CleftGeneDB-Search

Gene: ADGRA2

Basic information

Tag	Content
Uniprot ID	Q96PE1; A6H8W3; D3DSW4; Q8N3R1; Q8TEM3; Q96KB2; Q9P1Z7; Q9UFY4;
Entrez ID	25960
Genbank protein ID	CAD38629.1; BAA96055.2; EAW63355.1; BAB55022.1; AAI46775.1; AAO27354.1; AAL11992.1; EAW63356.1; BAB84925.2; CAB53694.1;
Genbank nucleotide ID	NM_032777.9
Ensembl protein ID	ENSP00000406367; ENSP00000323508;
Ensembl nucleotide ID	ENSG00000020181
Gene name	Adhesion G protein-coupled receptor A2
Gene symbol	ADGRA2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Endothelial receptor which functions together with RECK to enable brain endothelial cells to selectively respond to Wnt7 signals (WNT7A or WNT7B) (PubMed:28289266, PubMed:30026314). Plays a key role in Wnt7-specific responses, such as endothelial cell sprouting and migration in the forebrain and neural tube, and establishment of the blood-brain barrier (By similarity). Acts as a Wnt7-specific coactivator of canonical Wnt signaling: required to deliver RECK-bound Wnt7 to frizzled by assembling a higher-order RECK-ADGRA2-Fzd-LRP5-LRP6 complex (PubMed:30026314). ADGRA2-tethering function does not rely on its G-protein coupled receptor (GPCR) structure but instead on its combined capacity to interact with RECK extracellularly and recruit the Dishevelled scaffolding protein intracellularly (PubMed:30026314). Binds to the glycosaminoglycans heparin, heparin sulfate, chondroitin sulfate and dermatan sulfate (PubMed:16982628).
Sequence	MGAGGRRMRG APARLLLPLL PWLLLLLAPE ARGAPGCPLS IRSCKCSGER PKGLSGGVPG 60 PARRRVVCSG GDLPEPPEPG LLPNGTVTLL LSNNKITGLR NGSFLGLSLL EKLDLRNNII 120 STVQPGAFLG LGELKRLDLS NNRIGCLTSE TFQGLPRLLR LNISGNIFSS LQPGVFDELP 180 ALKVVDLGTE FLTCDCHLRW LLPWAQNRSL QLSEHTLCAY PSALHAQALG SLQEAQLCCE 240 GALELHTHHL IPSLRQVVFQ GDRLPFQCSA SYLGNDTRIR WYHNRAPVEG DEQAGILLAE 300 SLIHDCTFIT SELTLSHIGV WASGEWECTV SMAQGNASKK VEIVVLETSA SYCPAERVAN 360 NRGDFRWPRT LAGITAYQSC LQYPFTSVPL GGGAPGTRAS RRCDRAGRWE PGDYSHCLYT 420 NDITRVLYTF VLMPINASNA LTLAHQLRVY TAEAASFSDM MDVVYVAQMI QKFLGYVDQI 480 KELVEVMVDM ASNLMLVDEH LLWLAQREDK ACSRIVGALE RIGGAALSPH AQHISVNARN 540 VALEAYLIKP HSYVGLTCTA FQRREGGVPG TRPGSPGQNP PPEPEPPADQ QLRFRCTTGR 600 PNVSLSSFHI KNSVALASIQ LPPSLFSSLP AALAPPVPPD CTLQLLVFRN GRLFHSHSNT 660 SRPGAAGPGK RRGVATPVIF AGTSGCGVGN LTEPVAVSLR HWAEGAEPVA AWWSQEGPGE 720 AGGWTSEGCQ LRSSQPNVSA LHCQHLGNVA VLMELSAFPR EVGGAGAGLH PVVYPCTALL 780 LLCLFATIIT YILNHSSIRV SRKGWHMLLN LCFHIAMTSA VFAGGITLTN YQMVCQAVGI 840 TLHYSSLSTL LWMGVKARVL HKELTWRAPP PQEGDPALPT PSPMLRFYLI AGGIPLIICG 900 ITAAVNIHNY RDHSPYCWLV WRPSLGAFYI PVALILLITW IYFLCAGLRL RGPLAQNPKA 960 GNSRASLEAG EELRGSTRLR GSGPLLSDSG SLLATGSARV GTPGPPEDGD SLYSPGVQLG 1020 ALVTTHFLYL AMWACGALAV SQRWLPRVVC SCLYGVAASA LGLFVFTHHC ARRRDVRASW 1080 RACCPPASPA APHAPPRALP AAAEDGSPVF GEGPPSLKSS PSGSSGHPLA LGPCKLTNLQ 1140 LAQSQVCEAG AAAGGEGEPE PAGTRGNLAH RHPNNVHHGR RAHKSRAKGH RAGEACGKNR 1200 LKALRGGAAG ALELLSSESG SLHNSPTDSY LGSSRNSPGA GLQLEGEPML TPSEGSDTSA 1260 APLSEAGRAG QRRSASRDSL KGGGALEKES HRRSYPLNAA SLNGAPKGGK YDDVTLMGAE 1320 VASGGCMKTG LWKSETTV 1338

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	ADGRA2	102178880	A0A452EYM7		Capra hircus	Prediction	More>>
1:1 ortholog	ADGRA2	25960	Q96PE1		Homo sapiens	Prediction	More>>
1:1 ortholog	Adgra2	78560	Q91ZV8	CPO	Mus musculus	Publication	More>>
1:1 ortholog	ADGRA2	472739	H2QW10		Pan troglodytes	Prediction	More>>
1:1 ortholog	Adgra2		D4ADC7		Rattus norvegicus	Prediction	More>>
1:1 ortholog	adgra2		F1Q989		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1459255335	p.Gly5Arg	missense variant	-	NC_000008.11:g.37797281G>A	TOPMed
rs939199876	p.Arg6Gly	missense variant	-	NC_000008.11:g.37797284C>G	TOPMed
rs1478717952	p.Met8Thr	missense variant	-	NC_000008.11:g.37797291T>C	TOPMed,gnomAD
rs1185636978	p.Arg9Leu	missense variant	-	NC_000008.11:g.37797294G>T	TOPMed
rs775830837	p.Gly10Glu	missense variant	-	NC_000008.11:g.37797297G>A	ExAC,gnomAD
rs527368208	p.Ala13Thr	missense variant	-	NC_000008.11:g.37797305G>A	1000Genomes,TOPMed,gnomAD
rs527368208	p.Ala13Pro	missense variant	-	NC_000008.11:g.37797305G>C	1000Genomes,TOPMed,gnomAD
rs946346051	p.Arg14His	missense variant	-	NC_000008.11:g.37797309G>A	TOPMed,gnomAD
rs1249738751	p.Leu17Met	missense variant	-	NC_000008.11:g.37797317C>A	gnomAD
rs1327787471	p.Leu27Pro	missense variant	-	NC_000008.11:g.37797348T>C	TOPMed,gnomAD
rs911359669	p.Pro29Ser	missense variant	-	NC_000008.11:g.37797353C>T	TOPMed,gnomAD
VAR_072079	p.Pro29Leu	Missense	-	-	UniProt
rs941608819	p.Arg32Trp	missense variant	-	NC_000008.11:g.37797362C>T	TOPMed
rs1176916512	p.Ala34Ser	missense variant	-	NC_000008.11:g.37797368G>T	TOPMed,gnomAD
rs1393261853	p.Pro35Ser	missense variant	-	NC_000008.11:g.37797371C>T	TOPMed
rs999219064	p.Cys37Phe	missense variant	-	NC_000008.11:g.37797378G>T	TOPMed,gnomAD
rs1390931936	p.Pro38Ala	missense variant	-	NC_000008.11:g.37797380C>G	TOPMed
rs761725244	p.Pro38Gln	missense variant	-	NC_000008.11:g.37797381C>A	ExAC,TOPMed
rs761725244	p.Pro38Arg	missense variant	-	NC_000008.11:g.37797381C>G	ExAC,TOPMed
rs1447666140	p.Ser40Thr	missense variant	-	NC_000008.11:g.37797386T>A	TOPMed
rs73592885	p.Ile41Val	missense variant	-	NC_000008.11:g.37797389A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs901319182	p.Arg42Cys	missense variant	-	NC_000008.11:g.37797392C>T	TOPMed
rs1163209714	p.Ser43Arg	missense variant	-	NC_000008.11:g.37797397C>G	gnomAD
rs1452016576	p.Lys45Thr	missense variant	-	NC_000008.11:g.37797402A>C	TOPMed
rs1220892512	p.Gly48Arg	missense variant	-	NC_000008.11:g.37797410G>A	gnomAD
rs1358268612	p.Glu49Lys	missense variant	-	NC_000008.11:g.37797413G>A	TOPMed
rs1274841318	p.Glu49Gly	missense variant	-	NC_000008.11:g.37797414A>G	TOPMed
rs1396494691	p.Arg50Trp	missense variant	-	NC_000008.11:g.37797416C>T	gnomAD
rs1310870863	p.Lys52Gln	missense variant	-	NC_000008.11:g.37797422A>C	gnomAD
rs1339392078	p.Lys52Thr	missense variant	-	NC_000008.11:g.37797423A>C	TOPMed
rs759018572	p.Gly53Ala	missense variant	-	NC_000008.11:g.37797426G>C	ExAC,gnomAD
rs1267691873	p.Ser55Arg	missense variant	-	NC_000008.11:g.37797433C>G	gnomAD
rs1310158711	p.Val58Ile	missense variant	-	NC_000008.11:g.37797440G>A	gnomAD
rs767208463	p.Gly60Arg	missense variant	-	NC_000008.11:g.37797446G>C	ExAC,TOPMed,gnomAD
rs767208463	p.Gly60Ser	missense variant	-	NC_000008.11:g.37797446G>A	ExAC,TOPMed,gnomAD
rs1209310819	p.Pro61Arg	missense variant	-	NC_000008.11:g.37797450C>G	gnomAD
rs984404171	p.Arg63Trp	missense variant	-	NC_000008.11:g.37797455C>T	TOPMed
rs752283010	p.Arg64Trp	missense variant	-	NC_000008.11:g.37797458C>T	ExAC,TOPMed,gnomAD
rs752283010	p.Arg64Gly	missense variant	-	NC_000008.11:g.37797458C>G	ExAC,TOPMed,gnomAD
rs1046135986	p.Arg65Lys	missense variant	-	NC_000008.11:g.37797462G>A	gnomAD
rs1479646294	p.Val66Met	missense variant	-	NC_000008.11:g.37797464G>A	gnomAD
rs764375957	p.Val66Gly	missense variant	-	NC_000008.11:g.37797465T>G	ExAC,gnomAD
rs1238670130	p.Val67Met	missense variant	-	NC_000008.11:g.37797467G>A	TOPMed,gnomAD
rs1238670130	p.Val67Leu	missense variant	-	NC_000008.11:g.37797467G>T	TOPMed,gnomAD
rs754178240	p.Ser69Cys	missense variant	-	NC_000008.11:g.37797473A>T	ExAC,gnomAD
rs1182999312	p.Gly70Asp	missense variant	-	NC_000008.11:g.37797477G>A	gnomAD
rs779528063	p.Gly71Ala	missense variant	-	NC_000008.11:g.37797480G>C	ExAC,gnomAD
rs757868520	p.Gly71Arg	missense variant	-	NC_000008.11:g.37797479G>A	ExAC,TOPMed,gnomAD
rs757868520	p.Gly71Trp	missense variant	-	NC_000008.11:g.37797479G>T	ExAC,TOPMed,gnomAD
rs1265584760	p.Asp72Tyr	missense variant	-	NC_000008.11:g.37797482G>T	TOPMed,gnomAD
rs1372841410	p.Asp72Gly	missense variant	-	NC_000008.11:g.37797483A>G	TOPMed,gnomAD
rs1265584760	p.Asp72Asn	missense variant	-	NC_000008.11:g.37797482G>A	TOPMed,gnomAD
rs1333981674	p.Pro74Arg	missense variant	-	NC_000008.11:g.37797489C>G	TOPMed,gnomAD
rs1333981674	p.Pro74Leu	missense variant	-	NC_000008.11:g.37797489C>T	TOPMed,gnomAD
rs780390532	p.Pro76Thr	missense variant	-	NC_000008.11:g.37797494C>A	ExAC,TOPMed,gnomAD
rs747200083	p.Pro76Leu	missense variant	-	NC_000008.11:g.37797495C>T	ExAC,TOPMed,gnomAD
rs780390532	p.Pro76Ala	missense variant	-	NC_000008.11:g.37797494C>G	ExAC,TOPMed,gnomAD
rs747200083	p.Pro76Arg	missense variant	-	NC_000008.11:g.37797495C>G	ExAC,TOPMed,gnomAD
rs768865629	p.Glu78Lys	missense variant	-	NC_000008.11:g.37797500G>A	ExAC,TOPMed,gnomAD
rs749045165	p.Pro79Leu	missense variant	-	NC_000008.11:g.37797504C>T	ExAC,TOPMed,gnomAD
rs774253377	p.Leu82Met	missense variant	-	NC_000008.11:g.37797512C>A	ExAC,gnomAD
rs1223317949	p.Asn84Asp	missense variant	-	NC_000008.11:g.37797518A>G	TOPMed
rs1258646229	p.Gly85Ser	missense variant	-	NC_000008.11:g.37797521G>A	gnomAD
rs767013969	p.Val87Ala	missense variant	-	NC_000008.11:g.37797528T>C	ExAC,gnomAD
rs775003566	p.Thr88Asn	missense variant	-	NC_000008.11:g.37797531C>A	ExAC,gnomAD
rs939164442	p.Leu89Pro	missense variant	-	NC_000008.11:g.37797534T>C	TOPMed
rs762333404	p.Ser92Asn	missense variant	-	NC_000008.11:g.37814904G>A	ExAC,gnomAD
rs765700679	p.Ser92Arg	missense variant	-	NC_000008.11:g.37814905C>A	ExAC,gnomAD
rs1390396369	p.Asn93Asp	missense variant	-	NC_000008.11:g.37814906A>G	TOPMed
rs763577512	p.Thr97Arg	missense variant	-	NC_000008.11:g.37814919C>G	ExAC,TOPMed,gnomAD
rs763577512	p.Thr97Met	missense variant	-	NC_000008.11:g.37814919C>T	ExAC,TOPMed,gnomAD
rs1217624250	p.Gly98Glu	missense variant	-	NC_000008.11:g.37814922G>A	TOPMed,gnomAD
rs755065757	p.Arg100Leu	missense variant	-	NC_000008.11:g.37814928G>T	ExAC,TOPMed,gnomAD
rs755065757	p.Arg100Pro	missense variant	-	NC_000008.11:g.37814928G>C	ExAC,TOPMed,gnomAD
rs267601911	p.Arg100Cys	missense variant	-	NC_000008.11:g.37814927C>T	ExAC,gnomAD
rs755065757	p.Arg100His	missense variant	-	NC_000008.11:g.37814928G>A	ExAC,TOPMed,gnomAD
rs755065757	p.Arg100His	missense variant	-	NC_000008.11:g.37814928G>A	NCI-TCGA
rs752915472	p.Asn101Ser	missense variant	-	NC_000008.11:g.37814931A>G	ExAC,gnomAD
rs1487221783	p.Gly102Ser	missense variant	-	NC_000008.11:g.37814933G>A	gnomAD
rs145306239	p.Gly106Val	missense variant	-	NC_000008.11:g.37814946G>T	ESP,TOPMed
rs745618253	p.Leu109Gln	missense variant	-	NC_000008.11:g.37814955T>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu110Val	missense variant	-	NC_000008.11:g.37814957C>G	NCI-TCGA
rs943801193	p.Glu111Gln	missense variant	-	NC_000008.11:g.37814960G>C	TOPMed
NCI-TCGA novel	p.Glu111Asp	missense variant	-	NC_000008.11:g.37814962G>C	NCI-TCGA
COSM5080728	p.Lys112AsnPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.37814965G>-	NCI-TCGA Cosmic
rs1248969210	p.Leu113Pro	missense variant	-	NC_000008.11:g.37814967T>C	gnomAD
rs1332121502	p.Asp114His	missense variant	-	NC_000008.11:g.37828889G>C	gnomAD
rs768420135	p.Asp114Gly	missense variant	-	NC_000008.11:g.37828890A>G	ExAC,gnomAD
COSM3834637	p.Asp114Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37828891C>G	NCI-TCGA Cosmic
rs1466215650	p.Arg116Thr	missense variant	-	NC_000008.11:g.37828896G>C	TOPMed
rs769611097	p.Asn117Lys	missense variant	-	NC_000008.11:g.37828900C>G	ExAC,gnomAD
rs769611097	p.Asn117Lys	missense variant	-	NC_000008.11:g.37828900C>A	ExAC,gnomAD
NCI-TCGA novel	p.Asn118Ser	missense variant	-	NC_000008.11:g.37828902A>G	NCI-TCGA
rs1256725891	p.Thr122Ala	missense variant	-	NC_000008.11:g.37828913A>G	gnomAD
rs941542928	p.Gln124His	missense variant	-	NC_000008.11:g.37828921G>T	TOPMed,gnomAD
rs567572116	p.Pro125Leu	missense variant	-	NC_000008.11:g.37828923C>T	1000Genomes,ExAC,gnomAD
rs567572116	p.Pro125Leu	missense variant	-	NC_000008.11:g.37828923C>T	NCI-TCGA,NCI-TCGA Cosmic
rs567572116	p.Pro125Arg	missense variant	-	NC_000008.11:g.37828923C>G	1000Genomes,ExAC,gnomAD
rs754053108	p.Ala127Thr	missense variant	-	NC_000008.11:g.37828928G>A	ExAC,TOPMed,gnomAD
rs754053108	p.Ala127Thr	missense variant	-	NC_000008.11:g.37828928G>A	NCI-TCGA
NCI-TCGA novel	p.Leu131Arg	missense variant	-	NC_000008.11:g.37828941T>G	NCI-TCGA
rs370700069	p.Gly132Glu	missense variant	-	NC_000008.11:g.37828944G>A	ESP,ExAC,TOPMed,gnomAD
rs1168187548	p.Gly132Arg	missense variant	-	NC_000008.11:g.37828943G>A	gnomAD
NCI-TCGA novel	p.Glu133SerPheSerTerUnk	frameshift	-	NC_000008.11:g.37828942G>-	NCI-TCGA
NCI-TCGA novel	p.Glu133Gly	missense variant	-	NC_000008.11:g.37828947A>G	NCI-TCGA
rs751263844	p.Glu133Lys	missense variant	-	NC_000008.11:g.37828946G>A	ExAC,gnomAD
rs1394320517	p.Arg136Cys	missense variant	-	NC_000008.11:g.37828955C>T	gnomAD
rs754974135	p.Arg136His	missense variant	-	NC_000008.11:g.37828956G>A	ExAC,TOPMed,gnomAD
rs769059050	p.Asp138Glu	missense variant	-	NC_000008.11:g.37829264T>G	ExAC,TOPMed,gnomAD
rs1293298126	p.Asp138Asn	missense variant	-	NC_000008.11:g.37829262G>A	gnomAD
rs769059050	p.Asp138Glu	missense variant	-	NC_000008.11:g.37829264T>A	ExAC,TOPMed,gnomAD
rs1389006718	p.Leu139Arg	missense variant	-	NC_000008.11:g.37829266T>G	gnomAD
rs769862036	p.Arg143Trp	missense variant	-	NC_000008.11:g.37829277C>T	ExAC,TOPMed,gnomAD
rs372307581	p.Arg143Gln	missense variant	-	NC_000008.11:g.37829278G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile144Thr	missense variant	-	NC_000008.11:g.37829281T>C	NCI-TCGA
rs767556131	p.Cys146Tyr	missense variant	-	NC_000008.11:g.37829287G>A	ExAC,gnomAD
rs886803631	p.Thr148Ile	missense variant	-	NC_000008.11:g.37829293C>T	TOPMed
rs1210391964	p.Glu150Ala	missense variant	-	NC_000008.11:g.37829299A>C	TOPMed,gnomAD
rs1210391964	p.Glu150Gly	missense variant	-	NC_000008.11:g.37829299A>G	TOPMed,gnomAD
rs150153046	p.Glu150Lys	missense variant	-	NC_000008.11:g.37829298G>A	ESP,ExAC,TOPMed,gnomAD
rs1237445763	p.Thr151Ile	missense variant	-	NC_000008.11:g.37829302C>T	gnomAD
rs1176787615	p.Gly154Asp	missense variant	-	NC_000008.11:g.37829311G>A	gnomAD
rs1354144227	p.Gly154Ser	missense variant	-	NC_000008.11:g.37829310G>A	TOPMed
rs1335119235	p.Arg157Gly	missense variant	-	NC_000008.11:g.37829319A>G	TOPMed
rs763831575	p.Arg157Lys	missense variant	-	NC_000008.11:g.37829320G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg157GlyPheSerTerUnk	frameshift	-	NC_000008.11:g.37829315C>-	NCI-TCGA
rs763831575	p.Arg157Thr	missense variant	-	NC_000008.11:g.37829320G>C	ExAC,gnomAD
rs756876565	p.Arg160Ter	stop gained	-	NC_000008.11:g.37829328C>T	ExAC,TOPMed,gnomAD
rs145560238	p.Arg160Gln	missense variant	-	NC_000008.11:g.37829329G>A	ESP,ExAC,TOPMed,gnomAD
rs1486773554	p.Asn162Asp	missense variant	-	NC_000008.11:g.37829489A>G	gnomAD
NCI-TCGA novel	p.Ser164Cys	missense variant	-	NC_000008.11:g.37829496C>G	NCI-TCGA
COSM1099466	p.Ser164Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37829496C>A	NCI-TCGA Cosmic
rs1262885491	p.Gly165Arg	missense variant	-	NC_000008.11:g.37829498G>A	gnomAD
rs756557477	p.Ile167Ser	missense variant	-	NC_000008.11:g.37829505T>G	ExAC,TOPMed,gnomAD
rs756557477	p.Ile167Thr	missense variant	-	NC_000008.11:g.37829505T>C	ExAC,TOPMed,gnomAD
rs749558260	p.Leu171Met	missense variant	-	NC_000008.11:g.37829516C>A	ExAC,TOPMed,gnomAD
rs140419408	p.Leu171Pro	missense variant	-	NC_000008.11:g.37829517T>C	1000Genomes,gnomAD
rs140419408	p.Leu171Arg	missense variant	-	NC_000008.11:g.37829517T>G	1000Genomes,gnomAD
rs1342814452	p.Gln172His	missense variant	-	NC_000008.11:g.37829521A>T	TOPMed
rs374564456	p.Pro173His	missense variant	-	NC_000008.11:g.37829523C>A	ESP,gnomAD
rs1430612172	p.Gly174Arg	missense variant	-	NC_000008.11:g.37829525G>A	TOPMed
rs774589867	p.Val175Leu	missense variant	-	NC_000008.11:g.37829528G>C	ExAC,gnomAD
rs774589867	p.Val175Ile	missense variant	-	NC_000008.11:g.37829528G>A	ExAC,gnomAD
rs1351013741	p.Glu178Gly	missense variant	-	NC_000008.11:g.37829538A>G	TOPMed
NCI-TCGA novel	p.Leu179Met	missense variant	-	NC_000008.11:g.37829540C>A	NCI-TCGA
rs1270710612	p.Ala181Val	missense variant	-	NC_000008.11:g.37829547C>T	gnomAD
rs1166284153	p.Lys183Glu	missense variant	-	NC_000008.11:g.37829552A>G	TOPMed
rs1308808876	p.Asp186Gly	missense variant	-	NC_000008.11:g.37829853A>G	gnomAD
rs1225896263	p.Leu187Phe	missense variant	-	NC_000008.11:g.37829857G>T	gnomAD
rs1285369824	p.Gly188Ser	missense variant	-	NC_000008.11:g.37829858G>A	TOPMed,gnomAD
rs1285369824	p.Gly188Cys	missense variant	-	NC_000008.11:g.37829858G>T	TOPMed,gnomAD
rs1220041784	p.Glu190Lys	missense variant	-	NC_000008.11:g.37829864G>A	TOPMed,gnomAD
rs1255384706	p.Glu190Asp	missense variant	-	NC_000008.11:g.37829866G>C	gnomAD
rs372198196	p.Phe191Cys	missense variant	-	NC_000008.11:g.37829868T>G	ESP,TOPMed
rs1468547145	p.Phe191Ile	missense variant	-	NC_000008.11:g.37829867T>A	gnomAD
COSM4926773	p.Asp195Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37829880A>G	NCI-TCGA Cosmic
rs1258102609	p.His197Arg	missense variant	-	NC_000008.11:g.37829886A>G	TOPMed
rs773004412	p.Arg199His	missense variant	-	NC_000008.11:g.37829892G>A	ExAC,gnomAD
rs374752785	p.Arg199Gly	missense variant	-	NC_000008.11:g.37829891C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg199Pro	missense variant	-	NC_000008.11:g.37829892G>C	NCI-TCGA
rs773004412	p.Arg199His	missense variant	-	NC_000008.11:g.37829892G>A	NCI-TCGA
rs374752785	p.Arg199Cys	missense variant	-	NC_000008.11:g.37829891C>T	ESP,ExAC,TOPMed,gnomAD
rs374752785	p.Arg199Cys	missense variant	-	NC_000008.11:g.37829891C>T	NCI-TCGA,NCI-TCGA Cosmic
rs762524605	p.Trp200Ter	stop gained	-	NC_000008.11:g.37829896G>A	ExAC,gnomAD
rs766009635	p.Arg208Leu	missense variant	-	NC_000008.11:g.37829919G>T	ExAC,TOPMed,gnomAD
rs998006888	p.Arg208Cys	missense variant	-	NC_000008.11:g.37829918C>T	TOPMed,gnomAD
rs766009635	p.Arg208His	missense variant	-	NC_000008.11:g.37829919G>A	ExAC,TOPMed,gnomAD
rs1330752404	p.Leu210Arg	missense variant	-	NC_000008.11:g.37829925T>G	gnomAD
rs774046876	p.Gln211Ter	stop gained	-	NC_000008.11:g.37829927C>T	ExAC,gnomAD
rs767090988	p.Ser213Leu	missense variant	-	NC_000008.11:g.37829934C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu214Lys	missense variant	-	NC_000008.11:g.37829936G>A	NCI-TCGA
rs893301070	p.His215Asp	missense variant	-	NC_000008.11:g.37829939C>G	TOPMed
rs764491127	p.Thr216Met	missense variant	-	NC_000008.11:g.37829943C>T	ExAC,gnomAD
rs1197523428	p.Leu217Phe	missense variant	-	NC_000008.11:g.37829945C>T	TOPMed,gnomAD
rs368184891	p.Ala219Val	missense variant	-	NC_000008.11:g.37829952C>T	ESP,ExAC,TOPMed,gnomAD
rs368184891	p.Ala219Gly	missense variant	-	NC_000008.11:g.37829952C>G	ESP,ExAC,TOPMed,gnomAD
rs1020511159	p.Ala223Asp	missense variant	-	NC_000008.11:g.37829964C>A	TOPMed
rs967643548	p.Gln227Ter	stop gained	-	NC_000008.11:g.37829975C>T	TOPMed,gnomAD
rs1471690899	p.Ala228Thr	missense variant	-	NC_000008.11:g.37829978G>A	TOPMed,gnomAD
rs1471690899	p.Ala228Thr	missense variant	-	NC_000008.11:g.37829978G>A	NCI-TCGA Cosmic
rs769727910	p.Glu234Asp	missense variant	-	NC_000008.11:g.37829998G>T	ExAC,TOPMed,gnomAD
rs1329802522	p.Glu240Lys	missense variant	-	NC_000008.11:g.37830014G>A	gnomAD
rs778786668	p.Gly241Arg	missense variant	-	NC_000008.11:g.37830712G>A	ExAC,TOPMed,gnomAD
rs1447498947	p.Gly241Glu	missense variant	-	NC_000008.11:g.37830713G>A	gnomAD
rs1452614012	p.Glu244Lys	missense variant	-	NC_000008.11:g.37830721G>A	gnomAD
rs764972507	p.Glu244Asp	missense variant	-	NC_000008.11:g.37830723G>T	gnomAD
rs1419554438	p.His246Arg	missense variant	-	NC_000008.11:g.37830728A>G	gnomAD
rs1463286370	p.Thr247Lys	missense variant	-	NC_000008.11:g.37830731C>A	TOPMed
rs1287473615	p.Leu250Phe	missense variant	-	NC_000008.11:g.37830739C>T	gnomAD
rs1352520666	p.Ile251Asn	missense variant	-	NC_000008.11:g.37830743T>A	TOPMed
rs771754787	p.Pro252Gln	missense variant	-	NC_000008.11:g.37830746C>A	ExAC,gnomAD
rs771754787	p.Pro252Leu	missense variant	-	NC_000008.11:g.37830746C>T	ExAC,gnomAD
rs868319164	p.Pro252Ser	missense variant	-	NC_000008.11:g.37830745C>T	-
rs1368181111	p.Ser253Ala	missense variant	-	NC_000008.11:g.37830748T>G	gnomAD
rs1237759441	p.Arg255His	missense variant	-	NC_000008.11:g.37830755G>A	TOPMed,gnomAD
rs144591273	p.Arg255Cys	missense variant	-	NC_000008.11:g.37830754C>T	ESP,ExAC,TOPMed,gnomAD
rs1417978177	p.Val257Ala	missense variant	-	NC_000008.11:g.37830761T>C	gnomAD
rs768325271	p.Gln260Ter	stop gained	-	NC_000008.11:g.37830769C>T	ExAC,gnomAD
rs1209198950	p.Gly261Glu	missense variant	-	NC_000008.11:g.37830773G>A	gnomAD
rs1003384005	p.Gly261Arg	missense variant	-	NC_000008.11:g.37830772G>A	TOPMed,gnomAD
rs777238816	p.Asp262His	missense variant	-	NC_000008.11:g.37830775G>C	ExAC,gnomAD
rs139041191	p.Arg263Gly	missense variant	-	NC_000008.11:g.37830778C>G	ESP,TOPMed,gnomAD
rs139041191	p.Arg263Trp	missense variant	-	NC_000008.11:g.37830778C>T	ESP,TOPMed,gnomAD
rs141569533	p.Arg263Gln	missense variant	-	NC_000008.11:g.37830779G>A	ESP,ExAC,TOPMed,gnomAD
rs765639554	p.Pro265Ala	missense variant	-	NC_000008.11:g.37830784C>G	ExAC,gnomAD
rs1249948791	p.Ser269Pro	missense variant	-	NC_000008.11:g.37830796T>C	TOPMed
rs1365947422	p.Ala270Val	missense variant	-	NC_000008.11:g.37830800C>T	gnomAD
rs1454591005	p.Ser271Asn	missense variant	-	NC_000008.11:g.37830803G>A	gnomAD
rs1163208436	p.Gly274Ser	missense variant	-	NC_000008.11:g.37830811G>A	gnomAD
rs199973228	p.Asp276Asn	missense variant	-	NC_000008.11:g.37830817G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1389289699	p.Thr277Ile	missense variant	-	NC_000008.11:g.37830821C>T	gnomAD
rs535547181	p.Arg278His	missense variant	-	NC_000008.11:g.37830824G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs767612829	p.Arg278Cys	missense variant	-	NC_000008.11:g.37830823C>T	ExAC,gnomAD
rs199751275	p.Arg280His	missense variant	-	NC_000008.11:g.37830830G>A	ESP,ExAC,TOPMed,gnomAD
rs150879838	p.Arg280Cys	missense variant	-	NC_000008.11:g.37830829C>T	ESP,TOPMed,gnomAD
rs778501939	p.Trp281Ter	stop gained	-	NC_000008.11:g.37830833G>A	ExAC,gnomAD
rs367554198	p.His283Gln	missense variant	-	NC_000008.11:g.37830840C>A	ESP,ExAC,TOPMed,gnomAD
rs1175727730	p.Asn284Thr	missense variant	-	NC_000008.11:g.37830842A>C	TOPMed,gnomAD
rs1175727730	p.Asn284Ser	missense variant	-	NC_000008.11:g.37830842A>G	TOPMed,gnomAD
rs371864107	p.Arg285Ter	stop gained	-	NC_000008.11:g.37830844C>T	ESP,ExAC,TOPMed,gnomAD
rs1420050120	p.Arg285Gln	missense variant	-	NC_000008.11:g.37830845G>A	gnomAD
rs1187271703	p.Ala286Val	missense variant	-	NC_000008.11:g.37830848C>T	gnomAD
rs1416410274	p.Pro287His	missense variant	-	NC_000008.11:g.37830851C>A	gnomAD
NCI-TCGA novel	p.Pro287Leu	missense variant	-	NC_000008.11:g.37830851C>T	NCI-TCGA
rs1398957679	p.Gly290Val	missense variant	-	NC_000008.11:g.37830860G>T	TOPMed,gnomAD
rs1398957679	p.Gly290Asp	missense variant	-	NC_000008.11:g.37830860G>A	TOPMed,gnomAD
rs768235152	p.Gly290Ser	missense variant	-	NC_000008.11:g.37830859G>A	ExAC,gnomAD
rs748600527	p.Asp291Gly	missense variant	-	NC_000008.11:g.37830863A>G	ExAC,gnomAD
rs776295279	p.Asp291Asn	missense variant	-	NC_000008.11:g.37830862G>A	ExAC,gnomAD
rs989427803	p.Glu292Lys	missense variant	-	NC_000008.11:g.37830865G>A	TOPMed,gnomAD
rs1046858116	p.Gln293Arg	missense variant	-	NC_000008.11:g.37830869A>G	gnomAD
rs770329796	p.Ala294Thr	missense variant	-	NC_000008.11:g.37830871G>A	ExAC,gnomAD
rs201617128	p.Ala294Gly	missense variant	-	NC_000008.11:g.37830872C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs201617128	p.Ala294Val	missense variant	-	NC_000008.11:g.37830872C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs774514376	p.Leu297Phe	missense variant	-	NC_000008.11:g.37830880C>T	ExAC,gnomAD
rs767523114	p.Ala299Thr	missense variant	-	NC_000008.11:g.37830886G>A	ExAC,gnomAD
rs767523114	p.Ala299Ser	missense variant	-	NC_000008.11:g.37830886G>T	ExAC,gnomAD
rs777378349	p.Glu300Lys	missense variant	-	NC_000008.11:g.37830889G>A	gnomAD
rs914891204	p.Glu300Asp	missense variant	-	NC_000008.11:g.37830891G>C	TOPMed,gnomAD
rs756247860	p.Ser301Asn	missense variant	-	NC_000008.11:g.37830893G>A	ExAC,TOPMed
rs756247860	p.Ser301Thr	missense variant	-	NC_000008.11:g.37830893G>C	ExAC,TOPMed
rs375320170	p.Ile303Val	missense variant	-	NC_000008.11:g.37830898A>G	ESP,TOPMed,gnomAD
rs1171888150	p.Asp305Asn	missense variant	-	NC_000008.11:g.37830904G>A	gnomAD
NCI-TCGA novel	p.Cys306Ter	stop gained	-	NC_000008.11:g.37830909C>A	NCI-TCGA
rs944163982	p.Thr307Ser	missense variant	-	NC_000008.11:g.37830911C>G	TOPMed
rs77606955	p.Thr307Ser	missense variant	-	NC_000008.11:g.37830910A>T	1000Genomes,TOPMed
rs750369843	p.Ile309Val	missense variant	-	NC_000008.11:g.37830916A>G	ExAC,gnomAD
rs1465206733	p.Ser311Ile	missense variant	-	NC_000008.11:g.37830923G>T	gnomAD
rs978463872	p.Glu312Lys	missense variant	-	NC_000008.11:g.37831424G>A	TOPMed,gnomAD
rs1254553469	p.Leu313Met	missense variant	-	NC_000008.11:g.37831427C>A	gnomAD
rs755608252	p.Thr314Lys	missense variant	-	NC_000008.11:g.37831431C>A	ExAC,TOPMed,gnomAD
rs755608252	p.Thr314Met	missense variant	-	NC_000008.11:g.37831431C>T	ExAC,TOPMed,gnomAD
rs772469906	p.Ile318Val	missense variant	-	NC_000008.11:g.37831442A>G	ExAC,TOPMed,gnomAD
rs775651785	p.Gly319Cys	missense variant	-	NC_000008.11:g.37831445G>T	ExAC,TOPMed,gnomAD
rs775651785	p.Gly319Ser	missense variant	-	NC_000008.11:g.37831445G>A	ExAC,TOPMed,gnomAD
rs111714720	p.Val320Met	missense variant	-	NC_000008.11:g.37831448G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs111714720	p.Val320Leu	missense variant	-	NC_000008.11:g.37831448G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs111714720	p.Val320Leu	missense variant	-	NC_000008.11:g.37831448G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp321Leu	missense variant	-	NC_000008.11:g.37831452G>T	NCI-TCGA
rs1279138106	p.Ser323Leu	missense variant	-	NC_000008.11:g.37831458C>T	gnomAD
rs759374458	p.Glu325Asp	missense variant	-	NC_000008.11:g.37831465G>C	ExAC,gnomAD
rs751596098	p.Glu325Lys	missense variant	-	NC_000008.11:g.37831463G>A	ExAC,TOPMed,gnomAD
rs1346428037	p.Glu327Asp	missense variant	-	NC_000008.11:g.37831471G>C	TOPMed
rs1315657481	p.Thr329Ala	missense variant	-	NC_000008.11:g.37831475A>G	TOPMed
rs372154008	p.Val330Met	missense variant	-	NC_000008.11:g.37831478G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser331Tyr	missense variant	-	NC_000008.11:g.37831482C>A	NCI-TCGA
COSM3899893	p.Gln334Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.37831490C>T	NCI-TCGA Cosmic
rs779364501	p.Ala337Thr	missense variant	-	NC_000008.11:g.37831499G>A	ExAC,gnomAD
rs373912425	p.Ala337Val	missense variant	-	NC_000008.11:g.37831500C>T	ESP,ExAC,gnomAD
rs772381768	p.Lys340Glu	missense variant	-	NC_000008.11:g.37831508A>G	ExAC,TOPMed
rs780413544	p.Val341Leu	missense variant	-	NC_000008.11:g.37831511G>C	ExAC,TOPMed,gnomAD
rs780413544	p.Val341Met	missense variant	-	NC_000008.11:g.37831511G>A	ExAC,TOPMed,gnomAD
rs776971502	p.Val344Ala	missense variant	-	NC_000008.11:g.37831521T>C	ExAC,TOPMed,gnomAD
rs144648554	p.Val344Met	missense variant	-	NC_000008.11:g.37831520G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770032863	p.Val345Leu	missense variant	-	NC_000008.11:g.37831523G>C	ExAC,gnomAD
rs770032863	p.Val345Leu	missense variant	-	NC_000008.11:g.37831523G>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu347Lys	missense variant	-	NC_000008.11:g.37831529G>A	NCI-TCGA
rs147457253	p.Thr348Ile	missense variant	-	NC_000008.11:g.37831533C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376974362	p.Ser349Phe	missense variant	-	NC_000008.11:g.37831536C>T	ESP,ExAC,TOPMed,gnomAD
rs775149093	p.Ala350Thr	missense variant	-	NC_000008.11:g.37831538G>A	ExAC,gnomAD
rs763637104	p.Tyr352Cys	missense variant	-	NC_000008.11:g.37831545A>G	ExAC,TOPMed,gnomAD
rs1215633107	p.Cys353Arg	missense variant	-	NC_000008.11:g.37831547T>C	TOPMed
rs148701575	p.Ala355Thr	missense variant	-	NC_000008.11:g.37831553G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758912097	p.Glu356Lys	missense variant	-	NC_000008.11:g.37831556G>A	ExAC,gnomAD
rs373198805	p.Arg357Cys	missense variant	-	NC_000008.11:g.37831559C>T	ESP,ExAC,TOPMed,gnomAD
rs373315899	p.Arg357His	missense variant	-	NC_000008.11:g.37831560G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs373315899	p.Arg357Leu	missense variant	-	NC_000008.11:g.37831560G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1444423559	p.Val358Asp	missense variant	-	NC_000008.11:g.37831563T>A	gnomAD
rs902375244	p.Ala359Val	missense variant	-	NC_000008.11:g.37831566C>T	TOPMed
rs1167399280	p.Asn360Ser	missense variant	-	NC_000008.11:g.37831569A>G	gnomAD
rs142198191	p.Arg362His	missense variant	-	NC_000008.11:g.37831575G>A	ESP,ExAC,TOPMed,gnomAD
rs142198191	p.Arg362Leu	missense variant	-	NC_000008.11:g.37831575G>T	ESP,ExAC,TOPMed,gnomAD
rs375804717	p.Arg362Cys	missense variant	-	NC_000008.11:g.37831574C>T	ExAC,TOPMed,gnomAD
rs375804717	p.Arg362Ser	missense variant	-	NC_000008.11:g.37831574C>A	ExAC,TOPMed,gnomAD
rs1413257487	p.Gly363Arg	missense variant	-	NC_000008.11:g.37831577G>A	gnomAD
NCI-TCGA novel	p.Asp364Asn	missense variant	-	NC_000008.11:g.37831580G>A	NCI-TCGA
rs1387770557	p.Pro368Thr	missense variant	-	NC_000008.11:g.37833014C>A	gnomAD
rs762420194	p.Arg369Gln	missense variant	-	NC_000008.11:g.37833018G>A	ExAC,TOPMed,gnomAD
rs772902689	p.Arg369Ter	stop gained	-	NC_000008.11:g.37833017C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr370Ile	missense variant	-	NC_000008.11:g.37833021C>T	NCI-TCGA
rs765944866	p.Leu371Pro	missense variant	-	NC_000008.11:g.37833024T>C	ExAC,gnomAD
rs751960039	p.Gly373Asp	missense variant	-	NC_000008.11:g.37833030G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ile374Met	missense variant	-	NC_000008.11:g.37833034C>G	NCI-TCGA
rs1301480872	p.Thr375Ser	missense variant	-	NC_000008.11:g.37833035A>T	gnomAD
VAR_072561	p.Thr375Lys	Missense	-	-	UniProt
rs1334966831	p.Ala376Gly	missense variant	-	NC_000008.11:g.37833039C>G	gnomAD
rs767706651	p.Ser379Thr	missense variant	-	NC_000008.11:g.37833047T>A	ExAC,gnomAD
rs368368784	p.Gln382Glu	missense variant	-	NC_000008.11:g.37833056C>G	ESP
rs749263093	p.Thr386Ile	missense variant	-	NC_000008.11:g.37833069C>T	ExAC,gnomAD
rs1268235416	p.Ser387Leu	missense variant	-	NC_000008.11:g.37833072C>T	gnomAD
rs1340248683	p.Pro389Thr	missense variant	-	NC_000008.11:g.37833077C>A	TOPMed
rs1366103941	p.Pro389Arg	missense variant	-	NC_000008.11:g.37833078C>G	gnomAD
rs61738779	p.Gly391Ser	missense variant	-	NC_000008.11:g.37833083G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs549024344	p.Gly392Arg	missense variant	-	NC_000008.11:g.37833086G>A	1000Genomes,ExAC,gnomAD
rs781166006	p.Gly393Ser	missense variant	-	NC_000008.11:g.37833089G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly393ValPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.37833086G>-	NCI-TCGA
rs1333157452	p.Gly393Asp	missense variant	-	NC_000008.11:g.37833090G>A	TOPMed
rs376961808	p.Ala394Asp	missense variant	-	NC_000008.11:g.37833093C>A	ESP,TOPMed,gnomAD
rs747916539	p.Ala394Pro	missense variant	-	NC_000008.11:g.37833092G>C	ExAC,TOPMed,gnomAD
rs747916539	p.Ala394Ser	missense variant	-	NC_000008.11:g.37833092G>T	ExAC,TOPMed,gnomAD
rs762613563	p.Pro395Leu	missense variant	-	NC_000008.11:g.37833096C>T	ExAC,TOPMed,gnomAD
rs772813438	p.Pro395Thr	missense variant	-	NC_000008.11:g.37833095C>A	ExAC
rs762613563	p.Pro395Gln	missense variant	-	NC_000008.11:g.37833096C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr397HisPheSerTerUnk	frameshift	-	NC_000008.11:g.37833099_37833100insC	NCI-TCGA
rs200094683	p.Thr397Pro	missense variant	-	NC_000008.11:g.37833101A>C	ExAC,gnomAD
rs753302682	p.Arg398Gln	missense variant	-	NC_000008.11:g.37833105G>A	ExAC,gnomAD
rs1427297721	p.Arg398Ter	stop gained	-	NC_000008.11:g.37833104C>T	TOPMed
rs1480415680	p.Ser400Pro	missense variant	-	NC_000008.11:g.37833110T>C	gnomAD
rs1253136930	p.Arg401Cys	missense variant	-	NC_000008.11:g.37833113C>T	gnomAD
rs764578995	p.Arg401His	missense variant	-	NC_000008.11:g.37833114G>A	ExAC,TOPMed,gnomAD
rs200841231	p.Arg402Trp	missense variant	-	NC_000008.11:g.37833116C>T	ESP,ExAC,TOPMed,gnomAD
rs757509633	p.Arg402Gln	missense variant	-	NC_000008.11:g.37833117G>A	ExAC,TOPMed,gnomAD
rs1475942252	p.Asp404Gly	missense variant	-	NC_000008.11:g.37833123A>G	gnomAD
NCI-TCGA novel	p.Asp404Glu	missense variant	-	NC_000008.11:g.37833124C>A	NCI-TCGA
rs1002343532	p.Arg405Cys	missense variant	-	NC_000008.11:g.37833125C>T	gnomAD
rs146462494	p.Arg405Pro	missense variant	-	NC_000008.11:g.37833126G>C	ESP,ExAC,TOPMed,gnomAD
rs146462494	p.Arg405His	missense variant	-	NC_000008.11:g.37833126G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala406Val	missense variant	-	NC_000008.11:g.37833129C>T	NCI-TCGA
rs758456574	p.Ala406Thr	missense variant	-	NC_000008.11:g.37833128G>A	ExAC,gnomAD
rs144626797	p.Gly407Ser	missense variant	-	NC_000008.11:g.37833131G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755853239	p.Gly407Ala	missense variant	-	NC_000008.11:g.37833132G>C	ExAC,gnomAD
rs1357273209	p.Arg408Cys	missense variant	-	NC_000008.11:g.37833134C>T	gnomAD
rs200541731	p.Arg408Leu	missense variant	-	NC_000008.11:g.37833135G>T	ExAC,TOPMed,gnomAD
rs200541731	p.Arg408His	missense variant	-	NC_000008.11:g.37833135G>A	ExAC,TOPMed,gnomAD
rs1313488016	p.Trp409Ter	stop gained	-	NC_000008.11:g.37833138G>A	gnomAD
NCI-TCGA novel	p.Trp409Leu	missense variant	-	NC_000008.11:g.37833138G>T	NCI-TCGA
rs1306946674	p.Trp409Cys	missense variant	-	NC_000008.11:g.37833139G>T	gnomAD
rs1225543333	p.Glu410Asp	missense variant	-	NC_000008.11:g.37833142G>T	gnomAD
NCI-TCGA novel	p.Gly412Arg	missense variant	-	NC_000008.11:g.37833146G>A	NCI-TCGA
rs748824937	p.Asp413Tyr	missense variant	-	NC_000008.11:g.37833149G>T	ExAC,gnomAD
rs748824937	p.Asp413Asn	missense variant	-	NC_000008.11:g.37833149G>A	ExAC,gnomAD
rs770612185	p.His416Gln	missense variant	-	NC_000008.11:g.37833160C>G	ExAC,gnomAD
rs773928182	p.Leu418Arg	missense variant	-	NC_000008.11:g.37833165T>G	ExAC,gnomAD
rs773928182	p.Leu418Pro	missense variant	-	NC_000008.11:g.37833165T>C	ExAC,gnomAD
rs138505796	p.Asp422Asn	missense variant	-	NC_000008.11:g.37833176G>A	ESP,ExAC,TOPMed,gnomAD
rs138505796	p.Asp422Tyr	missense variant	-	NC_000008.11:g.37833176G>T	ESP,ExAC,TOPMed,gnomAD
rs1433929133	p.Val426Leu	missense variant	-	NC_000008.11:g.37833188G>T	gnomAD
rs1377239670	p.Tyr428Cys	missense variant	-	NC_000008.11:g.37833195A>G	gnomAD
NCI-TCGA novel	p.Tyr428His	missense variant	-	NC_000008.11:g.37833194T>C	NCI-TCGA
rs921325597	p.Phe430Leu	missense variant	-	NC_000008.11:g.37833200T>C	TOPMed,gnomAD
rs117702342	p.Val431Met	missense variant	-	NC_000008.11:g.37833203G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs117702342	p.Val431Leu	missense variant	-	NC_000008.11:g.37833203G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs763993358	p.Met433Arg	missense variant	-	NC_000008.11:g.37833689T>G	ExAC,gnomAD
rs763993358	p.Met433Lys	missense variant	-	NC_000008.11:g.37833689T>A	ExAC,gnomAD
rs149007198	p.Pro434Ser	missense variant	-	NC_000008.11:g.37833691C>T	ESP,ExAC,gnomAD
rs1159766421	p.Asn436Ser	missense variant	-	NC_000008.11:g.37833698A>G	TOPMed,gnomAD
rs143801865	p.Ser438Thr	missense variant	-	NC_000008.11:g.37833703T>A	ESP,TOPMed
rs1460933135	p.Asn439Lys	missense variant	-	NC_000008.11:g.37833708T>A	gnomAD
RCV000577868	p.Asn439Ter	frameshift	Ependymoma	NC_000008.11:g.37833707_37833725del	ClinVar
rs372692075	p.Asn439Ser	missense variant	-	NC_000008.11:g.37833707A>G	ESP,ExAC,TOPMed,gnomAD
rs750027952	p.Ala440Gly	missense variant	-	NC_000008.11:g.37833710C>G	ExAC,gnomAD
rs750027952	p.Ala440Val	missense variant	-	NC_000008.11:g.37833710C>T	ExAC,gnomAD
rs1437687784	p.Thr442Asn	missense variant	-	NC_000008.11:g.37833716C>A	gnomAD
NCI-TCGA novel	p.Leu443Met	missense variant	-	NC_000008.11:g.37833718C>A	NCI-TCGA
rs1450787657	p.Ala444Gly	missense variant	-	NC_000008.11:g.37833722C>G	TOPMed
rs1371577295	p.His445Gln	missense variant	-	NC_000008.11:g.37833726C>A	TOPMed,gnomAD
NCI-TCGA novel	p.His445Asn	missense variant	-	NC_000008.11:g.37833724C>A	NCI-TCGA
rs1371577295	p.His445Gln	missense variant	-	NC_000008.11:g.37833726C>G	TOPMed,gnomAD
rs148143932	p.Arg448His	missense variant	-	NC_000008.11:g.37833734G>A	ESP,ExAC,TOPMed,gnomAD
rs148143932	p.Arg448Pro	missense variant	-	NC_000008.11:g.37833734G>C	ESP,ExAC,TOPMed,gnomAD
rs199845696	p.Arg448Cys	missense variant	-	NC_000008.11:g.37833733C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs781696424	p.Val449Met	missense variant	-	NC_000008.11:g.37833736G>A	ExAC,TOPMed,gnomAD
rs748626720	p.Tyr450His	missense variant	-	NC_000008.11:g.37833739T>C	ExAC
rs770139947	p.Tyr450Cys	missense variant	-	NC_000008.11:g.37833740A>G	ExAC,TOPMed,gnomAD
rs770139947	p.Tyr450Phe	missense variant	-	NC_000008.11:g.37833740A>T	ExAC,TOPMed,gnomAD
rs1181360122	p.Thr451Ser	missense variant	-	NC_000008.11:g.37833742A>T	TOPMed
rs773451688	p.Ala452Thr	missense variant	-	NC_000008.11:g.37833745G>A	ExAC,TOPMed,gnomAD
rs773451688	p.Ala452Ser	missense variant	-	NC_000008.11:g.37833745G>T	ExAC,TOPMed,gnomAD
rs537952463	p.Glu453Lys	missense variant	-	NC_000008.11:g.37833748G>A	1000Genomes,ExAC,gnomAD
rs759578306	p.Ala455Thr	missense variant	-	NC_000008.11:g.37833754G>A	ExAC,TOPMed,gnomAD
rs767522506	p.Ser456Asn	missense variant	-	NC_000008.11:g.37833758G>A	ExAC,gnomAD
rs1484825798	p.Ser456Cys	missense variant	-	NC_000008.11:g.37833757A>T	TOPMed
rs1259206949	p.Met460Thr	missense variant	-	NC_000008.11:g.37833770T>C	gnomAD
rs761662538	p.Val464Ala	missense variant	-	NC_000008.11:g.37833782T>C	ExAC,gnomAD
rs201094555	p.Tyr465Ser	missense variant	-	NC_000008.11:g.37833785A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs201094555	p.Tyr465Cys	missense variant	-	NC_000008.11:g.37833785A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1328378635	p.Ala467Thr	missense variant	-	NC_000008.11:g.37833790G>A	gnomAD
rs1194148068	p.Ala467Val	missense variant	-	NC_000008.11:g.37833791C>T	gnomAD
NCI-TCGA novel	p.Gln468Ter	stop gained	-	NC_000008.11:g.37833793C>T	NCI-TCGA
rs1411987220	p.Gln468His	missense variant	-	NC_000008.11:g.37833795G>C	TOPMed,gnomAD
rs750175526	p.Met469Ile	missense variant	-	NC_000008.11:g.37833798G>A	ExAC,gnomAD
rs1382313779	p.Ile470Thr	missense variant	-	NC_000008.11:g.37833800T>C	TOPMed
NCI-TCGA novel	p.Phe473Cys	missense variant	-	NC_000008.11:g.37833809T>G	NCI-TCGA
NCI-TCGA novel	p.Phe473Leu	missense variant	-	NC_000008.11:g.37833810T>G	NCI-TCGA
rs141849061	p.Leu474Trp	missense variant	-	NC_000008.11:g.37833812T>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu474Phe	missense variant	-	NC_000008.11:g.37833813G>C	NCI-TCGA
rs754490022	p.Gly475Ser	missense variant	-	NC_000008.11:g.37833814G>A	ExAC,gnomAD
rs1383383122	p.Val477Ile	missense variant	-	NC_000008.11:g.37833820G>A	TOPMed
rs1288763091	p.Val477Ala	missense variant	-	NC_000008.11:g.37833821T>C	TOPMed
rs770196512	p.Asp478His	missense variant	-	NC_000008.11:g.37833823G>C	ExAC,TOPMed,gnomAD
rs770196512	p.Asp478Tyr	missense variant	-	NC_000008.11:g.37833823G>T	ExAC,TOPMed,gnomAD
rs770196512	p.Asp478Asn	missense variant	-	NC_000008.11:g.37833823G>A	ExAC,TOPMed,gnomAD
rs749630412	p.Asp478Ala	missense variant	-	NC_000008.11:g.37833824A>C	ExAC,gnomAD
rs973665501	p.Ile480Met	missense variant	-	NC_000008.11:g.37833831C>G	TOPMed
NCI-TCGA novel	p.Glu482Gln	missense variant	-	NC_000008.11:g.37833835G>C	NCI-TCGA
rs746300329	p.Leu483Gln	missense variant	-	NC_000008.11:g.37833968T>A	ExAC,gnomAD
rs772173368	p.Val484Ile	missense variant	-	NC_000008.11:g.37833970G>A	ExAC,TOPMed,gnomAD
rs1302160671	p.Glu485Val	missense variant	-	NC_000008.11:g.37833974A>T	gnomAD
rs1368517155	p.Val486Leu	missense variant	-	NC_000008.11:g.37833976G>T	TOPMed,gnomAD
rs1368517155	p.Val486Met	missense variant	-	NC_000008.11:g.37833976G>A	TOPMed,gnomAD
rs1235134721	p.Met487Thr	missense variant	-	NC_000008.11:g.37833980T>C	gnomAD
rs1349845190	p.Met490Val	missense variant	-	NC_000008.11:g.37833988A>G	gnomAD
rs959082670	p.Met490Thr	missense variant	-	NC_000008.11:g.37833989T>C	gnomAD
rs1466274224	p.Leu494Arg	missense variant	-	NC_000008.11:g.37834001T>G	gnomAD
rs372410228	p.Val497Leu	missense variant	-	NC_000008.11:g.37834009G>T	ESP,ExAC,TOPMed,gnomAD
rs372410228	p.Val497Leu	missense variant	-	NC_000008.11:g.37834009G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp498Glu	missense variant	-	NC_000008.11:g.37834014C>A	NCI-TCGA
rs766211508	p.Glu499Lys	missense variant	-	NC_000008.11:g.37834015G>A	ExAC,TOPMed,gnomAD
rs1157523983	p.Leu501Arg	missense variant	-	NC_000008.11:g.37834022T>G	gnomAD
rs759430377	p.Ala505Val	missense variant	-	NC_000008.11:g.37834034C>T	ExAC,gnomAD
rs376398915	p.Arg507Ser	missense variant	-	NC_000008.11:g.37834039C>A	ESP,ExAC,TOPMed,gnomAD
rs376398915	p.Arg507Cys	missense variant	-	NC_000008.11:g.37834039C>T	ESP,ExAC,TOPMed,gnomAD
rs369743546	p.Arg507His	missense variant	-	NC_000008.11:g.37834040G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372027558	p.Glu508Lys	missense variant	-	NC_000008.11:g.37834042G>A	ESP,ExAC,TOPMed,gnomAD
rs1334912395	p.Arg514Cys	missense variant	-	NC_000008.11:g.37834060C>T	TOPMed,gnomAD
rs201472750	p.Arg514His	missense variant	-	NC_000008.11:g.37834061G>A	ExAC,TOPMed,gnomAD
rs139193794	p.Ile515Leu	missense variant	-	NC_000008.11:g.37834063A>C	ESP,ExAC,TOPMed,gnomAD
rs758837731	p.Val516Met	missense variant	-	NC_000008.11:g.37834066G>A	ExAC,TOPMed,gnomAD
rs1217024867	p.Glu520Lys	missense variant	-	NC_000008.11:g.37834078G>A	gnomAD
rs376864601	p.Arg521His	missense variant	-	NC_000008.11:g.37834082G>A	ESP,ExAC,TOPMed,gnomAD
rs201586378	p.Arg521Cys	missense variant	-	NC_000008.11:g.37834081C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs143101001	p.Ile522Thr	missense variant	-	NC_000008.11:g.37834085T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs748306655	p.Gly523Val	missense variant	-	NC_000008.11:g.37834088G>T	ExAC,TOPMed,gnomAD
rs748306655	p.Gly523Ala	missense variant	-	NC_000008.11:g.37834088G>C	ExAC,TOPMed,gnomAD
rs774475444	p.Ala525Gly	missense variant	-	NC_000008.11:g.37834094C>G	ExAC,TOPMed,gnomAD
rs1472664602	p.Ala525Thr	missense variant	-	NC_000008.11:g.37834093G>A	gnomAD
COSM1456830	p.Ala525ProPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.37834087G>-	NCI-TCGA Cosmic
rs533313019	p.Ala526Thr	missense variant	-	NC_000008.11:g.37834096G>A	1000Genomes,ExAC,gnomAD
rs1163432368	p.Ala526Val	missense variant	-	NC_000008.11:g.37834097C>T	gnomAD
rs533313019	p.Ala526Ser	missense variant	-	NC_000008.11:g.37834096G>T	1000Genomes,ExAC,gnomAD
rs1309849298	p.His530Tyr	missense variant	-	NC_000008.11:g.37834108C>T	gnomAD
rs763526015	p.Val536Gly	missense variant	-	NC_000008.11:g.37834127T>G	ExAC,TOPMed
rs763526015	p.Val536Ala	missense variant	-	NC_000008.11:g.37834127T>C	ExAC,TOPMed
NCI-TCGA novel	p.Ala538Gly	missense variant	-	NC_000008.11:g.37835178C>G	NCI-TCGA
rs764749791	p.Ala538Ser	missense variant	-	NC_000008.11:g.37835177G>T	ExAC,gnomAD
rs147459946	p.Ala538Val	missense variant	-	NC_000008.11:g.37835178C>T	ESP,ExAC,TOPMed,gnomAD
rs113270504	p.Val541Met	missense variant	-	NC_000008.11:g.37835186G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs113270504	p.Val541Leu	missense variant	-	NC_000008.11:g.37835186G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1280850272	p.Ala542Val	missense variant	-	NC_000008.11:g.37835190C>T	TOPMed
NCI-TCGA novel	p.Glu544Gln	missense variant	-	NC_000008.11:g.37835195G>C	NCI-TCGA
rs144642857	p.Tyr546Cys	missense variant	-	NC_000008.11:g.37835202A>G	ESP,ExAC,TOPMed,gnomAD
rs1300027515	p.Lys549Asn	missense variant	-	NC_000008.11:g.37835212G>C	gnomAD
rs1219003612	p.Pro550Arg	missense variant	-	NC_000008.11:g.37835214C>G	TOPMed,gnomAD
rs1219003612	p.Pro550Leu	missense variant	-	NC_000008.11:g.37835214C>T	TOPMed,gnomAD
rs200624144	p.Pro550Ser	missense variant	-	NC_000008.11:g.37835213C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201174940	p.Ser552Gly	missense variant	-	NC_000008.11:g.37835219A>G	ExAC,gnomAD
rs746790129	p.Ser552Arg	missense variant	-	NC_000008.11:g.37835221C>G	ExAC,gnomAD
rs779907476	p.Ser552Asn	missense variant	-	NC_000008.11:g.37835220G>A	ExAC,gnomAD
rs776216887	p.Val554Met	missense variant	-	NC_000008.11:g.37835225G>A	ExAC,TOPMed,gnomAD
rs761472755	p.Thr557Asn	missense variant	-	NC_000008.11:g.37835235C>A	ExAC,gnomAD
rs769230814	p.Ala560Val	missense variant	-	NC_000008.11:g.37835244C>T	ExAC,TOPMed,gnomAD
COSM6113465	p.Arg563Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37835253G>A	NCI-TCGA Cosmic
rs367822457	p.Arg564Lys	missense variant	-	NC_000008.11:g.37835256G>A	ESP,ExAC,TOPMed,gnomAD
rs541430208	p.Gly566Glu	missense variant	-	NC_000008.11:g.37835262G>A	gnomAD
rs759935424	p.Val568Met	missense variant	-	NC_000008.11:g.37835267G>A	ExAC,TOPMed,gnomAD
rs759935424	p.Val568Leu	missense variant	-	NC_000008.11:g.37835267G>C	ExAC,TOPMed,gnomAD
rs532029404	p.Pro569Leu	missense variant	-	NC_000008.11:g.37835271C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1352471050	p.Gly570Ser	missense variant	-	NC_000008.11:g.37835273G>A	TOPMed
rs1436268965	p.Thr571Ala	missense variant	-	NC_000008.11:g.37835276A>G	gnomAD
rs200522621	p.Arg572Leu	missense variant	-	NC_000008.11:g.37835280G>T	ESP,ExAC,TOPMed,gnomAD
rs756407996	p.Arg572Trp	missense variant	-	NC_000008.11:g.37835279C>T	ExAC,TOPMed,gnomAD
rs756407996	p.Arg572Gly	missense variant	-	NC_000008.11:g.37835279C>G	ExAC,TOPMed,gnomAD
rs200522621	p.Arg572Gln	missense variant	-	NC_000008.11:g.37835280G>A	ESP,ExAC,TOPMed,gnomAD
rs1288198870	p.Gly574Arg	missense variant	-	NC_000008.11:g.37835285G>A	gnomAD
rs746972164	p.Pro580Ser	missense variant	-	NC_000008.11:g.37835303C>T	ExAC,gnomAD
rs754709982	p.Pro581Thr	missense variant	-	NC_000008.11:g.37835306C>A	ExAC,gnomAD
rs148475803	p.Pro581Gln	missense variant	-	NC_000008.11:g.37835307C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148475803	p.Pro581Leu	missense variant	-	NC_000008.11:g.37835307C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754709982	p.Pro581Ser	missense variant	-	NC_000008.11:g.37835306C>T	ExAC,gnomAD
rs148475803	p.Pro581Arg	missense variant	-	NC_000008.11:g.37835307C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM2959886	p.Pro581HisPheSerTerUnkUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.37835302C>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro582Arg	missense variant	-	NC_000008.11:g.37835310C>G	NCI-TCGA
rs776152455	p.Glu583Lys	missense variant	-	NC_000008.11:g.37835312G>A	ExAC,TOPMed,gnomAD
rs1488653725	p.Glu583Gly	missense variant	-	NC_000008.11:g.37835313A>G	gnomAD
rs772791568	p.Glu583Asp	missense variant	-	NC_000008.11:g.37835314G>T	ExAC,gnomAD
rs532653294	p.Glu585Lys	missense variant	-	NC_000008.11:g.37835318G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs532653294	p.Glu585Gln	missense variant	-	NC_000008.11:g.37835318G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs760129498	p.Pro586Ser	missense variant	-	NC_000008.11:g.37835321C>T	ExAC,TOPMed,gnomAD
rs1452069387	p.Pro586Leu	missense variant	-	NC_000008.11:g.37835322C>T	gnomAD
rs1334816285	p.Pro587Ala	missense variant	-	NC_000008.11:g.37835324C>G	TOPMed,gnomAD
rs1244362714	p.Asp589Asn	missense variant	-	NC_000008.11:g.37835330G>A	TOPMed
rs1192172828	p.Gln591Ter	stop gained	-	NC_000008.11:g.37835336C>T	TOPMed
NCI-TCGA novel	p.Leu592Phe	missense variant	-	NC_000008.11:g.37835339C>T	NCI-TCGA
rs1405023262	p.Arg593Cys	missense variant	-	NC_000008.11:g.37835342C>T	gnomAD
rs144121516	p.Arg593His	missense variant	-	NC_000008.11:g.37835343G>A	ESP,ExAC,TOPMed,gnomAD
rs780162380	p.Arg595His	missense variant	-	NC_000008.11:g.37835349G>A	ExAC,TOPMed,gnomAD
rs1351988356	p.Arg595Cys	missense variant	-	NC_000008.11:g.37835348C>T	gnomAD
rs1349147158	p.Cys596Tyr	missense variant	-	NC_000008.11:g.37835352G>A	gnomAD
COSM3648763	p.Thr598Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37835358C>T	NCI-TCGA Cosmic
rs754039771	p.Gly599Arg	missense variant	-	NC_000008.11:g.37835360G>A	ExAC,TOPMed,gnomAD
rs757311859	p.Gly599Glu	missense variant	-	NC_000008.11:g.37835361G>A	ExAC,gnomAD
rs146483342	p.Arg600Lys	missense variant	-	NC_000008.11:g.37835364G>A	ESP,ExAC,TOPMed,gnomAD
rs765246403	p.Arg600Gly	missense variant	-	NC_000008.11:g.37835363A>G	ExAC,gnomAD
rs754908217	p.Pro601Leu	missense variant	-	NC_000008.11:g.37835367C>T	ExAC,gnomAD
rs140910422	p.Asn602Ser	missense variant	-	NC_000008.11:g.37835370A>G	ESP,ExAC,TOPMed,gnomAD
rs1341260917	p.Ser604Cys	missense variant	-	NC_000008.11:g.37835376C>G	TOPMed
rs1233548466	p.Ser606Pro	missense variant	-	NC_000008.11:g.37835381T>C	gnomAD
rs751839090	p.Ser606Trp	missense variant	-	NC_000008.11:g.37835382C>G	TOPMed,gnomAD
rs751839090	p.Ser606Leu	missense variant	-	NC_000008.11:g.37835382C>T	TOPMed,gnomAD
rs1201641250	p.Ser607Phe	missense variant	-	NC_000008.11:g.37835385C>T	TOPMed,gnomAD
COSM3996041	p.Phe608Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37835389C>G	NCI-TCGA Cosmic
rs776858254	p.Asn612Lys	missense variant	-	NC_000008.11:g.37835556C>G	ExAC,TOPMed,gnomAD
rs757708388	p.Val614Met	missense variant	-	NC_000008.11:g.37835560G>A	TOPMed,gnomAD
rs1466577787	p.Ala615Val	missense variant	-	NC_000008.11:g.37835564C>T	gnomAD
rs1377597127	p.Ala617Thr	missense variant	-	NC_000008.11:g.37835569G>A	TOPMed,gnomAD
rs377757244	p.Ile619Val	missense variant	-	NC_000008.11:g.37835575A>G	ESP
rs370919357	p.Pro623Arg	missense variant	-	NC_000008.11:g.37835588C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370919357	p.Pro623Leu	missense variant	-	NC_000008.11:g.37835588C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1318198369	p.Ser624Arg	missense variant	-	NC_000008.11:g.37835592T>A	gnomAD
rs752568389	p.Leu625Ile	missense variant	-	NC_000008.11:g.37835593C>A	ExAC,gnomAD
rs1371415917	p.Phe626Leu	missense variant	-	NC_000008.11:g.37835598C>A	gnomAD
rs760530594	p.Ser627Leu	missense variant	-	NC_000008.11:g.37835600C>T	ExAC,TOPMed,gnomAD
rs1322685559	p.Leu629Phe	missense variant	-	NC_000008.11:g.37835605C>T	gnomAD
rs375559793	p.Pro630Leu	missense variant	-	NC_000008.11:g.37835609C>T	ESP,ExAC,TOPMed,gnomAD
rs757123112	p.Ala632Val	missense variant	-	NC_000008.11:g.37835615C>T	ExAC,gnomAD
rs1227849649	p.Ala634Thr	missense variant	-	NC_000008.11:g.37835620G>A	TOPMed,gnomAD
rs780827422	p.Pro635Ala	missense variant	-	NC_000008.11:g.37835623C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro635Thr	missense variant	-	NC_000008.11:g.37835623C>A	NCI-TCGA
rs780827422	p.Pro635Ser	missense variant	-	NC_000008.11:g.37835623C>T	ExAC,TOPMed,gnomAD
rs996655314	p.Pro635Arg	missense variant	-	NC_000008.11:g.37835624C>G	TOPMed
rs750123578	p.Pro636Ser	missense variant	-	NC_000008.11:g.37835626C>T	ExAC,gnomAD
rs757925880	p.Pro636Leu	missense variant	-	NC_000008.11:g.37835627C>T	ExAC,gnomAD
rs769033601	p.Val637Ala	missense variant	-	NC_000008.11:g.37835630T>C	ExAC,gnomAD
rs746597892	p.Val637Leu	missense variant	-	NC_000008.11:g.37835629G>C	ExAC,gnomAD
rs781749311	p.Asp640Tyr	missense variant	-	NC_000008.11:g.37835638G>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu646Phe	missense variant	-	NC_000008.11:g.37835656C>T	NCI-TCGA
rs151148392	p.Val647Phe	missense variant	-	NC_000008.11:g.37835659G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs151148392	p.Val647Ile	missense variant	-	NC_000008.11:g.37835659G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs542887952	p.Arg649Gln	missense variant	-	NC_000008.11:g.37835666G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs898277851	p.Arg649Ter	stop gained	-	NC_000008.11:g.37835665C>T	gnomAD
rs1349776647	p.Gly651Cys	missense variant	-	NC_000008.11:g.37835671G>T	TOPMed,gnomAD
rs763915452	p.Arg652Cys	missense variant	-	NC_000008.11:g.37835674C>T	ExAC,TOPMed,gnomAD
rs776668118	p.Arg652His	missense variant	-	NC_000008.11:g.37835675G>A	ExAC,TOPMed,gnomAD
rs776668118	p.Arg652Leu	missense variant	-	NC_000008.11:g.37835675G>T	ExAC,TOPMed,gnomAD
rs1288899930	p.Leu653Phe	missense variant	-	NC_000008.11:g.37835677C>T	TOPMed
rs1240050178	p.Phe654Ser	missense variant	-	NC_000008.11:g.37835681T>C	gnomAD
rs765139370	p.His655Pro	missense variant	-	NC_000008.11:g.37835684A>C	ExAC,gnomAD
rs765139370	p.His655Arg	missense variant	-	NC_000008.11:g.37835684A>G	ExAC,gnomAD
COSM4936951	p.His655Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37835685C>G	NCI-TCGA Cosmic
rs1354754552	p.His657Arg	missense variant	-	NC_000008.11:g.37835690A>G	gnomAD
COSM1099480	p.Asn659Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37835696A>C	NCI-TCGA Cosmic
rs766196801	p.Thr660Ser	missense variant	-	NC_000008.11:g.37835698A>T	ExAC,gnomAD
rs1480282596	p.Thr660Asn	missense variant	-	NC_000008.11:g.37835699C>A	gnomAD
rs368535918	p.Arg662Cys	missense variant	-	NC_000008.11:g.37835704C>T	ESP,ExAC,TOPMed,gnomAD
rs576854487	p.Arg662His	missense variant	-	NC_000008.11:g.37835705G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1369911157	p.Pro663Thr	missense variant	-	NC_000008.11:g.37835707C>A	TOPMed
rs756409530	p.Gly669Ala	missense variant	-	NC_000008.11:g.37835726G>C	ExAC,gnomAD
rs778110980	p.Arg671Lys	missense variant	-	NC_000008.11:g.37835732G>A	ExAC,TOPMed,gnomAD
rs778110980	p.Arg671Thr	missense variant	-	NC_000008.11:g.37835732G>C	ExAC,TOPMed,gnomAD
rs1188260710	p.Arg672Cys	missense variant	-	NC_000008.11:g.37835734C>T	TOPMed
rs200127115	p.Arg672His	missense variant	-	NC_000008.11:g.37835735G>A	ESP,ExAC,TOPMed,gnomAD
COSM486415	p.Arg672Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37835734C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly673Ser	missense variant	-	NC_000008.11:g.37835737G>A	NCI-TCGA
rs772222895	p.Val674Met	missense variant	-	NC_000008.11:g.37835740G>A	ExAC,TOPMed,gnomAD
rs565289543	p.Ala675Thr	missense variant	-	NC_000008.11:g.37835743G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs565289543	p.Ala675Ser	missense variant	-	NC_000008.11:g.37835743G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs747192822	p.Thr676Asn	missense variant	-	NC_000008.11:g.37835747C>A	TOPMed
rs747192822	p.Thr676Ile	missense variant	-	NC_000008.11:g.37835747C>T	TOPMed
COSM1314019	p.Pro677Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37835749C>T	NCI-TCGA Cosmic
rs765333292	p.Val678Ile	missense variant	-	NC_000008.11:g.37835752G>A	ExAC,TOPMed,gnomAD
rs765333292	p.Val678Leu	missense variant	-	NC_000008.11:g.37835752G>C	ExAC,TOPMed,gnomAD
COSM1456833	p.Val678SerPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.37835747C>-	NCI-TCGA Cosmic
rs751259318	p.Ala681Val	missense variant	-	NC_000008.11:g.37835762C>T	ExAC,gnomAD
rs77369926	p.Ala681Thr	missense variant	-	NC_000008.11:g.37835761G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs77369926	p.Ala681Ser	missense variant	-	NC_000008.11:g.37835761G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1341826852	p.Thr683Ile	missense variant	-	NC_000008.11:g.37835768C>T	gnomAD
rs1376002955	p.Gly685Ser	missense variant	-	NC_000008.11:g.37837733G>A	gnomAD
rs1386217136	p.Cys686Arg	missense variant	-	NC_000008.11:g.37837736T>C	TOPMed
rs199799909	p.Gly687Asp	missense variant	-	NC_000008.11:g.37837740G>A	ESP,ExAC,TOPMed,gnomAD
rs556940000	p.Val688Met	missense variant	-	NC_000008.11:g.37837742G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1433403113	p.Asn690Ser	missense variant	-	NC_000008.11:g.37837749A>G	gnomAD
rs369802230	p.Thr692Arg	missense variant	-	NC_000008.11:g.37837755C>G	ESP
rs1386719440	p.Glu693Asp	missense variant	-	NC_000008.11:g.37837759G>T	TOPMed,gnomAD
rs1299742090	p.Pro694Leu	missense variant	-	NC_000008.11:g.37837761C>T	gnomAD
rs779341360	p.Ala696Thr	missense variant	-	NC_000008.11:g.37837766G>A	ExAC,gnomAD
rs377569553	p.Val697Ile	missense variant	-	NC_000008.11:g.37837769G>A	ESP,ExAC,TOPMed,gnomAD
rs575195976	p.Ser698Leu	missense variant	-	NC_000008.11:g.37837773C>T	1000Genomes,ExAC,gnomAD
rs777808856	p.Arg700Gln	missense variant	-	NC_000008.11:g.37837779G>A	ExAC,gnomAD
rs768890920	p.Arg700Trp	missense variant	-	NC_000008.11:g.37837778C>T	ExAC,gnomAD
rs375163748	p.Trp702Arg	missense variant	-	NC_000008.11:g.37837784T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770560706	p.Trp702Ter	stop gained	-	NC_000008.11:g.37837785G>A	ExAC,gnomAD
rs375163748	p.Trp702Arg	missense variant	-	NC_000008.11:g.37837784T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774187173	p.Ala703Thr	missense variant	-	NC_000008.11:g.37837787G>A	ExAC,gnomAD
rs1411282098	p.Glu704Lys	missense variant	-	NC_000008.11:g.37837790G>A	gnomAD
rs1286105782	p.Ala706Pro	missense variant	-	NC_000008.11:g.37837796G>C	TOPMed
rs200831475	p.Glu707Lys	missense variant	-	NC_000008.11:g.37837799G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1346166701	p.Pro708Ser	missense variant	-	NC_000008.11:g.37837802C>T	gnomAD
rs1346166701	p.Pro708Thr	missense variant	-	NC_000008.11:g.37837802C>A	gnomAD
rs956546580	p.Val709Met	missense variant	-	NC_000008.11:g.37837805G>A	TOPMed
rs992138314	p.Ala711Thr	missense variant	-	NC_000008.11:g.37837811G>A	TOPMed,gnomAD
rs1337120182	p.Ala711Val	missense variant	-	NC_000008.11:g.37837812C>T	TOPMed
rs923206790	p.Ser714Gly	missense variant	-	NC_000008.11:g.37837820A>G	TOPMed,gnomAD
rs953018817	p.Ser714Thr	missense variant	-	NC_000008.11:g.37837821G>C	TOPMed
rs953018817	p.Ser714Ile	missense variant	-	NC_000008.11:g.37837821G>T	TOPMed
rs1320726229	p.Glu716Asp	missense variant	-	NC_000008.11:g.37837828G>T	TOPMed
rs1287181742	p.Glu716Lys	missense variant	-	NC_000008.11:g.37837826G>A	gnomAD
rs985799684	p.Gly717Glu	missense variant	-	NC_000008.11:g.37837830G>A	TOPMed,gnomAD
rs985799684	p.Gly717Val	missense variant	-	NC_000008.11:g.37837830G>T	TOPMed,gnomAD
rs1384840050	p.Pro718Thr	missense variant	-	NC_000008.11:g.37837832C>A	TOPMed
rs1384840050	p.Pro718Ser	missense variant	-	NC_000008.11:g.37837832C>T	TOPMed
rs199996336	p.Gly719Arg	missense variant	-	NC_000008.11:g.37837835G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1219080812	p.Ala721Asp	missense variant	-	NC_000008.11:g.37837842C>A	gnomAD
rs1044641803	p.Gly722Ala	missense variant	-	NC_000008.11:g.37837845G>C	TOPMed
rs1044641803	p.Gly722Glu	missense variant	-	NC_000008.11:g.37837845G>A	TOPMed
rs1293909372	p.Gly722Arg	missense variant	-	NC_000008.11:g.37837844G>A	gnomAD
rs1190723275	p.Gly723Cys	missense variant	-	NC_000008.11:g.37837847G>T	TOPMed
rs1181303930	p.Thr725Ile	missense variant	-	NC_000008.11:g.37837854C>T	gnomAD
rs760136473	p.Ser726Leu	missense variant	-	NC_000008.11:g.37837857C>T	ExAC,TOPMed,gnomAD
rs540455046	p.Glu727Lys	missense variant	-	NC_000008.11:g.37837859G>A	1000Genomes,ExAC,gnomAD
rs1405194352	p.Gly728Asp	missense variant	-	NC_000008.11:g.37837863G>A	gnomAD
rs561721576	p.Gln730His	missense variant	-	NC_000008.11:g.37837870G>C	1000Genomes,ExAC,gnomAD
rs1036558150	p.Leu731Val	missense variant	-	NC_000008.11:g.37837871C>G	TOPMed
rs373244928	p.Arg732His	missense variant	-	NC_000008.11:g.37837875G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762378669	p.Arg732Cys	missense variant	-	NC_000008.11:g.37837874C>T	ExAC,TOPMed,gnomAD
rs1056707802	p.Ser734Asn	missense variant	-	NC_000008.11:g.37837881G>A	TOPMed
rs1279819569	p.Asn737Ser	missense variant	-	NC_000008.11:g.37837890A>G	gnomAD
rs1377947947	p.Val738Ile	missense variant	-	NC_000008.11:g.37837892G>A	gnomAD
rs1316926078	p.Ala740Thr	missense variant	-	NC_000008.11:g.37837898G>A	gnomAD
rs1204356053	p.Cys743Tyr	missense variant	-	NC_000008.11:g.37837908G>A	gnomAD
rs1272388919	p.Gln744Arg	missense variant	-	NC_000008.11:g.37837911A>G	gnomAD
rs758733630	p.His745Tyr	missense variant	-	NC_000008.11:g.37837913C>T	ExAC
rs896754986	p.His745Arg	missense variant	-	NC_000008.11:g.37837914A>G	TOPMed,gnomAD
rs1472603041	p.Asn748Ser	missense variant	-	NC_000008.11:g.37837923A>G	gnomAD
rs1387474132	p.Ala750Val	missense variant	-	NC_000008.11:g.37837929C>T	gnomAD
rs376518979	p.Ala750Ser	missense variant	-	NC_000008.11:g.37837928G>T	ESP,ExAC,gnomAD
rs755055053	p.Val751Met	missense variant	-	NC_000008.11:g.37837931G>A	ExAC,TOPMed,gnomAD
rs901613763	p.Leu752Phe	missense variant	-	NC_000008.11:g.37837934C>T	gnomAD
rs1411191890	p.Met753Thr	missense variant	-	NC_000008.11:g.37837938T>C	gnomAD
rs755243275	p.Glu754Gly	missense variant	-	NC_000008.11:g.37838957A>G	ExAC,gnomAD
rs1335523011	p.Ser756Asn	missense variant	-	NC_000008.11:g.37838963G>A	gnomAD
rs752796811	p.Ser756Arg	missense variant	-	NC_000008.11:g.37838964C>G	ExAC,gnomAD
rs752796811	p.Ser756Arg	missense variant	-	NC_000008.11:g.37838964C>A	ExAC,gnomAD
rs767906096	p.Ser756Gly	missense variant	-	NC_000008.11:g.37838962A>G	ExAC,TOPMed,gnomAD
rs1438574092	p.Ala757Val	missense variant	-	NC_000008.11:g.37838966C>T	TOPMed
rs143113584	p.Ala757Pro	missense variant	-	NC_000008.11:g.37838965G>C	ESP,ExAC,TOPMed,gnomAD
rs143113584	p.Ala757Thr	missense variant	-	NC_000008.11:g.37838965G>A	ESP,ExAC,TOPMed,gnomAD
rs866647503	p.Arg760Lys	missense variant	-	NC_000008.11:g.37838975G>A	gnomAD
rs768275803	p.Gly763Arg	missense variant	-	NC_000008.11:g.37838983G>A	ExAC,gnomAD
rs1156377149	p.Gly763Val	missense variant	-	NC_000008.11:g.37838984G>T	gnomAD
rs1322865383	p.Gly764Asp	missense variant	-	NC_000008.11:g.37838987G>A	gnomAD
rs776308461	p.Gly764Cys	missense variant	-	NC_000008.11:g.37838986G>T	ExAC,gnomAD
rs377613583	p.Ala765Thr	missense variant	-	NC_000008.11:g.37838989G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs531290202	p.Gly766Arg	missense variant	-	NC_000008.11:g.37838992G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs531290202	p.Gly766Arg	missense variant	-	NC_000008.11:g.37838992G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1228021414	p.Gly766Ala	missense variant	-	NC_000008.11:g.37838993G>C	gnomAD
rs1259183039	p.Ala767Ser	missense variant	-	NC_000008.11:g.37838995G>T	gnomAD
rs1353365321	p.Gly768Arg	missense variant	-	NC_000008.11:g.37838998G>A	gnomAD
rs1206069658	p.Gly768Glu	missense variant	-	NC_000008.11:g.37838999G>A	gnomAD
rs760025113	p.Leu769Met	missense variant	-	NC_000008.11:g.37839001C>A	ExAC,gnomAD
COSM3899895	p.Leu769Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37839002T>C	NCI-TCGA Cosmic
rs1225311621	p.His770Tyr	missense variant	-	NC_000008.11:g.37839004C>T	gnomAD
rs752892180	p.Pro771Ser	missense variant	-	NC_000008.11:g.37839007C>T	ExAC,gnomAD
rs760757462	p.Pro771His	missense variant	-	NC_000008.11:g.37839008C>A	ExAC,TOPMed,gnomAD
rs141853893	p.Val772Leu	missense variant	-	NC_000008.11:g.37839010G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141853893	p.Val772Met	missense variant	-	NC_000008.11:g.37839010G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141853893	p.Val772Leu	missense variant	-	NC_000008.11:g.37839010G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1223542591	p.Val772Ala	missense variant	-	NC_000008.11:g.37839011T>C	TOPMed,gnomAD
rs1363429268	p.Val773Ile	missense variant	-	NC_000008.11:g.37839013G>A	TOPMed,gnomAD
rs1424423091	p.Tyr774Ter	stop gained	-	NC_000008.11:g.37839018C>A	TOPMed
rs754799749	p.Pro775Leu	missense variant	-	NC_000008.11:g.37839020C>T	ExAC,gnomAD
rs150613930	p.Thr777Ala	missense variant	-	NC_000008.11:g.37839025A>G	ESP
rs758313655	p.Thr777Met	missense variant	-	NC_000008.11:g.37839026C>T	ExAC,TOPMed,gnomAD
rs1239984335	p.Leu782Phe	missense variant	-	NC_000008.11:g.37839040C>T	gnomAD
rs771538504	p.Cys783Gly	missense variant	-	NC_000008.11:g.37839043T>G	ExAC,gnomAD
rs530892647	p.Phe785Leu	missense variant	-	NC_000008.11:g.37839051C>G	ExAC,TOPMed,gnomAD
rs139221615	p.Ala786Pro	missense variant	-	NC_000008.11:g.37839052G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139221615	p.Ala786Thr	missense variant	-	NC_000008.11:g.37839052G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1482469169	p.Thr787Ile	missense variant	-	NC_000008.11:g.37839056C>T	gnomAD
NCI-TCGA novel	p.Ile789Val	missense variant	-	NC_000008.11:g.37839061A>G	NCI-TCGA
rs764442933	p.Ile792Ser	missense variant	-	NC_000008.11:g.37839071T>G	ExAC,TOPMed,gnomAD
rs753840651	p.Asn794Thr	missense variant	-	NC_000008.11:g.37839077A>C	ExAC,gnomAD
rs1186330068	p.Asn794Asp	missense variant	-	NC_000008.11:g.37839076A>G	gnomAD
COSM2153158	p.Ser797Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37839500T>C	NCI-TCGA Cosmic
rs780651961	p.Ile798Asn	missense variant	-	NC_000008.11:g.37839504T>A	ExAC,gnomAD
rs372478146	p.Arg799Pro	missense variant	-	NC_000008.11:g.37839507G>C	ExAC,TOPMed,gnomAD
rs769088412	p.Arg799Cys	missense variant	-	NC_000008.11:g.37839506C>T	ExAC,TOPMed,gnomAD
rs372478146	p.Arg799His	missense variant	-	NC_000008.11:g.37839507G>A	ExAC,TOPMed,gnomAD
rs770071611	p.Arg802Gln	missense variant	-	NC_000008.11:g.37839516G>A	ExAC,TOPMed,gnomAD
rs748376886	p.Arg802Trp	missense variant	-	NC_000008.11:g.37839515C>T	ExAC,gnomAD
NCI-TCGA novel	p.Trp805Leu	missense variant	-	NC_000008.11:g.37839525G>T	NCI-TCGA
rs1427226768	p.Trp805Gly	missense variant	-	NC_000008.11:g.37839524T>G	gnomAD
rs773272082	p.Met807Thr	missense variant	-	NC_000008.11:g.37839531T>C	ExAC,gnomAD
rs1177336700	p.Met807Leu	missense variant	-	NC_000008.11:g.37839530A>C	gnomAD
NCI-TCGA novel	p.Asn810Ser	missense variant	-	NC_000008.11:g.37839540A>G	NCI-TCGA
rs1452064107	p.Leu811Met	missense variant	-	NC_000008.11:g.37839542T>A	gnomAD
rs1291196279	p.Leu811Phe	missense variant	-	NC_000008.11:g.37839544G>C	gnomAD
COSM3899897	p.Leu811Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37839542T>G	NCI-TCGA Cosmic
rs142623497	p.Cys812Tyr	missense variant	-	NC_000008.11:g.37839546G>A	ESP,ExAC,TOPMed,gnomAD
rs1404838590	p.Ile815Lys	missense variant	-	NC_000008.11:g.37839555T>A	gnomAD
rs767322373	p.Ser819Pro	missense variant	-	NC_000008.11:g.37839566T>C	ExAC,gnomAD
rs775525561	p.Ala823Val	missense variant	-	NC_000008.11:g.37839579C>T	ExAC,TOPMed
rs61745949	p.Ile826Val	missense variant	-	NC_000008.11:g.37839587A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs765040936	p.Asn830Ser	missense variant	-	NC_000008.11:g.37839600A>G	ExAC,TOPMed
rs1217636556	p.Asn830Lys	missense variant	-	NC_000008.11:g.37839601C>A	gnomAD
rs139902661	p.Gln832Arg	missense variant	-	NC_000008.11:g.37839606A>G	ESP,ExAC,TOPMed,gnomAD
rs1455239338	p.Met833Thr	missense variant	-	NC_000008.11:g.37839609T>C	TOPMed
rs371352921	p.Val834Phe	missense variant	-	NC_000008.11:g.37839611G>T	ESP,ExAC,TOPMed,gnomAD
rs371352921	p.Val834Ile	missense variant	-	NC_000008.11:g.37839611G>A	ESP,ExAC,TOPMed,gnomAD
rs780377873	p.Cys835Tyr	missense variant	-	NC_000008.11:g.37839615G>A	ExAC,gnomAD
rs780377873	p.Cys835Phe	missense variant	-	NC_000008.11:g.37839615G>T	ExAC,gnomAD
rs755232703	p.Gln836His	missense variant	-	NC_000008.11:g.37839619G>C	ExAC,gnomAD
rs781535229	p.Ala837Val	missense variant	-	NC_000008.11:g.37839621C>T	ExAC,TOPMed,gnomAD
rs781535229	p.Ala837Glu	missense variant	-	NC_000008.11:g.37839621C>A	ExAC,TOPMed,gnomAD
rs1272395797	p.Val838Gly	missense variant	-	NC_000008.11:g.37840122T>G	gnomAD
rs1305775305	p.Gly839Asp	missense variant	-	NC_000008.11:g.37840125G>A	gnomAD
NCI-TCGA novel	p.Leu842Val	missense variant	-	NC_000008.11:g.37840133C>G	NCI-TCGA
rs1245296301	p.Ser845Tyr	missense variant	-	NC_000008.11:g.37840143C>A	gnomAD
COSM5299872	p.Leu847Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37840148C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr849Arg	missense variant	-	NC_000008.11:g.37840155C>G	NCI-TCGA
rs772675064	p.Thr849Met	missense variant	-	NC_000008.11:g.37840155C>T	ExAC,gnomAD
rs766008035	p.Leu851Phe	missense variant	-	NC_000008.11:g.37840160C>T	ExAC,TOPMed,gnomAD
rs144437753	p.Gly854Ala	missense variant	-	NC_000008.11:g.37840170G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs759091895	p.Val855Leu	missense variant	-	NC_000008.11:g.37840172G>T	ExAC,TOPMed,gnomAD
rs759091895	p.Val855Met	missense variant	-	NC_000008.11:g.37840172G>A	ExAC,TOPMed,gnomAD
rs767967328	p.Ala857Val	missense variant	-	NC_000008.11:g.37840179C>T	ExAC,TOPMed,gnomAD
rs1383182850	p.Arg858Ter	stop gained	-	NC_000008.11:g.37840181C>T	gnomAD
rs377055388	p.Arg858Gln	missense variant	-	NC_000008.11:g.37840182G>A	ExAC,TOPMed,gnomAD
rs778113007	p.Val859Met	missense variant	-	NC_000008.11:g.37840184G>A	ExAC
rs754221491	p.His861Leu	missense variant	-	NC_000008.11:g.37840191A>T	ExAC,gnomAD
rs754221491	p.His861Arg	missense variant	-	NC_000008.11:g.37840191A>G	ExAC,gnomAD
rs183489099	p.Lys862Glu	missense variant	-	NC_000008.11:g.37840193A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1258744368	p.Glu863Ala	missense variant	-	NC_000008.11:g.37840197A>C	gnomAD
rs267601912	p.Glu863Lys	missense variant	-	NC_000008.11:g.37840196G>A	ExAC,gnomAD
rs772301014	p.Thr865Ile	missense variant	-	NC_000008.11:g.37840203C>T	ExAC,TOPMed,gnomAD
rs907234284	p.Trp866Ser	missense variant	-	NC_000008.11:g.37840206G>C	TOPMed
rs1443346346	p.Ala868Val	missense variant	-	NC_000008.11:g.37840212C>T	gnomAD
rs748099795	p.Ala868Thr	missense variant	-	NC_000008.11:g.37840211G>A	ExAC,gnomAD
rs1240840102	p.Pro869Leu	missense variant	-	NC_000008.11:g.37840215C>T	gnomAD
rs1240840102	p.Pro869His	missense variant	-	NC_000008.11:g.37840215C>A	gnomAD
rs145530012	p.Pro869Thr	missense variant	-	NC_000008.11:g.37840214C>A	ESP,ExAC,gnomAD
rs148423972	p.Pro870Thr	missense variant	-	NC_000008.11:g.37840217C>A	ESP,ExAC,TOPMed,gnomAD
rs749083382	p.Pro870Leu	missense variant	-	NC_000008.11:g.37840218C>T	ExAC
rs1427930078	p.Pro871Ala	missense variant	-	NC_000008.11:g.37840220C>G	gnomAD
rs773911451	p.Pro871Leu	missense variant	-	NC_000008.11:g.37840221C>T	ExAC,TOPMed,gnomAD
rs773911451	p.Pro871Arg	missense variant	-	NC_000008.11:g.37840221C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro871Ser	missense variant	-	NC_000008.11:g.37840220C>T	NCI-TCGA
rs775911317	p.Glu873Ter	stop gained	-	NC_000008.11:g.37840226G>T	ExAC,gnomAD
rs761168688	p.Asp875Glu	missense variant	-	NC_000008.11:g.37840234C>A	ExAC,TOPMed,gnomAD
rs764568155	p.Pro876Ser	missense variant	-	NC_000008.11:g.37840235C>T	ExAC,gnomAD
rs751441114	p.Ala877Asp	missense variant	-	NC_000008.11:g.37840239C>A	TOPMed,gnomAD
rs371552298	p.Ala877Thr	missense variant	-	NC_000008.11:g.37840238G>A	ExAC,TOPMed,gnomAD
rs751441114	p.Ala877Val	missense variant	-	NC_000008.11:g.37840239C>T	TOPMed,gnomAD
COSM1319704	p.Pro879Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37840245C>T	NCI-TCGA Cosmic
rs750687452	p.Pro883Leu	missense variant	-	NC_000008.11:g.37840257C>T	ExAC,TOPMed,gnomAD
rs1449262122	p.Met884Val	missense variant	-	NC_000008.11:g.37840259A>G	gnomAD
rs780275066	p.Leu885Phe	missense variant	-	NC_000008.11:g.37840262C>T	ExAC,gnomAD
rs757191897	p.Arg886Trp	missense variant	-	NC_000008.11:g.37840265C>T	ExAC,gnomAD
rs756095204	p.Arg886Gln	missense variant	-	NC_000008.11:g.37840266G>A	ExAC,TOPMed,gnomAD
rs749200916	p.Tyr888His	missense variant	-	NC_000008.11:g.37840764T>C	ExAC,gnomAD
rs1210807569	p.Leu889Phe	missense variant	-	NC_000008.11:g.37840769G>C	TOPMed
NCI-TCGA novel	p.Leu889Val	missense variant	-	NC_000008.11:g.37840767T>G	NCI-TCGA
rs142650653	p.Ala891Pro	missense variant	-	NC_000008.11:g.37840773G>C	ESP,ExAC,TOPMed,gnomAD
rs142650653	p.Ala891Thr	missense variant	-	NC_000008.11:g.37840773G>A	ESP,ExAC,TOPMed,gnomAD
rs142650653	p.Ala891Ser	missense variant	-	NC_000008.11:g.37840773G>T	ESP,ExAC,TOPMed,gnomAD
COSM3899899	p.Gly893Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37840779G>T	NCI-TCGA Cosmic
rs746482373	p.Ile897Phe	missense variant	-	NC_000008.11:g.37840791A>T	ExAC,gnomAD
rs1425743224	p.Ile897Thr	missense variant	-	NC_000008.11:g.37840792T>C	gnomAD
rs1446373779	p.Thr902Ala	missense variant	-	NC_000008.11:g.37840806A>G	gnomAD
NCI-TCGA novel	p.Val905Ala	missense variant	-	NC_000008.11:g.37840816T>C	NCI-TCGA
rs369548076	p.Asn906Asp	missense variant	-	NC_000008.11:g.37840818A>G	ESP,ExAC,TOPMed,gnomAD
rs1402694868	p.Asn909Ser	missense variant	-	NC_000008.11:g.37840828A>G	gnomAD
rs751849563	p.Arg911Gln	missense variant	-	NC_000008.11:g.37840834G>A	ExAC,gnomAD
rs751849563	p.Arg911Pro	missense variant	-	NC_000008.11:g.37840834G>C	ExAC,gnomAD
rs751849563	p.Arg911Leu	missense variant	-	NC_000008.11:g.37840834G>T	ExAC,gnomAD
rs763448627	p.Arg911Trp	missense variant	-	NC_000008.11:g.37840833C>T	ExAC,gnomAD
rs201558463	p.Asp912His	missense variant	-	NC_000008.11:g.37840836G>C	1000Genomes,ExAC,gnomAD
rs1325995074	p.Asp912Glu	missense variant	-	NC_000008.11:g.37840838C>A	gnomAD
rs752892514	p.Ser914Arg	missense variant	-	NC_000008.11:g.37840844C>G	ExAC,TOPMed,gnomAD
rs757131775	p.Pro915Ala	missense variant	-	NC_000008.11:g.37840845C>G	ExAC,gnomAD
rs757131775	p.Pro915Thr	missense variant	-	NC_000008.11:g.37840845C>A	ExAC,gnomAD
rs1224586217	p.Pro915Leu	missense variant	-	NC_000008.11:g.37840846C>T	gnomAD
rs757131775	p.Pro915Ser	missense variant	-	NC_000008.11:g.37840845C>T	ExAC,gnomAD
rs778362084	p.Val920Gly	missense variant	-	NC_000008.11:g.37841097T>G	ExAC,gnomAD
rs1356885209	p.Arg922Cys	missense variant	-	NC_000008.11:g.37841102C>T	TOPMed
rs370345639	p.Arg922His	missense variant	-	NC_000008.11:g.37841103G>A	ESP,ExAC,TOPMed,gnomAD
rs370345639	p.Arg922Leu	missense variant	-	NC_000008.11:g.37841103G>T	ESP,ExAC,TOPMed,gnomAD
rs141716507	p.Ser924Arg	missense variant	-	NC_000008.11:g.37841110C>A	ESP,ExAC,TOPMed,gnomAD
rs141716507	p.Ser924Arg	missense variant	-	NC_000008.11:g.37841110C>G	ESP,ExAC,TOPMed,gnomAD
rs1300957890	p.Gly926Asp	missense variant	-	NC_000008.11:g.37841115G>A	gnomAD
NCI-TCGA novel	p.Ala927Thr	missense variant	-	NC_000008.11:g.37841117G>A	NCI-TCGA
COSM3374907	p.Ala927Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37841118C>T	NCI-TCGA Cosmic
rs1219402193	p.Phe928Leu	missense variant	-	NC_000008.11:g.37841120T>C	gnomAD
rs1313171967	p.Tyr929Cys	missense variant	-	NC_000008.11:g.37841124A>G	gnomAD
rs1306025645	p.Tyr929Asn	missense variant	-	NC_000008.11:g.37841123T>A	gnomAD
rs150449738	p.Ile930Asn	missense variant	-	NC_000008.11:g.37841127T>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro931His	missense variant	-	NC_000008.11:g.37841130C>A	NCI-TCGA
rs1242316929	p.Pro931Thr	missense variant	-	NC_000008.11:g.37841129C>A	gnomAD
rs746295606	p.Val932Ala	missense variant	-	NC_000008.11:g.37841133T>C	ExAC,gnomAD
rs1431704568	p.Ile935Met	missense variant	-	NC_000008.11:g.37841143T>G	TOPMed
rs1347202257	p.Ile938Phe	missense variant	-	NC_000008.11:g.37841150A>T	TOPMed
NCI-TCGA novel	p.Ile938Asn	missense variant	-	NC_000008.11:g.37841151T>A	NCI-TCGA
rs138242573	p.Trp940Cys	missense variant	-	NC_000008.11:g.37841158G>C	ESP,ExAC,gnomAD
rs1489591218	p.Ile941Thr	missense variant	-	NC_000008.11:g.37841160T>C	gnomAD
rs760624362	p.Tyr942Cys	missense variant	-	NC_000008.11:g.37841163A>G	ExAC,TOPMed,gnomAD
rs776758784	p.Phe943Cys	missense variant	-	NC_000008.11:g.37841166T>G	ExAC,gnomAD
rs762863482	p.Cys945Tyr	missense variant	-	NC_000008.11:g.37841172G>A	ExAC,TOPMed,gnomAD
rs201911857	p.Ala946Ser	missense variant	-	NC_000008.11:g.37841174G>T	1000Genomes,ExAC,gnomAD
COSM1456834	p.Ala946Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37841175C>T	NCI-TCGA Cosmic
rs754829886	p.Gly947Arg	missense variant	-	NC_000008.11:g.37841177G>A	ExAC,gnomAD
rs755614655	p.Arg949Cys	missense variant	-	NC_000008.11:g.37841183C>T	ExAC,TOPMed,gnomAD
rs755614655	p.Arg949Gly	missense variant	-	NC_000008.11:g.37841183C>G	ExAC,TOPMed,gnomAD
rs1041754275	p.Arg951Trp	missense variant	-	NC_000008.11:g.37841189C>T	TOPMed
rs748868656	p.Arg951Pro	missense variant	-	NC_000008.11:g.37841190G>C	ExAC,TOPMed,gnomAD
rs748868656	p.Arg951Gln	missense variant	-	NC_000008.11:g.37841190G>A	ExAC,TOPMed,gnomAD
rs7008199	p.Gly952Asp	missense variant	-	NC_000008.11:g.37841193G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1460440453	p.Gly952Ser	missense variant	-	NC_000008.11:g.37841192G>A	TOPMed,gnomAD
rs779516234	p.Pro953Leu	missense variant	-	NC_000008.11:g.37841196C>T	ExAC,TOPMed,gnomAD
rs1041274486	p.Leu954Arg	missense variant	-	NC_000008.11:g.37841199T>G	TOPMed
COSM6181008	p.Pro958His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37841211C>A	NCI-TCGA Cosmic
rs201369862	p.Ala960Glu	missense variant	-	NC_000008.11:g.37841217C>A	1000Genomes,ExAC,gnomAD
rs201369862	p.Ala960Val	missense variant	-	NC_000008.11:g.37841217C>T	1000Genomes,ExAC,gnomAD
rs113694495	p.Gly961Asp	missense variant	-	NC_000008.11:g.37841220G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1250938162	p.Ser963Ile	missense variant	-	NC_000008.11:g.37841226G>T	TOPMed,gnomAD
rs776668838	p.Arg964Trp	missense variant	-	NC_000008.11:g.37841228A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg964Gly	missense variant	-	NC_000008.11:g.37841228A>G	NCI-TCGA
rs1180920479	p.Arg964Lys	missense variant	-	NC_000008.11:g.37841229G>A	gnomAD
COSM3779202	p.Arg964Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37841230G>T	NCI-TCGA Cosmic
rs1363539992	p.Leu967Pro	missense variant	-	NC_000008.11:g.37841238T>C	gnomAD
NCI-TCGA novel	p.Glu968Ter	stop gained	-	NC_000008.11:g.37841240G>T	NCI-TCGA
rs376958708	p.Ala969Gly	missense variant	-	NC_000008.11:g.37841244C>G	ESP,ExAC,TOPMed,gnomAD
rs1180559166	p.Ala969Ser	missense variant	-	NC_000008.11:g.37841243G>T	gnomAD
rs376958708	p.Ala969Glu	missense variant	-	NC_000008.11:g.37841244C>A	ESP,ExAC,TOPMed,gnomAD
rs1456111888	p.Glu972Gly	missense variant	-	NC_000008.11:g.37841253A>G	gnomAD
rs1466828232	p.Gly975Ala	missense variant	-	NC_000008.11:g.37841262G>C	TOPMed,gnomAD
rs1466828232	p.Gly975Asp	missense variant	-	NC_000008.11:g.37841262G>A	TOPMed,gnomAD
rs1331798669	p.Ser976Pro	missense variant	-	NC_000008.11:g.37841264T>C	gnomAD
rs530712014	p.Thr977Ser	missense variant	-	NC_000008.11:g.37841268C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs201954593	p.Arg978Thr	missense variant	-	NC_000008.11:g.37841271G>C	1000Genomes,ExAC,gnomAD
COSM3929559	p.Arg978Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37841272G>T	NCI-TCGA Cosmic
rs1272313142	p.Gly983Val	missense variant	-	NC_000008.11:g.37841286G>T	gnomAD
rs1228938865	p.Gly983Ser	missense variant	-	NC_000008.11:g.37841285G>A	TOPMed,gnomAD
rs1272313142	p.Gly983Asp	missense variant	-	NC_000008.11:g.37841286G>A	gnomAD
rs1429852243	p.Pro984Leu	missense variant	-	NC_000008.11:g.37841289C>T	TOPMed
rs752505630	p.Leu985Phe	missense variant	-	NC_000008.11:g.37841291C>T	ExAC,gnomAD
COSM5188986	p.Leu985ProPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.37841292T>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu993Phe	missense variant	-	NC_000008.11:g.37841315C>T	NCI-TCGA
rs1461145040	p.Ala994Val	missense variant	-	NC_000008.11:g.37841319C>T	TOPMed,gnomAD
rs1259122253	p.Ala994Ser	missense variant	-	NC_000008.11:g.37841318G>T	gnomAD
rs1461145040	p.Ala994Gly	missense variant	-	NC_000008.11:g.37841319C>G	TOPMed,gnomAD
rs1469350007	p.Thr995Ser	missense variant	-	NC_000008.11:g.37841322C>G	gnomAD
rs763890538	p.Gly996Arg	missense variant	-	NC_000008.11:g.37841324G>A	ExAC,gnomAD
rs753371201	p.Gly996Val	missense variant	-	NC_000008.11:g.37841325G>T	ExAC,TOPMed,gnomAD
rs756859682	p.Ser997Arg	missense variant	-	NC_000008.11:g.37841329C>G	ExAC,gnomAD
rs912341043	p.Ser997Thr	missense variant	-	NC_000008.11:g.37841328G>C	TOPMed
rs912341043	p.Ser997Asn	missense variant	-	NC_000008.11:g.37841328G>A	TOPMed
rs942415743	p.Ala998Gly	missense variant	-	NC_000008.11:g.37841331C>G	TOPMed,gnomAD
rs1420753051	p.Ala998Pro	missense variant	-	NC_000008.11:g.37841330G>C	TOPMed,gnomAD
rs942415743	p.Ala998Val	missense variant	-	NC_000008.11:g.37841331C>T	TOPMed,gnomAD
rs142683741	p.Arg999Pro	missense variant	-	NC_000008.11:g.37841334G>C	ESP,ExAC,TOPMed,gnomAD
rs142683741	p.Arg999Gln	missense variant	-	NC_000008.11:g.37841334G>A	ESP,ExAC,TOPMed,gnomAD
rs747422034	p.Thr1002Pro	missense variant	-	NC_000008.11:g.37841342A>C	ExAC,gnomAD
rs1359693648	p.Thr1002Met	missense variant	-	NC_000008.11:g.37841343C>T	TOPMed,gnomAD
rs768832473	p.Pro1003Thr	missense variant	-	NC_000008.11:g.37841345C>A	ExAC,gnomAD
rs1338442020	p.Gly1004Glu	missense variant	-	NC_000008.11:g.37841349G>A	gnomAD
rs1220751594	p.Pro1005Ser	missense variant	-	NC_000008.11:g.37841351C>T	gnomAD
rs748174380	p.Pro1006Arg	missense variant	-	NC_000008.11:g.37841355C>G	ExAC,gnomAD
rs1323342163	p.Pro1006Ser	missense variant	-	NC_000008.11:g.37841354C>T	gnomAD
rs769927522	p.Glu1007Ala	missense variant	-	NC_000008.11:g.37841358A>C	ExAC,gnomAD
rs774085335	p.Asp1008Asn	missense variant	-	NC_000008.11:g.37841360G>A	ExAC,gnomAD
rs1225288397	p.Asp1010Asn	missense variant	-	NC_000008.11:g.37841366G>A	TOPMed,gnomAD
rs369840363	p.Asp1010Ala	missense variant	-	NC_000008.11:g.37841367A>C	ESP,ExAC,gnomAD
rs369840363	p.Asp1010Val	missense variant	-	NC_000008.11:g.37841367A>T	ESP,ExAC,gnomAD
rs775407688	p.Asp1010Glu	missense variant	-	NC_000008.11:g.37841368C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1011Asn	missense variant	-	NC_000008.11:g.37841370G>A	NCI-TCGA
rs760589310	p.Leu1012Phe	missense variant	-	NC_000008.11:g.37841372C>T	ExAC,gnomAD
rs763801831	p.Tyr1013Ser	missense variant	-	NC_000008.11:g.37841376A>C	ExAC,TOPMed,gnomAD
rs1476808363	p.Ser1014Phe	missense variant	-	NC_000008.11:g.37841379C>T	gnomAD
rs761350049	p.Pro1015Leu	missense variant	-	NC_000008.11:g.37841382C>T	ExAC,gnomAD
rs113275053	p.Gly1016Arg	missense variant	-	NC_000008.11:g.37841384G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs113275053	p.Gly1016Arg	missense variant	-	NC_000008.11:g.37841384G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1358750536	p.Gly1016Glu	missense variant	-	NC_000008.11:g.37841385G>A	TOPMed,gnomAD
rs1430994625	p.Val1017Phe	missense variant	-	NC_000008.11:g.37841387G>T	TOPMed
rs1401903888	p.Ala1021Val	missense variant	-	NC_000008.11:g.37841400C>T	gnomAD
rs755354731	p.Val1023Leu	missense variant	-	NC_000008.11:g.37841405G>T	ExAC,TOPMed,gnomAD
rs755354731	p.Val1023Met	missense variant	-	NC_000008.11:g.37841405G>A	ExAC,TOPMed,gnomAD
rs568141708	p.Thr1024Ser	missense variant	-	NC_000008.11:g.37841409C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1223782803	p.Tyr1029His	missense variant	-	NC_000008.11:g.37841423T>C	gnomAD
rs1284464590	p.Leu1030Phe	missense variant	-	NC_000008.11:g.37841428G>T	gnomAD
rs769973299	p.Ala1031Thr	missense variant	-	NC_000008.11:g.37841429G>A	ExAC,gnomAD
rs777899295	p.Met1032Ile	missense variant	-	NC_000008.11:g.37841434G>T	ExAC,TOPMed,gnomAD
rs777899295	p.Met1032Ile	missense variant	-	NC_000008.11:g.37841434G>A	ExAC,TOPMed,gnomAD
rs749380224	p.Ala1034Thr	missense variant	-	NC_000008.11:g.37841438G>A	ExAC,TOPMed,gnomAD
rs772018113	p.Ala1037Val	missense variant	-	NC_000008.11:g.37841448C>T	ExAC,gnomAD
rs547298880	p.Ala1037Thr	missense variant	-	NC_000008.11:g.37841447G>A	gnomAD
rs547298880	p.Ala1037Ser	missense variant	-	NC_000008.11:g.37841447G>T	gnomAD
rs775602160	p.Ala1039Val	missense variant	-	NC_000008.11:g.37841454C>T	ExAC,gnomAD
rs756174004	p.Val1040Ala	missense variant	-	NC_000008.11:g.37841457T>C	ExAC,TOPMed,gnomAD
rs756174004	p.Val1040Gly	missense variant	-	NC_000008.11:g.37841457T>G	ExAC,TOPMed,gnomAD
rs1265308630	p.Val1040Met	missense variant	-	NC_000008.11:g.37841456G>A	TOPMed
rs1420195777	p.Ser1041Cys	missense variant	-	NC_000008.11:g.37841460C>G	gnomAD
rs139962707	p.Arg1043Cys	missense variant	-	NC_000008.11:g.37841465C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1046Ser	missense variant	-	NC_000008.11:g.37841474C>T	NCI-TCGA
rs200293123	p.Arg1047Trp	missense variant	-	NC_000008.11:g.37841477C>T	1000Genomes,gnomAD
rs764845625	p.Arg1047Pro	missense variant	-	NC_000008.11:g.37841478G>C	ExAC,TOPMed,gnomAD
rs764845625	p.Arg1047Gln	missense variant	-	NC_000008.11:g.37841478G>A	ExAC,TOPMed,gnomAD
rs749917604	p.Val1048Leu	missense variant	-	NC_000008.11:g.37841480G>C	ExAC,gnomAD
rs1379802397	p.Cys1050Arg	missense variant	-	NC_000008.11:g.37841486T>C	gnomAD
rs1290410753	p.Ser1051Arg	missense variant	-	NC_000008.11:g.37841491C>G	gnomAD
rs141777717	p.Cys1052Ser	missense variant	-	NC_000008.11:g.37841493G>C	ESP,ExAC,TOPMed,gnomAD
rs1290122998	p.Tyr1054His	missense variant	-	NC_000008.11:g.37841498T>C	gnomAD
COSM3899900	p.Tyr1054Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37841499A>G	NCI-TCGA Cosmic
rs752071465	p.Val1056Leu	missense variant	-	NC_000008.11:g.37841504G>C	ExAC,TOPMed,gnomAD
rs752071465	p.Val1056Met	missense variant	-	NC_000008.11:g.37841504G>A	ExAC,TOPMed,gnomAD
rs1239705191	p.Ala1057Val	missense variant	-	NC_000008.11:g.37841508C>T	gnomAD
rs1202308149	p.Ser1059Phe	missense variant	-	NC_000008.11:g.37841514C>T	gnomAD
rs755266710	p.Leu1061Val	missense variant	-	NC_000008.11:g.37841519C>G	ExAC,gnomAD
rs767859049	p.Gly1062Ser	missense variant	-	NC_000008.11:g.37841522G>A	ExAC,TOPMed,gnomAD
rs1048315197	p.Leu1063Ile	missense variant	-	NC_000008.11:g.37841525C>A	TOPMed
COSM1496912	p.Leu1063His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37841526T>A	NCI-TCGA Cosmic
rs753115689	p.Phe1064Cys	missense variant	-	NC_000008.11:g.37841529T>G	ExAC,gnomAD
rs1391749637	p.Val1065Leu	missense variant	-	NC_000008.11:g.37841531G>C	TOPMed,gnomAD
rs374098613	p.Phe1066Leu	missense variant	-	NC_000008.11:g.37841534T>C	ESP,gnomAD
rs1430569333	p.Thr1067Ser	missense variant	-	NC_000008.11:g.37841537A>T	gnomAD
rs1329734120	p.His1068Gln	missense variant	-	NC_000008.11:g.37841542C>G	gnomAD
rs1402830241	p.His1069Tyr	missense variant	-	NC_000008.11:g.37841543C>T	gnomAD
rs1448236587	p.His1069Arg	missense variant	-	NC_000008.11:g.37841544A>G	TOPMed,gnomAD
rs1161057086	p.Cys1070Gly	missense variant	-	NC_000008.11:g.37841546T>G	TOPMed
rs1338228751	p.Arg1072Gly	missense variant	-	NC_000008.11:g.37841552A>G	TOPMed,gnomAD
rs1249746713	p.Arg1072Lys	missense variant	-	NC_000008.11:g.37841553G>A	TOPMed
rs958810002	p.Val1076Ala	missense variant	-	NC_000008.11:g.37841565T>C	TOPMed
rs958810002	p.Val1076Gly	missense variant	-	NC_000008.11:g.37841565T>G	TOPMed
rs777902269	p.Arg1077Lys	missense variant	-	NC_000008.11:g.37841568G>A	ExAC,TOPMed,gnomAD
rs749350802	p.Trp1080Ter	stop gained	-	NC_000008.11:g.37841577G>A	ExAC,TOPMed,gnomAD
rs376728910	p.Arg1081Cys	missense variant	-	NC_000008.11:g.37841579C>T	ESP,ExAC,TOPMed,gnomAD
rs376728910	p.Arg1081Ser	missense variant	-	NC_000008.11:g.37841579C>A	ESP,ExAC,TOPMed,gnomAD
rs868836566	p.Ala1082Ser	missense variant	-	NC_000008.11:g.37841582G>T	gnomAD
rs868836566	p.Ala1082Thr	missense variant	-	NC_000008.11:g.37841582G>A	gnomAD
rs199842189	p.Cys1084Ser	missense variant	-	NC_000008.11:g.37841588T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199842189	p.Cys1084Gly	missense variant	-	NC_000008.11:g.37841588T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776543886	p.Pro1085Arg	missense variant	-	NC_000008.11:g.37841592C>G	ExAC,gnomAD
rs1462691443	p.Pro1085Ala	missense variant	-	NC_000008.11:g.37841591C>G	gnomAD
rs1477625269	p.Pro1086Ser	missense variant	-	NC_000008.11:g.37841594C>T	gnomAD
rs747933682	p.Pro1086Arg	missense variant	-	NC_000008.11:g.37841595C>G	ExAC,TOPMed,gnomAD
rs769445882	p.Ala1087Val	missense variant	-	NC_000008.11:g.37841598C>T	ExAC,TOPMed,gnomAD
rs1400734808	p.Ala1090Glu	missense variant	-	NC_000008.11:g.37841607C>A	gnomAD
rs762464508	p.Ala1090Pro	missense variant	-	NC_000008.11:g.37841606G>C	ExAC,TOPMed,gnomAD
rs762464508	p.Ala1090Thr	missense variant	-	NC_000008.11:g.37841606G>A	ExAC,TOPMed,gnomAD
rs13267286	p.Ala1091Asp	missense variant	-	NC_000008.11:g.37841610C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs13267286	p.Ala1091Val	missense variant	-	NC_000008.11:g.37841610C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1216485029	p.His1093Arg	missense variant	-	NC_000008.11:g.37841616A>G	gnomAD
rs760019897	p.Ala1094Ser	missense variant	-	NC_000008.11:g.37841618G>T	ExAC,TOPMed,gnomAD
rs1290351323	p.Ala1094Gly	missense variant	-	NC_000008.11:g.37841619C>G	TOPMed
rs1253981709	p.Arg1097Pro	missense variant	-	NC_000008.11:g.37841628G>C	gnomAD
rs1253981709	p.Arg1097Leu	missense variant	-	NC_000008.11:g.37841628G>T	gnomAD
rs956818746	p.Ala1098Val	missense variant	-	NC_000008.11:g.37841631C>T	TOPMed,gnomAD
rs1200906470	p.Leu1099Pro	missense variant	-	NC_000008.11:g.37841634T>C	gnomAD
rs1257016904	p.Pro1100Ser	missense variant	-	NC_000008.11:g.37841636C>T	gnomAD
rs753078704	p.Ala1101Val	missense variant	-	NC_000008.11:g.37841640C>T	ExAC,TOPMed,gnomAD
rs1426019866	p.Ala1102Thr	missense variant	-	NC_000008.11:g.37841642G>A	TOPMed,gnomAD
rs756468268	p.Ala1102Val	missense variant	-	NC_000008.11:g.37841643C>T	ExAC,gnomAD
rs1175806640	p.Ala1103Thr	missense variant	-	NC_000008.11:g.37841645G>A	gnomAD
rs1175806640	p.Ala1103Ser	missense variant	-	NC_000008.11:g.37841645G>T	gnomAD
rs754021456	p.Glu1104Lys	missense variant	-	NC_000008.11:g.37841648G>A	ExAC,TOPMed,gnomAD
rs754021456	p.Glu1104Gln	missense variant	-	NC_000008.11:g.37841648G>C	ExAC,TOPMed,gnomAD
rs754021456	p.Glu1104Ter	stop gained	-	NC_000008.11:g.37841648G>T	ExAC,TOPMed,gnomAD
rs779131291	p.Gly1106Cys	missense variant	-	NC_000008.11:g.37841654G>T	ExAC,TOPMed,gnomAD
rs779131291	p.Gly1106Ser	missense variant	-	NC_000008.11:g.37841654G>A	ExAC,TOPMed,gnomAD
rs779131291	p.Gly1106Arg	missense variant	-	NC_000008.11:g.37841654G>C	ExAC,TOPMed,gnomAD
rs1299447174	p.Ser1107Thr	missense variant	-	NC_000008.11:g.37841657T>A	gnomAD
rs746003915	p.Pro1108Leu	missense variant	-	NC_000008.11:g.37841661C>T	ExAC,TOPMed,gnomAD
rs541187375	p.Val1109Leu	missense variant	-	NC_000008.11:g.37841663G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs541187375	p.Val1109Met	missense variant	-	NC_000008.11:g.37841663G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs781307380	p.Phe1110Leu	missense variant	-	NC_000008.11:g.37841668C>A	ExAC
rs769489251	p.Gly1111Val	missense variant	-	NC_000008.11:g.37841670G>T	ExAC,gnomAD
rs747927631	p.Gly1111Arg	missense variant	-	NC_000008.11:g.37841669G>C	ExAC,gnomAD
rs769489251	p.Gly1111Glu	missense variant	-	NC_000008.11:g.37841670G>A	ExAC,gnomAD
rs747927631	p.Gly1111Arg	missense variant	-	NC_000008.11:g.37841669G>A	ExAC,gnomAD
rs748884279	p.Glu1112Ter	stop gained	-	NC_000008.11:g.37841672G>T	ExAC,gnomAD
rs770625350	p.Gly1113Val	missense variant	-	NC_000008.11:g.37841676G>T	ExAC,TOPMed
rs1047671964	p.Pro1114Ala	missense variant	-	NC_000008.11:g.37841678C>G	TOPMed,gnomAD
rs1427075467	p.Pro1114Leu	missense variant	-	NC_000008.11:g.37841679C>T	TOPMed
rs1047671964	p.Pro1114Ser	missense variant	-	NC_000008.11:g.37841678C>T	TOPMed,gnomAD
rs759090049	p.Pro1115His	missense variant	-	NC_000008.11:g.37841682C>A	ExAC,gnomAD
rs759090049	p.Pro1115Arg	missense variant	-	NC_000008.11:g.37841682C>G	ExAC,gnomAD
rs1265793098	p.Pro1115Ser	missense variant	-	NC_000008.11:g.37841681C>T	gnomAD
rs1380251423	p.Leu1117Phe	missense variant	-	NC_000008.11:g.37841687C>T	gnomAD
rs1223713948	p.Lys1118Arg	missense variant	-	NC_000008.11:g.37841691A>G	TOPMed
rs1418363718	p.Lys1118Asn	missense variant	-	NC_000008.11:g.37841692G>C	gnomAD
rs1360541916	p.Pro1121Leu	missense variant	-	NC_000008.11:g.37841700C>T	gnomAD
rs767973506	p.Ser1122Gly	missense variant	-	NC_000008.11:g.37841702A>G	ExAC,gnomAD
rs1003522135	p.Gly1123Cys	missense variant	-	NC_000008.11:g.37841705G>T	TOPMed,gnomAD
rs1003522135	p.Gly1123Arg	missense variant	-	NC_000008.11:g.37841705G>C	TOPMed,gnomAD
rs1308193330	p.Ser1124Gly	missense variant	-	NC_000008.11:g.37841708A>G	gnomAD
rs1290218812	p.Ser1125Gly	missense variant	-	NC_000008.11:g.37841711A>G	TOPMed
rs1242162355	p.His1127Arg	missense variant	-	NC_000008.11:g.37841718A>G	gnomAD
rs1374579875	p.His1127Tyr	missense variant	-	NC_000008.11:g.37841717C>T	gnomAD
rs1288327066	p.Pro1128Leu	missense variant	-	NC_000008.11:g.37841721C>T	gnomAD
rs376732365	p.Cys1134Tyr	missense variant	-	NC_000008.11:g.37841739G>A	ExAC,TOPMed,gnomAD
rs1271545212	p.Lys1135Glu	missense variant	-	NC_000008.11:g.37841741A>G	TOPMed
rs1224743797	p.Leu1136Phe	missense variant	-	NC_000008.11:g.37841744C>T	TOPMed
rs1263881654	p.Thr1137Ile	missense variant	-	NC_000008.11:g.37841748C>T	gnomAD
rs754298652	p.Gln1143Arg	missense variant	-	NC_000008.11:g.37841766A>G	ExAC,gnomAD
rs111828443	p.Val1146Gly	missense variant	-	NC_000008.11:g.37841775T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs111828443	p.Val1146Ala	missense variant	-	NC_000008.11:g.37841775T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765595520	p.Ala1149Glu	missense variant	-	NC_000008.11:g.37841784C>A	ExAC,TOPMed,gnomAD
rs765595520	p.Ala1149Gly	missense variant	-	NC_000008.11:g.37841784C>G	ExAC,TOPMed,gnomAD
rs1397352522	p.Ala1149Pro	missense variant	-	NC_000008.11:g.37841783G>C	TOPMed
rs765595520	p.Ala1149Val	missense variant	-	NC_000008.11:g.37841784C>T	ExAC,TOPMed,gnomAD
rs1200510742	p.Gly1150Arg	missense variant	-	NC_000008.11:g.37841786G>C	TOPMed
rs1267360006	p.Ala1151Val	missense variant	-	NC_000008.11:g.37841790C>T	TOPMed
rs1330447282	p.Ala1151Thr	missense variant	-	NC_000008.11:g.37841789G>A	gnomAD
rs1448997725	p.Ala1152Val	missense variant	-	NC_000008.11:g.37841793C>T	gnomAD
rs1274443278	p.Gly1155Arg	missense variant	-	NC_000008.11:g.37841801G>A	TOPMed
rs1310617659	p.Gly1157Arg	missense variant	-	NC_000008.11:g.37841807G>A	gnomAD
rs1193589254	p.Glu1158Lys	missense variant	-	NC_000008.11:g.37841810G>A	TOPMed
rs1323735168	p.Pro1159Leu	missense variant	-	NC_000008.11:g.37841814C>T	gnomAD
rs1257884306	p.Ala1162Val	missense variant	-	NC_000008.11:g.37841823C>T	TOPMed,gnomAD
rs1257884306	p.Ala1162Glu	missense variant	-	NC_000008.11:g.37841823C>A	TOPMed,gnomAD
rs1257884306	p.Ala1162Gly	missense variant	-	NC_000008.11:g.37841823C>G	TOPMed,gnomAD
rs1031241896	p.Gly1163Asp	missense variant	-	NC_000008.11:g.37841826G>A	TOPMed,gnomAD
rs756140326	p.Arg1165Gln	missense variant	-	NC_000008.11:g.37841832G>A	ExAC,gnomAD
rs1213444109	p.Leu1168Phe	missense variant	-	NC_000008.11:g.37841840C>T	gnomAD
rs1055225965	p.Ala1169Val	missense variant	-	NC_000008.11:g.37841844C>T	TOPMed
rs777414593	p.Ala1169Thr	missense variant	-	NC_000008.11:g.37841843G>A	ExAC,gnomAD
rs1055225965	p.Ala1169Asp	missense variant	-	NC_000008.11:g.37841844C>A	TOPMed
rs749154139	p.His1170Tyr	missense variant	-	NC_000008.11:g.37841846C>T	ExAC,TOPMed,gnomAD
rs770543480	p.Arg1171Cys	missense variant	-	NC_000008.11:g.37841849C>T	ExAC,gnomAD
rs549085496	p.Arg1171His	missense variant	-	NC_000008.11:g.37841850G>A	gnomAD
rs1295008686	p.Asn1174Ser	missense variant	-	NC_000008.11:g.37841859A>G	TOPMed,gnomAD
rs1389747102	p.Asn1174Lys	missense variant	-	NC_000008.11:g.37841860C>G	TOPMed
rs1010651371	p.Val1176Met	missense variant	-	NC_000008.11:g.37841864G>A	TOPMed,gnomAD
rs1010651371	p.Val1176Leu	missense variant	-	NC_000008.11:g.37841864G>T	TOPMed,gnomAD
rs745338333	p.His1177Asn	missense variant	-	NC_000008.11:g.37841867C>A	ExAC,TOPMed,gnomAD
rs1172386010	p.His1178Tyr	missense variant	-	NC_000008.11:g.37841870C>T	TOPMed
rs145526357	p.Arg1180Gly	missense variant	-	NC_000008.11:g.37841876C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs931037129	p.Arg1181Gln	missense variant	-	NC_000008.11:g.37841880G>A	gnomAD
rs1234203209	p.Ala1182Val	missense variant	-	NC_000008.11:g.37841883C>T	gnomAD
rs769265984	p.His1183Arg	missense variant	-	NC_000008.11:g.37841886A>G	ExAC,TOPMed,gnomAD
rs1220082644	p.Arg1186Gln	missense variant	-	NC_000008.11:g.37841895G>A	TOPMed,gnomAD
rs1274100052	p.Lys1188Asn	missense variant	-	NC_000008.11:g.37841902G>T	gnomAD
rs1274100052	p.Lys1188Asn	missense variant	-	NC_000008.11:g.37841902G>C	gnomAD
rs999023591	p.Lys1188Glu	missense variant	-	NC_000008.11:g.37841900A>G	TOPMed
rs1442366259	p.Gly1189Ter	stop gained	-	NC_000008.11:g.37841903G>T	gnomAD
rs1208628336	p.His1190Gln	missense variant	-	NC_000008.11:g.37841908C>A	TOPMed,gnomAD
rs762298535	p.Ala1192Val	missense variant	-	NC_000008.11:g.37841913C>T	ExAC
rs1321007827	p.Ala1192Thr	missense variant	-	NC_000008.11:g.37841912G>A	TOPMed
rs1031943230	p.Gly1193Arg	missense variant	-	NC_000008.11:g.37841915G>A	TOPMed
rs1352663890	p.Glu1194Asp	missense variant	-	NC_000008.11:g.37841920G>T	TOPMed
rs1192548512	p.Glu1194Lys	missense variant	-	NC_000008.11:g.37841918G>A	TOPMed,gnomAD
rs1260620230	p.Ala1195Thr	missense variant	-	NC_000008.11:g.37841921G>A	gnomAD
rs75336000	p.Cys1196Tyr	missense variant	-	NC_000008.11:g.37841925G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1168289442	p.Gly1197Asp	missense variant	-	NC_000008.11:g.37841928G>A	gnomAD
rs998186089	p.Lys1198Gln	missense variant	-	NC_000008.11:g.37841930A>C	TOPMed
rs959394907	p.Asn1199Ser	missense variant	-	NC_000008.11:g.37841934A>G	TOPMed,gnomAD
rs959394907	p.Asn1199Ile	missense variant	-	NC_000008.11:g.37841934A>T	TOPMed,gnomAD
rs1412745473	p.Leu1201Val	missense variant	-	NC_000008.11:g.37841939C>G	gnomAD
rs1178133798	p.Leu1201Pro	missense variant	-	NC_000008.11:g.37841940T>C	gnomAD
rs1028767922	p.Lys1202Glu	missense variant	-	NC_000008.11:g.37841942A>G	TOPMed,gnomAD
rs1361008534	p.Gly1207Asp	missense variant	-	NC_000008.11:g.37841958G>A	TOPMed,gnomAD
rs1297600213	p.Ala1208Thr	missense variant	-	NC_000008.11:g.37841960G>A	gnomAD
rs1271200028	p.Ala1209Val	missense variant	-	NC_000008.11:g.37841964C>T	gnomAD
rs1402005064	p.Ala1209Thr	missense variant	-	NC_000008.11:g.37841963G>A	gnomAD
rs1344751252	p.Ala1211Thr	missense variant	-	NC_000008.11:g.37841969G>A	TOPMed,gnomAD
rs1344751252	p.Ala1211Ser	missense variant	-	NC_000008.11:g.37841969G>T	TOPMed,gnomAD
rs1218027910	p.Ala1211Val	missense variant	-	NC_000008.11:g.37841970C>T	gnomAD
rs1281327698	p.Leu1212Pro	missense variant	-	NC_000008.11:g.37841973T>C	gnomAD
rs1260324781	p.Leu1214Pro	missense variant	-	NC_000008.11:g.37841979T>C	gnomAD
rs1245977628	p.Ser1217Arg	missense variant	-	NC_000008.11:g.37841989C>A	gnomAD
rs1193436564	p.Ser1217Thr	missense variant	-	NC_000008.11:g.37841988G>C	TOPMed,gnomAD
rs1193436564	p.Ser1217Asn	missense variant	-	NC_000008.11:g.37841988G>A	TOPMed,gnomAD
rs1164384691	p.Glu1218Lys	missense variant	-	NC_000008.11:g.37841990G>A	gnomAD
rs1476900600	p.Glu1218Gly	missense variant	-	NC_000008.11:g.37841991A>G	gnomAD
rs1192901414	p.Glu1218Asp	missense variant	-	NC_000008.11:g.37841992G>C	gnomAD
rs1157391248	p.Ser1219Thr	missense variant	-	NC_000008.11:g.37841994G>C	TOPMed
rs954100649	p.Gly1220Val	missense variant	-	NC_000008.11:g.37841997G>T	TOPMed
rs1395633188	p.Gly1220Ser	missense variant	-	NC_000008.11:g.37841996G>A	TOPMed,gnomAD
rs1158125842	p.Ser1221Gly	missense variant	-	NC_000008.11:g.37841999A>G	gnomAD
rs1319195719	p.Ser1225Asn	missense variant	-	NC_000008.11:g.37842012G>A	gnomAD
rs1402730722	p.Ser1225Gly	missense variant	-	NC_000008.11:g.37842011A>G	gnomAD
rs1330936686	p.Pro1226Ser	missense variant	-	NC_000008.11:g.37842014C>T	gnomAD
rs909675567	p.Asp1228His	missense variant	-	NC_000008.11:g.37842020G>C	TOPMed
rs1276937759	p.Leu1231Arg	missense variant	-	NC_000008.11:g.37842030T>G	gnomAD
NCI-TCGA novel	p.Leu1231Gln	missense variant	-	NC_000008.11:g.37842030T>A	NCI-TCGA
rs1239987752	p.Arg1235Cys	missense variant	-	NC_000008.11:g.37842041C>T	gnomAD
rs1283331251	p.Asn1236Asp	missense variant	-	NC_000008.11:g.37842044A>G	gnomAD
rs1288668318	p.Gly1239Ser	missense variant	-	NC_000008.11:g.37842053G>A	TOPMed,gnomAD
rs1253320794	p.Gln1243Lys	missense variant	-	NC_000008.11:g.37842065C>A	gnomAD
rs1253320794	p.Gln1243Ter	stop gained	-	NC_000008.11:g.37842065C>T	gnomAD
rs1248272933	p.Gly1246Val	missense variant	-	NC_000008.11:g.37842075G>T	TOPMed
rs1176699256	p.Pro1248Ser	missense variant	-	NC_000008.11:g.37842080C>T	TOPMed,gnomAD
rs1471188065	p.Met1249Val	missense variant	-	NC_000008.11:g.37842083A>G	gnomAD
rs1159170617	p.Met1249Arg	missense variant	-	NC_000008.11:g.37842084T>G	TOPMed,gnomAD
rs1390333693	p.Leu1250Phe	missense variant	-	NC_000008.11:g.37842086C>T	gnomAD
rs1328366056	p.Pro1252Leu	missense variant	-	NC_000008.11:g.37842093C>T	gnomAD
rs1446777338	p.Ser1253Tyr	missense variant	-	NC_000008.11:g.37842096C>A	gnomAD
rs1366749137	p.Gly1255Ser	missense variant	-	NC_000008.11:g.37842101G>A	TOPMed
rs1307664661	p.Gly1255Asp	missense variant	-	NC_000008.11:g.37842102G>A	TOPMed,gnomAD
rs1337063165	p.Ser1256Arg	missense variant	-	NC_000008.11:g.37842106C>G	gnomAD
rs1239160834	p.Asp1257Asn	missense variant	-	NC_000008.11:g.37842107G>A	gnomAD
rs561986158	p.Ser1259Arg	missense variant	-	NC_000008.11:g.37842115C>A	TOPMed,gnomAD
rs1229618971	p.Ala1260Thr	missense variant	-	NC_000008.11:g.37842116G>A	gnomAD
rs939288027	p.Ala1261Val	missense variant	-	NC_000008.11:g.37842120C>T	TOPMed,gnomAD
rs1457132209	p.Pro1262Gln	missense variant	-	NC_000008.11:g.37842123C>A	gnomAD
rs1196727304	p.Leu1263Pro	missense variant	-	NC_000008.11:g.37842126T>C	gnomAD
rs755980978	p.Ser1264Phe	missense variant	-	NC_000008.11:g.37842129C>T	ExAC,gnomAD
rs1054795133	p.Glu1265Lys	missense variant	-	NC_000008.11:g.37842131G>A	TOPMed,gnomAD
rs1240096905	p.Glu1265Val	missense variant	-	NC_000008.11:g.37842132A>T	TOPMed
rs1438288788	p.Ala1266Val	missense variant	-	NC_000008.11:g.37842135C>T	TOPMed,gnomAD
rs1266325212	p.Gly1267Asp	missense variant	-	NC_000008.11:g.37842138G>A	TOPMed,gnomAD
rs1043023169	p.Gly1267Ser	missense variant	-	NC_000008.11:g.37842137G>A	gnomAD
rs777802540	p.Arg1268Gly	missense variant	-	NC_000008.11:g.37842140C>G	ExAC,gnomAD
rs1471967538	p.Ala1269Val	missense variant	-	NC_000008.11:g.37842144C>T	gnomAD
rs1462697409	p.Gly1270Asp	missense variant	-	NC_000008.11:g.37842147G>A	gnomAD
rs904637013	p.Gln1271Ter	stop gained	-	NC_000008.11:g.37842149C>T	TOPMed,gnomAD
rs904637013	p.Gln1271Glu	missense variant	-	NC_000008.11:g.37842149C>G	TOPMed,gnomAD
rs1419079314	p.Arg1273Cys	missense variant	-	NC_000008.11:g.37842155C>T	gnomAD
rs1465409987	p.Ala1275Pro	missense variant	-	NC_000008.11:g.37842161G>C	gnomAD
rs746259780	p.Ser1276Gly	missense variant	-	NC_000008.11:g.37842164A>G	TOPMed,gnomAD
rs1471715487	p.Arg1277Cys	missense variant	-	NC_000008.11:g.37842167C>T	gnomAD
rs1031733832	p.Ser1279Thr	missense variant	-	NC_000008.11:g.37842174G>C	gnomAD
rs892295617	p.Leu1280Pro	missense variant	-	NC_000008.11:g.37842177T>C	gnomAD
rs1338175996	p.Gly1282Cys	missense variant	-	NC_000008.11:g.37842182G>T	gnomAD
rs546264591	p.Gly1283Ala	missense variant	-	NC_000008.11:g.37842186G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs546264591	p.Gly1283Val	missense variant	-	NC_000008.11:g.37842186G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1364375251	p.Gly1283Arg	missense variant	-	NC_000008.11:g.37842185G>C	TOPMed
rs546264591	p.Gly1283Asp	missense variant	-	NC_000008.11:g.37842186G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1259679995	p.Ala1285Val	missense variant	-	NC_000008.11:g.37842192C>T	gnomAD
rs1216606024	p.Ala1285Thr	missense variant	-	NC_000008.11:g.37842191G>A	TOPMed,gnomAD
rs1199795030	p.Glu1289Asp	missense variant	-	NC_000008.11:g.37842205G>T	gnomAD
rs1019574544	p.His1291Arg	missense variant	-	NC_000008.11:g.37842210A>G	TOPMed,gnomAD
rs998884057	p.Arg1292Cys	missense variant	-	NC_000008.11:g.37842212C>T	TOPMed
rs778483167	p.Ser1294Trp	missense variant	-	NC_000008.11:g.37842219C>G	ExAC,TOPMed,gnomAD
rs778483167	p.Ser1294Leu	missense variant	-	NC_000008.11:g.37842219C>T	ExAC,TOPMed,gnomAD
rs1028289312	p.Tyr1295Ter	stop gained	-	NC_000008.11:g.37842223C>A	TOPMed
rs1480674242	p.Pro1296Gln	missense variant	-	NC_000008.11:g.37842225C>A	TOPMed
rs1375081784	p.Asn1298Asp	missense variant	-	NC_000008.11:g.37842230A>G	gnomAD
rs1172498945	p.Ala1299Val	missense variant	-	NC_000008.11:g.37842234C>T	gnomAD
rs779416720	p.Ala1300Thr	missense variant	-	NC_000008.11:g.37842236G>A	ExAC,TOPMed,gnomAD
rs779416720	p.Ala1300Ser	missense variant	-	NC_000008.11:g.37842236G>T	ExAC,TOPMed,gnomAD
rs1335723001	p.Leu1302Pro	missense variant	-	NC_000008.11:g.37842243T>C	TOPMed,gnomAD
rs1416113763	p.Gly1304Val	missense variant	-	NC_000008.11:g.37842249G>T	gnomAD
rs1397691411	p.Gly1308Glu	missense variant	-	NC_000008.11:g.37842261G>A	gnomAD
rs1324773504	p.Gly1308Arg	missense variant	-	NC_000008.11:g.37842260G>A	TOPMed
rs1397691411	p.Gly1308Ala	missense variant	-	NC_000008.11:g.37842261G>C	gnomAD
rs1285711053	p.Gly1309Ser	missense variant	-	NC_000008.11:g.37842263G>A	TOPMed
rs777214885	p.Lys1310Gln	missense variant	-	NC_000008.11:g.37842266A>C	ExAC,gnomAD
rs777214885	p.Lys1310Glu	missense variant	-	NC_000008.11:g.37842266A>G	ExAC,gnomAD
rs1232489516	p.Lys1310Arg	missense variant	-	NC_000008.11:g.37842267A>G	gnomAD
rs1254146624	p.Tyr1311Asp	missense variant	-	NC_000008.11:g.37842269T>G	gnomAD
rs201432181	p.Asp1313Val	missense variant	-	NC_000008.11:g.37842276A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748465793	p.Asp1313His	missense variant	-	NC_000008.11:g.37842275G>C	ExAC,gnomAD
rs548801136	p.Thr1315Ile	missense variant	-	NC_000008.11:g.37842282C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs367842975	p.Leu1316Pro	missense variant	-	NC_000008.11:g.37842285T>C	ESP,ExAC,gnomAD
rs1173737540	p.Met1317Leu	missense variant	-	NC_000008.11:g.37842287A>T	TOPMed,gnomAD
rs1173737540	p.Met1317Leu	missense variant	-	NC_000008.11:g.37842287A>C	TOPMed,gnomAD
rs1359339077	p.Met1317Ile	missense variant	-	NC_000008.11:g.37842289G>A	gnomAD
rs1290239384	p.Gly1318Asp	missense variant	-	NC_000008.11:g.37842291G>A	gnomAD
rs150771131	p.Gly1318Ser	missense variant	-	NC_000008.11:g.37842290G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1386026966	p.Ala1319Thr	missense variant	-	NC_000008.11:g.37842293G>A	gnomAD
rs1262739882	p.Cys1326Tyr	missense variant	-	NC_000008.11:g.37842315G>A	gnomAD
rs1209621785	p.Lys1328Glu	missense variant	-	NC_000008.11:g.37842320A>G	gnomAD
rs1265643744	p.Thr1329Pro	missense variant	-	NC_000008.11:g.37842323A>C	gnomAD
rs757967284	p.Gly1330Glu	missense variant	-	NC_000008.11:g.37842327G>A	ExAC,TOPMed,gnomAD
rs1194804047	p.Gly1330Arg	missense variant	-	NC_000008.11:g.37842326G>A	gnomAD
rs1440938968	p.Lys1333Gln	missense variant	-	NC_000008.11:g.37842335A>C	TOPMed,gnomAD
rs1440938968	p.Lys1333Glu	missense variant	-	NC_000008.11:g.37842335A>G	TOPMed,gnomAD
rs1481690075	p.Lys1333Asn	missense variant	-	NC_000008.11:g.37842337G>T	TOPMed
rs1160589266	p.Glu1335Val	missense variant	-	NC_000008.11:g.37842342A>T	gnomAD
rs779798627	p.Glu1335Lys	missense variant	-	NC_000008.11:g.37842341G>A	ExAC,TOPMed,gnomAD
rs1345447583	p.Thr1337Ile	missense variant	-	NC_000008.11:g.37842348C>T	TOPMed,gnomAD
rs1265327308	p.Val1338Ile	missense variant	-	NC_000008.11:g.37842350G>A	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0003850	Arteriosclerosis	disease	BEFREE
C0004153	Atherosclerosis	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C1519670	Tumor Angiogenesis	phenotype	BEFREE
C1658953	tumor vasculature	phenotype	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004930	G protein-coupled receptor activity	IEA
GO:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0002040	sprouting angiogenesis	ISS
GO:0002040	sprouting angiogenesis	IBA
GO:0007186	G protein-coupled receptor signaling pathway	IEA
GO:0007417	central nervous system development	ISS
GO:0010595	positive regulation of endothelial cell migration	IEA
GO:0016055	Wnt signaling pathway	IEA
GO:0043542	endothelial cell migration	ISS
GO:0045765	regulation of angiogenesis	ISS
GO:0050920	regulation of chemotaxis	ISS
GO:0090210	regulation of establishment of blood-brain barrier	ISS
GO:0090263	positive regulation of canonical Wnt signaling pathway	IDA
GO:1900747	negative regulation of vascular endothelial growth factor signaling pathway	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005886	plasma membrane	ISS
GO:0009986	cell surface	IEA
GO:0016021	integral component of membrane	IEA
GO:0030175	filopodium	IEA
GO:1990909	Wnt signalosome	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat 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 ADGRA2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid 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 ADGRA2 mRNA	27188386
C496492	abrine	abrine results in decreased expression of ADGRA2 mRNA	31054353
D000082	Acetaminophen	Acetaminophen affects the expression of ADGRA2 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 affects the methylation of ADGRA2 intron	30157460
C029753	aflatoxin B2	aflatoxin B2 results in decreased methylation of ADGRA2 intron	30157460
D000447	Aldehydes	Aldehydes results in increased expression of ADGRA2 mRNA	25014914
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of ADGRA2 mRNA	24449571
D001397	Azoxymethane	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of ADGRA2 mRNA	29950665
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of ADGRA2 intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of ADGRA2 mRNA	22300585
C026487	benzo(e)pyrene	benzo(e)pyrene results in decreased methylation of ADGRA2 intron	30157460
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of ADGRA2 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of ADGRA2 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of ADGRA2 mRNA	30816183
C000611646	bisphenol F	[bisphenol F co-treated with Tretinoin] results in decreased expression of ADGRA2 mRNA	30951980
C000611646	bisphenol F	bisphenol F results in increased expression of ADGRA2 mRNA	30951980
C018475	butyraldehyde	butyraldehyde results in increased expression of ADGRA2 mRNA	26079696
D016264	Dextran Sulfate	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of ADGRA2 mRNA	29950665
D004041	Dietary Fats	Dietary Fats results in increased expression of ADGRA2 mRNA	18042831
C516138	dorsomorphin	[NOG protein co-treated with entinostat 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 ADGRA2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid 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 ADGRA2 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of ADGRA2 mRNA	29803840
C118739	entinostat	entinostat results in increased expression of ADGRA2 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat 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 ADGRA2 mRNA	27188386
D004958	Estradiol	Estradiol affects the expression of ADGRA2 mRNA	22574217
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of ADGRA2 mRNA	30165855
D004958	Estradiol	Estradiol results in increased expression of ADGRA2 mRNA	19484750
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in increased expression of ADGRA2 mRNA	23649840
D017313	Fenretinide	Fenretinide results in increased expression of ADGRA2 mRNA	28973697
D005947	Glucose	[INS protein co-treated with Glucose] results in decreased expression of ADGRA2 mRNA	22634610
D015474	Isotretinoin	Isotretinoin results in increased expression of ADGRA2 mRNA	20436886
C482199	lipopolysaccharide, E coli O55-B5	lipopolysaccharide, E coli O55-B5 results in decreased expression of ADGRA2 mRNA	24972896
D008701	Methapyrilene	Methapyrilene results in decreased methylation of ADGRA2 intron	30157460
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of ADGRA2 mRNA	26011545
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of ADGRA2 mRNA	23649840
D008777	Methyltestosterone	Methyltestosterone results in decreased expression of ADGRA2 mRNA	29191790
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of ADGRA2 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of ADGRA2 mRNA	25554681
D009532	Nickel	Nickel results in decreased expression of ADGRA2 mRNA	25583101
C572573	N-nitroso-tris-chloroethylurea	[N-nitroso-tris-chloroethylurea co-treated with XL147] results in decreased expression of ADGRA2 mRNA	27935865
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of ADGRA2 mRNA	25729387
D000077150	Oxaliplatin	Oxaliplatin results in increased expression of ADGRA2 mRNA	25729387
D000073878	Palm Oil	Palm Oil results in increased expression of ADGRA2 mRNA	18042831
C046012	pentanal	pentanal results in increased expression of ADGRA2 mRNA	26079696
C005556	propionaldehyde	propionaldehyde results in increased expression of ADGRA2 mRNA	26079696
C017947	sodium arsenite	sodium arsenite results in decreased expression of ADGRA2 mRNA	29361514
C017947	sodium arsenite	sodium arsenite results in decreased expression of ADGRA2 mRNA	28595984
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of ADGRA2 mRNA	21570461
C009495	titanium dioxide	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of ADGRA2 mRNA	29950665
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of ADGRA2 mRNA	25729387
D019772	Topotecan	Topotecan results in increased expression of ADGRA2 mRNA	25729387
D014212	Tretinoin	Tretinoin results in decreased expression of ADGRA2 mRNA	23724009
D014212	Tretinoin	[bisphenol F co-treated with Tretinoin] results in decreased expression of ADGRA2 mRNA	30951980
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid 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 ADGRA2 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of ADGRA2 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of ADGRA2 mRNA	23179753; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased methylation of ADGRA2 gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of ADGRA2 mRNA	24896083
D014635	Valproic Acid	Valproic Acid affects the splicing of ADGRA2 mRNA	29427782
C581157	XL147	[N-nitroso-tris-chloroethylurea co-treated with XL147] results in decreased expression of ADGRA2 mRNA	27935865

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0037	Angiogenesis
KW-1003	Cell membrane
KW-0966	Cell projection
KW-0903	Direct protein sequencing
KW-1015	Disulfide bond
KW-0297	G-protein coupled receptor
KW-0325	Glycoprotein
KW-0393	Immunoglobulin domain
KW-0433	Leucine-rich repeat
KW-0472	Membrane
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0675	Receptor
KW-1185	Reference proteome
KW-0677	Repeat
KW-0732	Signal
KW-0807	Transducer
KW-0812	Transmembrane
KW-1133	Transmembrane helix
KW-0879	Wnt signaling pathway

Interpro

InterPro ID	InterPro Term
IPR000483	Cys-rich_flank_reg_C
IPR017981	GPCR_2-like
IPR036445	GPCR_2_extracell_dom_sf
IPR001879	GPCR_2_extracellular_dom
IPR000832	GPCR_2_secretin-like
IPR017983	GPCR_2_secretin-like_CS
IPR000203	GPS
IPR007110	Ig-like_dom
IPR013783	Ig-like_fold
IPR003599	Ig_sub
IPR001611	Leu-rich_rpt
IPR003591	Leu-rich_rpt_typical-subtyp
IPR032675	LRR_dom_sf

PROSITE

PROSITE ID	PROSITE Term
PS00650	G_PROTEIN_RECEP_F2_2
PS50227	G_PROTEIN_RECEP_F2_3
PS50261	G_PROTEIN_RECEP_F2_4
PS50221	GPS
PS50835	IG_LIKE
PS51450	LRR

Pfam

Pfam ID	Pfam Term
PF00002	7tm_2
PF01825	GPS
PF13855	LRR_8

Gene: ADGRA2

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-miRNA interaction