CleftGeneDB-Search

Gene: TBX22

Basic information

Tag	Content
Uniprot ID	Q9Y458; Q5JZ06; Q96LC0; Q9HBF1;
Entrez ID	50945
Genbank protein ID	AAG23749.1; EAW98588.1; AAH14194.2; AAK63189.1;
Genbank nucleotide ID	NM_016954.2; NM_001109879.1; NM_001109878.1; NM_001303475.1; XM_011530972.1;
Ensembl protein ID	ENSP00000362393; ENSP00000479825; ENSP00000362390; ENSP00000487295;
Ensembl nucleotide ID	ENSG00000122145; ENSG00000277800;
Gene name	T-box transcription factor TBX22
Gene symbol	TBX22
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CPO,CL/P
Developmental stage
Data sources	Manually collected
Reference	21248356; 25918826;
Functional description	Probable transcriptional regulator involved in developmental processes. This is major determinant crucial to palatogenesis.
Sequence	MALSSRARAF SVEALVGRPS KRKLQDPIQA EQPELREKKG GEEEEERRSS AAGKSEPLEK 60 QPKTEPSTSA SSGCGSDSGY GNSSESLEEK DIQMELQGSE LWKRFHDIGT EMIITKAGRR 120 MFPSVRVKVK GLDPGKQYHV AIDVVPVDSK RYRYVYHSSQ WMVAGNTDHL CIIPRFYVHP 180 DSPCSGETWM RQIISFDRMK LTNNEMDDKG HIILQSMHKY KPRVHVIEQG SSVDLSQIQS 240 LPTEGVKTFS FKETEFTTVT AYQNQQITKL KIERNPFAKG FRDTGRNRGV LDGLLETYPW 300 RPSFTLDFKT FGADTQSGSS GSSPVTSSGG APSPLNSLLS PLCFSPMFHL PTSSLGMPCP 360 EAYLPNVNLP LCYKICPTNF WQQQPLVLPA PERLASSNSS QSLAPLMMEV PMLSSLGVTN 420 SKSGSSEDSS DQYLQAPNST NQMLYGLQSP GNIFLPNSIT PEALSCSFHP SYDFYRYNFS 480 MPSRLISGSN HLKVNDDSQV SFGEGKCNHV HWYPAINHYL

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 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

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	TBX22	100299988	G3N243			Bos taurus	Prediction	More>>
1:1 ortholog	TBX22		A0A452EVR5			Capra hircus	Prediction	More>>
1:1 ortholog	TBX22	50945	Q9Y458	CPO,CL/P		Homo sapiens	Publication	More>>
1:1 ortholog	Tbx22	245572	Q8K402	CPO	E11.5, E12.5, E14.0, E13.5, E14.5	Mus musculus	Publication	More>>
1:1 ortholog	TBX22	473683	A0A2J8KJZ2			Pan troglodytes	Prediction	More>>
1:1 ortholog			A0A4X1W2E6			Sus scrofa	Prediction	More>>
1:1 ortholog	TBX22	100341565	G1T5X7			Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Tbx22	302369	D3ZMK6			Rattus norvegicus	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
TBX22	c.376C>T; p.R126W	Genotyping	21248356
TBX22	c.452G>T; p.R151L	Genotyping	21248356
TBX22	rs7055763G>A	Genotyping	25918826
TBX22	rs41307258T>A	Genotyping	25918826
TBX22	IVS6-1G>C (heterozygous or hemizygous)	PCR and sequencing	29932961
TBX22	c.874G>A; p.D292N (hemizygous)	PCR and sequencing	29932961

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs750415957	p.Ala2Thr	missense variant	-	NC_000023.11:g.80022273G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu3Val	missense variant	-	chrX:g.80022276C>G	NCI-TCGA
rs755916335	p.Ser4Asn	missense variant	-	NC_000023.11:g.80022280G>A	ExAC,gnomAD
rs766283070	p.Ser5Tyr	missense variant	-	NC_000023.11:g.80022283C>A	ExAC,gnomAD
COSM1125767	p.Arg6Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80022285C>T	NCI-TCGA Cosmic
rs551664098	p.Arg6Pro	missense variant	-	NC_000023.11:g.80022286G>C	ExAC,gnomAD
rs551664098	p.Arg6Leu	missense variant	-	NC_000023.11:g.80022286G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala7Ser	missense variant	-	chrX:g.80022288G>T	NCI-TCGA
COSM5064903	p.Ala7Val	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80022289C>T	NCI-TCGA Cosmic
rs1450772358	p.Arg8Cys	missense variant	-	NC_000023.11:g.80022291C>T	TOPMed,gnomAD
rs915850492	p.Arg8Leu	missense variant	-	NC_000023.11:g.80022292G>T	TOPMed,gnomAD
rs1300365859	p.Phe10Ser	missense variant	-	NC_000023.11:g.80022298T>C	TOPMed,gnomAD
rs150098741	p.Ser11Thr	missense variant	-	NC_000023.11:g.80022300T>A	ESP,ExAC,TOPMed,gnomAD
rs1476956919	p.Ser11Cys	missense variant	-	NC_000023.11:g.80022301C>G	gnomAD
NCI-TCGA novel	p.Ala14Thr	missense variant	-	chrX:g.80022309G>A	NCI-TCGA
VAR_036066	p.Val16Ala	Missense	-	-	UniProt
rs1193056525	p.Gly17Trp	missense variant	-	NC_000023.11:g.80022318G>T	gnomAD
rs748304646	p.Gly17Glu	missense variant	-	NC_000023.11:g.80022319G>A	ExAC,gnomAD
rs1395804892	p.Arg18Ile	missense variant	-	NC_000023.11:g.80022322G>T	gnomAD
rs758506603	p.Pro19His	missense variant	-	NC_000023.11:g.80022325C>A	ExAC,TOPMed,gnomAD
rs758506603	p.Pro19His	missense variant	-	chrX:g.80022325C>A	NCI-TCGA,NCI-TCGA Cosmic
rs778207010	p.Ser20Ile	missense variant	-	NC_000023.11:g.80022328G>T	ExAC,gnomAD
COSM1469568	p.Lys21Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80022330A>C	NCI-TCGA Cosmic
COSM3424978	p.Lys21Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80022330A>G	NCI-TCGA Cosmic
rs771215994	p.Gln25Glu	missense variant	-	NC_000023.11:g.80022342C>G	ExAC,gnomAD
rs781665863	p.Asp26His	missense variant	-	NC_000023.11:g.80022345G>C	ExAC,gnomAD
COSM6119715	p.Pro27Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80022348C>A	NCI-TCGA Cosmic
rs148838409	p.Ile28Met	missense variant	-	NC_000023.11:g.80022353A>G	ESP,ExAC
rs768403428	p.Ala30Glu	missense variant	-	NC_000023.11:g.80022358C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala30Val	missense variant	-	chrX:g.80022358C>T	NCI-TCGA
rs768403428	p.Ala30Val	missense variant	-	NC_000023.11:g.80022358C>T	ExAC,TOPMed,gnomAD
rs761364666	p.Glu31Gln	missense variant	-	NC_000023.11:g.80022360G>C	ExAC,TOPMed,gnomAD
rs771728632	p.Leu35Gln	missense variant	-	NC_000023.11:g.80022373T>A	ExAC,gnomAD
rs917472096	p.Arg36Trp	missense variant	-	NC_000023.11:g.80022375C>T	TOPMed,gnomAD
rs1223023604	p.Arg36Gln	missense variant	-	NC_000023.11:g.80022376G>A	gnomAD
COSM4111252	p.Arg36Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80022375C>T	NCI-TCGA Cosmic
rs371055319	p.Glu37Lys	missense variant	-	NC_000023.11:g.80022378G>A	1000Genomes,ExAC,gnomAD
rs753716446	p.Lys39Met	missense variant	-	NC_000023.11:g.80022385A>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys39ArgPheSerTerUnkUnk	frameshift	-	chrX:g.80022381A>-	NCI-TCGA
NCI-TCGA novel	p.Gly41Arg	missense variant	-	chrX:g.80022390G>A	NCI-TCGA
NCI-TCGA novel	p.Gly41Val	missense variant	-	chrX:g.80022391G>T	NCI-TCGA
rs759649828	p.Glu42Lys	missense variant	-	NC_000023.11:g.80022393G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu42Asp	missense variant	-	chrX:g.80022395G>T	NCI-TCGA
rs1381212092	p.Glu43Lys	missense variant	-	NC_000023.11:g.80022396G>A	TOPMed
COSM3845453	p.Glu44Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80022399G>A	NCI-TCGA Cosmic
rs1445755500	p.Glu45Gly	missense variant	-	NC_000023.11:g.80022403A>G	gnomAD
rs950279249	p.Glu45Lys	missense variant	-	NC_000023.11:g.80022402G>A	TOPMed,gnomAD
rs765461432	p.Glu46Asp	missense variant	-	NC_000023.11:g.80022407G>C	ExAC,gnomAD
rs1378785446	p.Arg48Ser	missense variant	-	NC_000023.11:g.80022413G>C	gnomAD
rs752888029	p.Ser49Arg	missense variant	-	NC_000023.11:g.80022414A>C	ExAC,TOPMed,gnomAD
rs758412350	p.Ser49Thr	missense variant	-	NC_000023.11:g.80022415G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser50Arg	missense variant	-	chrX:g.80022419C>A	NCI-TCGA
rs1361763002	p.Ser50Asn	missense variant	-	NC_000023.11:g.80022418G>A	TOPMed
VAR_036067	p.Ala51Thr	Missense	-	-	UniProt
rs1385199095	p.Ala52Ser	missense variant	-	NC_000023.11:g.80022423G>T	gnomAD
rs1331608078	p.Gly53Glu	missense variant	-	NC_000023.11:g.80022427G>A	TOPMed,gnomAD
rs1331608078	p.Gly53Ala	missense variant	-	NC_000023.11:g.80022427G>C	TOPMed,gnomAD
rs1339818189	p.Ser55Ile	missense variant	-	NC_000023.11:g.80022433G>T	gnomAD
rs757815223	p.Ser55Arg	missense variant	-	NC_000023.11:g.80022434C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser55Arg	missense variant	-	chrX:g.80022434C>A	NCI-TCGA
rs1351169817	p.Glu56Asp	missense variant	-	NC_000023.11:g.80022437G>T	gnomAD
NCI-TCGA novel	p.Glu56Asp	missense variant	-	chrX:g.80022437G>T	NCI-TCGA
NCI-TCGA novel	p.Glu56Lys	missense variant	-	chrX:g.80022435G>A	NCI-TCGA
rs104894945	p.Glu56Ter	stop gained	-	NC_000023.11:g.80022435G>T	TOPMed,gnomAD
rs1351169817	p.Glu56Asp	missense variant	-	NC_000023.11:g.80022437G>C	gnomAD
rs104894945	p.Glu56Gln	missense variant	-	NC_000023.11:g.80022435G>C	TOPMed,gnomAD
RCV000012086	p.Glu56Ter	nonsense	Cleft palate with ankyloglossia	NC_000023.11:g.80022435G>T	ClinVar
rs770084170	p.Pro57Arg	missense variant	-	NC_000023.11:g.80022439C>G	ExAC,gnomAD
rs770084170	p.Pro57Leu	missense variant	-	NC_000023.11:g.80022439C>T	ExAC,gnomAD
rs781388378	p.Pro57Ser	missense variant	-	NC_000023.11:g.80022438C>T	ExAC,TOPMed,gnomAD
rs781388378	p.Pro57Thr	missense variant	-	NC_000023.11:g.80022438C>A	ExAC,TOPMed,gnomAD
rs778577936	p.Leu58Phe	missense variant	-	NC_000023.11:g.80022441C>T	ExAC,gnomAD
rs747809017	p.Glu59Lys	missense variant	-	NC_000023.11:g.80022444G>A	ExAC,gnomAD
rs1328828965	p.Gln61Lys	missense variant	-	NC_000023.11:g.80023065C>A	TOPMed
NCI-TCGA novel	p.Pro62Thr	missense variant	-	chrX:g.80023068C>A	NCI-TCGA
rs1402938365	p.Pro62Arg	missense variant	-	NC_000023.11:g.80023069C>G	TOPMed
rs376071635	p.Thr64Ala	missense variant	-	NC_000023.11:g.80023074A>G	ESP,ExAC,gnomAD
rs1355613525	p.Thr68Ile	missense variant	-	NC_000023.11:g.80023087C>T	gnomAD
rs758173485	p.Ser69Pro	missense variant	-	NC_000023.11:g.80023089T>C	ExAC,gnomAD
COSM3845454	p.Ser69Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80023090C>T	NCI-TCGA Cosmic
rs777388281	p.Ala70Val	missense variant	-	NC_000023.11:g.80023093C>T	ExAC
NCI-TCGA novel	p.Ser71Tyr	missense variant	-	chrX:g.80023096C>A	NCI-TCGA
rs1171603763	p.Ser72Phe	missense variant	-	NC_000023.11:g.80023099C>T	TOPMed
rs1461373694	p.Gly73Asp	missense variant	-	NC_000023.11:g.80023102G>A	gnomAD
rs1298540656	p.Cys74Arg	missense variant	-	NC_000023.11:g.80023104T>C	gnomAD
rs1423081813	p.Asp77Asn	missense variant	-	NC_000023.11:g.80023113G>A	TOPMed
COSM5576177	p.Asp77Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80023113G>A	NCI-TCGA Cosmic
rs369384425	p.Ser78Asn	missense variant	-	NC_000023.11:g.80023117G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly79Ser	missense variant	-	chrX:g.80023119G>A	NCI-TCGA
rs776576140	p.Tyr80Asn	missense variant	-	NC_000023.11:g.80023122T>A	ExAC,gnomAD
rs769623927	p.Gly81Ser	missense variant	-	chrX:g.80023125G>A	NCI-TCGA
rs769623927	p.Gly81Arg	missense variant	-	NC_000023.11:g.80023125G>C	ExAC,TOPMed,gnomAD
rs769623927	p.Gly81Ser	missense variant	-	NC_000023.11:g.80023125G>A	ExAC,TOPMed,gnomAD
rs1205788287	p.Ser83Cys	missense variant	-	NC_000023.11:g.80023131A>T	gnomAD
NCI-TCGA novel	p.Ser83Arg	missense variant	-	chrX:g.80023133C>G	NCI-TCGA
rs1487737018	p.Ser84Cys	missense variant	-	NC_000023.11:g.80023135C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Glu88Gln	missense variant	-	chrX:g.80023146G>C	NCI-TCGA
rs1456246678	p.Asp91Val	missense variant	-	NC_000023.11:g.80023156A>T	TOPMed
rs764339429	p.Asp91Asn	missense variant	-	NC_000023.11:g.80023155G>A	ExAC,gnomAD
rs764339429	p.Asp91Tyr	missense variant	-	NC_000023.11:g.80023155G>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp91GlnPheSerTerUnkUnk	frameshift	-	chrX:g.80023153_80023154insAC	NCI-TCGA
rs774586316	p.Ile92Thr	missense variant	-	NC_000023.11:g.80023159T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ile92CysPheSerTerUnkUnk	frameshift	-	chrX:g.80023155_80023156insACTGCAAAGCTAGTTATGAGATAATGCA	NCI-TCGA
rs1480550016	p.Met94Val	missense variant	-	NC_000023.11:g.80023164A>G	gnomAD
rs1016944586	p.Glu95Asp	missense variant	-	NC_000023.11:g.80023169G>C	TOPMed,gnomAD
rs1296394114	p.Gly98Val	missense variant	-	NC_000023.11:g.80023177G>T	TOPMed,gnomAD
rs1296394114	p.Gly98Glu	missense variant	-	NC_000023.11:g.80023177G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gly98Val	missense variant	-	chrX:g.80023177G>T	NCI-TCGA
COSM613756	p.Leu101Met	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80023185C>A	NCI-TCGA Cosmic
rs1367758632	p.Leu101Met	missense variant	-	NC_000023.11:g.80023185C>A	TOPMed
rs137989876	p.Leu101Gln	missense variant	-	NC_000023.11:g.80023186T>A	ESP,ExAC,TOPMed,gnomAD
COSM1125769	p.Lys103Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80023193A>C	NCI-TCGA Cosmic
COSM1125770	p.Arg104Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80023195G>T	NCI-TCGA Cosmic
rs377085198	p.Asp107Gly	missense variant	-	NC_000023.11:g.80023204A>G	ESP,TOPMed,gnomAD
rs377085198	p.Asp107Gly	missense variant	-	chrX:g.80023204A>G	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile108Thr	missense variant	-	chrX:g.80023207T>C	NCI-TCGA
COSM757424	p.Gly109Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80023210G>C	NCI-TCGA Cosmic
rs1379493336	p.Gly109Arg	missense variant	-	NC_000023.11:g.80023209G>A	TOPMed
COSM1491297	p.Met112Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80023220G>T	NCI-TCGA Cosmic
rs1456235873	p.Ile113Met	missense variant	-	NC_000023.11:g.80023223C>G	gnomAD
rs369779825	p.Ala117Pro	missense variant	-	NC_000023.11:g.80023233G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369779825	p.Ala117Thr	missense variant	-	NC_000023.11:g.80023233G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369779825	p.Ala117Thr	missense variant	-	chrX:g.80023233G>A	NCI-TCGA
rs104894944	p.Gly118Cys	missense variant	-	NC_000023.11:g.80023236G>T	-
rs104894944	p.Gly118Cys	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80023236G>T	UniProt,dbSNP
VAR_015383	p.Gly118Cys	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80023236G>T	UniProt
RCV000012083	p.Gly118Cys	missense variant	Cleft palate with ankyloglossia	NC_000023.11:g.80023236G>T	ClinVar
NCI-TCGA novel	p.Arg119Trp	missense variant	-	chrX:g.80023239A>T	NCI-TCGA
rs1162711332	p.Arg120Gly	missense variant	-	NC_000023.11:g.80024064C>G	gnomAD
rs1385589233	p.Arg120Gln	missense variant	-	NC_000023.11:g.80024065G>A	TOPMed,gnomAD
COSM3097725	p.Arg120Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80024064C>T	NCI-TCGA Cosmic
VAR_021831	p.Met121Val	Missense	Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400]	-	UniProt
COSM4856241	p.Ser124Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80024077C>T	NCI-TCGA Cosmic
rs761944554	p.Val125Ile	missense variant	-	NC_000023.11:g.80024079G>A	ExAC,gnomAD
rs761944554	p.Val125Ile	missense variant	-	chrX:g.80024079G>A	NCI-TCGA
rs201456134	p.Arg126Gln	missense variant	-	chrX:g.80024083G>A	NCI-TCGA
rs145161769	p.Arg126Trp	missense variant	-	chrX:g.80024082C>T	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg126Leu	missense variant	-	chrX:g.80024083G>T	NCI-TCGA
rs201456134	p.Arg126Gln	missense variant	-	NC_000023.11:g.80024083G>A	1000Genomes,ExAC,gnomAD
rs773214100	p.Lys128Asn	missense variant	-	NC_000023.11:g.80024090G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys130Glu	missense variant	-	chrX:g.80024094A>G	NCI-TCGA
rs1431655517	p.Gly131Val	missense variant	-	NC_000023.11:g.80024098G>T	gnomAD
NCI-TCGA novel	p.Gly131Trp	missense variant	-	chrX:g.80024097G>T	NCI-TCGA
NCI-TCGA novel	p.Gly131Val	missense variant	-	chrX:g.80024098G>T	NCI-TCGA
rs766953495	p.Pro134Thr	missense variant	-	NC_000023.11:g.80024106C>A	ExAC,gnomAD
rs766953495	p.Pro134Ser	missense variant	-	NC_000023.11:g.80024106C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly135Trp	missense variant	-	chrX:g.80024109G>T	NCI-TCGA
COSM4111255	p.Tyr138Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80024119A>G	NCI-TCGA Cosmic
rs759370678	p.Tyr138His	missense variant	-	NC_000023.11:g.80024118T>C	1000Genomes,ExAC,gnomAD
rs765704978	p.His139Tyr	missense variant	-	NC_000023.11:g.80024121C>T	ExAC,TOPMed,gnomAD
rs751216592	p.Val140Leu	missense variant	-	NC_000023.11:g.80024124G>T	ExAC,gnomAD
rs1403650886	p.Asp143Asn	missense variant	-	NC_000023.11:g.80024133G>A	TOPMed
rs1215959489	p.Val145Met	missense variant	-	NC_000023.11:g.80024139G>A	gnomAD
rs756913403	p.Pro146Arg	missense variant	-	NC_000023.11:g.80024143C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro146Ser	missense variant	-	chrX:g.80024142C>T	NCI-TCGA
rs756913403	p.Pro146Leu	missense variant	-	NC_000023.11:g.80024143C>T	ExAC,TOPMed,gnomAD
rs756913403	p.Pro146Leu	missense variant	-	chrX:g.80024143C>T	NCI-TCGA
rs1182860071	p.Val147Met	missense variant	-	NC_000023.11:g.80024145G>A	gnomAD
rs1446264071	p.Ser149Phe	missense variant	-	NC_000023.11:g.80024152C>T	gnomAD
rs1156605251	p.Lys150Gln	missense variant	-	NC_000023.11:g.80024154A>C	TOPMed,gnomAD
RCV000626748	p.Lys150Gln	missense variant	Cleft palate	NC_000023.11:g.80024154A>C	ClinVar
rs368136178	p.Arg151Leu	missense variant	-	NC_000023.11:g.80024158G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1407601790	p.Arg151Cys	missense variant	-	NC_000023.11:g.80024157C>T	TOPMed,gnomAD
COSM6051274	p.Arg151His	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80024158G>A	NCI-TCGA Cosmic
COSM1491298	p.Arg151Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80024157C>T	NCI-TCGA Cosmic
rs368136178	p.Arg151His	missense variant	-	NC_000023.11:g.80024158G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM758322	p.Val155Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80025607G>C	NCI-TCGA Cosmic
COSM6188035	p.Val155Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80025607G>T	NCI-TCGA Cosmic
rs1470650923	p.Val155Ile	missense variant	-	NC_000023.11:g.80025607G>A	gnomAD
rs1343056432	p.Val155Ala	missense variant	-	NC_000023.11:g.80025608T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Tyr156Asn	missense variant	-	chrX:g.80025610T>A	NCI-TCGA
rs1423305487	p.Tyr156Cys	missense variant	-	NC_000023.11:g.80025611A>G	TOPMed,gnomAD
rs760190777	p.His157Tyr	missense variant	-	NC_000023.11:g.80025613C>T	ExAC,gnomAD
COSM1125771	p.Ser158Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80025616A>G	NCI-TCGA Cosmic
rs1177244637	p.Ser158Arg	missense variant	-	NC_000023.11:g.80025616A>C	gnomAD
rs1185725124	p.Gln160Arg	missense variant	-	NC_000023.11:g.80025623A>G	TOPMed
NCI-TCGA novel	p.Met162Val	missense variant	-	chrX:g.80025628A>G	NCI-TCGA
rs765680258	p.Val163Ala	missense variant	-	NC_000023.11:g.80025632T>C	ExAC,TOPMed,gnomAD
rs1328608615	p.Thr167Arg	missense variant	-	NC_000023.11:g.80025644C>G	gnomAD
rs1336674612	p.His169Gln	missense variant	-	NC_000023.11:g.80025651T>A	gnomAD
rs761492404	p.Leu170Phe	missense variant	-	NC_000023.11:g.80025654G>T	ExAC
rs767034098	p.Cys171Tyr	missense variant	-	NC_000023.11:g.80025656G>A	ExAC,gnomAD
rs963408036	p.Ile172Leu	missense variant	-	NC_000023.11:g.80025658A>C	TOPMed
NCI-TCGA novel	p.Ile172Asn	missense variant	-	chrX:g.80025659T>A	NCI-TCGA
rs755501455	p.Phe176Leu	missense variant	-	NC_000023.11:g.80025670T>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Tyr177Cys	missense variant	-	chrX:g.80025674A>G	NCI-TCGA
rs1222428638	p.Tyr177His	missense variant	-	NC_000023.11:g.80025673T>C	gnomAD
rs1193114601	p.Val178Ala	missense variant	-	NC_000023.11:g.80025677T>C	TOPMed
NCI-TCGA novel	p.His179Leu	missense variant	-	chrX:g.80025680A>T	NCI-TCGA
rs779543847	p.Pro180Leu	missense variant	-	NC_000023.11:g.80025683C>T	ExAC,TOPMed,gnomAD
rs778648477	p.Pro183Thr	missense variant	-	NC_000023.11:g.80025691C>A	ExAC,gnomAD
VAR_021832	p.Pro183Leu	Missense	Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400]	-	UniProt
NCI-TCGA novel	p.Cys184Ser	missense variant	-	chrX:g.80025695G>C	NCI-TCGA
COSM150798	p.Cys184Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80025695G>T	NCI-TCGA Cosmic
rs765734398	p.Ser185Leu	missense variant	-	NC_000023.11:g.80025698C>T	ExAC,TOPMed,gnomAD
RCV000302811	p.Ser185Leu	missense variant	Cleft palate X-linked (CPX)	NC_000023.11:g.80025698C>T	ClinVar
NCI-TCGA novel	p.Gly186Glu	missense variant	-	chrX:g.80025701G>A	NCI-TCGA
rs34244923	p.Glu187Lys	missense variant	-	NC_000023.11:g.80025703G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000364607	p.Glu187Lys	missense variant	Cleft palate X-linked (CPX)	NC_000023.11:g.80025703G>A	ClinVar
rs1431456050	p.Thr188Ser	missense variant	-	NC_000023.11:g.80025706A>T	gnomAD
rs747262805	p.Arg191Gln	missense variant	-	NC_000023.11:g.80025716G>A	ExAC,TOPMed,gnomAD
COSM1125772	p.Arg191Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80025715C>T	NCI-TCGA Cosmic
rs747262805	p.Arg191Leu	missense variant	-	NC_000023.11:g.80025716G>T	ExAC,TOPMed,gnomAD
rs993952750	p.Arg191Trp	missense variant	-	NC_000023.11:g.80025715C>T	TOPMed,gnomAD
VAR_069900	p.Ser195insSerSer	duplication	Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400]	-	UniProt
rs1398927099	p.Asp197Gly	missense variant	-	NC_000023.11:g.80025734A>G	TOPMed
rs200542790	p.Arg198Leu	missense variant	-	NC_000023.11:g.80025737G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200542790	p.Arg198His	missense variant	-	NC_000023.11:g.80025737G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM3563653	p.Arg198Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80025736C>T	NCI-TCGA Cosmic
rs776905471	p.Arg198Ser	missense variant	-	chrX:g.80025736C>A	NCI-TCGA
rs776905471	p.Arg198Ser	missense variant	-	NC_000023.11:g.80025736C>A	ExAC,gnomAD
rs1403879065	p.Met199Ile	missense variant	-	NC_000023.11:g.80025741G>A	gnomAD
rs770461385	p.Met199Val	missense variant	-	NC_000023.11:g.80025739A>G	ExAC,gnomAD
COSM72928	p.Leu201Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80025745C>A	NCI-TCGA Cosmic
COSM3406616	p.Leu201Val	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80025745C>G	NCI-TCGA Cosmic
rs776093447	p.Asn203Ser	missense variant	-	NC_000023.11:g.80025752A>G	ExAC,gnomAD
rs763177430	p.Asp207Val	missense variant	-	NC_000023.11:g.80025764A>T	ExAC,gnomAD
COSM1469569	p.Asp207Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80025763G>A	NCI-TCGA Cosmic
rs1224588185	p.Asp208Gly	missense variant	-	NC_000023.11:g.80025767A>G	gnomAD
rs764530704	p.Gly210Ser	missense variant	-	NC_000023.11:g.80025772G>A	ExAC,gnomAD
rs772672988	p.Gly210Asp	missense variant	-	NC_000023.11:g.80025773G>A	ExAC,gnomAD
rs772672988	p.Gly210Ala	missense variant	-	NC_000023.11:g.80025773G>C	ExAC,gnomAD
rs104894946	p.Leu214Pro	missense variant	-	NC_000023.11:g.80026711T>C	-
rs104894946	p.Leu214Pro	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026711T>C	UniProt,dbSNP
VAR_021829	p.Leu214Pro	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026711T>C	UniProt
RCV000012087	p.Leu214Pro	missense variant	Cleft palate with ankyloglossia	NC_000023.11:g.80026711T>C	ClinVar
rs747225015	p.Gln215His	missense variant	-	NC_000023.11:g.80026715A>T	ExAC,gnomAD
NCI-TCGA novel	p.Met217Ile	missense variant	-	chrX:g.80026721G>C	NCI-TCGA
COSM364855	p.Met217Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80026721G>T	NCI-TCGA Cosmic
COSM458121	p.Met217Val	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80026719A>G	NCI-TCGA Cosmic
rs757598908	p.His218Asn	missense variant	-	NC_000023.11:g.80026722C>A	ExAC,TOPMed,gnomAD
rs1449258747	p.Tyr220Asp	missense variant	-	NC_000023.11:g.80026728T>G	gnomAD
rs781385178	p.Pro222Thr	missense variant	-	NC_000023.11:g.80026734C>A	ExAC,gnomAD
COSM758320	p.Pro222His	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80026735C>A	NCI-TCGA Cosmic
COSM4504460	p.Pro222Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80026735C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg223Ter	stop gained	-	chrX:g.80026737C>T	NCI-TCGA
rs1445663868	p.Val224Met	missense variant	-	NC_000023.11:g.80026740G>A	gnomAD
NCI-TCGA novel	p.Val224Leu	missense variant	-	chrX:g.80026740G>T	NCI-TCGA
rs141355013	p.His225Tyr	missense variant	-	NC_000023.11:g.80026743C>T	ESP,TOPMed,gnomAD
rs775801815	p.Val226Met	missense variant	-	NC_000023.11:g.80026746G>A	ExAC,TOPMed,gnomAD
rs775801815	p.Val226Met	missense variant	-	chrX:g.80026746G>A	NCI-TCGA
rs368794829	p.Glu228Lys	missense variant	-	NC_000023.11:g.80026752G>A	ESP,TOPMed
rs749803887	p.Gly230Asp	missense variant	-	NC_000023.11:g.80026759G>A	ExAC,gnomAD
rs1298302616	p.Ser232Asn	missense variant	-	NC_000023.11:g.80026765G>A	TOPMed
rs370372482	p.Val233Ile	missense variant	-	NC_000023.11:g.80026767G>A	ESP,ExAC,TOPMed,gnomAD
rs774836026	p.Asp234Glu	missense variant	-	NC_000023.11:g.80026772C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp234His	missense variant	-	chrX:g.80026770G>C	NCI-TCGA
NCI-TCGA novel	p.Leu235Gln	missense variant	-	chrX:g.80026774T>A	NCI-TCGA
rs1305092063	p.Ser236Phe	missense variant	-	NC_000023.11:g.80026777C>T	TOPMed
rs992907062	p.Gln237Pro	missense variant	-	NC_000023.11:g.80026780A>C	TOPMed,gnomAD
COSM6119713	p.Gln239Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80026785C>G	NCI-TCGA Cosmic
rs765976780	p.Pro242Thr	missense variant	-	NC_000023.11:g.80026794C>A	ExAC,gnomAD
rs1316821118	p.Thr243Ala	missense variant	-	NC_000023.11:g.80026797A>G	TOPMed,gnomAD
rs1316821118	p.Thr243Ser	missense variant	-	NC_000023.11:g.80026797A>T	TOPMed,gnomAD
rs1238545711	p.Gly245Asp	missense variant	-	NC_000023.11:g.80026804G>A	gnomAD
VAR_069416	p.Phe249Tyr	Missense	-	-	UniProt
NCI-TCGA novel	p.Glu255Ter	stop gained	-	chrX:g.80026833G>T	NCI-TCGA
rs758990043	p.Glu255Gly	missense variant	-	NC_000023.11:g.80026834A>G	ExAC
rs764811230	p.Thr257Ser	missense variant	-	NC_000023.11:g.80026840C>G	ExAC,gnomAD
rs764811230	p.Thr257Ile	missense variant	-	NC_000023.11:g.80026840C>T	ExAC,gnomAD
rs758424012	p.Thr258Ile	missense variant	-	NC_000023.11:g.80026843C>T	ExAC,gnomAD
rs104894943	p.Thr260Met	missense variant	-	NC_000023.11:g.80026849C>T	-
rs104894943	p.Thr260Met	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026849C>T	UniProt,dbSNP
VAR_015384	p.Thr260Met	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026849C>T	UniProt
rs104894943	p.Thr260Met	missense variant	-	chrX:g.80026849C>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000012082	p.Thr260Met	missense variant	Cleft palate with ankyloglossia	NC_000023.11:g.80026849C>T	ClinVar
NCI-TCGA novel	p.Ala261AspPheSerTerUnkUnk	frameshift	-	chrX:g.80026849_80026850insTGATA	NCI-TCGA
rs28935177	p.Asn264Tyr	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026860A>T	UniProt,dbSNP
VAR_021830	p.Asn264Tyr	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026860A>T	UniProt
rs28935177	p.Asn264Tyr	missense variant	-	NC_000023.11:g.80026860A>T	-
RCV000012089	p.Asn264Tyr	missense variant	Cleft palate with ankyloglossia	NC_000023.11:g.80026860A>T	ClinVar
NCI-TCGA novel	p.Gln266Pro	missense variant	-	chrX:g.80026867A>C	NCI-TCGA
rs759255355	p.Ile267Phe	missense variant	-	NC_000023.11:g.80027256A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile267Asn	missense variant	-	chrX:g.80027257T>A	NCI-TCGA
rs759255355	p.Ile267Val	missense variant	-	NC_000023.11:g.80027256A>G	ExAC,TOPMed,gnomAD
rs769176901	p.Thr268Met	missense variant	-	NC_000023.11:g.80027260C>T	ExAC,TOPMed,gnomAD
rs769176901	p.Thr268Lys	missense variant	-	NC_000023.11:g.80027260C>A	ExAC,TOPMed,gnomAD
rs769176901	p.Thr268Met	missense variant	-	chrX:g.80027260C>T	NCI-TCGA,NCI-TCGA Cosmic
rs769176901	p.Thr268Arg	missense variant	-	NC_000023.11:g.80027260C>G	ExAC,TOPMed,gnomAD
rs1206744172	p.Glu273Gly	missense variant	-	NC_000023.11:g.80027275A>G	TOPMed
COSM1125775	p.Arg274Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80027278G>T	NCI-TCGA Cosmic
COSM1125776	p.Pro276His	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80027284C>A	NCI-TCGA Cosmic
COSM224126	p.Pro276Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80027283C>T	NCI-TCGA Cosmic
COSM758318	p.Pro276Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80027283C>G	NCI-TCGA Cosmic
rs764049245	p.Pro276Thr	missense variant	-	NC_000023.11:g.80027283C>A	ExAC
NCI-TCGA novel	p.Ala278Pro	missense variant	-	chrX:g.80027289G>C	NCI-TCGA
rs1480540426	p.Lys279Glu	missense variant	-	NC_000023.11:g.80027292A>G	gnomAD
NCI-TCGA novel	p.Gly280AspPheSerTerUnkUnk	frameshift	-	chrX:g.80027292A>-	NCI-TCGA
COSM4401078	p.Arg282Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80027302G>A	NCI-TCGA Cosmic
rs1304491827	p.Asp283Tyr	missense variant	-	NC_000023.11:g.80027304G>T	gnomAD
NCI-TCGA novel	p.Thr284Asn	missense variant	-	chrX:g.80027308C>A	NCI-TCGA
NCI-TCGA novel	p.Gly285Arg	missense variant	-	chrX:g.80027310G>A	NCI-TCGA
rs767423228	p.Arg288Met	missense variant	-	NC_000023.11:g.80027320G>T	ExAC
NCI-TCGA novel	p.Arg288Gly	missense variant	-	chrX:g.80027319A>G	NCI-TCGA
rs1253379406	p.Gly289Val	missense variant	-	NC_000023.11:g.80027993G>T	gnomAD
NCI-TCGA novel	p.Gly289Asp	missense variant	-	chrX:g.80027993G>A	NCI-TCGA
NCI-TCGA novel	p.Val290Ala	missense variant	-	chrX:g.80027996T>C	NCI-TCGA
rs762472993	p.Leu291Phe	missense variant	-	NC_000023.11:g.80028000G>C	ExAC,gnomAD
rs960682849	p.Gly293Arg	missense variant	-	NC_000023.11:g.80028004G>A	TOPMed,gnomAD
rs1428441084	p.Leu295Phe	missense variant	-	NC_000023.11:g.80028012A>C	TOPMed
NCI-TCGA novel	p.Glu296Lys	missense variant	-	chrX:g.80028013G>A	NCI-TCGA
NCI-TCGA novel	p.Glu296Ter	stop gained	-	chrX:g.80028013G>T	NCI-TCGA
NCI-TCGA novel	p.Glu296Asp	missense variant	-	chrX:g.80028015G>T	NCI-TCGA
NCI-TCGA novel	p.Thr297Asn	missense variant	-	chrX:g.80028017C>A	NCI-TCGA
rs1259647651	p.Pro299Ser	missense variant	-	NC_000023.11:g.80028022C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Pro299HisPheSerTerUnkUnk	frameshift	-	chrX:g.80028021C>-	NCI-TCGA
NCI-TCGA novel	p.Trp300Leu	missense variant	-	chrX:g.80028026G>T	NCI-TCGA
rs1555993323	p.Trp300Ter	stop gained	-	NC_000023.11:g.80028026G>A	-
rs371749262	p.Trp300Arg	missense variant	-	NC_000023.11:g.80028025T>C	ExAC,gnomAD
RCV000523410	p.Trp300Ter	nonsense	-	NC_000023.11:g.80028026G>A	ClinVar
COSM3723815	p.Phe304Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80028037T>C	NCI-TCGA Cosmic
COSM3800777	p.Thr305Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80028041C>T	NCI-TCGA Cosmic
rs1490265878	p.Leu306Ile	missense variant	-	NC_000023.11:g.80028043C>A	gnomAD
rs750292974	p.Asp307Asn	missense variant	-	chrX:g.80028046G>A	NCI-TCGA,NCI-TCGA Cosmic
rs750292974	p.Asp307Asn	missense variant	-	NC_000023.11:g.80028046G>A	UniProt,dbSNP
VAR_036068	p.Asp307Asn	missense variant	-	NC_000023.11:g.80028046G>A	UniProt
rs750292974	p.Asp307Asn	missense variant	-	NC_000023.11:g.80028046G>A	ExAC,gnomAD
NCI-TCGA novel	p.Phe308LeuPheSerTerUnkUnk	frameshift	-	chrX:g.80028048T>-	NCI-TCGA
NCI-TCGA novel	p.Lys309Asn	missense variant	-	chrX:g.80028054A>C	NCI-TCGA
rs990805395	p.Lys309Thr	missense variant	-	NC_000023.11:g.80028053A>C	TOPMed
rs1320848821	p.Thr310Ile	missense variant	-	NC_000023.11:g.80028056C>T	TOPMed
rs527984602	p.Ala313Thr	missense variant	-	NC_000023.11:g.80028064G>A	ExAC,TOPMed,gnomAD
rs767569061	p.Asp314Gly	missense variant	-	NC_000023.11:g.80028068A>G	1000Genomes,ExAC,gnomAD
rs751915345	p.Gly318Arg	missense variant	-	NC_000023.11:g.80030500G>A	1000Genomes,ExAC,gnomAD
rs751915345	p.Gly318Arg	missense variant	-	NC_000023.11:g.80030500G>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gly318Val	missense variant	-	chrX:g.80030501G>T	NCI-TCGA
COSM758317	p.Ser319Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030504G>A	NCI-TCGA Cosmic
rs1029502810	p.Gly321Asp	missense variant	-	NC_000023.11:g.80030510G>A	TOPMed
rs757798692	p.Gly321Ser	missense variant	-	NC_000023.11:g.80030509G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs752017317	p.Ser323Thr	missense variant	-	NC_000023.11:g.80030515T>A	ExAC,gnomAD
COSM388415	p.Ser323Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030516C>T	NCI-TCGA Cosmic
rs781651154	p.Val325Leu	missense variant	-	NC_000023.11:g.80030521G>C	1000Genomes,ExAC,gnomAD
COSM6119712	p.Val325Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030521G>T	NCI-TCGA Cosmic
rs1052677632	p.Thr326Ser	missense variant	-	NC_000023.11:g.80030524A>T	TOPMed,gnomAD
rs1459916896	p.Gly329Arg	missense variant	-	NC_000023.11:g.80030533G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gly329Ter	stop gained	-	chrX:g.80030533G>T	NCI-TCGA
rs1237797145	p.Pro332Ser	missense variant	-	NC_000023.11:g.80030542C>T	gnomAD
NCI-TCGA novel	p.Ser333LeuPheSerTerUnk	frameshift	-	chrX:g.80030540C>-	NCI-TCGA
COSM3563655	p.Ser333Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030546C>G	NCI-TCGA Cosmic
COSM3563656	p.Pro334His	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030549C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu335Phe	missense variant	-	chrX:g.80030553G>T	NCI-TCGA
rs781474415	p.Ser337Thr	missense variant	-	NC_000023.11:g.80030557T>A	ExAC,TOPMed,gnomAD
rs1175746187	p.Ser337Phe	missense variant	-	NC_000023.11:g.80030558C>T	gnomAD
COSM758316	p.Leu339Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030563C>A	NCI-TCGA Cosmic
COSM1125777	p.Cys343Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030576G>A	NCI-TCGA Cosmic
rs1407487643	p.Phe344Leu	missense variant	-	NC_000023.11:g.80030578T>C	gnomAD
COSM6188033	p.Pro346Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030585C>G	NCI-TCGA Cosmic
rs1030946293	p.Pro346Arg	missense variant	-	NC_000023.11:g.80030585C>G	gnomAD
rs1030946293	p.Pro346Leu	missense variant	-	NC_000023.11:g.80030585C>T	gnomAD
NCI-TCGA novel	p.Met347Leu	missense variant	-	chrX:g.80030587A>C	NCI-TCGA
rs372948739	p.Met347Val	missense variant	-	NC_000023.11:g.80030587A>G	ESP,ExAC,TOPMed,gnomAD
rs1469682502	p.Leu350Phe	missense variant	-	NC_000023.11:g.80030598A>T	gnomAD
rs778535394	p.Pro351Ser	missense variant	-	NC_000023.11:g.80030599C>T	ExAC,gnomAD
rs1470640756	p.Thr352Ile	missense variant	-	NC_000023.11:g.80030603C>T	TOPMed
rs747613335	p.Thr352Ala	missense variant	-	NC_000023.11:g.80030602A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser353Asn	missense variant	-	chrX:g.80030606G>A	NCI-TCGA
rs1440442525	p.Leu355Phe	missense variant	-	NC_000023.11:g.80030611C>T	gnomAD
rs374765772	p.Met357Val	missense variant	-	NC_000023.11:g.80030617A>G	ESP,TOPMed
rs1277452059	p.Pro358Thr	missense variant	-	NC_000023.11:g.80030620C>A	gnomAD
NCI-TCGA novel	p.Cys359Tyr	missense variant	-	chrX:g.80030624G>A	NCI-TCGA
rs369127582	p.Cys359Arg	missense variant	-	NC_000023.11:g.80030623T>C	ESP,ExAC,TOPMed,gnomAD
rs369127582	p.Cys359Ser	missense variant	-	NC_000023.11:g.80030623T>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu361Asp	missense variant	-	chrX:g.80030631G>T	NCI-TCGA
NCI-TCGA novel	p.Ala362Ser	missense variant	-	chrX:g.80030632G>T	NCI-TCGA
COSM1331675	p.Ala362Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030633C>A	NCI-TCGA Cosmic
rs746987550	p.Tyr363Cys	missense variant	-	NC_000023.11:g.80030636A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr363Ter	stop gained	-	chrX:g.80030637C>G	NCI-TCGA
rs1202905184	p.Leu364Pro	missense variant	-	NC_000023.11:g.80030639T>C	gnomAD
NCI-TCGA novel	p.Leu364Met	missense variant	-	chrX:g.80030638C>A	NCI-TCGA
rs916621625	p.Pro365His	missense variant	-	NC_000023.11:g.80030642C>A	TOPMed
rs769725713	p.Asn366Ser	missense variant	-	NC_000023.11:g.80030645A>G	1000Genomes
rs1279217597	p.Val367Gly	missense variant	-	NC_000023.11:g.80030648T>G	gnomAD
NCI-TCGA novel	p.Val367Ile	missense variant	-	chrX:g.80030647G>A	NCI-TCGA
rs1202172633	p.Pro370Leu	missense variant	-	NC_000023.11:g.80030657C>T	gnomAD
COSM1235195	p.Pro370Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030656C>T	NCI-TCGA Cosmic
rs948170365	p.Cys372Arg	missense variant	-	NC_000023.11:g.80030662T>C	TOPMed
rs765407594	p.Cys372Tyr	missense variant	-	NC_000023.11:g.80030663G>A	ExAC,TOPMed,gnomAD
rs775706886	p.Tyr373Cys	missense variant	-	NC_000023.11:g.80030666A>G	ExAC,gnomAD
COSM1125778	p.Lys374Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030670G>T	NCI-TCGA Cosmic
rs982648449	p.Cys376Phe	missense variant	-	NC_000023.11:g.80030675G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Pro377Thr	missense variant	-	chrX:g.80030677C>A	NCI-TCGA
rs887597789	p.Thr378Ser	missense variant	-	NC_000023.11:g.80030680A>T	TOPMed
rs1177856114	p.Asn379His	missense variant	-	NC_000023.11:g.80030683A>C	gnomAD
COSM758315	p.Asn379Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030684A>G	NCI-TCGA Cosmic
rs762959263	p.Asn379Ile	missense variant	-	NC_000023.11:g.80030684A>T	ExAC,gnomAD
rs764159886	p.Phe380Ser	missense variant	-	NC_000023.11:g.80030687T>C	ExAC
rs1014775367	p.Trp381Ter	stop gained	-	NC_000023.11:g.80030691G>A	TOPMed
rs1014775367	p.Trp381Cys	missense variant	-	NC_000023.11:g.80030691G>C	TOPMed
rs752099645	p.Trp381Leu	missense variant	-	NC_000023.11:g.80030690G>T	ExAC,TOPMed,gnomAD
rs1353576298	p.Gln384Lys	missense variant	-	NC_000023.11:g.80030698C>A	gnomAD
NCI-TCGA novel	p.Gln384Lys	missense variant	-	chrX:g.80030698C>A	NCI-TCGA
rs767900601	p.Pro385Ser	missense variant	-	NC_000023.11:g.80030701C>T	ExAC
rs1343152462	p.Leu388Phe	missense variant	-	NC_000023.11:g.80030712A>C	TOPMed,gnomAD
rs756577621	p.Pro389Leu	missense variant	-	NC_000023.11:g.80030714C>T	ExAC,gnomAD
rs141303126	p.Ala390Asp	missense variant	-	NC_000023.11:g.80030717C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs189969457	p.Ala390Thr	missense variant	-	NC_000023.11:g.80030716G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Pro391His	missense variant	-	chrX:g.80030720C>A	NCI-TCGA
COSM3424979	p.Arg393Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030726G>T	NCI-TCGA Cosmic
rs992049559	p.Ala395Thr	missense variant	-	NC_000023.11:g.80030731G>A	TOPMed
rs940977409	p.Ser397Arg	missense variant	-	NC_000023.11:g.80030739C>A	TOPMed,gnomAD
rs1207504606	p.Asn398Ser	missense variant	-	NC_000023.11:g.80030741A>G	gnomAD
NCI-TCGA novel	p.Asn398Tyr	missense variant	-	chrX:g.80030740A>T	NCI-TCGA
NCI-TCGA novel	p.Ser399Thr	missense variant	-	chrX:g.80030744G>C	NCI-TCGA
COSM1125780	p.Ser399Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030743A>C	NCI-TCGA Cosmic
COSM1469573	p.Ser400Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030747C>A	NCI-TCGA Cosmic
COSM6188032	p.Gln401His	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030751G>T	NCI-TCGA Cosmic
COSM6188031	p.Leu403Ter	stop gained	Variant assessed as Somatic; HIGH impact.	chrX:g.80030756T>A	NCI-TCGA Cosmic
rs1025023287	p.Pro405Leu	missense variant	-	NC_000023.11:g.80030762C>T	TOPMed
NCI-TCGA novel	p.Pro405Ala	missense variant	-	chrX:g.80030761C>G	NCI-TCGA
NCI-TCGA novel	p.Pro405Gln	missense variant	-	chrX:g.80030762C>A	NCI-TCGA
COSM6188030	p.Pro405Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030761C>A	NCI-TCGA Cosmic
COSM3563657	p.Met407Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030769G>A	NCI-TCGA Cosmic
COSM6119711	p.Met407Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030767A>T	NCI-TCGA Cosmic
rs1412033085	p.Met408Thr	missense variant	-	NC_000023.11:g.80030771T>C	TOPMed
rs1412033085	p.Met408Arg	missense variant	-	NC_000023.11:g.80030771T>G	TOPMed
rs1490218662	p.Glu409Gly	missense variant	-	NC_000023.11:g.80030774A>G	TOPMed,gnomAD
rs1199668767	p.Val410Met	missense variant	-	NC_000023.11:g.80030776G>A	gnomAD
NCI-TCGA novel	p.Val410LeuAlaCysTerSerProLeuAlaValGln	stop gained	-	chrX:g.80030777_80030778insACTGGCCTGCTGATCACCTCTTGCTGTCCA	NCI-TCGA
rs969121159	p.Pro411Arg	missense variant	-	NC_000023.11:g.80030780C>G	TOPMed
NCI-TCGA novel	p.Pro411LeuPheSerTerUnkUnk	frameshift	-	chrX:g.80030779C>-	NCI-TCGA
NCI-TCGA novel	p.Pro411Ser	missense variant	-	chrX:g.80030779C>T	NCI-TCGA
rs1249027829	p.Met412Thr	missense variant	-	NC_000023.11:g.80030783T>C	gnomAD
COSM758314	p.Ser414Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030789C>T	NCI-TCGA Cosmic
rs770817802	p.Gly417Val	missense variant	-	NC_000023.11:g.80030798G>T	ExAC,TOPMed,gnomAD
rs1167726911	p.Val418Ile	missense variant	-	NC_000023.11:g.80030800G>A	gnomAD
rs1167726911	p.Val418Leu	missense variant	-	NC_000023.11:g.80030800G>C	gnomAD
NCI-TCGA novel	p.Val418SerPheSerTerUnkUnk	frameshift	-	chrX:g.80030796G>-	NCI-TCGA
rs1167726911	p.Val418Phe	missense variant	-	NC_000023.11:g.80030800G>T	gnomAD
rs773209426	p.Gly424Ser	missense variant	-	NC_000023.11:g.80030818G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs936807563	p.Ser426Cys	missense variant	-	NC_000023.11:g.80030825C>G	TOPMed,gnomAD
rs1363320972	p.Glu427Lys	missense variant	-	NC_000023.11:g.80030827G>A	gnomAD
NCI-TCGA novel	p.Asp428His	missense variant	-	chrX:g.80030830G>C	NCI-TCGA
NCI-TCGA novel	p.Ser429Tyr	missense variant	-	chrX:g.80030834C>A	NCI-TCGA
NCI-TCGA novel	p.Ser430Arg	missense variant	-	chrX:g.80030838T>G	NCI-TCGA
rs769585668	p.Ser430Asn	missense variant	-	NC_000023.11:g.80030837G>A	ExAC,gnomAD
rs763224704	p.Asp431Glu	missense variant	-	NC_000023.11:g.80030841T>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln432Ter	stop gained	-	chrX:g.80030842C>T	NCI-TCGA
rs145861460	p.Tyr433Cys	missense variant	-	NC_000023.11:g.80030846A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145861460	p.Tyr433Ser	missense variant	-	NC_000023.11:g.80030846A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767870694	p.Ala436Val	missense variant	-	NC_000023.11:g.80030855C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro437Leu	missense variant	-	chrX:g.80030858C>T	NCI-TCGA
rs750980922	p.Pro437Ser	missense variant	-	NC_000023.11:g.80030857C>T	ExAC
rs761055625	p.Asn438Asp	missense variant	-	NC_000023.11:g.80030860A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asn438Ser	missense variant	-	chrX:g.80030861A>G	NCI-TCGA
COSM1125781	p.Ser439Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030864C>A	NCI-TCGA Cosmic
COSM277622	p.Ser439Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030863T>C	NCI-TCGA Cosmic
rs766918607	p.Asn441Ser	missense variant	-	NC_000023.11:g.80030870A>G	ExAC,TOPMed,gnomAD
rs774880507	p.Met443Ile	missense variant	-	NC_000023.11:g.80030877G>A	gnomAD
NCI-TCGA novel	p.Gln448His	missense variant	-	chrX:g.80030892G>C	NCI-TCGA
NCI-TCGA novel	p.Ser449Pro	missense variant	-	chrX:g.80030893T>C	NCI-TCGA
NCI-TCGA novel	p.Pro456Leu	missense variant	-	chrX:g.80030915C>T	NCI-TCGA
rs1041301641	p.Asn457Asp	missense variant	-	NC_000023.11:g.80030917A>G	TOPMed
rs1288986462	p.Ser458Pro	missense variant	-	NC_000023.11:g.80030920T>C	TOPMed
rs1165036733	p.Ser458Cys	missense variant	-	NC_000023.11:g.80030921C>G	gnomAD
NCI-TCGA novel	p.Ser458Pro	missense variant	-	chrX:g.80030920T>C	NCI-TCGA
rs1249151692	p.Ile459Val	missense variant	-	NC_000023.11:g.80030923A>G	gnomAD
rs1348703924	p.Pro461Leu	missense variant	-	NC_000023.11:g.80030930C>T	TOPMed
NCI-TCGA novel	p.Pro461Thr	missense variant	-	chrX:g.80030929C>A	NCI-TCGA
rs1451795165	p.Pro461Ser	missense variant	-	NC_000023.11:g.80030929C>T	gnomAD
NCI-TCGA novel	p.Glu462Ter	stop gained	-	chrX:g.80030932G>T	NCI-TCGA
rs113672075	p.Ala463Thr	missense variant	-	NC_000023.11:g.80030935G>A	ExAC,TOPMed,gnomAD
rs113672075	p.Ala463Pro	missense variant	-	NC_000023.11:g.80030935G>C	ExAC,TOPMed,gnomAD
rs750989813	p.Ser465Arg	missense variant	-	NC_000023.11:g.80030941A>C	ExAC,gnomAD
rs756809972	p.Ser465Ile	missense variant	-	NC_000023.11:g.80030942G>T	ExAC,gnomAD
rs756809972	p.Ser465Ile	missense variant	-	chrX:g.80030942G>T	NCI-TCGA,NCI-TCGA Cosmic
rs780937825	p.Cys466Arg	missense variant	-	NC_000023.11:g.80030944T>C	ExAC
rs1166970843	p.Cys466Phe	missense variant	-	NC_000023.11:g.80030945G>T	TOPMed
NCI-TCGA novel	p.Ser467Cys	missense variant	-	chrX:g.80030948C>G	NCI-TCGA
rs1057515990	p.Ser471Phe	missense variant	-	NC_000023.11:g.80030960C>T	-
COSM3563659	p.Ser471Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030960C>T	NCI-TCGA Cosmic
RCV000277730	p.Ser471Phe	missense variant	Cleft palate X-linked (CPX)	NC_000023.11:g.80030960C>T	ClinVar
rs1420275916	p.Tyr472Ter	stop gained	-	NC_000023.11:g.80030964T>A	TOPMed
rs1428508258	p.Asp473Tyr	missense variant	-	NC_000023.11:g.80030965G>T	gnomAD
COSM6119710	p.Asp473Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030965G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe474Leu	missense variant	-	chrX:g.80030970T>G	NCI-TCGA
rs148996612	p.Tyr475Phe	missense variant	-	NC_000023.11:g.80030972A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1398432972	p.Arg476Thr	missense variant	-	NC_000023.11:g.80030975G>C	gnomAD
NCI-TCGA novel	p.Arg476Ile	missense variant	-	chrX:g.80030975G>T	NCI-TCGA
rs1488086366	p.Tyr477Ter	stop gained	-	NC_000023.11:g.80030979C>G	TOPMed
rs1014680559	p.Asn478Asp	missense variant	-	NC_000023.11:g.80030980A>G	TOPMed,gnomAD
rs779885451	p.Phe479Leu	missense variant	-	NC_000023.11:g.80030985C>A	ExAC,TOPMed,gnomAD
rs749491524	p.Ser480Tyr	missense variant	-	NC_000023.11:g.80030987C>A	ExAC,gnomAD
rs1490458896	p.Met481Thr	missense variant	-	NC_000023.11:g.80030990T>C	TOPMed
rs969874867	p.Pro482Thr	missense variant	-	NC_000023.11:g.80030992C>A	TOPMed
COSM6188029	p.Pro482Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030992C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser483Tyr	missense variant	-	chrX:g.80030996C>A	NCI-TCGA
rs768802533	p.Leu485Met	missense variant	-	chrX:g.80031001C>A	NCI-TCGA,NCI-TCGA Cosmic
rs768802533	p.Leu485Met	missense variant	-	NC_000023.11:g.80031001C>A	ExAC,gnomAD
rs1245730670	p.Ile486Val	missense variant	-	NC_000023.11:g.80031004A>G	gnomAD
rs373265224	p.Gly488Asp	missense variant	-	NC_000023.11:g.80031011G>A	ESP
NCI-TCGA novel	p.Gly488ValPheSerTerUnk	frameshift	-	chrX:g.80031006_80031007insTC	NCI-TCGA
COSM6119709	p.Gly488Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80031010G>T	NCI-TCGA Cosmic
rs897670250	p.Gly488Ser	missense variant	-	NC_000023.11:g.80031010G>A	TOPMed
NCI-TCGA novel	p.Leu492Phe	missense variant	-	chrX:g.80031022C>T	NCI-TCGA
NCI-TCGA novel	p.Asp496Val	missense variant	-	chrX:g.80031035A>T	NCI-TCGA
rs761750322	p.Asp497Asn	missense variant	-	NC_000023.11:g.80031037G>A	ExAC,TOPMed,gnomAD
rs761750322	p.Asp497Asn	missense variant	-	chrX:g.80031037G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1204623529	p.Ser498Thr	missense variant	-	NC_000023.11:g.80031041G>C	gnomAD
rs377496944	p.Val500Ile	missense variant	-	NC_000023.11:g.80031046G>A	ESP,ExAC,TOPMed,gnomAD
COSM1125784	p.Val500Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80031047T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser501Tyr	missense variant	-	chrX:g.80031050C>A	NCI-TCGA
rs1466592835	p.Glu504Lys	missense variant	-	NC_000023.11:g.80031058G>A	gnomAD
NCI-TCGA novel	p.Glu504Ter	stop gained	-	chrX:g.80031058G>T	NCI-TCGA
rs773849952	p.Gly505Val	missense variant	-	NC_000023.11:g.80031062G>T	ExAC,gnomAD
rs1366025063	p.Lys506Glu	missense variant	-	NC_000023.11:g.80031064A>G	TOPMed
rs759090332	p.Cys507Trp	missense variant	-	NC_000023.11:g.80031069T>G	1000Genomes,ExAC,gnomAD
rs371101114	p.Cys507Arg	missense variant	-	NC_000023.11:g.80031067T>C	ESP,ExAC,TOPMed,gnomAD
rs1405877376	p.Val510Ala	missense variant	-	NC_000023.11:g.80031077T>C	TOPMed
rs1380250965	p.His511Arg	missense variant	-	NC_000023.11:g.80031080A>G	TOPMed,gnomAD
rs374690782	p.Trp512Cys	missense variant	-	NC_000023.11:g.80031084G>C	ESP,ExAC,TOPMed,gnomAD
rs754291870	p.Trp512Ser	missense variant	-	NC_000023.11:g.80031083G>C	ExAC,gnomAD
rs374690782	p.Trp512Cys	missense variant	-	NC_000023.11:g.80031084G>T	ESP,ExAC,TOPMed,gnomAD
rs764594284	p.Pro514Ser	missense variant	-	NC_000023.11:g.80031088C>T	1000Genomes
rs201336957	p.Ala515Glu	missense variant	-	NC_000023.11:g.80031092C>A	ExAC,TOPMed,gnomAD
RCV000330393	p.Ala515Glu	missense variant	Cleft palate X-linked (CPX)	NC_000023.11:g.80031092C>A	ClinVar
COSM5610741	p.His518Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80031100C>A	NCI-TCGA Cosmic
rs751233114	p.His518Tyr	missense variant	-	NC_000023.11:g.80031100C>T	ExAC,gnomAD
rs756659631	p.His518Arg	missense variant	-	NC_000023.11:g.80031101A>G	ExAC,TOPMed,gnomAD
rs1458690652	p.Leu520Val	missense variant	-	NC_000023.11:g.80031106C>G	gnomAD
rs750415957	p.Ala2Thr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034550G>A	ExAC,gnomAD
rs755916335	p.Ser4Asn	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034557G>A	ExAC,gnomAD
rs766283070	p.Ser5Tyr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034560C>A	ExAC,gnomAD
rs551664098	p.Arg6Pro	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034563G>C	ExAC,gnomAD
rs551664098	p.Arg6Leu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034563G>T	ExAC,gnomAD
rs1450772358	p.Arg8Cys	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034568C>T	TOPMed,gnomAD
rs915850492	p.Arg8Leu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034569G>T	TOPMed,gnomAD
rs1300365859	p.Phe10Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034575T>C	TOPMed,gnomAD
rs1476956919	p.Ser11Cys	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034578C>G	gnomAD
rs150098741	p.Ser11Thr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034577T>A	ESP,ExAC,TOPMed,gnomAD
rs1193056525	p.Gly17Trp	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034595G>T	gnomAD
rs748304646	p.Gly17Glu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034596G>A	ExAC,gnomAD
rs1395804892	p.Arg18Ile	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034599G>T	gnomAD
rs758506603	p.Pro19His	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034602C>A	ExAC,TOPMed,gnomAD
rs778207010	p.Ser20Ile	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034605G>T	ExAC,gnomAD
rs771215994	p.Gln25Glu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034619C>G	ExAC,gnomAD
rs781665863	p.Asp26His	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034622G>C	ExAC,gnomAD
rs148838409	p.Ile28Met	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034630A>G	ESP,ExAC
rs768403428	p.Ala30Val	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034635C>T	ExAC,TOPMed,gnomAD
rs768403428	p.Ala30Glu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034635C>A	ExAC,TOPMed,gnomAD
rs761364666	p.Glu31Gln	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034637G>C	ExAC,TOPMed,gnomAD
rs771728632	p.Leu35Gln	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034650T>A	ExAC,gnomAD
rs917472096	p.Arg36Trp	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034652C>T	TOPMed,gnomAD
rs1223023604	p.Arg36Gln	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034653G>A	gnomAD
rs371055319	p.Glu37Lys	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034655G>A	1000Genomes,ExAC,gnomAD
rs753716446	p.Lys39Met	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034662A>T	ExAC,gnomAD
rs759649828	p.Glu42Lys	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034670G>A	ExAC,TOPMed,gnomAD
rs1381212092	p.Glu43Lys	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034673G>A	TOPMed
rs950279249	p.Glu45Lys	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034679G>A	TOPMed,gnomAD
rs1445755500	p.Glu45Gly	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034680A>G	gnomAD
rs765461432	p.Glu46Asp	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034684G>C	ExAC,gnomAD
rs1378785446	p.Arg48Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034690G>C	gnomAD
rs758412350	p.Ser49Thr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034692G>C	ExAC,gnomAD
rs752888029	p.Ser49Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034691A>C	ExAC,TOPMed,gnomAD
rs1361763002	p.Ser50Asn	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034695G>A	TOPMed
rs1385199095	p.Ala52Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034700G>T	gnomAD
rs1331608078	p.Gly53Glu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034704G>A	TOPMed,gnomAD
rs1331608078	p.Gly53Ala	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034704G>C	TOPMed,gnomAD
rs757815223	p.Ser55Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034711C>G	ExAC,gnomAD
rs1339818189	p.Ser55Ile	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034710G>T	gnomAD
rs104894945	p.Glu56Ter	stop gained	-	CHR_HSCHRX_2_CTG12:g.80034712G>T	TOPMed,gnomAD
rs1351169817	p.Glu56Asp	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034714G>C	gnomAD
rs1351169817	p.Glu56Asp	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034714G>T	gnomAD
rs104894945	p.Glu56Gln	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034712G>C	TOPMed,gnomAD
rs781388378	p.Pro57Thr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034715C>A	ExAC,TOPMed,gnomAD
rs770084170	p.Pro57Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034716C>G	ExAC,gnomAD
rs781388378	p.Pro57Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034715C>T	ExAC,TOPMed,gnomAD
rs770084170	p.Pro57Leu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034716C>T	ExAC,gnomAD
rs778577936	p.Leu58Phe	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034718C>T	ExAC,gnomAD
rs747809017	p.Glu59Lys	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034721G>A	ExAC,gnomAD
rs1328828965	p.Gln61Lys	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035342C>A	TOPMed
rs1402938365	p.Pro62Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035346C>G	TOPMed
rs376071635	p.Thr64Ala	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035351A>G	ESP,ExAC,gnomAD
rs1355613525	p.Thr68Ile	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035364C>T	gnomAD
rs758173485	p.Ser69Pro	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035366T>C	ExAC,gnomAD
rs777388281	p.Ala70Val	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035370C>T	ExAC
rs1171603763	p.Ser72Phe	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035376C>T	TOPMed
rs1461373694	p.Gly73Asp	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035379G>A	gnomAD
rs1298540656	p.Cys74Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035381T>C	gnomAD
rs1423081813	p.Asp77Asn	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035390G>A	TOPMed
rs369384425	p.Ser78Asn	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035394G>A	ESP,ExAC,TOPMed,gnomAD
rs776576140	p.Tyr80Asn	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035399T>A	ExAC,gnomAD
rs769623927	p.Gly81Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035402G>C	ExAC,TOPMed,gnomAD
rs769623927	p.Gly81Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035402G>A	ExAC,TOPMed,gnomAD
rs1205788287	p.Ser83Cys	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035408A>T	gnomAD
rs1487737018	p.Ser84Cys	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035412C>G	TOPMed,gnomAD
rs764339429	p.Asp91Tyr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035432G>T	ExAC,gnomAD
rs764339429	p.Asp91Asn	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035432G>A	ExAC,gnomAD
rs1456246678	p.Asp91Val	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035433A>T	TOPMed
rs774586316	p.Ile92Thr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035436T>C	ExAC,gnomAD
rs1480550016	p.Met94Val	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035441A>G	gnomAD
rs1016944586	p.Glu95Asp	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035446G>C	TOPMed,gnomAD
rs1296394114	p.Gly98Val	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035454G>T	TOPMed,gnomAD
rs1296394114	p.Gly98Glu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035454G>A	TOPMed,gnomAD
rs1367758632	p.Leu101Met	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035462C>A	TOPMed
rs137989876	p.Leu101Gln	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035463T>A	ESP,ExAC,TOPMed,gnomAD
rs377085198	p.Asp107Gly	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035481A>G	ESP,TOPMed,gnomAD
rs1379493336	p.Gly109Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035486G>A	TOPMed
rs1456235873	p.Ile113Met	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035500C>G	gnomAD
rs369779825	p.Ala117Thr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035510G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369779825	p.Ala117Pro	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035510G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1385589233	p.Arg120Gln	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036342G>A	TOPMed,gnomAD
rs1162711332	p.Arg120Gly	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036341C>G	gnomAD
rs761944554	p.Val125Ile	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036356G>A	ExAC,gnomAD
rs201456134	p.Arg126Gln	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036360G>A	1000Genomes,ExAC,gnomAD
rs773214100	p.Lys128Asn	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036367G>C	ExAC,TOPMed,gnomAD
rs1431655517	p.Gly131Val	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036375G>T	gnomAD
rs766953495	p.Pro134Thr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036383C>A	ExAC,gnomAD
rs766953495	p.Pro134Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036383C>T	ExAC,gnomAD
rs759370678	p.Tyr138His	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036395T>C	1000Genomes,ExAC,gnomAD
rs765704978	p.His139Tyr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036398C>T	ExAC,TOPMed,gnomAD
rs751216592	p.Val140Leu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036401G>T	ExAC,gnomAD
rs1403650886	p.Asp143Asn	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036410G>A	TOPMed
rs1215959489	p.Val145Met	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036416G>A	gnomAD
rs756913403	p.Pro146Leu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036420C>T	ExAC,TOPMed,gnomAD
rs756913403	p.Pro146Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036420C>G	ExAC,TOPMed,gnomAD
rs1182860071	p.Val147Met	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036422G>A	gnomAD
rs1446264071	p.Ser149Phe	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036429C>T	gnomAD
rs1156605251	p.Lys150Gln	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036431A>C	TOPMed,gnomAD
rs368136178	p.Arg151His	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036435G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs368136178	p.Arg151Leu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036435G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1407601790	p.Arg151Cys	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036434C>T	TOPMed,gnomAD
rs1470650923	p.Val155Ile	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037884G>A	gnomAD
rs1343056432	p.Val155Ala	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037885T>C	TOPMed,gnomAD
rs1423305487	p.Tyr156Cys	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037888A>G	TOPMed,gnomAD
rs760190777	p.His157Tyr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037890C>T	ExAC,gnomAD
rs1177244637	p.Ser158Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037893A>C	gnomAD
rs1185725124	p.Gln160Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037900A>G	TOPMed
rs765680258	p.Val163Ala	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037909T>C	ExAC,TOPMed,gnomAD
rs1328608615	p.Thr167Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037921C>G	gnomAD
rs1336674612	p.His169Gln	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037928T>A	gnomAD
rs761492404	p.Leu170Phe	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037931G>T	ExAC
rs767034098	p.Cys171Tyr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037933G>A	ExAC,gnomAD
rs963408036	p.Ile172Leu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037935A>C	TOPMed
rs755501455	p.Phe176Leu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037947T>C	1000Genomes,ExAC,gnomAD
rs1222428638	p.Tyr177His	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037950T>C	gnomAD
rs1193114601	p.Val178Ala	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037954T>C	TOPMed
rs779543847	p.Pro180Leu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037960C>T	ExAC,TOPMed,gnomAD
rs778648477	p.Pro183Thr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037968C>A	ExAC,gnomAD
rs765734398	p.Ser185Leu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037975C>T	ExAC,TOPMed,gnomAD
rs34244923	p.Glu187Lys	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037980G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1431456050	p.Thr188Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037983A>T	gnomAD
rs993952750	p.Arg191Trp	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037992C>T	TOPMed,gnomAD
rs747262805	p.Arg191Gln	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037993G>A	ExAC,TOPMed,gnomAD
rs747262805	p.Arg191Leu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037993G>T	ExAC,TOPMed,gnomAD
rs1398927099	p.Asp197Gly	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038011A>G	TOPMed
rs200542790	p.Arg198Leu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038014G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs776905471	p.Arg198Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038013C>A	ExAC,gnomAD
rs200542790	p.Arg198His	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038014G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs770461385	p.Met199Val	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038016A>G	ExAC,gnomAD
rs1403879065	p.Met199Ile	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038018G>A	gnomAD
rs776093447	p.Asn203Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038029A>G	ExAC,gnomAD
rs763177430	p.Asp207Val	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038041A>T	ExAC,gnomAD
rs1224588185	p.Asp208Gly	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038044A>G	gnomAD
rs772672988	p.Gly210Asp	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038050G>A	ExAC,gnomAD
rs764530704	p.Gly210Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038049G>A	ExAC,gnomAD
rs772672988	p.Gly210Ala	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038050G>C	ExAC,gnomAD
rs747225015	p.Gln215His	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038992A>T	ExAC,gnomAD
rs757598908	p.His218Asn	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038999C>A	ExAC,TOPMed,gnomAD
rs1449258747	p.Tyr220Asp	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039005T>G	gnomAD
rs781385178	p.Pro222Thr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039011C>A	ExAC,gnomAD
rs1445663868	p.Val224Met	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039017G>A	gnomAD
rs141355013	p.His225Tyr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039020C>T	ESP,TOPMed,gnomAD
rs775801815	p.Val226Met	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039023G>A	ExAC,TOPMed,gnomAD
rs368794829	p.Glu228Lys	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039029G>A	ESP,TOPMed
rs749803887	p.Gly230Asp	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039036G>A	ExAC,gnomAD
rs1298302616	p.Ser232Asn	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039042G>A	TOPMed
rs370372482	p.Val233Ile	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039044G>A	ESP,ExAC,TOPMed,gnomAD
rs774836026	p.Asp234Glu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039049C>G	ExAC,TOPMed,gnomAD
rs1305092063	p.Ser236Phe	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039054C>T	TOPMed
rs992907062	p.Gln237Pro	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039057A>C	TOPMed,gnomAD
rs765976780	p.Pro242Thr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039071C>A	ExAC,gnomAD
rs1316821118	p.Thr243Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039074A>T	TOPMed,gnomAD
rs1316821118	p.Thr243Ala	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039074A>G	TOPMed,gnomAD
rs1238545711	p.Gly245Asp	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039081G>A	gnomAD
rs758990043	p.Glu255Gly	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039111A>G	ExAC
rs764811230	p.Thr257Ile	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039117C>T	ExAC,gnomAD
rs764811230	p.Thr257Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039117C>G	ExAC,gnomAD
rs758424012	p.Thr258Ile	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039120C>T	ExAC,gnomAD
rs759255355	p.Ile267Phe	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039533A>T	ExAC,TOPMed,gnomAD
rs759255355	p.Ile267Val	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039533A>G	ExAC,TOPMed,gnomAD
rs769176901	p.Thr268Lys	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039537C>A	ExAC,TOPMed,gnomAD
rs769176901	p.Thr268Met	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039537C>T	ExAC,TOPMed,gnomAD
rs769176901	p.Thr268Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039537C>G	ExAC,TOPMed,gnomAD
rs1206744172	p.Glu273Gly	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039552A>G	TOPMed
rs764049245	p.Pro276Thr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039560C>A	ExAC
rs1480540426	p.Lys279Glu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039569A>G	gnomAD
rs1304491827	p.Asp283Tyr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039581G>T	gnomAD
rs767423228	p.Arg288Met	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039597G>T	ExAC
rs1253379406	p.Gly289Val	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040270G>T	gnomAD
rs762472993	p.Leu291Phe	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040277G>C	ExAC,gnomAD
rs960682849	p.Gly293Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040281G>A	TOPMed,gnomAD
rs1428441084	p.Leu295Phe	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040289A>C	TOPMed
rs1259647651	p.Pro299Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040299C>T	TOPMed,gnomAD
rs371749262	p.Trp300Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040302T>C	ExAC,gnomAD
rs1490265878	p.Leu306Ile	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040320C>A	gnomAD
rs750292974	p.Asp307Asn	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040323G>A	ExAC,gnomAD
rs990805395	p.Lys309Thr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040330A>C	TOPMed
rs1320848821	p.Thr310Ile	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040333C>T	TOPMed
rs527984602	p.Ala313Thr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040341G>A	ExAC,TOPMed,gnomAD
rs767569061	p.Asp314Gly	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040345A>G	1000Genomes,ExAC,gnomAD
rs751915345	p.Gly318Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042777G>C	1000Genomes,ExAC,gnomAD
rs751915345	p.Gly318Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042777G>A	1000Genomes,ExAC,gnomAD
rs1029502810	p.Gly321Asp	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042787G>A	TOPMed
rs757798692	p.Gly321Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042786G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs752017317	p.Ser323Thr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042792T>A	ExAC,gnomAD
rs781651154	p.Val325Leu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042798G>C	1000Genomes,ExAC,gnomAD
rs1052677632	p.Thr326Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042801A>T	TOPMed,gnomAD
rs1459916896	p.Gly329Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042810G>C	TOPMed,gnomAD
rs1237797145	p.Pro332Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042819C>T	gnomAD
rs1175746187	p.Ser337Phe	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042835C>T	gnomAD
rs781474415	p.Ser337Thr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042834T>A	ExAC,TOPMed,gnomAD
rs1407487643	p.Phe344Leu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042855T>C	gnomAD
rs1030946293	p.Pro346Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042862C>G	gnomAD
rs1030946293	p.Pro346Leu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042862C>T	gnomAD
rs372948739	p.Met347Val	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042864A>G	ESP,ExAC,TOPMed,gnomAD
rs1469682502	p.Leu350Phe	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042875A>T	gnomAD
rs778535394	p.Pro351Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042876C>T	ExAC,gnomAD
rs1470640756	p.Thr352Ile	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042880C>T	TOPMed
rs747613335	p.Thr352Ala	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042879A>G	ExAC,gnomAD
rs1440442525	p.Leu355Phe	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042888C>T	gnomAD
rs374765772	p.Met357Val	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042894A>G	ESP,TOPMed
rs1277452059	p.Pro358Thr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042897C>A	gnomAD
rs369127582	p.Cys359Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042900T>A	ESP,ExAC,TOPMed,gnomAD
rs369127582	p.Cys359Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042900T>C	ESP,ExAC,TOPMed,gnomAD
rs746987550	p.Tyr363Cys	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042913A>G	ExAC,TOPMed,gnomAD
rs1202905184	p.Leu364Pro	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042916T>C	gnomAD
rs916621625	p.Pro365His	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042919C>A	TOPMed
rs769725713	p.Asn366Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042922A>G	1000Genomes
rs1279217597	p.Val367Gly	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042925T>G	gnomAD
rs1202172633	p.Pro370Leu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042934C>T	gnomAD
rs765407594	p.Cys372Tyr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042940G>A	ExAC,TOPMed,gnomAD
rs948170365	p.Cys372Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042939T>C	TOPMed
rs775706886	p.Tyr373Cys	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042943A>G	ExAC,gnomAD
rs982648449	p.Cys376Phe	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042952G>T	TOPMed,gnomAD
rs887597789	p.Thr378Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042957A>T	TOPMed
rs1177856114	p.Asn379His	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042960A>C	gnomAD
rs762959263	p.Asn379Ile	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042961A>T	ExAC,gnomAD
rs764159886	p.Phe380Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042964T>C	ExAC
rs1014775367	p.Trp381Ter	stop gained	-	CHR_HSCHRX_2_CTG12:g.80042968G>A	TOPMed
rs1014775367	p.Trp381Cys	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042968G>C	TOPMed
rs752099645	p.Trp381Leu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042967G>T	ExAC,TOPMed,gnomAD
rs1353576298	p.Gln384Lys	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042975C>A	gnomAD
rs767900601	p.Pro385Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042978C>T	ExAC
rs1343152462	p.Leu388Phe	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042989A>C	TOPMed,gnomAD
rs756577621	p.Pro389Leu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042991C>T	ExAC,gnomAD
rs141303126	p.Ala390Asp	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042994C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs189969457	p.Ala390Thr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042993G>A	1000Genomes,ExAC,gnomAD
rs992049559	p.Ala395Thr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043008G>A	TOPMed
rs940977409	p.Ser397Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043016C>A	TOPMed,gnomAD
rs1207504606	p.Asn398Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043018A>G	gnomAD
rs1025023287	p.Pro405Leu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043039C>T	TOPMed
rs1412033085	p.Met408Thr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043048T>C	TOPMed
rs1412033085	p.Met408Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043048T>G	TOPMed
rs1490218662	p.Glu409Gly	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043051A>G	TOPMed,gnomAD
rs1199668767	p.Val410Met	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043053G>A	gnomAD
rs969121159	p.Pro411Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043057C>G	TOPMed
rs1249027829	p.Met412Thr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043060T>C	gnomAD
rs770817802	p.Gly417Val	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043075G>T	ExAC,TOPMed,gnomAD
rs1167726911	p.Val418Leu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043077G>C	gnomAD
rs1167726911	p.Val418Ile	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043077G>A	gnomAD
rs1167726911	p.Val418Phe	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043077G>T	gnomAD
rs773209426	p.Gly424Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043095G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs936807563	p.Ser426Cys	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043102C>G	TOPMed,gnomAD
rs1363320972	p.Glu427Lys	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043104G>A	gnomAD
rs769585668	p.Ser430Asn	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043114G>A	ExAC,gnomAD
rs763224704	p.Asp431Glu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043118T>A	ExAC,gnomAD
rs145861460	p.Tyr433Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043123A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145861460	p.Tyr433Cys	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043123A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767870694	p.Ala436Val	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043132C>T	ExAC,gnomAD
rs750980922	p.Pro437Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043134C>T	ExAC
rs761055625	p.Asn438Asp	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043137A>G	ExAC,gnomAD
rs766918607	p.Asn441Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043147A>G	ExAC,TOPMed,gnomAD
rs774880507	p.Met443Ile	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043154G>A	gnomAD
rs1041301641	p.Asn457Asp	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043194A>G	TOPMed
rs1165036733	p.Ser458Cys	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043198C>G	gnomAD
rs1288986462	p.Ser458Pro	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043197T>C	TOPMed
rs1249151692	p.Ile459Val	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043200A>G	gnomAD
rs1451795165	p.Pro461Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043206C>T	gnomAD
rs1348703924	p.Pro461Leu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043207C>T	TOPMed
rs113672075	p.Ala463Thr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043212G>A	ExAC,TOPMed,gnomAD
rs113672075	p.Ala463Pro	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043212G>C	ExAC,TOPMed,gnomAD
rs756809972	p.Ser465Ile	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043219G>T	ExAC,gnomAD
rs750989813	p.Ser465Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043218A>C	ExAC,gnomAD
rs780937825	p.Cys466Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043221T>C	ExAC
rs1166970843	p.Cys466Phe	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043222G>T	TOPMed
rs1420275916	p.Tyr472Ter	stop gained	-	CHR_HSCHRX_2_CTG12:g.80043241T>A	TOPMed
rs1428508258	p.Asp473Tyr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043242G>T	gnomAD
rs148996612	p.Tyr475Phe	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043249A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1398432972	p.Arg476Thr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043252G>C	gnomAD
rs1488086366	p.Tyr477Ter	stop gained	-	CHR_HSCHRX_2_CTG12:g.80043256C>G	TOPMed
rs1014680559	p.Asn478Asp	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043257A>G	TOPMed,gnomAD
rs779885451	p.Phe479Leu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043262C>A	ExAC,TOPMed,gnomAD
rs749491524	p.Ser480Tyr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043264C>A	ExAC,gnomAD
rs1490458896	p.Met481Thr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043267T>C	TOPMed
rs969874867	p.Pro482Thr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043269C>A	TOPMed
rs768802533	p.Leu485Met	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043278C>A	ExAC,gnomAD
rs1245730670	p.Ile486Val	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043281A>G	gnomAD
rs897670250	p.Gly488Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043287G>A	TOPMed
rs373265224	p.Gly488Asp	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043288G>A	ESP
rs761750322	p.Asp497Asn	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043314G>A	ExAC,TOPMed,gnomAD
rs1204623529	p.Ser498Thr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043318G>C	gnomAD
rs377496944	p.Val500Ile	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043323G>A	ESP,ExAC,TOPMed,gnomAD
rs1466592835	p.Glu504Lys	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043335G>A	gnomAD
rs773849952	p.Gly505Val	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043339G>T	ExAC,gnomAD
rs1366025063	p.Lys506Glu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043341A>G	TOPMed
rs371101114	p.Cys507Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043344T>C	ESP,ExAC,TOPMed,gnomAD
rs759090332	p.Cys507Trp	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043346T>G	1000Genomes,ExAC,gnomAD
rs1405877376	p.Val510Ala	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043354T>C	TOPMed
rs1380250965	p.His511Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043357A>G	TOPMed,gnomAD
rs754291870	p.Trp512Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043360G>C	ExAC,gnomAD
rs374690782	p.Trp512Cys	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043361G>C	ESP,ExAC,TOPMed,gnomAD
rs374690782	p.Trp512Cys	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043361G>T	ESP,ExAC,TOPMed,gnomAD
rs764594284	p.Pro514Ser	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043365C>T	1000Genomes
rs201336957	p.Ala515Glu	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043369C>A	ExAC,TOPMed,gnomAD
rs756659631	p.His518Arg	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043378A>G	ExAC,TOPMed,gnomAD
rs751233114	p.His518Tyr	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043377C>T	ExAC,gnomAD
rs1458690652	p.Leu520Val	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043383C>G	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0003886	Arthrogryposis	disease	GENOMICS_ENGLAND
C0008924	Cleft upper lip	disease	BEFREE
C0008925	Cleft Palate	disease	BEFREE;LHGDN
C0009363	Congenital ocular coloboma (disorder)	disease	HPO
C0010674	Cystic Fibrosis	disease	BEFREE
C0011053	Deafness	phenotype	HPO
C0018772	Hearing Loss, Partial	phenotype	HPO
C0018784	Sensorineural Hearing Loss (disorder)	disease	HPO
C0020608	Hypodontia	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0152415	Ankyloglossia	disease	BEFREE;HPO
C0152421	Macrotia	disease	HPO
C0152427	Polydactyly	disease	GENOMICS_ENGLAND
C0158761	Radioulnar Synostosis	disease	HPO
C0231679	Ulnar deviation of the fingers	phenotype	HPO
C0240063	Coloboma of iris	phenotype	HPO
C0240896	Fundus coloboma	disease	HPO
C0266122	Cleft uvula	disease	HPO
C0272138	Erythroblastosis	disease	BEFREE
C0339789	Congenital deafness	disease	HPO
C0349588	Short stature	phenotype	HPO
C0424295	Hyperactive behavior	phenotype	BEFREE
C0432103	Submucous cleft of hard palate	disease	BEFREE
C0554972	Large auricle	phenotype	HPO
C0848558	Hypospadias	group	HPO
C1305420	Prominent ear	phenotype	HPO
C1384666	hearing impairment	phenotype	HPO
C1394030	Coronal hypospadias	disease	HPO
C1527249	Colorectal Cancer	disease	UNIPROT
C1691215	Penile hypospadias	disease	HPO
C1737329	Dysmorphism	disease	BEFREE
C1837218	Cleft palate, isolated	disease	BEFREE
C1844830	CLEFT PALATE, X-LINKED	disease	BEFREE;CTD_human;MGD;UNIPROT
C1844831	Cleft Palate with Ankyloglossia	disease	BEFREE;CLINVAR
C1844862	Abruzzo Erickson syndrome	disease	BEFREE;CLINVAR;CTD_human;ORPHANET
C1850189	Large pinnae	phenotype	HPO
C1853241	Flat face	phenotype	HPO
C1855285	Protruding ear	phenotype	HPO
C1858085	Malar flattening	phenotype	HPO
C2981150	Uranostaphyloschisis	disease	BEFREE;HPO
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C4020787	Subcoronal hypospadias	disease	HPO
C4280651	Hypotrophic malar bone	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IDA
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:0003677	DNA binding	IDA
GO:0003700	DNA-binding transcription factor activity	TAS
GO:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA
GO:0001708	cell fate specification	IBA
GO:0006355	regulation of transcription, DNA-templated	TAS
GO:0007275	multicellular organism development	TAS
GO:0045892	negative regulation of transcription, DNA-templated	IDA
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	IDA
GO:0005634	nucleus	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
D020106	Acrylamide	Acrylamide results in decreased expression of TBX22 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of TBX22 gene	27153756
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in decreased expression of TBX22 mRNA	21298039
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of TBX22 mRNA	22228805
C006780	bisphenol A	bisphenol A affects the methylation of TBX22 promoter	27334623
C006780	bisphenol A	bisphenol A results in decreased expression of TBX22 mRNA	25181051; 31129395;
D000077209	Decitabine	Decitabine results in decreased expression of TBX22 mRNA	27915011
D003703	Demecolcine	Demecolcine results in increased expression of TBX22 mRNA	23649840
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of TBX22 mRNA	31163220
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of TBX22 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of TBX22 mRNA	25554681
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of TBX22 mRNA	24058054
C009495	titanium dioxide	titanium dioxide results in decreased expression of TBX22 mRNA	29264374
D014750	Vincristine	Vincristine results in increased expression of TBX22 mRNA	23649840

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0209	Deafness
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0242	Dwarfism
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: TBX22

Basic information

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

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction