	-	NC_000001.11:g.54702156C>G	NCI-TCGA
rs1440715208	p.Pro1118Ser	missense variant	-	NC_000001.11:g.54702156C>T	TOPMed,gnomAD
rs370697369	p.Arg1119Leu	missense variant	-	NC_000001.11:g.54702160G>T	ESP,ExAC,TOPMed,gnomAD
rs370697369	p.Arg1119His	missense variant	-	NC_000001.11:g.54702160G>A	ESP,ExAC,TOPMed,gnomAD
rs376324443	p.Arg1119Cys	missense variant	-	NC_000001.11:g.54702159C>T	ESP,ExAC,TOPMed,gnomAD
rs778800274	p.Thr1120Ala	missense variant	-	NC_000001.11:g.54702162A>G	ExAC,TOPMed,gnomAD
rs772525490	p.Gln1121Glu	missense variant	-	NC_000001.11:g.54702165C>G	ExAC,TOPMed,gnomAD
rs1272082123	p.Met1123Val	missense variant	-	NC_000001.11:g.54702171A>G	gnomAD
rs778274332	p.Glu1124Lys	missense variant	-	NC_000001.11:g.54702174G>A	ExAC,gnomAD
rs747350118	p.Glu1125Lys	missense variant	-	NC_000001.11:g.54702177G>A	ExAC,TOPMed,gnomAD
rs1469253600	p.Leu1127Val	missense variant	-	NC_000001.11:g.54702183C>G	TOPMed
rs1249539991	p.Ser1129Asn	missense variant	-	NC_000001.11:g.54702190G>A	gnomAD
rs1166937509	p.Thr1130Ile	missense variant	-	NC_000001.11:g.54702193C>T	TOPMed,gnomAD
rs768372720	p.Thr1130Ser	missense variant	-	NC_000001.11:g.54702192A>T	ExAC,TOPMed,gnomAD
rs1408571252	p.Leu1131Phe	missense variant	-	NC_000001.11:g.54702197G>C	gnomAD
rs761442713	p.Val1132Ala	missense variant	-	NC_000001.11:g.54702199T>C	ExAC,gnomAD
rs1395787560	p.Pro1133Ser	missense variant	-	NC_000001.11:g.54702201C>T	gnomAD
NCI-TCGA novel	p.Met1138Ile	missense variant	-	NC_000001.11:g.54702218G>A	NCI-TCGA
rs773332837	p.Met1138Thr	missense variant	-	NC_000001.11:g.54702217T>C	ExAC,gnomAD
rs766155389	p.Gln1139Arg	missense variant	-	NC_000001.11:g.54702220A>G	ExAC,gnomAD
rs571257111	p.Gln1139Ter	stop gained	-	NC_000001.11:g.54702219C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs753679544	p.Glu1140Lys	missense variant	-	NC_000001.11:g.54702222G>A	ExAC,gnomAD
rs755087371	p.Gly1141Ser	missense variant	-	NC_000001.11:g.54702225G>A	ExAC,gnomAD
rs765527225	p.Lys1144Arg	missense variant	-	NC_000001.11:g.54702235A>G	ExAC,gnomAD
rs1211314980	p.Val1145Ala	missense variant	-	NC_000001.11:g.54702238T>C	gnomAD
rs983233923	p.Lys1148Glu	missense variant	-	NC_000001.11:g.54702623A>G	TOPMed,gnomAD
rs1412694510	p.Cys1149Arg	missense variant	-	NC_000001.11:g.54702626T>C	TOPMed,gnomAD
rs764214653	p.Val1150Gly	missense variant	-	NC_000001.11:g.54702630T>G	ExAC,gnomAD
rs751649634	p.Thr1152Ile	missense variant	-	NC_000001.11:g.54702636C>T	ExAC,gnomAD
rs950220346	p.Thr1152Pro	missense variant	-	NC_000001.11:g.54702635A>C	TOPMed
NCI-TCGA novel	p.Leu1153Met	missense variant	-	NC_000001.11:g.54702638C>A	NCI-TCGA
rs781739256	p.Arg1155His	missense variant	-	NC_000001.11:g.54702645G>A	ExAC,TOPMed,gnomAD
rs781739256	p.Arg1155Leu	missense variant	-	NC_000001.11:g.54702645G>T	ExAC,TOPMed,gnomAD
rs181035157	p.Arg1155Cys	missense variant	-	NC_000001.11:g.54702644C>T	1000Genomes,ExAC,gnomAD
rs1279160718	p.Cys1156Ser	missense variant	-	NC_000001.11:g.54702648G>C	gnomAD
rs377276727	p.Phe1159Leu	missense variant	-	NC_000001.11:g.54702656T>C	ESP,ExAC,gnomAD
rs756553653	p.Ala1161Ser	missense variant	-	NC_000001.11:g.54702662G>T	ExAC,gnomAD
rs1438860862	p.Trp1162Cys	missense variant	-	NC_000001.11:g.54702667G>C	gnomAD
rs1254625742	p.Trp1162Leu	missense variant	-	NC_000001.11:g.54702666G>T	gnomAD
NCI-TCGA novel	p.Arg1167GluPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.54702676A>-	NCI-TCGA
rs778678605	p.Arg1167Ile	missense variant	-	NC_000001.11:g.54702681G>T	ExAC,gnomAD
rs201261795	p.Ala1168Val	missense variant	-	NC_000001.11:g.54702684C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1394632276	p.Tyr1169His	missense variant	-	NC_000001.11:g.54702686T>C	gnomAD
rs371435764	p.Ser1170Arg	missense variant	-	NC_000001.11:g.54702691C>A	ESP,ExAC,TOPMed,gnomAD
rs371435764	p.Ser1170Arg	missense variant	-	NC_000001.11:g.54702691C>G	ESP,ExAC,TOPMed,gnomAD
rs201018136	p.Arg1171Trp	missense variant	-	NC_000001.11:g.54702692C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201876492	p.Arg1171Gln	missense variant	-	NC_000001.11:g.54702693G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs564825499	p.Pro1173His	missense variant	-	NC_000001.11:g.54702699C>A	1000Genomes,ExAC,gnomAD
rs769640448	p.Trp1174Ter	stop gained	-	NC_000001.11:g.54702702G>A	ExAC
rs1332390564	p.Asn1176Ser	missense variant	-	NC_000001.11:g.54702708A>G	gnomAD
rs775673994	p.Gln1178Pro	missense variant	-	NC_000001.11:g.54702714A>C	ExAC,gnomAD
rs1440596970	p.Gln1179Ter	stop gained	-	NC_000001.11:g.54702716C>T	TOPMed
rs368991246	p.Gln1179Arg	missense variant	-	NC_000001.11:g.54702717A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1182Thr	missense variant	-	NC_000001.11:g.54702725G>A	NCI-TCGA
rs1253490807	p.Ala1182Val	missense variant	-	NC_000001.11:g.54702726C>T	gnomAD
rs751601025	p.Cys1185Ser	missense variant	-	NC_000001.11:g.54702735G>C	ExAC,TOPMed,gnomAD
COSM4395884	p.Cys1185Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54702734T>C	NCI-TCGA Cosmic
rs550624883	p.Lys1186Asn	missense variant	-	NC_000001.11:g.54702739G>C	1000Genomes,ExAC,gnomAD
rs567221122	p.Cys1187Tyr	missense variant	-	NC_000001.11:g.54702741G>A	1000Genomes
rs775197078	p.Thr1191Ile	missense variant	-	NC_000001.11:g.54706442C>T	ExAC,TOPMed,gnomAD
rs775197078	p.Thr1191Asn	missense variant	-	NC_000001.11:g.54706442C>A	ExAC,TOPMed,gnomAD
rs368624796	p.Arg1193Ter	stop gained	-	NC_000001.11:g.54706447C>T	ESP,ExAC,TOPMed,gnomAD
rs377043574	p.Arg1193Gln	missense variant	-	NC_000001.11:g.54706448G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs11807983	p.Ala1196Thr	missense variant	-	NC_000001.11:g.54706456G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs573086314	p.Ile1198Met	missense variant	-	NC_000001.11:g.54706464A>G	gnomAD
rs1289088940	p.Phe1199Ile	missense variant	-	NC_000001.11:g.54706465T>A	gnomAD
NCI-TCGA novel	p.Leu1200Pro	missense variant	-	NC_000001.11:g.54706469T>C	NCI-TCGA
COSM259767	p.Ser1201Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54706472G>C	NCI-TCGA Cosmic
rs373580045	p.Ser1201Gly	missense variant	-	NC_000001.11:g.54706471A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu1204Met	missense variant	-	NC_000001.11:g.54706480C>A	NCI-TCGA
rs1293828487	p.Glu1205Asp	missense variant	-	NC_000001.11:g.54706485G>C	gnomAD
rs1382030818	p.Glu1205Gln	missense variant	-	NC_000001.11:g.54706483G>C	gnomAD
rs370989009	p.Tyr1206Ter	stop gained	-	NC_000001.11:g.54706488T>A	ESP,ExAC,TOPMed,gnomAD
rs375499322	p.Ala1207Thr	missense variant	-	NC_000001.11:g.54706489G>A	ESP,ExAC,TOPMed,gnomAD
rs368343655	p.Asn1209Ile	missense variant	-	NC_000001.11:g.54706496A>T	ESP,ExAC,TOPMed,gnomAD
rs372927834	p.Asn1209Lys	missense variant	-	NC_000001.11:g.54706497C>A	ESP,ExAC,TOPMed,gnomAD
rs375795723	p.Arg1211Trp	missense variant	-	NC_000001.11:g.54706501C>T	ESP,ExAC,TOPMed,gnomAD
rs763807533	p.Arg1211Gln	missense variant	-	NC_000001.11:g.54706502G>A	ExAC,TOPMed,gnomAD
rs1373000656	p.Ser1213Phe	missense variant	-	NC_000001.11:g.54706508C>T	TOPMed,gnomAD
rs780693038	p.Arg1215Trp	missense variant	-	NC_000001.11:g.54706513C>T	ExAC,TOPMed
rs371231994	p.Arg1215Gln	missense variant	-	NC_000001.11:g.54706514G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1216Glu	missense variant	-	NC_000001.11:g.54706516A>G	NCI-TCGA
rs1196873788	p.Cys1217Tyr	missense variant	-	NC_000001.11:g.54706520G>A	TOPMed
rs779991896	p.Val1219Asp	missense variant	-	NC_000001.11:g.54706526T>A	ExAC,gnomAD
rs779991896	p.Val1219Ala	missense variant	-	NC_000001.11:g.54706526T>C	ExAC,gnomAD
rs756008636	p.Val1219Ile	missense variant	-	NC_000001.11:g.54706525G>A	ExAC,gnomAD
rs200035527	p.Met1220Val	missense variant	-	NC_000001.11:g.54706528A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs12090399	p.Ile1222Thr	missense variant	-	NC_000001.11:g.54706535T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755672932	p.Gly1223Glu	missense variant	-	NC_000001.11:g.54709014G>A	ExAC,gnomAD
COSM1246672	p.Ser1224Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54709017C>T	NCI-TCGA Cosmic
rs749293821	p.Val1226Ile	missense variant	-	NC_000001.11:g.54709022G>A	ExAC,TOPMed,gnomAD
COSM4239746	p.Pro1227Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54709025C>T	NCI-TCGA Cosmic
rs868046332	p.Pro1227Leu	missense variant	-	NC_000001.11:g.54709026C>T	-
rs754754926	p.Met1229Val	missense variant	-	NC_000001.11:g.54709031A>G	ExAC,TOPMed,gnomAD
rs1233327999	p.Met1229Thr	missense variant	-	NC_000001.11:g.54709032T>C	TOPMed,gnomAD
COSM4395879	p.Met1229Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54709033G>A	NCI-TCGA Cosmic
rs754754926	p.Met1229Leu	missense variant	-	NC_000001.11:g.54709031A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1230Lys	missense variant	-	NC_000001.11:g.54709034G>A	NCI-TCGA
rs1309012111	p.Ser1231Asn	missense variant	-	NC_000001.11:g.54709038G>A	gnomAD
rs778712813	p.Met1233Ile	missense variant	-	NC_000001.11:g.54709045G>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr1234Ala	missense variant	-	NC_000001.11:g.54709046A>G	NCI-TCGA
rs1337871900	p.Glu1235Ala	missense variant	-	NC_000001.11:g.54709050A>C	TOPMed
rs747900802	p.Arg1237Cys	missense variant	-	NC_000001.11:g.54709055C>T	ExAC,TOPMed,gnomAD
rs200631122	p.Arg1237Leu	missense variant	-	NC_000001.11:g.54709056G>T	ESP,ExAC,TOPMed,gnomAD
rs200631122	p.Arg1237His	missense variant	-	NC_000001.11:g.54709056G>A	ESP,ExAC,TOPMed,gnomAD
rs1005051992	p.Leu1238Pro	missense variant	-	NC_000001.11:g.54709059T>C	TOPMed,gnomAD
rs1453463583	p.Glu1240Asp	missense variant	-	NC_000001.11:g.54709066A>C	TOPMed,gnomAD
rs1337417045	p.Glu1240Ter	stop gained	-	NC_000001.11:g.54709064G>T	TOPMed
rs1456602725	p.Val1241Gly	missense variant	-	NC_000001.11:g.54709068T>G	-
rs747053561	p.Val1241Leu	missense variant	-	NC_000001.11:g.54709067G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala1243Asp	missense variant	-	NC_000001.11:g.54709074C>A	NCI-TCGA
rs368891569	p.Ala1243Ser	missense variant	-	NC_000001.11:g.54709073G>T	ESP,ExAC,TOPMed,gnomAD
rs368891569	p.Ala1243Thr	missense variant	-	NC_000001.11:g.54709073G>A	ESP,ExAC,TOPMed,gnomAD
rs753306208	p.Ala1244Val	missense variant	-	NC_000001.11:g.54709946C>T	ExAC,TOPMed,gnomAD
COSM681721	p.Leu1248Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54709959G>C	NCI-TCGA Cosmic
COSM6063659	p.Arg1249Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54709961G>A	NCI-TCGA Cosmic
rs752642703	p.Ala1254Val	missense variant	-	NC_000001.11:g.54709976C>T	ExAC,gnomAD
rs752642703	p.Ala1254Gly	missense variant	-	NC_000001.11:g.54709976C>G	ExAC,gnomAD
rs1241943056	p.Ser1255Thr	missense variant	-	NC_000001.11:g.54709978T>A	gnomAD
rs1190777301	p.Ile1258Val	missense variant	-	NC_000001.11:g.54709987A>G	gnomAD
rs183037308	p.Tyr1259His	missense variant	-	NC_000001.11:g.54709990T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs201217871	p.Tyr1259Ter	stop gained	-	NC_000001.11:g.54709992C>A	ESP,ExAC,TOPMed,gnomAD
rs149350120	p.Tyr1259Cys	missense variant	-	NC_000001.11:g.54709991A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201217871	p.Tyr1259Ter	stop gained	-	NC_000001.11:g.54709992C>G	ESP,ExAC,TOPMed,gnomAD
rs750024173	p.Ala1260Thr	missense variant	-	NC_000001.11:g.54709993G>A	ExAC,gnomAD
rs764293392	p.Ala1260Glu	missense variant	-	NC_000001.11:g.54709994C>A	ExAC,TOPMed,gnomAD
rs1355961356	p.Gln1262Ter	stop gained	-	NC_000001.11:g.54709999C>T	TOPMed
rs533979276	p.Val1263Gly	missense variant	-	NC_000001.11:g.54710003T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs780611084	p.Gln1264Lys	missense variant	-	NC_000001.11:g.54710005C>A	ExAC,gnomAD
rs200340301	p.Gln1264Arg	missense variant	-	NC_000001.11:g.54710006A>G	ESP,ExAC,TOPMed,gnomAD
rs1398445178	p.Asp1265Asn	missense variant	-	NC_000001.11:g.54710008G>A	TOPMed
rs375213568	p.Cys1271Phe	missense variant	-	NC_000001.11:g.54710027G>T	ESP,ExAC
rs1005600806	p.Cys1271Gly	missense variant	-	NC_000001.11:g.54710026T>G	TOPMed
rs1350737542	p.Trp1272Arg	missense variant	-	NC_000001.11:g.54710029T>A	TOPMed,gnomAD
rs1222905255	p.Trp1272Leu	missense variant	-	NC_000001.11:g.54710030G>T	gnomAD
rs762197518	p.Trp1272Ter	stop gained	-	NC_000001.11:g.54710031G>A	ExAC,gnomAD
rs1351964040	p.Gln1273Ter	stop gained	-	NC_000001.11:g.54710032C>T	gnomAD
rs770523294	p.Ser1275Pro	missense variant	-	NC_000001.11:g.54710038T>C	ExAC,TOPMed,gnomAD
rs776302756	p.Ser1275Phe	missense variant	-	NC_000001.11:g.54710039C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu1277GlnPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.54710044_54710045insAATTCAAATTA	NCI-TCGA
rs759080340	p.Pro1278Leu	missense variant	-	NC_000001.11:g.54710048C>T	ExAC,TOPMed,gnomAD
rs144863077	p.His1279Gln	missense variant	-	NC_000001.11:g.54710052C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762728770	p.Gly1280Arg	missense variant	-	NC_000001.11:g.54710053G>A	ExAC,TOPMed,gnomAD
rs764155835	p.Ser1282Leu	missense variant	-	NC_000001.11:g.54710060C>T	ExAC,TOPMed,gnomAD
rs764155835	p.Ser1282Ter	stop gained	-	NC_000001.11:g.54710060C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp1283Cys	missense variant	-	NC_000001.11:g.54710064G>C	NCI-TCGA
rs751348263	p.Trp1283Arg	missense variant	-	NC_000001.11:g.54710062T>C	ExAC,gnomAD
COSM3490989	p.Trp1283Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.54710064G>A	NCI-TCGA Cosmic
rs1337285239	p.Val1284Glu	missense variant	-	NC_000001.11:g.54710066T>A	TOPMed
rs757165401	p.Val1284Leu	missense variant	-	NC_000001.11:g.54710065G>C	ExAC,gnomAD
rs757165401	p.Val1284Met	missense variant	-	NC_000001.11:g.54710065G>A	ExAC,gnomAD
rs750681124	p.Cys1285Tyr	missense variant	-	NC_000001.11:g.54710069G>A	ExAC,gnomAD
rs1330792563	p.Cys1285Arg	missense variant	-	NC_000001.11:g.54710068T>C	gnomAD
rs1445813080	p.Ala1288Val	missense variant	-	NC_000001.11:g.54710078C>T	TOPMed
rs756209885	p.Thr1289Ile	missense variant	-	NC_000001.11:g.54710081C>T	ExAC,gnomAD
COSM426489	p.His1291Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54710088C>A	NCI-TCGA Cosmic
rs779944388	p.His1291Tyr	missense variant	-	NC_000001.11:g.54710086C>T	ExAC,gnomAD
rs376743757	p.Arg1292His	missense variant	-	NC_000001.11:g.54710090G>A	ESP,ExAC,TOPMed,gnomAD
rs577302951	p.Arg1292Cys	missense variant	-	NC_000001.11:g.54710089C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs202134239	p.Trp1293Arg	missense variant	-	NC_000001.11:g.54710092T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748491584	p.Trp1293Cys	missense variant	-	NC_000001.11:g.54710094G>T	ExAC,gnomAD
rs558440480	p.Ser1294Ile	missense variant	-	NC_000001.11:g.54710096G>T	1000Genomes,TOPMed
rs139751339	p.Ser1294Arg	missense variant	-	NC_000001.11:g.54710097C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs187438824	p.Ser1296Thr	missense variant	-	NC_000001.11:g.54710102G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1236613528	p.Thr1302Ser	missense variant	-	NC_000001.11:g.54710120C>G	gnomAD
rs1455777128	p.Ser1303Phe	missense variant	-	NC_000001.11:g.54710123C>T	gnomAD
rs1455777128	p.Ser1303Tyr	missense variant	-	NC_000001.11:g.54710123C>A	gnomAD
rs61768790	p.Arg1306Trp	missense variant	-	NC_000001.11:g.54710131C>T	ExAC,TOPMed,gnomAD
rs377472472	p.Arg1306Gln	missense variant	-	NC_000001.11:g.54710132G>A	ESP,ExAC,TOPMed,gnomAD
rs750250573	p.Arg1307His	missense variant	-	NC_000001.11:g.54710135G>A	ExAC,TOPMed,gnomAD
rs201511804	p.Arg1307Cys	missense variant	-	NC_000001.11:g.54710134C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756224709	p.Trp1309Ter	stop gained	-	NC_000001.11:g.54710142G>A	ExAC,TOPMed,gnomAD
rs1372517416	p.Trp1309Leu	missense variant	-	NC_000001.11:g.54710141G>T	gnomAD
rs756224709	p.Trp1309Cys	missense variant	-	NC_000001.11:g.54710142G>C	ExAC,TOPMed,gnomAD
rs1287869056	p.Trp1309Arg	missense variant	-	NC_000001.11:g.54710140T>A	TOPMed
rs201739371	p.Gln1312Ter	stop gained	-	NC_000001.11:g.54710149C>T	ESP,ExAC,TOPMed,gnomAD
rs143029488	p.Ala1313Pro	missense variant	-	NC_000001.11:g.54710152G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs200978433	p.Ser1316Phe	missense variant	-	NC_000001.11:g.54710162C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs779386790	p.Ser1316Pro	missense variant	-	NC_000001.11:g.54710161T>C	ExAC,gnomAD
rs758918479	p.Lys1318Arg	missense variant	-	NC_000001.11:g.54710168A>G	ExAC,gnomAD
rs1256291467	p.Met1319Leu	missense variant	-	NC_000001.11:g.54710170A>C	gnomAD
rs1469866384	p.Met1319Ile	missense variant	-	NC_000001.11:g.54710172G>A	gnomAD
COSM6126873	p.Leu1321Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54710178G>C	NCI-TCGA Cosmic
rs1431240371	p.Leu1321Phe	missense variant	-	NC_000001.11:g.54710178G>T	gnomAD
rs376406945	p.Lys1322Asn	missense variant	-	NC_000001.11:g.54710181G>T	ESP,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0004096	Asthma	disease	GWASCAT
C0006142	Malignant neoplasm of breast	disease	UNIPROT

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence

GO:Biological Process

GO ID	GO Term	Evidence

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005615	extracellular space	HDA
GO:0016021	integral component of membrane	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C029790	2,2',3',4,4',5-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of MROH7 mRNA	25510870
C081766	2,4,4'-trichlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of MROH7 mRNA	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of MROH7 mRNA	25510870
C009828	2,4,5,2',5'-pentachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of MROH7 mRNA	25510870
C009407	2,5,2',5'-tetrachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of MROH7 mRNA	25510870
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of MROH7 gene	27153756
C026487	benzo(e)pyrene	benzo(e)pyrene results in increased methylation of MROH7 intron	30157460
C006780	bisphenol A	bisphenol A affects the expression of MROH7 mRNA	25181051
D003471	Cuprizone	Cuprizone results in increased expression of MROH7 mRNA	26577399
D000431	Ethanol	Ethanol affects the expression of MROH7 mRNA	30319688
D004397	Fonofos	Fonofos results in increased methylation of MROH7 promoter	22847954
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of MROH7 mRNA	26752646
D008694	Methamphetamine	Methamphetamine results in increased expression of MROH7 mRNA	29802913
D008701	Methapyrilene	Methapyrilene results in increased methylation of MROH7 intron	30157460
D010100	Oxygen	Oxygen deficiency results in increased expression of MROH7 mRNA	26516004
D010278	Parathion	Parathion results in increased methylation of MROH7 promoter	22847954
C410127	PCB 180	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of MROH7 mRNA	25510870
D010936	Plant Extracts	Plant Extracts results in decreased expression of MROH7 mRNA	23557933
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of MROH7 mRNA	24780913
D011441	Propylthiouracil	Propylthiouracil results in increased expression of MROH7 mRNA	25825206
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of MROH7 mRNA	25895662
D000077210	Sunitinib	Sunitinib results in increased expression of MROH7 mRNA	31533062
C012568	terbufos	terbufos results in increased methylation of MROH7 promoter	22847954
D014260	Triclosan	Triclosan results in decreased expression of MROH7 mRNA	30510588

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0325	Glycoprotein
KW-0472	Membrane
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR011989	ARM-like
IPR016024	ARM-type_fold

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term

Gene: MROH7

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

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