CleftGeneDB-Search

Gene: TBX10

Basic information

Tag	Content
Uniprot ID	O75333; Q14D64; Q86XS3;
Entrez ID	347853
Genbank protein ID	AAO73483.1; AAC23481.1; AAI13488.1; AAI13486.1;
Genbank nucleotide ID	NM_005995.4
Ensembl protein ID	ENSP00000335191
Ensembl nucleotide ID	ENSG00000167800
Gene name	T-box transcription factor TBX10
Gene symbol	TBX10
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Probable transcriptional regulator involved in developmental processes.
Sequence	MAAFLSAGLG ILAPSETYPL PTTSSGWEPR LGSPFPSGPC TSSTGAQAVA EPTGQGPKNP 60 RVSRVTVQLE MKPLWEEFNQ LGTEMIVTKA GRRMFPPFQV KILGMDSLAD YALLMDFIPL 120 DDKRYRYAFH SSAWLVAGKA DPATPGRVHF HPDSPAKGAQ WMRQIVSFDK LKLTNNLLDD 180 NGHIILNSMH RYQPRFHVVF VDPRKDSERY AQENFKSFIF TETQFTAVTA YQNHRITQLK 240 IASNPFAKGF RESDLDSWPV APRPLLSVPA RSHSSLSPCV LKGATDREKD PNKASASTSK 300 TPAWLHHQLL PPPEVLLAPA TYRPVTYQSL YSGAPSHLGI PRTRPAPYPL PNIRADRDQG 360 GLPLPAGLGL LSPTVVCLGP GQDSQ 385

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)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	TBX10		A0A452G9N7		Capra hircus	Prediction	More>>
1:1 ortholog	TBX10	347853	O75333		Homo sapiens	Prediction	More>>
1:1 ortholog	Tbx10	109575	Q810F8	CLP	Mus musculus	Publication	More>>
1:1 ortholog	TBX10		H2Q495		Pan troglodytes	Prediction	More>>
1:1 ortholog	Tbx10	688822	D3ZAQ3		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1246254887	p.Ala2Val	missense variant	-	NC_000011.10:g.67639468G>A	TOPMed
rs756467784	p.Ala3Val	missense variant	-	NC_000011.10:g.67635263G>A	ExAC,gnomAD
rs757342469	p.Leu5Pro	missense variant	-	NC_000011.10:g.67635257A>G	ExAC,gnomAD
rs1207575715	p.Ala7Val	missense variant	-	NC_000011.10:g.67635251G>A	gnomAD
COSM4835626	p.Gly8Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67635249C>T	NCI-TCGA Cosmic
rs754820545	p.Gly10Cys	missense variant	-	NC_000011.10:g.67635243C>A	ExAC,TOPMed,gnomAD
rs754820545	p.Gly10Ser	missense variant	-	NC_000011.10:g.67635243C>T	ExAC,TOPMed,gnomAD
rs1228056210	p.Gly10Asp	missense variant	-	NC_000011.10:g.67635242C>T	gnomAD
rs1055698382	p.Ile11Val	missense variant	-	NC_000011.10:g.67635240T>C	gnomAD
rs1300438648	p.Leu12Phe	missense variant	-	NC_000011.10:g.67635237G>A	gnomAD
rs753794880	p.Leu12Arg	missense variant	-	NC_000011.10:g.67635236A>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu12Ile	missense variant	-	NC_000011.10:g.67635237G>T	NCI-TCGA
rs1409297395	p.Ala13Pro	missense variant	-	NC_000011.10:g.67635234C>G	gnomAD
rs1330568058	p.Pro14Leu	missense variant	-	NC_000011.10:g.67635230G>A	TOPMed,gnomAD
rs1318906370	p.Pro14Thr	missense variant	-	NC_000011.10:g.67635231G>T	TOPMed
rs1318906370	p.Pro14Ser	missense variant	-	NC_000011.10:g.67635231G>A	TOPMed
rs1271474503	p.Glu16Asp	missense variant	-	NC_000011.10:g.67635223C>G	TOPMed
rs937255558	p.Thr17Asn	missense variant	-	NC_000011.10:g.67635221G>T	TOPMed,gnomAD
rs766130985	p.Pro19Ser	missense variant	-	NC_000011.10:g.67635216G>A	ExAC,TOPMed,gnomAD
rs766130985	p.Pro19Ala	missense variant	-	NC_000011.10:g.67635216G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro19Thr	missense variant	-	NC_000011.10:g.67635216G>T	NCI-TCGA
rs1371168447	p.Leu20Pro	missense variant	-	NC_000011.10:g.67635212A>G	gnomAD
rs1307669581	p.Pro21Leu	missense variant	-	NC_000011.10:g.67635209G>A	gnomAD
rs760517381	p.Thr22Ser	missense variant	-	NC_000011.10:g.67635207T>A	ExAC,gnomAD
rs1247285047	p.Thr23Ile	missense variant	-	NC_000011.10:g.67635203G>A	TOPMed
rs1170391995	p.Ser24Asn	missense variant	-	NC_000011.10:g.67635200C>T	gnomAD
rs767221109	p.Ser25Cys	missense variant	-	NC_000011.10:g.67635197G>C	ExAC,TOPMed,gnomAD
rs767221109	p.Ser25Phe	missense variant	-	NC_000011.10:g.67635197G>A	ExAC,TOPMed,gnomAD
rs761413865	p.Gly26Asp	missense variant	-	NC_000011.10:g.67635194C>T	ExAC,gnomAD
rs1196052552	p.Trp27Ser	missense variant	-	NC_000011.10:g.67635191C>G	TOPMed,gnomAD
rs1196052552	p.Trp27Ter	stop gained	-	NC_000011.10:g.67635191C>T	TOPMed,gnomAD
rs1042942511	p.Glu28Asp	missense variant	-	NC_000011.10:g.67635187C>A	TOPMed,gnomAD
rs1042942511	p.Glu28Asp	missense variant	-	NC_000011.10:g.67635187C>G	TOPMed,gnomAD
rs773960174	p.Pro29Thr	missense variant	-	NC_000011.10:g.67635186G>T	ExAC,TOPMed,gnomAD
rs773960174	p.Pro29Ser	missense variant	-	NC_000011.10:g.67635186G>A	ExAC,TOPMed,gnomAD
rs769229550	p.Pro29His	missense variant	-	NC_000011.10:g.67635185G>T	ExAC,gnomAD
rs763408796	p.Arg30Trp	missense variant	-	NC_000011.10:g.67635183G>A	ExAC,TOPMed,gnomAD
rs369591870	p.Arg30Gln	missense variant	-	NC_000011.10:g.67635182C>T	ESP,ExAC,TOPMed,gnomAD
rs770112981	p.Gly32Arg	missense variant	-	NC_000011.10:g.67635177C>T	ExAC
rs746173437	p.Ser33Thr	missense variant	-	NC_000011.10:g.67635174A>T	ExAC,gnomAD
rs781392351	p.Pro34Ser	missense variant	-	NC_000011.10:g.67635171G>A	ExAC,gnomAD
rs1235439126	p.Pro36Leu	missense variant	-	NC_000011.10:g.67635164G>A	gnomAD
rs771097716	p.Ser37Pro	missense variant	-	NC_000011.10:g.67635162A>G	ExAC,TOPMed,gnomAD
rs1372667825	p.Cys40Trp	missense variant	-	NC_000011.10:g.67635151G>C	gnomAD
rs747111140	p.Cys40Tyr	missense variant	-	NC_000011.10:g.67635152C>T	ExAC,gnomAD
rs758475508	p.Ser42Thr	missense variant	-	NC_000011.10:g.67635146C>G	ExAC,TOPMed,gnomAD
rs780031766	p.Ser42Arg	missense variant	-	NC_000011.10:g.67635145G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser43Pro	missense variant	-	NC_000011.10:g.67635144A>G	NCI-TCGA
rs750176680	p.Ala46Gly	missense variant	-	NC_000011.10:g.67635134G>C	ExAC,TOPMed,gnomAD
rs750176680	p.Ala46Val	missense variant	-	NC_000011.10:g.67635134G>A	ExAC,TOPMed,gnomAD
rs375222437	p.Gln47Glu	missense variant	-	NC_000011.10:g.67635132G>C	ESP,TOPMed,gnomAD
rs767313064	p.Gln47His	missense variant	-	NC_000011.10:g.67635130T>A	ExAC,TOPMed,gnomAD
rs535361513	p.Ala48Val	missense variant	-	NC_000011.10:g.67635128G>A	ExAC,gnomAD
rs1183259339	p.Ala50Thr	missense variant	-	NC_000011.10:g.67635123C>T	gnomAD
rs372244845	p.Glu51Gln	missense variant	-	NC_000011.10:g.67635120C>G	ESP,ExAC,TOPMed,gnomAD
rs372244845	p.Glu51Lys	missense variant	-	NC_000011.10:g.67635120C>T	ESP,ExAC,TOPMed,gnomAD
rs776931059	p.Pro52His	missense variant	-	NC_000011.10:g.67635116G>T	ExAC,gnomAD
rs147388176	p.Pro52Ala	missense variant	-	NC_000011.10:g.67635117G>C	ESP,ExAC,TOPMed,gnomAD
rs147388176	p.Pro52Thr	missense variant	-	NC_000011.10:g.67635117G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro52Ser	missense variant	-	NC_000011.10:g.67635117G>A	NCI-TCGA
rs771261236	p.Thr53Ala	missense variant	-	NC_000011.10:g.67635114T>C	ExAC,TOPMed,gnomAD
rs1406563400	p.Thr53Ile	missense variant	-	NC_000011.10:g.67635113G>A	TOPMed
rs778052982	p.Pro57Ser	missense variant	-	NC_000011.10:g.67635102G>A	ExAC,TOPMed,gnomAD
rs772103440	p.Lys58Asn	missense variant	-	NC_000011.10:g.67635097C>A	ExAC,gnomAD
rs748202526	p.Asn59Lys	missense variant	-	NC_000011.10:g.67635094G>T	ExAC,TOPMed,gnomAD
rs140320420	p.Arg61His	missense variant	-	NC_000011.10:g.67635089C>T	ESP,ExAC,TOPMed,gnomAD
rs779864791	p.Arg61Cys	missense variant	-	NC_000011.10:g.67635090G>A	ExAC,TOPMed,gnomAD
rs779864791	p.Arg61Ser	missense variant	-	NC_000011.10:g.67635090G>T	ExAC,TOPMed,gnomAD
rs750268772	p.Val62Met	missense variant	-	NC_000011.10:g.67635087C>T	ExAC,gnomAD
rs750268772	p.Val62Met	missense variant	-	NC_000011.10:g.67635087C>T	NCI-TCGA
rs1279067255	p.Ser63Ala	missense variant	-	NC_000011.10:g.67635084A>C	TOPMed
rs781185047	p.Arg64Thr	missense variant	-	NC_000011.10:g.67635080C>G	ExAC,gnomAD
rs781185047	p.Arg64Thr	missense variant	-	NC_000011.10:g.67635080C>G	NCI-TCGA
rs757110668	p.Val65Met	missense variant	-	NC_000011.10:g.67635078C>T	ExAC,TOPMed,gnomAD
rs757110668	p.Val65Leu	missense variant	-	NC_000011.10:g.67635078C>G	ExAC,TOPMed,gnomAD
rs757110668	p.Val65Leu	missense variant	-	NC_000011.10:g.67635078C>A	ExAC,TOPMed,gnomAD
rs757110668	p.Val65Met	missense variant	-	NC_000011.10:g.67635078C>T	NCI-TCGA Cosmic
COSM1288372	p.Met71Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67635058C>T	NCI-TCGA Cosmic
rs765685278	p.Pro73Arg	missense variant	-	NC_000011.10:g.67635053G>C	ExAC,TOPMed,gnomAD
rs765685278	p.Pro73Leu	missense variant	-	NC_000011.10:g.67635053G>A	ExAC,TOPMed,gnomAD
rs760083503	p.Leu74Pro	missense variant	-	NC_000011.10:g.67635050A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu74Gln	missense variant	-	NC_000011.10:g.67635050A>T	NCI-TCGA
rs777088724	p.Glu76Lys	missense variant	-	NC_000011.10:g.67635045C>T	ExAC,gnomAD
rs766797610	p.Gln80His	missense variant	-	NC_000011.10:g.67635031C>G	ExAC,TOPMed,gnomAD
rs766797610	p.Gln80His	missense variant	-	NC_000011.10:g.67635031C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met85Ile	missense variant	-	NC_000011.10:g.67635016C>A	NCI-TCGA
rs1187870385	p.Ile86Thr	missense variant	-	NC_000011.10:g.67635014A>G	TOPMed
rs748211858	p.Val87Asp	missense variant	-	NC_000011.10:g.67635011A>T	ExAC
rs141787375	p.Val87Ile	missense variant	-	NC_000011.10:g.67635012C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr88Pro	missense variant	-	NC_000011.10:g.67635009T>G	NCI-TCGA
rs774444028	p.Ala90Val	missense variant	-	NC_000011.10:g.67635002G>A	ExAC,TOPMed,gnomAD
rs1228004931	p.Ala90Thr	missense variant	-	NC_000011.10:g.67635003C>T	gnomAD
rs1226140206	p.Arg93Thr	missense variant	-	NC_000011.10:g.67634915C>G	TOPMed,gnomAD
rs1226140206	p.Arg93Lys	missense variant	-	NC_000011.10:g.67634915C>T	TOPMed,gnomAD
rs764930595	p.Phe95Leu	missense variant	-	NC_000011.10:g.67634910A>G	ExAC,TOPMed,gnomAD
rs764930595	p.Phe95Ile	missense variant	-	NC_000011.10:g.67634910A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe95Cys	missense variant	-	NC_000011.10:g.67634909A>C	NCI-TCGA
rs768913248	p.Pro96His	missense variant	-	NC_000011.10:g.67634906G>T	ExAC,gnomAD
rs768913248	p.Pro96Arg	missense variant	-	NC_000011.10:g.67634906G>C	ExAC,gnomAD
rs749320539	p.Pro97Ala	missense variant	-	NC_000011.10:g.67634904G>C	ExAC,TOPMed,gnomAD
rs148072042	p.Pro97Arg	missense variant	-	NC_000011.10:g.67634903G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148072042	p.Pro97Leu	missense variant	-	NC_000011.10:g.67634903G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749320539	p.Pro97Thr	missense variant	-	NC_000011.10:g.67634904G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro97Ser	missense variant	-	NC_000011.10:g.67634904G>A	NCI-TCGA
rs148072042	p.Pro97His	missense variant	-	NC_000011.10:g.67634903G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748952707	p.Phe98LeuPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.67634901_67634902insG	NCI-TCGA
rs754507706	p.Phe98SerPheSerTerUnk	frameshift	-	NC_000011.10:g.67634902G>-	NCI-TCGA,NCI-TCGA Cosmic
rs1269320591	p.Gln99Glu	missense variant	-	NC_000011.10:g.67634898G>C	TOPMed
rs3758938	p.Lys101Met	missense variant	-	NC_000011.10:g.67634891T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs3758938	p.Lys101Thr	missense variant	-	NC_000011.10:g.67634891T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys101Glu	missense variant	-	NC_000011.10:g.67634892T>C	NCI-TCGA
rs754498811	p.Ile102Phe	missense variant	-	NC_000011.10:g.67634889T>A	ExAC,gnomAD
rs753279467	p.Ile102Met	missense variant	-	NC_000011.10:g.67634887G>C	ExAC,gnomAD
rs1477087870	p.Gly104Cys	missense variant	-	NC_000011.10:g.67634883C>A	gnomAD
rs780570867	p.Asp106Tyr	missense variant	-	NC_000011.10:g.67634877C>A	ExAC,gnomAD
rs1223587182	p.Asp106Glu	missense variant	-	NC_000011.10:g.67634875G>C	gnomAD
rs138854653	p.Ser107Tyr	missense variant	-	NC_000011.10:g.67634873G>T	ESP,ExAC,TOPMed,gnomAD
rs941791429	p.Ala109Gly	missense variant	-	NC_000011.10:g.67634867G>C	TOPMed
rs767968201	p.Asp110Asn	missense variant	-	NC_000011.10:g.67634865C>T	ExAC,TOPMed,gnomAD
rs1344145077	p.Asp110Ala	missense variant	-	NC_000011.10:g.67634864T>G	gnomAD
rs117056541	p.Tyr111His	missense variant	-	NC_000011.10:g.67634862A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs117056541	p.Tyr111Asn	missense variant	-	NC_000011.10:g.67634862A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs764342091	p.Tyr111Ser	missense variant	-	NC_000011.10:g.67634861T>G	ExAC,gnomAD
rs775659044	p.Ala112Thr	missense variant	-	NC_000011.10:g.67634859C>T	ExAC,TOPMed,gnomAD
rs1349522929	p.Met115Val	missense variant	-	NC_000011.10:g.67634850T>C	TOPMed,gnomAD
rs1306513866	p.Asp116Gly	missense variant	-	NC_000011.10:g.67634846T>C	gnomAD
rs141184933	p.Asp116Asn	missense variant	-	NC_000011.10:g.67634847C>T	ESP
rs1432017875	p.Ile118Met	missense variant	-	NC_000011.10:g.67634839G>C	gnomAD
rs1171723832	p.Ile118Leu	missense variant	-	NC_000011.10:g.67634841T>G	TOPMed
COSM3452360	p.Pro119Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67634837G>A	NCI-TCGA Cosmic
rs1355564086	p.Leu120Pro	missense variant	-	NC_000011.10:g.67634834A>G	gnomAD
rs1394008173	p.Asp121Gly	missense variant	-	NC_000011.10:g.67634831T>C	TOPMed
rs138224804	p.Asp122Asn	missense variant	-	NC_000011.10:g.67634829C>T	ESP,ExAC,TOPMed,gnomAD
rs138224804	p.Asp122His	missense variant	-	NC_000011.10:g.67634829C>G	ESP,ExAC,TOPMed,gnomAD
rs1200382257	p.Tyr125His	missense variant	-	NC_000011.10:g.67634820A>G	gnomAD
rs150470556	p.Arg126Ser	missense variant	-	NC_000011.10:g.67634360C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg126Met	missense variant	-	NC_000011.10:g.67634816C>A	NCI-TCGA
rs748984001	p.Ala128Gly	missense variant	-	NC_000011.10:g.67634355G>C	ExAC,gnomAD
rs1226970175	p.Ala128Thr	missense variant	-	NC_000011.10:g.67634356C>T	gnomAD
rs1434461029	p.Phe129Ser	missense variant	-	NC_000011.10:g.67634352A>G	gnomAD
rs1386599245	p.His130Arg	missense variant	-	NC_000011.10:g.67634349T>C	gnomAD
rs140602591	p.His130Gln	missense variant	-	NC_000011.10:g.67634348G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser131Asn	missense variant	-	NC_000011.10:g.67634346C>T	NCI-TCGA
rs745305858	p.Ser132Leu	missense variant	-	NC_000011.10:g.67634343G>A	ExAC,gnomAD
rs757652441	p.Trp134Ser	missense variant	-	NC_000011.10:g.67634337C>G	ExAC,TOPMed,gnomAD
rs1361745253	p.Trp134Arg	missense variant	-	NC_000011.10:g.67634338A>G	TOPMed
rs1280408355	p.Leu135Pro	missense variant	-	NC_000011.10:g.67634334A>G	TOPMed
rs778321159	p.Ala137Val	missense variant	-	NC_000011.10:g.67634328G>A	ExAC,gnomAD
rs753024376	p.Gly138Cys	missense variant	-	NC_000011.10:g.67634326C>A	ExAC,gnomAD
rs753024376	p.Gly138Ser	missense variant	-	NC_000011.10:g.67634326C>T	ExAC,gnomAD
rs765317926	p.Gly138Asp	missense variant	-	NC_000011.10:g.67634325C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro142Gln	missense variant	-	NC_000011.10:g.67634313G>T	NCI-TCGA
rs755090677	p.Ala143Gly	missense variant	-	NC_000011.10:g.67634310G>C	ExAC,gnomAD
rs753822108	p.Thr144Ile	missense variant	-	NC_000011.10:g.67634307G>A	ExAC,gnomAD
rs767513849	p.Pro145Ala	missense variant	-	NC_000011.10:g.67634305G>C	ExAC,TOPMed,gnomAD
rs1362124936	p.Gly146Ser	missense variant	-	NC_000011.10:g.67634302C>T	TOPMed,gnomAD
rs1316311987	p.Arg147Cys	missense variant	-	NC_000011.10:g.67634299G>A	TOPMed,gnomAD
rs372763899	p.Arg147His	missense variant	-	NC_000011.10:g.67634298C>T	ESP,ExAC,TOPMed,gnomAD
rs1316311987	p.Arg147Ser	missense variant	-	NC_000011.10:g.67634299G>T	TOPMed,gnomAD
rs763946525	p.Val148Met	missense variant	-	NC_000011.10:g.67634296C>T	ExAC,TOPMed,gnomAD
rs1297768745	p.Phe150Leu	missense variant	-	NC_000011.10:g.67634288G>T	gnomAD
rs762726021	p.Pro152His	missense variant	-	NC_000011.10:g.67634283G>T	ExAC,gnomAD
rs1382856153	p.Pro152Ser	missense variant	-	NC_000011.10:g.67634284G>A	gnomAD
rs769289032	p.Asp153Asn	missense variant	-	NC_000011.10:g.67634281C>T	ExAC,TOPMed,gnomAD
rs745402649	p.Asp153Glu	missense variant	-	NC_000011.10:g.67634279G>T	ExAC,gnomAD
rs866905136	p.Ser154Leu	missense variant	-	NC_000011.10:g.67634277G>A	TOPMed,gnomAD
rs776051019	p.Pro155Thr	missense variant	-	NC_000011.10:g.67634275G>T	ExAC,gnomAD
rs770442625	p.Lys157Asn	missense variant	-	NC_000011.10:g.67634267C>G	ExAC,gnomAD
rs1466046396	p.Gly158Arg	missense variant	-	NC_000011.10:g.67634266C>G	gnomAD
rs1194625824	p.Gly158Asp	missense variant	-	NC_000011.10:g.67634265C>T	gnomAD
rs747586701	p.Ala159Thr	missense variant	-	NC_000011.10:g.67634263C>T	ExAC,gnomAD
rs778409069	p.Trp161Arg	missense variant	-	NC_000011.10:g.67634257A>G	ExAC,gnomAD
rs1207744821	p.Trp161Ter	stop gained	-	NC_000011.10:g.67634256C>T	gnomAD
COSM3452358	p.Trp161Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.67634255C>T	NCI-TCGA Cosmic
rs1037555333	p.Met162Ile	missense variant	-	NC_000011.10:g.67634252C>T	TOPMed,gnomAD
rs151337371	p.Arg163His	missense variant	-	NC_000011.10:g.67634250C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200089316	p.Arg163Ser	missense variant	-	NC_000011.10:g.67634251G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200089316	p.Arg163Cys	missense variant	-	NC_000011.10:g.67634251G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln164Ter	stop gained	-	NC_000011.10:g.67634248G>A	NCI-TCGA
rs1279487198	p.Ile165Val	missense variant	-	NC_000011.10:g.67634245T>C	gnomAD
rs142397323	p.Ile165Thr	missense variant	-	NC_000011.10:g.67634244A>G	ESP
rs1166185399	p.Val166Ala	missense variant	-	NC_000011.10:g.67634241A>G	TOPMed
rs1048651238	p.Ser167Phe	missense variant	-	NC_000011.10:g.67634238G>A	-
NCI-TCGA novel	p.Ser167Tyr	missense variant	-	NC_000011.10:g.67634238G>T	NCI-TCGA
rs142569144	p.Phe168Ser	missense variant	-	NC_000011.10:g.67634235A>G	ESP,ExAC,TOPMed,gnomAD
rs1220985383	p.Phe168Leu	missense variant	-	NC_000011.10:g.67634236A>G	gnomAD
rs754069888	p.Leu171Phe	missense variant	-	NC_000011.10:g.67634227G>A	ExAC,gnomAD
rs756186418	p.Leu178Pro	missense variant	-	NC_000011.10:g.67634205A>G	ExAC,TOPMed,gnomAD
rs766413146	p.Leu178Met	missense variant	-	NC_000011.10:g.67634206G>T	ExAC,gnomAD
rs751557584	p.Asp179Asn	missense variant	-	NC_000011.10:g.67634203C>T	ExAC,gnomAD
COSM931147	p.Asp180Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67634200C>T	NCI-TCGA Cosmic
rs763964938	p.Gly182Ser	missense variant	-	NC_000011.10:g.67634194C>T	ExAC,gnomAD
rs117709265	p.His183Gln	missense variant	-	NC_000011.10:g.67634189G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs60988467	p.Leu186Val	missense variant	-	NC_000011.10:g.67633097G>C	TOPMed
rs60988467	p.Leu186Phe	missense variant	-	NC_000011.10:g.67633097G>A	TOPMed
rs781286657	p.Asn187Ser	missense variant	-	NC_000011.10:g.67633093T>C	ExAC,gnomAD
COSM931146	p.Ser188Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67633090G>A	NCI-TCGA Cosmic
rs778852098	p.His190Tyr	missense variant	-	NC_000011.10:g.67633085G>A	ExAC,gnomAD
COSM4036048	p.His190Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67633084T>C	NCI-TCGA Cosmic
rs143869780	p.Arg191His	missense variant	-	NC_000011.10:g.67633081C>T	ESP,ExAC,TOPMed,gnomAD
rs1409753248	p.Arg191Cys	missense variant	-	NC_000011.10:g.67633082G>A	gnomAD
rs1472682486	p.Tyr192His	missense variant	-	NC_000011.10:g.67633079A>G	gnomAD
rs753627508	p.Tyr192Ter	stop gained	-	NC_000011.10:g.67633077G>T	ExAC,gnomAD
rs527312583	p.Arg195Leu	missense variant	-	NC_000011.10:g.67633069C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs527312583	p.Arg195His	missense variant	-	NC_000011.10:g.67633069C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs766153206	p.Arg195Cys	missense variant	-	NC_000011.10:g.67633070G>A	ExAC,TOPMed,gnomAD
rs1247439459	p.His197Gln	missense variant	-	NC_000011.10:g.67633062G>C	gnomAD
rs774736258	p.Val198Ala	missense variant	-	NC_000011.10:g.67633060A>G	ExAC,TOPMed,gnomAD
rs774736258	p.Val198Gly	missense variant	-	NC_000011.10:g.67633060A>C	ExAC,TOPMed,gnomAD
rs535008516	p.Val198Met	missense variant	-	NC_000011.10:g.67633061C>T	ExAC,TOPMed,gnomAD
rs769143358	p.Val199Phe	missense variant	-	NC_000011.10:g.67633058C>A	ExAC,TOPMed,gnomAD
rs149888346	p.Phe200Leu	missense variant	-	NC_000011.10:g.67633053G>C	ESP,TOPMed,gnomAD
rs376880264	p.Val201Leu	missense variant	-	NC_000011.10:g.67633052C>A	ESP,ExAC,TOPMed,gnomAD
rs376880264	p.Val201Met	missense variant	-	NC_000011.10:g.67633052C>T	ESP,ExAC,TOPMed,gnomAD
rs746151250	p.Asp202His	missense variant	-	NC_000011.10:g.67633049C>G	ExAC,gnomAD
rs776820074	p.Asp202Glu	missense variant	-	NC_000011.10:g.67633047G>T	ExAC,TOPMed,gnomAD
rs1379520205	p.Asp202Ala	missense variant	-	NC_000011.10:g.67633048T>G	gnomAD
rs375584058	p.Pro203Ser	missense variant	-	NC_000011.10:g.67633046G>A	ESP,TOPMed
rs200918283	p.Arg204Ser	missense variant	-	NC_000011.10:g.67633043G>T	ESP,ExAC,TOPMed,gnomAD
rs200918283	p.Arg204Cys	missense variant	-	NC_000011.10:g.67633043G>A	ESP,ExAC,TOPMed,gnomAD
rs139191413	p.Arg204His	missense variant	-	NC_000011.10:g.67633042C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1216261036	p.Ser207Asn	missense variant	-	NC_000011.10:g.67633033C>T	TOPMed
rs754897139	p.Glu208Ala	missense variant	-	NC_000011.10:g.67633030T>G	ExAC,gnomAD
rs778745305	p.Glu208Lys	missense variant	-	NC_000011.10:g.67633031C>T	ExAC,gnomAD
rs780037338	p.Arg209His	missense variant	-	NC_000011.10:g.67633027C>T	ExAC,TOPMed,gnomAD
rs780037338	p.Arg209Pro	missense variant	-	NC_000011.10:g.67633027C>G	ExAC,TOPMed,gnomAD
rs150805271	p.Arg209Cys	missense variant	-	NC_000011.10:g.67633028G>A	ESP,ExAC,TOPMed,gnomAD
rs1165885671	p.Tyr210Ter	stop gained	-	NC_000011.10:g.67633023A>C	gnomAD
rs920985945	p.Tyr210Cys	missense variant	-	NC_000011.10:g.67633024T>C	TOPMed,gnomAD
rs755971155	p.Ala211Thr	missense variant	-	NC_000011.10:g.67633022C>T	ExAC,TOPMed,gnomAD
rs1390103911	p.Gln212Ter	stop gained	-	NC_000011.10:g.67633019G>A	gnomAD
NCI-TCGA novel	p.Glu213Asp	missense variant	-	NC_000011.10:g.67633014C>A	NCI-TCGA
COSM3452356	p.Glu213Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67633016C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe215Ser	missense variant	-	NC_000011.10:g.67633009A>G	NCI-TCGA
rs201886785	p.Ser217Thr	missense variant	-	NC_000011.10:g.67633004A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767223205	p.Phe218Ile	missense variant	-	NC_000011.10:g.67633001A>T	ExAC,gnomAD
rs1361725531	p.Ile219Asn	missense variant	-	NC_000011.10:g.67632997A>T	TOPMed
rs763486594	p.Glu222Asp	missense variant	-	NC_000011.10:g.67632987C>G	ExAC,TOPMed,gnomAD
rs777113959	p.Glu222Lys	missense variant	-	NC_000011.10:g.67632989C>T	ExAC,TOPMed,gnomAD
rs777113959	p.Glu222Gln	missense variant	-	NC_000011.10:g.67632989C>G	ExAC,TOPMed,gnomAD
COSM1356460	p.Glu222Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67632987C>A	NCI-TCGA Cosmic
rs763551553	p.Thr223Ser	missense variant	-	NC_000011.10:g.67632985G>C	ExAC,TOPMed,gnomAD
rs763551553	p.Thr223Asn	missense variant	-	NC_000011.10:g.67632985G>T	ExAC,TOPMed,gnomAD
rs775968608	p.Gln224Ter	stop gained	-	NC_000011.10:g.67632983G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val228Leu	missense variant	-	NC_000011.10:g.67632971C>G	NCI-TCGA
rs776841060	p.Tyr231Ter	stop gained	-	NC_000011.10:g.67632960A>C	ExAC,gnomAD
rs771143635	p.Gln232Leu	missense variant	-	NC_000011.10:g.67632958T>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu239AlaPheSerTerUnk	frameshift	-	NC_000011.10:g.67632661_67632662insGC	NCI-TCGA
rs554161959	p.Ala242Thr	missense variant	-	NC_000011.10:g.67632652C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1175295384	p.Asn244Asp	missense variant	-	NC_000011.10:g.67632646T>C	gnomAD
rs1481536122	p.Pro245Ala	missense variant	-	NC_000011.10:g.67632643G>C	gnomAD
rs1489787800	p.Pro245Arg	missense variant	-	NC_000011.10:g.67632642G>C	TOPMed
COSM3986413	p.Pro245Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67632642G>A	NCI-TCGA Cosmic
rs1202466876	p.Phe246Leu	missense variant	-	NC_000011.10:g.67632640A>G	gnomAD
rs1224323648	p.Phe246Ser	missense variant	-	NC_000011.10:g.67632639A>G	TOPMed
rs781077286	p.Ala247Val	missense variant	-	NC_000011.10:g.67632636G>A	ExAC,TOPMed,gnomAD
rs770623718	p.Gly249Val	missense variant	-	NC_000011.10:g.67632630C>A	ExAC,TOPMed,gnomAD
rs777229978	p.Phe250Cys	missense variant	-	NC_000011.10:g.67632627A>C	ExAC,gnomAD
rs757906992	p.Arg251Lys	missense variant	-	NC_000011.10:g.67632624C>T	ExAC,TOPMed,gnomAD
rs1374616166	p.Glu252Gly	missense variant	-	NC_000011.10:g.67632621T>C	gnomAD
rs375630299	p.Glu252Asp	missense variant	-	NC_000011.10:g.67632620C>G	ESP,ExAC,TOPMed,gnomAD
rs1292812751	p.Asp254Glu	missense variant	-	NC_000011.10:g.67632614G>T	gnomAD
rs755527687	p.Asp254Ala	missense variant	-	NC_000011.10:g.67632615T>G	ExAC,gnomAD
rs754312781	p.Leu255Val	missense variant	-	NC_000011.10:g.67632613G>C	ExAC,gnomAD
NCI-TCGA novel	p.Trp258Arg	missense variant	-	NC_000011.10:g.67632604A>T	NCI-TCGA
NCI-TCGA novel	p.Pro259Thr	missense variant	-	NC_000011.10:g.67632411G>T	NCI-TCGA
rs1187940468	p.Val260Met	missense variant	-	NC_000011.10:g.67632408C>T	TOPMed,gnomAD
rs751823266	p.Ala261Ser	missense variant	-	NC_000011.10:g.67632405C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro262Ala	missense variant	-	NC_000011.10:g.67632402G>C	NCI-TCGA
rs189317053	p.Arg263Gln	missense variant	-	NC_000011.10:g.67632398C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs369773006	p.Arg263Trp	missense variant	-	NC_000011.10:g.67632399G>A	ESP,ExAC,TOPMed,gnomAD
rs1023842457	p.Pro264Arg	missense variant	-	NC_000011.10:g.67632395G>C	TOPMed
NCI-TCGA novel	p.Pro264Leu	missense variant	-	NC_000011.10:g.67632395G>A	NCI-TCGA
rs776632977	p.Pro264Ser	missense variant	-	NC_000011.10:g.67632396G>A	ExAC,TOPMed,gnomAD
rs766186087	p.Leu265Arg	missense variant	-	NC_000011.10:g.67632392A>C	ExAC,gnomAD
rs1403861985	p.Leu266His	missense variant	-	NC_000011.10:g.67632389A>T	TOPMed
rs760539643	p.Ala270Gly	missense variant	-	NC_000011.10:g.67632377G>C	ExAC,TOPMed,gnomAD
rs760539643	p.Ala270Asp	missense variant	-	NC_000011.10:g.67632377G>T	ExAC,TOPMed,gnomAD
rs146079895	p.Arg271Gln	missense variant	-	NC_000011.10:g.67632374C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772929837	p.Arg271Trp	missense variant	-	NC_000011.10:g.67632375G>A	ExAC,TOPMed,gnomAD
rs1439751475	p.Ser272Asn	missense variant	-	NC_000011.10:g.67632371C>T	TOPMed
rs1280933393	p.His273Gln	missense variant	-	NC_000011.10:g.67632367G>T	TOPMed
rs1222396541	p.Ser274Asn	missense variant	-	NC_000011.10:g.67632365C>T	TOPMed
rs1046827606	p.Ser274Gly	missense variant	-	NC_000011.10:g.67632366T>C	TOPMed
rs1402887667	p.Leu276Arg	missense variant	-	NC_000011.10:g.67632359A>C	gnomAD
rs768169731	p.Ser277Thr	missense variant	-	NC_000011.10:g.67632356C>G	ExAC,TOPMed,gnomAD
rs1164210301	p.Pro278His	missense variant	-	NC_000011.10:g.67632353G>T	gnomAD
COSM3452355	p.Pro278Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67632353G>A	NCI-TCGA Cosmic
rs1325044068	p.Val280Ala	missense variant	-	NC_000011.10:g.67632347A>G	TOPMed
rs748681826	p.Leu281Arg	missense variant	-	NC_000011.10:g.67632344A>C	ExAC,gnomAD
COSM3452354	p.Gly283Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67632339C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala284Val	missense variant	-	NC_000011.10:g.67632335G>A	NCI-TCGA
rs1204922419	p.Asp286Asn	missense variant	-	NC_000011.10:g.67632330C>T	TOPMed
NCI-TCGA novel	p.Asp286Tyr	missense variant	-	NC_000011.10:g.67632330C>A	NCI-TCGA
rs746367221	p.Arg287Trp	missense variant	-	NC_000011.10:g.67632327T>A	ExAC,TOPMed,gnomAD
rs1197694579	p.Glu288Lys	missense variant	-	NC_000011.10:g.67632324C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Lys289Asn	missense variant	-	NC_000011.10:g.67632319T>G	NCI-TCGA
rs757678642	p.Asp290Asn	missense variant	-	NC_000011.10:g.67632318C>T	ExAC,gnomAD
rs746415369	p.Asn292Lys	missense variant	-	NC_000011.10:g.67631887G>C	ExAC,TOPMed,gnomAD
rs1446838523	p.Asn292His	missense variant	-	NC_000011.10:g.67631889T>G	gnomAD
rs746415369	p.Asn292Lys	missense variant	-	NC_000011.10:g.67631887G>T	ExAC,TOPMed,gnomAD
rs769321117	p.Asn292Ser	missense variant	-	NC_000011.10:g.67631888T>C	ExAC,gnomAD
rs1305148738	p.Ala294Thr	missense variant	-	NC_000011.10:g.67631883C>T	TOPMed
rs186569241	p.Ala296Val	missense variant	-	NC_000011.10:g.67631876G>A	1000Genomes,TOPMed,gnomAD
rs1470727292	p.Ala296Thr	missense variant	-	NC_000011.10:g.67631877C>T	gnomAD
rs1388199521	p.Ser297Phe	missense variant	-	NC_000011.10:g.67631873G>A	gnomAD
rs757697215	p.Lys300Asn	missense variant	-	NC_000011.10:g.67631863C>G	ExAC,TOPMed,gnomAD
rs868037507	p.Thr301Ile	missense variant	-	NC_000011.10:g.67631861G>A	TOPMed,gnomAD
rs868037507	p.Thr301Asn	missense variant	-	NC_000011.10:g.67631861G>T	TOPMed,gnomAD
rs1241304488	p.Pro302Leu	missense variant	-	NC_000011.10:g.67631858G>A	gnomAD
rs1205686295	p.Trp304Ter	stop gained	-	NC_000011.10:g.67631851C>T	TOPMed,gnomAD
rs1205686295	p.Trp304Cys	missense variant	-	NC_000011.10:g.67631851C>G	TOPMed,gnomAD
rs374679098	p.Leu305Arg	missense variant	-	NC_000011.10:g.67631849A>C	ESP,ExAC,TOPMed,gnomAD
rs1461897006	p.Leu305Phe	missense variant	-	NC_000011.10:g.67631850G>A	TOPMed,gnomAD
COSM3810229	p.Gln308Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.67631841G>A	NCI-TCGA Cosmic
rs758596700	p.Pro311His	missense variant	-	NC_000011.10:g.67631831G>T	ExAC,TOPMed,gnomAD
rs1262394975	p.Pro311Ser	missense variant	-	NC_000011.10:g.67631832G>A	gnomAD
rs758596700	p.Pro311Leu	missense variant	-	NC_000011.10:g.67631831G>A	ExAC,TOPMed,gnomAD
rs372881982	p.Pro312Gln	missense variant	-	NC_000011.10:g.67631828G>T	ESP,TOPMed
rs372881982	p.Pro312Leu	missense variant	-	NC_000011.10:g.67631828G>A	ESP,TOPMed
rs369161057	p.Pro313His	missense variant	-	NC_000011.10:g.67631825G>T	ESP,ExAC,TOPMed,gnomAD
rs369161057	p.Pro313Arg	missense variant	-	NC_000011.10:g.67631825G>C	ESP,ExAC,TOPMed,gnomAD
rs755072160	p.Val315Ile	missense variant	-	NC_000011.10:g.67631820C>T	ExAC,gnomAD
rs755072160	p.Val315Phe	missense variant	-	NC_000011.10:g.67631820C>A	ExAC,gnomAD
rs1340689164	p.Leu316Met	missense variant	-	NC_000011.10:g.67631817G>T	gnomAD
rs1387658333	p.Ala318Val	missense variant	-	NC_000011.10:g.67631810G>A	gnomAD
rs761628835	p.Pro319Ser	missense variant	-	NC_000011.10:g.67631808G>A	ExAC,gnomAD
rs1383931306	p.Pro319Leu	missense variant	-	NC_000011.10:g.67631807G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Pro319ArgPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.67631807G>-	NCI-TCGA
rs763930638	p.Tyr322Ter	stop gained	-	NC_000011.10:g.67631797G>T	ExAC,gnomAD
rs1473204102	p.Tyr322Cys	missense variant	-	NC_000011.10:g.67631798T>C	gnomAD
rs1198227500	p.Tyr322His	missense variant	-	NC_000011.10:g.67631799A>G	gnomAD
rs763930638	p.Tyr322Ter	stop gained	-	NC_000011.10:g.67631797G>C	ExAC,gnomAD
rs762557472	p.Arg323Thr	missense variant	-	NC_000011.10:g.67631795C>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro324Leu	missense variant	-	NC_000011.10:g.67631792G>A	NCI-TCGA
rs531906539	p.Thr326Lys	missense variant	-	NC_000011.10:g.67631786G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs531906539	p.Thr326Met	missense variant	-	NC_000011.10:g.67631786G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs771514015	p.Gln328His	missense variant	-	NC_000011.10:g.67631779C>A	ExAC,gnomAD
rs771514015	p.Gln328His	missense variant	-	NC_000011.10:g.67631779C>G	ExAC,gnomAD
rs747494980	p.Ser329Asn	missense variant	-	NC_000011.10:g.67631777C>T	ExAC,gnomAD
rs772479926	p.Tyr331Cys	missense variant	-	NC_000011.10:g.67631771T>C	ExAC,gnomAD
rs753876539	p.Pro335Arg	missense variant	-	NC_000011.10:g.67631759G>C	ExAC,TOPMed,gnomAD
rs755019737	p.Pro335Ser	missense variant	-	NC_000011.10:g.67631760G>A	ExAC,TOPMed,gnomAD
rs753876539	p.Pro335Leu	missense variant	-	NC_000011.10:g.67631759G>A	ExAC,TOPMed,gnomAD
rs755019737	p.Pro335Ala	missense variant	-	NC_000011.10:g.67631760G>C	ExAC,TOPMed,gnomAD
rs781132994	p.Ser336Arg	missense variant	-	NC_000011.10:g.67631755G>T	ExAC,TOPMed,gnomAD
rs912442180	p.Ser336Asn	missense variant	-	NC_000011.10:g.67631756C>T	TOPMed
rs1312654155	p.His337Tyr	missense variant	-	NC_000011.10:g.67631754G>A	TOPMed
COSM3452352	p.Gly339Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67631748C>T	NCI-TCGA Cosmic
rs1249446982	p.Ile340Ser	missense variant	-	NC_000011.10:g.67631744A>C	TOPMed
rs763866445	p.Arg342Ser	missense variant	-	NC_000011.10:g.67631737C>A	ExAC,TOPMed,gnomAD
rs751471550	p.Arg342Lys	missense variant	-	NC_000011.10:g.67631738C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg342Trp	missense variant	-	NC_000011.10:g.67631739T>A	NCI-TCGA
NCI-TCGA novel	p.Arg342Met	missense variant	-	NC_000011.10:g.67631738C>A	NCI-TCGA
rs1254953072	p.Thr343Ile	missense variant	-	NC_000011.10:g.67631735G>A	TOPMed,gnomAD
rs1194103885	p.Arg344Gln	missense variant	-	NC_000011.10:g.67631732C>T	TOPMed,gnomAD
rs762746844	p.Arg344Ter	stop gained	-	NC_000011.10:g.67631733G>A	ExAC,gnomAD
rs201389909	p.Pro345Arg	missense variant	-	NC_000011.10:g.67631729G>C	ExAC,TOPMed,gnomAD
rs1426519113	p.Ala346Val	missense variant	-	NC_000011.10:g.67631726G>A	TOPMed
rs370073114	p.Tyr348Ter	stop gained	-	NC_000011.10:g.67631719G>T	ESP,TOPMed,gnomAD
rs1266652801	p.Tyr348Phe	missense variant	-	NC_000011.10:g.67631720T>A	TOPMed,gnomAD
rs1266652801	p.Tyr348Ser	missense variant	-	NC_000011.10:g.67631720T>G	TOPMed,gnomAD
rs370073114	p.Tyr348Ter	stop gained	-	NC_000011.10:g.67631719G>C	ESP,TOPMed,gnomAD
rs1434101537	p.Pro349Thr	missense variant	-	NC_000011.10:g.67631718G>T	gnomAD
rs1271631805	p.Leu350Pro	missense variant	-	NC_000011.10:g.67631714A>G	gnomAD
rs1430802895	p.Leu350Phe	missense variant	-	NC_000011.10:g.67631715G>A	TOPMed
rs1340970154	p.Pro351Ser	missense variant	-	NC_000011.10:g.67631712G>A	gnomAD
rs951281990	p.Pro351Leu	missense variant	-	NC_000011.10:g.67631711G>A	TOPMed
rs951281990	p.Pro351Arg	missense variant	-	NC_000011.10:g.67631711G>C	TOPMed
rs199538876	p.Asn352Ser	missense variant	-	NC_000011.10:g.67631708T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs199538876	p.Asn352Thr	missense variant	-	NC_000011.10:g.67631708T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1223247342	p.Ile353Thr	missense variant	-	NC_000011.10:g.67631705A>G	gnomAD
rs146672518	p.Arg354Pro	missense variant	-	NC_000011.10:g.67631702C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146672518	p.Arg354Gln	missense variant	-	NC_000011.10:g.67631702C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770532769	p.Arg354Trp	missense variant	-	NC_000011.10:g.67631703G>A	ExAC,TOPMed,gnomAD
rs1437753986	p.Ala355Val	missense variant	-	NC_000011.10:g.67631699G>A	gnomAD
rs1354466041	p.Asp356Asn	missense variant	-	NC_000011.10:g.67631697C>T	gnomAD
rs1326866112	p.Asp356Gly	missense variant	-	NC_000011.10:g.67631696T>C	gnomAD
rs267603142	p.Asp358Asn	missense variant	-	NC_000011.10:g.67631691C>T	gnomAD
rs267603142	p.Asp358His	missense variant	-	NC_000011.10:g.67631691C>G	gnomAD
rs1424604904	p.Gln359Lys	missense variant	-	NC_000011.10:g.67631688G>T	gnomAD
rs1176034466	p.Gly360Arg	missense variant	-	NC_000011.10:g.67631685C>T	gnomAD
NCI-TCGA novel	p.Gly360Ter	stop gained	-	NC_000011.10:g.67631685C>A	NCI-TCGA
rs773756575	p.Gly361Ala	missense variant	-	NC_000011.10:g.67631681C>G	ExAC,TOPMed,gnomAD
rs773756575	p.Gly361Asp	missense variant	-	NC_000011.10:g.67631681C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu362Pro	missense variant	-	NC_000011.10:g.67631678A>G	NCI-TCGA
rs962521492	p.Pro363Leu	missense variant	-	NC_000011.10:g.67631675G>A	TOPMed,gnomAD
rs962521492	p.Pro363His	missense variant	-	NC_000011.10:g.67631675G>T	TOPMed,gnomAD
COSM4036045	p.Pro365Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67631669G>A	NCI-TCGA Cosmic
rs772336874	p.Ala366Ser	missense variant	-	NC_000011.10:g.67631667C>A	ExAC,TOPMed,gnomAD
rs772336874	p.Ala366Pro	missense variant	-	NC_000011.10:g.67631667C>G	ExAC,TOPMed,gnomAD
rs1201817102	p.Gly367Arg	missense variant	-	NC_000011.10:g.67631664C>G	gnomAD
rs768875858	p.Gly369Trp	missense variant	-	NC_000011.10:g.67631658C>A	ExAC,gnomAD
rs1285508750	p.Gly369Glu	missense variant	-	NC_000011.10:g.67631657C>T	gnomAD
rs768875858	p.Gly369Arg	missense variant	-	NC_000011.10:g.67631658C>G	ExAC,gnomAD
rs1373228241	p.Pro373Leu	missense variant	-	NC_000011.10:g.67631645G>A	gnomAD
rs756186322	p.Thr374Asn	missense variant	-	NC_000011.10:g.67631642G>T	ExAC,gnomAD
rs780150971	p.Thr374Ala	missense variant	-	NC_000011.10:g.67631643T>C	ExAC
COSM4912205	p.Thr374Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67631642G>A	NCI-TCGA Cosmic
rs527776441	p.Val375Ala	missense variant	-	NC_000011.10:g.67631639A>G	1000Genomes
rs751559619	p.Val375Met	missense variant	-	NC_000011.10:g.67631640C>T	ExAC,gnomAD
rs777696017	p.Val376Ala	missense variant	-	NC_000011.10:g.67631636A>G	ExAC,gnomAD
rs758155529	p.Pro380Thr	missense variant	-	NC_000011.10:g.67631625G>T	ExAC,gnomAD
rs1177897010	p.Gln382Arg	missense variant	-	NC_000011.10:g.67631618T>C	gnomAD
rs752485816	p.Asp383His	missense variant	-	NC_000011.10:g.67631616C>G	ExAC,TOPMed,gnomAD
rs764916916	p.Ser384Tyr	missense variant	-	NC_000011.10:g.67631612G>T	ExAC,TOPMed,gnomAD
rs764916916	p.Ser384Phe	missense variant	-	NC_000011.10:g.67631612G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln385Ter	stop gained	-	NC_000011.10:g.67631610G>A	NCI-TCGA
rs753535154	p.Ter386Arg	stop lost	-	NC_000011.10:g.67631607A>G	ExAC,TOPMed,gnomAD
rs1238210918	p.Ter386Leu	stop lost	-	NC_000011.10:g.67631606C>A	gnomAD
rs753535154	p.Ter386Arg	stop lost	-	NC_000011.10:g.67631607A>T	ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0369183	Erythrocyte Mean Corpuscular Hemoglobin Test	phenotype	GWASDB
C1261502	Finding of Mean Corpuscular Hemoglobin	phenotype	GWASDB

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IBA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0001102	RNA polymerase II activating transcription factor binding	IBA
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA
GO:0001708	cell fate specification	IBA
GO:0006357	regulation of transcription by RNA polymerase II	TAS
GO:0009653	anatomical structure morphogenesis	TAS
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of TBX10 3' UTR	30157460
D001280	Atrazine	Atrazine results in increased expression of TBX10 mRNA	22378314
D001564	Benzo(a)pyrene	Benzo(a)pyrene promotes the reaction [AHR protein binds to TBX10 promoter]	19654925
D003471	Cuprizone	Cuprizone affects the expression of TBX10 mRNA	27523638
C561695	(+)-JQ1 compound	(+)-JQ1 compound affects the expression of TBX10 mRNA	26752646
C025589	ochratoxin A	ochratoxin A results in increased expression of TBX10 mRNA	30449730
D012834	Silver	Silver results in increased expression of TBX10 mRNA	27131904
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of TBX10 mRNA	20106945
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of TBX10 mRNA	21570461; 24058054;
D013750	Tetrachloroethylene	Tetrachloroethylene results in decreased expression of TBX10 mRNA	28973375
D014260	Triclosan	Triclosan results in decreased expression of TBX10 mRNA	30510588
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of TBX10 mRNA	26179874
D014635	Valproic Acid	Valproic Acid results in increased methylation of TBX10 gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of TBX10 mRNA	24896083
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of TBX10 gene	25560391

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0238	DNA-binding
KW-0539	Nucleus
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR008967	p53-like_TF_DNA-bd
IPR036960	T-box_sf
IPR001699	TF_T-box
IPR018186	TF_T-box_CS

PROSITE

PROSITE ID	PROSITE Term
PS01283	TBOX_1
PS01264	TBOX_2
PS50252	TBOX_3

Pfam

Pfam ID	Pfam Term
PF00907	T-box

Gene: TBX10

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction