CleftGeneDB-Search

Gene: EPHB3

Basic information

Tag	Content
Uniprot ID	P54753; Q7Z740;
Entrez ID	2049
Genbank protein ID	AAH52968.1; CAA53021.1;
Genbank nucleotide ID	NM_004443.3
Ensembl protein ID	ENSP00000332118
Ensembl nucleotide ID	ENSG00000182580
Gene name	Ephrin type-B receptor 3
Gene symbol	EPHB3
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Generally has an overlapping and redundant function with EPHB2. Like EPHB2, functions in axon guidance during development regulating for instance the neurons forming the corpus callosum and the anterior commissure, 2 major interhemispheric connections between the temporal lobes of the cerebral cortex. In addition to its role in axon guidance plays also an important redundant role with other ephrin-B receptors in development and maturation of dendritic spines and the formation of excitatory synapses. Controls other aspects of development through regulation of cell migration and positioning. This includes angiogenesis, palate development and thymic epithelium development for instance. Forward and reverse signaling through the EFNB2/EPHB3 complex also regulate migration and adhesion of cells that tubularize the urethra and septate the cloaca. Finally, plays an important role in intestinal epithelium differentiation segregating progenitor from differentiated cells in the crypt.
Sequence	MARARPPPPP SPPPGLLPLL PPLLLLPLLL LPAGCRALEE TLMDTKWVTS ELAWTSHPES 60 GWEEVSGYDE AMNPIRTYQV CNVRESSQNN WLRTGFIWRR DVQRVYVELK FTVRDCNSIP 120 NIPGSCKETF NLFYYEADSD VASASSPFWM ENPYVKVDTI APDESFSRLD AGRVNTKVRS 180 FGPLSKAGFY LAFQDQGACM SLISVRAFYK KCASTTAGFA LFPETLTGAE PTSLVIAPGT 240 CIPNAVEVSV PLKLYCNGDG EWMVPVGACT CATGHEPAAK ESQCRPCPPG SYKAKQGEGP 300 CLPCPPNSRT TSPAASICTC HNNFYRADSD SADSACTTVP SPPRGVISNV NETSLILEWS 360 EPRDLGGRDD LLYNVICKKC HGAGGASACS RCDDNVEFVP RQLGLTERRV HISHLLAHTR 420 YTFEVQAVNG VSGKSPLPPR YAAVNITTNQ AAPSEVPTLR LHSSSGSSLT LSWAPPERPN 480 GVILDYEMKY FEKSEGIAST VTSQMNSVQL DGLRPDARYV VQVRARTVAG YGQYSRPAEF 540 ETTSERGSGA QQLQEQLPLI VGSATAGLVF VVAVVVIAIV CLRKQRHGSD SEYTEKLQQY 600 IAPGMKVYID PFTYEDPNEA VREFAKEIDV SCVKIEEVIG AGEFGEVCRG RLKQPGRREV 660 FVAIKTLKVG YTERQRRDFL SEASIMGQFD HPNIIRLEGV VTKSRPVMIL TEFMENCALD 720 SFLRLNDGQF TVIQLVGMLR GIAAGMKYLS EMNYVHRDLA ARNILVNSNL VCKVSDFGLS 780 RFLEDDPSDP TYTSSLGGKI PIRWTAPEAI AYRKFTSASD VWSYGIVMWE VMSYGERPYW 840 DMSNQDVINA VEQDYRLPPP MDCPTALHQL MLDCWVRDRN LRPKFSQIVN TLDKLIRNAA 900 SLKVIASAQS GMSQPLLDRT VPDYTTFTTV GDWLDAIKMG RYKESFVSAG FASFDLVAQM 960 TAEDLLRIGV TLAGHQKKIL SSIQDMRLQM NQTLPVQV 998

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
3P1I
3ZFY
5L6O
5L6P
3P1I
5L6O

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	EPHB3	540907	F1ML02			Bos taurus	Prediction	More>>
1:1 ortholog	EPHB3		A0A452DRK7			Capra hircus	Prediction	More>>
1:1 ortholog	EPHB3	2049	P54753			Homo sapiens	Prediction	More>>
1:1 ortholog	Ephb3	13845	P54754	CPO	E12.5, E13.5, E14.5	Mus musculus	Publication	More>>
1:1 ortholog	EPHB3		A0A2I3TIH1			Pan troglodytes	Prediction	More>>
1:1 ortholog	Ephb3	287989	D3ZH39			Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1467550827	p.Arg3Ser	missense variant	-	NC_000003.12:g.184562244A>C	TOPMed,gnomAD
rs1164820191	p.Arg5His	missense variant	-	NC_000003.12:g.184562249G>A	TOPMed,gnomAD
rs930603848	p.Pro6Leu	missense variant	-	NC_000003.12:g.184562252C>T	TOPMed,gnomAD
rs1454392123	p.Pro7Leu	missense variant	-	NC_000003.12:g.184562255C>T	TOPMed
rs1400881855	p.Pro8Leu	missense variant	-	NC_000003.12:g.184562258C>T	TOPMed
rs760420980	p.Ser11Pro	missense variant	-	NC_000003.12:g.184562266T>C	ExAC,TOPMed
rs1324171275	p.Ser11Leu	missense variant	-	NC_000003.12:g.184562267C>T	TOPMed,gnomAD
rs1324171275	p.Ser11Ter	stop gained	-	NC_000003.12:g.184562267C>A	TOPMed,gnomAD
rs1402465049	p.Pro12Leu	missense variant	-	NC_000003.12:g.184562270C>T	TOPMed,gnomAD
rs376974166	p.Leu16Arg	missense variant	-	NC_000003.12:g.184562282T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs376974166	p.Leu16Pro	missense variant	-	NC_000003.12:g.184562282T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1490254791	p.Pro21Ser	missense variant	-	NC_000003.12:g.184562296C>T	gnomAD
rs1356133376	p.Leu23Val	missense variant	-	NC_000003.12:g.184562302C>G	gnomAD
rs1429789406	p.Leu28Pro	missense variant	-	NC_000003.12:g.184562318T>C	gnomAD
rs1363161312	p.Ala33Thr	missense variant	-	NC_000003.12:g.184562332G>A	gnomAD
rs1385124373	p.Gly34Ser	missense variant	-	NC_000003.12:g.184562335G>A	TOPMed
rs570761224	p.Cys35Trp	missense variant	-	NC_000003.12:g.184562340C>G	gnomAD
rs776518476	p.Arg36Gln	missense variant	-	NC_000003.12:g.184562342G>A	ExAC,TOPMed,gnomAD
rs776518476	p.Arg36Pro	missense variant	-	NC_000003.12:g.184562342G>C	ExAC,TOPMed,gnomAD
rs1417292568	p.Arg36Trp	missense variant	-	NC_000003.12:g.184562341C>T	gnomAD
rs1240594736	p.Ala37Val	missense variant	-	NC_000003.12:g.184562345C>T	TOPMed
rs1240594736	p.Ala37Gly	missense variant	-	NC_000003.12:g.184562345C>G	TOPMed
rs1220327412	p.Glu39Gln	missense variant	-	NC_000003.12:g.184562350G>C	TOPMed
rs1443864241	p.Thr41Asn	missense variant	-	NC_000003.12:g.184571321C>A	gnomAD
rs1415275697	p.Thr49Ala	missense variant	-	NC_000003.12:g.184571344A>G	TOPMed,gnomAD
rs369718915	p.Ser50Thr	missense variant	-	NC_000003.12:g.184571347T>A	gnomAD
NCI-TCGA novel	p.Glu51Gln	missense variant	-	NC_000003.12:g.184571350G>C	NCI-TCGA
rs1456787514	p.Ala53Ser	missense variant	-	NC_000003.12:g.184571356G>T	TOPMed
NCI-TCGA novel	p.Ala53Val	missense variant	-	NC_000003.12:g.184571357C>T	NCI-TCGA
rs1237986709	p.Ala53Glu	missense variant	-	NC_000003.12:g.184571357C>A	TOPMed
rs1467499500	p.Thr55Ala	missense variant	-	NC_000003.12:g.184571362A>G	gnomAD
rs1467499500	p.Thr55Pro	missense variant	-	NC_000003.12:g.184571362A>C	gnomAD
rs183760285	p.Thr55Ile	missense variant	-	NC_000003.12:g.184571363C>T	1000Genomes,ExAC,gnomAD
COSM3590807	p.Pro58Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184571372C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu59Lys	missense variant	-	NC_000003.12:g.184571374G>A	NCI-TCGA
rs200523648	p.Ser60Asn	missense variant	-	NC_000003.12:g.184571378G>A	1000Genomes,ExAC,gnomAD
rs1219793158	p.Val65Met	missense variant	-	NC_000003.12:g.184572513G>A	gnomAD
rs747856336	p.Tyr68Ter	stop gained	-	NC_000003.12:g.184572524C>A	ExAC,TOPMed,gnomAD
rs1171159383	p.Asp69Asn	missense variant	-	NC_000003.12:g.184572525G>A	TOPMed
rs142960558	p.Ala71Ser	missense variant	-	NC_000003.12:g.184572531G>T	ESP,ExAC,TOPMed,gnomAD
rs1489084532	p.Met72Val	missense variant	-	NC_000003.12:g.184572534A>G	gnomAD
rs1489084532	p.Met72Leu	missense variant	-	NC_000003.12:g.184572534A>T	gnomAD
COSM117012	p.Pro74His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184572541C>A	NCI-TCGA Cosmic
rs762788708	p.Arg76Cys	missense variant	-	NC_000003.12:g.184572546C>T	ExAC,gnomAD
rs770916588	p.Arg76His	missense variant	-	NC_000003.12:g.184572547G>A	ExAC,gnomAD
rs1302758661	p.Arg84Cys	missense variant	-	NC_000003.12:g.184572570C>T	gnomAD
rs373498027	p.Arg84His	missense variant	-	NC_000003.12:g.184572571G>A	ESP,ExAC,TOPMed,gnomAD
rs144873693	p.Glu85Gln	missense variant	-	NC_000003.12:g.184572573G>C	ESP,ExAC,TOPMed,gnomAD
rs144873693	p.Glu85Lys	missense variant	-	NC_000003.12:g.184572573G>A	ESP,ExAC,TOPMed,gnomAD
rs766763901	p.Ser87Gly	missense variant	-	NC_000003.12:g.184572579A>G	ExAC,TOPMed
rs752066516	p.Ser87Thr	missense variant	-	NC_000003.12:g.184572580G>C	ExAC,gnomAD
COSM1042086	p.Arg93Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184572597C>T	NCI-TCGA Cosmic
rs755491313	p.Arg93His	missense variant	-	NC_000003.12:g.184572598G>A	ExAC,TOPMed,gnomAD
COSM1205517	p.Thr94Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184572601C>T	NCI-TCGA Cosmic
rs747621686	p.Gly95Ala	missense variant	-	NC_000003.12:g.184572604G>C	ExAC
rs1241015168	p.Ile97Val	missense variant	-	NC_000003.12:g.184572609A>G	TOPMed
NCI-TCGA novel	p.Trp98GlyPheSerTerUnk	frameshift	-	NC_000003.12:g.184572611_184572639CTGGCGGCGGGATGTGCAGCGGGTCTACG>-	NCI-TCGA
rs777512461	p.Arg99Trp	missense variant	-	NC_000003.12:g.184572615C>T	ExAC,gnomAD
rs376603901	p.Arg100Gln	missense variant	-	NC_000003.12:g.184572619G>A	ESP,ExAC,TOPMed,gnomAD
rs141682247	p.Arg100Trp	missense variant	-	NC_000003.12:g.184572618C>T	ESP,ExAC,gnomAD
rs915979381	p.Asp101Asn	missense variant	-	NC_000003.12:g.184572621G>A	TOPMed
rs1201476030	p.Val102Leu	missense variant	-	NC_000003.12:g.184572624G>C	gnomAD
rs774182718	p.Gln103Arg	missense variant	-	NC_000003.12:g.184572628A>G	ExAC,gnomAD
rs772010344	p.Arg104Gln	missense variant	-	NC_000003.12:g.184572631G>A	ExAC,gnomAD
rs745841437	p.Arg104Trp	missense variant	-	NC_000003.12:g.184572630C>T	ExAC,gnomAD
rs772010344	p.Arg104Leu	missense variant	-	NC_000003.12:g.184572631G>T	ExAC,gnomAD
rs776719941	p.Tyr106Asp	missense variant	-	NC_000003.12:g.184572636T>G	ExAC,gnomAD
rs761829006	p.Val107Leu	missense variant	-	NC_000003.12:g.184572639G>C	ExAC,gnomAD
rs761829006	p.Val107Met	missense variant	-	NC_000003.12:g.184572639G>A	ExAC,gnomAD
rs1325313342	p.Lys110Arg	missense variant	-	NC_000003.12:g.184572649A>G	gnomAD
rs1310681804	p.Lys110Glu	missense variant	-	NC_000003.12:g.184572648A>G	TOPMed
rs1309867845	p.Val113Ala	missense variant	-	NC_000003.12:g.184572658T>C	gnomAD
rs1441448893	p.Val113Met	missense variant	-	NC_000003.12:g.184572657G>A	gnomAD
COSM4115803	p.Arg114His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184572661G>A	NCI-TCGA Cosmic
rs751926113	p.Arg114Pro	missense variant	-	NC_000003.12:g.184572661G>C	ExAC,gnomAD
rs1243140106	p.Arg114Cys	missense variant	-	NC_000003.12:g.184572660C>T	TOPMed,gnomAD
rs1243140106	p.Arg114Ser	missense variant	-	NC_000003.12:g.184572660C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Cys116Ser	missense variant	-	NC_000003.12:g.184572666T>A	NCI-TCGA
NCI-TCGA novel	p.Ser118Ile	missense variant	-	NC_000003.12:g.184572673G>T	NCI-TCGA
rs755471082	p.Pro120Ser	missense variant	-	NC_000003.12:g.184572678C>T	ExAC,gnomAD
rs908381311	p.Ile122Phe	missense variant	-	NC_000003.12:g.184572684A>T	TOPMed
rs1211227977	p.Ile122Thr	missense variant	-	NC_000003.12:g.184572685T>C	gnomAD
rs777415226	p.Ser125Pro	missense variant	-	NC_000003.12:g.184572693T>C	ExAC,gnomAD
rs749005451	p.Thr129Asn	missense variant	-	NC_000003.12:g.184572706C>A	ExAC,gnomAD
rs1473920369	p.Phe130Leu	missense variant	-	NC_000003.12:g.184572708T>C	gnomAD
NCI-TCGA novel	p.Ala137Gly	missense variant	-	NC_000003.12:g.184572730C>G	NCI-TCGA
rs1331709573	p.Ser139Gly	missense variant	-	NC_000003.12:g.184572735A>G	gnomAD
rs771921950	p.Asp140Asn	missense variant	-	NC_000003.12:g.184572738G>A	ExAC,TOPMed,gnomAD
rs779906102	p.Ser143Thr	missense variant	-	NC_000003.12:g.184572747T>A	ExAC,gnomAD
rs769922257	p.Ser146Pro	missense variant	-	NC_000003.12:g.184572756T>C	ExAC,gnomAD
rs773256225	p.Pro147His	missense variant	-	NC_000003.12:g.184572760C>A	ExAC,TOPMed,gnomAD
rs773256225	p.Pro147Arg	missense variant	-	NC_000003.12:g.184572760C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp149Cys	missense variant	-	NC_000003.12:g.184572767G>T	NCI-TCGA
rs150396958	p.Met150Leu	missense variant	-	NC_000003.12:g.184572768A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1199670978	p.Glu151Gly	missense variant	-	NC_000003.12:g.184572772A>G	gnomAD
rs1260332028	p.Asn152Lys	missense variant	-	NC_000003.12:g.184572776C>A	TOPMed,gnomAD
rs1052769868	p.Asn152Ser	missense variant	-	NC_000003.12:g.184572775A>G	TOPMed
rs768143669	p.Pro153His	missense variant	-	NC_000003.12:g.184572778C>A	ExAC,gnomAD
rs1034934013	p.Tyr154Cys	missense variant	-	NC_000003.12:g.184572781A>G	TOPMed
rs530601246	p.Tyr154Ter	stop gained	-	NC_000003.12:g.184572782C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs761249780	p.Val155Leu	missense variant	-	NC_000003.12:g.184572783G>T	ExAC,gnomAD
rs761249780	p.Val155Met	missense variant	-	NC_000003.12:g.184572783G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val157Ter	frameshift	-	NC_000003.12:g.184572782_184572783insGTGAA	NCI-TCGA
rs1425615630	p.Val157Met	missense variant	-	NC_000003.12:g.184572789G>A	gnomAD
rs753356805	p.Pro162Ser	missense variant	-	NC_000003.12:g.184572804C>T	ExAC,TOPMed,gnomAD
rs1394989797	p.Asp163Asn	missense variant	-	NC_000003.12:g.184572807G>A	gnomAD
rs145171419	p.Arg168Gln	missense variant	-	NC_000003.12:g.184572823G>A	ESP,ExAC,TOPMed,gnomAD
rs374662963	p.Arg168Trp	missense variant	-	NC_000003.12:g.184572822C>T	ESP,ExAC,TOPMed,gnomAD
VAR_042176	p.Arg168Leu	Missense	-	-	UniProt
rs768554029	p.Leu169Pro	missense variant	-	NC_000003.12:g.184572826T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala171Val	missense variant	-	NC_000003.12:g.184572832C>T	NCI-TCGA
rs149143236	p.Gly172Ser	missense variant	-	NC_000003.12:g.184572834G>A	ESP,ExAC,gnomAD
rs1315526756	p.Arg173Cys	missense variant	-	NC_000003.12:g.184572837C>T	TOPMed,gnomAD
rs1325504589	p.Arg173His	missense variant	-	NC_000003.12:g.184572838G>A	gnomAD
rs771073306	p.Thr176Ile	missense variant	-	NC_000003.12:g.184572847C>T	ExAC,gnomAD
rs1161002948	p.Thr176Ala	missense variant	-	NC_000003.12:g.184572846A>G	gnomAD
rs1321825879	p.Val178Met	missense variant	-	NC_000003.12:g.184572852G>A	gnomAD
COSM6097133	p.Arg179Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184572856G>T	NCI-TCGA Cosmic
rs376915139	p.Arg179Cys	missense variant	-	NC_000003.12:g.184572855C>T	ESP,ExAC,TOPMed,gnomAD
rs376915139	p.Arg179Ser	missense variant	-	NC_000003.12:g.184572855C>A	ESP,ExAC,TOPMed,gnomAD
rs1257091260	p.Arg179His	missense variant	-	NC_000003.12:g.184572856G>A	gnomAD
NCI-TCGA novel	p.Ser180Asn	missense variant	-	NC_000003.12:g.184572859G>A	NCI-TCGA
NCI-TCGA novel	p.Pro183Thr	missense variant	-	NC_000003.12:g.184572867C>A	NCI-TCGA
rs1484485077	p.Leu184Val	missense variant	-	NC_000003.12:g.184572870C>G	gnomAD
rs759675909	p.Ala187Ser	missense variant	-	NC_000003.12:g.184572879G>T	ExAC,gnomAD
rs772620531	p.Leu191Pro	missense variant	-	NC_000003.12:g.184572892T>C	ExAC,gnomAD
COSM1042089	p.Ala192Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184572894G>A	NCI-TCGA Cosmic
rs1479327666	p.Asp195Asn	missense variant	-	NC_000003.12:g.184572903G>A	gnomAD
rs1270981122	p.Gly197Cys	missense variant	-	NC_000003.12:g.184572909G>T	TOPMed
rs371321162	p.Ala198Thr	missense variant	-	NC_000003.12:g.184572912G>A	ESP,ExAC,TOPMed,gnomAD
rs1453510930	p.Ser201Leu	missense variant	-	NC_000003.12:g.184572922C>T	gnomAD
rs764652577	p.Leu202Ile	missense variant	-	NC_000003.12:g.184572924C>A	ExAC,gnomAD
rs267599717	p.Val205Met	missense variant	-	NC_000003.12:g.184572933G>A	ExAC,TOPMed,gnomAD
rs1325345728	p.Arg206Ser	missense variant	-	NC_000003.12:g.184572936C>A	TOPMed
rs1344093500	p.Arg206His	missense variant	-	NC_000003.12:g.184572937G>A	TOPMed,gnomAD
rs758025687	p.Ala207Thr	missense variant	-	NC_000003.12:g.184572939G>A	ExAC,gnomAD
rs1314485177	p.Cys212Ser	missense variant	-	NC_000003.12:g.184572954T>A	gnomAD
rs1260263685	p.Thr215Ile	missense variant	-	NC_000003.12:g.184572964C>T	gnomAD
rs779865356	p.Thr216Ala	missense variant	-	NC_000003.12:g.184572966A>G	ExAC,gnomAD
rs187877110	p.Ala217Thr	missense variant	-	NC_000003.12:g.184572969G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs187877110	p.Ala217Ser	missense variant	-	NC_000003.12:g.184572969G>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM4913751	p.Gly218Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184572973G>T	NCI-TCGA Cosmic
COSM1743275	p.Ala220Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184572978G>A	NCI-TCGA Cosmic
rs1190422204	p.Ala220Ser	missense variant	-	NC_000003.12:g.184572978G>T	TOPMed,gnomAD
rs1053717016	p.Leu221Phe	missense variant	-	NC_000003.12:g.184572981C>T	gnomAD
rs1053717016	p.Leu221Val	missense variant	-	NC_000003.12:g.184572981C>G	gnomAD
rs577684335	p.Phe222Leu	missense variant	-	NC_000003.12:g.184572986C>G	ExAC,TOPMed,gnomAD
rs757427786	p.Pro223Ser	missense variant	-	NC_000003.12:g.184572987C>T	ExAC,TOPMed,gnomAD
rs757427786	p.Pro223Thr	missense variant	-	NC_000003.12:g.184572987C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu224Gly	missense variant	-	NC_000003.12:g.184572991A>G	NCI-TCGA
rs772389628	p.Glu224Lys	missense variant	-	NC_000003.12:g.184572990G>A	ExAC,gnomAD
rs776024993	p.Leu226Arg	missense variant	-	NC_000003.12:g.184572997T>G	ExAC,gnomAD
rs1288096728	p.Leu226Val	missense variant	-	NC_000003.12:g.184572996C>G	gnomAD
rs1363340143	p.Thr227Ala	missense variant	-	NC_000003.12:g.184572999A>G	gnomAD
rs1457050797	p.Ala229Val	missense variant	-	NC_000003.12:g.184573006C>T	gnomAD
rs1377834133	p.Pro238Ser	missense variant	-	NC_000003.12:g.184573032C>T	gnomAD
rs762220469	p.Thr240Ile	missense variant	-	NC_000003.12:g.184573039C>T	ExAC,gnomAD
rs762220469	p.Thr240Ser	missense variant	-	NC_000003.12:g.184573039C>G	ExAC,gnomAD
rs772566853	p.Ala245Ser	missense variant	-	NC_000003.12:g.184573053G>T	ExAC,gnomAD
rs765968450	p.Val246Met	missense variant	-	NC_000003.12:g.184573056G>A	ExAC,TOPMed,gnomAD
COSM1042091	p.Glu247Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184573061G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu247Ter	stop gained	-	NC_000003.12:g.184573059G>T	NCI-TCGA
rs1489331903	p.Glu247Lys	missense variant	-	NC_000003.12:g.184573059G>A	gnomAD
rs1194071164	p.Ser249Leu	missense variant	-	NC_000003.12:g.184573066C>T	gnomAD
rs1382805863	p.Tyr255His	missense variant	-	NC_000003.12:g.184573083T>C	TOPMed,gnomAD
rs752741261	p.Gly258Ser	missense variant	-	NC_000003.12:g.184573092G>A	ExAC,TOPMed,gnomAD
COSM1421388	p.Asp259Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184573096A>G	NCI-TCGA Cosmic
rs1460787359	p.Asp259Asn	missense variant	-	NC_000003.12:g.184573095G>A	TOPMed,gnomAD
rs1460787359	p.Asp259Tyr	missense variant	-	NC_000003.12:g.184573095G>T	TOPMed,gnomAD
rs745899529	p.Val264Gly	missense variant	-	NC_000003.12:g.184573111T>G	ExAC,gnomAD
rs758712318	p.Pro265Ala	missense variant	-	NC_000003.12:g.184573113C>G	ExAC,gnomAD
rs780365062	p.Val266Ala	missense variant	-	NC_000003.12:g.184573117T>C	ExAC,gnomAD
rs780365062	p.Val266Gly	missense variant	-	NC_000003.12:g.184573117T>G	ExAC,gnomAD
rs1313052497	p.Val266Met	missense variant	-	NC_000003.12:g.184573116G>A	gnomAD
rs1305914728	p.Ala272Thr	missense variant	-	NC_000003.12:g.184573134G>A	gnomAD
rs1257133837	p.Gly274Ser	missense variant	-	NC_000003.12:g.184573140G>A	gnomAD
rs770161870	p.His275Tyr	missense variant	-	NC_000003.12:g.184573143C>T	ExAC,gnomAD
rs772802555	p.Glu276Asp	missense variant	-	NC_000003.12:g.184573148G>T	ExAC,TOPMed,gnomAD
rs941073049	p.Glu276Lys	missense variant	-	NC_000003.12:g.184573146G>A	TOPMed
rs1482637829	p.Ala279Thr	missense variant	-	NC_000003.12:g.184573155G>A	gnomAD
NCI-TCGA novel	p.Lys280Met	missense variant	-	NC_000003.12:g.184573159A>T	NCI-TCGA
rs1381534970	p.Arg285Cys	missense variant	-	NC_000003.12:g.184573173C>T	gnomAD
rs759178144	p.Arg285His	missense variant	-	NC_000003.12:g.184573174G>A	ExAC,TOPMed,gnomAD
rs767397230	p.Pro286Ser	missense variant	-	NC_000003.12:g.184573176C>T	ExAC,gnomAD
rs775374120	p.Pro288Ala	missense variant	-	NC_000003.12:g.184575835C>G	ExAC,gnomAD
rs775374120	p.Pro288Ser	missense variant	-	NC_000003.12:g.184575835C>T	ExAC,gnomAD
rs145160947	p.Pro288Leu	missense variant	-	NC_000003.12:g.184575836C>T	1000Genomes,ExAC,gnomAD
rs775374120	p.Pro288Thr	missense variant	-	NC_000003.12:g.184575835C>A	ExAC,gnomAD
rs1272804494	p.Gly290Glu	missense variant	-	NC_000003.12:g.184575842G>A	gnomAD
rs533462780	p.Ser291Asn	missense variant	-	NC_000003.12:g.184575845G>A	1000Genomes,ExAC,gnomAD
rs751651488	p.Lys293Arg	missense variant	-	NC_000003.12:g.184575851A>G	ExAC,gnomAD
rs370076639	p.Ala294Val	missense variant	-	NC_000003.12:g.184575854C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1343454160	p.Ala294Ser	missense variant	-	NC_000003.12:g.184575853G>T	TOPMed
rs753111235	p.Lys295Arg	missense variant	-	NC_000003.12:g.184575857A>G	ExAC,gnomAD
rs778100986	p.Glu298Lys	missense variant	-	NC_000003.12:g.184575865G>A	ExAC,gnomAD
rs749846196	p.Gly299Arg	missense variant	-	NC_000003.12:g.184575868G>C	ExAC,gnomAD
rs771399895	p.Gly299Glu	missense variant	-	NC_000003.12:g.184575869G>A	ExAC,TOPMed,gnomAD
rs771399895	p.Gly299Val	missense variant	-	NC_000003.12:g.184575869G>T	ExAC,TOPMed,gnomAD
COSM3915484	p.Pro300Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184575871C>T	NCI-TCGA Cosmic
rs182804854	p.Pro303Ala	missense variant	-	NC_000003.12:g.184575880C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs182804854	p.Pro303Ser	missense variant	-	NC_000003.12:g.184575880C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376039794	p.Pro306Arg	missense variant	-	NC_000003.12:g.184575890C>G	ExAC,TOPMed,gnomAD
rs376039794	p.Pro306Leu	missense variant	-	NC_000003.12:g.184575890C>T	ExAC,TOPMed,gnomAD
rs376039794	p.Pro306His	missense variant	-	NC_000003.12:g.184575890C>A	ExAC,TOPMed,gnomAD
rs1437170309	p.Asn307Ser	missense variant	-	NC_000003.12:g.184575893A>G	gnomAD
rs1276534495	p.Ser308Asn	missense variant	-	NC_000003.12:g.184575896G>A	gnomAD
rs549078813	p.Arg309His	missense variant	-	NC_000003.12:g.184575899G>A	1000Genomes,ExAC,gnomAD
rs768629190	p.Arg309Cys	missense variant	-	NC_000003.12:g.184575898C>T	ExAC,TOPMed,gnomAD
rs751702691	p.Thr310Ser	missense variant	-	NC_000003.12:g.184575902C>G	ExAC,gnomAD
rs751702691	p.Thr310Ile	missense variant	-	NC_000003.12:g.184575902C>T	ExAC,gnomAD
rs765218907	p.Thr310Pro	missense variant	-	NC_000003.12:g.184575901A>C	ExAC,gnomAD
rs759467668	p.Thr311Pro	missense variant	-	NC_000003.12:g.184575904A>C	ExAC,gnomAD
rs759467668	p.Thr311Ala	missense variant	-	NC_000003.12:g.184575904A>G	ExAC,gnomAD
rs752924603	p.Ser312Pro	missense variant	-	NC_000003.12:g.184575907T>C	ExAC,gnomAD
rs1372211311	p.Ala314Val	missense variant	-	NC_000003.12:g.184575914C>T	TOPMed
rs141695759	p.Ala315Thr	missense variant	-	NC_000003.12:g.184575916G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141695759	p.Ala315Ser	missense variant	-	NC_000003.12:g.184575916G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754159266	p.Ile317Phe	missense variant	-	NC_000003.12:g.184575922A>T	ExAC
rs754159266	p.Ile317Leu	missense variant	-	NC_000003.12:g.184575922A>C	ExAC
rs745384535	p.Cys318Phe	missense variant	-	NC_000003.12:g.184575926G>T	ExAC,gnomAD
rs745384535	p.Cys318Ser	missense variant	-	NC_000003.12:g.184575926G>C	ExAC,gnomAD
rs779602166	p.Thr319Pro	missense variant	-	NC_000003.12:g.184575928A>C	ExAC,gnomAD
rs746687191	p.Thr319Asn	missense variant	-	NC_000003.12:g.184575929C>A	ExAC,gnomAD
rs746687191	p.Thr319Ile	missense variant	-	NC_000003.12:g.184575929C>T	ExAC,gnomAD
rs768390764	p.His321Tyr	missense variant	-	NC_000003.12:g.184575934C>T	ExAC,gnomAD
rs1266194550	p.Asn323Lys	missense variant	-	NC_000003.12:g.184575942C>A	TOPMed
rs1176017829	p.Asn323Ile	missense variant	-	NC_000003.12:g.184575941A>T	gnomAD
rs1389820335	p.Arg326His	missense variant	-	NC_000003.12:g.184575950G>A	TOPMed,gnomAD
rs747895201	p.Ser329Leu	missense variant	-	NC_000003.12:g.184575959C>T	ExAC,TOPMed,gnomAD
rs372695676	p.Asp330Val	missense variant	-	NC_000003.12:g.184575962A>T	ESP,ExAC,gnomAD
rs375556795	p.Ser331Tyr	missense variant	-	NC_000003.12:g.184575965C>A	ESP,ExAC,TOPMed,gnomAD
rs375556795	p.Ser331Cys	missense variant	-	NC_000003.12:g.184575965C>G	ESP,ExAC,TOPMed,gnomAD
rs767547020	p.Ala332Val	missense variant	-	NC_000003.12:g.184575968C>T	ExAC,TOPMed,gnomAD
rs767547020	p.Ala332Gly	missense variant	-	NC_000003.12:g.184575968C>G	ExAC,TOPMed,gnomAD
rs1283229897	p.Ser334Asn	missense variant	-	NC_000003.12:g.184575974G>A	gnomAD
rs760921373	p.Ala335Val	missense variant	-	NC_000003.12:g.184575977C>T	ExAC,gnomAD
rs1477368352	p.Thr338Ile	missense variant	-	NC_000003.12:g.184576842C>T	gnomAD
rs149247223	p.Val339Met	missense variant	-	NC_000003.12:g.184576844G>A	ESP,ExAC,TOPMed,gnomAD
rs763398988	p.Ser341Ala	missense variant	-	NC_000003.12:g.184576850T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser341Tyr	missense variant	-	NC_000003.12:g.184576851C>A	NCI-TCGA
rs1256335446	p.Pro342Leu	missense variant	-	NC_000003.12:g.184576854C>T	gnomAD
rs372575808	p.Arg344Ter	stop gained	-	NC_000003.12:g.184576859C>T	ESP,ExAC,TOPMed,gnomAD
rs562993499	p.Arg344Gln	missense variant	-	NC_000003.12:g.184576860G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg344GluPheSerTerUnk	frameshift	-	NC_000003.12:g.184576856C>-	NCI-TCGA
rs372575808	p.Arg344Gly	missense variant	-	NC_000003.12:g.184576859C>G	ESP,ExAC,TOPMed,gnomAD
rs1188006452	p.Gly345Asp	missense variant	-	NC_000003.12:g.184576863G>A	TOPMed
rs1400999427	p.Asn349Ser	missense variant	-	NC_000003.12:g.184576875A>G	gnomAD
rs1233121524	p.Ser354Leu	missense variant	-	NC_000003.12:g.184576890C>T	gnomAD
rs1256715336	p.Ile356Val	missense variant	-	NC_000003.12:g.184576895A>G	gnomAD
COSM4115806	p.Glu358Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184576902A>C	NCI-TCGA Cosmic
rs201322151	p.Glu358Lys	missense variant	-	NC_000003.12:g.184576901G>A	ExAC,TOPMed,gnomAD
rs777462615	p.Ser360Arg	missense variant	-	NC_000003.12:g.184576909T>A	ExAC,gnomAD
rs781759967	p.Arg363Pro	missense variant	-	NC_000003.12:g.184576917G>C	ExAC,TOPMed,gnomAD
rs549325655	p.Arg363Trp	missense variant	-	NC_000003.12:g.184576916C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg363GlyPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.184576913C>-	NCI-TCGA
rs781759967	p.Arg363Gln	missense variant	-	NC_000003.12:g.184576917G>A	ExAC,TOPMed,gnomAD
rs1168221094	p.Gly367Arg	missense variant	-	NC_000003.12:g.184576928G>C	gnomAD
rs1198054446	p.Arg368Trp	missense variant	-	NC_000003.12:g.184576931C>T	gnomAD
rs746388630	p.Asp369Asn	missense variant	-	NC_000003.12:g.184576934G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp370Asn	missense variant	-	NC_000003.12:g.184576937G>A	NCI-TCGA
rs768778880	p.Leu371Val	missense variant	-	NC_000003.12:g.184576940C>G	ExAC,gnomAD
rs776669177	p.Val375Ile	missense variant	-	NC_000003.12:g.184576952G>A	ExAC,TOPMed,gnomAD
rs1386759161	p.Cys377Trp	missense variant	-	NC_000003.12:g.184576960C>G	gnomAD
rs762060127	p.Cys377Tyr	missense variant	-	NC_000003.12:g.184576959G>A	ExAC,gnomAD
rs1353353673	p.Lys378Gln	missense variant	-	NC_000003.12:g.184576961A>C	gnomAD
NCI-TCGA novel	p.Lys378Glu	missense variant	-	NC_000003.12:g.184576961A>G	NCI-TCGA
rs1354729210	p.Gly385Arg	missense variant	-	NC_000003.12:g.184576982G>A	gnomAD
rs763312420	p.Ala386Pro	missense variant	-	NC_000003.12:g.184576985G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala386Val	missense variant	-	NC_000003.12:g.184576986C>T	NCI-TCGA
rs752170254	p.Ser387Leu	missense variant	-	NC_000003.12:g.184576989C>T	ExAC,TOPMed,gnomAD
rs200601511	p.Ala388Thr	missense variant	-	NC_000003.12:g.184576991G>A	ESP,TOPMed,gnomAD
rs767180194	p.Cys389Ser	missense variant	-	NC_000003.12:g.184576995G>C	ExAC,gnomAD
rs767180194	p.Cys389Tyr	missense variant	-	NC_000003.12:g.184576995G>A	ExAC,gnomAD
rs566350665	p.Arg391Cys	missense variant	-	NC_000003.12:g.184577000C>T	TOPMed,gnomAD
rs141064214	p.Arg391His	missense variant	-	NC_000003.12:g.184577001G>A	ESP,TOPMed,gnomAD
rs755747537	p.Asn395Asp	missense variant	-	NC_000003.12:g.184577012A>G	ExAC,gnomAD
rs777423504	p.Asn395Ser	missense variant	-	NC_000003.12:g.184577013A>G	ExAC,gnomAD
rs144807386	p.Val396Leu	missense variant	-	NC_000003.12:g.184577015G>T	ESP,ExAC,TOPMed,gnomAD
rs144807386	p.Val396Met	missense variant	-	NC_000003.12:g.184577015G>A	ESP,ExAC,TOPMed,gnomAD
rs375763872	p.Val399Met	missense variant	-	NC_000003.12:g.184577024G>A	ESP,ExAC,TOPMed,gnomAD
rs1365994557	p.Arg401Trp	missense variant	-	NC_000003.12:g.184577030C>T	TOPMed
rs140106380	p.Arg401Gln	missense variant	-	NC_000003.12:g.184577031G>A	ESP,ExAC,TOPMed,gnomAD
COSM6164094	p.Gln402His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184577035G>C	NCI-TCGA Cosmic
rs1377714208	p.Gln402Lys	missense variant	-	NC_000003.12:g.184577033C>A	gnomAD
COSM6164093	p.Gly404Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184577039G>T	NCI-TCGA Cosmic
rs769913740	p.Thr406Met	missense variant	-	NC_000003.12:g.184577046C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu407Lys	missense variant	-	NC_000003.12:g.184577048G>A	NCI-TCGA
NCI-TCGA novel	p.Glu407Ter	stop gained	-	NC_000003.12:g.184577048G>T	NCI-TCGA
rs535315602	p.Arg408His	missense variant	-	NC_000003.12:g.184577052G>A	ExAC,TOPMed,gnomAD
rs370364618	p.Arg408Cys	missense variant	-	NC_000003.12:g.184577051C>T	ExAC,TOPMed,gnomAD
rs773741899	p.Arg409Trp	missense variant	-	NC_000003.12:g.184577054C>T	ExAC,TOPMed,gnomAD
rs773741899	p.Arg409Gly	missense variant	-	NC_000003.12:g.184577054C>G	ExAC,TOPMed,gnomAD
rs768092104	p.Arg409Gln	missense variant	-	NC_000003.12:g.184577055G>A	ExAC,gnomAD
rs1351314275	p.Val410Phe	missense variant	-	NC_000003.12:g.184577057G>T	TOPMed
rs760161735	p.Ile412Asn	missense variant	-	NC_000003.12:g.184577064T>A	ExAC
rs775157731	p.Ile412Phe	missense variant	-	NC_000003.12:g.184577063A>T	ExAC
rs1334916359	p.Ser413Asn	missense variant	-	NC_000003.12:g.184577067G>A	TOPMed
COSM4856832	p.Ala417Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184577078G>A	NCI-TCGA Cosmic
rs763505156	p.Thr419Arg	missense variant	-	NC_000003.12:g.184577085C>G	ExAC,TOPMed,gnomAD
rs951062210	p.Thr419Ala	missense variant	-	NC_000003.12:g.184577084A>G	TOPMed,gnomAD
rs763505156	p.Thr419Met	missense variant	-	NC_000003.12:g.184577085C>T	ExAC,TOPMed,gnomAD
rs142854760	p.Arg420Cys	missense variant	-	NC_000003.12:g.184577087C>T	ESP,ExAC,TOPMed,gnomAD
rs373788594	p.Arg420His	missense variant	-	NC_000003.12:g.184577088G>A	ESP,ExAC,TOPMed,gnomAD
rs1401207898	p.Thr422Ser	missense variant	-	NC_000003.12:g.184577094C>G	gnomAD
rs569320067	p.Glu424Val	missense variant	-	NC_000003.12:g.184577100A>T	1000Genomes,ExAC,gnomAD
rs1301108594	p.Ala427Val	missense variant	-	NC_000003.12:g.184577109C>T	TOPMed,gnomAD
rs1336653894	p.Gly430Asp	missense variant	-	NC_000003.12:g.184577118G>A	gnomAD
rs1293729077	p.Gly430Ser	missense variant	-	NC_000003.12:g.184577117G>A	TOPMed,gnomAD
rs756275485	p.Ser432Leu	missense variant	-	NC_000003.12:g.184577124C>T	ExAC,TOPMed,gnomAD
rs779216599	p.Pro436Leu	missense variant	-	NC_000003.12:g.184577136C>T	gnomAD
rs749567734	p.Pro438Ser	missense variant	-	NC_000003.12:g.184577141C>T	ExAC,gnomAD
rs370732996	p.Arg440Leu	missense variant	-	NC_000003.12:g.184577148G>T	ESP,ExAC,TOPMed,gnomAD
rs370732996	p.Arg440His	missense variant	-	NC_000003.12:g.184577148G>A	ESP,ExAC,TOPMed,gnomAD
rs370732996	p.Arg440Pro	missense variant	-	NC_000003.12:g.184577148G>C	ESP,ExAC,TOPMed,gnomAD
rs56029711	p.Arg440Cys	missense variant	-	NC_000003.12:g.184577147C>T	ExAC,TOPMed,gnomAD
rs56029711	p.Arg440Cys	missense variant	-	NC_000003.12:g.184577147C>T	UniProt,dbSNP
VAR_042177	p.Arg440Cys	missense variant	-	NC_000003.12:g.184577147C>T	UniProt
rs776201525	p.Ala442Val	missense variant	-	NC_000003.12:g.184577154C>T	ExAC,gnomAD
rs753545856	p.Val444Met	missense variant	-	NC_000003.12:g.184577159G>A	ExAC,TOPMed,gnomAD
COSM3590810	p.Ala451Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184577181C>T	NCI-TCGA Cosmic
rs1215405583	p.Ala452Val	missense variant	-	NC_000003.12:g.184577343C>T	gnomAD
rs1412087677	p.Ala452Thr	missense variant	-	NC_000003.12:g.184577183G>A	gnomAD
NCI-TCGA novel	p.Pro453Thr	missense variant	-	NC_000003.12:g.184577345C>A	NCI-TCGA
rs772907622	p.Pro453Ser	missense variant	-	NC_000003.12:g.184577345C>T	ExAC,gnomAD
rs766204022	p.Val456Leu	missense variant	-	NC_000003.12:g.184577354G>C	ExAC,gnomAD
NCI-TCGA novel	p.Thr458Ala	missense variant	-	NC_000003.12:g.184577360A>G	NCI-TCGA
rs367551424	p.Arg460His	missense variant	-	NC_000003.12:g.184577367G>A	ESP,ExAC,TOPMed,gnomAD
rs1378516773	p.Arg460Cys	missense variant	-	NC_000003.12:g.184577366C>T	TOPMed,gnomAD
rs367551424	p.Arg460Leu	missense variant	-	NC_000003.12:g.184577367G>T	ESP,ExAC,TOPMed,gnomAD
rs753960972	p.His462Gln	missense variant	-	NC_000003.12:g.184577374C>A	ExAC,gnomAD
rs976448749	p.Ser463Asn	missense variant	-	NC_000003.12:g.184577376G>A	TOPMed,gnomAD
rs1489826786	p.Ser464Ile	missense variant	-	NC_000003.12:g.184577379G>T	TOPMed
rs1402238373	p.Ser465Leu	missense variant	-	NC_000003.12:g.184577382C>T	gnomAD
rs1349252295	p.Gly466Asp	missense variant	-	NC_000003.12:g.184577385G>A	gnomAD
rs1441501555	p.Ser467Gly	missense variant	-	NC_000003.12:g.184577387A>G	gnomAD
NCI-TCGA novel	p.Ser468Arg	missense variant	-	NC_000003.12:g.184577392C>G	NCI-TCGA
NCI-TCGA novel	p.Leu469Ile	missense variant	-	NC_000003.12:g.184577393C>A	NCI-TCGA
rs750720535	p.Thr470Ile	missense variant	-	NC_000003.12:g.184577397C>T	ExAC,gnomAD
NCI-TCGA novel	p.Trp473Cys	missense variant	-	NC_000003.12:g.184577407G>T	NCI-TCGA
COSM5994734	p.Ala474Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184577408G>A	NCI-TCGA Cosmic
rs1352317421	p.Pro475Leu	missense variant	-	NC_000003.12:g.184577412C>T	gnomAD
rs780497068	p.Glu477Gly	missense variant	-	NC_000003.12:g.184577418A>G	ExAC,TOPMed,gnomAD
rs747285934	p.Arg478Trp	missense variant	-	NC_000003.12:g.184577420C>T	ExAC,TOPMed,gnomAD
rs375496102	p.Arg478Gln	missense variant	-	NC_000003.12:g.184577421G>A	ESP,gnomAD
rs564635010	p.Pro479Ser	missense variant	-	NC_000003.12:g.184577423C>T	1000Genomes,ExAC,gnomAD
rs1182532667	p.Asn480Lys	missense variant	-	NC_000003.12:g.184577428C>A	TOPMed,gnomAD
rs748640806	p.Asn480Ser	missense variant	-	NC_000003.12:g.184577427A>G	ExAC,TOPMed,gnomAD
COSM4115807	p.Asp485Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184577441G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp485Gly	missense variant	-	NC_000003.12:g.184577442A>G	NCI-TCGA
NCI-TCGA novel	p.Tyr486Cys	missense variant	-	NC_000003.12:g.184577445A>G	NCI-TCGA
rs770525111	p.Glu487Lys	missense variant	-	NC_000003.12:g.184577447G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu487Ter	stop gained	-	NC_000003.12:g.184577447G>T	NCI-TCGA
rs774211642	p.Tyr490Phe	missense variant	-	NC_000003.12:g.184577457A>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu492Gln	missense variant	-	NC_000003.12:g.184577462G>C	NCI-TCGA
rs531602325	p.Glu495Lys	missense variant	-	NC_000003.12:g.184577661G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1355627786	p.Gly496Cys	missense variant	-	NC_000003.12:g.184577664G>T	gnomAD
rs571726697	p.Ala498Thr	missense variant	-	NC_000003.12:g.184577670G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs745516888	p.Gln504Ter	stop gained	-	NC_000003.12:g.184577688C>T	ExAC,gnomAD
COSM232259	p.Met505Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184577693G>A	NCI-TCGA Cosmic
rs976708397	p.Val508Leu	missense variant	-	NC_000003.12:g.184577700G>C	TOPMed,gnomAD
rs976708397	p.Val508Met	missense variant	-	NC_000003.12:g.184577700G>A	TOPMed,gnomAD
rs976708397	p.Val508Leu	missense variant	-	NC_000003.12:g.184577700G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gln509Ter	stop gained	-	NC_000003.12:g.184577703C>T	NCI-TCGA
rs921207057	p.Gly512Arg	missense variant	-	NC_000003.12:g.184577712G>A	TOPMed,gnomAD
COSM3915486	p.Leu513Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184577715C>T	NCI-TCGA Cosmic
rs773436930	p.Arg514Gln	missense variant	-	NC_000003.12:g.184577719G>A	ExAC,TOPMed,gnomAD
rs773436930	p.Arg514Leu	missense variant	-	NC_000003.12:g.184577719G>T	ExAC,TOPMed,gnomAD
rs137990292	p.Arg514Trp	missense variant	-	NC_000003.12:g.184577718C>T	ESP,ExAC,TOPMed,gnomAD
rs1476759332	p.Pro515Ser	missense variant	-	NC_000003.12:g.184577721C>T	gnomAD
rs372320884	p.Ala517Thr	missense variant	-	NC_000003.12:g.184577727G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372320884	p.Ala517Ser	missense variant	-	NC_000003.12:g.184577727G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767806437	p.Ala517Val	missense variant	-	NC_000003.12:g.184577728C>T	ExAC,TOPMed,gnomAD
rs144538024	p.Arg518Cys	missense variant	-	NC_000003.12:g.184577730C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756630127	p.Arg518His	missense variant	-	NC_000003.12:g.184577731G>A	ExAC,TOPMed,gnomAD
rs756630127	p.Arg518Leu	missense variant	-	NC_000003.12:g.184577731G>T	ExAC,TOPMed,gnomAD
rs1298374767	p.Val523Ile	missense variant	-	NC_000003.12:g.184577745G>A	gnomAD
rs749795926	p.Arg524Cys	missense variant	-	NC_000003.12:g.184577748C>T	ExAC,TOPMed,gnomAD
rs1232648223	p.Arg524His	missense variant	-	NC_000003.12:g.184577749G>A	gnomAD
rs756778465	p.Arg526His	missense variant	-	NC_000003.12:g.184577755G>A	ExAC,gnomAD
rs1238216819	p.Val528Ile	missense variant	-	NC_000003.12:g.184577760G>A	gnomAD
rs745543009	p.Gly530Asp	missense variant	-	NC_000003.12:g.184577767G>A	ExAC,TOPMed,gnomAD
rs775444676	p.Tyr534Ter	stop gained	-	NC_000003.12:g.184577780C>G	ExAC,gnomAD
rs200203653	p.Arg536His	missense variant	-	NC_000003.12:g.184577785G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200203653	p.Arg536Pro	missense variant	-	NC_000003.12:g.184577785G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs554953614	p.Arg536Cys	missense variant	-	NC_000003.12:g.184577784C>T	1000Genomes,ExAC,gnomAD
rs200203653	p.Arg536Leu	missense variant	-	NC_000003.12:g.184577785G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1395133189	p.Pro537Ser	missense variant	-	NC_000003.12:g.184577787C>T	TOPMed,gnomAD
rs1395133189	p.Pro537Ala	missense variant	-	NC_000003.12:g.184577787C>G	TOPMed,gnomAD
rs1156449323	p.Glu539Lys	missense variant	-	NC_000003.12:g.184577793G>A	gnomAD
rs1363655393	p.Phe540Ser	missense variant	-	NC_000003.12:g.184577797T>C	gnomAD
COSM4115808	p.Glu541Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184577800A>G	NCI-TCGA Cosmic
rs1454640254	p.Thr542Asn	missense variant	-	NC_000003.12:g.184577803C>A	gnomAD
rs368047857	p.Ser544Gly	missense variant	-	NC_000003.12:g.184577808A>G	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Gly547Val	missense variant	-	NC_000003.12:g.184577898G>T	NCI-TCGA
rs1393331336	p.Gly549Glu	missense variant	-	NC_000003.12:g.184577904G>A	gnomAD
NCI-TCGA novel	p.Gly549Trp	missense variant	-	NC_000003.12:g.184577903G>T	NCI-TCGA
NCI-TCGA novel	p.Ala550ProPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.184577903G>-	NCI-TCGA
rs558140041	p.Ala550Thr	missense variant	-	NC_000003.12:g.184577906G>A	1000Genomes,ExAC,gnomAD
rs375352858	p.Gln552His	missense variant	-	NC_000003.12:g.184577914G>T	ESP,ExAC,TOPMed,gnomAD
rs769723157	p.Gln552Leu	missense variant	-	NC_000003.12:g.184577913A>T	ExAC,TOPMed,gnomAD
rs1273747541	p.Gln552Ter	stop gained	-	NC_000003.12:g.184577912C>T	gnomAD
rs1182474348	p.Leu553Phe	missense variant	-	NC_000003.12:g.184577915C>T	gnomAD
rs1250232728	p.Gln554Lys	missense variant	-	NC_000003.12:g.184577918C>A	gnomAD
rs143057646	p.Glu555Gly	missense variant	-	NC_000003.12:g.184577922A>G	ESP,ExAC,TOPMed,gnomAD
rs1254594162	p.Pro558Leu	missense variant	-	NC_000003.12:g.184577931C>T	gnomAD
rs775751510	p.Leu559Phe	missense variant	-	NC_000003.12:g.184577933C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu559ProPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.184577929_184577930insC	NCI-TCGA
rs148220856	p.Ile560Val	missense variant	-	NC_000003.12:g.184577936A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148220856	p.Ile560Phe	missense variant	-	NC_000003.12:g.184577936A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757650148	p.Val561Met	missense variant	-	NC_000003.12:g.184577939G>A	ExAC,gnomAD
rs141148443	p.Ala564Thr	missense variant	-	NC_000003.12:g.184577948G>A	ESP,ExAC,gnomAD
rs1367250993	p.Thr565Ala	missense variant	-	NC_000003.12:g.184577951A>G	TOPMed
rs1375009510	p.Thr565Ile	missense variant	-	NC_000003.12:g.184577952C>T	TOPMed,gnomAD
COSM3590813	p.Ala566Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184577954G>A	NCI-TCGA Cosmic
rs751305478	p.Gly567Val	missense variant	-	NC_000003.12:g.184577958G>T	ExAC,gnomAD
rs1212711281	p.Leu568Phe	missense variant	-	NC_000003.12:g.184577960C>T	gnomAD
rs147361564	p.Val571Leu	missense variant	-	NC_000003.12:g.184577969G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147361564	p.Val571Met	missense variant	-	NC_000003.12:g.184577969G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1423604887	p.Ala573Asp	missense variant	-	NC_000003.12:g.184577976C>A	TOPMed
rs781716924	p.Val575Met	missense variant	-	NC_000003.12:g.184577981G>A	ExAC,TOPMed,gnomAD
rs1267231212	p.Val575Ala	missense variant	-	NC_000003.12:g.184577982T>C	TOPMed
rs781716924	p.Val575Leu	missense variant	-	NC_000003.12:g.184577981G>T	ExAC,TOPMed,gnomAD
rs777836963	p.Val576Ile	missense variant	-	NC_000003.12:g.184577984G>A	ExAC,gnomAD
rs772193071	p.Ala578Thr	missense variant	-	NC_000003.12:g.184577990G>A	ExAC,TOPMed,gnomAD
rs56103851	p.Ile579Val	missense variant	-	NC_000003.12:g.184577993A>G	UniProt,dbSNP
VAR_042178	p.Ile579Val	missense variant	-	NC_000003.12:g.184577993A>G	UniProt
rs56103851	p.Ile579Val	missense variant	-	NC_000003.12:g.184577993A>G	-
rs139326780	p.Val580Ile	missense variant	-	NC_000003.12:g.184577996G>A	ESP,ExAC,TOPMed,gnomAD
rs1430391535	p.Cys581Phe	missense variant	-	NC_000003.12:g.184578000G>T	gnomAD
rs373243700	p.Gln585His	missense variant	-	NC_000003.12:g.184578420G>C	ESP,ExAC,TOPMed,gnomAD
rs1441268317	p.Arg586Gln	missense variant	-	NC_000003.12:g.184578422G>A	TOPMed,gnomAD
rs143288110	p.His587Gln	missense variant	-	NC_000003.12:g.184578426C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His587Tyr	missense variant	-	NC_000003.12:g.184578424C>T	NCI-TCGA
rs143288110	p.His587Gln	missense variant	-	NC_000003.12:g.184578426C>A	ESP,ExAC,TOPMed,gnomAD
rs558627644	p.Gly588Ser	missense variant	-	NC_000003.12:g.184578427G>A	ExAC,gnomAD
rs376314906	p.Ser591Leu	missense variant	-	NC_000003.12:g.184578437C>T	ESP,ExAC,TOPMed,gnomAD
rs184970361	p.Thr594Met	missense variant	-	NC_000003.12:g.184578446C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1212349187	p.Glu595Val	missense variant	-	NC_000003.12:g.184578449A>T	gnomAD
rs1252525335	p.Lys596Asn	missense variant	-	NC_000003.12:g.184578453G>C	gnomAD
rs1473454730	p.Ile601Thr	missense variant	-	NC_000003.12:g.184579477T>C	gnomAD
rs56129875	p.Ile601Leu	missense variant	-	NC_000003.12:g.184578466A>C	-
rs56129875	p.Ile601Leu	missense variant	-	NC_000003.12:g.184578466A>C	UniProt,dbSNP
VAR_042179	p.Ile601Leu	missense variant	-	NC_000003.12:g.184578466A>C	UniProt
rs1185462418	p.Ala602Val	missense variant	-	NC_000003.12:g.184579480C>T	gnomAD
rs1290115860	p.Gly604Val	missense variant	-	NC_000003.12:g.184579486G>T	TOPMed
rs758237101	p.Met605Val	missense variant	-	NC_000003.12:g.184579488A>G	ExAC,TOPMed,gnomAD
rs1475474154	p.Val607Phe	missense variant	-	NC_000003.12:g.184579494G>T	gnomAD
rs540556062	p.Ile609Phe	missense variant	-	NC_000003.12:g.184579500A>T	1000Genomes,TOPMed,gnomAD
rs540556062	p.Ile609Val	missense variant	-	NC_000003.12:g.184579500A>G	1000Genomes,TOPMed,gnomAD
rs1292077521	p.Ile609Thr	missense variant	-	NC_000003.12:g.184579501T>C	TOPMed
NCI-TCGA novel	p.Pro611His	missense variant	-	NC_000003.12:g.184579507C>A	NCI-TCGA
rs200910901	p.Phe612Val	missense variant	-	NC_000003.12:g.184579509T>G	1000Genomes,ExAC,gnomAD
rs147540989	p.Thr613Ile	missense variant	-	NC_000003.12:g.184579513C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs112385651	p.Glu615Lys	missense variant	-	NC_000003.12:g.184579518G>A	ESP,ExAC,TOPMed,gnomAD
COSM730185	p.Asn618Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184579529T>A	NCI-TCGA Cosmic
rs779386061	p.Asn618Asp	missense variant	-	NC_000003.12:g.184579527A>G	ExAC,gnomAD
COSM4604587	p.Glu619Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184579530G>A	NCI-TCGA Cosmic
rs772413999	p.Val621Ile	missense variant	-	NC_000003.12:g.184579536G>A	ExAC,gnomAD
rs763019589	p.Arg622Gln	missense variant	-	NC_000003.12:g.184579540G>A	ExAC,gnomAD
rs1268552150	p.Arg622Trp	missense variant	-	NC_000003.12:g.184579539C>T	TOPMed,gnomAD
COSM6097132	p.Glu627Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184579554G>C	NCI-TCGA Cosmic
rs768211202	p.Asp629Asn	missense variant	-	NC_000003.12:g.184579560G>A	ExAC,gnomAD
rs150037161	p.Val630Met	missense variant	-	NC_000003.12:g.184579563G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val630Leu	missense variant	-	NC_000003.12:g.184579563G>T	NCI-TCGA
NCI-TCGA novel	p.Val633SerPheSerTerUnk	frameshift	-	NC_000003.12:g.184579572G>-	NCI-TCGA
rs767600371	p.Val633Ile	missense variant	-	NC_000003.12:g.184579572G>A	ExAC,gnomAD
rs766161845	p.Val633Ala	missense variant	-	NC_000003.12:g.184579573T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu636Lys	missense variant	-	NC_000003.12:g.184579581G>A	NCI-TCGA
NCI-TCGA novel	p.Val638Ala	missense variant	-	NC_000003.12:g.184579588T>C	NCI-TCGA
rs148754015	p.Ile639Met	missense variant	-	NC_000003.12:g.184579592C>G	ESP,ExAC,TOPMed,gnomAD
rs1312705730	p.Gly640Arg	missense variant	-	NC_000003.12:g.184579593G>A	gnomAD
NCI-TCGA novel	p.Glu643Asp	missense variant	-	NC_000003.12:g.184579691A>C	NCI-TCGA
rs753916557	p.Gly645Glu	missense variant	-	NC_000003.12:g.184579696G>A	ExAC,gnomAD
rs369750575	p.Val647Met	missense variant	-	NC_000003.12:g.184579701G>A	ESP
COSM446109	p.Arg649Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184579708G>C	NCI-TCGA Cosmic
rs534204009	p.Arg649His	missense variant	-	NC_000003.12:g.184579708G>A	ExAC,TOPMed,gnomAD
rs980639494	p.Arg649Cys	missense variant	-	NC_000003.12:g.184579707C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Arg649Ser	missense variant	-	NC_000003.12:g.184579707C>A	NCI-TCGA
rs377144155	p.Gly650Ser	missense variant	-	NC_000003.12:g.184579710G>A	ESP,ExAC,gnomAD
rs1251977584	p.Gly650Asp	missense variant	-	NC_000003.12:g.184579711G>A	TOPMed
rs758750221	p.Arg651Gln	missense variant	-	NC_000003.12:g.184579714G>A	ExAC,gnomAD
rs758750221	p.Arg651Leu	missense variant	-	NC_000003.12:g.184579714G>T	ExAC,gnomAD
rs922729287	p.Gln654Pro	missense variant	-	NC_000003.12:g.184579723A>C	TOPMed,gnomAD
rs1235285565	p.Pro655Ser	missense variant	-	NC_000003.12:g.184579725C>T	gnomAD
rs756380352	p.Arg657Leu	missense variant	-	NC_000003.12:g.184579732G>T	ExAC,TOPMed,gnomAD
rs369095387	p.Arg657Cys	missense variant	-	NC_000003.12:g.184579731C>T	ESP,ExAC,TOPMed,gnomAD
rs756380352	p.Arg657His	missense variant	-	NC_000003.12:g.184579732G>A	ExAC,TOPMed,gnomAD
rs780703655	p.Arg658Ter	stop gained	-	NC_000003.12:g.184579734C>T	ExAC,gnomAD
rs200994037	p.Arg658Gln	missense variant	-	NC_000003.12:g.184579735G>A	TOPMed,gnomAD
rs1310221097	p.Val660Leu	missense variant	-	NC_000003.12:g.184579740G>T	TOPMed
rs772797431	p.Ile664Leu	missense variant	-	NC_000003.12:g.184579752A>C	ExAC,gnomAD
rs1242528938	p.Lys665Arg	missense variant	-	NC_000003.12:g.184579756A>G	TOPMed
rs766794354	p.Thr666Met	missense variant	-	NC_000003.12:g.184579759C>T	ExAC,TOPMed,gnomAD
rs1297621055	p.Tyr671His	missense variant	-	NC_000003.12:g.184579773T>C	TOPMed
rs1382279108	p.Tyr671Cys	missense variant	-	NC_000003.12:g.184579774A>G	gnomAD
rs776860405	p.Thr672Ile	missense variant	-	NC_000003.12:g.184579777C>T	ExAC,TOPMed,gnomAD
rs776860405	p.Thr672Asn	missense variant	-	NC_000003.12:g.184579777C>A	ExAC,TOPMed,gnomAD
rs754275959	p.Glu673Lys	missense variant	-	NC_000003.12:g.184579779G>A	-
rs547253938	p.Arg674Thr	missense variant	-	NC_000003.12:g.184579783G>C	1000Genomes
rs1412525112	p.Gln675Glu	missense variant	-	NC_000003.12:g.184579785C>G	TOPMed
rs55824948	p.Arg676Trp	missense variant	-	NC_000003.12:g.184579788C>T	ESP,ExAC,TOPMed,gnomAD
rs376071253	p.Arg677Trp	missense variant	-	NC_000003.12:g.184579791C>T	ESP,TOPMed,gnomAD
rs1389769224	p.Arg677Gln	missense variant	-	NC_000003.12:g.184579792G>A	TOPMed,gnomAD
rs758617087	p.Asp678Tyr	missense variant	-	NC_000003.12:g.184579794G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser681Asn	missense variant	-	NC_000003.12:g.184579804G>A	NCI-TCGA
rs1212644824	p.Met686Val	missense variant	-	NC_000003.12:g.184579818A>G	gnomAD
rs1273458201	p.Gly687Ser	missense variant	-	NC_000003.12:g.184579821G>A	gnomAD
rs1193582660	p.Asp690Asn	missense variant	-	NC_000003.12:g.184579830G>A	gnomAD
rs748640484	p.Pro692Ala	missense variant	-	NC_000003.12:g.184579836C>G	ExAC,gnomAD
rs755668878	p.Asn693Ser	missense variant	-	NC_000003.12:g.184579840A>G	ExAC,TOPMed,gnomAD
rs371900672	p.Ile695Thr	missense variant	-	NC_000003.12:g.184579846T>C	ESP,ExAC,gnomAD
rs1475104653	p.Arg696Trp	missense variant	-	NC_000003.12:g.184579848C>T	TOPMed,gnomAD
rs748921352	p.Arg696Gln	missense variant	-	NC_000003.12:g.184579849G>A	ExAC,TOPMed,gnomAD
rs371079069	p.Glu698Lys	missense variant	-	NC_000003.12:g.184579854G>A	ESP,ExAC,TOPMed,gnomAD
rs771992201	p.Val700Met	missense variant	-	NC_000003.12:g.184579860G>A	ExAC,gnomAD
rs1290179963	p.Val701Phe	missense variant	-	NC_000003.12:g.184579863G>T	gnomAD
rs760669239	p.Lys703Arg	missense variant	-	NC_000003.12:g.184579870A>G	ExAC,gnomAD
rs746516826	p.Ser704Ile	missense variant	-	NC_000003.12:g.184579873G>T	ExAC,TOPMed,gnomAD
rs746516826	p.Ser704Asn	missense variant	-	NC_000003.12:g.184579873G>A	ExAC,TOPMed,gnomAD
rs773303627	p.Arg705Trp	missense variant	-	NC_000003.12:g.184579875C>T	ExAC,TOPMed,gnomAD
rs1224865732	p.Arg705Gln	missense variant	-	NC_000003.12:g.184579876G>A	gnomAD
rs1259662067	p.Pro706Thr	missense variant	-	NC_000003.12:g.184579878C>A	gnomAD
rs757806643	p.Pro706Leu	missense variant	-	NC_000003.12:g.184579879C>T	ExAC,gnomAD
COSM4115810	p.Ile709Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184579887A>C	NCI-TCGA Cosmic
rs766565475	p.Ile709Val	missense variant	-	NC_000003.12:g.184579887A>G	ExAC,gnomAD
rs1485516479	p.Phe713Leu	missense variant	-	NC_000003.12:g.184579899T>C	gnomAD
rs1485516479	p.Phe713Ile	missense variant	-	NC_000003.12:g.184579899T>A	gnomAD
NCI-TCGA novel	p.Met714Leu	missense variant	-	NC_000003.12:g.184579902A>C	NCI-TCGA
rs767844481	p.Met714Thr	missense variant	-	NC_000003.12:g.184579903T>C	ExAC,gnomAD
rs753240727	p.Glu715Lys	missense variant	-	NC_000003.12:g.184579905G>A	ExAC,gnomAD
rs1426946874	p.Cys717Arg	missense variant	-	NC_000003.12:g.184579911T>C	gnomAD
NCI-TCGA novel	p.Cys717Ter	stop gained	-	NC_000003.12:g.184579913C>A	NCI-TCGA
COSM730184	p.Ala718Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184579914G>T	NCI-TCGA Cosmic
rs777166808	p.Ala718Thr	missense variant	-	NC_000003.12:g.184579914G>A	ExAC,TOPMed,gnomAD
rs753327984	p.Asp720His	missense variant	-	NC_000003.12:g.184579920G>C	ExAC,gnomAD
rs371378866	p.Arg724Trp	missense variant	-	NC_000003.12:g.184579932C>T	1000Genomes,ESP,ExAC,gnomAD
rs371378866	p.Arg724Trp	missense variant	-	NC_000003.12:g.184579932C>T	UniProt,dbSNP
VAR_042180	p.Arg724Trp	missense variant	-	NC_000003.12:g.184579932C>T	UniProt
rs368055350	p.Arg724Gln	missense variant	-	NC_000003.12:g.184579933G>A	ESP,ExAC,TOPMed,gnomAD
rs368055350	p.Arg724Leu	missense variant	-	NC_000003.12:g.184579933G>T	ESP,ExAC,TOPMed,gnomAD
COSM4115811	p.Asn726Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580407C>A	NCI-TCGA Cosmic
rs367573706	p.Asn726Lys	missense variant	-	NC_000003.12:g.184580407C>G	ESP,ExAC,TOPMed,gnomAD
rs34170386	p.Asp727Tyr	missense variant	-	NC_000003.12:g.184580408G>T	ExAC,gnomAD
rs34170386	p.Asp727Asn	missense variant	-	NC_000003.12:g.184580408G>A	ExAC,gnomAD
rs1326494826	p.Gln729Pro	missense variant	-	NC_000003.12:g.184580415A>C	gnomAD
rs1370218915	p.Phe730Leu	missense variant	-	NC_000003.12:g.184580419C>A	TOPMed,gnomAD
rs1217426361	p.Thr731Ala	missense variant	-	NC_000003.12:g.184580420A>G	gnomAD
rs1261462043	p.Thr731Met	missense variant	-	NC_000003.12:g.184580421C>T	TOPMed,gnomAD
rs1209726404	p.Val732Ala	missense variant	-	NC_000003.12:g.184580424T>C	TOPMed
COSM730183	p.Met738Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580441A>T	NCI-TCGA Cosmic
rs781247528	p.Met738Thr	missense variant	-	NC_000003.12:g.184580442T>C	ExAC,TOPMed,gnomAD
COSM70634	p.Leu739Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580446G>C	NCI-TCGA Cosmic
COSM4968838	p.Arg740Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580447C>T	NCI-TCGA Cosmic
rs1317296938	p.Arg740Gln	missense variant	-	NC_000003.12:g.184580448G>A	gnomAD
rs1236240465	p.Ile742Val	missense variant	-	NC_000003.12:g.184580453A>G	TOPMed
rs1398671390	p.Ala744Thr	missense variant	-	NC_000003.12:g.184580459G>A	gnomAD
rs1266529706	p.Gly745Ser	missense variant	-	NC_000003.12:g.184580462G>A	gnomAD
rs774373853	p.Gly745Val	missense variant	-	NC_000003.12:g.184580463G>T	ExAC,gnomAD
COSM4931102	p.Leu749Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580475T>A	NCI-TCGA Cosmic
COSM1042098	p.Leu749Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580474C>A	NCI-TCGA Cosmic
rs764357218	p.Glu751Lys	missense variant	-	NC_000003.12:g.184580480G>A	ExAC,TOPMed,gnomAD
COSM1205519	p.Met752Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580485G>A	NCI-TCGA Cosmic
rs777247629	p.Met752Thr	missense variant	-	NC_000003.12:g.184580484T>C	ExAC,TOPMed,gnomAD
rs762197883	p.Tyr754Asp	missense variant	-	NC_000003.12:g.184580489T>G	ExAC,gnomAD
rs1289356410	p.Arg757Cys	missense variant	-	NC_000003.12:g.184580498C>T	TOPMed,gnomAD
rs1212017391	p.Asp758Gly	missense variant	-	NC_000003.12:g.184580502A>G	gnomAD
COSM1421396	p.Arg762Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580513C>T	NCI-TCGA Cosmic
rs1452194148	p.Arg762His	missense variant	-	NC_000003.12:g.184580514G>A	gnomAD
rs1231317780	p.Ile764Asn	missense variant	-	NC_000003.12:g.184580520T>A	TOPMed,gnomAD
rs758138726	p.Val766Ala	missense variant	-	NC_000003.12:g.184580526T>C	ExAC,gnomAD
rs1162284145	p.Asn769Asp	missense variant	-	NC_000003.12:g.184580534A>G	gnomAD
rs754850312	p.Leu770Val	missense variant	-	NC_000003.12:g.184580537C>G	ExAC,TOPMed,gnomAD
rs780819080	p.Val771Ala	missense variant	-	NC_000003.12:g.184580541T>C	ExAC,gnomAD
COSM3590817	p.Ser775Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580553C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp776ThrPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.184580554A>-	NCI-TCGA
COSM6164091	p.Gly778Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580561G>T	NCI-TCGA Cosmic
rs372396917	p.Arg781Cys	missense variant	-	NC_000003.12:g.184580570C>T	ESP,ExAC,TOPMed,gnomAD
rs745879472	p.Arg781His	missense variant	-	NC_000003.12:g.184580571G>A	ExAC,TOPMed,gnomAD
rs772129945	p.Phe782Val	missense variant	-	NC_000003.12:g.184580573T>G	ExAC
rs1036010431	p.Asp785Asn	missense variant	-	NC_000003.12:g.184580582G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asp785Gly	missense variant	-	NC_000003.12:g.184580583A>G	NCI-TCGA
rs1357317283	p.Asp786Gly	missense variant	-	NC_000003.12:g.184580586A>G	gnomAD
rs747181480	p.Asp786Asn	missense variant	-	NC_000003.12:g.184580585G>A	ExAC,gnomAD
COSM3590818	p.Pro787Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580588C>T	NCI-TCGA Cosmic
rs146519815	p.Ser788Tyr	missense variant	-	NC_000003.12:g.184580592C>A	ESP,ExAC,TOPMed,gnomAD
rs146519815	p.Ser788Phe	missense variant	-	NC_000003.12:g.184580592C>T	ESP,ExAC,TOPMed,gnomAD
rs146519815	p.Ser788Cys	missense variant	-	NC_000003.12:g.184580592C>G	ESP,ExAC,TOPMed,gnomAD
COSM4115814	p.Asp789Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580594G>A	NCI-TCGA Cosmic
rs1204301997	p.Pro790Leu	missense variant	-	NC_000003.12:g.184580598C>T	gnomAD
rs772853395	p.Thr791Ala	missense variant	-	NC_000003.12:g.184580600A>G	ExAC,TOPMed,gnomAD
COSM3590819	p.Ser795Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580613C>T	NCI-TCGA Cosmic
rs1173606859	p.Gly797Asp	missense variant	-	NC_000003.12:g.184580730G>A	gnomAD
NCI-TCGA novel	p.Gly797Cys	missense variant	-	NC_000003.12:g.184580729G>T	NCI-TCGA
rs752387778	p.Gly798Arg	missense variant	-	NC_000003.12:g.184580732G>A	ExAC,TOPMed,gnomAD
rs150152730	p.Ile800Leu	missense variant	-	NC_000003.12:g.184580738A>C	ESP,ExAC,TOPMed,gnomAD
rs763850697	p.Ile802Leu	missense variant	-	NC_000003.12:g.184580744A>C	ExAC,TOPMed,gnomAD
rs753817157	p.Arg803His	missense variant	-	NC_000003.12:g.184580748G>A	ExAC,gnomAD
rs928574732	p.Arg803Cys	missense variant	-	NC_000003.12:g.184580747C>T	TOPMed,gnomAD
rs753817157	p.Arg803Leu	missense variant	-	NC_000003.12:g.184580748G>T	ExAC,gnomAD
COSM6097131	p.Trp804Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580752G>T	NCI-TCGA Cosmic
rs757148735	p.Ala806Gly	missense variant	-	NC_000003.12:g.184580757C>G	ExAC,gnomAD
rs575214989	p.Pro807Ser	missense variant	-	NC_000003.12:g.184580759C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs374567246	p.Arg813Trp	missense variant	-	NC_000003.12:g.184580777C>T	ESP,ExAC,TOPMed,gnomAD
rs374567246	p.Arg813Gly	missense variant	-	NC_000003.12:g.184580777C>G	ESP,ExAC,TOPMed,gnomAD
rs781335594	p.Arg813Gln	missense variant	-	NC_000003.12:g.184580778G>A	ExAC,TOPMed,gnomAD
rs1464152374	p.Phe815Val	missense variant	-	NC_000003.12:g.184580783T>G	gnomAD
rs964094229	p.Ala818Val	missense variant	-	NC_000003.12:g.184580793C>T	TOPMed
NCI-TCGA novel	p.Ser819Thr	missense variant	-	NC_000003.12:g.184580796G>C	NCI-TCGA
COSM1484921	p.Asp820Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580798G>A	NCI-TCGA Cosmic
rs770322127	p.Trp822Ter	stop gained	-	NC_000003.12:g.184580805G>A	ExAC,gnomAD
rs749833291	p.Gly825Arg	missense variant	-	NC_000003.12:g.184580813G>A	ExAC,gnomAD
rs920048509	p.Val827Ile	missense variant	-	NC_000003.12:g.184580819G>A	gnomAD
rs771505755	p.Met828Thr	missense variant	-	NC_000003.12:g.184580823T>C	ExAC,gnomAD
rs201145215	p.Trp829Arg	missense variant	-	NC_000003.12:g.184580825T>C	1000Genomes,gnomAD
rs1457942350	p.Val831Gly	missense variant	-	NC_000003.12:g.184580832T>G	gnomAD
rs200524500	p.Met832Thr	missense variant	-	NC_000003.12:g.184580835T>C	1000Genomes
rs773914022	p.Ser833Arg	missense variant	-	NC_000003.12:g.184580839C>G	ExAC,gnomAD
rs759032023	p.Tyr834Cys	missense variant	-	NC_000003.12:g.184580841A>G	ExAC,gnomAD
rs1331610227	p.Glu836Asp	missense variant	-	NC_000003.12:g.184580848G>T	gnomAD
rs1300428807	p.Glu836Lys	missense variant	-	NC_000003.12:g.184580846G>A	gnomAD
rs1235401341	p.Arg837Gln	missense variant	-	NC_000003.12:g.184580850G>A	TOPMed,gnomAD
rs1234028773	p.Met842Leu	missense variant	-	NC_000003.12:g.184580864A>C	gnomAD
rs775050966	p.Met842Lys	missense variant	-	NC_000003.12:g.184580865T>A	ExAC,TOPMed,gnomAD
rs1377817962	p.Met842Ile	missense variant	-	NC_000003.12:g.184580866G>C	TOPMed
rs1328272606	p.Gln845Ter	stop gained	-	NC_000003.12:g.184580873C>T	gnomAD
rs1269650298	p.Asp846Asn	missense variant	-	NC_000003.12:g.184580876G>A	gnomAD
rs771519161	p.Ala850Val	missense variant	-	NC_000003.12:g.184580982C>T	ExAC,gnomAD
rs746361056	p.Ala850Thr	missense variant	-	NC_000003.12:g.184580981G>A	ExAC,TOPMed
rs746690662	p.Val851Leu	missense variant	-	NC_000003.12:g.184580984G>C	ExAC,TOPMed,gnomAD
rs746690662	p.Val851Met	missense variant	-	NC_000003.12:g.184580984G>A	ExAC,TOPMed,gnomAD
rs776416091	p.Gln853Glu	missense variant	-	NC_000003.12:g.184580990C>G	ExAC,gnomAD
rs563209426	p.Arg856Gln	missense variant	-	NC_000003.12:g.184581000G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs761663522	p.Arg856Trp	missense variant	-	NC_000003.12:g.184580999C>T	ExAC,TOPMed,gnomAD
rs370476366	p.Pro859Leu	missense variant	-	NC_000003.12:g.184581009C>T	ESP,TOPMed
rs773074850	p.Pro859Ser	missense variant	-	NC_000003.12:g.184581008C>T	ExAC,gnomAD
rs762906708	p.Pro860Ser	missense variant	-	NC_000003.12:g.184581011C>T	ExAC,TOPMed,gnomAD
rs762906708	p.Pro860Thr	missense variant	-	NC_000003.12:g.184581011C>A	ExAC,TOPMed,gnomAD
rs1165799669	p.Pro860Leu	missense variant	-	NC_000003.12:g.184581012C>T	gnomAD
COSM1421398	p.Met861Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184581015T>C	NCI-TCGA Cosmic
rs1166574205	p.Met861Ile	missense variant	-	NC_000003.12:g.184581016G>A	gnomAD
rs752766874	p.Met861Leu	missense variant	-	NC_000003.12:g.184581014A>C	ExAC,gnomAD
rs756408034	p.Ala866Glu	missense variant	-	NC_000003.12:g.184581030C>A	ExAC,gnomAD
rs1309605764	p.Leu870His	missense variant	-	NC_000003.12:g.184581042T>A	gnomAD
rs1395057131	p.Asp873Gly	missense variant	-	NC_000003.12:g.184581051A>G	gnomAD
rs754095515	p.Asp873Tyr	missense variant	-	NC_000003.12:g.184581050G>T	ExAC,gnomAD
COSM4924851	p.Val876Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184581060T>G	NCI-TCGA Cosmic
rs1313022937	p.Val876Met	missense variant	-	NC_000003.12:g.184581059G>A	gnomAD
rs779302587	p.Arg877Gln	missense variant	-	NC_000003.12:g.184581063G>A	ExAC,TOPMed,gnomAD
rs373987540	p.Arg877Trp	missense variant	-	NC_000003.12:g.184581062C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp878ThrPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.184581064_184581065insACTGCTGGGTGTGT	NCI-TCGA
rs367858130	p.Arg879Trp	missense variant	-	NC_000003.12:g.184581068C>T	ESP,ExAC,TOPMed,gnomAD
rs779557910	p.Arg879Gln	missense variant	-	NC_000003.12:g.184581069G>A	ExAC,gnomAD
rs1255811150	p.Asn880Thr	missense variant	-	NC_000003.12:g.184581072A>C	gnomAD
COSM1484922	p.Leu881His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184581075T>A	NCI-TCGA Cosmic
rs776323145	p.Phe885Leu	missense variant	-	NC_000003.12:g.184581086T>C	ExAC,gnomAD
NCI-TCGA novel	p.Phe885Leu	missense variant	-	NC_000003.12:g.184581088C>A	NCI-TCGA
rs1375491503	p.Gln887His	missense variant	-	NC_000003.12:g.184581094G>T	TOPMed
rs1426740311	p.Ile888Val	missense variant	-	NC_000003.12:g.184581095A>G	gnomAD
rs1277732227	p.Ile888Thr	missense variant	-	NC_000003.12:g.184581096T>C	TOPMed
NCI-TCGA novel	p.Ile888Asn	missense variant	-	NC_000003.12:g.184581096T>A	NCI-TCGA
rs1415559393	p.Val889Leu	missense variant	-	NC_000003.12:g.184581098G>C	gnomAD
rs1188001455	p.Thr891Asn	missense variant	-	NC_000003.12:g.184581105C>A	gnomAD
COSM730182	p.Lys894Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184581113A>G	NCI-TCGA Cosmic
rs769518076	p.Lys894Asn	missense variant	-	NC_000003.12:g.184581115G>C	ExAC,gnomAD
rs760955586	p.Leu895Phe	missense variant	-	NC_000003.12:g.184581116C>T	ExAC,TOPMed,gnomAD
rs760955586	p.Leu895Ile	missense variant	-	NC_000003.12:g.184581116C>A	ExAC,TOPMed,gnomAD
rs1357171765	p.Arg897Leu	missense variant	-	NC_000003.12:g.184581123G>T	TOPMed,gnomAD
rs762809259	p.Arg897Cys	missense variant	-	NC_000003.12:g.184581122C>T	ExAC,TOPMed,gnomAD
rs1357171765	p.Arg897His	missense variant	-	NC_000003.12:g.184581123G>A	TOPMed,gnomAD
rs774425967	p.Asn898Ser	missense variant	-	NC_000003.12:g.184581126A>G	ExAC,gnomAD
rs1374461997	p.Ala899Gly	missense variant	-	NC_000003.12:g.184581129C>G	TOPMed
rs199632514	p.Ala900Val	missense variant	-	NC_000003.12:g.184581132C>T	1000Genomes,gnomAD
rs764242189	p.Val904Ile	missense variant	-	NC_000003.12:g.184581143G>A	ExAC,TOPMed,gnomAD
rs893591288	p.Ile905Val	missense variant	-	NC_000003.12:g.184581146A>G	gnomAD
rs754150783	p.Ala906Thr	missense variant	-	NC_000003.12:g.184581149G>A	ExAC,gnomAD
rs551443278	p.Ser907Arg	missense variant	-	NC_000003.12:g.184581154C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs765545961	p.Ala908Thr	missense variant	-	NC_000003.12:g.184581155G>A	ExAC,TOPMed,gnomAD
rs765545961	p.Ala908Ser	missense variant	-	NC_000003.12:g.184581155G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln909Ter	stop gained	-	NC_000003.12:g.184581158C>T	NCI-TCGA
rs758837913	p.Ser910Pro	missense variant	-	NC_000003.12:g.184581161T>C	ExAC,gnomAD
rs147185039	p.Gly911Arg	missense variant	-	NC_000003.12:g.184581164G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1208298412	p.Met912Val	missense variant	-	NC_000003.12:g.184581254A>G	TOPMed,gnomAD
rs1208298412	p.Met912Leu	missense variant	-	NC_000003.12:g.184581254A>T	TOPMed,gnomAD
rs768884957	p.Met912Ile	missense variant	-	NC_000003.12:g.184581256G>A	ExAC,TOPMed,gnomAD
rs759513444	p.Met912Thr	missense variant	-	NC_000003.12:g.184581255T>C	ExAC,gnomAD
rs776806796	p.Arg919Cys	missense variant	-	NC_000003.12:g.184581275C>T	ExAC,TOPMed,gnomAD
rs761956753	p.Arg919Leu	missense variant	-	NC_000003.12:g.184581276G>T	ExAC,TOPMed,gnomAD
rs761956753	p.Arg919His	missense variant	-	NC_000003.12:g.184581276G>A	ExAC,TOPMed,gnomAD
rs1488106731	p.Thr920Met	missense variant	-	NC_000003.12:g.184581279C>T	TOPMed,gnomAD
rs750610363	p.Val921Ile	missense variant	-	NC_000003.12:g.184581281G>A	ExAC,TOPMed,gnomAD
rs1471500854	p.Pro922Ser	missense variant	-	NC_000003.12:g.184581284C>T	gnomAD
rs1157884908	p.Asp923Tyr	missense variant	-	NC_000003.12:g.184581287G>T	gnomAD
NCI-TCGA novel	p.Tyr924Cys	missense variant	-	NC_000003.12:g.184581291A>G	NCI-TCGA
rs143430250	p.Thr926Ser	missense variant	-	NC_000003.12:g.184581297C>G	ESP,ExAC,TOPMed,gnomAD
rs143430250	p.Thr926Asn	missense variant	-	NC_000003.12:g.184581297C>A	ESP,ExAC,TOPMed,gnomAD
rs143430250	p.Thr926Ile	missense variant	-	NC_000003.12:g.184581297C>T	ESP,ExAC,TOPMed,gnomAD
rs372221231	p.Thr926Ala	missense variant	-	NC_000003.12:g.184581296A>G	ESP,ExAC,TOPMed,gnomAD
rs752102362	p.Thr928Met	missense variant	-	NC_000003.12:g.184581303C>T	ExAC,TOPMed,gnomAD
rs1357687152	p.Val930Ala	missense variant	-	NC_000003.12:g.184581309T>C	gnomAD
rs1295829988	p.Val930Ile	missense variant	-	NC_000003.12:g.184581308G>A	gnomAD
rs1228175728	p.Asp932Gly	missense variant	-	NC_000003.12:g.184581315A>G	gnomAD
rs1484978796	p.Asp932Asn	missense variant	-	NC_000003.12:g.184581314G>A	TOPMed
rs202198661	p.Gly940Glu	missense variant	-	NC_000003.12:g.184581339G>A	ESP,ExAC,TOPMed,gnomAD
rs202198661	p.Gly940Ala	missense variant	-	NC_000003.12:g.184581339G>C	ESP,ExAC,TOPMed,gnomAD
rs571252781	p.Arg941Gln	missense variant	-	NC_000003.12:g.184581342G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs770886313	p.Arg941Trp	missense variant	-	NC_000003.12:g.184581341C>T	ExAC,gnomAD
rs745819860	p.Tyr942Phe	missense variant	-	NC_000003.12:g.184581345A>T	ExAC,TOPMed,gnomAD
rs1481913744	p.Lys943Glu	missense variant	-	NC_000003.12:g.184581347A>G	gnomAD
rs942981661	p.Ser945Asn	missense variant	-	NC_000003.12:g.184581354G>A	TOPMed
rs557737284	p.Ser945Arg	missense variant	-	NC_000003.12:g.184581355C>G	1000Genomes,gnomAD
rs201579004	p.Val947Ile	missense variant	-	NC_000003.12:g.184581359G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Val947Phe	missense variant	-	NC_000003.12:g.184581359G>T	NCI-TCGA
rs1405463515	p.Ala949Thr	missense variant	-	NC_000003.12:g.184581365G>A	gnomAD
rs773532061	p.Ala949Val	missense variant	-	NC_000003.12:g.184581366C>T	ExAC,gnomAD
rs1308996395	p.Gly950Glu	missense variant	-	NC_000003.12:g.184581369G>A	gnomAD
rs766762619	p.Gly950Arg	missense variant	-	NC_000003.12:g.184581368G>A	ExAC,gnomAD
COSM4892564	p.Phe951Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184581372T>G	NCI-TCGA Cosmic
COSM3590823	p.Ser953Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184581378C>T	NCI-TCGA Cosmic
rs1283844442	p.Asp955Val	missense variant	-	NC_000003.12:g.184581384A>T	gnomAD
rs1357073362	p.Asp955Glu	missense variant	-	NC_000003.12:g.184581385C>G	gnomAD
NCI-TCGA novel	p.Leu956ProPheSerTerUnkUnkUnk	frameshift	-	NC_000003.12:g.184581384_184581385insC	NCI-TCGA
rs1339954996	p.Met960Thr	missense variant	-	NC_000003.12:g.184581399T>C	gnomAD
rs753131023	p.Met960Ile	missense variant	-	NC_000003.12:g.184581400G>T	ExAC,gnomAD
rs574118020	p.Thr961Met	missense variant	-	NC_000003.12:g.184581402C>T	1000Genomes,ExAC,gnomAD
rs763476526	p.Ala962Ser	missense variant	-	NC_000003.12:g.184581404G>T	ExAC,TOPMed,gnomAD
rs763476526	p.Ala962Thr	missense variant	-	NC_000003.12:g.184581404G>A	ExAC,TOPMed,gnomAD
rs753227216	p.Asp964Glu	missense variant	-	NC_000003.12:g.184581517C>A	ExAC,TOPMed,gnomAD
rs756976275	p.Leu965Val	missense variant	-	NC_000003.12:g.184581518C>G	ExAC,gnomAD
COSM1308900	p.Arg967Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184581525G>T	NCI-TCGA Cosmic
rs779683047	p.Arg967Cys	missense variant	-	NC_000003.12:g.184581524C>T	ExAC,TOPMed,gnomAD
rs890270833	p.Arg967His	missense variant	-	NC_000003.12:g.184581525G>A	TOPMed,gnomAD
rs749686296	p.Val970Ile	missense variant	-	NC_000003.12:g.184581533G>A	TOPMed
rs746999423	p.Thr971Ala	missense variant	-	NC_000003.12:g.184581536A>G	ExAC,gnomAD
rs754824776	p.Leu972Pro	missense variant	-	NC_000003.12:g.184581540T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala973Thr	missense variant	-	NC_000003.12:g.184581542G>A	NCI-TCGA
rs971902193	p.His975Arg	missense variant	-	NC_000003.12:g.184581549A>G	TOPMed,gnomAD
rs1231049158	p.His975Tyr	missense variant	-	NC_000003.12:g.184581548C>T	gnomAD
rs749436110	p.Ile979Asn	missense variant	-	NC_000003.12:g.184581561T>A	ExAC,gnomAD
rs1224921793	p.Ser982Thr	missense variant	-	NC_000003.12:g.184581570G>C	TOPMed,gnomAD
rs1224921793	p.Ser982Asn	missense variant	-	NC_000003.12:g.184581570G>A	TOPMed,gnomAD
rs1250491402	p.Gln984Glu	missense variant	-	NC_000003.12:g.184581575C>G	TOPMed
rs770984953	p.Met986Leu	missense variant	-	NC_000003.12:g.184581581A>T	ExAC,TOPMed,gnomAD
rs774604679	p.Met986Thr	missense variant	-	NC_000003.12:g.184581582T>C	ExAC,TOPMed,gnomAD
rs539714486	p.Arg987Trp	missense variant	-	NC_000003.12:g.184581584C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs775664957	p.Arg987Gln	missense variant	-	NC_000003.12:g.184581585G>A	ExAC,TOPMed,gnomAD
rs370131010	p.Met990Val	missense variant	-	NC_000003.12:g.184581593A>G	ESP,ExAC,TOPMed,gnomAD
rs764445140	p.Asn991Ser	missense variant	-	NC_000003.12:g.184581597A>G	ExAC,gnomAD
rs1378532830	p.Asn991Lys	missense variant	-	NC_000003.12:g.184581598C>G	gnomAD
rs200546160	p.Thr993Arg	missense variant	-	NC_000003.12:g.184581603C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs200546160	p.Thr993Met	missense variant	-	NC_000003.12:g.184581603C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM3846902	p.Pro995Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184581608C>T	NCI-TCGA Cosmic
rs764822427	p.Pro995Leu	missense variant	-	NC_000003.12:g.184581609C>T	ExAC,gnomAD
rs750141705	p.Val996Met	missense variant	-	NC_000003.12:g.184581611G>A	ExAC,gnomAD
rs1388719047	p.Gln997His	missense variant	-	NC_000003.12:g.184581616G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gln997Lys	missense variant	-	NC_000003.12:g.184581614C>A	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001430	Adenoma	group	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0032580	Adenomatous Polyposis Coli	disease	BEFREE
C0149782	Squamous cell carcinoma of lung	disease	BEFREE
C0149925	Small cell carcinoma of lung	disease	UNIPROT
C0699790	Colon Carcinoma	disease	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IBA
GO:0005003	ephrin receptor activity	IDA
GO:0005524	ATP binding	IEA
GO:0008046	axon guidance receptor activity	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001525	angiogenesis	ISS
GO:0001655	urogenital system development	ISS
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IBA
GO:0007275	multicellular organism development	IBA
GO:0007411	axon guidance	ISS
GO:0007413	axonal fasciculation	ISS
GO:0016477	cell migration	IDA
GO:0018108	peptidyl-tyrosine phosphorylation	IEA
GO:0021952	central nervous system projection neuron axonogenesis	IEA
GO:0022038	corpus callosum development	ISS
GO:0022407	regulation of cell-cell adhesion	IDA
GO:0031290	retinal ganglion cell axon guidance	IEA
GO:0033674	positive regulation of kinase activity	IBA
GO:0034446	substrate adhesion-dependent cell spreading	IDA
GO:0043087	regulation of GTPase activity	IDA
GO:0046777	protein autophosphorylation	IDA
GO:0048013	ephrin receptor signaling pathway	IDA
GO:0048013	ephrin receptor signaling pathway	TAS
GO:0048538	thymus development	ISS
GO:0048546	digestive tract morphogenesis	ISS
GO:0050770	regulation of axonogenesis	ISS
GO:0051965	positive regulation of synapse assembly	ISS
GO:0060021	roof of mouth development	ISS
GO:0060996	dendritic spine development	ISS
GO:0060997	dendritic spine morphogenesis	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	TAS
GO:0005829	cytosol	TAS
GO:0005886	plasma membrane	TAS
GO:0005887	integral component of plasma membrane	IDA
GO:0005887	integral component of plasma membrane	IBA
GO:0030425	dendrite	IEA
GO:0043235	receptor complex	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1266738	Developmental Biology	TAS
R-HSA-1266738	Developmental Biology	IEA
R-HSA-2682334	EPH-Ephrin signaling	TAS
R-HSA-2682334	EPH-Ephrin signaling	IEA
R-HSA-3928662	EPHB-mediated forward signaling	TAS
R-HSA-3928662	EPHB-mediated forward signaling	IEA
R-HSA-3928664	Ephrin signaling	IEA
R-HSA-3928664	Ephrin signaling	TAS
R-HSA-3928665	EPH-ephrin mediated repulsion of cells	TAS
R-HSA-422475	Axon guidance	TAS
R-HSA-422475	Axon guidance	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C046760	15-acetyldeoxynivalenol	15-acetyldeoxynivalenol results in increased expression of EPHB3 mRNA	23792671
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in increased expression of EPHB3 mRNA	30723492
C548651	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in decreased expression of EPHB3 mRNA	19933214
D015081	2-Naphthylamine	2-Naphthylamine results in increased expression of EPHB3 mRNA	18247414
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 EPHB3 mRNA	27188386
C496492	abrine	abrine results in decreased expression of EPHB3 mRNA	31054353
D000082	Acetaminophen	Acetaminophen affects the expression of EPHB3 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of EPHB3 mRNA	23630614
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of EPHB3 mRNA	24449571
D001151	Arsenic	Arsenic affects the methylation of EPHB3 gene	25304211
D001280	Atrazine	Atrazine results in increased expression of EPHB3 mRNA	22378314
C547126	AZM551248	AZM551248 results in increased expression of EPHB3 mRNA	22323515
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of EPHB3 mRNA	26001963
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of EPHB3 mRNA	18247414
C006780	bisphenol A	bisphenol A results in decreased expression of EPHB3 mRNA	27685785
C006780	bisphenol A	bisphenol A results in decreased expression of EPHB3 mRNA	25181051
C005961	bis(tri-n-butyltin)oxide	bis(tri-n-butyltin)oxide results in increased expression of EPHB3 mRNA	18958704
C018475	butyraldehyde	butyraldehyde results in increased expression of EPHB3 mRNA	26079696
C074702	chromium hexavalent ion	chromium hexavalent ion affects the expression of EPHB3 mRNA	28472532
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of EPHB3 mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of EPHB3 mRNA	27392435
D002945	Cisplatin	[Cisplatin co-treated with RELB mutant form co-treated with TNF protein] results in increased expression of EPHB3 mRNA	23625948
D003042	Cocaine	Cocaine affects the expression of EPHB3 mRNA	15691709
D003993	Dibutyl Phthalate	Dibutyl Phthalate affects the expression of EPHB3 mRNA	30934153
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 EPHB3 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of EPHB3 mRNA	29803840
D013759	Dronabinol	Dronabinol affects the methylation of EPHB3 gene	26044905
D000431	Ethanol	Ethanol results in increased expression of EPHB3 mRNA	30319688
C069837	fullerene C60	fullerene C60 results in increased expression of EPHB3 mRNA	19167457
C039281	furan	furan results in decreased methylation of EPHB3 gene	27387713
C039281	furan	furan results in increased expression of EPHB3 mRNA	27387713
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of EPHB3 mRNA	25613284
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of EPHB3 mRNA	27392435
C008261	lead acetate	lead acetate results in decreased expression of EPHB3 mRNA	11578147
D008769	Methylnitronitrosoguanidine	Methylnitronitrosoguanidine results in decreased expression of EPHB3 mRNA	12634122
C406082	monomethylarsonous acid	monomethylarsonous acid results in decreased expression of EPHB3 mRNA	20024957
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of EPHB3 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of EPHB3 mRNA	25554681
C028007	nickel monoxide	nickel monoxide results in increased expression of EPHB3 mRNA	19167457
D009538	Nicotine	Nicotine results in decreased expression of EPHB3 mRNA	18247414
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of EPHB3 mRNA	20188158
D052638	Particulate Matter	Particulate Matter results in decreased expression of EPHB3 mRNA	29703138
C545373	ponatinib	ponatinib results in decreased activity of EPHB3 protein	19878872
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of EPHB3 mRNA	23608068
C005556	propionaldehyde	propionaldehyde results in increased expression of EPHB3 mRNA	26079696
D011441	Propylthiouracil	Propylthiouracil affects the expression of EPHB3 mRNA	24780913
D011441	Propylthiouracil	Propylthiouracil results in increased expression of EPHB3 mRNA	24780913
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of EPHB3 mRNA	25895662
C017947	sodium arsenite	sodium arsenite affects the methylation of EPHB3 gene	28589171
D012999	Soman	Soman results in decreased expression of EPHB3 mRNA	19281266
D000077210	Sunitinib	Sunitinib results in increased expression of EPHB3 mRNA	31533062
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in decreased expression of EPHB3 mRNA	25172293
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of EPHB3 mRNA	19933214
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of EPHB3 mRNA	25613284
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of EPHB3 mRNA	28065790
D014212	Tretinoin	Tretinoin affects the expression of EPHB3 mRNA	16251210
D014212	Tretinoin	Tretinoin results in increased expression of EPHB3 mRNA	23724009
D014241	Trichloroethylene	Trichloroethylene results in decreased expression of EPHB3 mRNA	15363585
D014302	Trinitrobenzenesulfonic Acid	Trinitrobenzenesulfonic Acid results in increased expression of EPHB3 mRNA	17982090
D014520	Urethane	Urethane results in increased expression of EPHB3 mRNA	28818685
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 EPHB3 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in increased expression of EPHB3 mRNA	24383497; 26272509;
D014635	Valproic Acid	Valproic Acid affects the expression of EPHB3 mRNA	17292431
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of EPHB3 gene	25560391
D000077211	Zoledronic Acid	Zoledronic Acid results in decreased expression of EPHB3 mRNA	24714768

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0037	Angiogenesis
KW-0067	ATP-binding
KW-1003	Cell membrane
KW-0966	Cell projection
KW-0217	Developmental protein
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0418	Kinase
KW-0472	Membrane
KW-0524	Neurogenesis
KW-0547	Nucleotide-binding
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0675	Receptor
KW-1185	Reference proteome
KW-0677	Repeat
KW-0732	Signal
KW-0808	Transferase
KW-0812	Transmembrane
KW-1133	Transmembrane helix
KW-0829	Tyrosine-protein kinase

Interpro

InterPro ID	InterPro Term
IPR027936	Eph_TM
IPR034245	EphB3_rcpt_lig-bd
IPR001090	Ephrin_rcpt_lig-bd_dom
IPR003961	FN3_dom
IPR036116	FN3_sf
IPR008979	Galactose-bd-like_sf
IPR013783	Ig-like_fold
IPR011009	Kinase-like_dom_sf
IPR000719	Prot_kinase_dom
IPR017441	Protein_kinase_ATP_BS
IPR001660	SAM
IPR013761	SAM/pointed_sf
IPR001245	Ser-Thr/Tyr_kinase_cat_dom
IPR011641	Tyr-kin_ephrin_A/B_rcpt-like
IPR008266	Tyr_kinase_AS
IPR020635	Tyr_kinase_cat_dom
IPR016257	Tyr_kinase_ephrin_rcpt
IPR001426	Tyr_kinase_rcpt_V_CS

PROSITE

PROSITE ID	PROSITE Term
PS51550	EPH_LBD
PS50853	FN3
PS00107	PROTEIN_KINASE_ATP
PS50011	PROTEIN_KINASE_DOM
PS00109	PROTEIN_KINASE_TYR
PS00790	RECEPTOR_TYR_KIN_V_1
PS00791	RECEPTOR_TYR_KIN_V_2
PS50105	SAM_DOMAIN

Pfam

Pfam ID	Pfam Term
PF14575	EphA2_TM
PF01404	Ephrin_lbd
PF07699	Ephrin_rec_like
PF00041	fn3
PF07714	Pkinase_Tyr
PF00536	SAM_1

Gene: EPHB3

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction