AiPD: Autoinhibited Protein Database

P54760

Gene name	EPHB4 (HTK, MYK1, TYRO11)
Protein name	Ephrin type-B receptor 4
Names	EC 2.7.10.1 , Hepatoma transmembrane kinase , Tyrosine-protein kinase TYRO11
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2050
EC number	2.7.10.1: Protein-tyrosine kinases
Protein Class

Descriptions

Ephrin type-B receptor 2 is a membrane-associated protein that mediates axon guidance, cell migration and morphogenesis. The Eph receptor tyrosine kinase family is regulated by autophosphorylation within the juxtamembrane region and the kinase activation segment. The structure, supported by mutagenesis data, reveals that the juxtamembrane segment adopts a helical conformation that distorts the small lobe of the kinase domain, and blocks the activation segment from attaining an activated conformation. Phosphorylation of the conserved juxtamembrane tyrosines would relieve this autoinhibition by disturbing the association of the juxtamembrane segment with the kinase domain, while liberating phosphotyrosine sites for binding SH2 domains of target proteins.

Autoinhibitory domains (AIDs)

658-670 (αC helix) SS

Target domain	615-874 (Protein kinase domain)
Relief mechanism	Others
Assay

AID

658-670 (αC helix)

Target domain

615-874 (Protein kinase domain)

Relief mechanism

Others (Dissociation of DLG motif within the activation loop from αC helix)

Assay

Accessory elements

757-785 (Activation loop from InterPro)

Target domain	615-899 (Protein kinase domain)
Relief mechanism
Assay

757-785 (Activation loop from InterPro)

Target domain	615-899 (Protein kinase domain)
Relief mechanism
Assay

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100

Hubbard SR (2004) "Juxtamembrane autoinhibition in receptor tyrosine kinases", Nature reviews. Molecular cell biology, 5, 464-71

Wybenga-Groot LE et al. (2001) "Structural basis for autoinhibition of the Ephb2 receptor tyrosine kinase by the unphosphorylated juxtamembrane region", Cell, 106, 745-57

Artim SC et al. (2012) "Assessing the range of kinase autoinhibition mechanisms in the insulin receptor family", The Biochemical journal, 448, 213-20

Uchikawa E et al. (2019) "Activation mechanism of the insulin receptor revealed by cryo-EM structure of the fully liganded receptor-ligand complex", eLife, 8,

Nielsen J et al. (2022) "Structural Investigations of Full-Length Insulin Receptor Dynamics and Signalling", Journal of molecular biology, 434, 167458

Chen YS et al. (2021) "Insertion of a synthetic switch into insulin provides metabolite-dependent regulation of hormone-receptor activation", Proceedings of the National Academy of Sciences of the United States of America, 118,

Craddock BP et al. (2007) "Autoinhibition of the insulin-like growth factor I receptor by the juxtamembrane region", FEBS letters, 581, 3235-40

Autoinhibited structure

Activated structure

24 structures for P54760

Entry ID	Method	Resolution	Chain	Position	Source
2BBA	X-ray	165 A	A	17-196	PDB
2E7H	NMR	-	A	434-529	PDB
2HLE	X-ray	205 A	A	17-196	PDB
2QKQ	X-ray	210 A	A/B	896-977	PDB
2VWU	X-ray	200 A	A	598-899	PDB
2VWV	X-ray	190 A	A	598-899	PDB
2VWW	X-ray	190 A	A	598-899	PDB
2VWX	X-ray	165 A	A	598-899	PDB
2VWY	X-ray	165 A	A	598-899	PDB
2VWZ	X-ray	165 A	A	598-899	PDB
2VX0	X-ray	210 A	A	598-899	PDB
2VX1	X-ray	165 A	A	598-899	PDB
2X9F	X-ray	175 A	A	598-899	PDB
2XVD	X-ray	170 A	A	598-899	PDB
2YN8	X-ray	211 A	A/B	598-892	PDB
3ZEW	X-ray	250 A	A/B	598-892	PDB
4AW5	X-ray	233 A	A	605-890	PDB
4BB4	X-ray	165 A	A	598-899	PDB
6FNI	X-ray	147 A	A	598-892	PDB
6FNJ	X-ray	124 A	A/B	598-892	PDB
6FNK	X-ray	105 A	A	598-892	PDB
6FNL	X-ray	127 A	A	598-892	PDB
6FNM	X-ray	116 A	A	598-892	PDB
AF-P54760-F1	Predicted				AlphaFoldDB

892 variants for P54760

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1562976493 RCV000722058	12	L>missing	Capillary malformation-arteriovenous malformation 2 [ClinVar]	Yes	ClinVar dbSNP
VAR_081689 RCV001562165 RCV000852310 rs1584667224 CA368584586	59	E>K	Capillary malformation-arteriovenous malformation 2 CMAVM2; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA368584405 VAR_081690 rs61735971 RCV000852323	74	R>P	Capillary malformation-arteriovenous malformation 2 CMAVM2; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA368582835 RCV000722066 rs1562974383 VAR_081691	107	C>R	Capillary malformation-arteriovenous malformation 2 CMAVM2; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_081692	115	Y>del	CMAVM2; unknown pathological significance [UniProt]	Yes	UniProt
CA368582368 RCV000852306 rs1584666961	130	W>*	Capillary malformation-arteriovenous malformation 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_081693	130	W>del	CMAVM2 [UniProt]	Yes	UniProt
VAR_081694	161	V>L	CMAVM2; unknown pathological significance [UniProt]	Yes	UniProt
VAR_081695 RCV000852316 rs1584666053 CA368581365	187	L>P	Capillary malformation-arteriovenous malformation 2 CMAVM2; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1562973614 RCV000722065	191	H>missing	Capillary malformation-arteriovenous malformation 2 [ClinVar]	Yes	ClinVar dbSNP
rs1562973541 RCV000722060	211	V>missing	Capillary malformation-arteriovenous malformation 2 [ClinVar]	Yes	ClinVar dbSNP
VAR_081696	244	Q>del	CMAVM2 [UniProt]	Yes	UniProt
CA368579538 rs201816920 VAR_081697 RCV000722059	268	C>R	Capillary malformation-arteriovenous malformation 2 CMAVM2; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes dbSNP gnomAD
rs1479899915 RCV001254877	324	P>H	Malignant neoplastic disease [ClinVar]	Yes	ClinVar dbSNP
RCV000408650 CA10602395 rs1057515420	327	P>L	Tetralogy of Fallot Tetralogy of fallot (tof) [ClinVar, Ensembl]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_081698	352	R>del	CMAVM2 [UniProt]	Yes	UniProt
RCV000879589 VAR_042184 CA4393099 rs55720981 RCV002495335	371	A>V	Lymphatic malformation 7 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1484547615 CA368576399 RCV000852312	375	G>*	Capillary malformation-arteriovenous malformation 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
VAR_081699	375	G>del	CMAVM2 [UniProt]	Yes	UniProt
rs538766032 CA4393076 RCV002261471	397	R>H	Capillary malformation-arteriovenous malformation 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_081700	431	R>del	CMAVM2 [UniProt]	Yes	UniProt
CA368573388 VAR_081701 rs1584662591 RCV000852327	469	V>G	Capillary malformation-arteriovenous malformation 2 CMAVM2; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA4392943 RCV000852313 rs776305185 VAR_081703	516	G>R	Variant assessed as Somatic; 0.0 impact. Capillary malformation-arteriovenous malformation 2 CMAVM2; unknown pathological significance [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD
VAR_081704	520	Q>del	CMAVM2 [UniProt]	Yes	UniProt
VAR_081705	596	Y>del	CMAVM2 [UniProt]	Yes	UniProt
rs1584658113 VAR_081706 CA368570317 RCV000852315	650	K>N	Capillary malformation-arteriovenous malformation 2 CMAVM2; highly decreased tyrosine phosphorylation; highly decreased interaction with RASA1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_081707 RCV000852324 CA163279667 rs745584371	656	R>W	Capillary malformation-arteriovenous malformation 2 CMAVM2; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
VAR_081708 rs1562969219 RCV000722061 CA368570236	664	E>K	Variant assessed as Somatic; impact. Capillary malformation-arteriovenous malformation 2 CMAVM2; the mutant protein is not detected by Western blot; loss of localization to cell membrane [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs1812966939 RCV001261444	701	L>R	Capillary malformation-arteriovenous malformation 2 [ClinVar]	Yes	ClinVar dbSNP
rs1159930961 VAR_081709 RCV000852307 CA368569125 RCV002254320	725	A>T	Variant assessed as Somatic; 0.0 impact. Capillary malformation-arteriovenous malformation 2 CMAVM2; unknown pathological significance [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD
rs1057519263 RCV003128798 RCV000415595 VAR_078063 CA16043927	739	R>Q	Lymphatic malformation 7 LMPHM7; loss of kinase activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_081710	739	R>del	CMAVM2 [UniProt]	Yes	UniProt
RCV002254321 VAR_081711 rs1584654433 CA368568898 RCV000852318	745	N>D	Capillary malformation-arteriovenous malformation 2 CMAVM2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000415536 CA16043928 VAR_078064 rs1057519264	782	I>S	Lymphatic malformation 7 LMPHM7; loss of kinase activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs753075600 CA368567858 VAR_081712 RCV000852319	789	P>R	Capillary malformation-arteriovenous malformation 2 CMAVM2; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
VAR_081713 RCV000852320 rs1417508111 CA368567861	789	P>S	Capillary malformation-arteriovenous malformation 2 CMAVM2; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
CA4392653 VAR_081714 RCV000722057 rs776410552	802	D>G	Capillary malformation-arteriovenous malformation 2 CMAVM2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
RCV000852305 CA368567641 rs377702127 RCV000760551	806	Y>*	Variant assessed as Somatic; impact. Capillary malformation-arteriovenous malformation 2 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD
VAR_081715	806	Y>del	CMAVM2 [UniProt]	Yes	UniProt
RCV000852314 VAR_081716 rs1330628156 CA368567637	807	G>R	Capillary malformation-arteriovenous malformation 2 CMAVM2; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
rs1584653650 VAR_081717 CA368567458 RCV000852321	820	P>L	Capillary malformation-arteriovenous malformation 2 CMAVM2; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_081718 CA368567468 RCV000852322 rs1584653653	820	P>T	Capillary malformation-arteriovenous malformation 2 CMAVM2; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA4392620 RCV001092660 rs764827256 VAR_081719 RCV000852325	838	R>W	Capillary malformation-arteriovenous malformation 2 CMAVM2; the mutant protein is not detected by Western blot; loss of localization to cell membrane [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
VAR_081720 rs1584653054 RCV000852308 RCV001002591 CA368567095	845	C>R	Capillary malformation-arteriovenous malformation 2 CMAVM2; the mutant protein is not detected by Western blot; loss of localization to cell membrane [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA368566995 rs1584653005 VAR_081721 RCV000852309 RCV002062235 RCV003224479	856	C>Y	Lymphatic malformation 7 Capillary malformation-arteriovenous malformation 2 CMAVM2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA4392607 rs769965440 VAR_081722 RCV000852326 COSM1446693 RCV001869297 RCV001002544	864	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine Capillary malformation-arteriovenous malformation 2 CMAVM2; the mutant protein is not detected by Western blot; loss of localization to cell membrane [NCI-TCGA, Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD
rs1584652949 VAR_081723 RCV000852311 CA368566928	867	F>L	Capillary malformation-arteriovenous malformation 2 CMAVM2; loss of tyrosine phosphorylation; loss of interaction with RASA1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_081724 RCV000852328 CA368566905 rs1584652920	870	V>E	Capillary malformation-arteriovenous malformation 2 CMAVM2; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA368566882 VAR_081725 rs1584652900 RCV000852317	874	L>P	Capillary malformation-arteriovenous malformation 2 CMAVM2; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1584651110 RCV000853289	954	L>missing	Lymphatic malformation 7 [ClinVar]	Yes	ClinVar dbSNP
CA368585874 rs1307263265	2	E>D		No	ClinGen TOPMed
CA368585878 rs1226681210	2	E>G		No	ClinGen gnomAD
CA368585872 rs1365641222	3	L>I		No	ClinGen TOPMed gnomAD
CA368585869 rs1299609173	3	L>P		No	ClinGen gnomAD
rs531830000 CA163292678	4	R>Q		No	ClinGen 1000Genomes TOPMed gnomAD
rs781356999 CA4393493	4	R>W		No	ClinGen ExAC TOPMed gnomAD
CA368585860 rs1584670775	5	V>G		No	ClinGen Ensembl
CA4393492 rs376314076	5	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4393491 rs747556916	6	L>V		No	ClinGen ExAC TOPMed
rs373130748 CA4393488	10	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA368585828 rs1429727921	10	A>V		No	ClinGen gnomAD
CA368585827 rs1391140257	11	S>T		No	ClinGen gnomAD
CA368585815 rs1237075596	12	L>F		No	ClinGen TOPMed
CA4393486 rs139513482	14	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA368585798 rs1188518695	15	A>V		No	ClinGen gnomAD
rs755785202 CA4393485	16	L>F		No	ClinGen ExAC gnomAD
rs1444192814 CA368585794	16	L>S		No	ClinGen gnomAD
CA368585786 rs1245070341	17	E>A		No	ClinGen TOPMed gnomAD
CA368585784 rs1195131190	17	E>D		No	ClinGen TOPMed gnomAD
rs920385010 CA163288319	18	E>D		No	ClinGen Ensembl
rs1342831355 CA368585783	18	E>K		No	ClinGen TOPMed gnomAD
rs763900179 CA4393415	24	K>T		No	ClinGen ExAC gnomAD
rs1184391732 CA368585139	27	T>A		No	ClinGen TOPMed
rs1445076828 CA368585132	27	T>I		No	ClinGen gnomAD
RCV001812981 rs1813316337	32	W>C		No	ClinVar dbSNP
rs1283032189 CA368585058	33	V>M		No	ClinGen gnomAD
CA368585030 rs1456858784	35	F>L		No	ClinGen TOPMed
CA368584994 rs1330592259	38	V>M		No	ClinGen gnomAD
CA4393411 COSM597934 rs759596805	40	G>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1212819979 CA368584785	42	W>C		No	ClinGen gnomAD
rs773705502 COSM1673381 CA4393390	43	E>V	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4393389 rs149287966	45	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4393387 rs775332052	47	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1395721938 CA368584708	48	L>P		No	ClinGen gnomAD
CA4393386 rs771820421	54	S>G		No	ClinGen ExAC gnomAD
rs778299552 CA4393384	55	V>M		No	ClinGen ExAC gnomAD
CA368584613 rs1169159321	56	R>C		No	ClinGen gnomAD
rs951495096 CA163288089	56	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1163619443 CA368584606	57	T>A		No	ClinGen gnomAD
CA368584538 rs777749349	62	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1206580927 CA368584529	63	V>E		No	ClinGen gnomAD
CA4393379 rs752453773	63	V>L		No	ClinGen ExAC TOPMed gnomAD
CA4393380 rs752453773	63	V>M		No	ClinGen ExAC TOPMed gnomAD
rs375154133 CA4393377	65	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs751727413 CA4393376	65	R>H		No	ClinGen ExAC gnomAD
CA163288047 rs34653459 VAR_042181	67	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen UniProt Ensembl NCI-TCGA dbSNP
CA4393374 rs763086694	68	G>S		No	ClinGen ExAC TOPMed gnomAD
rs750951336 CA4393373	69	Q>R		No	ClinGen ExAC gnomAD
rs765754497 CA4393372	70	A>T		No	ClinGen ExAC gnomAD
rs1364215320 CA368584452	70	A>V		No	ClinGen gnomAD
rs1207070660 CA368584407	74	R>C		No	ClinGen TOPMed
rs61735971 CA4393371	74	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	75	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4393370 rs777167392	76	G>V		No	ClinGen ExAC TOPMed gnomAD
CA4393369 rs563791926	78	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1292691541 CA368584357	79	P>A		No	ClinGen gnomAD
CA4393368 rs542089930	79	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4393366 rs770404999	80	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs774048106 CA4393367	80	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4393365 rs746477743	81	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1471974453 CA368584341	81	R>W		No	ClinGen gnomAD
TCGA novel	82	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1584667132 CA368584336	82	G>S		No	ClinGen Ensembl
rs371690893 CA4393363	83	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4393361 rs201465765	84	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA4393359 rs751799980	85	H>R		No	ClinGen ExAC gnomAD
rs754703615 CA4393360	85	H>Y		No	ClinGen ExAC
rs1291593153 CA368584286	86	V>A		No	ClinGen TOPMed
rs1026318685 CA163288006	86	V>M		No	ClinGen TOPMed gnomAD
rs750486999 CA4393356	88	A>P		No	ClinGen ExAC TOPMed gnomAD
rs750486999 CA4393357	88	A>T		No	ClinGen ExAC TOPMed gnomAD
CA163287993 rs765193301	89	T>M		No	ClinGen ExAC TOPMed gnomAD
rs765193301 CA4393355	89	T>R		No	ClinGen ExAC TOPMed gnomAD
rs367658028 CA4393353	91	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs764620067 CA4393352	91	R>H		No	ClinGen ExAC TOPMed gnomAD
CA368583223 rs764620067	91	R>L		No	ClinGen ExAC TOPMed gnomAD
rs761107018 CA4393351	92	F>L		No	ClinGen ExAC gnomAD
rs1584667090 CA368583112	94	M>I		No	ClinGen Ensembl
CA4393349 rs34745261	94	M>V		No	ClinGen ExAC gnomAD
CA368583107 rs1335789540	95	L>V		No	ClinGen TOPMed
TCGA novel	96	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4393347 rs772798505	96	E>K		No	ClinGen ExAC gnomAD
rs1488403892 CA368583041	97	C>Y		No	ClinGen TOPMed
rs1376373159 CA368582984	99	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4393344 rs776550311	102	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4393345 rs141985925	102	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	104	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768500840 CA4393343	105	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4393342 rs199871056	106	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780180360 CA4393341	108	K>R		No	ClinGen ExAC TOPMed gnomAD
CA368582739 rs758680146	110	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1367690469 CA368582744	110	T>S		No	ClinGen TOPMed
CA4393340 rs758680146	110	T>S		No	ClinGen ExAC TOPMed gnomAD
CA4393338 rs779136651	111	F>C		No	ClinGen ExAC gnomAD
rs1255335672 CA368582725	111	F>L		No	ClinGen gnomAD
rs55866373 CA4393335 VAR_042182	113	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1393727417 CA368582645	114	F>L		No	ClinGen TOPMed gnomAD
CA368582659 rs1322156612	114	F>V		No	ClinGen gnomAD
CA368582593 rs1172492790	116	Y>C		No	ClinGen gnomAD
CA4393334 rs758020119	116	Y>H		No	ClinGen ExAC gnomAD
CA368582569 rs767722877	117	E>D		No	ClinGen ExAC TOPMed gnomAD
rs762677252 CA4393331	118	S>N		No	ClinGen ExAC gnomAD
CA4393329 rs201416777	119	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1083150 CA4393328 rs761303678	120	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA368582470 rs1346983262	121	D>E		No	ClinGen gnomAD
rs1200928285 CA368582486	121	D>N		No	ClinGen gnomAD
CA4393326 rs768550178	122	T>M		No	ClinGen ExAC TOPMed gnomAD
CA368582457 rs768550178	122	T>R		No	ClinGen ExAC TOPMed gnomAD
CA4393324 rs775378353	124	T>M		No	ClinGen ExAC gnomAD
rs1339346735 CA368582418	126	L>F		No	ClinGen gnomAD
CA368582416 rs1334289232	126	L>H		No	ClinGen gnomAD
CA4393321 rs142856240	127	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA4393317 rs756664305	131	M>L		No	ClinGen ExAC gnomAD
rs890373616 CA163287950	133	N>K		No	ClinGen Ensembl
rs1051629299 CA163287943	136	I>M		No	ClinGen Ensembl
CA368582132 rs200549250	140	T>K		No	ClinGen ExAC TOPMed gnomAD
rs200549250 CA4393285	140	T>M		No	ClinGen ExAC TOPMed gnomAD
rs200549250 CA4393286	140	T>R		No	ClinGen ExAC TOPMed gnomAD
CA368582107 rs891838296	143	A>S		No	ClinGen TOPMed gnomAD
rs891838296 CA163287333	143	A>T		No	ClinGen TOPMed gnomAD
rs767324545 CA4393282	143	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA368582088 rs1584666180	144	E>D		No	ClinGen Ensembl
CA368582099 rs1158470244	144	E>K		No	ClinGen gnomAD
CA4393279 rs770790162	148	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4393280 rs774305640	148	R>W		No	ClinGen ExAC TOPMed gnomAD
CA368582021 rs1189470291	150	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs763269858 CA4393278	150	R>H		No	ClinGen ExAC gnomAD
rs1195078965 CA368581992	152	G>V		No	ClinGen gnomAD
rs773567490 CA368581988	153	A>S		No	ClinGen ExAC gnomAD
CA4393277 rs773567490	153	A>T		No	ClinGen ExAC gnomAD
rs567446020 CA163287298	154	E>D		No	ClinGen 1000Genomes
rs1208741771 CA368581980	154	E>K		No	ClinGen TOPMed gnomAD
rs1330613479 CA368581956	155	A>D		No	ClinGen gnomAD
CA368581951 rs1330613479	155	A>V		No	ClinGen gnomAD
rs1344731618 CA368581926	157	G>R		No	ClinGen gnomAD
CA368581863 rs1443610193	160	N>S		No	ClinGen gnomAD
rs17854760 CA163287278 VAR_071163	162	K>R		No	ClinGen UniProt dbSNP gnomAD
CA4393272 rs747465488	163	T>M		No	ClinGen ExAC TOPMed gnomAD
CA163287266 rs920403132 COSM1205521	165	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
COSM3430994 CA4393270 rs758697441	165	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA368581770 rs758697441	165	R>L		No	ClinGen ExAC TOPMed gnomAD
rs777267049 CA4393268	168	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1246958474 CA368581686	170	S>G		No	ClinGen gnomAD
rs766999001 CA4393265	170	S>I		No	ClinGen ExAC gnomAD
CA4393264 rs754975511	172	A>T		No	ClinGen ExAC
TCGA novel	174	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1486555240 CA368581617	174	F>L		No	ClinGen gnomAD
TCGA novel	176	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1208605727 CA368581559	177	A>T		No	ClinGen TOPMed gnomAD
CA368581548 rs1442310071	177	A>V		No	ClinGen gnomAD
CA368581482 rs1236880352	181	Q>K		No	ClinGen gnomAD
rs766340347 CA4393262	182	G>S		No	ClinGen ExAC gnomAD
rs1297123317 CA368581448	182	G>V		No	ClinGen gnomAD
rs773535818 CA4393260	183	A>V		No	ClinGen ExAC gnomAD
CA368581355 rs1447417535	188	L>P		No	ClinGen gnomAD
rs1437466686 CA368581348	189	S>P		No	ClinGen TOPMed
CA4393258 rs371330707	190	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1443214878 CA368581305	191	H>Q		No	ClinGen TOPMed
CA163287201 rs998369671	191	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA368581292 rs1183479782	192	L>V		No	ClinGen TOPMed
CA368581279 rs1389391681	193	F>L		No	ClinGen gnomAD
CA4393256 rs768724343	195	K>E		No	ClinGen ExAC TOPMed gnomAD
CA368581227 rs768724343	195	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1562973583 CA368581223	195	K>R		No	ClinGen Ensembl
rs1429975697 CA368581199	196	K>M		No	ClinGen gnomAD
CA368581191 rs1476077876	197	C>G		No	ClinGen TOPMed
CA4393255 rs112443300	198	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA368581111 rs1562973568	201	T>I		No	ClinGen Ensembl
rs1813260006 RCV001812942	202	V>missing		No	ClinVar dbSNP
CA368581101 rs1204973100	202	V>L		No	ClinGen gnomAD
CA368581075 rs1335836028	203	N>Y		No	ClinGen TOPMed
CA4393252 rs746199977	206	R>*		No	ClinGen ExAC TOPMed gnomAD
CA368581002 rs746199977	206	R>G		No	ClinGen ExAC TOPMed gnomAD
CA4393251 rs557044427	206	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4393250 rs557044427	206	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs111749768 CA4393249	208	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs111749768 CA4393248	208	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA368580953 rs1309430501	208	P>S		No	ClinGen gnomAD
rs1380060886 CA368580910	210	T>A		No	ClinGen gnomAD
rs1295041959 CA368580898	210	T>S		No	ClinGen gnomAD
rs1407976994 CA368580854	212	P>S		No	ClinGen gnomAD
rs377700390 CA4393245	213	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1369688075 CA368580837	213	R>W		No	ClinGen TOPMed gnomAD
rs959789503 CA163287161	216	V>I		No	ClinGen TOPMed
CA4393244 rs758312302	217	V>E		No	ClinGen ExAC TOPMed gnomAD
CA368580702 rs1163644366	218	P>L		No	ClinGen gnomAD
rs761954921 CA4393241	219	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs776846992 CA4393240	220	A>D		No	ClinGen ExAC gnomAD
TCGA novel	220	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4393239 rs764227166	221	G>S		No	ClinGen ExAC TOPMed gnomAD
CA4393238 rs534237588	222	S>R		No	ClinGen ExAC TOPMed gnomAD
rs542686005 CA4393236	224	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs542686005 CA4393237	224	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4393232 rs747818929	228	V>A		No	ClinGen ExAC gnomAD
rs146902369 CA4393234	228	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146902369 CA4393233	228	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA368580452 rs1226689308	229	P>S		No	ClinGen gnomAD
CA4393230 rs142009811	230	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA163287116 rs147563837	231	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000880793 CA4393229 rs147563837	231	P>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	232	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758437282 CA4393226	235	P>L		No	ClinGen ExAC gnomAD
rs200701924 CA4393227	235	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1321680538 CA368580248	236	S>I		No	ClinGen TOPMed
CA368580265 rs1285371517	236	S>R		No	ClinGen TOPMed
CA4393225 rs750317976	240	R>C		No	ClinGen ExAC gnomAD
rs778577631 CA4393224	241	E>K		No	ClinGen ExAC gnomAD
rs1183248592 CA368580113	241	E>V		No	ClinGen gnomAD
TCGA novel	242	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368580055 rs1421234988	244	Q>*		No	ClinGen gnomAD
rs1469047205 CA368579980	247	E>K		No	ClinGen TOPMed gnomAD
rs1255155557 CA368579959	248	Q>K		No	ClinGen gnomAD
CA4393222 rs754054238	249	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA163287090 rs866357470	249	P>S		No	ClinGen Ensembl
rs1241171625 CA368579895	251	T>A		No	ClinGen gnomAD
CA4393219 rs536270994	251	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1241171625 CA368579892	251	T>S		No	ClinGen gnomAD
CA4393217 rs759962143	252	G>D		No	ClinGen ExAC TOPMed gnomAD
CA368579866 rs759962143	252	G>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	255	C>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4393216 rs774913837	257	P>L		No	ClinGen ExAC TOPMed gnomAD
CA368579774 rs1318125430	257	P>T		No	ClinGen gnomAD
CA4393213 rs776466072	260	E>K		No	ClinGen ExAC TOPMed gnomAD
CA368579672 rs1376469550	261	A>S		No	ClinGen gnomAD
CA163287044 rs867015273	262	A>S		No	ClinGen Ensembl
CA4393212 rs768458157	262	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1454993062 CA368579610	264	G>V		No	ClinGen gnomAD
rs889890364 CA163287041	265	N>S		No	ClinGen TOPMed gnomAD
TCGA novel	267	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA163287038 rs201816920	268	C>G		No	ClinGen 1000Genomes gnomAD
CA368579521 RCV001812472 rs1049858988	269	R>*		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1049858988 CA163287034	269	R>G		No	ClinGen TOPMed gnomAD
CA4393210 rs779724630	269	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs748423953 COSM1727369 CA368578370	272	A>S	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA4393185 rs748423953	272	A>T		No	ClinGen ExAC gnomAD
CA368578362 rs1363943271	272	A>V		No	ClinGen gnomAD
rs781367546 CA4393184	274	G>D		No	ClinGen ExAC gnomAD
CA368578311 rs1476125034	275	T>A		No	ClinGen gnomAD
CA4393182 rs751695209	278	P>L		No	ClinGen ExAC gnomAD
CA368578244 rs1181122990	278	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs758961867 CA4393180	280	S>L		No	ClinGen ExAC gnomAD
rs144988774 CA4393181	280	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	281	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA163285584 rs920850385	281	G>E		No	ClinGen gnomAD
rs750894031 CA4393179	281	G>R		No	ClinGen ExAC TOPMed gnomAD
rs201531252 CA4393178	283	G>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	283	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1287007977 CA368578115	284	S>Y		No	ClinGen gnomAD
CA4393177 rs762255907	288	C>S		No	ClinGen ExAC gnomAD
CA4393176 rs775334251	290	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1165688220 CA368577924	292	S>G		No	ClinGen gnomAD
rs1365949105 CA368577914	292	S>N		No	ClinGen gnomAD
CA368577876 rs1463096024	293	H>Q		No	ClinGen gnomAD
CA368577882 rs1201062675	293	H>R		No	ClinGen TOPMed
rs759058404 CA4393174	294	S>C		No	ClinGen ExAC gnomAD
TCGA novel	296	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA163285561 rs964985310	299	S>L		No	ClinGen gnomAD
CA4393170 rs773119102	301	V>A		No	ClinGen ExAC gnomAD
rs749289689 CA4393172	301	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4393171 rs749289689	301	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1813187893 RCV001310583	302	C>S		No	ClinVar dbSNP
TCGA novel	303	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs61735974 CA163285516	303	Q>R		No	ClinGen gnomAD
rs1562972261 CA368577546	305	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs780811289 CA4393167	306	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4393165 rs747142864	307	G>R		No	ClinGen ExAC gnomAD
CA368577512 rs1223760279	307	G>V		No	ClinGen gnomAD
rs1584664000 CA368577507	308	Y>D		No	ClinGen Ensembl
CA368577504 rs1186828104	308	Y>S		No	ClinGen TOPMed
rs1434791576 CA368577461	310	R>Q		No	ClinGen TOPMed gnomAD
CA4393163 rs758551897	310	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1584663977 CA368577406	311	A>G		No	ClinGen Ensembl
rs904491005 CA163285493	312	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs765819602 COSM374591 CA4393161	312	R>H	lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA163285492 rs765819602	312	R>P		No	ClinGen ExAC TOPMed gnomAD
rs573914937 CA163285487	313	T>R		No	ClinGen Ensembl
COSM3715653 CA368577327 rs1401261681	314	D>E	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
rs754275182 CA4393159	314	D>H		No	ClinGen ExAC gnomAD
rs764304295 CA4393158	315	P>T		No	ClinGen ExAC TOPMed gnomAD
CA368577310 rs1170531953	316	R>G		No	ClinGen gnomAD
CA368577301 rs1453576486	316	R>P		No	ClinGen gnomAD
CA368577304 COSM1446696 rs1453576486	316	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1361011975 CA368577289	317	G>S		No	ClinGen TOPMed
CA4393157 rs759227832	317	G>V		No	ClinGen ExAC gnomAD
rs1195168735 CA368577273	318	A>E		No	ClinGen gnomAD
CA368577252 rs1215924939	319	P>R		No	ClinGen TOPMed gnomAD
rs1241056038 CA368577258	319	P>T		No	ClinGen gnomAD
CA368577241 rs1265907347	320	C>R		No	ClinGen TOPMed gnomAD
rs765971608 CA4393155	321	T>S		No	ClinGen ExAC gnomAD
rs1389340287 CA368577109	322	T>I		No	ClinGen gnomAD
CA163285181 rs1000273764	323	P>R		No	ClinGen Ensembl
rs1479899915 CA368577082	324	P>L		No	ClinGen gnomAD
rs761744965 CA4393133	325	S>L		No	ClinGen ExAC gnomAD
CA368577062 rs1309300478	326	A>T		No	ClinGen gnomAD
CA368577034 rs1463123787	328	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA368577007 rs1295059691	330	V>L		No	ClinGen gnomAD
CA368577011 rs1295059691	330	V>M		No	ClinGen gnomAD
TCGA novel	331	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4393128 rs772457252	333	R>C		No	ClinGen ExAC TOPMed gnomAD
CA163285139 rs1056350781	333	R>H		No	ClinGen TOPMed gnomAD
CA163285125 rs536925945	336	G>S		No	ClinGen TOPMed gnomAD
CA368576899 rs1417678813	338	S>F		No	ClinGen gnomAD
rs1213073795 CA368576813	344	S>I		No	ClinGen gnomAD
rs1584663700 CA368576811	344	S>R		No	ClinGen Ensembl
rs756541015 CA4393122	345	A>G		No	ClinGen ExAC TOPMed gnomAD
CA4393123 rs778119643	345	A>T		No	ClinGen ExAC TOPMed gnomAD
rs756541015 CA368576799	345	A>V		No	ClinGen ExAC TOPMed gnomAD
CA163285111 COSM21032 VAR_042183 rs267601191	346	P>L	skin a metastatic melanoma sample; somatic mutation [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt Ensembl dbSNP
rs767827881	347	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	347	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368576756 rs1324878648	348	E>D		No	ClinGen gnomAD
rs1368264498 CA368576761	348	E>G		No	ClinGen gnomAD
CA4393117 rs750012047	349	S>C		No	ClinGen ExAC gnomAD
CA163285073 rs77303848	351	G>D		No	ClinGen TOPMed
rs898898802 CA163285071	352	R>*		No	ClinGen TOPMed gnomAD
rs1328472536 CA368576711	352	R>Q		No	ClinGen gnomAD
rs1452213135 CA368576694	353	E>G		No	ClinGen gnomAD
CA368576679 rs1584663647	354	D>A		No	ClinGen Ensembl
CA368576667 rs1562972035	355	L>V		No	ClinGen Ensembl
rs192640017 CA368576649	356	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1584663636 CA368576658	356	T>P		No	ClinGen Ensembl
rs192640017 CA4393116	356	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4393114 rs753866489	358	A>T		No	ClinGen ExAC TOPMed gnomAD
rs763909404 CA4393113	359	L>V		No	ClinGen ExAC gnomAD
CA163285049 rs201467689	360	R>C		No	ClinGen 1000Genomes TOPMed gnomAD
COSM1197013 CA4393112 rs202006098	360	R>H	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA4393109 rs759900530	362	R>Q		No	ClinGen ExAC gnomAD
rs767351699 CA4393110	362	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1302206828 CA368576567	363	E>K		No	ClinGen TOPMed gnomAD
CA368576530 rs1279971868	365	R>*		No	ClinGen TOPMed
rs1234615886 CA368576524	365	R>Q		No	ClinGen TOPMed gnomAD
CA4393106 rs369954495	366	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA368576511 rs1292758998	366	P>L		No	ClinGen gnomAD
rs369954495 CA163285025	366	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs369954495 CA4393107	366	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781543323 CA4393103 CA4393102	367	G>R		No	ClinGen ExAC TOPMed gnomAD
CA4393101 rs755332263	368	G>S		No	ClinGen ExAC gnomAD
rs1194882390 CA368576475	369	S>F		No	ClinGen TOPMed
CA368576461 rs1329211881	370	C>F		No	ClinGen TOPMed gnomAD
CA368576464 rs1329211881	370	C>S		No	ClinGen TOPMed gnomAD
CA368576452 rs1427224237	371	A>T		No	ClinGen TOPMed
rs753323358 CA4393097	372	P>S		No	ClinGen ExAC TOPMed gnomAD
CA4393095 rs756007675	373	C>S		No	ClinGen ExAC gnomAD
rs372148087 CA4393092	374	G>E		No	ClinGen ESP ExAC gnomAD
rs534368922 CA4393093	374	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368576405 COSM597936 rs534368922	374	G>W	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA368576397 rs1484547615	375	G>R		No	ClinGen gnomAD
rs774753223 CA4393091	376	D>G		No	ClinGen ExAC gnomAD
rs868564730 CA163284996	380	D>G		No	ClinGen Ensembl
CA368576325 rs1349527736	380	D>Y		No	ClinGen gnomAD
CA368576294 rs114926839	382	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4393088 rs114926839	382	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4393086 rs748671609	383	P>A		No	ClinGen ExAC gnomAD
CA4393084 rs569874323	384	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4393085 rs537229085	384	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368576261 rs1236634683	385	D>Y		No	ClinGen TOPMed
rs1166441822 CA368575114	387	V>L		No	ClinGen gnomAD
rs1166441822 COSM3949595 CA368575109	387	V>M	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA4393081 rs780358612	388	E>D		No	ClinGen ExAC gnomAD
CA4393080 rs756884746	389	P>S		No	ClinGen ExAC gnomAD
CA368575050 rs1195453384	390	W>R		No	ClinGen gnomAD
rs748901665 CA4393079	393	V>A		No	ClinGen ExAC gnomAD
RCV000757224 rs994651018 CA368574961	394	R>*		No	ClinGen ClinVar Ensembl dbSNP
CA4393078 rs373471680	394	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755632623 CA4393077	397	R>C		No	ClinGen ExAC TOPMed gnomAD
rs755632623 CA368574910	397	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1038769858 CA163284963	399	D>E		No	ClinGen Ensembl
CA368574872 rs1203067767	399	D>H		No	ClinGen gnomAD
CA4393075 rs767529835	399	D>V		No	ClinGen ExAC gnomAD
TCGA novel	402	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA163284926 rs943029837	409	L>S		No	ClinGen gnomAD
CA368574617 rs1293223501	411	G>A		No	ClinGen gnomAD
rs144185458 CA4393070	411	G>R		No	ClinGen ESP ExAC gnomAD
TCGA novel	411	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368574518 rs1397506333	416	A>G		No	ClinGen gnomAD
CA163284898 rs890165605	417	T>M		No	ClinGen TOPMed
CA4393066 rs371835903	418	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs772477558 CA4393063	419	P>S		No	ClinGen ExAC gnomAD
rs772477558 CA368574471	419	P>T		No	ClinGen ExAC gnomAD
COSM296477 rs61735975 CA4393061	420	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA4393058 rs780798389	423	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA368574359 rs1467694664	425	V>L		No	ClinGen gnomAD
rs376809512 CA4393057	426	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1359112706 CA368574290	429	T>A		No	ClinGen gnomAD
CA4393055 rs779782731	431	R>*		No	ClinGen ExAC gnomAD
CA4393056 rs779782731	431	R>G		No	ClinGen ExAC gnomAD
CA4393054 rs74779801	431	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4393053 COSM94219 rs74779801	431	R>Q	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
TCGA novel	432	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA163284856 rs947529034 COSM1193470	432	E>D	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1395318917 COSM346867 CA368573994	434	P>L	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs764213009 CA4393031	434	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1003569309 CA163284092	435	P>L		No	ClinGen Ensembl
rs1383546367 CA368573980	436	A>E		No	ClinGen TOPMed gnomAD
rs1211252046 CA368573984	436	A>T		No	ClinGen TOPMed
CA368573954 rs1474178715	439	D>N		No	ClinGen TOPMed gnomAD
CA368573949 rs1474178715	439	D>Y		No	ClinGen TOPMed gnomAD
CA4393027 rs532017702	441	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs541670683 CA4393028	441	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368573901 rs1288552548	442	V>M		No	ClinGen gnomAD
CA4393026 rs183759430	443	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA4393022 rs146064780	444	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4393023 rs146064780 COSM3831343	444	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA4393024 rs370505170 RCV003151826 RCV001002303	444	R>W		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA368573837 rs1431447319	446	S>*		No	ClinGen TOPMed gnomAD
CA368573830 rs1431447319	446	S>L		No	ClinGen TOPMed gnomAD
rs774826264 CA4393020	447	P>L		No	ClinGen ExAC gnomAD
CA4393018 rs778776343	448	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1375671574 CA368573760	450	L>F		No	ClinGen gnomAD
rs757030028 CA4393016	451	S>N		No	ClinGen ExAC gnomAD
rs1232069852 CA368573758	451	S>R		No	ClinGen TOPMed
rs138234752 COSM1496405 CA4393013	453	A>T	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs150425369 CA4393012	453	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs889822635 CA163284031	454	W>R		No	ClinGen Ensembl
TCGA novel	455	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs950104734 CA163284029	455	A>T		No	ClinGen TOPMed
rs1265993694 CA368573631	457	P>L		No	ClinGen gnomAD
rs576241409 CA4393011	457	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs542863867 CA4393009	458	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4393010 rs141544967	458	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA368573594 rs1259405750	460	P>A		No	ClinGen TOPMed
RCV002550753 rs146674844 RCV001001752 CA4393007 RCV002391070	462	G>R		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA163284003 rs7457245	463	A>D		No	ClinGen Ensembl
CA368573531 rs1380760361	463	A>T		No	ClinGen gnomAD
CA4393004 rs760199600	466	D>E		No	ClinGen ExAC gnomAD
rs1584662598 RCV002511011 RCV001001286 CA368573447	467	Y>C		No	ClinGen ClinVar Ensembl dbSNP
CA163283987 rs977239511	468	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA4393003 RCV001374593 rs775083333 RCV000998866	469	V>I		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1413925226 CA368573372	470	K>R		No	ClinGen gnomAD
COSM1661696 CA4393002 rs771419095	471	Y>C	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA163283985 rs3891495	471	Y>D		No	ClinGen Ensembl
rs149712104 CA368573335	472	H>N		No	ClinGen gnomAD
CA163283962 rs149712104 COSM109820	472	H>Y	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA4392980 rs370067368	475	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs914104459 CA163283061	476	A>T		No	ClinGen TOPMed gnomAD
CA368573086 rs1368906461	477	E>G		No	ClinGen gnomAD
rs534771025 CA4392979	477	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1295858477 CA368573081	478	G>R		No	ClinGen gnomAD
rs1295858477 CA368573080	478	G>S		No	ClinGen gnomAD
rs1345010887 CA368573067	479	P>L		No	ClinGen gnomAD
CA368573072 rs1452048089	479	P>S		No	ClinGen gnomAD
CA4392978 rs748460098	480	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1193016315 CA368573052	481	S>N		No	ClinGen gnomAD
CA4392976 rs768820666	482	V>L		No	ClinGen ExAC TOPMed gnomAD
rs768820666 CA368573046	482	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4392974 rs780234148	483	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs747118805 CA4392975	483	R>W		No	ClinGen ExAC TOPMed gnomAD
CA368573025 rs1218554166	484	F>L		No	ClinGen gnomAD
rs757631699 CA4392972	487	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1332366330 CA368572994	488	S>L		No	ClinGen gnomAD
CA368572987 rs1304009447	489	E>G		No	ClinGen gnomAD
rs752430673 CA4392969	490	N>K		No	ClinGen ExAC gnomAD
CA163282998 rs371751665	491	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs571706886 CA4392966	491	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs371751665 CA4392967	491	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs147737164 CA4392964	492	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs550496704 CA4392962	493	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA4392963 rs773119233	493	E>G		No	ClinGen ExAC gnomAD
CA368572957 rs1379490644	494	L>M		No	ClinGen gnomAD
rs200691435 CA4392960	495	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4392961 rs761482515	495	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA368572938 rs1195562961	496	G>E		No	ClinGen TOPMed gnomAD
COSM325264 CA368572939 rs1263837037	496	G>W	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA163282944 rs866287324	498	K>T		No	ClinGen Ensembl
CA163282939 rs775718656	499	R>L		No	ClinGen ExAC TOPMed gnomAD
CA4392957 rs775718656	499	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA368572916 rs1256335424	499	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1249061502 CA368572909	500	G>E		No	ClinGen gnomAD
rs746438401 CA368572902	501	A>S		No	ClinGen ExAC gnomAD
rs746438401 CA4392955	501	A>T		No	ClinGen ExAC gnomAD
rs757738890 CA4392953	502	S>G		No	ClinGen ExAC TOPMed gnomAD
CA368572842 rs1222689023	508	R>Q		No	ClinGen TOPMed
rs778138685 CA4392951	508	R>W		No	ClinGen ExAC gnomAD
VAR_081702 CA4392950 rs146937374	509	A>G	does not affect tyrosine phosphorylation; does not affect interaction with RASA1 [UniProt]	No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA4392949 rs146937374	509	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4392948 rs765931769	510	R>H		No	ClinGen ExAC TOPMed gnomAD
CA163282870 rs765931769	510	R>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	511	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757880700 CA4392947	512	E>G		No	ClinGen ExAC TOPMed gnomAD
CA368572805 rs750401010	513	A>D		No	ClinGen ExAC gnomAD
CA368572808 rs1290673829	513	A>T		No	ClinGen TOPMed
rs750401010 CA4392946	513	A>V		No	ClinGen ExAC gnomAD
TCGA novel	514	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368572796 rs1443727484	515	Y>H		No	ClinGen gnomAD
rs1457869824 CA368572784 RCV001810656	517	P>T		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA4392941 rs761047725	519	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4392938 rs745973556	520	Q>H		No	ClinGen ExAC gnomAD
CA368572748 COSM1732699 rs1342423801	522	H>R	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs774435973 CA4392937	522	H>Y		No	ClinGen ExAC gnomAD
CA368572721 rs917922151	525	Q>H		No	ClinGen TOPMed
rs771353399 CA4392936	526	T>A		No	ClinGen ExAC gnomAD
CA368572691 rs1333478913	528	L>Q		No	ClinGen gnomAD
rs749734111 CA4392935	528	L>V		No	ClinGen ExAC TOPMed gnomAD
rs55682161 CA4392915	531	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4392913 rs781488120	532	E>K		No	ClinGen ExAC TOPMed gnomAD
rs149690566 CA4392912	533	G>A		No	ClinGen ESP ExAC gnomAD
rs149690566 CA4392911	533	G>V		No	ClinGen ESP ExAC gnomAD
rs139594739 CA4392909	535	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4392910 rs778356891 COSM1205524	535	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA368571926 rs1584659041	536	E>G		No	ClinGen Ensembl
rs542077734 CA4392908	537	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752550183 CA4392905	539	A>P		No	ClinGen ExAC gnomAD
CA368571896 rs752550183	539	A>T		No	ClinGen ExAC gnomAD
rs767351919 CA4392904	540	L>V		No	ClinGen ExAC gnomAD
CA368571875 rs1333388190	541	I>T		No	ClinGen gnomAD
CA4392903 rs201096509	542	A>V		No	ClinGen ExAC TOPMed gnomAD
CA163280449 rs1001021630	543	G>S		No	ClinGen TOPMed gnomAD
rs1400394501 CA368571847	544	T>A		No	ClinGen gnomAD
rs766417205 CA4392901	544	T>M		No	ClinGen ExAC TOPMed gnomAD
CA368571816 rs1240439526	546	V>A		No	ClinGen TOPMed
rs770308667 CA4392899	547	V>L		No	ClinGen ExAC TOPMed gnomAD
CA4392898 rs770308667	547	V>M		No	ClinGen ExAC TOPMed gnomAD
CA163280414 rs370425633	548	G>V		No	ClinGen Ensembl
CA4392897 rs762252389	549	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1562969735 CA368571739	554	V>L		No	ClinGen Ensembl
CA368571716 rs1488860277	556	I>T		No	ClinGen gnomAD
CA368571707 rs1425030857	557	V>M		No	ClinGen TOPMed
CA4392894 rs769007792	558	V>A		No	ClinGen ExAC TOPMed gnomAD
rs778608954 CA4392892	559	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1172486020 CA368571673	560	V>D		No	ClinGen TOPMed
rs199707528 CA4392891	561	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs968174852 CA368571576	564	R>S		No	ClinGen TOPMed gnomAD
TCGA novel	565	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1414790699 CA368571499	570	R>K		No	ClinGen gnomAD
CA163280266 rs923010921	573	E>Q		No	ClinGen Ensembl
rs1237602878 CA368571449	574	Y>H		No	ClinGen gnomAD
COSM172506 rs60537976 CA4392863	575	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA368571435 rs1172913557	575	S>P		No	ClinGen TOPMed
CA4392861 rs36050247 VAR_042185	576	D>E		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs563114834 CA368571377	579	G>E		No	ClinGen TOPMed gnomAD
rs754386387 CA4392859	579	G>R		No	ClinGen ExAC TOPMed gnomAD
rs563114834 CA163280254	579	G>V		No	ClinGen TOPMed gnomAD
CA368571361 rs1370137843	581	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs761026476 CA4392857	581	Y>H		No	ClinGen ExAC gnomAD
rs761026476 CA4392858	581	Y>N		No	ClinGen ExAC gnomAD
rs762749894 CA4392854	584	G>R		No	ClinGen ExAC gnomAD
CA368571308 rs1390966811	585	H>R		No	ClinGen TOPMed
rs78081360 CA4392852	585	H>Y		No	ClinGen 1000Genomes ExAC
CA368570777 rs1484495683	588	K>E		No	ClinGen gnomAD
CA368570732 rs1356280603	591	I>V		No	ClinGen TOPMed
CA4392824 rs771142479	592	D>N		No	ClinGen ExAC gnomAD
CA368570694 rs1340351853	595	T>I		No	ClinGen gnomAD
rs1384095905 CA368570680	597	E>V		No	ClinGen gnomAD
rs1302277575 CA368570671	598	D>E		No	ClinGen TOPMed gnomAD
rs1400342551 CA368570677	598	D>N		No	ClinGen gnomAD
CA368570667 rs1562969373	599	P>S		No	ClinGen Ensembl
rs139432679 CA4392822	600	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs756122719 CA4392821	601	E>K		No	ClinGen ExAC gnomAD
CA368570649 rs1168492408	602	A>T		No	ClinGen gnomAD
CA368570635 rs1477357696	604	R>K		No	ClinGen gnomAD
CA368570607 rs1424007624	608	K>E		No	ClinGen gnomAD
CA163279844 rs926945575	611	D>G		No	ClinGen Ensembl
rs751986016 CA4392818	611	D>H		No	ClinGen ExAC gnomAD
CA4392817 rs751986016	611	D>N		No	ClinGen ExAC gnomAD
CA4392816 rs553752911	612	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4392814 rs753421383	614	Y>F		No	ClinGen ExAC TOPMed
CA4392815 rs761626053	614	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA4392812 rs773185233	615	V>I		No	ClinGen ExAC TOPMed gnomAD
rs576785475 CA4392811	616	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1046049493 CA163279832	616	K>N		No	ClinGen Ensembl
rs1279163966 CA368570531	619	E>D		No	ClinGen gnomAD
rs1244049178 CA368570536	619	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA368570505 rs1230088274	623	A>V		No	ClinGen gnomAD
rs1233930784 CA368570464	628	E>K		No	ClinGen gnomAD
CA4392782 rs768852064	630	C>F		No	ClinGen ExAC gnomAD
COSM1083138 CA4392779 rs758888214	631	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs780683641 CA4392780	631	R>W		No	ClinGen ExAC gnomAD
rs1361849824 CA368570440	632	G>R		No	ClinGen gnomAD
CA4392776 rs557834060	633	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs779267690 CA4392777	633	R>W		No	ClinGen ExAC TOPMed gnomAD
rs374676243 CA4392775	635	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	636	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1323901205 CA368570413	636	A>V		No	ClinGen TOPMed gnomAD
CA368570396 rs1406605659	639	K>R		No	ClinGen gnomAD
rs767057141 CA4392774	640	K>E		No	ClinGen ExAC
rs1297240377 CA368570366	643	C>Y		No	ClinGen TOPMed gnomAD
rs1170328808 CA368570329	648	T>I		No	ClinGen gnomAD
rs766336965 CA4392771	650	K>*		No	ClinGen ExAC
rs1200598391 CA368570311	651	G>D		No	ClinGen gnomAD
CA368570315 rs1377618117	651	G>R		No	ClinGen gnomAD
rs950348363 CA163279704	652	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs199997663 CA4392767	653	Y>F		No	ClinGen 1000Genomes ExAC
CA4392766 rs765067395	654	T>M		No	ClinGen ExAC TOPMed gnomAD
CA4392765 rs201283096	656	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	658	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs142798266 CA163279666	658	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA
CA4392764 rs776960865	659	R>H		No	ClinGen ExAC TOPMed gnomAD
CA368570255 rs1584658065	661	F>V		No	ClinGen Ensembl
rs768905156 CA4392763	667	I>V		No	ClinGen ExAC gnomAD
rs941563850 CA163279653	672	E>G		No	ClinGen Ensembl
rs1037211200 COSM94218 CA163279655	672	E>K	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1584658045 CA368570169	673	H>P		No	ClinGen Ensembl
CA163279647 rs892142409	674	P>S		No	ClinGen TOPMed
rs148505212 CA4392761	675	N>S		No	ClinGen ESP ExAC TOPMed
CA368570137 rs1485414415	678	R>C		No	ClinGen TOPMed
VAR_042186 CA4392760 rs55692440	678	R>H		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA368570127 rs1452526453	680	E>*		No	ClinGen TOPMed
rs757614258 CA4392757	684	T>S		No	ClinGen ExAC gnomAD
rs1177856021 CA368570074	687	M>I		No	ClinGen gnomAD
rs529340542 CA4392755 COSM77655	689	V>I	ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA368570046 rs1193403331	692	L>F		No	ClinGen gnomAD
CA163279618 rs58976385	694	E>K		No	ClinGen Ensembl
rs144756820 CA4392751	696	M>I		No	ClinGen ESP ExAC gnomAD
rs751075057 CA4392752	696	M>V		No	ClinGen ExAC gnomAD
TCGA novel	697	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369790197 CA4392750	698	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs369790197 CA368570000	698	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs977127119 CA368569996	699	G>C		No	ClinGen gnomAD
rs977127119 CA163279609	699	G>S		No	ClinGen gnomAD
rs1316018340 CA368569990	700	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1219022666 CA368569979	702	D>Y		No	ClinGen gnomAD
CA4392746 rs753635340	705	L>V		No	ClinGen ExAC TOPMed gnomAD
rs764440077 CA368569952	706	R>L		No	ClinGen ExAC TOPMed gnomAD
rs764440077 CA4392745	706	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs369745443 CA4392718	707	L>Q		No	ClinGen ESP ExAC gnomAD
rs771574231 CA4392715	709	D>E		No	ClinGen ExAC TOPMed gnomAD
rs202157491 CA4392716	709	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1293578781 CA368569306	709	D>V		No	ClinGen gnomAD
CA368569294 rs1307113070	710	G>E		No	ClinGen gnomAD
CA4392713 rs375150649	710	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA368569263 rs1242486572	713	T>P		No	ClinGen TOPMed
rs1376167248 CA368569252	714	V>I		No	ClinGen gnomAD
rs777774115 CA368569205	718	V>L		No	ClinGen ExAC TOPMed gnomAD
rs777774115 CA4392709	718	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs867673813 CA163276432	719	G>D		No	ClinGen Ensembl
rs1257483641 CA368569191	719	G>S		No	ClinGen gnomAD
rs1480741158 CA368569175	720	M>T		No	ClinGen TOPMed
CA368569163 rs1562967585	721	L>P		No	ClinGen Ensembl
rs372257470 CA163276428	721	L>V		No	ClinGen ESP
rs746179415 CA163276424	722	R>Q		No	ClinGen Ensembl
CA163276426 rs927472085	722	R>W		No	ClinGen Ensembl
rs1219200408 CA368569132	724	I>T		No	ClinGen TOPMed gnomAD
rs755091461 COSM1205523 CA4392705	726	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA4392701 rs773679415	729	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs763519830 CA4392702	729	R>W		No	ClinGen ExAC gnomAD
CA163276405 rs878897815	730	Y>D		No	ClinGen gnomAD
CA368569066 rs878897815	730	Y>H		No	ClinGen gnomAD
rs1584654471 CA368569064	730	Y>S		No	ClinGen Ensembl
CA4392700 rs765638770	732	A>S		No	ClinGen ExAC gnomAD
CA368569043 rs765638770	732	A>T		No	ClinGen ExAC gnomAD
CA4392698 rs776818724	733	E>K		No	ClinGen ExAC gnomAD
rs771758755 CA4392697	735	S>C		No	ClinGen ExAC gnomAD
rs1296852648 CA368568968	737	V>D		No	ClinGen TOPMed
CA4392695 COSM176196 rs773967187	739	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs749291888 CA4392693	743	A>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	744	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368568901 rs1285622741	744	R>L		No	ClinGen gnomAD
CA4392692 rs777880397	747	L>V		No	ClinGen ExAC TOPMed gnomAD
CA163276389 rs200376692	751	N>I		No	ClinGen 1000Genomes gnomAD
CA368568820 rs200376692	751	N>T		No	ClinGen 1000Genomes gnomAD
rs1562967513 CA368568795	753	V>A		No	ClinGen Ensembl
CA4392688 rs368484374	753	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	758	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1191243266 CA368568707	760	G>D		No	ClinGen gnomAD
rs750453997 CA4392684	764	F>C		No	ClinGen ExAC gnomAD
CA163276380 rs371509217	764	F>L		No	ClinGen ESP TOPMed gnomAD
CA4392683 rs765763445	765	L>V		No	ClinGen ExAC gnomAD
rs1482018942 CA368568209	766	E>A		No	ClinGen gnomAD
rs1254928124 CA368568193	767	E>G		No	ClinGen gnomAD
CA368568164 rs1203550262	769	S>F		No	ClinGen gnomAD
rs777063679 CA4392681	770	S>A		No	ClinGen ExAC gnomAD
rs764351124 CA4392680	770	S>C		No	ClinGen ExAC gnomAD
CA368568148 rs1584654342	771	D>N		No	ClinGen Ensembl
CA4392677 rs367628554 RCV000998865	775	T>M		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	783	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs957116019 CA163276080	784	I>V		No	ClinGen TOPMed gnomAD
rs1562967226 CA368567910	785	R>*		No	ClinGen Ensembl
rs906578426 CA163276079 RCV001812391	786	W>R		No	ClinVar dbSNP ClinGen Ensembl
COSM743651 CA4392659 rs753075600	789	P>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
RCV001351587 CA163276074 rs780716438	790	E>A		No	ClinGen ClinVar Ensembl dbSNP
rs1001170707 CA163276071	790	E>D		No	ClinGen Ensembl
rs1562967203 CA368567837	791	A>S		No	ClinGen Ensembl
CA4392656 rs772917108	795	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs375461456 COSM1238802 CA4392657	795	R>W	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1424294594 CA368567754	797	F>L		No	ClinGen TOPMed
rs1187109782 CA368567759	797	F>S		No	ClinGen TOPMed
TCGA novel	798	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368567739 rs1199276301	799	S>T		No	ClinGen gnomAD
CA4392654 rs761850149 COSM98983	800	A>T	Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	801	S>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368567711 rs1307218972	801	S>T		No	ClinGen gnomAD
CA368567661 rs1409605268	805	S>N		No	ClinGen TOPMed
TCGA novel	808	I>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368567603 rs1361242203	809	V>G		No	ClinGen TOPMed
rs199910843 CA163276064	810	M>I		No	ClinGen TOPMed
rs1413370127 CA368567579	811	W>L		No	ClinGen TOPMed
CA368567549 rs1584653671	813	V>G		No	ClinGen Ensembl
CA4392650 rs779755057	814	M>V		No	ClinGen ExAC gnomAD
rs1024547571 CA163276059	816	F>L		No	ClinGen gnomAD
CA4392649 rs772293299	816	F>S		No	ClinGen ExAC TOPMed gnomAD
CA368567501 RCV001002133 rs1584653660	817	G>E		No	ClinGen ClinVar Ensembl dbSNP
CA368567497 rs1157486794	818	E>K		No	ClinGen gnomAD
TCGA novel	818	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	822	W>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1275681407 CA368567421	823	D>N		No	ClinGen TOPMed
rs778178721 CA4392644	824	M>V		No	ClinGen ExAC gnomAD
rs147110749 CA4392643	825	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA368567269 rs1331661665	831	N>S		No	ClinGen gnomAD
TCGA novel	834	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1451025383 CA368567205	836	D>H		No	ClinGen gnomAD
CA4392621 rs751924698	837	Y>C		No	ClinGen ExAC gnomAD
CA368567185 rs751924698	837	Y>S		No	ClinGen ExAC gnomAD
rs764827256 CA163275926	838	R>G		No	ClinGen ExAC gnomAD
CA368567174 rs1471186320	838	R>Q		No	ClinGen gnomAD
rs753299011 CA4392617	840	P>A		No	ClinGen ExAC gnomAD
CA4392616 rs763645511	841	P>L		No	ClinGen ExAC TOPMed gnomAD
CA368567115 rs1460804400	843	P>L		No	ClinGen TOPMed gnomAD
CA368567118 rs1460804400	843	P>R		No	ClinGen TOPMed gnomAD
rs1181837179 CA368567121	843	P>S		No	ClinGen gnomAD
CA368567067 rs1584653050	847	T>P		No	ClinGen Ensembl
rs1562966869 CA368567051	848	S>C		No	ClinGen Ensembl
CA368567045 rs1272050395	849	L>F		No	ClinGen gnomAD
CA368567039 rs1584653028	850	H>P		No	ClinGen Ensembl
CA163275923 rs984407128	850	H>Y		No	ClinGen Ensembl
TCGA novel	852	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1230874925 CA368567026	852	L>V		No	ClinGen TOPMed
CA368567010 rs1341056929	854	L>V		No	ClinGen TOPMed gnomAD
rs774132008 CA4392612	855	D>H		No	ClinGen ExAC gnomAD
rs774132008 CA4392611	855	D>N		No	ClinGen ExAC gnomAD
COSM743653 rs953048390 CA163275921	857	W>*	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA4392610 rs771075650	858	Q>H		No	ClinGen ExAC gnomAD
rs1584652989 CA368566973	859	K>R		No	ClinGen Ensembl
CA368566959 rs1338018475	861	R>Q		No	ClinGen gnomAD
CA4392609 rs375175851	863	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1328611138 CA368566941	864	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA368566934 rs1410686440	865	P>L		No	ClinGen gnomAD
rs774491104 CA163275918	866	R>C		No	ClinGen Ensembl
COSM1205522 CA4392606 rs549742543	866	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC
rs1161737852 CA368566919	868	P>S		No	ClinGen TOPMed gnomAD
rs747337230 CA368566914	869	Q>*		No	ClinGen ExAC gnomAD
CA4392603 rs747337230	869	Q>K		No	ClinGen ExAC gnomAD
rs1480217747 CA368566912	869	Q>R		No	ClinGen TOPMed
rs1185292475 CA368566902	871	V>I		No	ClinGen gnomAD
CA4392602 rs756917361	872	S>R		No	ClinGen ExAC TOPMed gnomAD
CA4392600 rs201842419	873	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4392599 rs763548237	873	A>V		No	ClinGen ExAC gnomAD
CA163275911 rs975948410	877	M>V		No	ClinGen Ensembl
rs1474196596 CA4392596	878	I>L		No	ClinGen TOPMed
CA368566854 rs1584652881	878	I>T		No	ClinGen Ensembl
CA4392597 rs1474196596	878	I>V		No	ClinGen TOPMed
CA368566849 rs1244578543	879	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs755595176 CA4392595	880	N>D		No	ClinGen ExAC gnomAD
CA4392594 rs752151153	880	N>T		No	ClinGen ExAC gnomAD
CA368566833 rs1443462577	882	A>G		No	ClinGen TOPMed gnomAD
rs34918225 CA4392590	882	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA368566834 rs34918225	882	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs34918225 CA4392591 RCV002454178 RCV000947050 VAR_042187	882	A>T		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4392589 rs763126310	883	S>G		No	ClinGen ExAC gnomAD
rs1241833146 CA368566828	883	S>N		No	ClinGen gnomAD
CA4392587 rs770095206	887	V>M		No	ClinGen ExAC TOPMed gnomAD
CA368566797 rs1165549784	888	A>T		No	ClinGen gnomAD
rs762016655 CA368566791	889	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4392585 COSM1446692 rs146445434	889	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
COSM20612 CA4392586 rs762016655 VAR_042188	889	R>W	Variant assessed as Somatic; 0.0 impact. stomach a gastric adenocarcinoma sample; somatic mutation [NCI-TCGA, Cosmic, UniProt]	No	ClinGen cosmic curated UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs35638378 RCV000954112 CA4392584 VAR_042189 RCV002427387	890	E>D		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	890	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1357852255 CA368566787	890	E>Q		No	ClinGen TOPMed
rs140332222 CA4392581	893	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4392580 rs146768192	893	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs140332222 CA4392582	893	G>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA368566751 rs1441164897	894	A>S		No	ClinGen TOPMed
CA368566753 rs1441164897	894	A>T		No	ClinGen TOPMed
CA368566738 rs1584652558	896	H>P		No	ClinGen Ensembl
CA368566735 rs750256169 CA4392551	896	H>Q		No	ClinGen ExAC gnomAD
CA368566716 rs1584652539	900	D>A		No	ClinGen Ensembl
CA4392548 rs200795996	900	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs200795996 CA4392549	900	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA368566706 rs1427587771	901	Q>R		No	ClinGen TOPMed gnomAD
CA4392546 rs760826885	902	R>Q		No	ClinGen ExAC gnomAD
rs200953030 CA4392547	902	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA4392543 rs372947329	904	P>R		No	ClinGen ESP ExAC gnomAD
CA368566690 rs1203411135	904	P>S		No	ClinGen gnomAD
CA4392541 rs370570826	906	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA4392542 rs774766128	906	Y>C		No	ClinGen ExAC gnomAD
rs1258169121 CA368566678	906	Y>H		No	ClinGen gnomAD
rs747850963 CA4392540	908	A>V		No	ClinGen ExAC gnomAD
CA368566631 rs1404035679	913	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs779375256 CA4392536	914	E>K		No	ClinGen ExAC gnomAD
rs758418031 CA4392535	916	L>V		No	ClinGen ExAC gnomAD
COSM1083132 CA4392533 rs778891426	917	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs745795112 CA4392534	917	R>W		No	ClinGen ExAC gnomAD
rs1384095247 CA368566605	918	A>T		No	ClinGen gnomAD
CA4392532 rs555916971	919	I>M		No	ClinGen 1000Genomes ExAC gnomAD
CA163275839 rs537821193	920	K>R		No	ClinGen 1000Genomes
rs753634998 CA4392531	923	R>G		No	ClinGen ExAC gnomAD
rs988244962 CA163275836	923	R>S		No	ClinGen Ensembl
rs764404042 CA163275835	924	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1402113060 CA368566551	924	Y>C		No	ClinGen TOPMed gnomAD
CA4392529 rs756221021	925	E>G		No	ClinGen ExAC
CA368566542 rs1194499047	925	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA163275829 rs1056997	926	E>D		No	ClinGen Ensembl
CA4392527 rs199674277	927	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs774821339 CA368566485	929	A>P		No	ClinGen ExAC TOPMed gnomAD
CA4392525 rs774821339	929	A>T		No	ClinGen ExAC TOPMed gnomAD
CA4392523 rs763338678	930	A>T		No	ClinGen ExAC gnomAD
rs1304579305 CA368566464	931	A>T		No	ClinGen gnomAD
rs768368981 CA4392521	934	G>V		No	ClinGen ExAC gnomAD
rs936560635 CA163275823	935	S>C		No	ClinGen gnomAD
CA4392519 rs567264878	936	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368566367 rs1406094457	938	L>R		No	ClinGen gnomAD
rs1473407083 CA368566362	939	V>I		No	ClinGen gnomAD
CA4392516 rs779012015	940	S>N		No	ClinGen ExAC gnomAD
rs1180064630 CA368566330	941	Q>L		No	ClinGen gnomAD
rs1180064630 CA368566332	941	Q>R		No	ClinGen gnomAD
CA368566295 rs1416014305	944	A>T		No	ClinGen gnomAD
CA368566286 rs1207508034	944	A>V		No	ClinGen gnomAD
CA163275174 rs998394553	946	D>E		No	ClinGen TOPMed
CA4392490 rs780095931	946	D>G		No	ClinGen ExAC TOPMed gnomAD
rs758969373 CA4392489	947	L>M		No	ClinGen ExAC gnomAD
CA4392488 rs750862933	949	R>G		No	ClinGen ExAC gnomAD
CA4392487 rs373446670	949	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA368566133 rs1479132738	951	G>R		No	ClinGen gnomAD
CA368566116 rs1371350015	953	T>I		No	ClinGen gnomAD
CA4392486 rs139196073	955	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA368566074 rs1251873744	960	K>E		No	ClinGen TOPMed
TCGA novel	960	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1188232249 CA368566046	964	S>G		No	ClinGen Ensembl
rs767280149 CA4392484	965	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1263559497 CA368566034	966	Q>K		No	ClinGen gnomAD
rs1220526333 CA368566030	966	Q>R		No	ClinGen gnomAD
CA163275150 rs889742064	968	M>T		No	ClinGen Ensembl
CA163275137 rs1007131202	970	S>P		No	ClinGen TOPMed gnomAD
CA4392482 rs534188389	971	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
CA368565994 rs534188389	971	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1365926219 CA368565986	972	A>D		No	ClinGen gnomAD
rs1451136099 CA368565972	974	P>L		No	ClinGen gnomAD
CA4392481 rs770536938	974	P>S		No	ClinGen ExAC TOPMed gnomAD
CA368565971 rs1437430146	975	G>R		No	ClinGen gnomAD
CA4392479 rs773050327	977	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA368565957 rs1335292237	977	P>S		No	ClinGen TOPMed gnomAD
rs1306261996 CA368565950	978	G>A		No	ClinGen TOPMed
rs1306261996 CA368565949	978	G>D		No	ClinGen TOPMed
rs1167378637 CA368565937	980	T>I		No	ClinGen gnomAD
CA368565930 rs1392130995	982	G>R		No	ClinGen gnomAD
rs1046460658 CA163275115	983	P>A		No	ClinGen TOPMed gnomAD
CA4392474 rs768926072	983	P>L		No	ClinGen ExAC TOPMed gnomAD
rs768926072 CA4392473	983	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1435711115 CA368565917	984	A>G		No	ClinGen gnomAD
CA4392470 rs140842916	985	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA368565913 rs1271900368	985	P>S		No	ClinGen gnomAD
CA368565910 rs1312285225	986	Q>K		No	ClinGen gnomAD
rs1442631621 CA368565906	986	Q>R		No	ClinGen TOPMed

No associated diseases with P54760

13 regional properties for P54760

Type	Name	Position	InterPro Accession
domain	Kringle	351 - 431	IPR000001
domain	Protein kinase domain	590 - 870	IPR000719
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	591 - 857	IPR001245
domain	Immunoglobulin subtype 2	50 - 117	IPR003598
domain	Immunoglobulin subtype	44 - 128	IPR003599
domain	Immunoglobulin-like domain	36 - 126	IPR007110
active_site	Tyrosine-protein kinase, active site	722 - 734	IPR008266
domain	Immunoglobulin I-set	40 - 127	IPR013098
binding_site	Protein kinase, ATP binding site	596 - 625	IPR017441
conserved_site	Kringle, conserved site	400 - 413	IPR018056
domain	Frizzled domain	200 - 332	IPR020067
domain	Tyrosine-protein kinase, catalytic domain	590 - 857	IPR020635
domain	Ror-like, cysteine-rich domain	203 - 335	IPR041775

Functions

		Description
EC Number	2.7.10.1	Protein-tyrosine kinases
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
dendrite	A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

4 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ephrin receptor activity	Combining with an ephrin receptor ligand to initiate a change in cell activity.
transmembrane receptor protein tyrosine kinase activity	Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction
transmembrane-ephrin receptor activity	Combining with a transmembrane ephrin to initiate a change in cell activity.

7 GO annotations of biological process

Name	Definition
angiogenesis	Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
axon guidance	The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
cell adhesion	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
cell migration involved in sprouting angiogenesis	The orderly movement of endothelial cells into the extracellular matrix in order to form new blood vessels involved in sprouting angiogenesis.
ephrin receptor signaling pathway	The series of molecular signals initiated by ephrin binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription.
heart morphogenesis	The developmental process in which the heart is generated and organized. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.
protein autophosphorylation	The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation).

88 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P28693	EPHB2	Ephrin type-B receptor 2	Gallus gallus (Chicken)	PR
Q07496	EPHA4	Ephrin type-A receptor 4	Gallus gallus (Chicken)	SS
Q07494	EPHB1	Ephrin type-B receptor 1	Gallus gallus (Chicken)	SS
Q07497	EPHB5	Ephrin type-B receptor 5	Gallus gallus (Chicken)	PR
P29318	EPHA3	Ephrin type-A receptor 3	Gallus gallus (Chicken)	SS
O42422	EPHA7	Ephrin type-A receptor 7	Gallus gallus (Chicken)	SS
P54755	EPHA5	Ephrin type-A receptor 5	Gallus gallus (Chicken)	SS
Q07498	EPHB3	Ephrin type-B receptor 3	Gallus gallus (Chicken)	SS
P0C0K6	EPHB6	Ephrin type-B receptor 6	Pan troglodytes (Chimpanzee)	SS
P29322	EPHA8	Ephrin type-A receptor 8	Homo sapiens (Human)	SS
P54764	EPHA4	Ephrin type-A receptor 4	Homo sapiens (Human)	SS
P54753	EPHB3	Ephrin type-B receptor 3	Homo sapiens (Human)	SS
P29320	EPHA3	Ephrin type-A receptor 3	Homo sapiens (Human)	PR
Q15375	EPHA7	Ephrin type-A receptor 7	Homo sapiens (Human)	SS
Q5JZY3	EPHA10	Ephrin type-A receptor 10	Homo sapiens (Human)	SS
P29323	EPHB2	Ephrin type-B receptor 2	Homo sapiens (Human)	EV
Q9UF33	EPHA6	Ephrin type-A receptor 6	Homo sapiens (Human)	SS
P54762	EPHB1	Ephrin type-B receptor 1	Homo sapiens (Human)	SS
P54756	EPHA5	Ephrin type-A receptor 5	Homo sapiens (Human)	SS
O15197	EPHB6	Ephrin type-B receptor 6	Homo sapiens (Human)	SS
P07949	RET	Proto-oncogene tyrosine-protein kinase receptor Ret	Homo sapiens (Human)	EV
O15146	MUSK	Muscle, skeletal receptor tyrosine-protein kinase	Homo sapiens (Human)	EV
Q01974	ROR2	Tyrosine-protein kinase transmembrane receptor ROR2	Homo sapiens (Human)	EV
Q01973	ROR1	Inactive tyrosine-protein kinase transmembrane receptor ROR1	Homo sapiens (Human)	PR
Q16832	DDR2	Discoidin domain-containing receptor 2	Homo sapiens (Human)	SS
Q08345	DDR1	Epithelial discoidin domain-containing receptor 1	Homo sapiens (Human)	EV
Q16620	NTRK2	BDNF/NT-3 growth factors receptor	Homo sapiens (Human)	EV
P04629	NTRK1	High affinity nerve growth factor receptor	Homo sapiens (Human)	EV
Q16288	NTRK3	NT-3 growth factor receptor	Homo sapiens (Human)	SS
P35916	FLT4	Vascular endothelial growth factor receptor 3	Homo sapiens (Human)	SS
P17948	FLT1	Vascular endothelial growth factor receptor 1	Homo sapiens (Human)	SS
P35968	KDR	Vascular endothelial growth factor receptor 2	Homo sapiens (Human)	EV
P29317	EPHA2	Ephrin type-A receptor 2	Homo sapiens (Human)	SS
P21709	EPHA1	Ephrin type-A receptor 1	Homo sapiens (Human)	SS
P29376	LTK	Leukocyte tyrosine kinase receptor	Homo sapiens (Human)	SS
Q9UM73	ALK	ALK tyrosine kinase receptor	Homo sapiens (Human)	EV
P08922	ROS1	Proto-oncogene tyrosine-protein kinase ROS	Homo sapiens (Human)	SS
P14616	INSRR	Insulin receptor-related protein	Homo sapiens (Human)	SS
P08069	IGF1R	Insulin-like growth factor 1 receptor	Homo sapiens (Human)	EV
P06213	INSR	Insulin receptor	Homo sapiens (Human)	EV
P11362	FGFR1	Fibroblast growth factor receptor 1	Homo sapiens (Human)	EV
P21802	FGFR2	Fibroblast growth factor receptor 2	Homo sapiens (Human)	EV
P22455	FGFR4	Fibroblast growth factor receptor 4	Homo sapiens (Human)	SS
P22607	FGFR3	Fibroblast growth factor receptor 3	Homo sapiens (Human)	EV
Q12866	MERTK	Tyrosine-protein kinase Mer	Homo sapiens (Human)	EV
Q04912	MST1R	Macrophage-stimulating protein receptor	Homo sapiens (Human)	EV
P30530	AXL	Tyrosine-protein kinase receptor UFO	Homo sapiens (Human)	PR
Q06418	TYRO3	Tyrosine-protein kinase receptor TYRO3	Homo sapiens (Human)	SS
P08581	MET	Hepatocyte growth factor receptor	Homo sapiens (Human)	EV
P04626	ERBB2	Receptor tyrosine-protein kinase erbB-2	Homo sapiens (Human)	SS
Q15303	ERBB4	Receptor tyrosine-protein kinase erbB-4	Homo sapiens (Human)	SS
P21860	ERBB3	Receptor tyrosine-protein kinase erbB-3	Homo sapiens (Human)	SS
P00533	EGFR	Epidermal growth factor receptor	Homo sapiens (Human)	EV
P34925	RYK	Tyrosine-protein kinase RYK	Homo sapiens (Human)	PR
Q02763	TEK	Angiopoietin-1 receptor	Homo sapiens (Human)	SS
P35590	TIE1	Tyrosine-protein kinase receptor Tie-1	Homo sapiens (Human)	PR
P10721	KIT	Mast/stem cell growth factor receptor Kit	Homo sapiens (Human)	EV
P09619	PDGFRB	Platelet-derived growth factor receptor beta	Homo sapiens (Human)	EV
P07333	CSF1R	Macrophage colony-stimulating factor 1 receptor	Homo sapiens (Human)	SS
P16234	PDGFRA	Platelet-derived growth factor receptor alpha	Homo sapiens (Human)	EV
P36888	FLT3	Receptor-type tyrosine-protein kinase FLT3	Homo sapiens (Human)	EV
P54754	Ephb3	Ephrin type-B receptor 3	Mus musculus (Mouse)	SS
Q03145	Epha2	Ephrin type-A receptor 2	Mus musculus (Mouse)	PR
Q03137	Epha4	Ephrin type-A receptor 4	Mus musculus (Mouse)	SS
Q61772	Epha7	Ephrin type-A receptor 7	Mus musculus (Mouse)	SS
O09127	Epha8	Ephrin type-A receptor 8	Mus musculus (Mouse)	SS
Q8CBF3	Ephb1	Ephrin type-B receptor 1	Mus musculus (Mouse)	SS
Q8BYG9	Epha10	Ephrin type-A receptor 10	Mus musculus (Mouse)	SS
Q60629	Epha5	Ephrin type-A receptor 5	Mus musculus (Mouse)	SS
P29319	Epha3	Ephrin type-A receptor 3	Mus musculus (Mouse)	SS
Q62413	Epha6	Ephrin type-A receptor 6	Mus musculus (Mouse)	SS
Q60750	Epha1	Ephrin type-A receptor 1	Mus musculus (Mouse)	SS
P54763	Ephb2	Ephrin type-B receptor 2	Mus musculus (Mouse)	SS
O08644	Ephb6	Ephrin type-B receptor 6	Mus musculus (Mouse)	PR
P54761	Ephb4	Ephrin type-B receptor 4	Mus musculus (Mouse)	PR
P54757	Epha5	Ephrin type-A receptor 5	Rattus norvegicus (Rat)	SS
P54759	Epha7	Ephrin type-A receptor 7	Rattus norvegicus (Rat)	SS
P09759	Ephb1	Ephrin type-B receptor 1	Rattus norvegicus (Rat)	SS
P0C0K7	Ephb6	Ephrin type-B receptor 6	Rattus norvegicus (Rat)	SS
O08680	Epha3	Ephrin type-A receptor 3	Rattus norvegicus (Rat)	SS
O61460	vab-1	Ephrin receptor 1	Caenorhabditis elegans	SS
Q8RWZ5	SD25	G-type lectin S-receptor-like serine/threonine-protein kinase SD2-5	Arabidopsis thaliana (Mouse-ear cress)	PR
Q94AG2	SERK1	Somatic embryogenesis receptor kinase 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q3E991	PRK6	Pollen receptor-like kinase 6	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FXF2	RKF1	Probable LRR receptor-like serine/threonine-protein kinase RFK1	Arabidopsis thaliana (Mouse-ear cress)	PR
O13147	ephb3	Ephrin type-B receptor 3	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
O13146	epha3	Ephrin type-A receptor 3	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
O73878	ephb4b	Ephrin type-B receptor 4b	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MELRVLLCWA	SLAAALEETL	LNTKLETADL	KWVTFPQVDG	QWEELSGLDE	EQHSVRTYEV
70	80	90	100	110	120
CDVQRAPGQA	HWLRTGWVPR	RGAVHVYATL	RFTMLECLSL	PRAGRSCKET	FTVFYYESDA
130	140	150	160	170	180
DTATALTPAW	MENPYIKVDT	VAAEHLTRKR	PGAEATGKVN	VKTLRLGPLS	KAGFYLAFQD
190	200	210	220	230	240
QGACMALLSL	HLFYKKCAQL	TVNLTRFPET	VPRELVVPVA	GSCVVDAVPA	PGPSPSLYCR
250	260	270	280	290	300
EDGQWAEQPV	TGCSCAPGFE	AAEGNTKCRA	CAQGTFKPLS	GEGSCQPCPA	NSHSNTIGSA
310	320	330	340	350	360
VCQCRVGYFR	ARTDPRGAPC	TTPPSAPRSV	VSRLNGSSLH	LEWSAPLESG	GREDLTYALR
370	380	390	400	410	420
CRECRPGGSC	APCGGDLTFD	PGPRDLVEPW	VVVRGLRPDF	TYTFEVTALN	GVSSLATGPV
430	440	450	460	470	480
PFEPVNVTTD	REVPPAVSDI	RVTRSSPSSL	SLAWAVPRAP	SGAVLDYEVK	YHEKGAEGPS
490	500	510	520	530	540
SVRFLKTSEN	RAELRGLKRG	ASYLVQVRAR	SEAGYGPFGQ	EHHSQTQLDE	SEGWREQLAL
550	560	570	580	590	600
IAGTAVVGVV	LVLVVIVVAV	LCLRKQSNGR	EAEYSDKHGQ	YLIGHGTKVY	IDPFTYEDPN
610	620	630	640	650	660
EAVREFAKEI	DVSYVKIEEV	IGAGEFGEVC	RGRLKAPGKK	ESCVAIKTLK	GGYTERQRRE
670	680	690	700	710	720
FLSEASIMGQ	FEHPNIIRLE	GVVTNSMPVM	ILTEFMENGA	LDSFLRLNDG	QFTVIQLVGM
730	740	750	760	770	780
LRGIASGMRY	LAEMSYVHRD	LAARNILVNS	NLVCKVSDFG	LSRFLEENSS	DPTYTSSLGG
790	800	810	820	830	840
KIPIRWTAPE	AIAFRKFTSA	SDAWSYGIVM	WEVMSFGERP	YWDMSNQDVI	NAIEQDYRLP
850	860	870	880	890	900
PPPDCPTSLH	QLMLDCWQKD	RNARPRFPQV	VSALDKMIRN	PASLKIVARE	NGGASHPLLD
910	920	930	940	950	960
QRQPHYSAFG	SVGEWLRAIK	MGRYEESFAA	AGFGSFELVS	QISAEDLLRI	GVTLAGHQKK
970	980
ILASVQHMKS	QAKPGTPGGT	GGPAPQY

Descriptions

Annotation based on sequence homology with P29323

Autoinhibitory domains (AIDs)

Accessory elements

757-785 (Activation loop from InterPro)

757-785 (Activation loop from InterPro)

References

Autoinhibited structure

Activated structure

24 structures for P54760

892 variants for P54760

No associated diseases with P54760

13 regional properties for P54760

Functions

6 GO annotations of cellular component

4 GO annotations of molecular function

7 GO annotations of biological process

88 homologous proteins in AiPD