CleftGeneDB-Search

Gene: ASXL1

Basic information

Tag	Content
Uniprot ID	Q8IXJ9; B2RP59; Q5JWS9; Q8IYY7; Q9H466; Q9NQF8; Q9UFJ0; Q9UFP8; Q9Y2I4;
Entrez ID	171023
Genbank protein ID	AAI37279.1; CAB56029.2; CAB55975.1; CAD27708.1; BAA76822.2; AAI37281.1; AAH33284.1;
Genbank nucleotide ID	NM_015338.5
Ensembl protein ID	ENSP00000364839; ENSP00000481978; ENSP00000480487;
Ensembl nucleotide ID	ENSG00000171456
Gene name	Polycomb group protein ASXL1
Gene symbol	ASXL1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG) (PubMed:16606617). Acts as coactivator of RARA and RXRA through association with NCOA1 (PubMed:16606617). Acts as corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity (By similarity). Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1) (PubMed:20436459). Acts as a sensor of N(6)-methyladenosine methylation on DNA (m6A): recognizes and binds m6A DNA, leading to its ubiquitination and degradation by TRIP12, thereby inactivating the PR-DUB complex and regulating Polycomb silencing (PubMed:30982744).
Sequence	MKDKQKKKKE RTWAEAARLV LENYSDAPMT PKQILQVIEA EGLKEMRSGT SPLACLNAML 60 HSNSRGGEGL FYKLPGRISL FTLKKDALQW SRHPATVEGE EPEDTADVES CGSNEASTVS 120 GENDVSLDET SSNASCSTES QSRPLSNPRD SYRASSQANK QKKKTGVMLP RVVLTPLKVN 180 GAHVESASGF SGCHADGESG SPSSSSSGSL ALGSAAIRGQ AEVTQDPAPL LRGFRKPATG 240 QMKRNRGEEI DFETPGSILV NTNLRALINS RTFHALPSHF QQQLLFLLPE VDRQVGTDGL 300 LRLSSSALNN EFFTHAAQSW RERLADGEFT HEMQVRIRQE MEKEKKVEQW KEKFFEDYYG 360 QKLGLTKEES LQQNVGQEEA EIKSGLCVPG ESVRIQRGPA TRQRDGHFKK RSRPDLRTRA 420 RRNLYKKQES EQAGVAKDAK SVASDVPLYK DGEAKTDPAG LSSPHLPGTS SAAPDLEGPE 480 FPVESVASRI QAEPDNLARA SASPDRIPSL PQETVDQEPK DQKRKSFEQA ASASFPEKKP 540 RLEDRQSFRN TIESVHTEKP QPTKEEPKVP PIRIQLSRIK PPWVVKGQPT YQICPRIIPT 600 TESSCRGWTG ARTLADIKAR ALQVRGARGH HCHREAATTA IGGGGGPGGG GGGATDEGGG 660 RGSSSGDGGE ACGHPEPRGG PSTPGKCTSD LQRTQLLPPY PLNGEHTQAG TAMSRARRED 720 LPSLRKEESC LLQRATVGLT DGLGDASQLP VAPTGDQPCQ ALPLLSSQTS VAERLVEQPQ 780 LHPDVRTECE SGTTSWESDD EEQGPTVPAD NGPIPSLVGD DTLEKGTGQA LDSHPTMKDP 840 VNVTPSSTPE SSPTDCLQNR AFDDELGLGG SCPPMRESDT RQENLKTKAL VSNSSLHWIP 900 IPSNDEVVKQ PKPESREHIP SVEPQVGEEW EKAAPTPPAL PGDLTAEEGL DPLDSLTSLW 960 TVPSRGGSDS NGSYCQQVDI EKLKINGDSE ALSPHGESTD TASDFEGHLT EDSSEADTRE 1020 AAVTKGSSVD KDEKPNWNQS APLSKVNGDM RLVTRTDGMV APQSWVSRVC AVRQKIPDSL 1080 LLASTEYQPR AVCLSMPGSS VEATNPLVMQ LLQGSLPLEK VLPPAHDDSM SESPQVPLTK 1140 DQSHGSLRMG SLHGLGKNSG MVDGSSPSSL RALKEPLLPD SCETGTGLAR IEATQAPGAP 1200 QKNCKAVPSF DSLHPVTNPI TSSRKLEEMD SKEQFSSFSC EDQKEVRAMS QDSNSNAAPG 1260 KSPGDLTTSR TPRFSSPNVI SFGPEQTGRA LGDQSNVTGQ GKKLFGSGNV AATLQRPRPA 1320 DPMPLPAEIP PVFPSGKLGP STNSMSGGVQ TPREDWAPKP HAFVGSVKNE KTFVGGPLKA 1380 NAENRKATGH SPLELVGHLE GMPFVMDLPF WKLPREPGKG LSEPLEPSSL PSQLSIKQAF 1440 YGKLSKLQLS STSFNYSSSS PTFPKGLAGS VVQLSHKANF GASHSASLSL QMFTDSSTVE 1500 SISLQCACSL KAMIMCQGCG AFCHDDCIGP SKLCVLCLVV R 1541

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	Species	Evidence	Details
1:1 ortholog	ASXL1		A0A452G2F5		Capra hircus	Prediction	More>>
1:1 ortholog	ASXL1	171023	Q8IXJ9		Homo sapiens	Prediction	More>>
1:1 ortholog	Asxl1	228790	P59598	CPO	Mus musculus	Publication	More>>
1:1 ortholog	ASXL1		H2R3B7		Pan troglodytes	Prediction	More>>
1:1 ortholog	Asxl1		A0A0G2JU33		Rattus norvegicus	Prediction	More>>
1:1 ortholog	asxl1		F1RC47		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1362206875	p.Asp3Asn	missense variant	-	NC_000020.11:g.32358782G>A	gnomAD
rs1254502448	p.Gln5Arg	missense variant	-	NC_000020.11:g.32358789A>G	TOPMed
rs1292736851	p.Lys9Glu	missense variant	-	NC_000020.11:g.32358800A>G	gnomAD
rs886129274	p.Lys9Arg	missense variant	-	NC_000020.11:g.32358801A>G	TOPMed
rs1365687375	p.Ala14Val	missense variant	-	NC_000020.11:g.32358816C>T	gnomAD
rs1464069229	p.Glu15Lys	missense variant	-	NC_000020.11:g.32358818G>A	TOPMed
rs1302023145	p.Arg18Ser	missense variant	-	NC_000020.11:g.32358827C>A	gnomAD
NCI-TCGA novel	p.Glu22Lys	missense variant	-	NC_000020.11:g.32366390G>A	NCI-TCGA
rs775831641	p.Glu22Gly	missense variant	-	NC_000020.11:g.32366391A>G	ExAC,gnomAD
rs1219695894	p.Ser25Leu	missense variant	-	NC_000020.11:g.32366400C>T	gnomAD
rs769223128	p.Met29Leu	missense variant	-	NC_000020.11:g.32366411A>T	ExAC,gnomAD
rs769223128	p.Met29Val	missense variant	-	NC_000020.11:g.32366411A>G	ExAC,gnomAD
NCI-TCGA novel	p.Met29Thr	missense variant	-	NC_000020.11:g.32366412T>C	NCI-TCGA
rs1378562189	p.Thr30Ala	missense variant	-	NC_000020.11:g.32366414A>G	TOPMed
rs1178102908	p.Pro31Ser	missense variant	-	NC_000020.11:g.32366417C>T	gnomAD
rs1192808397	p.Gln33Glu	missense variant	-	NC_000020.11:g.32366423C>G	TOPMed
COSM1025714	p.Leu35Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32366429C>A	NCI-TCGA Cosmic
rs1378944067	p.Val37Ile	missense variant	-	NC_000020.11:g.32366435G>A	gnomAD
RCV000481449	p.Glu39Ter	frameshift	-	NC_000020.11:g.32366440dup	ClinVar
NCI-TCGA novel	p.Glu39Lys	missense variant	-	NC_000020.11:g.32366441G>A	NCI-TCGA
rs774677279	p.Ala40Val	missense variant	-	NC_000020.11:g.32366445C>T	ExAC,gnomAD
COSM159234	p.Glu41Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32366447G>A	NCI-TCGA Cosmic
COSM279013	p.Gly42Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32366450G>T	NCI-TCGA Cosmic
COSM4391402	p.Gly42Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32366450G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys44Gln	missense variant	-	NC_000020.11:g.32366456A>C	NCI-TCGA
rs143594461	p.Glu45Gln	missense variant	-	NC_000020.11:g.32366459G>C	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Met46Thr	missense variant	-	NC_000020.11:g.32366463T>C	NCI-TCGA
rs1404369258	p.Met46Val	missense variant	-	NC_000020.11:g.32366462A>G	TOPMed,gnomAD
rs772252001	p.Met46Ile	missense variant	-	NC_000020.11:g.32366464G>T	ExAC,gnomAD
rs567076886	p.Ser48Asn	missense variant	-	NC_000020.11:g.32367729G>A	1000Genomes
rs1355901469	p.Gly49Glu	missense variant	-	NC_000020.11:g.32369017G>A	gnomAD
NCI-TCGA novel	p.Thr50Asn	missense variant	-	NC_000020.11:g.32369020C>A	NCI-TCGA
rs763956931	p.Thr50Ala	missense variant	-	NC_000020.11:g.32369019A>G	ExAC,gnomAD
rs1276613425	p.Ser51Tyr	missense variant	-	NC_000020.11:g.32369023C>A	TOPMed,gnomAD
rs1190203873	p.Pro52Ala	missense variant	-	NC_000020.11:g.32369025C>G	gnomAD
rs867857427	p.Ala54Ser	missense variant	-	NC_000020.11:g.32369031G>T	TOPMed,gnomAD
rs867857427	p.Ala54Thr	missense variant	-	NC_000020.11:g.32369031G>A	TOPMed,gnomAD
COSM329152	p.Cys55Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32369034T>A	NCI-TCGA Cosmic
rs1426548051	p.Leu56Val	missense variant	-	NC_000020.11:g.32369037C>G	TOPMed
COSM4097537	p.Leu56Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32369037C>A	NCI-TCGA Cosmic
rs147225073	p.Asn57Ser	missense variant	-	NC_000020.11:g.32369041A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu60Pro	missense variant	-	NC_000020.11:g.32369050T>C	NCI-TCGA
rs1214819445	p.Glu68Gly	missense variant	-	NC_000020.11:g.32369074A>G	TOPMed
rs1376615013	p.Leu70Trp	missense variant	-	NC_000020.11:g.32369080T>G	gnomAD
rs778374087	p.Tyr72Cys	missense variant	-	NC_000020.11:g.32369086A>G	ExAC,gnomAD
RCV000578382	p.Lys73Ter	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32369088A>T	ClinVar
rs1555901138	p.Lys73Ter	stop gained	-	NC_000020.11:g.32369088A>T	-
NCI-TCGA novel	p.Arg77Gly	missense variant	-	NC_000020.11:g.32369100C>G	NCI-TCGA
rs1375830737	p.Arg77Ter	stop gained	-	NC_000020.11:g.32369100C>T	gnomAD
rs747116564	p.Ile78Val	missense variant	-	NC_000020.11:g.32369103A>G	ExAC,gnomAD
rs1296130945	p.Ser79Asn	missense variant	-	NC_000020.11:g.32369107G>A	gnomAD
rs1364292412	p.Leu80Arg	missense variant	-	NC_000020.11:g.32369110T>G	gnomAD
rs543111241	p.Phe81Ser	missense variant	-	NC_000020.11:g.32369113T>C	1000Genomes,ExAC
rs746065571	p.Thr82Ala	missense variant	-	NC_000020.11:g.32369115A>G	ExAC,gnomAD
rs769697612	p.Thr82Met	missense variant	-	NC_000020.11:g.32369116C>T	ExAC,TOPMed,gnomAD
rs1237126623	p.Leu83Val	missense variant	-	NC_000020.11:g.32369118C>G	gnomAD
rs762682866	p.Lys84Arg	missense variant	-	NC_000020.11:g.32369122A>G	ExAC,gnomAD
rs1285219133	p.Lys84Gln	missense variant	-	NC_000020.11:g.32369121A>C	TOPMed
rs758884216	p.Lys85Arg	missense variant	-	NC_000020.11:g.32428129A>G	ExAC,TOPMed,gnomAD
rs764542386	p.Ala87Ser	missense variant	-	NC_000020.11:g.32428134G>T	ExAC,gnomAD
rs752178487	p.Gln89Lys	missense variant	-	NC_000020.11:g.32428140C>A	ExAC,TOPMed,gnomAD
rs201743181	p.Gln89Arg	missense variant	-	NC_000020.11:g.32428141A>G	gnomAD
COSM478001	p.Ser91Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32428147C>G	NCI-TCGA Cosmic
rs745960978	p.Arg92His	missense variant	-	NC_000020.11:g.32428150G>A	ExAC,TOPMed,gnomAD
rs781684559	p.Arg92Cys	missense variant	-	NC_000020.11:g.32428149C>T	ExAC,gnomAD
rs756181482	p.Thr96Ala	missense variant	-	NC_000020.11:g.32428161A>G	ExAC,gnomAD
rs1363691379	p.Val97Ala	missense variant	-	NC_000020.11:g.32428165T>C	gnomAD
rs780298865	p.Glu103Asp	missense variant	-	NC_000020.11:g.32428184G>T	ExAC,gnomAD
COSM3991628	p.Glu103Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32428183A>G	NCI-TCGA Cosmic
rs749495615	p.Thr105Met	missense variant	-	NC_000020.11:g.32428189C>T	ExAC,TOPMed,gnomAD
rs1460731601	p.Ala106Thr	missense variant	-	NC_000020.11:g.32428191G>A	TOPMed
rs1375139737	p.Val108Met	missense variant	-	NC_000020.11:g.32428197G>A	TOPMed
rs1209393404	p.Ser110Asn	missense variant	-	NC_000020.11:g.32428204G>A	gnomAD
rs987968539	p.Cys111Tyr	missense variant	-	NC_000020.11:g.32428207G>A	TOPMed,gnomAD
rs1486567989	p.Gly112Glu	missense variant	-	NC_000020.11:g.32428210G>A	gnomAD
rs1188392212	p.Ser113Phe	missense variant	-	NC_000020.11:g.32428213C>T	gnomAD
rs1262669969	p.Glu115Lys	missense variant	-	NC_000020.11:g.32428218G>A	gnomAD
rs1474560744	p.Ala116Thr	missense variant	-	NC_000020.11:g.32428221G>A	gnomAD
rs1188313924	p.Ser117Arg	missense variant	-	NC_000020.11:g.32428224A>C	gnomAD
rs778679424	p.Thr118Ser	missense variant	-	NC_000020.11:g.32428228C>G	ExAC,gnomAD
rs1174650406	p.Val119Gly	missense variant	-	NC_000020.11:g.32428231T>G	gnomAD
rs1414383610	p.Val119Met	missense variant	-	NC_000020.11:g.32428230G>A	TOPMed,gnomAD
rs1414383610	p.Val119Leu	missense variant	-	NC_000020.11:g.32428230G>C	TOPMed,gnomAD
COSM1025716	p.Ser120Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32428234G>A	NCI-TCGA Cosmic
rs913768599	p.Asn123Ser	missense variant	-	NC_000020.11:g.32428243A>G	TOPMed
rs771925643	p.Asp124Asn	missense variant	-	NC_000020.11:g.32428245G>A	ExAC,gnomAD
rs1247216500	p.Asp128His	missense variant	-	NC_000020.11:g.32428333G>C	gnomAD
rs1454605216	p.Thr130Ile	missense variant	-	NC_000020.11:g.32428340C>T	gnomAD
rs370054224	p.Ser132Leu	missense variant	-	NC_000020.11:g.32428346C>T	ESP,ExAC,TOPMed,gnomAD
rs779057252	p.Ser132Pro	missense variant	-	NC_000020.11:g.32428345T>C	ExAC
rs777619874	p.Ala134Thr	missense variant	-	NC_000020.11:g.32428351G>A	ExAC,TOPMed,gnomAD
rs1308232911	p.Ser135Ala	missense variant	-	NC_000020.11:g.32428354T>G	gnomAD
rs746954131	p.Ser135Cys	missense variant	-	NC_000020.11:g.32428355C>G	ExAC,gnomAD
rs1308232911	p.Ser135Pro	missense variant	-	NC_000020.11:g.32428354T>C	gnomAD
COSM6092858	p.Ser135Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32428355C>A	NCI-TCGA Cosmic
rs1285138418	p.Ser137Phe	missense variant	-	NC_000020.11:g.32428361C>T	TOPMed,gnomAD
rs1285138418	p.Ser137Cys	missense variant	-	NC_000020.11:g.32428361C>G	TOPMed,gnomAD
rs1451270158	p.Gln141Glu	missense variant	-	NC_000020.11:g.32428372C>G	gnomAD
rs776287321	p.Ser142Gly	missense variant	-	NC_000020.11:g.32428375A>G	ExAC,gnomAD
rs1469281991	p.Ser142Asn	missense variant	-	NC_000020.11:g.32428376G>A	gnomAD
rs1179121574	p.Arg143Ter	stop gained	-	NC_000020.11:g.32428378C>T	TOPMed
rs144437064	p.Arg143Gln	missense variant	-	NC_000020.11:g.32428379G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144437064	p.Arg143Leu	missense variant	-	NC_000020.11:g.32428379G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769594900	p.Leu145Phe	missense variant	-	NC_000020.11:g.32428384C>T	ExAC,gnomAD
rs1159519046	p.Ser146Phe	missense variant	-	NC_000020.11:g.32428388C>T	gnomAD
rs775171131	p.Ser146Thr	missense variant	-	NC_000020.11:g.32428387T>A	ExAC,gnomAD
RCV000171344	p.Ser151Arg	missense variant	-	NC_000020.11:g.32428404C>A	ClinVar
rs750955319	p.Ser151Arg	missense variant	-	NC_000020.11:g.32428404C>A	ExAC,gnomAD
rs767904889	p.Ser151Gly	missense variant	-	NC_000020.11:g.32428402A>G	ExAC,TOPMed,gnomAD
rs1396093056	p.Tyr152Cys	missense variant	-	NC_000020.11:g.32428406A>G	gnomAD
NCI-TCGA novel	p.Gln157His	missense variant	-	NC_000020.11:g.32428422G>T	NCI-TCGA
rs867244048	p.Gln157Arg	missense variant	-	NC_000020.11:g.32428421A>G	gnomAD
rs867244048	p.Gln157Leu	missense variant	-	NC_000020.11:g.32428421A>T	gnomAD
rs1190521844	p.Ala158Thr	missense variant	-	NC_000020.11:g.32429338G>A	TOPMed,gnomAD
rs1259109293	p.Ala158Val	missense variant	-	NC_000020.11:g.32429339C>T	TOPMed,gnomAD
rs1190521844	p.Ala158Pro	missense variant	-	NC_000020.11:g.32429338G>C	TOPMed,gnomAD
rs1019881696	p.Asn159Lys	missense variant	-	NC_000020.11:g.32429343C>A	TOPMed
rs759662137	p.Gln161Arg	missense variant	-	NC_000020.11:g.32429348A>G	ExAC,gnomAD
COSM4097541	p.Lys162Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32429350A>G	NCI-TCGA Cosmic
rs765345307	p.Lys163Arg	missense variant	-	NC_000020.11:g.32429354A>G	ExAC,gnomAD
COSM1025720	p.Lys163Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32429354A>C	NCI-TCGA Cosmic
rs752930699	p.Gly166Arg	missense variant	-	NC_000020.11:g.32429362G>A	ExAC,TOPMed,gnomAD
rs758651476	p.Gly166Glu	missense variant	-	NC_000020.11:g.32429363G>A	ExAC,gnomAD
rs1374773723	p.Val167Met	missense variant	-	NC_000020.11:g.32429365G>A	gnomAD
rs200503314	p.Met168Leu	missense variant	-	NC_000020.11:g.32429368A>T	ExAC,TOPMed,gnomAD
RCV000341613	p.Met168Leu	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32429368A>T	ClinVar
rs751394199	p.Leu169Val	missense variant	-	NC_000020.11:g.32429371C>G	ExAC,gnomAD
NCI-TCGA novel	p.Val172CysPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.32429378_32429379GA>-	NCI-TCGA
rs1293492156	p.Val173Ala	missense variant	-	NC_000020.11:g.32429384T>C	gnomAD
rs781321640	p.Val173Ile	missense variant	-	NC_000020.11:g.32429383G>A	ExAC,TOPMed,gnomAD
rs1263730148	p.Gly181Val	missense variant	-	NC_000020.11:g.32429408G>T	TOPMed
NCI-TCGA novel	p.His183Arg	missense variant	-	NC_000020.11:g.32429414A>G	NCI-TCGA
rs755747902	p.His183Tyr	missense variant	-	NC_000020.11:g.32429413C>T	ExAC,gnomAD
rs140731196	p.Val184Met	missense variant	-	NC_000020.11:g.32429416G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs140731196	p.Val184Leu	missense variant	-	NC_000020.11:g.32429416G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1468736888	p.Ala187Val	missense variant	-	NC_000020.11:g.32429426C>T	gnomAD
NCI-TCGA novel	p.Gly189Trp	missense variant	-	NC_000020.11:g.32429431G>T	NCI-TCGA
NCI-TCGA novel	p.Gly189Glu	missense variant	-	NC_000020.11:g.32429901G>A	NCI-TCGA
NCI-TCGA novel	p.Phe190Leu	missense variant	-	NC_000020.11:g.32429905C>A	NCI-TCGA
rs779803649	p.Ser191Leu	missense variant	-	NC_000020.11:g.32429907C>T	ExAC,TOPMed,gnomAD
rs779803649	p.Ser191Trp	missense variant	-	NC_000020.11:g.32429907C>G	ExAC,TOPMed,gnomAD
rs778674124	p.Gly192Asp	missense variant	-	NC_000020.11:g.32429910G>A	ExAC,gnomAD
rs1237338977	p.Cys193Tyr	missense variant	-	NC_000020.11:g.32429913G>A	gnomAD
rs771351026	p.His194Arg	missense variant	-	NC_000020.11:g.32429916A>G	ExAC,TOPMed,gnomAD
rs116633791	p.His194Gln	missense variant	-	NC_000020.11:g.32429917C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771351026	p.His194Pro	missense variant	-	NC_000020.11:g.32429916A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala195Thr	missense variant	-	NC_000020.11:g.32429918G>A	NCI-TCGA
rs1005458245	p.Asp196Asn	missense variant	-	NC_000020.11:g.32429921G>A	gnomAD
NCI-TCGA novel	p.Gly197Asp	missense variant	-	NC_000020.11:g.32429925G>A	NCI-TCGA
NCI-TCGA novel	p.Gly197Cys	missense variant	-	NC_000020.11:g.32429924G>T	NCI-TCGA
rs376793343	p.Glu198Lys	missense variant	-	NC_000020.11:g.32429927G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376793343	p.Glu198Gln	missense variant	-	NC_000020.11:g.32429927G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774775836	p.Ser199Arg	missense variant	-	NC_000020.11:g.32429932C>G	ExAC,gnomAD
rs368981019	p.Gly200Ser	missense variant	-	NC_000020.11:g.32429933G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368981019	p.Gly200Cys	missense variant	-	NC_000020.11:g.32429933G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1164268660	p.Ser201Asn	missense variant	-	NC_000020.11:g.32429937G>A	gnomAD
rs1454532242	p.Ser201Gly	missense variant	-	NC_000020.11:g.32429936A>G	gnomAD
rs750262296	p.Pro202Leu	missense variant	-	NC_000020.11:g.32429940C>T	ExAC,TOPMed,gnomAD
rs767787155	p.Pro202Thr	missense variant	-	NC_000020.11:g.32429939C>A	ExAC,gnomAD
rs767787155	p.Pro202Ser	missense variant	-	NC_000020.11:g.32429939C>T	ExAC,gnomAD
COSM3545250	p.Ser203Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32429943C>T	NCI-TCGA Cosmic
rs753695060	p.Ser206Asn	missense variant	-	NC_000020.11:g.32429952G>A	ExAC,gnomAD
rs1318312862	p.Ser207Gly	missense variant	-	NC_000020.11:g.32429954A>G	gnomAD
rs754572422	p.Gly208Ser	missense variant	-	NC_000020.11:g.32429957G>A	ExAC,TOPMed,gnomAD
rs778390869	p.Gly208Asp	missense variant	-	NC_000020.11:g.32429958G>A	ExAC,gnomAD
rs1265899855	p.Ala211Val	missense variant	-	NC_000020.11:g.32429967C>T	TOPMed,gnomAD
COSM5511154	p.Ala215Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32429978G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile217Val	missense variant	-	NC_000020.11:g.32429984A>G	NCI-TCGA
rs564841799	p.Arg218Cys	missense variant	-	NC_000020.11:g.32429987C>T	1000Genomes,ExAC,gnomAD
rs564841799	p.Arg218Ser	missense variant	-	NC_000020.11:g.32429987C>A	1000Genomes,ExAC,gnomAD
rs373418380	p.Arg218Pro	missense variant	-	NC_000020.11:g.32429988G>C	ESP,ExAC,TOPMed,gnomAD
rs373418380	p.Arg218His	missense variant	-	NC_000020.11:g.32429988G>A	ESP,ExAC,TOPMed,gnomAD
rs587778064	p.Gly219Val	missense variant	-	NC_000020.11:g.32429991G>T	ExAC,TOPMed,gnomAD
RCV000120114	p.Gly219Val	missense variant	-	NC_000020.11:g.32429991G>T	ClinVar
RCV000498145	p.Glu222Lys	missense variant	-	NC_000020.11:g.32429999G>A	ClinVar
RCV000503508	p.Glu222Lys	missense variant	Global developmental delay (DD)	NC_000020.11:g.32429999G>A	ClinVar
rs780662350	p.Glu222Lys	missense variant	-	NC_000020.11:g.32429999G>A	ExAC,TOPMed,gnomAD
rs1364923384	p.Glu222Gly	missense variant	-	NC_000020.11:g.32430000A>G	TOPMed
rs1165775102	p.Thr224Ile	missense variant	-	NC_000020.11:g.32430006C>T	gnomAD
rs1460951231	p.Gln225Arg	missense variant	-	NC_000020.11:g.32430009A>G	TOPMed,gnomAD
COSM1307273	p.Gln225Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32430008C>T	NCI-TCGA Cosmic
rs587778063	p.Ala228Val	missense variant	-	NC_000020.11:g.32430018C>T	-
RCV000120113	p.Ala228Val	missense variant	-	NC_000020.11:g.32430018C>T	ClinVar
rs1300241784	p.Pro229Ser	missense variant	-	NC_000020.11:g.32430020C>T	TOPMed,gnomAD
rs576523117	p.Pro229Leu	missense variant	-	NC_000020.11:g.32430021C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000288522	p.Pro229Leu	missense variant	-	NC_000020.11:g.32430021C>T	ClinVar
rs1353196273	p.Phe234Ser	missense variant	-	NC_000020.11:g.32430036T>C	gnomAD
rs1234538414	p.Arg235Gln	missense variant	-	NC_000020.11:g.32430039G>A	TOPMed,gnomAD
rs1234855061	p.Arg235Trp	missense variant	-	NC_000020.11:g.32430038C>T	gnomAD
rs761932590	p.Lys236Gln	missense variant	-	NC_000020.11:g.32430041A>C	ExAC,gnomAD
NCI-TCGA novel	p.Thr239Ser	missense variant	-	NC_000020.11:g.32430050A>T	NCI-TCGA
NCI-TCGA novel	p.Thr239Ile	missense variant	-	NC_000020.11:g.32430051C>T	NCI-TCGA
rs1306818500	p.Thr239Ala	missense variant	-	NC_000020.11:g.32430050A>G	gnomAD
rs765190948	p.Met242Val	missense variant	-	NC_000020.11:g.32431326A>G	ExAC,TOPMed,gnomAD
rs775377413	p.Arg244Ser	missense variant	-	NC_000020.11:g.32431332C>A	ExAC,gnomAD
rs775377413	p.Arg244Cys	missense variant	-	NC_000020.11:g.32431332C>T	ExAC,gnomAD
rs139716375	p.Arg244His	missense variant	-	NC_000020.11:g.32431333G>A	ESP,ExAC,TOPMed,gnomAD
rs763582989	p.Asn245Ile	missense variant	-	NC_000020.11:g.32431336A>T	ExAC
NCI-TCGA novel	p.Arg246Ile	missense variant	-	NC_000020.11:g.32431339G>T	NCI-TCGA
rs1179449889	p.Gly247Trp	missense variant	-	NC_000020.11:g.32431341G>T	TOPMed
rs1478523808	p.Ile250Val	missense variant	-	NC_000020.11:g.32431350A>G	gnomAD
rs1158370661	p.Ile250Met	missense variant	-	NC_000020.11:g.32431352A>G	gnomAD
rs1282158059	p.Gly256Arg	missense variant	-	NC_000020.11:g.32431368G>A	gnomAD
NCI-TCGA novel	p.Gly256PhePheSerTerUnkUnk	frameshift	-	NC_000020.11:g.32431365_32431371CCTGGGT>-	NCI-TCGA
rs1398631312	p.Ile258Val	missense variant	-	NC_000020.11:g.32431374A>G	gnomAD
rs144349534	p.Arg265His	missense variant	-	NC_000020.11:g.32431396G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg265Ser	missense variant	-	NC_000020.11:g.32431395C>A	NCI-TCGA
rs767144159	p.Arg265Cys	missense variant	-	NC_000020.11:g.32431395C>T	ExAC,gnomAD
rs767144159	p.Arg265Gly	missense variant	-	NC_000020.11:g.32431395C>G	ExAC,gnomAD
rs1469495344	p.Ala266Asp	missense variant	-	NC_000020.11:g.32431399C>A	TOPMed
NCI-TCGA novel	p.Leu267Pro	missense variant	-	NC_000020.11:g.32431402T>C	NCI-TCGA
rs200053121	p.Ile268Phe	missense variant	-	NC_000020.11:g.32431404A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile268Ser	missense variant	-	NC_000020.11:g.32431405T>G	NCI-TCGA
rs200053121	p.Ile268Val	missense variant	-	NC_000020.11:g.32431404A>G	ExAC,TOPMed,gnomAD
rs1436870251	p.Ile268Met	missense variant	-	NC_000020.11:g.32431406C>G	gnomAD
rs779609836	p.Asn269Thr	missense variant	-	NC_000020.11:g.32431408A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser270Tyr	missense variant	-	NC_000020.11:g.32431411C>A	NCI-TCGA
rs1286153885	p.Ser270Pro	missense variant	-	NC_000020.11:g.32431410T>C	TOPMed
rs576447224	p.Arg271Gln	missense variant	-	NC_000020.11:g.32431414G>A	1000Genomes,TOPMed,gnomAD
rs748649917	p.Arg271Trp	missense variant	-	NC_000020.11:g.32431413C>T	ExAC,TOPMed,gnomAD
rs576447224	p.Arg271Pro	missense variant	-	NC_000020.11:g.32431414G>C	1000Genomes,TOPMed,gnomAD
rs1274990710	p.His274Leu	missense variant	-	NC_000020.11:g.32431423A>T	gnomAD
rs1268838941	p.Phe280Leu	missense variant	-	NC_000020.11:g.32431440T>C	gnomAD
rs1334351668	p.Phe280Leu	missense variant	-	NC_000020.11:g.32431442C>G	gnomAD
rs1275538082	p.Gln283His	missense variant	-	NC_000020.11:g.32431451G>C	gnomAD
rs948107833	p.Glu290Val	missense variant	-	NC_000020.11:g.32431471A>T	TOPMed,gnomAD
rs948107833	p.Glu290Ala	missense variant	-	NC_000020.11:g.32431471A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Arg293Gly	missense variant	-	NC_000020.11:g.32431479A>G	NCI-TCGA
rs750064853	p.Val295Ala	missense variant	-	NC_000020.11:g.32431584T>C	ExAC,gnomAD
rs373599045	p.Thr297Met	missense variant	-	NC_000020.11:g.32431590C>T	ESP,ExAC,TOPMed,gnomAD
RCV000301957	p.Thr297Met	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32431590C>T	ClinVar
rs769717271	p.Arg302His	missense variant	-	NC_000020.11:g.32431605G>A	ExAC,TOPMed,gnomAD
rs1167333195	p.Arg302Cys	missense variant	-	NC_000020.11:g.32431604C>T	TOPMed,gnomAD
rs1167333195	p.Arg302Ser	missense variant	-	NC_000020.11:g.32431604C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Arg302Leu	missense variant	-	NC_000020.11:g.32431605G>T	NCI-TCGA
rs1431344191	p.Leu303Pro	missense variant	-	NC_000020.11:g.32431608T>C	gnomAD
rs146637943	p.Ser304Cys	missense variant	-	NC_000020.11:g.32431610A>T	ESP,ExAC,TOPMed,gnomAD
rs1413217828	p.Ser305Ile	missense variant	-	NC_000020.11:g.32431614G>T	gnomAD
NCI-TCGA novel	p.Thr314TyrPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.32431633_32431634insT	NCI-TCGA
rs781319292	p.His315Leu	missense variant	-	NC_000020.11:g.32431644A>T	ExAC,gnomAD
rs1485128289	p.Ala316Val	missense variant	-	NC_000020.11:g.32431647C>T	TOPMed,gnomAD
rs1290952848	p.Ala317Val	missense variant	-	NC_000020.11:g.32431650C>T	TOPMed
rs1257658232	p.Ala317Ser	missense variant	-	NC_000020.11:g.32431649G>T	gnomAD
rs1174269593	p.Gln318Ter	stop gained	-	NC_000020.11:g.32431652C>T	gnomAD
NCI-TCGA novel	p.Trp320Cys	missense variant	-	NC_000020.11:g.32431660G>C	NCI-TCGA
rs769646696	p.Arg321Gln	missense variant	-	NC_000020.11:g.32431662G>A	ExAC,gnomAD
COSM1565851	p.Arg321Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32431661C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg323Leu	missense variant	-	NC_000020.11:g.32431668G>T	NCI-TCGA
rs1330515767	p.Glu328Gln	missense variant	-	NC_000020.11:g.32432882G>C	gnomAD
RCV000300567	p.His331Asp	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32432891C>G	ClinVar
rs886056597	p.His331Asp	missense variant	-	NC_000020.11:g.32432891C>G	-
rs527956473	p.His331Gln	missense variant	-	NC_000020.11:g.32432893T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1208821068	p.His331Arg	missense variant	-	NC_000020.11:g.32432892A>G	gnomAD
rs587778058	p.Met333Ile	missense variant	-	NC_000020.11:g.32432899G>T	-
RCV000120088	p.Met333Ile	missense variant	-	NC_000020.11:g.32432899G>T	ClinVar
rs1379240545	p.Ile337Lys	missense variant	-	NC_000020.11:g.32432910T>A	TOPMed
rs763319023	p.Arg338Gln	missense variant	-	NC_000020.11:g.32432913G>A	ExAC,gnomAD
rs1180014276	p.Glu340Lys	missense variant	-	NC_000020.11:g.32432918G>A	gnomAD
rs1414475265	p.Glu340Asp	missense variant	-	NC_000020.11:g.32432920A>C	gnomAD
rs1460118565	p.Glu344Gly	missense variant	-	NC_000020.11:g.32432931A>G	TOPMed
rs368107684	p.Glu348Gln	missense variant	-	NC_000020.11:g.32432942G>C	ESP,ExAC,TOPMed,gnomAD
rs368107684	p.Glu348Lys	missense variant	-	NC_000020.11:g.32432942G>A	ESP,ExAC,TOPMed,gnomAD
rs1164335635	p.Gln349Arg	missense variant	-	NC_000020.11:g.32432946A>G	TOPMed,gnomAD
rs756364371	p.Lys353Gln	missense variant	-	NC_000020.11:g.32432957A>C	ExAC,gnomAD
COSM256358	p.Phe354Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32432962C>A	NCI-TCGA Cosmic
rs1415471931	p.Tyr358Cys	missense variant	-	NC_000020.11:g.32432973A>G	TOPMed
rs754808303	p.Tyr359Cys	missense variant	-	NC_000020.11:g.32432976A>G	ExAC,TOPMed,gnomAD
rs756902273	p.Gly364Asp	missense variant	-	NC_000020.11:g.32433289G>A	ExAC,gnomAD
rs1382217601	p.Glu369Gly	missense variant	-	NC_000020.11:g.32433304A>G	TOPMed
rs557983754	p.Ser370Thr	missense variant	-	NC_000020.11:g.32433306T>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser370Ter	stop gained	-	NC_000020.11:g.32433307C>G	NCI-TCGA
rs199846284	p.Gln372Ter	stop gained	-	NC_000020.11:g.32433312C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs199846284	p.Gln372Lys	missense variant	-	NC_000020.11:g.32433312C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs199846284	p.Gln372Glu	missense variant	-	NC_000020.11:g.32433312C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1427299519	p.Gln373Ter	stop gained	-	NC_000020.11:g.32433315C>T	TOPMed,gnomAD
RCV000622427	p.Gln373Ter	nonsense	Inborn genetic diseases	NC_000020.11:g.32433315C>T	ClinVar
rs748644253	p.Val375Met	missense variant	-	NC_000020.11:g.32433321G>A	ExAC,TOPMed,gnomAD
rs748644253	p.Val375Leu	missense variant	-	NC_000020.11:g.32433321G>T	ExAC,TOPMed,gnomAD
rs1386196069	p.Gln377Ter	stop gained	-	NC_000020.11:g.32433327C>T	gnomAD
rs1434163063	p.Glu379Ala	missense variant	-	NC_000020.11:g.32433334A>C	gnomAD
NCI-TCGA novel	p.Lys383Ter	stop gained	-	NC_000020.11:g.32433345A>T	NCI-TCGA
rs1203866783	p.Lys383Arg	missense variant	-	NC_000020.11:g.32433346A>G	TOPMed
rs963466544	p.Gly385Ser	missense variant	-	NC_000020.11:g.32433351G>A	TOPMed,gnomAD
rs772584710	p.Leu386Ter	stop gained	-	NC_000020.11:g.32433355T>A	ExAC,gnomAD
rs773501932	p.Leu386Phe	missense variant	-	NC_000020.11:g.32433356G>T	ExAC,gnomAD
rs1302955173	p.Cys387Tyr	missense variant	-	NC_000020.11:g.32433358G>A	TOPMed,gnomAD
rs1302955173	p.Cys387Phe	missense variant	-	NC_000020.11:g.32433358G>T	TOPMed,gnomAD
rs145699348	p.Val388Leu	missense variant	-	NC_000020.11:g.32433360G>C	ESP,ExAC,TOPMed,gnomAD
RCV000592184	p.Val388Ter	frameshift	-	NC_000020.11:g.32433356_32433357GT[2]	ClinVar
NCI-TCGA novel	p.Val388ProPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.32433355_32433356TG>-	NCI-TCGA
rs145699348	p.Val388Ile	missense variant	-	NC_000020.11:g.32433360G>A	ESP,ExAC,TOPMed,gnomAD
rs771344849	p.Val388Ala	missense variant	-	NC_000020.11:g.32433361T>C	ExAC
RCV000353113	p.Val388Ile	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32433360G>A	ClinVar
rs776891768	p.Pro389Arg	missense variant	-	NC_000020.11:g.32433364C>G	ExAC,gnomAD
rs1305163905	p.Glu391Asp	missense variant	-	NC_000020.11:g.32433371A>T	TOPMed
rs534065676	p.Arg394Cys	missense variant	-	NC_000020.11:g.32433378C>T	1000Genomes,ExAC,gnomAD
rs201899433	p.Arg394His	missense variant	-	NC_000020.11:g.32433379G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs762925891	p.Gln396Arg	missense variant	-	NC_000020.11:g.32433385A>G	ExAC,gnomAD
rs369058266	p.Arg397Gly	missense variant	-	NC_000020.11:g.32433387C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757102293	p.Arg397His	missense variant	-	NC_000020.11:g.32433388G>A	ExAC,gnomAD
rs369058266	p.Arg397Cys	missense variant	-	NC_000020.11:g.32433387C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781178976	p.Gly398Asp	missense variant	-	NC_000020.11:g.32433391G>A	ExAC,gnomAD
rs755749479	p.Arg402Gln	missense variant	-	NC_000020.11:g.32433403G>A	ExAC,TOPMed,gnomAD
rs1454065495	p.Gln403Leu	missense variant	-	NC_000020.11:g.32433406A>T	gnomAD
rs748755685	p.Arg404Gln	missense variant	-	NC_000020.11:g.32433409G>A	ExAC,TOPMed,gnomAD
RCV000627196	p.Arg404Ter	nonsense	-	NC_000020.11:g.32433408C>T	ClinVar
RCV000415151	p.Arg404Ter	nonsense	Developmental delay	NC_000020.11:g.32433408C>T	ClinVar
RCV000414833	p.Arg404Ter	nonsense	Hypertrichosis	NC_000020.11:g.32433408C>T	ClinVar
rs373145711	p.Arg404Ter	stop gained	-	NC_000020.11:g.32433408C>T	ESP,ExAC,TOPMed,gnomAD
RCV000023977	p.Arg404Ter	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32433408C>T	ClinVar
rs768224767	p.Asp405Gly	missense variant	-	NC_000020.11:g.32433412A>G	ExAC,gnomAD
rs778241944	p.Gly406Val	missense variant	-	NC_000020.11:g.32433415G>T	ExAC,gnomAD
COSM3840724	p.His407Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32433418A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg411Leu	missense variant	-	NC_000020.11:g.32433430G>T	NCI-TCGA
rs143719307	p.Arg411His	missense variant	-	NC_000020.11:g.32433430G>A	ESP,ExAC,TOPMed,gnomAD
rs148964601	p.Arg411Cys	missense variant	-	NC_000020.11:g.32433429C>T	ESP,ExAC,TOPMed,gnomAD
rs776892604	p.Ser412Pro	missense variant	-	NC_000020.11:g.32433432T>C	ExAC,gnomAD
rs201016007	p.Ser412Phe	missense variant	-	NC_000020.11:g.32433433C>T	-
rs1272820357	p.Arg413Trp	missense variant	-	NC_000020.11:g.32433435C>T	gnomAD
rs1466780451	p.Arg413Leu	missense variant	-	NC_000020.11:g.32433436G>T	TOPMed
rs1466780451	p.Arg413Gln	missense variant	-	NC_000020.11:g.32433436G>A	TOPMed
rs375215583	p.Arg417Gly	missense variant	-	NC_000020.11:g.32433447C>G	ESP,ExAC,TOPMed,gnomAD
RCV000326340	p.Arg417Ter	nonsense	-	NC_000020.11:g.32433447C>T	ClinVar
rs769921728	p.Arg417Gln	missense variant	-	NC_000020.11:g.32433448G>A	ExAC,TOPMed,gnomAD
rs375215583	p.Arg417Ter	stop gained	-	NC_000020.11:g.32433447C>T	ESP,ExAC,TOPMed,gnomAD
RCV000779346	p.Arg417Ter	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32433447C>T	ClinVar
COSM3799425	p.Arg419Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32433454G>A	NCI-TCGA Cosmic
rs1210656444	p.Arg422Gly	missense variant	-	NC_000020.11:g.32433462A>G	gnomAD
RCV000260381	p.Asn423Ser	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32433466A>G	ClinVar
rs886056598	p.Asn423Ser	missense variant	-	NC_000020.11:g.32433466A>G	-
NCI-TCGA novel	p.Lys427AsnPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.32433474A>-	NCI-TCGA
RCV000297241	p.Gln428Ter	frameshift	-	NC_000020.11:g.32433479dup	ClinVar
RCV000325688	p.Gln428Ter	nonsense	-	NC_000020.11:g.32433480C>T	ClinVar
RCV000735213	p.Gln428Ter	frameshift	C-like syndrome (BOPS)	NC_000020.11:g.32433481_32433482del	ClinVar
rs886041975	p.Gln428Ter	stop gained	-	NC_000020.11:g.32433480C>T	TOPMed
NCI-TCGA novel	p.Glu429Gly	missense variant	-	NC_000020.11:g.32433484A>G	NCI-TCGA
rs1248768238	p.Glu431Gly	missense variant	-	NC_000020.11:g.32433490A>G	gnomAD
rs764325672	p.Gln432Ter	stop gained	-	NC_000020.11:g.32433492C>T	ExAC,gnomAD
rs1464725319	p.Ala433Pro	missense variant	-	NC_000020.11:g.32433495G>C	gnomAD
rs1191343540	p.Gly434Glu	missense variant	-	NC_000020.11:g.32433499G>A	gnomAD
NCI-TCGA novel	p.Gly434Val	missense variant	-	NC_000020.11:g.32433499G>T	NCI-TCGA
rs1249356614	p.Val435Phe	missense variant	-	NC_000020.11:g.32433501G>T	TOPMed
rs1410759251	p.Ala436Ser	missense variant	-	NC_000020.11:g.32433504G>T	gnomAD
rs1471354306	p.Asp438Tyr	missense variant	-	NC_000020.11:g.32433510G>T	gnomAD
rs1160704020	p.Asp438Glu	missense variant	-	NC_000020.11:g.32433512T>A	gnomAD
rs1389330371	p.Lys440Glu	missense variant	-	NC_000020.11:g.32433516A>G	gnomAD
rs751518063	p.Ser441Phe	missense variant	-	NC_000020.11:g.32433520C>T	ExAC,gnomAD
rs1351336989	p.Ala443Asp	missense variant	-	NC_000020.11:g.32433526C>A	gnomAD
rs373126831	p.Ser444Ter	stop gained	-	NC_000020.11:g.32433529C>A	ESP,ExAC,TOPMed,gnomAD
rs373126831	p.Ser444Leu	missense variant	-	NC_000020.11:g.32433529C>T	ESP,ExAC,TOPMed,gnomAD
rs373126831	p.Ser444Ter	stop gained	-	NC_000020.11:g.32433529C>G	ESP,ExAC,TOPMed,gnomAD
rs750204108	p.Ser444Pro	missense variant	-	NC_000020.11:g.32433528T>C	ExAC,TOPMed,gnomAD
rs201151457	p.Asp445Gly	missense variant	-	NC_000020.11:g.32433532A>G	1000Genomes,ExAC,gnomAD
RCV000313477	p.Val446Ile	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32433534G>A	ClinVar
rs376229687	p.Val446Ile	missense variant	-	NC_000020.11:g.32433534G>A	ESP,ExAC,TOPMed,gnomAD
rs1334789337	p.Pro447Thr	missense variant	-	NC_000020.11:g.32433537C>A	gnomAD
RCV000370446	p.Leu448Pro	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32433541T>C	ClinVar
rs886056599	p.Leu448Pro	missense variant	-	NC_000020.11:g.32433541T>C	TOPMed
rs778435999	p.Tyr449Cys	missense variant	-	NC_000020.11:g.32433544A>G	ExAC,TOPMed
rs1052747905	p.Gly452Arg	missense variant	-	NC_000020.11:g.32433552G>A	TOPMed
rs1227044536	p.Ala454Val	missense variant	-	NC_000020.11:g.32433559C>T	gnomAD
rs1292471399	p.Lys455Ter	stop gained	-	NC_000020.11:g.32433561A>T	gnomAD
rs747475412	p.Thr456Ile	missense variant	-	NC_000020.11:g.32433565C>T	ExAC,TOPMed,gnomAD
rs912915179	p.Asp457Asn	missense variant	-	NC_000020.11:g.32433567G>A	TOPMed
rs1481847597	p.Pro458Arg	missense variant	-	NC_000020.11:g.32433571C>G	gnomAD
COSM1411069	p.Ala459Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32433573G>A	NCI-TCGA Cosmic
rs1183748271	p.Gly460Glu	missense variant	-	NC_000020.11:g.32433577G>A	gnomAD
rs1472430198	p.Ser462Gly	missense variant	-	NC_000020.11:g.32433582A>G	gnomAD
rs1364461359	p.Ser462Asn	missense variant	-	NC_000020.11:g.32433583G>A	gnomAD
rs373486603	p.Ser463Asn	missense variant	-	NC_000020.11:g.32433586G>A	ESP,ExAC,TOPMed,gnomAD
rs373486603	p.Ser463Thr	missense variant	-	NC_000020.11:g.32433586G>C	ESP,ExAC,TOPMed,gnomAD
rs1161459110	p.Ser463Gly	missense variant	-	NC_000020.11:g.32433585A>G	TOPMed,gnomAD
RCV000273509	p.Ser463Thr	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32433586G>C	ClinVar
RCV000120089	p.Ser463Asn	missense variant	-	NC_000020.11:g.32433586G>A	ClinVar
rs1405789384	p.Pro464Leu	missense variant	-	NC_000020.11:g.32433589C>T	gnomAD
rs749568474	p.His465Arg	missense variant	-	NC_000020.11:g.32433592A>G	ExAC,TOPMed,gnomAD
rs768821760	p.Leu466Arg	missense variant	-	NC_000020.11:g.32433595T>G	ExAC,gnomAD
rs774600044	p.Thr469Ile	missense variant	-	NC_000020.11:g.32433604C>T	ExAC,TOPMed,gnomAD
RCV000478898	p.Ser470Ter	frameshift	-	NC_000020.11:g.32433604dup	ClinVar
rs1357638839	p.Ser470Thr	missense variant	-	NC_000020.11:g.32433606T>A	gnomAD
rs760377286	p.Ala472Val	missense variant	-	NC_000020.11:g.32433613C>T	ExAC,TOPMed,gnomAD
rs1358407610	p.Ala473Thr	missense variant	-	NC_000020.11:g.32433615G>A	TOPMed
rs766248526	p.Pro474Ser	missense variant	-	NC_000020.11:g.32433618C>T	ExAC,gnomAD
rs1252085188	p.Pro474Leu	missense variant	-	NC_000020.11:g.32433619C>T	gnomAD
rs754658635	p.Asp475Asn	missense variant	-	NC_000020.11:g.32433621G>A	ExAC,TOPMed,gnomAD
rs141346625	p.Glu477Gln	missense variant	-	NC_000020.11:g.32433627G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141346625	p.Glu477Ter	stop gained	-	NC_000020.11:g.32433627G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000120090	p.Glu477Gln	missense variant	-	NC_000020.11:g.32433627G>C	ClinVar
rs1327084977	p.Gly478Val	missense variant	-	NC_000020.11:g.32433631G>T	TOPMed
RCV000657555	p.Gly478Ter	frameshift	-	NC_000020.11:g.32433631del	ClinVar
rs545224250	p.Glu480Ter	stop gained	-	NC_000020.11:g.32433636G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs545224250	p.Glu480Lys	missense variant	-	NC_000020.11:g.32433636G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000623422	p.Val483Ter	frameshift	Inborn genetic diseases	NC_000020.11:g.32433644dup	ClinVar
rs1388025911	p.Glu484Gln	missense variant	-	NC_000020.11:g.32433648G>C	gnomAD
COSM4097543	p.Glu484Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32433650G>C	NCI-TCGA Cosmic
rs1431862341	p.Ser485Cys	missense variant	-	NC_000020.11:g.32433652C>G	gnomAD
rs781545960	p.Ser488Phe	missense variant	-	NC_000020.11:g.32433661C>T	ExAC,TOPMed,gnomAD
rs142172134	p.Arg489Gly	missense variant	-	NC_000020.11:g.32433663C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780602186	p.Arg489Gln	missense variant	-	NC_000020.11:g.32433664G>A	ExAC,TOPMed,gnomAD
rs142172134	p.Arg489Trp	missense variant	-	NC_000020.11:g.32433663C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1335820343	p.Gln491Ter	stop gained	-	NC_000020.11:g.32433669C>T	TOPMed,gnomAD
rs145913172	p.Ala492Ser	missense variant	-	NC_000020.11:g.32433672G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141314105	p.Ala492Asp	missense variant	-	NC_000020.11:g.32433673C>A	gnomAD
rs145913172	p.Ala492Pro	missense variant	-	NC_000020.11:g.32433672G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141314105	p.Ala492Val	missense variant	-	NC_000020.11:g.32433673C>T	gnomAD
rs1434942289	p.Glu493Ter	stop gained	-	NC_000020.11:g.32433675G>T	gnomAD
COSM1025724	p.Pro494Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32433678C>T	NCI-TCGA Cosmic
RCV000330940	p.Asn496Lys	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32433686C>G	ClinVar
rs769017790	p.Asn496Lys	missense variant	-	NC_000020.11:g.32433686C>G	ExAC,TOPMed,gnomAD
RCV000723150	p.Ala498Ter	frameshift	-	NC_000020.11:g.32433690dup	ClinVar
rs549287573	p.Arg499His	missense variant	-	NC_000020.11:g.32433694G>A	1000Genomes,ExAC,gnomAD
rs376089258	p.Arg499Cys	missense variant	-	NC_000020.11:g.32433693C>T	ExAC,TOPMed,gnomAD
rs772255605	p.Ala502Val	missense variant	-	NC_000020.11:g.32433703C>T	ExAC,TOPMed,gnomAD
rs1280067131	p.Ala502Ser	missense variant	-	NC_000020.11:g.32433702G>T	gnomAD
rs773003506	p.Ser503Cys	missense variant	-	NC_000020.11:g.32433706C>G	ExAC,gnomAD
rs1246107812	p.Pro504Arg	missense variant	-	NC_000020.11:g.32433709C>G	gnomAD
rs528890865	p.Asp505Val	missense variant	-	NC_000020.11:g.32433712A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs528890865	p.Asp505Gly	missense variant	-	NC_000020.11:g.32433712A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs561374294	p.Asp505Asn	missense variant	-	NC_000020.11:g.32433711G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs561374294	p.Asp505His	missense variant	-	NC_000020.11:g.32433711G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1464693264	p.Arg506Thr	missense variant	-	NC_000020.11:g.32433715G>C	gnomAD
rs1307231164	p.Arg506Gly	missense variant	-	NC_000020.11:g.32433714A>G	TOPMed
rs1464693264	p.Arg506Ile	missense variant	-	NC_000020.11:g.32433715G>T	gnomAD
rs764873181	p.Ile507Met	missense variant	-	NC_000020.11:g.32433719T>G	ExAC,TOPMed,gnomAD
rs138971201	p.Ile507Asn	missense variant	-	NC_000020.11:g.32433718T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1456774256	p.Pro508Thr	missense variant	-	NC_000020.11:g.32433720C>A	gnomAD
rs1325586245	p.Ser509Thr	missense variant	-	NC_000020.11:g.32433724G>C	TOPMed
rs1319205628	p.Ser509Arg	missense variant	-	NC_000020.11:g.32433725C>A	gnomAD
rs752413007	p.Leu510Pro	missense variant	-	NC_000020.11:g.32433727T>C	ExAC,gnomAD
rs757832294	p.Gln512Ter	stop gained	-	NC_000020.11:g.32433732C>T	ExAC,TOPMed,gnomAD
rs763708711	p.Glu513Ter	stop gained	-	NC_000020.11:g.32433735G>T	ExAC
rs750860968	p.Glu513Asp	missense variant	-	NC_000020.11:g.32433737A>T	ExAC,TOPMed,gnomAD
rs370749247	p.Val515Met	missense variant	-	NC_000020.11:g.32433741G>A	ESP,ExAC,TOPMed,gnomAD
RCV000622658	p.Val515Ter	frameshift	Inborn genetic diseases	NC_000020.11:g.32433740_32433741TG[1]	ClinVar
RCV000778133	p.Val515Ter	frameshift	C-like syndrome (BOPS)	NC_000020.11:g.32433740_32433741TG[1]	ClinVar
RCV000366685	p.Val515Ter	frameshift	-	NC_000020.11:g.32433740_32433741TG[1]	ClinVar
rs754265104	p.Asp516Tyr	missense variant	-	NC_000020.11:g.32433744G>T	ExAC,TOPMed,gnomAD
rs755464186	p.Gln517Ter	stop gained	-	NC_000020.11:g.32433747C>T	ExAC,gnomAD
rs779269318	p.Glu518Val	missense variant	-	NC_000020.11:g.32433751A>T	ExAC,gnomAD
rs1209779368	p.Glu518Lys	missense variant	-	NC_000020.11:g.32433750G>A	gnomAD
NCI-TCGA novel	p.Asp521Asn	missense variant	-	NC_000020.11:g.32433759G>A	NCI-TCGA
rs772017757	p.Gln522Ter	stop gained	-	NC_000020.11:g.32433762C>T	ExAC
rs1266341581	p.Ser526Thr	missense variant	-	NC_000020.11:g.32433774T>A	TOPMed,gnomAD
rs1431666756	p.Ser526Phe	missense variant	-	NC_000020.11:g.32433775C>T	gnomAD
rs777942161	p.Phe527Leu	missense variant	-	NC_000020.11:g.32433779T>G	ExAC,gnomAD
rs746873290	p.Glu528Gln	missense variant	-	NC_000020.11:g.32433780G>C	ExAC,gnomAD
rs746873290	p.Glu528Ter	stop gained	-	NC_000020.11:g.32433780G>T	ExAC,gnomAD
rs770914619	p.Gln529Ter	stop gained	-	NC_000020.11:g.32433783C>T	ExAC,TOPMed,gnomAD
rs988568801	p.Ala530Val	missense variant	-	NC_000020.11:g.32433787C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ala531Val	missense variant	-	NC_000020.11:g.32433790C>T	NCI-TCGA
rs1458183314	p.Ser534Cys	missense variant	-	NC_000020.11:g.32433799C>G	gnomAD
rs1247116484	p.Pro536Leu	missense variant	-	NC_000020.11:g.32433805C>T	TOPMed
rs369425922	p.Glu537Ter	stop gained	-	NC_000020.11:g.32433807G>T	ExAC,TOPMed,gnomAD
rs369425922	p.Glu537Lys	missense variant	-	NC_000020.11:g.32433807G>A	ExAC,TOPMed,gnomAD
COSM3840728	p.Glu537Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32433809A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys538ArgPheSerTerUnkUnkUnk	frameshift	-	NC_000020.11:g.32433808A>-	NCI-TCGA
NCI-TCGA novel	p.Lys539SerPheSerTerUnkUnkUnk	frameshift	-	NC_000020.11:g.32433813A>-	NCI-TCGA
rs1023881021	p.Pro540Ser	missense variant	-	NC_000020.11:g.32433816C>T	TOPMed,gnomAD
rs1023881021	p.Pro540Ala	missense variant	-	NC_000020.11:g.32433816C>G	TOPMed,gnomAD
rs762705745	p.Leu542Arg	missense variant	-	NC_000020.11:g.32433823T>G	ExAC
NCI-TCGA novel	p.Asp544His	missense variant	-	NC_000020.11:g.32433828G>C	NCI-TCGA
rs761024882	p.Asp544Glu	missense variant	-	NC_000020.11:g.32433830T>A	ExAC,TOPMed,gnomAD
rs751100079	p.Asp544Gly	missense variant	-	NC_000020.11:g.32433829A>G	ExAC,gnomAD
COSM1307275	p.Asp544Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32433828G>A	NCI-TCGA Cosmic
rs137920574	p.Arg545Cys	missense variant	-	NC_000020.11:g.32433831C>T	ESP,ExAC,TOPMed,gnomAD
rs137920574	p.Arg545Ser	missense variant	-	NC_000020.11:g.32433831C>A	ESP,ExAC,TOPMed,gnomAD
rs149449801	p.Arg545His	missense variant	-	NC_000020.11:g.32433832G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM6092856	p.Arg545Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32433832G>C	NCI-TCGA Cosmic
COSM2889251	p.Arg545ValPheSerTerUnkUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32433831C>-	NCI-TCGA Cosmic
rs1264792645	p.Gln546Ter	stop gained	-	NC_000020.11:g.32433834C>T	TOPMed,gnomAD
rs1299423705	p.Arg549Cys	missense variant	-	NC_000020.11:g.32433843C>T	TOPMed
COSM4097547	p.Arg549His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32433844G>A	NCI-TCGA Cosmic
rs755376183	p.Thr551Ser	missense variant	-	NC_000020.11:g.32433849A>T	ExAC,gnomAD
rs143952412	p.Ile552Val	missense variant	-	NC_000020.11:g.32433852A>G	ESP,ExAC,TOPMed,gnomAD
rs1180135415	p.Ile552Thr	missense variant	-	NC_000020.11:g.32433853T>C	TOPMed,gnomAD
RCV000778628	p.Glu553Ter	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32433855G>T	ClinVar
rs752824843	p.Ser554Asn	missense variant	-	NC_000020.11:g.32433859G>A	ExAC,TOPMed,gnomAD
rs752824843	p.Ser554Thr	missense variant	-	NC_000020.11:g.32433859G>C	ExAC,TOPMed,gnomAD
rs1425563487	p.Val555Ile	missense variant	-	NC_000020.11:g.32433861G>A	TOPMed
rs1164774013	p.His556Tyr	missense variant	-	NC_000020.11:g.32433864C>T	gnomAD
rs1185741428	p.Thr557Ala	missense variant	-	NC_000020.11:g.32433867A>G	TOPMed
rs1474354822	p.Thr557Ser	missense variant	-	NC_000020.11:g.32433868C>G	TOPMed
rs899345535	p.Glu558Lys	missense variant	-	NC_000020.11:g.32433870G>A	TOPMed,gnomAD
rs899345535	p.Glu558Ter	stop gained	-	NC_000020.11:g.32433870G>T	TOPMed,gnomAD
rs771064807	p.Pro562Ser	missense variant	-	NC_000020.11:g.32433882C>T	ExAC
rs1279770197	p.Thr563Ile	missense variant	-	NC_000020.11:g.32433886C>T	TOPMed
rs769192383	p.Thr563Ala	missense variant	-	NC_000020.11:g.32433885A>G	gnomAD
rs994849358	p.Lys564Glu	missense variant	-	NC_000020.11:g.32433888A>G	TOPMed
COSM3799430	p.Lys564Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32433888A>T	NCI-TCGA Cosmic
rs1279708959	p.Glu566Asp	missense variant	-	NC_000020.11:g.32433896G>C	TOPMed
NCI-TCGA novel	p.Glu566SerPheSerTerUnkUnkUnk	frameshift	-	NC_000020.11:g.32433893G>-	NCI-TCGA
NCI-TCGA novel	p.Glu566Ter	stop gained	-	NC_000020.11:g.32433894G>T	NCI-TCGA
rs139843035	p.Glu566Val	missense variant	-	NC_000020.11:g.32433895A>T	ESP
rs1047797896	p.Pro567Ser	missense variant	-	NC_000020.11:g.32433897C>T	TOPMed
COSM3545252	p.Pro567Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32433898C>T	NCI-TCGA Cosmic
rs1338995781	p.Lys568Arg	missense variant	-	NC_000020.11:g.32433901A>G	TOPMed
NCI-TCGA novel	p.Pro570Thr	missense variant	-	NC_000020.11:g.32433906C>A	NCI-TCGA
rs539520990	p.Pro570Leu	missense variant	-	NC_000020.11:g.32433907C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Arg573Pro	missense variant	-	NC_000020.11:g.32433916G>C	NCI-TCGA
rs373685182	p.Arg573Trp	missense variant	-	NC_000020.11:g.32433915C>T	ESP,ExAC,TOPMed,gnomAD
rs144440597	p.Arg573Gln	missense variant	-	NC_000020.11:g.32433916G>A	ESP,ExAC,TOPMed,gnomAD
rs747847938	p.Gln575Ter	stop gained	-	NC_000020.11:g.32434435C>T	ExAC,gnomAD
rs771671358	p.Gln575His	missense variant	-	NC_000020.11:g.32434437A>C	ExAC,TOPMed,gnomAD
rs772873915	p.Ser577Pro	missense variant	-	NC_000020.11:g.32434441T>C	ExAC
COSM3799432	p.Ser577Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32434442C>G	NCI-TCGA Cosmic
rs921565741	p.Arg578His	missense variant	-	NC_000020.11:g.32434445G>A	TOPMed
NCI-TCGA novel	p.Ile579Phe	missense variant	-	NC_000020.11:g.32434447A>T	NCI-TCGA
rs368930454	p.Ile579Val	missense variant	-	NC_000020.11:g.32434447A>G	ESP,ExAC,gnomAD
rs775928560	p.Pro581Leu	missense variant	-	NC_000020.11:g.32434454C>T	ExAC,TOPMed,gnomAD
rs775928560	p.Pro581Arg	missense variant	-	NC_000020.11:g.32434454C>G	ExAC,TOPMed,gnomAD
rs1488971611	p.Pro582Ser	missense variant	-	NC_000020.11:g.32434456C>T	TOPMed
NCI-TCGA novel	p.Pro582His	missense variant	-	NC_000020.11:g.32434457C>A	NCI-TCGA
rs1174760074	p.Trp583Ter	stop gained	-	NC_000020.11:g.32434461G>A	gnomAD
rs763361634	p.Trp583Ter	stop gained	-	NC_000020.11:g.32434460G>A	ExAC,gnomAD
rs764414702	p.Gly587Cys	missense variant	-	NC_000020.11:g.32434471G>T	ExAC,gnomAD
rs1486082302	p.Gln588Ter	stop gained	-	NC_000020.11:g.32434474C>T	gnomAD
RCV000760590	p.Gln588Ter	nonsense	-	NC_000020.11:g.32434474C>T	ClinVar
rs751772819	p.Pro589Leu	missense variant	-	NC_000020.11:g.32434478C>T	ExAC,gnomAD
rs371369583	p.Tyr591Ter	stop gained	-	NC_000020.11:g.32434485C>A	ESP,ExAC,TOPMed,gnomAD
RCV000519960	p.Tyr591Ter	nonsense	-	NC_000020.11:g.32434485C>G	ClinVar
rs762036456	p.Tyr591Ter	stop gained	-	NC_000020.11:g.32434484dup	ExAC,TOPMed,gnomAD
rs371369583	p.Tyr591Ter	stop gained	-	NC_000020.11:g.32434485C>G	ESP,ExAC,TOPMed,gnomAD
rs750512886	p.Gln592Arg	missense variant	-	NC_000020.11:g.32434487A>G	ExAC,gnomAD
rs951716574	p.Gln592Ter	stop gained	-	NC_000020.11:g.32434486C>T	TOPMed,gnomAD
rs1299465576	p.Ile593Val	missense variant	-	NC_000020.11:g.32434489A>G	gnomAD
NCI-TCGA novel	p.Cys594AlaPheSerTerUnkUnkUnk	frameshift	-	NC_000020.11:g.32434491A>-	NCI-TCGA
rs1204364792	p.Cys594Arg	missense variant	-	NC_000020.11:g.32434492T>C	TOPMed,gnomAD
rs755974145	p.Cys594Ter	stop gained	-	NC_000020.11:g.32434494C>A	ExAC,gnomAD
rs780033634	p.Arg596Trp	missense variant	-	NC_000020.11:g.32434498C>T	ExAC,TOPMed,gnomAD
rs984648436	p.Ile597Leu	missense variant	-	NC_000020.11:g.32434501A>C	TOPMed,gnomAD
rs754774849	p.Thr600Ile	missense variant	-	NC_000020.11:g.32434511C>T	ExAC,gnomAD
rs1298915538	p.Thr601Ala	missense variant	-	NC_000020.11:g.32434513A>G	TOPMed
rs778606251	p.Thr601Met	missense variant	-	NC_000020.11:g.32434514C>T	ExAC,gnomAD
rs772781848	p.Cys605Phe	missense variant	-	NC_000020.11:g.32434526G>T	ExAC,TOPMed,gnomAD
rs772781848	p.Cys605Tyr	missense variant	-	NC_000020.11:g.32434526G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg606Leu	missense variant	-	NC_000020.11:g.32434529G>T	NCI-TCGA
rs746515791	p.Arg606Trp	missense variant	-	NC_000020.11:g.32434528C>T	ExAC,TOPMed,gnomAD
rs587778061	p.Arg606Gln	missense variant	-	NC_000020.11:g.32434529G>A	ExAC,TOPMed,gnomAD
RCV000120104	p.Arg606Gln	missense variant	-	NC_000020.11:g.32434529G>A	ClinVar
rs1369413951	p.Gly607Cys	missense variant	-	NC_000020.11:g.32434531G>T	gnomAD
rs1479104382	p.Gly607Asp	missense variant	-	NC_000020.11:g.32434532G>A	TOPMed
rs1434857838	p.Trp608Cys	missense variant	-	NC_000020.11:g.32434536G>C	gnomAD
NCI-TCGA novel	p.Thr609Ala	missense variant	-	NC_000020.11:g.32434537A>G	NCI-TCGA
rs1292056366	p.Thr609Ile	missense variant	-	NC_000020.11:g.32434538C>T	TOPMed,gnomAD
rs940521669	p.Gly610Asp	missense variant	-	NC_000020.11:g.32434541G>A	TOPMed,gnomAD
rs372418554	p.Ala611Ser	missense variant	-	NC_000020.11:g.32434543G>T	ESP,ExAC,TOPMed,gnomAD
rs372418554	p.Ala611Thr	missense variant	-	NC_000020.11:g.32434543G>A	ESP,ExAC,TOPMed,gnomAD
rs1224237404	p.Arg612Ser	missense variant	-	NC_000020.11:g.32434548G>T	gnomAD
COSM1411075	p.Arg612Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32434547G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr613ProPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.32434547G>-	NCI-TCGA
rs1287753337	p.Thr613Ile	missense variant	-	NC_000020.11:g.32434550C>T	gnomAD
rs1230703370	p.Ala615Thr	missense variant	-	NC_000020.11:g.32434555G>A	gnomAD
rs1285568939	p.Ile617Val	missense variant	-	NC_000020.11:g.32434561A>G	TOPMed,gnomAD
rs1285568939	p.Ile617Phe	missense variant	-	NC_000020.11:g.32434561A>T	TOPMed,gnomAD
rs1555911840	p.IleLys617IleLysTerUnk	stop gained	-	NC_000020.11:g.32434563_32434566dup	TOPMed
rs774719088	p.Lys618Glu	missense variant	-	NC_000020.11:g.32434564A>G	ExAC
rs750708574	p.Arg620Pro	missense variant	-	NC_000020.11:g.32434571G>C	ExAC,TOPMed,gnomAD
rs750708574	p.Arg620His	missense variant	-	NC_000020.11:g.32434571G>A	ExAC,TOPMed,gnomAD
rs561663577	p.Arg620Cys	missense variant	-	NC_000020.11:g.32434570C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs760727236	p.Ala621Pro	missense variant	-	NC_000020.11:g.32434573G>C	ExAC,gnomAD
rs760727236	p.Ala621Thr	missense variant	-	NC_000020.11:g.32434573G>A	ExAC,gnomAD
rs111316898	p.Gln623Ter	stop gained	-	NC_000020.11:g.32434579C>T	gnomAD
RCV000331527	p.Gln623Ter	nonsense	-	NC_000020.11:g.32434579C>T	ClinVar
rs199602042	p.Arg625Gln	missense variant	-	NC_000020.11:g.32434586G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1336373430	p.Gly626Glu	missense variant	-	NC_000020.11:g.32434589G>A	TOPMed
COSM1025726	p.Gly626ValPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32434588_32434597GGGGCGAGAG>-	NCI-TCGA Cosmic
rs1162384519	p.Ala627Val	missense variant	-	NC_000020.11:g.32434592C>T	gnomAD
NCI-TCGA novel	p.Gly629AlaPheSerTerUnk	frameshift	-	NC_000020.11:g.32434598_32434599GT>-	NCI-TCGA
rs752546076	p.Gly629Ser	missense variant	-	NC_000020.11:g.32434597G>A	ExAC,gnomAD
rs1307506315	p.Gly629Val	missense variant	-	NC_000020.11:g.32434598G>T	gnomAD
rs758334915	p.His631Leu	missense variant	-	NC_000020.11:g.32434604A>T	ExAC,gnomAD
rs1356224550	p.Cys632Ter	stop gained	-	NC_000020.11:g.32434608C>A	gnomAD
rs930925893	p.Cys632Tyr	missense variant	-	NC_000020.11:g.32434607G>A	TOPMed,gnomAD
rs201280462	p.His633Arg	missense variant	-	NC_000020.11:g.32434610A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746706200	p.Glu635Gly	missense variant	-	NC_000020.11:g.32434616A>G	ExAC,gnomAD
rs370230857	p.Ala636Val	missense variant	-	NC_000020.11:g.32434619C>T	ESP,ExAC,TOPMed,gnomAD
RCV000662109	p.Ala637Gly	missense variant	Myelodysplastic syndrome (MDS)	NC_000020.11:g.32434622C>G	ClinVar
RCV000662110	p.Ala637Gly	missense variant	Juvenile myelomonocytic leukemia (JMML)	NC_000020.11:g.32434622C>G	ClinVar
rs769053835	p.Ala637Gly	missense variant	-	NC_000020.11:g.32434622C>G	ExAC,TOPMed,gnomAD
rs769053835	p.Ala637Val	missense variant	-	NC_000020.11:g.32434622C>T	ExAC,TOPMed,gnomAD
rs1183315960	p.Ala637Thr	missense variant	-	NC_000020.11:g.32434621G>A	gnomAD
rs1425060838	p.Ile641Ser	missense variant	-	NC_000020.11:g.32434634T>G	gnomAD
rs1451193317	p.Ile641Val	missense variant	-	NC_000020.11:g.32434633A>G	gnomAD
rs892732207	p.Gly642Ter	stop gained	-	NC_000020.11:g.32434636G>T	gnomAD
rs892732207	p.Gly642Arg	missense variant	-	NC_000020.11:g.32434636G>A	gnomAD
rs773395454	p.Gly643Arg	missense variant	-	NC_000020.11:g.32434639G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly643ArgPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.32434637_32434638insT	NCI-TCGA
rs773395454	p.Gly643Trp	missense variant	-	NC_000020.11:g.32434639G>T	ExAC,TOPMed,gnomAD
rs201649676	p.Gly643Ala	missense variant	-	NC_000020.11:g.32434640G>C	ExAC,TOPMed,gnomAD
rs201649676	p.Gly643Glu	missense variant	-	NC_000020.11:g.32434640G>A	ExAC,TOPMed,gnomAD
rs201649676	p.Gly643Val	missense variant	-	NC_000020.11:g.32434640G>T	ExAC,TOPMed,gnomAD
rs533988689	p.Gly644Trp	missense variant	-	NC_000020.11:g.32434642G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs751215316	p.Gly645Val	missense variant	-	NC_000020.11:g.32434646G>T	ExAC,TOPMed
rs781077343	p.Gly645ValPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.32434639G>-	NCI-TCGA,NCI-TCGA Cosmic
RCV000677687	p.Gly646Ter	frameshift	C-like syndrome (BOPS)	NC_000020.11:g.32434646dup	ClinVar
rs756958159	p.Gly646TrpPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.32434638_32434639insG	NCI-TCGA,NCI-TCGA Cosmic
RCV000489373	p.Gly646Ter	frameshift	-	NC_000020.11:g.32434646dup	ClinVar
rs745371501	p.Pro647Leu	missense variant	-	NC_000020.11:g.32434652C>T	ExAC,gnomAD
rs1228100817	p.Pro647Thr	missense variant	-	NC_000020.11:g.32434651C>A	gnomAD
rs1391303880	p.Gly648Ala	missense variant	-	NC_000020.11:g.32434655G>C	gnomAD
rs1273026836	p.Gly649Glu	missense variant	-	NC_000020.11:g.32434658G>A	gnomAD
COSM6159429	p.Gly650Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32434661G>A	NCI-TCGA Cosmic
RCV000120105	p.Gly652Ser	missense variant	-	NC_000020.11:g.32434666G>A	ClinVar
rs3746609	p.Gly652Ser	missense variant	-	NC_000020.11:g.32434666G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000273071	p.Gly652Ser	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32434666G>A	ClinVar
rs537734228	p.Gly653Arg	missense variant	-	NC_000020.11:g.32434669G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1187663391	p.Gly653Glu	missense variant	-	NC_000020.11:g.32434670G>A	gnomAD
rs200756074	p.Ala654Asp	missense variant	-	NC_000020.11:g.32434673C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200756074	p.Ala654Val	missense variant	-	NC_000020.11:g.32434673C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1378106478	p.Ala654Thr	missense variant	-	NC_000020.11:g.32434672G>A	TOPMed
rs776979634	p.Thr655Ala	missense variant	-	NC_000020.11:g.32434675A>G	ExAC,TOPMed,gnomAD
rs765459479	p.Asp656Asn	missense variant	-	NC_000020.11:g.32434678G>A	ExAC,TOPMed,gnomAD
COSM1025728	p.Gly660Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32434691G>A	NCI-TCGA Cosmic
rs763013543	p.Ser663Asn	missense variant	-	NC_000020.11:g.32434700G>A	ExAC,TOPMed,gnomAD
rs775538653	p.Ser663Gly	missense variant	-	NC_000020.11:g.32434699A>G	ExAC
NCI-TCGA novel	p.Ser664Arg	missense variant	-	NC_000020.11:g.32434704C>G	NCI-TCGA
rs963788591	p.Ser665Asn	missense variant	-	NC_000020.11:g.32434706G>A	TOPMed,gnomAD
rs963788591	p.Ser665Thr	missense variant	-	NC_000020.11:g.32434706G>C	TOPMed,gnomAD
rs973698132	p.Gly666Cys	missense variant	-	NC_000020.11:g.32434708G>T	TOPMed
rs763933091	p.Asp667Asn	missense variant	-	NC_000020.11:g.32434711G>A	ExAC,gnomAD
rs751323580	p.Gly669Ser	missense variant	-	NC_000020.11:g.32434717G>A	ExAC,gnomAD
rs756863234	p.Gly669Asp	missense variant	-	NC_000020.11:g.32434718G>A	ExAC,gnomAD
rs1270407759	p.Ala671Gly	missense variant	-	NC_000020.11:g.32434724C>G	gnomAD
rs1284133354	p.Cys672Tyr	missense variant	-	NC_000020.11:g.32434727G>A	TOPMed
rs750146260	p.His674Tyr	missense variant	-	NC_000020.11:g.32434732C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro675Leu	missense variant	-	NC_000020.11:g.32434736C>T	NCI-TCGA
rs1026621329	p.Glu676Lys	missense variant	-	NC_000020.11:g.32434738G>A	TOPMed,gnomAD
COSM3727757	p.Gly679Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32434747G>T	NCI-TCGA Cosmic
rs375968114	p.Gly680Val	missense variant	-	NC_000020.11:g.32434751G>T	ESP,ExAC,TOPMed,gnomAD
rs375968114	p.Gly680Asp	missense variant	-	NC_000020.11:g.32434751G>A	ESP,ExAC,TOPMed,gnomAD
rs1245899583	p.Thr683Ala	missense variant	-	NC_000020.11:g.32434759A>G	gnomAD
rs758924265	p.Pro684Leu	missense variant	-	NC_000020.11:g.32434763C>T	ExAC,gnomAD
rs369152088	p.Gly685Arg	missense variant	-	NC_000020.11:g.32434765G>A	ESP,ExAC,TOPMed,gnomAD
rs1323571527	p.Lys686Arg	missense variant	-	NC_000020.11:g.32434769A>G	TOPMed
rs142450571	p.Cys687Tyr	missense variant	-	NC_000020.11:g.32434772G>A	ESP,ExAC,gnomAD
rs140197482	p.Cys687Gly	missense variant	-	NC_000020.11:g.32434771T>G	ESP,ExAC,TOPMed,gnomAD
rs140197482	p.Cys687Arg	missense variant	-	NC_000020.11:g.32434771T>C	ESP,ExAC,TOPMed,gnomAD
rs1160049111	p.Cys687Ter	stop gained	-	NC_000020.11:g.32434773T>A	TOPMed
rs375094000	p.Thr688Met	missense variant	-	NC_000020.11:g.32434775C>T	ESP,ExAC,TOPMed,gnomAD
rs1387681483	p.Ser689Ter	stop gained	-	NC_000020.11:g.32434778C>A	TOPMed,gnomAD
rs1387681483	p.Ser689Ter	stop gained	-	NC_000020.11:g.32434778C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Asp690His	missense variant	-	NC_000020.11:g.32434780G>C	NCI-TCGA
rs1478929932	p.Gln692Ter	stop gained	-	NC_000020.11:g.32434786C>T	TOPMed
RCV000760645	p.Arg693Ter	nonsense	-	NC_000020.11:g.32434789C>T	ClinVar
rs373221034	p.Arg693Ter	stop gained	-	NC_000020.11:g.32434789C>T	ESP,ExAC,TOPMed,gnomAD
rs1324197580	p.Pro698Ser	missense variant	-	NC_000020.11:g.32434804C>T	gnomAD
rs1261178797	p.Tyr700Ter	stop gained	-	NC_000020.11:g.32434812T>A	TOPMed
RCV000660864	p.Tyr700Ter	nonsense	Myelodysplasia	NC_000020.11:g.32434812T>A	ClinVar
rs1266159630	p.Tyr700Cys	missense variant	-	NC_000020.11:g.32434811A>G	gnomAD
rs764131486	p.Asn703Ser	missense variant	-	NC_000020.11:g.32434820A>G	ExAC,gnomAD
rs151317625	p.Gly704Arg	missense variant	-	NC_000020.11:g.32434822G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs151317625	p.Gly704Arg	missense variant	-	NC_000020.11:g.32434822G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs151317625	p.Gly704Trp	missense variant	-	NC_000020.11:g.32434822G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000382802	p.Gly704Arg	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32434822G>A	ClinVar
rs778670589	p.Glu705SerPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.32434822G>-	NCI-TCGA,NCI-TCGA Cosmic
rs1054427525	p.His706Arg	missense variant	-	NC_000020.11:g.32434829A>G	TOPMed
rs755789372	p.Gln708Ter	stop gained	-	NC_000020.11:g.32434834C>T	ExAC,gnomAD
rs868859861	p.Ala709Ser	missense variant	-	NC_000020.11:g.32434837G>T	gnomAD
rs868859861	p.Ala709Thr	missense variant	-	NC_000020.11:g.32434837G>A	gnomAD
NCI-TCGA novel	p.Met713Lys	missense variant	-	NC_000020.11:g.32434850T>A	NCI-TCGA
rs1269615976	p.Met713Val	missense variant	-	NC_000020.11:g.32434849A>G	gnomAD
rs765820800	p.Met713Ile	missense variant	-	NC_000020.11:g.32434851G>A	ExAC,gnomAD
rs1366033786	p.Ala716Val	missense variant	-	NC_000020.11:g.32434859C>T	gnomAD
rs1337715441	p.Arg717Ser	missense variant	-	NC_000020.11:g.32434863G>C	TOPMed
rs1158922559	p.Arg718Gly	missense variant	-	NC_000020.11:g.32434864A>G	gnomAD
rs754554150	p.Arg718Lys	missense variant	-	NC_000020.11:g.32434865G>A	ExAC,gnomAD
rs781644673	p.Arg725Lys	missense variant	-	NC_000020.11:g.32434886G>A	ExAC,gnomAD
rs757533853	p.Arg725Ter	stop gained	-	NC_000020.11:g.32434885A>T	ExAC,TOPMed,gnomAD
rs1415948169	p.Lys726Ter	stop gained	-	NC_000020.11:g.32434888A>T	TOPMed
rs1239535844	p.Lys726Arg	missense variant	-	NC_000020.11:g.32434889A>G	gnomAD
rs1264581343	p.Glu727Ter	stop gained	-	NC_000020.11:g.32434891G>T	gnomAD
rs1264581343	p.Glu727Gln	missense variant	-	NC_000020.11:g.32434891G>C	gnomAD
rs1292764187	p.Leu731Arg	missense variant	-	NC_000020.11:g.32434904T>G	gnomAD
rs770152895	p.Leu732Pro	missense variant	-	NC_000020.11:g.32434907T>C	ExAC,gnomAD
RCV000023980	p.Gln733Ter	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32434909C>T	ClinVar
rs768911270	p.Gln733His	missense variant	-	NC_000020.11:g.32434911G>T	ExAC,gnomAD
rs370211132	p.Gln733Leu	missense variant	-	NC_000020.11:g.32434910A>T	ESP,ExAC,TOPMed,gnomAD
rs387907078	p.Gln733Ter	stop gained	-	NC_000020.11:g.32434909C>T	ExAC
rs774130477	p.Arg734Gly	missense variant	-	NC_000020.11:g.32434912A>G	ExAC,gnomAD
rs1392100102	p.Thr736Ile	missense variant	-	NC_000020.11:g.32434919C>T	gnomAD
rs761847705	p.Val737Ala	missense variant	-	NC_000020.11:g.32434922T>C	ExAC,gnomAD
rs1165142818	p.Gly738Ter	stop gained	-	NC_000020.11:g.32434924G>T	gnomAD
COSM1318846	p.Gly738AspPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32434924G>-	NCI-TCGA Cosmic
rs771719149	p.Leu739Ile	missense variant	-	NC_000020.11:g.32434927C>A	ExAC,TOPMed,gnomAD
rs773075570	p.Thr740Ile	missense variant	-	NC_000020.11:g.32434931C>T	ExAC,gnomAD
rs149971443	p.Asp741Val	missense variant	-	NC_000020.11:g.32434934A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1375465937	p.Gly742Trp	missense variant	-	NC_000020.11:g.32434936G>T	gnomAD
NCI-TCGA novel	p.Gly744ProPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.32434939_32434949CTAGGAGATGC>-	NCI-TCGA
rs1311916988	p.Gly744Ter	stop gained	-	NC_000020.11:g.32434942G>T	gnomAD
rs764844021	p.Ala746Val	missense variant	-	NC_000020.11:g.32434949C>T	ExAC,gnomAD
rs759026497	p.Ala746Thr	missense variant	-	NC_000020.11:g.32434948G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln748Glu	missense variant	-	NC_000020.11:g.32434954C>G	NCI-TCGA
rs1202551247	p.Gln748Ter	stop gained	-	NC_000020.11:g.32434954C>T	gnomAD
rs1218506765	p.Pro750Ser	missense variant	-	NC_000020.11:g.32434960C>T	TOPMed
RCV000284499	p.Val751Ile	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32434963G>A	ClinVar
rs6058693	p.Val751Phe	missense variant	-	NC_000020.11:g.32434963G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs6058693	p.Val751Ile	missense variant	-	NC_000020.11:g.32434963G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr754Ile	missense variant	-	NC_000020.11:g.32434973C>T	NCI-TCGA
rs1184551610	p.Thr754Ser	missense variant	-	NC_000020.11:g.32434973C>G	gnomAD
rs749566656	p.Thr754Ser	missense variant	-	NC_000020.11:g.32434972A>T	ExAC,TOPMed,gnomAD
rs749566656	p.Thr754Ala	missense variant	-	NC_000020.11:g.32434972A>G	ExAC,TOPMed,gnomAD
rs768821774	p.Asp756Ala	missense variant	-	NC_000020.11:g.32434979A>C	ExAC,gnomAD
rs779078826	p.Gln757Ter	stop gained	-	NC_000020.11:g.32434981C>T	ExAC,gnomAD
rs1167715259	p.Gln760Ter	stop gained	-	NC_000020.11:g.32434990C>T	gnomAD
rs146052718	p.Ala761Thr	missense variant	-	NC_000020.11:g.32434993G>A	ESP,ExAC,TOPMed,gnomAD
rs1171138318	p.Leu765Pro	missense variant	-	NC_000020.11:g.32435006T>C	TOPMed
rs1364748695	p.Ser766Phe	missense variant	-	NC_000020.11:g.32435009C>T	gnomAD
rs376999466	p.Ser767Tyr	missense variant	-	NC_000020.11:g.32435012C>A	ESP,ExAC,TOPMed,gnomAD
rs770762273	p.Gln768Ter	stop gained	-	NC_000020.11:g.32435014C>T	ExAC,gnomAD
rs1308210159	p.Thr769Ile	missense variant	-	NC_000020.11:g.32435018C>T	gnomAD
rs776235263	p.Ser770Ter	stop gained	-	NC_000020.11:g.32435021C>A	ExAC
rs1261856158	p.Ala772Thr	missense variant	-	NC_000020.11:g.32435026G>A	TOPMed,gnomAD
rs1261856158	p.Ala772Pro	missense variant	-	NC_000020.11:g.32435026G>C	TOPMed,gnomAD
rs1463010740	p.Ala772Val	missense variant	-	NC_000020.11:g.32435027C>T	TOPMed,gnomAD
rs759218892	p.Glu773Ter	stop gained	-	NC_000020.11:g.32435029G>T	ExAC,TOPMed,gnomAD
rs759218892	p.Glu773Gln	missense variant	-	NC_000020.11:g.32435029G>C	ExAC,TOPMed,gnomAD
rs764604832	p.Arg774Gly	missense variant	-	NC_000020.11:g.32435032A>G	ExAC,TOPMed,gnomAD
rs752263134	p.Leu775Ter	stop gained	-	NC_000020.11:g.32435036T>A	ExAC,TOPMed,gnomAD
rs752263134	p.Leu775Ter	stop gained	-	NC_000020.11:g.32435036T>G	ExAC,TOPMed,gnomAD
rs41289850	p.Pro779Leu	missense variant	-	NC_000020.11:g.32435048C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751021760	p.Gln780Ter	stop gained	-	NC_000020.11:g.32435050C>T	ExAC,TOPMed,gnomAD
rs375321203	p.Pro783Leu	missense variant	-	NC_000020.11:g.32435060C>T	ESP,ExAC,TOPMed,gnomAD
rs1320557612	p.Pro783Ala	missense variant	-	NC_000020.11:g.32435059C>G	TOPMed
rs780602254	p.Asp784Asn	missense variant	-	NC_000020.11:g.32435062G>A	ExAC,gnomAD
rs754070978	p.Arg786Lys	missense variant	-	NC_000020.11:g.32435069G>A	ExAC,TOPMed,gnomAD
rs1290901944	p.Thr787Asn	missense variant	-	NC_000020.11:g.32435072C>A	gnomAD
rs755243804	p.Thr787Ala	missense variant	-	NC_000020.11:g.32435071A>G	ExAC,gnomAD
rs1402270258	p.Glu788Ter	stop gained	-	NC_000020.11:g.32435074G>T	TOPMed
rs1163284834	p.Cys789Trp	missense variant	-	NC_000020.11:g.32435079T>G	TOPMed,gnomAD
rs1386308534	p.Cys789Tyr	missense variant	-	NC_000020.11:g.32435078G>A	gnomAD
RCV000722668	p.Glu790Ter	nonsense	-	NC_000020.11:g.32435079dup	ClinVar
rs748259651	p.Glu790Lys	missense variant	-	NC_000020.11:g.32435080G>A	ExAC,gnomAD
rs377589713	p.Gly792Ala	missense variant	-	NC_000020.11:g.32435087G>C	ESP,ExAC,TOPMed,gnomAD
rs777666293	p.Thr794Ala	missense variant	-	NC_000020.11:g.32435092A>G	ExAC,gnomAD
rs746990403	p.Ser795Phe	missense variant	-	NC_000020.11:g.32435096C>T	ExAC,TOPMed
RCV000396645	p.Trp796Ser	missense variant	-	NC_000020.11:g.32435099G>C	ClinVar
rs770674396	p.Trp796Ser	missense variant	-	NC_000020.11:g.32435099G>C	ExAC,TOPMed,gnomAD
rs770674396	p.Trp796Ter	stop gained	-	NC_000020.11:g.32435099G>A	ExAC,TOPMed,gnomAD
rs148047779	p.Ser798Gly	missense variant	-	NC_000020.11:g.32435104A>G	ESP
rs143594454	p.Asp799Tyr	missense variant	-	NC_000020.11:g.32435107G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000120107	p.Asp799Tyr	missense variant	-	NC_000020.11:g.32435107G>T	ClinVar
rs1178321509	p.Asp800Glu	missense variant	-	NC_000020.11:g.32435112T>G	TOPMed
rs769490912	p.Glu801Val	missense variant	-	NC_000020.11:g.32435114A>T	ExAC,gnomAD
rs775071544	p.Gln803Ter	stop gained	-	NC_000020.11:g.32435119C>T	ExAC,gnomAD
rs370929899	p.Pro805Thr	missense variant	-	NC_000020.11:g.32435125C>A	ESP,ExAC,TOPMed,gnomAD
rs775227254	p.Thr806Ile	missense variant	-	NC_000020.11:g.32435129C>T	ExAC,gnomAD
rs763556409	p.Thr806Pro	missense variant	-	NC_000020.11:g.32435128A>C	ExAC,TOPMed,gnomAD
rs1223133675	p.Val807Ala	missense variant	-	NC_000020.11:g.32435132T>C	TOPMed
RCV000297894	p.Val807Ile	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32435131G>A	ClinVar
rs138624526	p.Val807Ile	missense variant	-	NC_000020.11:g.32435131G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368640734	p.Pro808Ala	missense variant	-	NC_000020.11:g.32435134C>G	ESP,ExAC,TOPMed,gnomAD
rs141610022	p.Pro808Leu	missense variant	-	NC_000020.11:g.32435135C>T	ESP,ExAC,TOPMed,gnomAD
rs368640734	p.Pro808Ser	missense variant	-	NC_000020.11:g.32435134C>T	ESP,ExAC,TOPMed,gnomAD
rs141610022	p.Pro808His	missense variant	-	NC_000020.11:g.32435135C>A	ESP,ExAC,TOPMed,gnomAD
rs765488094	p.Asp810Gly	missense variant	-	NC_000020.11:g.32435141A>G	ExAC,gnomAD
RCV000336523	p.Asn811Ser	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32435144A>G	ClinVar
rs752916428	p.Asn811Asp	missense variant	-	NC_000020.11:g.32435143A>G	ExAC,TOPMed,gnomAD
rs758473430	p.Asn811Ser	missense variant	-	NC_000020.11:g.32435144A>G	ExAC,gnomAD
rs1307463870	p.Pro813Ser	missense variant	-	NC_000020.11:g.32435149C>T	TOPMed
rs1386086869	p.Pro813Leu	missense variant	-	NC_000020.11:g.32435150C>T	TOPMed
rs6058694	p.Pro815Leu	missense variant	-	NC_000020.11:g.32435156C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val818Ala	missense variant	-	NC_000020.11:g.32435165T>C	NCI-TCGA
rs1285319437	p.Asp820Val	missense variant	-	NC_000020.11:g.32435171A>T	gnomAD
rs757201886	p.Asp820Asn	missense variant	-	NC_000020.11:g.32435170G>A	ExAC,gnomAD
rs1366325013	p.Asp821Asn	missense variant	-	NC_000020.11:g.32435173G>A	TOPMed
rs780896078	p.Asp821Gly	missense variant	-	NC_000020.11:g.32435174A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr822Ala	missense variant	-	NC_000020.11:g.32435176A>G	NCI-TCGA
NCI-TCGA novel	p.Leu823Val	missense variant	-	NC_000020.11:g.32435179T>G	NCI-TCGA
rs140139096	p.Leu823Ser	missense variant	-	NC_000020.11:g.32435180T>C	ESP,ExAC,TOPMed,gnomAD
rs532964069	p.Glu824Gln	missense variant	-	NC_000020.11:g.32435182G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs775181549	p.Glu824Gly	missense variant	-	NC_000020.11:g.32435183A>G	ExAC,gnomAD
rs748929407	p.Lys825Ile	missense variant	-	NC_000020.11:g.32435186A>T	ExAC,gnomAD
RCV000479943	p.Gly826Ter	frameshift	-	NC_000020.11:g.32435189del	ClinVar
rs774018728	p.Gly826Ter	stop gained	-	NC_000020.11:g.32435188G>T	ExAC,gnomAD
rs372805894	p.Gly828Asp	missense variant	-	NC_000020.11:g.32435195G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777338946	p.Leu831Phe	missense variant	-	NC_000020.11:g.32435203C>T	ExAC
RCV000723267	p.Asp832Ter	frameshift	-	NC_000020.11:g.32435207_32435210del	ClinVar
rs759926643	p.Asp832Gly	missense variant	-	NC_000020.11:g.32435207A>G	ExAC,TOPMed,gnomAD
rs765560488	p.Ser833Asn	missense variant	-	NC_000020.11:g.32435210G>A	ExAC,gnomAD
rs373580114	p.Thr836Pro	missense variant	-	NC_000020.11:g.32435218A>C	ESP,ExAC,TOPMed,gnomAD
rs373580114	p.Thr836Ala	missense variant	-	NC_000020.11:g.32435218A>G	ESP,ExAC,TOPMed,gnomAD
rs1353280422	p.Met837Thr	missense variant	-	NC_000020.11:g.32435222T>C	gnomAD
rs763660723	p.Lys838Asn	missense variant	-	NC_000020.11:g.32435226G>T	ExAC,TOPMed,gnomAD
RCV000437602	p.Lys838Arg	missense variant	-	NC_000020.11:g.32435225A>G	ClinVar
rs35632616	p.Lys838Arg	missense variant	-	NC_000020.11:g.32435225A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3545254	p.Pro840Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32435230C>T	NCI-TCGA Cosmic
rs751641574	p.Val841Ala	missense variant	-	NC_000020.11:g.32435234T>C	ExAC,gnomAD
rs367751731	p.Asn842Ser	missense variant	-	NC_000020.11:g.32435237A>G	ESP,ExAC,TOPMed,gnomAD
rs750376029	p.Val843Ala	missense variant	-	NC_000020.11:g.32435240T>C	ExAC,gnomAD
rs750170870	p.Ser846GlnPheSerTerUnk	frameshift	-	NC_000020.11:g.32435242_32435243insC	NCI-TCGA,NCI-TCGA Cosmic
rs148575778	p.Ser846Asn	missense variant	-	NC_000020.11:g.32435249G>A	ESP,ExAC,TOPMed,gnomAD
rs1233368049	p.Ser846Arg	missense variant	-	NC_000020.11:g.32435248A>C	gnomAD
rs1167411017	p.Ser851Phe	missense variant	-	NC_000020.11:g.32435264C>T	gnomAD
rs371542005	p.Ser852Leu	missense variant	-	NC_000020.11:g.32435267C>T	ESP,ExAC,TOPMed,gnomAD
rs147666865	p.Pro853Leu	missense variant	-	NC_000020.11:g.32435270C>T	ESP,ExAC,TOPMed,gnomAD
rs140851370	p.Cys856Ter	stop gained	-	NC_000020.11:g.32435280C>A	ESP,ExAC,TOPMed,gnomAD
rs1429658374	p.Gln858Arg	missense variant	-	NC_000020.11:g.32435285A>G	gnomAD
rs1170492819	p.Ala861Ser	missense variant	-	NC_000020.11:g.32435293G>T	gnomAD
rs764294559	p.Asp863Gly	missense variant	-	NC_000020.11:g.32435300A>G	ExAC,TOPMed,gnomAD
COSM443636	p.Asp863His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32435299G>C	NCI-TCGA Cosmic
rs147895689	p.Glu865Lys	missense variant	-	NC_000020.11:g.32435305G>A	ESP,ExAC,TOPMed,gnomAD
rs767625019	p.Glu865Asp	missense variant	-	NC_000020.11:g.32435307A>T	ExAC
rs147895689	p.Glu865Ter	stop gained	-	NC_000020.11:g.32435305G>T	ESP,ExAC,TOPMed,gnomAD
rs1448291477	p.Leu868Arg	missense variant	-	NC_000020.11:g.32435315T>G	TOPMed
COSM4832816	p.Ser871Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32435324C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys872Ter	frameshift	-	NC_000020.11:g.32435299_32435300insATGACGAATTAGGGCTTGGTGGCTC	NCI-TCGA
rs779837740	p.Cys872Trp	missense variant	-	NC_000020.11:g.32435328C>G	ExAC,gnomAD
rs202098158	p.Pro873Leu	missense variant	-	NC_000020.11:g.32435330C>T	ExAC,TOPMed,gnomAD
rs932939917	p.Pro873Ser	missense variant	-	NC_000020.11:g.32435329C>T	gnomAD
rs778687016	p.Pro874Ser	missense variant	-	NC_000020.11:g.32435332C>T	ExAC,gnomAD
rs747843845	p.Met875Val	missense variant	-	NC_000020.11:g.32435335A>G	ExAC,gnomAD
rs1482135728	p.Met875Arg	missense variant	-	NC_000020.11:g.32435336T>G	TOPMed
rs771673303	p.Glu877Ala	missense variant	-	NC_000020.11:g.32435342A>C	ExAC,gnomAD
rs777174656	p.Ser878Arg	missense variant	-	NC_000020.11:g.32435346T>A	ExAC,gnomAD
rs1168526965	p.Ser878Gly	missense variant	-	NC_000020.11:g.32435344A>G	gnomAD
NCI-TCGA novel	p.Arg881Thr	missense variant	-	NC_000020.11:g.32435354G>C	NCI-TCGA
rs746330612	p.Arg881Ter	stop gained	-	NC_000020.11:g.32435353A>T	ExAC,gnomAD
rs770209084	p.Gln882Ter	stop gained	-	NC_000020.11:g.32435356C>T	ExAC,gnomAD
rs1317256185	p.Lys888Glu	missense variant	-	NC_000020.11:g.32435374A>G	gnomAD
NCI-TCGA novel	p.Lys888Arg	missense variant	-	NC_000020.11:g.32435375A>G	NCI-TCGA
rs763287860	p.Ala889Thr	missense variant	-	NC_000020.11:g.32435377G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu890SerPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.32435380C>-	NCI-TCGA
rs774520876	p.Val891Ile	missense variant	-	NC_000020.11:g.32435383G>A	ExAC,TOPMed,gnomAD
COSM1411089	p.Ser892Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32435386T>G	NCI-TCGA Cosmic
rs1339444705	p.Ser892Pro	missense variant	-	NC_000020.11:g.32435386T>C	gnomAD
rs762053816	p.Asn893Thr	missense variant	-	NC_000020.11:g.32435390A>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser894Arg	missense variant	-	NC_000020.11:g.32435392A>C	NCI-TCGA
rs767583580	p.Ser895Cys	missense variant	-	NC_000020.11:g.32435396C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser895Tyr	missense variant	-	NC_000020.11:g.32435396C>A	NCI-TCGA
rs1204296403	p.Leu896Ser	missense variant	-	NC_000020.11:g.32435399T>C	gnomAD
rs750481621	p.His897Arg	missense variant	-	NC_000020.11:g.32435402A>G	ExAC,TOPMed,gnomAD
rs760592730	p.Trp898Ter	stop gained	-	NC_000020.11:g.32435406G>A	ExAC,TOPMed,gnomAD
rs760592730	p.Trp898Cys	missense variant	-	NC_000020.11:g.32435406G>T	ExAC,TOPMed,gnomAD
COSM5945422	p.Trp898Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32435405G>A	NCI-TCGA Cosmic
rs766215027	p.Ile899Thr	missense variant	-	NC_000020.11:g.32435408T>C	ExAC,gnomAD
COSM4097559	p.Pro900Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32435410C>T	NCI-TCGA Cosmic
rs753864486	p.Ile901Ser	missense variant	-	NC_000020.11:g.32435414T>G	ExAC,gnomAD
rs753864486	p.Ile901Thr	missense variant	-	NC_000020.11:g.32435414T>C	ExAC,gnomAD
rs886848485	p.Pro902Gln	missense variant	-	NC_000020.11:g.32435417C>A	TOPMed
COSM4097561	p.Pro902Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32435416C>T	NCI-TCGA Cosmic
rs754790367	p.Ser903Leu	missense variant	-	NC_000020.11:g.32435420C>T	ExAC,TOPMed,gnomAD
rs765155567	p.Asn904Ser	missense variant	-	NC_000020.11:g.32435423A>G	ExAC,gnomAD
rs758140687	p.Asp905Val	missense variant	-	NC_000020.11:g.32435426A>T	ExAC,TOPMed,gnomAD
rs752352233	p.Asp905His	missense variant	-	NC_000020.11:g.32435425G>C	ExAC,gnomAD
rs758140687	p.Asp905Gly	missense variant	-	NC_000020.11:g.32435426A>G	ExAC,TOPMed,gnomAD
rs1402018333	p.Glu906Gln	missense variant	-	NC_000020.11:g.32435428G>C	TOPMed,gnomAD
rs1402018333	p.Glu906Ter	stop gained	-	NC_000020.11:g.32435428G>T	TOPMed,gnomAD
rs201990697	p.Val907Ile	missense variant	-	NC_000020.11:g.32435431G>A	1000Genomes,ExAC,gnomAD
rs780400187	p.Pro911Leu	missense variant	-	NC_000020.11:g.32435444C>T	ExAC,gnomAD
rs371903529	p.Pro911Ser	missense variant	-	NC_000020.11:g.32435443C>T	ESP,ExAC,TOPMed,gnomAD
rs749831576	p.Lys912Ter	stop gained	-	NC_000020.11:g.32435446A>T	ExAC,gnomAD
rs1046040722	p.Glu914Gly	missense variant	-	NC_000020.11:g.32435453A>G	TOPMed
rs549809573	p.Ile919Thr	missense variant	-	NC_000020.11:g.32435468T>C	1000Genomes,ExAC,TOPMed
rs1457205853	p.Ser921Pro	missense variant	-	NC_000020.11:g.32435473T>C	TOPMed
COSM1318845	p.Ser921ThrPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32435468_32435469insACCA	NCI-TCGA Cosmic
RCV000623209	p.Val922Ter	frameshift	Inborn genetic diseases	NC_000020.11:g.32435475_32435482delinsCAA	ClinVar
NCI-TCGA novel	p.Glu923Gln	missense variant	-	NC_000020.11:g.32435479G>C	NCI-TCGA
rs772187243	p.Pro924Ala	missense variant	-	NC_000020.11:g.32435482C>G	ExAC,gnomAD
rs387907077	p.Gln925Ter	stop gained	-	NC_000020.11:g.32435485C>T	-
rs1201635933	p.Gln925His	missense variant	-	NC_000020.11:g.32435487G>C	gnomAD
RCV000023976	p.Gln925Ter	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32435485C>T	ClinVar
rs150338765	p.Val926Ile	missense variant	-	NC_000020.11:g.32435488G>A	ESP,TOPMed,gnomAD
rs150338765	p.Val926Leu	missense variant	-	NC_000020.11:g.32435488G>C	ESP,TOPMed,gnomAD
rs1270268473	p.Gly927Arg	missense variant	-	NC_000020.11:g.32435491G>A	TOPMed,gnomAD
rs1418949221	p.Glu928Gly	missense variant	-	NC_000020.11:g.32435495A>G	gnomAD
RCV000760833	p.Trp930Ter	nonsense	-	NC_000020.11:g.32435502G>A	ClinVar
RCV000623598	p.Glu931Ter	frameshift	Inborn genetic diseases	NC_000020.11:g.32435503del	ClinVar
rs886056600	p.Lys932Asn	missense variant	-	NC_000020.11:g.32435508A>T	TOPMed,gnomAD
rs773543958	p.Ala934Ser	missense variant	-	NC_000020.11:g.32435512G>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro935Ala	missense variant	-	NC_000020.11:g.32435515C>G	NCI-TCGA
RCV000481700	p.Pro937Ter	frameshift	-	NC_000020.11:g.32435522del	ClinVar
rs1422246990	p.Leu940Val	missense variant	-	NC_000020.11:g.32435530T>G	gnomAD
rs1391377712	p.Thr945Ile	missense variant	-	NC_000020.11:g.32435546C>T	gnomAD
rs776670551	p.Glu947Gly	missense variant	-	NC_000020.11:g.32435552A>G	ExAC,gnomAD
rs1173257390	p.Glu948Lys	missense variant	-	NC_000020.11:g.32435554G>A	gnomAD
rs1021817273	p.Asp951Asn	missense variant	-	NC_000020.11:g.32435563G>A	TOPMed
rs1162142245	p.Asp951Gly	missense variant	-	NC_000020.11:g.32435564A>G	TOPMed
rs1337364512	p.Pro952Ala	missense variant	-	NC_000020.11:g.32435566C>G	gnomAD
rs759572953	p.Leu953Phe	missense variant	-	NC_000020.11:g.32435569C>T	ExAC,TOPMed,gnomAD
rs752471895	p.Asp954Glu	missense variant	-	NC_000020.11:g.32435574C>A	TOPMed
rs369771079	p.Ser955Gly	missense variant	-	NC_000020.11:g.32435575A>G	ESP,ExAC,TOPMed,gnomAD
rs752548239	p.Ser955Ile	missense variant	-	NC_000020.11:g.32435576G>T	ExAC,TOPMed,gnomAD
rs1236179195	p.Leu956Val	missense variant	-	NC_000020.11:g.32435578C>G	TOPMed
rs1266042922	p.Thr957Ala	missense variant	-	NC_000020.11:g.32435581A>G	TOPMed,gnomAD
rs1266042922	p.Thr957Pro	missense variant	-	NC_000020.11:g.32435581A>C	TOPMed,gnomAD
rs763638795	p.Ser958Leu	missense variant	-	NC_000020.11:g.32435585C>T	ExAC,TOPMed,gnomAD
rs751271712	p.Leu959His	missense variant	-	NC_000020.11:g.32435588T>A	ExAC,gnomAD
rs756688220	p.Trp960Ter	stop gained	-	NC_000020.11:g.32435592G>A	ExAC,gnomAD
rs1438791925	p.Trp960Ter	stop gained	-	NC_000020.11:g.32435591G>A	gnomAD
rs1442331965	p.Val962Ala	missense variant	-	NC_000020.11:g.32435597T>C	gnomAD
rs1164938216	p.Pro963Leu	missense variant	-	NC_000020.11:g.32435600C>T	gnomAD
rs749746806	p.Ser964Phe	missense variant	-	NC_000020.11:g.32435603C>T	ExAC,gnomAD
RCV000255108	p.Arg965Ter	nonsense	-	NC_000020.11:g.32435605C>T	ClinVar
NCI-TCGA novel	p.Arg965Pro	missense variant	-	NC_000020.11:g.32435606G>C	NCI-TCGA
RCV000032665	p.Arg965Ter	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32435605C>T	ClinVar
rs397515401	p.Arg965Ter	stop gained	-	NC_000020.11:g.32435605C>T	ExAC,TOPMed
rs1461025360	p.Asp969Asn	missense variant	-	NC_000020.11:g.32435617G>A	TOPMed,gnomAD
RCV000309886	p.Ser970Gly	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32435620A>G	ClinVar
rs886056601	p.Ser970Gly	missense variant	-	NC_000020.11:g.32435620A>G	TOPMed
rs779180512	p.Asn971Ser	missense variant	-	NC_000020.11:g.32435624A>G	ExAC,TOPMed,gnomAD
rs199785280	p.Asn971Lys	missense variant	-	NC_000020.11:g.32435625T>A	TOPMed,gnomAD
rs748505783	p.Gly972Val	missense variant	-	NC_000020.11:g.32435627G>T	ExAC,gnomAD
rs773277713	p.Ser973Asn	missense variant	-	NC_000020.11:g.32435630G>A	ExAC,TOPMed,gnomAD
rs772538894	p.Ser973Gly	missense variant	-	NC_000020.11:g.32435629A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr974LeuPheSerTerUnk	frameshift	-	NC_000020.11:g.32435630_32435631insT	NCI-TCGA
rs747287523	p.Tyr974His	missense variant	-	NC_000020.11:g.32435632T>C	ExAC,gnomAD
RCV000255194	p.Tyr974Ter	nonsense	-	NC_000020.11:g.32435634C>A	ClinVar
rs886039722	p.Tyr974Ter	stop gained	-	NC_000020.11:g.32435634C>A	-
rs776868653	p.Gln976Glu	missense variant	-	NC_000020.11:g.32435638C>G	ExAC,TOPMed,gnomAD
rs776868653	p.Gln976Ter	stop gained	-	NC_000020.11:g.32435638C>T	ExAC,TOPMed,gnomAD
rs1366953593	p.Gln977Ter	stop gained	-	NC_000020.11:g.32435641C>T	TOPMed
NCI-TCGA novel	p.Asp979His	missense variant	-	NC_000020.11:g.32435647G>C	NCI-TCGA
rs765264117	p.Ile980Val	missense variant	-	NC_000020.11:g.32435650A>G	ExAC,TOPMed,gnomAD
rs775628738	p.Ile980Asn	missense variant	-	NC_000020.11:g.32435651T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu981Gln	missense variant	-	NC_000020.11:g.32435653G>C	NCI-TCGA
rs762630959	p.Glu981Lys	missense variant	-	NC_000020.11:g.32435653G>A	ExAC,gnomAD
rs763987748	p.Glu981Gly	missense variant	-	NC_000020.11:g.32435654A>G	ExAC,TOPMed,gnomAD
rs1462930926	p.Lys982Ter	stop gained	-	NC_000020.11:g.32435656A>T	gnomAD
rs1183288483	p.Lys984Ile	missense variant	-	NC_000020.11:g.32435663A>T	gnomAD
rs145132837	p.Asn986Ser	missense variant	-	NC_000020.11:g.32435669A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000362320	p.Asn986Ser	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32435669A>G	ClinVar
rs376074119	p.Gly987Arg	missense variant	-	NC_000020.11:g.32435671G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749938743	p.Asp988Glu	missense variant	-	NC_000020.11:g.32435676C>G	ExAC,TOPMed,gnomAD
RCV000481961	p.Asp988Ter	nonsense	-	NC_000020.11:g.32435676_32435677CT[1]	ClinVar
rs1362999533	p.Ser989Phe	missense variant	-	NC_000020.11:g.32435678C>T	gnomAD
NCI-TCGA novel	p.Glu990Gly	missense variant	-	NC_000020.11:g.32435681A>G	NCI-TCGA
rs1226960123	p.Ser993Asn	missense variant	-	NC_000020.11:g.32435690G>A	TOPMed,gnomAD
rs779372602	p.Pro994Leu	missense variant	-	NC_000020.11:g.32435693C>T	ExAC,gnomAD
rs1297740523	p.Gly996Ser	missense variant	-	NC_000020.11:g.32435698G>A	gnomAD
rs786205552	p.Glu997Lys	missense variant	-	NC_000020.11:g.32435701G>A	TOPMed
RCV000171345	p.Glu997Gln	missense variant	-	NC_000020.11:g.32435701G>C	ClinVar
rs786205552	p.Glu997Gln	missense variant	-	NC_000020.11:g.32435701G>C	TOPMed
COSM478003	p.Glu997Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32435701G>T	NCI-TCGA Cosmic
rs758650315	p.Ser998Thr	missense variant	-	NC_000020.11:g.32435704T>A	ExAC,gnomAD
rs778222400	p.Thr999Met	missense variant	-	NC_000020.11:g.32435708C>T	ExAC,TOPMed,gnomAD
rs771192600	p.Asp1000His	missense variant	-	NC_000020.11:g.32435710G>C	ExAC,gnomAD
rs781631529	p.Asp1000Gly	missense variant	-	NC_000020.11:g.32435711A>G	ExAC,gnomAD
rs781631529	p.Asp1000Val	missense variant	-	NC_000020.11:g.32435711A>T	ExAC,gnomAD
rs1217127877	p.Thr1001Ala	missense variant	-	NC_000020.11:g.32435713A>G	TOPMed,gnomAD
rs1222268104	p.Ser1003Ala	missense variant	-	NC_000020.11:g.32435719T>G	TOPMed
COSM4097563	p.Asp1004Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32435722G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1006Ter	stop gained	-	NC_000020.11:g.32435728G>T	NCI-TCGA
COSM443638	p.Glu1006Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32435728G>A	NCI-TCGA Cosmic
rs116112525	p.Thr1010Met	missense variant	-	NC_000020.11:g.32435741C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000322609	p.Thr1010Met	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32435741C>T	ClinVar
rs116112525	p.Thr1010Arg	missense variant	-	NC_000020.11:g.32435741C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762976045	p.Ser1014Asn	missense variant	-	NC_000020.11:g.32435753G>A	ExAC,TOPMed,gnomAD
rs762976045	p.Ser1014Thr	missense variant	-	NC_000020.11:g.32435753G>C	ExAC,TOPMed,gnomAD
rs1358222587	p.Ser1014Arg	missense variant	-	NC_000020.11:g.32435752A>C	TOPMed
rs774209416	p.Glu1015Gly	missense variant	-	NC_000020.11:g.32435756A>G	ExAC
RCV000483005	p.Ala1016GlnTer	nonsense	-	NC_000020.11:g.32435751_32435757dup	ClinVar
NCI-TCGA novel	p.Ala1016Ter	frameshift	-	NC_000020.11:g.32435756_32435777AGGCTGACACTAGAGAAGCTGC>-	NCI-TCGA
rs1470848941	p.Ala1016Val	missense variant	-	NC_000020.11:g.32435759C>T	TOPMed,gnomAD
rs1465626973	p.Asp1017His	missense variant	-	NC_000020.11:g.32435761G>C	gnomAD
rs545071926	p.Asp1017Ala	missense variant	-	NC_000020.11:g.32435762A>C	1000Genomes,ExAC,gnomAD
rs560170731	p.Thr1018Pro	missense variant	-	NC_000020.11:g.32435764A>C	1000Genomes,ExAC,gnomAD
rs560170731	p.Thr1018Ser	missense variant	-	NC_000020.11:g.32435764A>T	1000Genomes,ExAC,gnomAD
rs1451811723	p.Arg1019Ser	missense variant	-	NC_000020.11:g.32435769A>C	gnomAD
rs760148910	p.Arg1019Gly	missense variant	-	NC_000020.11:g.32435767A>G	ExAC
rs765907136	p.Glu1020Lys	missense variant	-	NC_000020.11:g.32435770G>A	ExAC,gnomAD
rs1170698088	p.Ala1022Val	missense variant	-	NC_000020.11:g.32435777C>T	TOPMed
rs1341269354	p.Lys1025Thr	missense variant	-	NC_000020.11:g.32435786A>C	gnomAD
rs200702600	p.Ser1028Ter	stop gained	-	NC_000020.11:g.32435795C>A	ESP,ExAC,TOPMed,gnomAD
rs200702600	p.Ser1028Leu	missense variant	-	NC_000020.11:g.32435795C>T	ESP,ExAC,TOPMed,gnomAD
RCV000120095	p.Ser1028Leu	missense variant	-	NC_000020.11:g.32435795C>T	ClinVar
rs1046578139	p.Ser1028Ala	missense variant	-	NC_000020.11:g.32435794T>G	TOPMed
RCV000023978	p.Ser1028Ter	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32435795C>A	ClinVar
rs758957849	p.Asp1030Gly	missense variant	-	NC_000020.11:g.32435801A>G	ExAC,gnomAD
rs377541442	p.Asp1032Ala	missense variant	-	NC_000020.11:g.32435807A>C	ESP,TOPMed,gnomAD
rs192330235	p.Glu1033Val	missense variant	-	NC_000020.11:g.32435810A>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM256359	p.Lys1034Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32435812A>G	NCI-TCGA Cosmic
rs751952846	p.Lys1034Asn	missense variant	-	NC_000020.11:g.32435814A>T	ExAC,TOPMed,gnomAD
rs757758145	p.Asn1036Ser	missense variant	-	NC_000020.11:g.32435819A>G	ExAC,TOPMed,gnomAD
rs781544629	p.Asn1036Lys	missense variant	-	NC_000020.11:g.32435820T>A	ExAC,TOPMed,gnomAD
rs1555912419	p.Trp1037Ter	stop gained	-	NC_000020.11:g.32435823G>A	-
RCV000622812	p.Trp1037Ter	nonsense	Inborn genetic diseases	NC_000020.11:g.32435823G>A	ClinVar
rs1221031683	p.Gln1039Ter	stop gained	-	NC_000020.11:g.32435827C>T	gnomAD
rs769951435	p.Ala1041Val	missense variant	-	NC_000020.11:g.32435834C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala1041ProPheSerTerUnk	frameshift	-	NC_000020.11:g.32435833G>-	NCI-TCGA
rs1191559798	p.Ser1044Cys	missense variant	-	NC_000020.11:g.32435843C>G	gnomAD
rs780299749	p.Lys1045Arg	missense variant	-	NC_000020.11:g.32435846A>G	ExAC,gnomAD
rs749118360	p.Val1046Ala	missense variant	-	NC_000020.11:g.32435849T>C	ExAC,TOPMed,gnomAD
rs1417067472	p.Val1046Met	missense variant	-	NC_000020.11:g.32435848G>A	gnomAD
rs1361367953	p.Gly1048Ser	missense variant	-	NC_000020.11:g.32435854G>A	gnomAD
RCV000255751	p.Asp1049Ter	frameshift	-	NC_000020.11:g.32435856_32435857del	ClinVar
rs374141406	p.Met1050Thr	missense variant	-	NC_000020.11:g.32435861T>C	ESP,ExAC,TOPMed,gnomAD
rs370804022	p.Met1050Val	missense variant	-	NC_000020.11:g.32435860A>G	ESP,ExAC,TOPMed,gnomAD
rs768333722	p.Arg1051Cys	missense variant	-	NC_000020.11:g.32435863C>T	ExAC,TOPMed,gnomAD
rs771896604	p.Arg1051His	missense variant	-	NC_000020.11:g.32435864G>A	ExAC,TOPMed,gnomAD
rs768333722	p.Arg1051Ser	missense variant	-	NC_000020.11:g.32435863C>A	ExAC,TOPMed,gnomAD
rs772813587	p.Asp1057Glu	missense variant	-	NC_000020.11:g.32435883T>A	ExAC,gnomAD
rs760343023	p.Gly1058Arg	missense variant	-	NC_000020.11:g.32435884G>A	ExAC,gnomAD
rs138521991	p.Val1060Ile	missense variant	-	NC_000020.11:g.32435890G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776213974	p.Pro1062Ser	missense variant	-	NC_000020.11:g.32435896C>T	ExAC,gnomAD
rs1311033207	p.Gln1063Ter	stop gained	-	NC_000020.11:g.32435899C>T	gnomAD
rs1353911031	p.Trp1065Arg	missense variant	-	NC_000020.11:g.32435905T>C	TOPMed,gnomAD
COSM1565849	p.Trp1065Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32435907G>A	NCI-TCGA Cosmic
rs759039831	p.Ser1067Phe	missense variant	-	NC_000020.11:g.32435912C>T	ExAC,gnomAD
rs764651405	p.Arg1068Ter	stop gained	-	NC_000020.11:g.32435914C>T	ExAC,gnomAD
RCV000655943	p.Arg1068Ter	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32435914C>T	ClinVar
rs752058283	p.Arg1068Gln	missense variant	-	NC_000020.11:g.32435915G>A	ExAC,TOPMed,gnomAD
rs560992020	p.Val1069Ile	missense variant	-	NC_000020.11:g.32435917G>A	1000Genomes,ExAC
rs1222290644	p.Cys1070Tyr	missense variant	-	NC_000020.11:g.32435921G>A	gnomAD
rs768022784	p.Ala1071Thr	missense variant	-	NC_000020.11:g.32435923G>A	ExAC,gnomAD
rs531415735	p.Ala1071Val	missense variant	-	NC_000020.11:g.32435924C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000361222	p.Ala1071Val	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32435924C>T	ClinVar
rs779930291	p.Val1072Asp	missense variant	-	NC_000020.11:g.32435927T>A	ExAC
rs549552934	p.Arg1073Cys	missense variant	-	NC_000020.11:g.32435929C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs549552934	p.Arg1073Ser	missense variant	-	NC_000020.11:g.32435929C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1444168328	p.Arg1073Pro	missense variant	-	NC_000020.11:g.32435930G>C	TOPMed,gnomAD
COSM4397819	p.Arg1073Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32435930G>T	NCI-TCGA Cosmic
rs1444168328	p.Arg1073His	missense variant	-	NC_000020.11:g.32435930G>A	TOPMed,gnomAD
rs1161902700	p.Pro1077Ser	missense variant	-	NC_000020.11:g.32435941C>T	gnomAD
rs1416128377	p.Asp1078Tyr	missense variant	-	NC_000020.11:g.32435944G>T	gnomAD
rs778886643	p.Ser1079Pro	missense variant	-	NC_000020.11:g.32435947T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1083Ser	missense variant	-	NC_000020.11:g.32435959G>T	NCI-TCGA
rs1237208885	p.Pro1089Ser	missense variant	-	NC_000020.11:g.32435977C>T	TOPMed
rs1182142498	p.Pro1089Leu	missense variant	-	NC_000020.11:g.32435978C>T	TOPMed
COSM3799434	p.Arg1090Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32435981G>C	NCI-TCGA Cosmic
rs771806916	p.Val1092Met	missense variant	-	NC_000020.11:g.32435986G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1095Pro	missense variant	-	NC_000020.11:g.32435995T>C	NCI-TCGA
rs746598633	p.Ser1095Cys	missense variant	-	NC_000020.11:g.32435996C>G	ExAC,gnomAD
rs1305212991	p.Met1096Ile	missense variant	-	NC_000020.11:g.32436000G>T	TOPMed
rs770570065	p.Met1096Val	missense variant	-	NC_000020.11:g.32435998A>G	ExAC,TOPMed,gnomAD
rs1274527593	p.Pro1097Leu	missense variant	-	NC_000020.11:g.32436002C>T	TOPMed
COSM3423575	p.Ser1100Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32436011C>A	NCI-TCGA Cosmic
rs139115934	p.Glu1102Asp	missense variant	-	NC_000020.11:g.32436018G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1102LeuPheSerTerUnk	frameshift	-	NC_000020.11:g.32436015_32436016insCTTCA	NCI-TCGA
RCV000120108	p.Glu1102Asp	missense variant	-	NC_000020.11:g.32436018G>T	ClinVar
rs759066149	p.Thr1104Ser	missense variant	-	NC_000020.11:g.32436023C>G	ExAC,gnomAD
NCI-TCGA novel	p.Thr1104Ile	missense variant	-	NC_000020.11:g.32436023C>T	NCI-TCGA
rs952607481	p.Thr1104Ala	missense variant	-	NC_000020.11:g.32436022A>G	TOPMed,gnomAD
rs764696313	p.Asn1105Tyr	missense variant	-	NC_000020.11:g.32436025A>T	ExAC,gnomAD
rs1182034797	p.Val1108Met	missense variant	-	NC_000020.11:g.32436034G>A	gnomAD
rs1454365420	p.Val1108Ala	missense variant	-	NC_000020.11:g.32436035T>C	TOPMed
rs750818466	p.Met1109Ile	missense variant	-	NC_000020.11:g.32436039G>A	ExAC,gnomAD
rs767930961	p.Met1109Thr	missense variant	-	NC_000020.11:g.32436038T>C	ExAC
rs1239404668	p.Met1109Val	missense variant	-	NC_000020.11:g.32436037A>G	gnomAD
rs756612309	p.Gln1110Glu	missense variant	-	NC_000020.11:g.32436040C>G	ExAC
rs370068525	p.Leu1112Met	missense variant	-	NC_000020.11:g.32436046C>A	ESP,ExAC,gnomAD
rs1418007201	p.Ser1115Asn	missense variant	-	NC_000020.11:g.32436056G>A	gnomAD
COSM723121	p.Ser1115Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32436055A>G	NCI-TCGA Cosmic
rs1172005201	p.Pro1117Ser	missense variant	-	NC_000020.11:g.32436061C>T	gnomAD
COSM723120	p.Pro1117Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32436062C>T	NCI-TCGA Cosmic
rs1450882082	p.Glu1119Asp	missense variant	-	NC_000020.11:g.32436069G>C	gnomAD
rs778883995	p.Lys1120Met	missense variant	-	NC_000020.11:g.32436071A>T	ExAC,TOPMed,gnomAD
rs961492113	p.Val1121Ile	missense variant	-	NC_000020.11:g.32436073G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Val1121Leu	missense variant	-	NC_000020.11:g.32436073G>C	NCI-TCGA
rs11549643	p.Pro1123Leu	missense variant	-	NC_000020.11:g.32436080C>T	ExAC,TOPMed,gnomAD
rs777758375	p.Pro1124Leu	missense variant	-	NC_000020.11:g.32436083C>T	ExAC,gnomAD
rs758338148	p.Pro1124Ser	missense variant	-	NC_000020.11:g.32436082C>T	ExAC,gnomAD
rs1258611317	p.Ala1125Val	missense variant	-	NC_000020.11:g.32436086C>T	TOPMed,gnomAD
rs746797164	p.His1126Tyr	missense variant	-	NC_000020.11:g.32436088C>T	ExAC,gnomAD
rs565958361	p.Asp1127Glu	missense variant	-	NC_000020.11:g.32436093T>A	1000Genomes,ExAC,gnomAD
rs201009558	p.Asp1127Asn	missense variant	-	NC_000020.11:g.32436091G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1128Tyr	missense variant	-	NC_000020.11:g.32436094G>T	NCI-TCGA
rs774873057	p.Ser1131Pro	missense variant	-	NC_000020.11:g.32436103T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu1132Lys	missense variant	-	NC_000020.11:g.32436106G>A	NCI-TCGA
rs1244161898	p.Ser1133Phe	missense variant	-	NC_000020.11:g.32436110C>T	TOPMed
rs1479950391	p.Pro1134Ala	missense variant	-	NC_000020.11:g.32436112C>G	TOPMed
rs367744979	p.Pro1134Leu	missense variant	-	NC_000020.11:g.32436113C>T	ESP,ExAC,gnomAD
rs773913292	p.Gln1135Arg	missense variant	-	NC_000020.11:g.32436116A>G	ExAC,gnomAD
rs1429162146	p.Gln1135Glu	missense variant	-	NC_000020.11:g.32436115C>G	TOPMed,gnomAD
rs766691864	p.Val1136Leu	missense variant	-	NC_000020.11:g.32436118G>C	ExAC,gnomAD
rs766691864	p.Val1136Ile	missense variant	-	NC_000020.11:g.32436118G>A	ExAC,gnomAD
rs371545683	p.Thr1139Arg	missense variant	-	NC_000020.11:g.32436128C>G	ESP,ExAC,TOPMed,gnomAD
rs1414751361	p.Thr1139Ala	missense variant	-	NC_000020.11:g.32436127A>G	gnomAD
rs371545683	p.Thr1139Lys	missense variant	-	NC_000020.11:g.32436128C>A	ESP,ExAC,TOPMed,gnomAD
rs371545683	p.Thr1139Ile	missense variant	-	NC_000020.11:g.32436128C>T	ESP,ExAC,TOPMed,gnomAD
rs765294324	p.Asp1141Ala	missense variant	-	NC_000020.11:g.32436134A>C	ExAC,TOPMed,gnomAD
rs752770575	p.Ser1143Arg	missense variant	-	NC_000020.11:g.32436139A>C	ExAC,TOPMed,gnomAD
rs758535168	p.His1144Arg	missense variant	-	NC_000020.11:g.32436143A>G	ExAC,TOPMed,gnomAD
rs777670355	p.Gly1145Asp	missense variant	-	NC_000020.11:g.32436146G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly1145Cys	missense variant	-	NC_000020.11:g.32436145G>T	NCI-TCGA
rs757040754	p.Ser1146Leu	missense variant	-	NC_000020.11:g.32436149C>T	ExAC,gnomAD
rs555465153	p.Arg1148Leu	missense variant	-	NC_000020.11:g.32436155G>T	ExAC,TOPMed,gnomAD
rs555465153	p.Arg1148His	missense variant	-	NC_000020.11:g.32436155G>A	ExAC,TOPMed,gnomAD
rs139435094	p.Arg1148Cys	missense variant	-	NC_000020.11:g.32436154C>T	ESP,ExAC,TOPMed
RCV000120096	p.Arg1148Cys	missense variant	-	NC_000020.11:g.32436154C>T	ClinVar
rs1217380834	p.Met1149Val	missense variant	-	NC_000020.11:g.32436157A>G	TOPMed,gnomAD
rs370415624	p.Met1149Ile	missense variant	-	NC_000020.11:g.32436159G>T	ESP,ExAC,TOPMed,gnomAD
rs779916654	p.Met1149Thr	missense variant	-	NC_000020.11:g.32436158T>C	ExAC,gnomAD
rs1217380834	p.Met1149Leu	missense variant	-	NC_000020.11:g.32436157A>C	TOPMed,gnomAD
rs773823004	p.Gly1150Val	missense variant	-	NC_000020.11:g.32436161G>T	ExAC,TOPMed,gnomAD
rs773823004	p.Gly1150Glu	missense variant	-	NC_000020.11:g.32436161G>A	ExAC,TOPMed,gnomAD
rs374632491	p.Gly1150Arg	missense variant	-	NC_000020.11:g.32436160G>C	ESP,ExAC,TOPMed,gnomAD
rs1417772319	p.Leu1152Ser	missense variant	-	NC_000020.11:g.32436167T>C	TOPMed
rs761116566	p.His1153Arg	missense variant	-	NC_000020.11:g.32436170A>G	ExAC,TOPMed,gnomAD
rs199571804	p.Gly1154Arg	missense variant	-	NC_000020.11:g.32436172G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199571804	p.Gly1154Cys	missense variant	-	NC_000020.11:g.32436172G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1154Asp	missense variant	-	NC_000020.11:g.32436173G>A	NCI-TCGA
rs776864243	p.Leu1155Ile	missense variant	-	NC_000020.11:g.32436175C>A	ExAC,TOPMed,gnomAD
rs570096882	p.Lys1157Glu	missense variant	-	NC_000020.11:g.32436181A>G	1000Genomes,ExAC,gnomAD
rs752970560	p.Lys1157Arg	missense variant	-	NC_000020.11:g.32436182A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asn1158ThrPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.32436180A>-	NCI-TCGA
rs1350655725	p.Asn1158Lys	missense variant	-	NC_000020.11:g.32436186C>A	gnomAD
rs764192497	p.Met1161Thr	missense variant	-	NC_000020.11:g.32436194T>C	ExAC,gnomAD
rs1224195364	p.Met1161Ile	missense variant	-	NC_000020.11:g.32436195G>A	TOPMed
rs371131434	p.Asp1163Asn	missense variant	-	NC_000020.11:g.32436199G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs780969167	p.Asp1163Gly	missense variant	-	NC_000020.11:g.32436200A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1164Ter	stop gained	-	NC_000020.11:g.32436202G>T	NCI-TCGA
RCV000120097	p.Ser1166Arg	missense variant	-	NC_000020.11:g.32436210C>G	ClinVar
rs75887545	p.Ser1166Arg	missense variant	-	NC_000020.11:g.32436210C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1307576046	p.Pro1167Ala	missense variant	-	NC_000020.11:g.32436211C>G	TOPMed
rs587778062	p.Ser1168Thr	missense variant	-	NC_000020.11:g.32436215G>C	ExAC,TOPMed,gnomAD
rs1291218446	p.Ser1168Arg	missense variant	-	NC_000020.11:g.32436214A>C	gnomAD
RCV000315916	p.Ser1168Thr	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436215G>C	ClinVar
rs1212204313	p.Ser1169Tyr	missense variant	-	NC_000020.11:g.32436218C>A	gnomAD
rs748986962	p.Ala1172Thr	missense variant	-	NC_000020.11:g.32436226G>A	ExAC,gnomAD
rs768239600	p.Leu1173Ser	missense variant	-	NC_000020.11:g.32436230T>C	ExAC,gnomAD
rs747485168	p.Lys1174Asn	missense variant	-	NC_000020.11:g.32436234G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1175Lys	missense variant	-	NC_000020.11:g.32436235G>A	NCI-TCGA
rs1158866700	p.Leu1177Arg	missense variant	-	NC_000020.11:g.32436242T>G	gnomAD
rs746200411	p.Asp1180Gly	missense variant	-	NC_000020.11:g.32436251A>G	ExAC,gnomAD
rs777253679	p.Asp1180His	missense variant	-	NC_000020.11:g.32436250G>C	ExAC,TOPMed,gnomAD
rs777253679	p.Asp1180Asn	missense variant	-	NC_000020.11:g.32436250G>A	ExAC,TOPMed,gnomAD
rs148597247	p.Asp1180Glu	missense variant	-	NC_000020.11:g.32436252T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1160418769	p.Glu1183Ala	missense variant	-	NC_000020.11:g.32436260A>C	TOPMed
rs147905623	p.Thr1186Pro	missense variant	-	NC_000020.11:g.32436268A>C	ESP,TOPMed,gnomAD
COSM3840736	p.Thr1186Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32436269C>T	NCI-TCGA Cosmic
rs755170442	p.Gly1187Asp	missense variant	-	NC_000020.11:g.32436272G>A	ExAC,gnomAD
rs755170442	p.Gly1187Val	missense variant	-	NC_000020.11:g.32436272G>T	ExAC,gnomAD
rs774416906	p.Leu1188Ile	missense variant	-	NC_000020.11:g.32436274C>A	ExAC,TOPMed,gnomAD
rs779117478	p.Arg1190Lys	missense variant	-	NC_000020.11:g.32436281G>A	ExAC,gnomAD
rs767340580	p.Ile1191Phe	missense variant	-	NC_000020.11:g.32436283A>T	ExAC,gnomAD
rs767340580	p.Ile1191Val	missense variant	-	NC_000020.11:g.32436283A>G	ExAC,gnomAD
rs927802180	p.Glu1192Val	missense variant	-	NC_000020.11:g.32436287A>T	TOPMed
rs1266573048	p.Thr1194Ile	missense variant	-	NC_000020.11:g.32436293C>T	gnomAD
rs1339242781	p.Ala1196Thr	missense variant	-	NC_000020.11:g.32436298G>A	gnomAD
rs766307575	p.Ala1196Val	missense variant	-	NC_000020.11:g.32436299C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro1197Leu	missense variant	-	NC_000020.11:g.32436302C>T	NCI-TCGA
rs753491851	p.Pro1197Ser	missense variant	-	NC_000020.11:g.32436301C>T	ExAC,gnomAD
rs1178916301	p.Gly1198Arg	missense variant	-	NC_000020.11:g.32436304G>A	gnomAD
COSM443639	p.Gly1198Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32436305G>T	NCI-TCGA Cosmic
rs959073235	p.Ala1199Thr	missense variant	-	NC_000020.11:g.32436307G>A	TOPMed
rs1275445999	p.Ala1199Val	missense variant	-	NC_000020.11:g.32436308C>T	gnomAD
rs754682331	p.Pro1200Leu	missense variant	-	NC_000020.11:g.32436311C>T	ExAC,gnomAD
rs778774838	p.Gln1201Arg	missense variant	-	NC_000020.11:g.32436314A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1202Asn	missense variant	-	NC_000020.11:g.32436318G>T	NCI-TCGA
rs201397030	p.Cys1204Trp	missense variant	-	NC_000020.11:g.32436324C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1166225514	p.Cys1204Phe	missense variant	-	NC_000020.11:g.32436323G>T	gnomAD
RCV000352132	p.Cys1204Trp	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436324C>G	ClinVar
rs757978318	p.Ala1206Thr	missense variant	-	NC_000020.11:g.32436328G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val1207Ile	missense variant	-	NC_000020.11:g.32436331G>A	NCI-TCGA
rs746422436	p.Pro1208Leu	missense variant	-	NC_000020.11:g.32436335C>T	ExAC,TOPMed,gnomAD
COSM1025732	p.Ser1209Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32436338G>A	NCI-TCGA Cosmic
RCV000171346	p.Ser1212Phe	missense variant	-	NC_000020.11:g.32436347C>T	ClinVar
rs542568224	p.Ser1212Phe	missense variant	-	NC_000020.11:g.32436347C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000779755	p.Leu1213Ter	frameshift	C-like syndrome (BOPS)	NC_000020.11:g.32436349del	ClinVar
RCV000627531	p.Leu1213Ter	frameshift	-	NC_000020.11:g.32436345_32436348CTCC[1]	ClinVar
rs1225413009	p.His1214Gln	missense variant	-	NC_000020.11:g.32436354T>A	TOPMed
rs200817247	p.Val1216Leu	missense variant	-	NC_000020.11:g.32436358G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs774688930	p.Pro1219Ser	missense variant	-	NC_000020.11:g.32436367C>T	ExAC,gnomAD
rs761774988	p.Ile1220Phe	missense variant	-	NC_000020.11:g.32436370A>T	ExAC,TOPMed,gnomAD
rs545612479	p.Thr1221Lys	missense variant	-	NC_000020.11:g.32436374C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000120098	p.Thr1221Lys	missense variant	-	NC_000020.11:g.32436374C>A	ClinVar
rs760710389	p.Ser1222Ala	missense variant	-	NC_000020.11:g.32436376T>G	ExAC,gnomAD
rs1256319244	p.Ser1223Phe	missense variant	-	NC_000020.11:g.32436380C>T	TOPMed,gnomAD
rs543240313	p.Arg1224Thr	missense variant	-	NC_000020.11:g.32436383G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs753682901	p.Lys1225Asn	missense variant	-	NC_000020.11:g.32436387A>T	ExAC,TOPMed,gnomAD
rs564721149	p.Leu1226Arg	missense variant	-	NC_000020.11:g.32436389T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs564721149	p.Leu1226Gln	missense variant	-	NC_000020.11:g.32436389T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs752436984	p.Glu1227Lys	missense variant	-	NC_000020.11:g.32436391G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu1228Lys	missense variant	-	NC_000020.11:g.32436394G>A	NCI-TCGA
NCI-TCGA novel	p.Glu1228Gln	missense variant	-	NC_000020.11:g.32436394G>C	NCI-TCGA
COSM1025733	p.Glu1228Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32436394G>T	NCI-TCGA Cosmic
rs150977407	p.Asp1230His	missense variant	-	NC_000020.11:g.32436400G>C	ESP,ExAC,TOPMed,gnomAD
rs150977407	p.Asp1230Asn	missense variant	-	NC_000020.11:g.32436400G>A	ESP,ExAC,TOPMed,gnomAD
rs150977407	p.Asp1230Tyr	missense variant	-	NC_000020.11:g.32436400G>T	ESP,ExAC,TOPMed,gnomAD
rs74638057	p.Ser1231Phe	missense variant	-	NC_000020.11:g.32436404C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000295106	p.Ser1231Phe	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436404C>T	ClinVar
RCV000120099	p.Ser1231Phe	missense variant	-	NC_000020.11:g.32436404C>T	ClinVar
rs1303628314	p.Glu1233Gly	missense variant	-	NC_000020.11:g.32436410A>G	gnomAD
RCV000679929	p.Gln1234Ter	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32436412C>T	ClinVar
rs1280682119	p.Phe1235Val	missense variant	-	NC_000020.11:g.32436415T>G	gnomAD
rs780599775	p.Ser1236Ala	missense variant	-	NC_000020.11:g.32436418T>G	ExAC,TOPMed,gnomAD
rs749636650	p.Ser1237Phe	missense variant	-	NC_000020.11:g.32436422C>T	ExAC,TOPMed,gnomAD
rs1182744697	p.Ser1237Pro	missense variant	-	NC_000020.11:g.32436421T>C	TOPMed
rs769054940	p.Phe1238Cys	missense variant	-	NC_000020.11:g.32436425T>G	ExAC,gnomAD
rs778970085	p.Cys1240Arg	missense variant	-	NC_000020.11:g.32436430T>C	ExAC,gnomAD
rs372409311	p.Glu1241Lys	missense variant	-	NC_000020.11:g.32436433G>A	ESP,TOPMed,gnomAD
rs771995556	p.Lys1244Glu	missense variant	-	NC_000020.11:g.32436442A>G	ExAC,gnomAD
COSM1025734	p.Val1246Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32436449T>A	NCI-TCGA Cosmic
rs146747814	p.Arg1247Ser	missense variant	-	NC_000020.11:g.32436451C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146747814	p.Arg1247Cys	missense variant	-	NC_000020.11:g.32436451C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs760905906	p.Arg1247His	missense variant	-	NC_000020.11:g.32436452G>A	ExAC,TOPMed,gnomAD
rs146141075	p.Met1249Val	missense variant	-	NC_000020.11:g.32436457A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776760001	p.Met1249Thr	missense variant	-	NC_000020.11:g.32436458T>C	ExAC,gnomAD
RCV000345347	p.Met1249Val	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436457A>G	ClinVar
rs1177102722	p.Gln1251Arg	missense variant	-	NC_000020.11:g.32436464A>G	gnomAD
RCV000578410	p.Gln1251Ter	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32436466_32436470del	ClinVar
rs202102305	p.Asp1252Gly	missense variant	-	NC_000020.11:g.32436467A>G	ExAC,TOPMed,gnomAD
rs183833909	p.Asp1252Asn	missense variant	-	NC_000020.11:g.32436466G>A	1000Genomes,ExAC,gnomAD
rs4911231	p.Ser1253Arg	missense variant	-	NC_000020.11:g.32436471T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1299065255	p.Ser1253Gly	missense variant	-	NC_000020.11:g.32436469A>G	gnomAD
rs587778059	p.Asn1254Ser	missense variant	-	NC_000020.11:g.32436473A>G	ExAC,TOPMed,gnomAD
RCV000120094	p.Asn1254Ser	missense variant	-	NC_000020.11:g.32436473A>G	ClinVar
rs763441935	p.Asn1256Ile	missense variant	-	NC_000020.11:g.32436479A>T	ExAC
rs1274163222	p.Ala1257Val	missense variant	-	NC_000020.11:g.32436482C>T	TOPMed,gnomAD
rs1015611473	p.Ala1258Ser	missense variant	-	NC_000020.11:g.32436484G>T	TOPMed
rs971677757	p.Ala1258Val	missense variant	-	NC_000020.11:g.32436485C>T	gnomAD
rs201338763	p.Pro1259Leu	missense variant	-	NC_000020.11:g.32436488C>T	ExAC,TOPMed,gnomAD
RCV000310306	p.Pro1259Leu	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436488C>T	ClinVar
rs780513703	p.Lys1261Arg	missense variant	-	NC_000020.11:g.32436494A>G	ExAC,gnomAD
rs754382000	p.Ser1262Arg	missense variant	-	NC_000020.11:g.32436498C>G	ExAC,TOPMed
rs368407827	p.Gly1264Arg	missense variant	-	NC_000020.11:g.32436502G>A	ESP,ExAC,TOPMed,gnomAD
rs200527840	p.Asp1265Tyr	missense variant	-	NC_000020.11:g.32436505G>T	ESP,ExAC,TOPMed,gnomAD
rs772335046	p.Leu1266Val	missense variant	-	NC_000020.11:g.32436508C>G	ExAC,gnomAD
rs368889231	p.Thr1267Asn	missense variant	-	NC_000020.11:g.32436512C>A	ESP,ExAC,TOPMed,gnomAD
RCV000224799	p.Thr1267Asn	missense variant	-	NC_000020.11:g.32436512C>A	ClinVar
NCI-TCGA novel	p.Thr1268Ala	missense variant	-	NC_000020.11:g.32436514A>G	NCI-TCGA
rs747065583	p.Ser1269Leu	missense variant	-	NC_000020.11:g.32436518C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg1270Ile	missense variant	-	NC_000020.11:g.32436521G>T	NCI-TCGA
rs776674404	p.Arg1270Gly	missense variant	-	NC_000020.11:g.32436520A>G	ExAC,gnomAD
rs759571048	p.Thr1271Ala	missense variant	-	NC_000020.11:g.32436523A>G	ExAC,gnomAD
rs542860516	p.Pro1272Ala	missense variant	-	NC_000020.11:g.32436526C>G	ExAC,TOPMed,gnomAD
rs542860516	p.Pro1272Ser	missense variant	-	NC_000020.11:g.32436526C>T	ExAC,TOPMed,gnomAD
rs542860516	p.Pro1272Thr	missense variant	-	NC_000020.11:g.32436526C>A	ExAC,TOPMed,gnomAD
rs775363893	p.Pro1272His	missense variant	-	NC_000020.11:g.32436527C>A	ExAC,gnomAD
rs587778060	p.Arg1273Cys	missense variant	-	NC_000020.11:g.32436529C>T	TOPMed,gnomAD
rs762720533	p.Arg1273His	missense variant	-	NC_000020.11:g.32436530G>A	ExAC,TOPMed,gnomAD
RCV000120100	p.Arg1273Cys	missense variant	-	NC_000020.11:g.32436529C>T	ClinVar
NCI-TCGA novel	p.Ser1275Pro	missense variant	-	NC_000020.11:g.32436535T>C	NCI-TCGA
rs763784731	p.Ser1276Phe	missense variant	-	NC_000020.11:g.32436539C>T	ExAC,TOPMed,gnomAD
COSM3799438	p.Val1279Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32436547G>A	NCI-TCGA Cosmic
rs1327515633	p.Ile1280Thr	missense variant	-	NC_000020.11:g.32436551T>C	TOPMed
rs751259103	p.Gly1283Ser	missense variant	-	NC_000020.11:g.32436559G>A	ExAC,gnomAD
rs761279083	p.Pro1284Ala	missense variant	-	NC_000020.11:g.32436562C>G	ExAC,gnomAD
rs1227209031	p.Gln1286Arg	missense variant	-	NC_000020.11:g.32436569A>G	gnomAD
rs1396654725	p.Gly1288Asp	missense variant	-	NC_000020.11:g.32436575G>A	TOPMed
rs201302084	p.Arg1289Trp	missense variant	-	NC_000020.11:g.32436577C>T	ExAC,TOPMed,gnomAD
rs755522655	p.Arg1289Gln	missense variant	-	NC_000020.11:g.32436578G>A	ExAC,gnomAD
rs779080154	p.Ala1290Val	missense variant	-	NC_000020.11:g.32436581C>T	ExAC,TOPMed,gnomAD
rs1237413045	p.Gly1292Val	missense variant	-	NC_000020.11:g.32436587G>T	gnomAD
NCI-TCGA novel	p.Asp1293Asn	missense variant	-	NC_000020.11:g.32436589G>A	NCI-TCGA
rs1180789984	p.Ser1295Asn	missense variant	-	NC_000020.11:g.32436596G>A	gnomAD
rs753093028	p.Asn1296Lys	missense variant	-	NC_000020.11:g.32436600T>A	ExAC,gnomAD
rs140137262	p.Val1297Ile	missense variant	-	NC_000020.11:g.32436601G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000120110	p.Val1297Ile	missense variant	-	NC_000020.11:g.32436601G>A	ClinVar
rs778027986	p.Thr1298Ile	missense variant	-	NC_000020.11:g.32436605C>T	ExAC,gnomAD
rs1416591993	p.Gly1299Asp	missense variant	-	NC_000020.11:g.32436608G>A	gnomAD
RCV000414513	p.Gln1300Ter	frameshift	-	NC_000020.11:g.32436606_32436609dup	ClinVar
RCV000514197	p.Leu1304Val	missense variant	-	NC_000020.11:g.32436622C>G	ClinVar
rs747267907	p.Leu1304Val	missense variant	-	NC_000020.11:g.32436622C>G	ExAC,TOPMed,gnomAD
rs747267907	p.Leu1304Ile	missense variant	-	NC_000020.11:g.32436622C>A	ExAC,TOPMed,gnomAD
rs745736272	p.Phe1305Ser	missense variant	-	NC_000020.11:g.32436626T>C	ExAC,gnomAD
rs745736272	p.Phe1305Tyr	missense variant	-	NC_000020.11:g.32436626T>A	ExAC,gnomAD
NCI-TCGA novel	p.Phe1305LeuPheSerTerUnkUnkUnk	frameshift	-	NC_000020.11:g.32436623T>-	NCI-TCGA
RCV000364864	p.Phe1305Tyr	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436626T>A	ClinVar
rs769761920	p.Gly1306Val	missense variant	-	NC_000020.11:g.32436629G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1306GluPheSerTerUnk	stop gained	-	NC_000020.11:g.32436628_32436629insAAGGAGCCTCTTCTGCCAGATA	NCI-TCGA
rs769761920	p.Gly1306Asp	missense variant	-	NC_000020.11:g.32436629G>A	ExAC,TOPMed,gnomAD
rs1294298793	p.Gly1308Glu	missense variant	-	NC_000020.11:g.32436635G>A	TOPMed
RCV000397788	p.Ala1312Val	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436647C>T	ClinVar
rs148144203	p.Ala1312Val	missense variant	-	NC_000020.11:g.32436647C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM723115	p.Ala1312Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32436646G>T	NCI-TCGA Cosmic
rs376070210	p.Leu1314Phe	missense variant	-	NC_000020.11:g.32436652C>T	ESP,ExAC,TOPMed,gnomAD
rs369419785	p.Arg1316His	missense variant	-	NC_000020.11:g.32436659G>A	ESP,ExAC,TOPMed,gnomAD
rs369419785	p.Arg1316Leu	missense variant	-	NC_000020.11:g.32436659G>T	ESP,ExAC,TOPMed,gnomAD
rs773951405	p.Arg1316Cys	missense variant	-	NC_000020.11:g.32436658C>T	ExAC,gnomAD
rs373632896	p.Arg1318Trp	missense variant	-	NC_000020.11:g.32436664A>T	ESP,ExAC,TOPMed
rs760162421	p.Ala1320Val	missense variant	-	NC_000020.11:g.32436671C>T	ExAC,TOPMed,gnomAD
rs141930107	p.Pro1322Leu	missense variant	-	NC_000020.11:g.32436677C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141930107	p.Pro1322Arg	missense variant	-	NC_000020.11:g.32436677C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000301881	p.Pro1322Arg	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436677C>G	ClinVar
rs1399861829	p.Met1323Val	missense variant	-	NC_000020.11:g.32436679A>G	TOPMed
NCI-TCGA novel	p.Met1323Arg	missense variant	-	NC_000020.11:g.32436680T>G	NCI-TCGA
rs6057581	p.Leu1325Phe	missense variant	-	NC_000020.11:g.32436685C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000361233	p.Leu1325Phe	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436685C>T	ClinVar
rs757562094	p.Pro1326Arg	missense variant	-	NC_000020.11:g.32436689C>G	ExAC,gnomAD
rs757562094	p.Pro1326Leu	missense variant	-	NC_000020.11:g.32436689C>T	ExAC,gnomAD
rs1193631121	p.Ile1329Phe	missense variant	-	NC_000020.11:g.32436697A>T	gnomAD
rs201002256	p.Pro1330Leu	missense variant	-	NC_000020.11:g.32436701C>T	1000Genomes,ExAC
NCI-TCGA novel	p.Pro1330His	missense variant	-	NC_000020.11:g.32436701C>A	NCI-TCGA
rs1470476757	p.Pro1330Ser	missense variant	-	NC_000020.11:g.32436700C>T	TOPMed
NCI-TCGA novel	p.Pro1331Gln	missense variant	-	NC_000020.11:g.32436704C>A	NCI-TCGA
COSM4856226	p.Pro1331Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32436703C>T	NCI-TCGA Cosmic
rs1171765386	p.Pro1334Arg	missense variant	-	NC_000020.11:g.32436713C>G	gnomAD
COSM3545262	p.Pro1334Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32436713C>T	NCI-TCGA Cosmic
rs749211532	p.Ser1335Asn	missense variant	-	NC_000020.11:g.32436716G>A	ExAC,gnomAD
rs370510519	p.Gly1339Glu	missense variant	-	NC_000020.11:g.32436728G>A	ESP,ExAC,gnomAD
rs768446568	p.Gly1339Arg	missense variant	-	NC_000020.11:g.32436727G>A	ExAC,gnomAD
rs375493039	p.Pro1340Thr	missense variant	-	NC_000020.11:g.32436730C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1277513406	p.Pro1340Leu	missense variant	-	NC_000020.11:g.32436731C>T	gnomAD
rs772901230	p.Ser1341Asn	missense variant	-	NC_000020.11:g.32436734G>A	ExAC,gnomAD
rs771708439	p.Ser1341Arg	missense variant	-	NC_000020.11:g.32436733A>C	ExAC,gnomAD
NCI-TCGA novel	p.Asn1343Lys	missense variant	-	NC_000020.11:g.32436741C>G	NCI-TCGA
COSM3545264	p.Ser1344Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32436743C>T	NCI-TCGA Cosmic
rs377173817	p.Met1345Leu	missense variant	-	NC_000020.11:g.32436745A>T	ESP,ExAC,TOPMed,gnomAD
rs1217736138	p.Met1345Thr	missense variant	-	NC_000020.11:g.32436746T>C	gnomAD
rs1217736138	p.Met1345Arg	missense variant	-	NC_000020.11:g.32436746T>G	gnomAD
rs377173817	p.Met1345Val	missense variant	-	NC_000020.11:g.32436745A>G	ESP,ExAC,TOPMed,gnomAD
rs1282636106	p.Gly1347Ser	missense variant	-	NC_000020.11:g.32436751G>A	TOPMed
rs776017976	p.Gly1347Asp	missense variant	-	NC_000020.11:g.32436752G>A	ExAC,TOPMed,gnomAD
rs1215926778	p.Gly1348Glu	missense variant	-	NC_000020.11:g.32436755G>A	gnomAD
rs1235681276	p.Gly1348Arg	missense variant	-	NC_000020.11:g.32436754G>A	gnomAD
rs1261675179	p.Val1349Ile	missense variant	-	NC_000020.11:g.32436757G>A	gnomAD
rs764491073	p.Gln1350Arg	missense variant	-	NC_000020.11:g.32436761A>G	ExAC,TOPMed,gnomAD
rs763386297	p.Gln1350Ter	stop gained	-	NC_000020.11:g.32436760C>T	ExAC,gnomAD
rs1254556412	p.Gln1350His	missense variant	-	NC_000020.11:g.32436762G>T	gnomAD
rs957498028	p.Thr1351Ala	missense variant	-	NC_000020.11:g.32436763A>G	gnomAD
rs957498028	p.Thr1351Pro	missense variant	-	NC_000020.11:g.32436763A>C	gnomAD
rs1477232064	p.Pro1352Thr	missense variant	-	NC_000020.11:g.32436766C>A	gnomAD
RCV000779754	p.Glu1354Ter	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32436772G>T	ClinVar
rs897163423	p.Asp1355Tyr	missense variant	-	NC_000020.11:g.32436775G>T	TOPMed,gnomAD
rs751971997	p.Asp1355Gly	missense variant	-	NC_000020.11:g.32436776A>G	ExAC,gnomAD
rs897163423	p.Asp1355His	missense variant	-	NC_000020.11:g.32436775G>C	TOPMed,gnomAD
rs1221149032	p.Ala1357Val	missense variant	-	NC_000020.11:g.32436782C>T	TOPMed
rs1296966469	p.Ala1357Pro	missense variant	-	NC_000020.11:g.32436781G>C	gnomAD
rs1342576866	p.Pro1358Arg	missense variant	-	NC_000020.11:g.32436785C>G	gnomAD
rs554525759	p.Pro1358Ala	missense variant	-	NC_000020.11:g.32436784C>G	1000Genomes,ExAC,gnomAD
rs750648431	p.Pro1360Leu	missense variant	-	NC_000020.11:g.32436791C>T	ExAC,gnomAD
rs1318861266	p.Pro1360Ser	missense variant	-	NC_000020.11:g.32436790C>T	gnomAD
rs1276856584	p.His1361Leu	missense variant	-	NC_000020.11:g.32436794A>T	gnomAD
rs1276856584	p.His1361Arg	missense variant	-	NC_000020.11:g.32436794A>G	gnomAD
rs756177197	p.His1361Tyr	missense variant	-	NC_000020.11:g.32436793C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala1362Thr	missense variant	-	NC_000020.11:g.32436796G>A	NCI-TCGA
rs1348803364	p.Val1364Leu	missense variant	-	NC_000020.11:g.32436802G>C	TOPMed,gnomAD
rs1239527829	p.Gly1365Ser	missense variant	-	NC_000020.11:g.32436805G>A	gnomAD
rs1355933920	p.Ser1366Gly	missense variant	-	NC_000020.11:g.32436808A>G	gnomAD
rs1218050808	p.Ser1366Thr	missense variant	-	NC_000020.11:g.32436809G>C	TOPMed,gnomAD
rs147456014	p.Val1367Ile	missense variant	-	NC_000020.11:g.32436811G>A	ESP,ExAC,TOPMed,gnomAD
RCV000317182	p.Val1367Ile	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436811G>A	ClinVar
rs747916498	p.Lys1371Arg	missense variant	-	NC_000020.11:g.32436824A>G	ExAC,TOPMed,gnomAD
rs201989261	p.Thr1372Ser	missense variant	-	NC_000020.11:g.32436827C>G	1000Genomes,ExAC,gnomAD
rs1157660270	p.Thr1372Ala	missense variant	-	NC_000020.11:g.32436826A>G	gnomAD
rs777366376	p.Phe1373Ser	missense variant	-	NC_000020.11:g.32436830T>C	ExAC
rs1174240695	p.Val1374Met	missense variant	-	NC_000020.11:g.32436832G>A	TOPMed
rs191965193	p.Gly1375Trp	missense variant	-	NC_000020.11:g.32436835G>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gly1376ValPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.32436834G>-	NCI-TCGA
rs1384877310	p.Gly1376Cys	missense variant	-	NC_000020.11:g.32436838G>T	gnomAD
rs759156029	p.Gly1376Asp	missense variant	-	NC_000020.11:g.32436839G>A	ExAC,TOPMed,gnomAD
rs759156029	p.Gly1376Val	missense variant	-	NC_000020.11:g.32436839G>T	ExAC,TOPMed,gnomAD
rs1371456909	p.Pro1377Leu	missense variant	-	NC_000020.11:g.32436842C>T	TOPMed,gnomAD
RCV000622437	p.Pro1377Ter	frameshift	Inborn genetic diseases	NC_000020.11:g.32436839dup	ClinVar
rs139319958	p.Ala1380Gly	missense variant	-	NC_000020.11:g.32436851C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1195761913	p.Ala1382Thr	missense variant	-	NC_000020.11:g.32436856G>A	TOPMed
rs1288855568	p.Glu1383Asp	missense variant	-	NC_000020.11:g.32436861G>C	gnomAD
rs143770363	p.Glu1383Lys	missense variant	-	NC_000020.11:g.32436859G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs768021025	p.Asn1384Asp	missense variant	-	NC_000020.11:g.32436862A>G	ExAC,gnomAD
rs760817964	p.Arg1385Lys	missense variant	-	NC_000020.11:g.32436866G>A	ExAC,gnomAD
rs750607342	p.Arg1385Gly	missense variant	-	NC_000020.11:g.32436865A>G	ExAC,gnomAD
rs1457578532	p.Gly1389Glu	missense variant	-	NC_000020.11:g.32436878G>A	gnomAD
rs761239386	p.His1390Tyr	missense variant	-	NC_000020.11:g.32436880C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1391Cys	missense variant	-	NC_000020.11:g.32436883A>T	NCI-TCGA
rs778791558	p.Ser1391Arg	missense variant	-	NC_000020.11:g.32436885T>G	ExAC,gnomAD
rs368624471	p.Pro1392Ala	missense variant	-	NC_000020.11:g.32436886C>G	ESP,ExAC,TOPMed,gnomAD
rs368624471	p.Pro1392Ser	missense variant	-	NC_000020.11:g.32436886C>T	ESP,ExAC,TOPMed,gnomAD
COSM3545270	p.Pro1392Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32436887C>T	NCI-TCGA Cosmic
rs1456392521	p.Glu1394Val	missense variant	-	NC_000020.11:g.32436893A>T	gnomAD
rs150004862	p.Leu1395Val	missense variant	-	NC_000020.11:g.32436895C>G	ESP,ExAC,TOPMed,gnomAD
rs770488855	p.Val1396Leu	missense variant	-	NC_000020.11:g.32436898G>T	ExAC,TOPMed,gnomAD
rs745344384	p.Gly1397Asp	missense variant	-	NC_000020.11:g.32436902G>A	ExAC,TOPMed,gnomAD
rs146464648	p.Gly1397Ser	missense variant	-	NC_000020.11:g.32436901G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs745344384	p.Gly1397Ala	missense variant	-	NC_000020.11:g.32436902G>C	ExAC,TOPMed,gnomAD
RCV000353069	p.Gly1397Ser	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436901G>A	ClinVar
rs1392041036	p.His1398Arg	missense variant	-	NC_000020.11:g.32436905A>G	gnomAD
rs1381834100	p.His1398Asp	missense variant	-	NC_000020.11:g.32436904C>G	TOPMed
rs1454543776	p.Leu1399Phe	missense variant	-	NC_000020.11:g.32436909G>C	TOPMed
RCV000523176	p.Glu1400Ter	nonsense	-	NC_000020.11:g.32436910G>T	ClinVar
rs1555912930	p.Glu1400Ter	stop gained	-	NC_000020.11:g.32436910G>T	-
rs774955684	p.Gly1401Arg	missense variant	-	NC_000020.11:g.32436913G>A	ExAC,gnomAD
rs1247685297	p.Met1402Val	missense variant	-	NC_000020.11:g.32436916A>G	TOPMed,gnomAD
rs1247685297	p.Met1402Leu	missense variant	-	NC_000020.11:g.32436916A>T	TOPMed,gnomAD
rs772505693	p.Met1402Ile	missense variant	-	NC_000020.11:g.32436918G>A	ExAC,gnomAD
rs762429584	p.Met1402Lys	missense variant	-	NC_000020.11:g.32436917T>A	ExAC,gnomAD
rs148670852	p.Pro1403Ser	missense variant	-	NC_000020.11:g.32436919C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1255779893	p.Pro1403Leu	missense variant	-	NC_000020.11:g.32436920C>T	gnomAD
rs1481373919	p.Met1406Leu	missense variant	-	NC_000020.11:g.32436928A>C	TOPMed,gnomAD
rs1196015590	p.Leu1408Val	missense variant	-	NC_000020.11:g.32436934T>G	gnomAD
rs1189588116	p.Trp1411Ter	stop gained	-	NC_000020.11:g.32436945G>A	gnomAD
rs1418437557	p.Lys1412Ter	stop gained	-	NC_000020.11:g.32436946A>T	gnomAD
rs1418437557	p.Lys1412Glu	missense variant	-	NC_000020.11:g.32436946A>G	gnomAD
rs375106070	p.Pro1414Thr	missense variant	-	NC_000020.11:g.32436952C>A	ESP,ExAC,gnomAD
rs375106070	p.Pro1414Ser	missense variant	-	NC_000020.11:g.32436952C>T	ESP,ExAC,gnomAD
rs754129466	p.Arg1415Ter	stop gained	-	NC_000020.11:g.32436955C>T	ExAC,TOPMed,gnomAD
rs143328954	p.Arg1415Gln	missense variant	-	NC_000020.11:g.32436956G>A	ESP,gnomAD
RCV000623910	p.Arg1415Ter	nonsense	Inborn genetic diseases	NC_000020.11:g.32436955C>T	ClinVar
RCV000578978	p.Arg1415Ter	nonsense	-	NC_000020.11:g.32436955C>T	ClinVar
rs754129466	p.Arg1415Gly	missense variant	-	NC_000020.11:g.32436955C>G	ExAC,TOPMed,gnomAD
rs146759903	p.Glu1416Gly	missense variant	-	NC_000020.11:g.32436959A>G	ESP,ExAC,TOPMed,gnomAD
rs1302458782	p.Gly1418Trp	missense variant	-	NC_000020.11:g.32436964G>T	gnomAD
rs1400206227	p.Gly1418Glu	missense variant	-	NC_000020.11:g.32436965G>A	gnomAD
rs1182239186	p.Lys1419Arg	missense variant	-	NC_000020.11:g.32436968A>G	TOPMed
rs140396659	p.Gly1420Ala	missense variant	-	NC_000020.11:g.32436971G>C	ESP
COSM6159423	p.Leu1421Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32436973C>T	NCI-TCGA Cosmic
rs752574445	p.Ser1422Asn	missense variant	-	NC_000020.11:g.32436977G>A	ExAC,gnomAD
rs563685779	p.Pro1424Leu	missense variant	-	NC_000020.11:g.32436983C>T	1000Genomes,ExAC,gnomAD
rs1280568526	p.Leu1425Gln	missense variant	-	NC_000020.11:g.32436986T>A	gnomAD
rs1268535205	p.Leu1425Val	missense variant	-	NC_000020.11:g.32436985C>G	gnomAD
rs764162507	p.Pro1427Ser	missense variant	-	NC_000020.11:g.32436991C>T	ExAC,TOPMed,gnomAD
rs150925693	p.Ser1428Pro	missense variant	-	NC_000020.11:g.32436994T>C	ESP,ExAC,TOPMed,gnomAD
rs1212344694	p.Ser1429Phe	missense variant	-	NC_000020.11:g.32436998C>T	gnomAD
NCI-TCGA novel	p.Leu1430Ile	missense variant	-	NC_000020.11:g.32437000C>A	NCI-TCGA
rs755633691	p.Leu1434Phe	missense variant	-	NC_000020.11:g.32437012C>T	ExAC,gnomAD
rs779722479	p.Ile1436Val	missense variant	-	NC_000020.11:g.32437018A>G	ExAC,gnomAD
rs748596785	p.Ile1436Met	missense variant	-	NC_000020.11:g.32437020C>G	ExAC,TOPMed,gnomAD
rs779722479	p.Ile1436Phe	missense variant	-	NC_000020.11:g.32437018A>T	ExAC,gnomAD
RCV000598608	p.Gln1438Ter	nonsense	-	NC_000020.11:g.32437024C>T	ClinVar
rs1555912974	p.Gln1438Ter	stop gained	-	NC_000020.11:g.32437024C>T	-
COSM6159421	p.Gln1438His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32437026G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr1441MetPheSerTerUnk	frameshift	-	NC_000020.11:g.32437030T>-	NCI-TCGA
COSM1411100	p.Lys1443Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32437040A>G	NCI-TCGA Cosmic
rs1313492286	p.Lys1446Glu	missense variant	-	NC_000020.11:g.32437048A>G	gnomAD
rs772452614	p.Gln1448Arg	missense variant	-	NC_000020.11:g.32437055A>G	ExAC,TOPMed,gnomAD
rs1248006647	p.Ser1450Cys	missense variant	-	NC_000020.11:g.32437060A>T	TOPMed
rs369323188	p.Ser1453Thr	missense variant	-	NC_000020.11:g.32437070G>C	ESP,ExAC,gnomAD
rs1363144805	p.Ser1453Arg	missense variant	-	NC_000020.11:g.32437071C>G	gnomAD
rs1260140152	p.Phe1454Cys	missense variant	-	NC_000020.11:g.32437073T>G	TOPMed,gnomAD
rs1300193320	p.Asn1455Tyr	missense variant	-	NC_000020.11:g.32437075A>T	gnomAD
rs1297604770	p.Tyr1456His	missense variant	-	NC_000020.11:g.32437078T>C	TOPMed
rs1488502891	p.Ser1459Gly	missense variant	-	NC_000020.11:g.32437087A>G	gnomAD
rs776785621	p.Ser1459Asn	missense variant	-	NC_000020.11:g.32437088G>A	ExAC,gnomAD
rs759768826	p.Ser1460Phe	missense variant	-	NC_000020.11:g.32437091C>T	ExAC,gnomAD
rs1280491013	p.Ser1460Ala	missense variant	-	NC_000020.11:g.32437090T>G	gnomAD
rs765236014	p.Pro1461Leu	missense variant	-	NC_000020.11:g.32437094C>T	ExAC,TOPMed,gnomAD
rs1214409436	p.Pro1461Ala	missense variant	-	NC_000020.11:g.32437093C>G	TOPMed,gnomAD
rs1214409436	p.Pro1461Ser	missense variant	-	NC_000020.11:g.32437093C>T	TOPMed,gnomAD
rs1264766060	p.Thr1462Asn	missense variant	-	NC_000020.11:g.32437097C>A	gnomAD
rs1037113561	p.Gly1466Asp	missense variant	-	NC_000020.11:g.32437109G>A	TOPMed,gnomAD
rs763081912	p.Gly1466Ser	missense variant	-	NC_000020.11:g.32437108G>A	ExAC,TOPMed,gnomAD
COSM4097571	p.Leu1467Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32437111C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala1468Ser	missense variant	-	NC_000020.11:g.32437114G>T	NCI-TCGA
rs763919568	p.Ala1468Gly	missense variant	-	NC_000020.11:g.32437115C>G	ExAC
rs1426000456	p.Ser1470Asn	missense variant	-	NC_000020.11:g.32437121G>A	TOPMed
rs779516123	p.Val1471Met	missense variant	-	NC_000020.11:g.32437123G>A	-
rs756958250	p.Val1472Met	missense variant	-	NC_000020.11:g.32437126G>A	ExAC,gnomAD
rs767364451	p.Gln1473Arg	missense variant	-	NC_000020.11:g.32437130A>G	ExAC,gnomAD
RCV000424358	p.Leu1474Pro	missense variant	-	NC_000020.11:g.32437133T>C	ClinVar
rs1057522762	p.Leu1474Pro	missense variant	-	NC_000020.11:g.32437133T>C	-
rs1417907059	p.Asn1479Asp	missense variant	-	NC_000020.11:g.32437147A>G	gnomAD
rs1479344658	p.Phe1480Cys	missense variant	-	NC_000020.11:g.32437151T>G	TOPMed
rs755830073	p.Gly1481Ser	missense variant	-	NC_000020.11:g.32437153G>A	ExAC,gnomAD
rs1457731507	p.Gly1481Asp	missense variant	-	NC_000020.11:g.32437154G>A	gnomAD
rs779918659	p.Ala1482Val	missense variant	-	NC_000020.11:g.32437157C>T	ExAC,gnomAD
rs1292214111	p.Ala1482Thr	missense variant	-	NC_000020.11:g.32437156G>A	gnomAD
rs1237260890	p.Ser1485Gly	missense variant	-	NC_000020.11:g.32437165A>G	gnomAD
rs771144822	p.Leu1488Ile	missense variant	-	NC_000020.11:g.32437174C>A	ExAC,gnomAD
rs776986293	p.Ser1489Thr	missense variant	-	NC_000020.11:g.32437177T>A	ExAC,gnomAD
rs776986293	p.Ser1489Pro	missense variant	-	NC_000020.11:g.32437177T>C	ExAC,gnomAD
rs1205345035	p.Ser1489Cys	missense variant	-	NC_000020.11:g.32437178C>G	TOPMed
rs1237757749	p.Leu1490Ser	missense variant	-	NC_000020.11:g.32437181T>C	TOPMed,gnomAD
rs1194548712	p.Leu1490Met	missense variant	-	NC_000020.11:g.32437180T>A	gnomAD
rs140896392	p.Leu1490Phe	missense variant	-	NC_000020.11:g.32437182G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs985114051	p.Gln1491Arg	missense variant	-	NC_000020.11:g.32437184A>G	gnomAD
COSM1025740	p.Gln1491Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32437183C>T	NCI-TCGA Cosmic
rs1405352304	p.Met1492Thr	missense variant	-	NC_000020.11:g.32437187T>C	gnomAD
RCV000262828	p.Thr1498Met	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32437205C>T	ClinVar
rs150119795	p.Thr1498Met	missense variant	-	NC_000020.11:g.32437205C>T	ESP,ExAC,TOPMed,gnomAD
rs762915264	p.Thr1498Ala	missense variant	-	NC_000020.11:g.32437204A>G	ExAC,gnomAD
rs761827265	p.Val1499Met	missense variant	-	NC_000020.11:g.32437207G>A	ExAC,TOPMed,gnomAD
rs1410601864	p.Val1499Ala	missense variant	-	NC_000020.11:g.32437208T>C	TOPMed
rs1443938586	p.Glu1500Gln	missense variant	-	NC_000020.11:g.32437210G>C	gnomAD
NCI-TCGA novel	p.Ser1503Leu	missense variant	-	NC_000020.11:g.32437220C>T	NCI-TCGA
rs1301572138	p.Leu1504Phe	missense variant	-	NC_000020.11:g.32437222C>T	TOPMed
rs375101983	p.Ala1507Val	missense variant	-	NC_000020.11:g.32437232C>T	ESP,ExAC,TOPMed,gnomAD
rs753585837	p.Ser1509Asn	missense variant	-	NC_000020.11:g.32437238G>A	ExAC,TOPMed,gnomAD
rs778498255	p.Met1513Leu	missense variant	-	NC_000020.11:g.32437249A>T	ExAC,gnomAD
rs1479862599	p.Met1515Thr	missense variant	-	NC_000020.11:g.32437256T>C	TOPMed
rs142546929	p.Met1515Val	missense variant	-	NC_000020.11:g.32437255A>G	ESP,ExAC,TOPMed
rs1266285643	p.Cys1516Arg	missense variant	-	NC_000020.11:g.32437258T>C	TOPMed
rs781704918	p.Gln1517Pro	missense variant	-	NC_000020.11:g.32437262A>C	ExAC,gnomAD
rs781704918	p.Gln1517Arg	missense variant	-	NC_000020.11:g.32437262A>G	ExAC,gnomAD
rs146743741	p.Gly1520Ser	missense variant	-	NC_000020.11:g.32437270G>A	ESP,gnomAD
rs146743741	p.Gly1520Arg	missense variant	-	NC_000020.11:g.32437270G>C	ESP,gnomAD
NCI-TCGA novel	p.Cys1523Phe	missense variant	-	NC_000020.11:g.32437280G>T	NCI-TCGA
rs149678774	p.His1524Tyr	missense variant	-	NC_000020.11:g.32437282C>T	1000Genomes
rs139397200	p.Asp1525Asn	missense variant	-	NC_000020.11:g.32437285G>A	ESP,gnomAD
NCI-TCGA novel	p.Asp1526Asn	missense variant	-	NC_000020.11:g.32437288G>A	NCI-TCGA
rs768565271	p.Cys1527Ser	missense variant	-	NC_000020.11:g.32437292G>C	ExAC,gnomAD
rs774496581	p.Gly1529Val	missense variant	-	NC_000020.11:g.32437298G>T	ExAC,gnomAD
RCV000317983	p.Val1535Ile	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32437315G>A	ClinVar
rs886056603	p.Val1535Ile	missense variant	-	NC_000020.11:g.32437315G>A	TOPMed,gnomAD
rs1229055519	p.Leu1538Phe	missense variant	-	NC_000020.11:g.32437324C>T	TOPMed
rs1221897744	p.Arg1541Lys	missense variant	-	NC_000020.11:g.32437334G>A	gnomAD
COSM478004	p.Arg1541Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32437334G>C	NCI-TCGA Cosmic

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001815	Primary Myelofibrosis	disease	BEFREE
C0002894	Refractory anaemia with excess blasts	disease	BEFREE
C0003119	Anophthalmos	disease	BEFREE
C0003873	Rheumatoid Arthritis	disease	BEFREE
C0003886	Arthrogryposis	disease	GENOMICS_ENGLAND
C0005699	Blast Phase	disease	BEFREE
C0006826	Malignant Neoplasms	group	BEFREE
C0008073	Developmental Disabilities	group	BEFREE
C0008519	Ectopic Tissue	phenotype	HPO
C0008626	Congenital chromosomal disease	group	BEFREE
C0008924	Cleft upper lip	disease	HPO
C0010278	Craniosynostosis	disease	GENOMICS_ENGLAND
C0010828	Cytopenia	phenotype	GENOMICS_ENGLAND
C0010964	Dandy-Walker Syndrome	disease	HPO
C0013336	Dwarfism	disease	BEFREE
C0014544	Epilepsy	disease	HPO
C0015300	Exophthalmos	disease	HPO
C0015625	Fanconi Anemia	disease	BEFREE
C0015934	Fetal Growth Retardation	phenotype	HPO
C0017168	Gastroesophageal reflux disease	disease	HPO
C0018798	Congenital Heart Defects	group	HPO
C0018817	Atrial Septal Defects	group	HPO
C0018818	Ventricular Septal Defects	group	HPO
C0018834	Heartburn	phenotype	HPO
C0019572	Hirsutism	phenotype	HPO
C0019829	Hodgkin Disease	disease	BEFREE
C0020224	Polyhydramnios	phenotype	HPO
C0020534	Orbital separation excessive	phenotype	HPO
C0020555	Hypertrichosis	disease	CLINVAR
C0020796	Profound Mental Retardation	disease	HPO
C0021296	Infant, Small for Gestational Age	phenotype	HPO
C0023418	leukemia	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0023470	Myeloid Leukemia	disease	BEFREE
C0023473	Myeloid Leukemia, Chronic	disease	BEFREE;CGI
C0023480	Leukemia, Myelomonocytic, Chronic	disease	BEFREE
C0023481	Chronic Neutrophilic Leukemia	disease	BEFREE
C0023487	Acute Promyelocytic Leukemia	disease	BEFREE;CTD_human
C0023530	Leukopenia	disease	BEFREE
C0024305	Lymphoma, Non-Hodgkin	disease	BEFREE
C0024899	Mastocytosis	disease	BEFREE
C0025990	Micrognathism	disease	HPO
C0026499	Monosomy	group	BEFREE
C0026764	Multiple Myeloma	disease	BEFREE
C0026985	Myelodysplasia	disease	BEFREE
C0026987	Myelofibrosis	disease	BEFREE
C0027022	Myeloproliferative disease	group	BEFREE
C0027092	Myopia	disease	HPO
C0027643	Neoplasm Recurrence, Local	phenotype	CTD_human
C0027708	Nephroblastoma	disease	CTD_human
C0027947	Neutropenia	disease	BEFREE
C0029131	Abnormality of the optic nerve	phenotype	HPO
C0030286	Pancreatic Diseases	group	HPO
C0032461	Polycythemia	disease	BEFREE
C0032463	Polycythemia Vera	disease	BEFREE
C0035309	Retinal Diseases	group	HPO
C0036572	Seizures	phenotype	HPO
C0036857	Severe mental retardation (I.Q. 20-34)	disease	CLINVAR;HPO
C0038379	Strabismus	disease	HPO
C0039075	Syndactyly	disease	HPO
C0040028	Thrombocythemia, Essential	disease	BEFREE
C0040034	Thrombocytopenia	phenotype	BEFREE
C0042580	Vesico-Ureteral Reflux	disease	HPO
C0085669	Acute leukemia	disease	BEFREE
C0158995	Congenital anemia	disease	GENOMICS_ENGLAND
C0175754	Agenesis of corpus callosum	disease	HPO
C0220615	Adult Acute Myeloblastic Leukemia	disease	BEFREE
C0221013	Mastocytosis, Systemic	disease	BEFREE
C0221210	Congenital malrotation of intestine	disease	HPO
C0231246	Failure to gain weight	phenotype	HPO
C0231678	Ulnar deviation of the wrist	phenotype	HPO
C0231679	Ulnar deviation of the fingers	phenotype	HPO
C0232466	Feeding difficulties	phenotype	CLINVAR;HPO
C0235752	Port-Wine Stain	disease	HPO
C0235946	Cerebral atrophy	disease	HPO
C0239234	Low set ears	phenotype	HPO
C0240538	Convex nasal ridge	phenotype	HPO
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0242621	Isochromosomes	phenotype	BEFREE
C0264142	Spade-like hand	disease	HPO
C0265535	Trigonocephaly	disease	HPO
C0265563	Congenital dislocation of radial head	disease	HPO
C0266011	Accessory nipple	phenotype	HPO
C0280449	secondary acute myeloid leukemia	disease	BEFREE
C0280451	de novo myelodysplastic syndromes	disease	BEFREE
C0334579	Anaplastic astrocytoma	disease	BEFREE
C0344482	Hypoplasia of corpus callosum	disease	HPO
C0349639	Juvenile Myelomonocytic Leukemia	disease	BEFREE;CTD_human
C0376545	Hematologic Neoplasms	group	BEFREE
C0393593	Dystonia Disorders	group	BEFREE
C0409348	Flexion contracture of proximal interphalangeal joint	phenotype	HPO
C0410000	Overlap syndrome	disease	BEFREE
C0423109	Upward slant of palpebral fissure	phenotype	HPO
C0424605	Developmental delay (disorder)	disease	CLINVAR
C0424688	Small head	phenotype	HPO
C0426789	Short thorax	phenotype	HPO
C0426790	Narrow thorax	phenotype	HPO
C0426848	Sacral dimples	phenotype	HPO
C0426886	Tapering fingers (finding)	phenotype	HPO
C0431447	Synophrys	disease	HPO
C0431478	Posteriorly rotated ear	disease	HPO
C0432412	Chromosome 8, trisomy	disease	BEFREE
C0454644	Delayed speech and language development	phenotype	CLINVAR
C0497327	Dementia	disease	BEFREE
C0557874	Global developmental delay	disease	HPO
C0598766	Leukemogenesis	disease	BEFREE
C0677936	Refractory cancer	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0685409	Congenital Camptodactyly	disease	HPO
C0740992	anemia hemoglobin	disease	BEFREE
C0745091	Hypereosinophilia	disease	BEFREE
C0796232	Bohring syndrome	disease	BEFREE;CLINVAR;CTD_human;ORPHANET
C0920299	Overriding toe	phenotype	HPO
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1292772	Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	disease	BEFREE
C1292778	Chronic myeloproliferative disorder	disease	BEFREE
C1302790	Congenital malformation syndrome	group	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1318550	Refractory anemia with excess blasts I	disease	BEFREE
C1336735	Treatment related acute myeloid leukaemia	disease	BEFREE
C1386048	Intrauterine retardation	phenotype	HPO
C1398312	Narrow palate	phenotype	HPO
C1403299	Radiohumeral dislocation	phenotype	HPO
C1403321	Ulnohumeral dislocation	phenotype	HPO
C1827524	Wide spaced nipples	phenotype	HPO
C1836047	Long face	phenotype	HPO
C1836195	Short toe	phenotype	HPO
C1837260	Prominent forehead	phenotype	HPO
C1837658	Gross motor development delay	disease	CLINVAR
C1837760	Prominent eyes	phenotype	HPO
C1839758	Narrow forehead	phenotype	HPO
C1839764	Broad flat nasal bridge	phenotype	HPO
C1842366	Low anterior hairline	phenotype	HPO
C1842581	Abnormality of the corpus callosum	phenotype	CLINVAR
C1842688	Hypoplasia of the brainstem	phenotype	HPO
C1844704	Platyspondyly	phenotype	HPO
C1844947	Death in early childhood	phenotype	HPO
C1848490	Protruding eyes	phenotype	HPO
C1848850	Nevus flammeus of the forehead	phenotype	HPO
C1849367	Nasal bridge wide	phenotype	HPO
C1851971	Hypoplastic myelodysplasia	phenotype	HPO
C1854408	Glabellar hemangioma	disease	CLINVAR
C1854418	Biparietal narrowing	phenotype	HPO
C1857108	Limitation of joint mobility	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1857500	Broad alveolar ridges	phenotype	HPO
C1857539	Deep palmar crease	phenotype	HPO
C1857945	Hyperechogenic pancreas	phenotype	HPO
C1857949	Prominent metopic ridge	phenotype	CLINVAR;HPO
C1857953	Deep plantar creases	phenotype	HPO
C1858120	Generalized hypotonia	phenotype	HPO
C1858430	Death in infancy	phenotype	HPO
C1861443	Facial hemangioma	phenotype	HPO
C1861869	Underdeveloped supraorbital ridges	phenotype	HPO
C1862425	Prominent globes	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1866231	Full cheeks	phenotype	HPO
C1866239	Mesomelic/rhizomelic limb shortening	phenotype	HPO
C1867446	Bulging forehead	phenotype	HPO
C2315100	Pediatric failure to thrive	disease	HPO
C2713368	Hematopoetic Myelodysplasia	disease	CTD_human;MGD
C2720437	Dislocation of elbow joint	phenotype	HPO
C2748653	Chubby cheeks	phenotype	HPO
C2825139	Acute Myeloid Leukemia with Myelodysplasia-Related Changes	disease	BEFREE
C2826330	Refractory anemia with ring sideroblasts associated with marked thrombocytosis	disease	BEFREE
C2930471	Bilateral Wilms Tumor	disease	CTD_human
C2981150	Uranostaphyloschisis	disease	HPO
C3152182	Anterior chamber anomalies	phenotype	HPO
C3161330	Profound intellectual disabilities	disease	HPO
C3280030	GATA2 Deficiency	disease	BEFREE
C3463824	MYELODYSPLASTIC SYNDROME	group	BEFREE;CGI;CTD_human;HPO
C3494422	Retrognathia	phenotype	HPO
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C3806443	Puffy cheeks	phenotype	HPO
C3839868	Cytogenetically normal acute myeloid leukemia	disease	BEFREE
C3887524	Skin Erosion	disease	BEFREE
C3900098	Adult Myelodysplastic Syndrome	disease	BEFREE
C4020777	Underdeveloped brows	phenotype	HPO
C4020875	Mental and motor retardation	phenotype	CLINVAR;HPO
C4021814	Accessory oral frenulum	phenotype	HPO
C4023374	Delayed peripheral myelination	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4025751	Abnormality of the pancreas	phenotype	HPO
C4049796	Abnormality of cardiovascular system morphology	disease	HPO
C4073184	Thick hair	phenotype	HPO
C4280532	Decreased width of the skull	phenotype	HPO
C4280647	Hypertrophy of cheeks	phenotype	HPO
C4280648	Hyperplasia of cheeks	phenotype	HPO
C4280665	Wedge shaped head	disease	HPO
C4280666	Triangular head shape	disease	HPO
C4280675	Broad alveolar processes of jaw	phenotype	HPO
C4317146	Acid reflux	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO
C4531021	Undergrowth	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003677	DNA binding	IEA
GO:0003682	chromatin binding	IBA
GO:0003713	transcription coactivator activity	ISS
GO:0005515	protein binding	IPI
GO:0042974	retinoic acid receptor binding	ISS
GO:0042975	peroxisome proliferator activated receptor binding	ISS
GO:0042975	peroxisome proliferator activated receptor binding	IBA
GO:0046872	metal ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000902	cell morphogenesis	IEA
GO:0003007	heart morphogenesis	IEA
GO:0006351	transcription, DNA-templated	IEA
GO:0009887	animal organ morphogenesis	IBA
GO:0010888	negative regulation of lipid storage	IEA
GO:0016579	protein deubiquitination	TAS
GO:0030097	hemopoiesis	IEA
GO:0032526	response to retinoic acid	ISS
GO:0035359	negative regulation of peroxisome proliferator activated receptor signaling pathway	ISS
GO:0035522	monoubiquitinated histone H2A deubiquitination	IDA
GO:0035564	regulation of kidney size	IEA
GO:0045599	negative regulation of fat cell differentiation	ISS
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA
GO:0048386	positive regulation of retinoic acid receptor signaling pathway	ISS
GO:0048538	thymus development	IEA
GO:0048539	bone marrow development	IEA
GO:0048872	homeostasis of number of cells	IEA
GO:0060430	lung saccule development	IEA
GO:0072015	glomerular visceral epithelial cell development	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005654	nucleoplasm	TAS
GO:0035517	PR-DUB complex	IDA
GO:0035517	PR-DUB complex	IBA
GO:0000790	nuclear chromatin	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-392499	Metabolism of proteins	TAS
R-HSA-5688426	Deubiquitination	TAS
R-HSA-5689603	UCH proteinases	TAS
R-HSA-597592	Post-translational protein modification	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C495626	14-deoxy-11,12-didehydroandrographolide	14-deoxy-11,12-didehydroandrographolide results in decreased expression of ASXL1 mRNA	22101062
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in increased expression of ASXL1 mRNA	28973690
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ASXL1 mRNA	27188386
C517041	(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) results in decreased expression of ASXL1 mRNA	19561079
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of ASXL1 mRNA	19150397; 20018196;
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in increased expression of ASXL1 mRNA	20382639
C496492	abrine	abrine results in increased expression of ASXL1 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of ASXL1 mRNA	21420995
D000082	Acetaminophen	Acetaminophen results in increased expression of ASXL1 mRNA	22230336
D000082	Acetaminophen	Acetaminophen affects the expression of ASXL1 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of ASXL1 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of ASXL1 mRNA	19770486
D000952	Antigens, Polyomavirus Transforming	Antigens, Polyomavirus Transforming results in increased expression of ASXL1 mRNA	26680231
C015001	arsenite	arsenite results in increased methylation of ASXL1 promoter	23974009
D001554	Benzene	Benzene results in increased expression of ASXL1 mRNA	19162166
C044887	beta-methylcholine	beta-methylcholine affects the expression of ASXL1 mRNA	21179406
C006780	bisphenol A	bisphenol A affects the expression of ASXL1 mRNA	30248606
C006780	bisphenol A	bisphenol A affects the expression of ASXL1 mRNA	25181051
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of ASXL1 gene	20938992
C018021	cobaltous chloride	cobaltous chloride results in increased expression of ASXL1 mRNA	24386269
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of ASXL1 mRNA	19549813
D003703	Demecolcine	Demecolcine results in increased expression of ASXL1 mRNA	23649840
C014476	diethyl maleate	diethyl maleate results in decreased expression of ASXL1 mRNA	25270620
C516138	dorsomorphin	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ASXL1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in increased expression of ASXL1 mRNA	29803840
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of ASXL1 gene	20938992
D005557	Formaldehyde	Formaldehyde results in increased expression of ASXL1 mRNA	23649840
D005947	Glucose	[INS protein co-treated with Glucose] results in increased expression of ASXL1 mRNA	22634610
C492448	ICG 001	ICG 001 results in increased expression of ASXL1 mRNA	26191083
D048628	Ketolides	Ketolides analog results in increased expression of ASXL1 mRNA	24967691
D008694	Methamphetamine	Methamphetamine results in decreased expression of ASXL1 mRNA	29802913
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of ASXL1 gene	20938992
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of ASXL1 mRNA	23179753; 26272509; 28001369;
C004925	methylmercuric chloride	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ASXL1 mRNA	27188386
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of ASXL1 mRNA	23649840
C000622638	MLN7243	MLN7243 results in increased sumoylation of ASXL1 protein	31285264
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of ASXL1 mRNA	25554681
C025589	ochratoxin A	ochratoxin A results in decreased acetylation of ASXL1 promoter	29098329
C025589	ochratoxin A	[ochratoxin A results in decreased acetylation of ASXL1 promoter] which results in decreased expression of ASXL1 mRNA	29098329; 29098329;
C025589	ochratoxin A	ochratoxin A results in decreased expression of ASXL1 mRNA	29098329
C507134	ON 01910	ON 01910 results in increased expression of ASXL1 mRNA	22351695
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in decreased expression of ASXL1 mRNA	25729387
C045950	propiconazole	propiconazole results in decreased expression of ASXL1 mRNA	21278054
C570774	qinghuang	ASXL1 gene mutant form affects the susceptibility to qinghuang	29619748
D012402	Rotenone	Rotenone results in increased expression of ASXL1 mRNA	19013527
D012643	Selenium	Selenium results in decreased expression of ASXL1 mRNA	19244175
C017947	sodium arsenite	sodium arsenite results in increased expression of ASXL1 mRNA	28595984
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in decreased expression of ASXL1 mRNA	15336504
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in decreased expression of ASXL1 mRNA	25729387
D019772	Topotecan	Topotecan results in decreased expression of ASXL1 mRNA	25729387
C012589	trichostatin A	trichostatin A results in increased expression of ASXL1 mRNA	24935251
C015559	trimellitic anhydride	trimellitic anhydride results in increased expression of ASXL1 mRNA	19042947
D000077288	Troglitazone	Troglitazone results in decreased expression of ASXL1 mRNA	28973697
D014414	Tungsten	Tungsten results in decreased expression of ASXL1 mRNA	30912803
D014635	Valproic Acid	Valproic Acid affects the expression of ASXL1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of ASXL1 mRNA	22083351; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased expression of ASXL1 mRNA	23179753; 25192806; 28001369;
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of ASXL1 gene	25487561
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of ASXL1 gene	25560391
D014750	Vincristine	Vincristine results in increased expression of ASXL1 mRNA	23649840
D014810	Vitamin E	Vitamin E results in decreased expression of ASXL1 mRNA	19244175

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0156	Chromatin regulator
KW-0989	Craniosynostosis
KW-0479	Metal-binding
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0678	Repressor
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0832	Ubl conjugation
KW-0833	Ubl conjugation pathway
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR026905	ASX-like_PHD
IPR024811	ASX/ASX-like
IPR028020	ASXH
IPR024815	ASXL1
IPR007759	HB1/Asxl_HTH

PROSITE

PROSITE ID	PROSITE Term
PS51916	DEUBAD
PS51913	HTH_HARE

Pfam

Pfam ID	Pfam Term
PF13919	ASXH
PF05066	HARE-HTH
PF13922	PHD_3

Gene: ASXL1

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

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