AiPD: Autoinhibited Protein Database

P17948

Gene name	FLT1 (FLT, FRT, VEGFR1)
Protein name	Vascular endothelial growth factor receptor 1
Names	VEGFR-1, Fms-like tyrosine kinase 1, FLT-1, Tyrosine-protein kinase FRT, Tyrosine-protein kinase receptor FLT, FLT, Vascular permeability factor receptor
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2321
EC number	2.7.10.1: Protein-tyrosine kinases
Protein Class

Descriptions

FLT1 is a tyrosine-protein kinase that acts as cell-surface receptor for VEGFA, VEGFB and PGF and regulates angiogenesis, cell survival, cell migration, macrophage function, chemotaxis, and cancer cell invasion. The juxtamembrane region (between the transmembrane helix and the cytoplasmic kinase domain) negatively regulates catalytic activity in various receptor tyrosine kinases, and this autoinhibition is relieved through ligand-stimulated Tyr phosphorylation.

Autoinhibitory domains (AIDs)

781-826 (Juxtamembrane domain) SS

Target domain	827-1158 (Protein kinase domain)
Relief mechanism	PTM, Ligand binding
Assay

AID

781-826 (Juxtamembrane domain)

Target domain

827-1158 (Protein kinase domain)

Relief mechanism

PTM (Transphosphorylation of tyrosine residues on JM domain), Ligand binding (Cytokine FLT3LG binding leading to dimerization of the receptor and autophosphorylation)

Assay

Accessory elements

1039-1064 (Activation loop from InterPro)

Target domain	827-1158 (Protein kinase domain)
Relief mechanism
Assay

References

Roskoski R Jr (2008) "VEGF receptor protein-tyrosine kinases: structure and regulation", Biochemical and biophysical research communications, 375, 287-91

Wang X et al. (2020) "Molecular Bases of VEGFR-2-Mediated Physiological Function and Pathological Role", Frontiers in cell and developmental biology, 8, 599281

Shewchuk LM et al. (2000) "Structure of the Tie2 RTK domain: self-inhibition by the nucleotide binding loop, activation loop, and C-terminal tail", Structure (London, England : 1993), 8, 1105-13

Stuttfeld E et al. (2009) "Structure and function of VEGF receptors", IUBMB life, 61, 915-22

Griffith J et al. (2004) "The structural basis for autoinhibition of FLT3 by the juxtamembrane domain", Molecular cell, 13, 169-78

Reindl C et al. (2006) "From kinases to cancer: leakiness, loss of autoinhibition and leukemia", Cell cycle (Georgetown, Tex.), 5, 599-602

Jiang J et al. (2004) "Identifying and characterizing a novel activating mutation of the FLT3 tyrosine kinase in AML", Blood, 104, 1855-8

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

Chiara F et al. (2004) "Autoinhibition of the platelet-derived growth factor beta-receptor tyrosine kinase by its C-terminal tail", The Journal of biological chemistry, 279, 19732-8

Mol CD et al. (2004) "Structural basis for the autoinhibition and STI-571 inhibition of c-Kit tyrosine kinase", The Journal of biological chemistry, 279, 31655-63

Zhang X et al. (2006) "An allosteric mechanism for activation of the kinase domain of epidermal growth factor receptor", Cell, 125, 1137-49

Ferguson KM et al. (2003) "EGF activates its receptor by removing interactions that autoinhibit ectodomain dimerization", Molecular cell, 11, 507-17

Whitson KB et al. (2005) "Functional effects of glycosylation at Asn-579 of the epidermal growth factor receptor", Biochemistry, 44, 14920-31

Contessa JN et al. (2008) "Inhibition of N-linked glycosylation disrupts receptor tyrosine kinase signaling in tumor cells", Cancer research, 68, 3803-9

Yokoyama N et al. (2005) "The C terminus of RON tyrosine kinase plays an autoinhibitory role", The Journal of biological chemistry, 280, 8893-900

Huang X et al. (2009) "Structural insights into the inhibited states of the Mer receptor tyrosine kinase", Journal of structural biology, 165, 88-96

Lew ED et al. (2007) "Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation", Proceedings of the National Academy of Sciences of the United States of America, 104, 19802-7

Kalinina J et al. (2012) "The alternatively spliced acid box region plays a key role in FGF receptor autoinhibition", Structure (London, England : 1993), 20, 77-88

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

Bossi RT et al. (2010) "Crystal structures of anaplastic lymphoma kinase in complex with ATP competitive inhibitors", Biochemistry, 49, 6813-25

Donella-Deana A et al. (2005) "Unique substrate specificity of anaplastic lymphoma kinase (ALK): development of phosphoacceptor peptides for the assay of ALK activity", Biochemistry, 44, 8533-42

Arevalo JC et al. (2000) "TrkA immunoglobulin-like ligand binding domains inhibit spontaneous activation of the receptor", Molecular and cellular biology, 20, 5908-16

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

Shen J et al. (2019) "Extracellular Juxtamembrane Motif Critical for TrkB Preformed Dimer and Activation", Cells, 8,

Sammon D et al. (2020) "Two-step release of kinase autoinhibition in discoidin domain receptor 1", Proceedings of the National Academy of Sciences of the United States of America, 117, 22051-22060

Fu HL et al. (2014) "Glycosylation at Asn211 regulates the activation state of the discoidin domain receptor 1 (DDR1)", The Journal of biological chemistry, 289, 9275-87

Knowles PP et al. (2006) "Structure and chemical inhibition of the RET tyrosine kinase domain", The Journal of biological chemistry, 281, 33577-87

Autoinhibited structure

Activated structure

13 structures for P17948

Entry ID	Method	Resolution	Chain	Position	Source
1FLT	X-ray	170 A	X/Y	132-226	PDB
1QSV	NMR	-	A	129-229	PDB
1QSZ	NMR	-	A	129-229	PDB
1QTY	X-ray	270 A	T/U/X/Y	129-229	PDB
1RV6	X-ray	245 A	X/Y	130-229	PDB
2XAC	X-ray	271 A	C/X	129-226	PDB
3HNG	X-ray	270 A	A	801-1158	PDB
4CKV	X-ray	206 A	X	132-225	PDB
4CL7	X-ray	200 A	A/B/C/D	132-225	PDB
5ABD	X-ray	200 A	E/I/X	132-226	PDB
5EX3	X-ray	241 A	D	827-835	PDB
5T89	X-ray	400 A	X/Y	27-656	PDB
AF-P17948-F1	Predicted				AlphaFoldDB

915 variants for P17948

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000186550 rs796052115	815	Y>missing	Carcinoma of colon [ClinVar]	Yes	ClinVar dbSNP
RCV000149495 rs555490448	886	G>missing	Carcinoma of colon [ClinVar]	Yes	ClinVar dbSNP
RCV000149492 rs573848371	1015	S>missing	Carcinoma of colon [ClinVar]	Yes	ClinVar dbSNP
rs730882263 CA251217 RCV000162254	1110	C>S	Carcinoma of colon [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA6930939 rs779796008	2	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1047423171 CA247658270	3	S>G		No	ClinGen TOPMed gnomAD
CA247658269 rs930219341	4	Y>H		No	ClinGen TOPMed
rs1182975792 CA387694730	4	Y>S		No	ClinGen gnomAD
CA6930936 rs200728664 RCV000901419	6	D>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA387694702 rs1212173058	7	T>N		No	ClinGen gnomAD
rs1212173058 CA387694701	7	T>S		No	ClinGen gnomAD
rs757148061 CA6930935	8	G>A		No	ClinGen ExAC TOPMed gnomAD
CA387694697 rs757148061	8	G>E		No	ClinGen ExAC TOPMed gnomAD
rs868598005 CA387694699	8	G>R		No	ClinGen gnomAD
rs868598005 CA247658268	8	G>W		No	ClinGen gnomAD
rs942859011 CA247658267	9	V>I		No	ClinGen TOPMed
CA6930934 rs560163565	12	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387694663 rs779158951	13	A>P		No	ClinGen ExAC TOPMed gnomAD
rs779158951 CA6930933	13	A>T		No	ClinGen ExAC TOPMed gnomAD
CA247658266 rs866860038	14	L>M		No	ClinGen Ensembl
rs1228400858 CA387694625	16	S>N		No	ClinGen gnomAD
CA247658265 rs866348458	16	S>R		No	ClinGen Ensembl
CA6930932 rs755226981	17	C>Y		No	ClinGen ExAC gnomAD
CA387694608 rs1250946247	18	L>P		No	ClinGen TOPMed
rs1304722504 CA387694593	20	L>F		No	ClinGen gnomAD
CA387697504 rs1403811282	22	G>A		No	ClinGen TOPMed
CA387697485 rs1377493987	25	S>L		No	ClinGen gnomAD
rs1566046055 CA387697482	26	G>S		No	ClinGen Ensembl
rs1363235063 CA387697469	28	K>E		No	ClinGen gnomAD
CA6930914 rs779103709	32	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1249069762 CA387697428	33	E>D		No	ClinGen gnomAD
CA247655222 rs548429285	35	S>T		No	ClinGen 1000Genomes
CA387697396 rs1464146066	38	G>D		No	ClinGen gnomAD
rs1331970004 CA387697383	40	Q>R		No	ClinGen TOPMed
rs1201672564 CA387697377	41	H>Y		No	ClinGen gnomAD
CA387697370 rs1255284463	42	I>V		No	ClinGen gnomAD
rs192104849 CA6930910	43	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749507400 CA6930911	43	M>K		No	ClinGen ExAC TOPMed gnomAD
CA387697361 rs749507400	43	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1232024252 CA387697363	43	M>V		No	ClinGen gnomAD
CA6930909 rs756290512	45	A>E		No	ClinGen ExAC gnomAD
CA387697349 rs1434165571	45	A>T		No	ClinGen gnomAD
CA247655221 rs756290512	45	A>V		No	ClinGen ExAC gnomAD
CA6930908 rs750756366	46	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1336404221 CA387697343	46	G>S		No	ClinGen TOPMed gnomAD
rs1224504477 CA387697317	50	H>R		No	ClinGen TOPMed
CA6930907 rs767792497	51	L>F		No	ClinGen ExAC TOPMed gnomAD
rs141440705 CA6930889	54	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1566045576 CA387697246	59	H>Y		No	ClinGen Ensembl
CA247655182 VAR_042045 rs56409818	60	K>T		No	ClinGen UniProt Ensembl dbSNP
rs1435824046 CA387697228	61	W>L		No	ClinGen gnomAD
CA387697190 rs1314880424	66	M>I		No	ClinGen TOPMed
COSM550875 COSM1649034 COSM1140378 CA387697193 rs1210263660	66	M>T	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6930886 rs757680099	67	V>L		No	ClinGen ExAC gnomAD
rs1291739172 CA387697181	68	S>C		No	ClinGen gnomAD
CA6930885 rs751938150	68	S>T		No	ClinGen ExAC gnomAD
rs956827111 CA247655180	70	E>G		No	ClinGen TOPMed gnomAD
rs1351200892 CA387697168	70	E>K		No	ClinGen gnomAD
rs1440694168 CA387697161	71	S>G		No	ClinGen gnomAD
rs570784764 CA6930884	71	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6930883 rs758936491 COSM288329	72	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1393191546 CA387697131	75	S>N		No	ClinGen TOPMed gnomAD
CA247655176 rs116829674	76	I>M		No	ClinGen 1000Genomes gnomAD
CA247655177 rs201080437	76	I>T		No	ClinGen Ensembl
CA387697115 rs1473258446	78	K>E		No	ClinGen gnomAD
rs1412106014 CA387697113	78	K>T		No	ClinGen gnomAD
CA387697107 rs1176165998	79	S>P		No	ClinGen gnomAD
rs1468516861 CA387697099	80	A>D		No	ClinGen gnomAD
CA6930881 rs764704371	85	G>S		No	ClinGen ExAC TOPMed gnomAD
CA6930880 rs759197488	86	K>R		No	ClinGen ExAC TOPMed gnomAD
rs537439156 CA6930879	87	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1210849720 CA387697052	87	Q>R		No	ClinGen gnomAD
rs1267555186 CA387697010	93	T>S		No	ClinGen gnomAD
CA247655174 rs935792394	96	T>A		No	ClinGen Ensembl
rs1370351687 CA387696979	98	Q>K		No	ClinGen gnomAD
CA387696976 rs1275963178	98	Q>P		No	ClinGen gnomAD
COSM1152641 CA387696918 rs1369267607	106	S>N	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA387696889 rs1388984299	110	L>I		No	ClinGen TOPMed gnomAD
CA6930871 rs746092797	111	A>G		No	ClinGen ExAC gnomAD
CA6930872 rs746092797	111	A>V		No	ClinGen ExAC gnomAD
rs781214413 CA6930870	113	P>S		No	ClinGen ExAC TOPMed gnomAD
rs148901240 CA6930869	114	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs148901240 CA6930868	114	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6930867 rs778137364	116	K>E		No	ClinGen ExAC gnomAD
CA387696823 rs1241808225	120	T>I		No	ClinGen TOPMed gnomAD
CA387696825 rs1241808225	120	T>K		No	ClinGen TOPMed gnomAD
CA387696827 rs1465498282	120	T>P		No	ClinGen gnomAD
CA6930865 rs753186667	122	S>P		No	ClinGen ExAC gnomAD
CA387696801 rs1566045248	124	I>V		No	ClinGen Ensembl
rs1314034308 CA387696795	125	Y>H		No	ClinGen gnomAD
rs1350981115 CA387696788	126	I>L		No	ClinGen TOPMed gnomAD
rs778479707 CA6930864	126	I>M		No	ClinGen ExAC gnomAD
CA387696787 rs1350981115	126	I>V		No	ClinGen TOPMed gnomAD
rs35073261 VAR_049719 CA6930863	128	I>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA247655173 rs896247729	128	I>M		No	ClinGen TOPMed gnomAD
CA247655172 rs972643971	129	S>G		No	ClinGen Ensembl
CA387696763 rs961177356	129	S>R		No	ClinGen gnomAD
rs140749618 CA6930827	132	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370381466 CA247652099	136	V>A		No	ClinGen ESP TOPMed
rs373801409 CA6930825	136	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387696687 rs1453147049	138	M>I		No	ClinGen TOPMed gnomAD
CA6930824 rs779677885	138	M>V		No	ClinGen ExAC gnomAD
rs1362559107 CA387696659	142	I>V		No	ClinGen TOPMed gnomAD
rs1270070382 CA387696649	143	P>L		No	ClinGen TOPMed
CA6930823 rs755750116	143	P>S		No	ClinGen ExAC TOPMed gnomAD
VAR_042046 COSM1366254 COSM1366253 CA6930821 rs55974987	144	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA6930819 rs751264101	146	I>M		No	ClinGen ExAC gnomAD
rs756967111 CA387696630	146	I>R		No	ClinGen ExAC TOPMed gnomAD
CA6930820 rs756967111	146	I>T		No	ClinGen ExAC TOPMed gnomAD
rs558999317 CA247652097	147	H>N		No	ClinGen TOPMed gnomAD
rs1593793160 CA387696618	148	M>T		No	ClinGen Ensembl
rs764002483 CA6930818	148	M>V		No	ClinGen ExAC gnomAD
CA6930817 rs758241248	149	T>I		No	ClinGen ExAC gnomAD
rs867762505 CA247652096	151	G>E		No	ClinGen Ensembl
CA247652095 rs941239701	152	R>K		No	ClinGen TOPMed gnomAD
CA387696581 rs1426453764	154	L>V		No	ClinGen TOPMed
CA6930816 rs116196813	155	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1593793112 CA387696562	157	P>S		No	ClinGen Ensembl
rs766436940 CA6930815 COSM357831	159	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1475917029 CA387696549	159	R>W		No	ClinGen TOPMed
rs539329072 CA6930814	160	V>I		No	ClinGen 1000Genomes ExAC gnomAD
COSM1252582 CA387696536 rs1161996687 COSM1252583	161	T>M	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1387615627 CA387696517	164	N>K		No	ClinGen TOPMed
rs1290255117 CA387696519	164	N>S		No	ClinGen TOPMed
CA387696493 rs1363282680	168	T>N		No	ClinGen gnomAD
CA6930811 rs762113174	170	K>I		No	ClinGen ExAC gnomAD
rs1215897277 COSM42746 CA387696404	179	P>R	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed
CA6930790 rs763344343 COSM1152640	180	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs776031003 CA6930789	181	G>R		No	ClinGen ExAC gnomAD
COSM1207257 rs770377283 CA6930788 COSM1207258	183	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs760170197 CA6930787	183	R>H		No	ClinGen ExAC TOPMed gnomAD
rs760170197 CA387696378	183	R>L		No	ClinGen ExAC TOPMed gnomAD
CA387696370 rs1273391046	185	I>L		No	ClinGen gnomAD
CA387696360 rs1337622453	186	W>*		No	ClinGen gnomAD
rs1233963110 CA387696349	187	D>E		No	ClinGen gnomAD
rs776254464 CA6930786	187	D>N		No	ClinGen ExAC gnomAD
CA387696332 rs1593788972	190	K>Q		No	ClinGen Ensembl
rs1291942412 CA387696329	190	K>R		No	ClinGen gnomAD
rs746631824 CA6930784	193	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6930783 rs777429596	194	I>L		No	ClinGen ExAC TOPMed gnomAD
CA387696303 rs777429596	194	I>V		No	ClinGen ExAC TOPMed gnomAD
rs747895856 CA6930781	195	S>L		No	ClinGen ExAC gnomAD
CA387696276 rs201044311	198	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM184524 COSM1587058 rs201044311 COSM1587057 CA6930780	198	T>M	pancreas large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA247651672 rs994464225	199	Y>H		No	ClinGen Ensembl
rs781127774 CA6930777	201	E>A		No	ClinGen ExAC TOPMed gnomAD
rs757413517 CA6930776	201	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1473500914 CA387696227	206	T>S		No	ClinGen gnomAD
CA6930775 rs751597628	207	C>*		No	ClinGen ExAC
CA247651670 rs762518912	210	T>A		No	ClinGen TOPMed
CA6930774 rs764338678	211	V>I		No	ClinGen ExAC TOPMed gnomAD
CA6930773 rs114217707	212	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1292266122 CA387696177	214	H>Y		No	ClinGen TOPMed gnomAD
CA387696169 rs1214595771	215	L>S		No	ClinGen gnomAD
rs373088980 CA6930771	216	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1271295656 CA387696153	217	K>R		No	ClinGen gnomAD
COSM1706619 CA247651669 COSM1706617 COSM1706618 rs1014160326	224	R>Q	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA387696098 rs1333235856	225	Q>L		No	ClinGen gnomAD
CA387696074 rs1323551249	227	N>S		No	ClinGen TOPMed gnomAD
CA247651660 rs770271048	228	T>A		No	ClinGen gnomAD
CA6930758 rs756038355	228	T>I		No	ClinGen ExAC gnomAD
rs747064531 CA6930757	229	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1396825628 CA387696043	232	V>I		No	ClinGen gnomAD
rs777764931 CA6930756	233	Q>H		No	ClinGen ExAC gnomAD
CA387696035 rs1156287806	233	Q>R		No	ClinGen TOPMed
rs886663908 CA247651658	235	S>I		No	ClinGen TOPMed
CA6930754 rs143703839	237	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs143703839 CA6930755	237	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs139202898 CA6930753 COSM1152639	238	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA387696007 rs139202898	238	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs755339233 COSM184523 CA6930752	238	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA387696003 rs1241547547	239	P>A		No	ClinGen gnomAD
rs867772301 CA247651656	244	R>G		No	ClinGen Ensembl
rs754160537 CA387695964	245	G>C		No	ClinGen ExAC gnomAD
CA6930751 rs754160537	245	G>S		No	ClinGen ExAC gnomAD
CA387695956 rs1281753273	246	H>R		No	ClinGen gnomAD
rs577873444 CA6930750	247	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA6930749 rs761106366	249	V>I		No	ClinGen ExAC gnomAD
CA387695934 rs1362252483	250	L>F		No	ClinGen gnomAD
rs772751830 CA387695930	251	N>D		No	ClinGen ExAC gnomAD
rs772751830 CA6930748	251	N>H		No	ClinGen ExAC gnomAD
CA6930747 rs767050810	251	N>S		No	ClinGen ExAC gnomAD
rs772751830 CA247651654	251	N>Y		No	ClinGen ExAC gnomAD
rs777250910 CA6930745	253	T>N		No	ClinGen ExAC
CA387695868 rs1433837792	260	T>M		No	ClinGen TOPMed gnomAD
CA6930742 rs775173527	262	V>I		No	ClinGen ExAC TOPMed gnomAD
CA387695846 rs1279174159	264	M>V		No	ClinGen TOPMed gnomAD
CA6930740 rs777907766	267	S>N		No	ClinGen ExAC gnomAD
CA6930739 rs777907766	267	S>T		No	ClinGen ExAC gnomAD
rs1201738240 CA387695813	268	Y>C		No	ClinGen gnomAD
rs758612495 CA6930738	270	D>N		No	ClinGen ExAC TOPMed gnomAD
rs566995849 CA6930724	275	R>K		No	ClinGen ExAC TOPMed gnomAD
rs759508113 CA6930722	275	R>S		No	ClinGen ExAC TOPMed gnomAD
rs759508113 CA6930723	275	R>S		No	ClinGen ExAC TOPMed gnomAD
rs776656338 CA6930721	276	A>V		No	ClinGen ExAC gnomAD
CA247651384 rs1002290930	277	S>P		No	ClinGen TOPMed
rs372354806 CA6930720	278	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6930719 rs141286646	280	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6930718 rs141286646	280	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA387695721 rs1593785328	281	R>*		No	ClinGen Ensembl
CA6930717 rs55687105 VAR_042047 COSM131722	281	R>Q	skin [Cosmic]	No	ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD
rs749508767 CA6930716	283	D>A		No	ClinGen ExAC gnomAD
rs1309136580 CA387695703	284	Q>E		No	ClinGen gnomAD
CA6930715 rs201208741	285	S>R		No	ClinGen ExAC TOPMed gnomAD
CA6930713 rs550288319	288	H>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387695668 rs1404613629	288	H>Q		No	ClinGen TOPMed
CA387695671 rs550288319	288	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781610873 CA6930712	290	N>I		No	ClinGen ExAC gnomAD
CA387695654 rs1395507963	291	I>V		No	ClinGen TOPMed gnomAD
rs1390746894 CA387695635	293	Y>C		No	ClinGen TOPMed
CA387695630 rs1166500663	294	S>G		No	ClinGen gnomAD
rs1460003540 CA387695621	295	V>I		No	ClinGen gnomAD
CA387695604 rs1432734867	298	I>V		No	ClinGen TOPMed
CA387695575 rs1037616024	301	M>I		No	ClinGen TOPMed gnomAD
CA247651382 rs1037616024	301	M>I		No	ClinGen TOPMed gnomAD
CA387695569 rs1340504868	302	Q>L		No	ClinGen TOPMed
CA247651381 rs75077152	304	K>E		No	ClinGen Ensembl
rs763633999 CA6930709	305	D>G		No	ClinGen ExAC gnomAD
rs762663070 CA6930708	306	K>E		No	ClinGen ExAC gnomAD
CA247651379 rs865824897	307	G>E		No	ClinGen Ensembl
CA6930705 rs759189221	312	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6930706 rs759189221	312	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM1579037 CA6930704 rs371426326 COSM1579036 COSM1579035	312	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC gnomAD
CA387695501 rs1233064858	313	V>I		No	ClinGen TOPMed
rs768316020 CA247651378	314	R>T		No	ClinGen Ensembl
CA6930703 rs770939728	315	S>N		No	ClinGen ExAC gnomAD
CA6930701 rs774536767	317	P>S		No	ClinGen ExAC gnomAD
CA6930700 rs768681920	318	S>P		No	ClinGen ExAC gnomAD
rs547950624 CA247651377	319	F>Y		No	ClinGen 1000Genomes
CA387695455 rs1306736097	320	K>R		No	ClinGen gnomAD
CA6930699 rs367585755	322	V>I		No	ClinGen ESP ExAC gnomAD
rs780080530 CA6930698	323	N>K		No	ClinGen ExAC gnomAD
CA6930697 rs770058018	324	T>S		No	ClinGen ExAC gnomAD
rs528381809 CA247651376	327	H>R		No	ClinGen 1000Genomes
CA247651290 rs926263904	332	A>G		No	ClinGen Ensembl
CA6930676 rs747391113	333	F>V		No	ClinGen ExAC gnomAD
CA387695332 rs747566037	337	K>E		No	ClinGen ExAC gnomAD
CA6930673 rs747566037	337	K>Q		No	ClinGen ExAC gnomAD
CA6930672 rs778531049	337	K>R		No	ClinGen ExAC gnomAD
CA387695323 rs982013779	338	H>P		No	ClinGen gnomAD
rs982013779 CA247651288	338	H>R		No	ClinGen gnomAD
CA6930671 rs370686484	339	R>L		No	ClinGen ExAC
CA6930670 rs370686484	339	R>Q		No	ClinGen ExAC
CA387695306 rs1339133014	341	Q>E		No	ClinGen TOPMed gnomAD
rs970591571 CA247651287	341	Q>R		No	ClinGen TOPMed gnomAD
rs755914108 CA6930668	342	Q>E		No	ClinGen ExAC gnomAD
CA6930666 rs767317998	343	V>M		No	ClinGen ExAC gnomAD
CA387695289 rs1368694048	344	L>I		No	ClinGen TOPMed
rs913747759 CA247651286	344	L>P		No	ClinGen gnomAD
rs913747759 CA387695285	344	L>R		No	ClinGen gnomAD
CA247651285 rs761831690	345	E>A		No	ClinGen ExAC gnomAD
CA6930665 rs761831690	345	E>G		No	ClinGen ExAC gnomAD
CA387695277 rs1295233868	346	T>A		No	ClinGen gnomAD
rs775403042 CA6930664	346	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1212400819 CA387695270	347	V>A		No	ClinGen TOPMed
COSM1578958 COSM1578959 rs143093353 COSM1578960 CA6930661	347	V>I	pancreas large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA6930660 rs771148828	348	A>G		No	ClinGen ExAC gnomAD
CA387695266 rs1412060347	348	A>T		No	ClinGen gnomAD
rs868425920 CA247651284	349	G>D		No	ClinGen Ensembl
CA387695262 rs1168186857	349	G>R		No	ClinGen gnomAD
rs772440220 CA387695249	351	R>P		No	ClinGen ExAC TOPMed gnomAD
rs772440220 CA6930657	351	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6930658 rs766441216	351	R>W		No	ClinGen ExAC gnomAD
CA387695232 rs763071731	354	R>P		No	ClinGen ExAC TOPMed gnomAD
CA6930654 rs763071731	354	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6930655 rs778277302	354	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1451595905 CA387695215	357	M>T		No	ClinGen TOPMed
rs1566022927 CA919235593	358	K>T		No	ClinGen Ensembl
rs1166423354 CA387695196	359	V>A		No	ClinGen TOPMed
CA6930650 rs750136660	362	F>S		No	ClinGen ExAC gnomAD
rs137862999 CA6930649	364	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6930648 rs757138085	365	P>L		No	ClinGen ExAC gnomAD
CA6930646 rs764034330	366	E>G		No	ClinGen ExAC gnomAD
rs1334763989 CA387695157	366	E>Q		No	ClinGen gnomAD
rs1336765952 CA387695148	367	V>D		No	ClinGen gnomAD
CA387695149 rs1444784133	367	V>I		No	ClinGen gnomAD
CA387695142 rs1325206169	368	V>E		No	ClinGen TOPMed
rs763670912 CA247651078	370	L>V		No	ClinGen Ensembl
CA387695086 rs1329187961	374	L>S		No	ClinGen TOPMed
rs757020625 CA6930631	376	A>E		No	ClinGen ExAC TOPMed gnomAD
rs757020625 CA387695072	376	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6930629 rs758922569	377	T>I		No	ClinGen ExAC TOPMed gnomAD
CA247651077 rs868043212	380	S>F		No	ClinGen Ensembl
rs767548480 CA6930628	381	A>P		No	ClinGen ExAC TOPMed gnomAD
CA6930627 rs544680968	381	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs766489043 CA6930626	382	R>C		No	ClinGen ExAC TOPMed gnomAD
rs766489043 CA387695041	382	R>G		No	ClinGen ExAC TOPMed gnomAD
rs974445913 CA247651076	382	R>H		No	ClinGen gnomAD
rs974445913 CA387695038	382	R>L		No	ClinGen gnomAD
CA387695040 rs766489043	382	R>S		No	ClinGen ExAC TOPMed gnomAD
rs765357374 CA6930625	383	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs750711298 CA6930624	386	R>C		No	ClinGen ExAC TOPMed gnomAD
rs141378173 CA6930623	386	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1437659960 CA387695004	388	Y>C		No	ClinGen gnomAD
rs762168211 CA6930622	388	Y>H		No	ClinGen ExAC gnomAD
CA247651075 rs1004788109	389	S>L		No	ClinGen TOPMed gnomAD
CA387694996 rs1004788109	389	S>W		No	ClinGen TOPMed gnomAD
rs372001306 CA247651074	393	K>R		No	ClinGen ESP TOPMed
CA387694961 rs775108754	394	D>E		No	ClinGen ExAC TOPMed gnomAD
COSM1645722 rs369255421 CA6930617 COSM469316 COSM1135485	395	V>I	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA6930615 rs780832234	398	E>K		No	ClinGen ExAC gnomAD
CA6930614 rs770523828	400	A>S		No	ClinGen ExAC gnomAD
rs995996532 CA247651072	402	N>S		No	ClinGen TOPMed
CA387694874 rs764448426	408	S>G		No	ClinGen gnomAD
rs764448426 CA247651071	408	S>R		No	ClinGen gnomAD
CA6930610 rs748146139	409	I>T		No	ClinGen ExAC gnomAD
CA6930611 rs758303730	409	I>V		No	ClinGen ExAC TOPMed gnomAD
rs780089707 CA6930609	411	Q>E		No	ClinGen ExAC gnomAD
rs1263065033 CA387694847	412	S>T		No	ClinGen gnomAD
rs750469661 CA6930607	416	K>T		No	ClinGen ExAC gnomAD
CA387694807 rs1593780776	417	N>T		No	ClinGen Ensembl
CA247651068 rs74559282	418	L>P		No	ClinGen Ensembl
CA387694799 rs757441417	419	T>A		No	ClinGen ExAC gnomAD
CA6930605 rs757441417	419	T>P		No	ClinGen ExAC gnomAD
rs199658437 CA387694787	421	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387694786 rs764593284	421	T>I		No	ClinGen ExAC gnomAD
CA6930603 rs764593284	421	T>S		No	ClinGen ExAC gnomAD
rs199658437 CA6930604	421	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1215792334 CA387694768	423	I>T		No	ClinGen gnomAD
rs757468777 CA6930587	426	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1159807935 CA387694646	428	P>S		No	ClinGen gnomAD
rs1293890604 CA387694631	429	Q>R		No	ClinGen gnomAD
CA387694605 rs1227506697	430	I>T		No	ClinGen gnomAD
COSM1721960 COSM1721958 COSM1721959 CA387694582 rs1473309404	432	E>K	NS [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs764424089 CA6930585	433	K>N		No	ClinGen ExAC gnomAD
CA6930583 rs753144948	435	V>M		No	ClinGen ExAC TOPMed gnomAD
COSM1587067 CA6930581 COSM946515 rs752383804 COSM1587066	437	S>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs544744915 CA6930579	438	F>S		No	ClinGen 1000Genomes ExAC
rs575779014 CA6930578	440	D>A		No	ClinGen 1000Genomes ExAC gnomAD
CA6930577 rs772790901	441	P>A		No	ClinGen ExAC gnomAD
rs771714708 CA6930576	441	P>L		No	ClinGen ExAC gnomAD
rs774035998 CA6930574	443	L>V		No	ClinGen ExAC TOPMed gnomAD
CA387694495 rs1196192259	444	Y>N		No	ClinGen gnomAD
rs1469456462 CA387694486	445	P>A		No	ClinGen gnomAD
CA6930569 rs747090435	448	S>G		No	ClinGen ExAC TOPMed gnomAD
CA247651016 rs968504707	449	R>K		No	ClinGen TOPMed
rs140566073 CA6930567	453	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778102453 CA6930568	453	T>S		No	ClinGen ExAC gnomAD
rs1240694448 CA387694418	455	T>I		No	ClinGen gnomAD
rs1240694448 CA387694419	455	T>S		No	ClinGen gnomAD
CA6930565 rs779189056	456	A>T		No	ClinGen ExAC gnomAD
CA6930564 rs755508412	456	A>V		No	ClinGen ExAC gnomAD
CA247651015 rs747317708	457	Y>C		No	ClinGen Ensembl
rs766918953 CA6930562	457	Y>N		No	ClinGen ExAC gnomAD
rs151270578 CA6930560	461	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA247651014 rs1044008389	463	T>I		No	ClinGen Ensembl
CA387694369 rs1593779951	464	I>V		No	ClinGen Ensembl
rs1160283304 CA387694357	465	K>N		No	ClinGen gnomAD
rs767105912 CA6930559	465	K>R		No	ClinGen ExAC gnomAD
rs1273157934 CA387694351	466	W>L		No	ClinGen TOPMed gnomAD
rs1330701828 CA387694330	469	H>N		No	ClinGen TOPMed
CA387694325 rs1593779928	469	H>P		No	ClinGen Ensembl
CA247651011 rs536464055	470	P>T		No	ClinGen Ensembl
rs895381104 CA247651010	471	C>Y		No	ClinGen TOPMed gnomAD
rs200003810 CA6930557	474	N>K		No	ClinGen ExAC gnomAD
CA387694284 rs1379280273	475	H>L		No	ClinGen gnomAD
CA387694282 rs1379280273	475	H>R		No	ClinGen gnomAD
CA6930555 rs201407326 COSM946514 COSM1587068 COSM1587069	477	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA387694260 rs1267370164	479	R>G		No	ClinGen gnomAD
rs1309375561 CA387665090	479	R>S		No	ClinGen gnomAD
rs1309375561 CA387665091	479	R>S		No	ClinGen gnomAD
rs1399874228 CA387665086	480	C>F		No	ClinGen gnomAD
rs769834654 CA6930530	480	C>S		No	ClinGen ExAC gnomAD
CA6930529 rs144685868	483	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs773424514 CA6930528	484	S>C		No	ClinGen ExAC gnomAD
rs1470186863 CA387665054	485	N>H		No	ClinGen TOPMed
CA387665050 rs1397036601	485	N>S		No	ClinGen TOPMed gnomAD
COSM231305 rs866351272 CA247342629	487	E>K	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1464261606 CA387665030	488	E>Q		No	ClinGen gnomAD
CA6930526 rs748278130	489	S>F		No	ClinGen ExAC gnomAD
CA387665000 rs1426917689	492	L>P		No	ClinGen gnomAD
rs1189778391 CA387664993	493	D>V		No	ClinGen gnomAD
CA6930523 rs749563950	494	A>T		No	ClinGen ExAC gnomAD
rs1255695941 CA387664974	496	S>N		No	ClinGen gnomAD
CA387664957 rs1481753902	498	M>T		No	ClinGen gnomAD
CA387664961 COSM1171959 rs1198904737 COSM1171960	498	M>V	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs61763181 COSM1743369 CA6930522 COSM1743367 COSM1743368	501	R>I	biliary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA6930521 rs61763181	501	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6930520 rs746439325	503	E>G		No	ClinGen ExAC gnomAD
CA6930518 rs756699326	504	S>T		No	ClinGen ExAC gnomAD
rs751112254 CA6930517	505	I>T		No	ClinGen ExAC TOPMed gnomAD
CA6930516 rs763606119	506	T>A		No	ClinGen ExAC TOPMed gnomAD
CA387664896 rs1393872506	507	Q>L		No	ClinGen gnomAD
CA6930515 rs764045713	508	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6930514 rs765194215	508	R>H		No	ClinGen ExAC TOPMed gnomAD
rs765194215 CA6930513	508	R>L		No	ClinGen ExAC TOPMed gnomAD
CA387664886 rs1383358551 COSM99064	509	M>T	stomach [Cosmic]	No	ClinGen cosmic curated TOPMed
CA387664878 rs1421364343	510	A>G		No	ClinGen gnomAD
CA6930512 rs759536168	510	A>S		No	ClinGen ExAC gnomAD
CA387664872 rs1473102567	511	I>R		No	ClinGen gnomAD
rs551785213 CA6930511	511	I>V		No	ClinGen ExAC gnomAD
rs766419777 CA6930510	512	I>M		No	ClinGen ExAC gnomAD
rs112588014 CA247342539	516	N>D		No	ClinGen Ensembl
CA6930509 rs761754607	516	N>K		No	ClinGen ExAC TOPMed gnomAD
CA387664634 rs1195864683	518	M>T		No	ClinGen TOPMed
rs1477765817 CA387664619	520	S>T		No	ClinGen gnomAD
rs201823282 CA247336875	528	R>*		No	ClinGen gnomAD
rs201823282 CA247336877	528	R>G		No	ClinGen gnomAD
CA387664558 rs1274412357	530	S>P		No	ClinGen TOPMed
CA387664545 rs1435730024	532	I>V		No	ClinGen TOPMed
rs376472185 CA6930489	534	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1593743974 CA387664530	534	I>V		No	ClinGen Ensembl
rs770007735 CA6930487	536	I>R		No	ClinGen ExAC gnomAD
CA6930488 rs775633041	536	I>V		No	ClinGen ExAC gnomAD
rs759844384 CA6930486	537	A>V		No	ClinGen ExAC gnomAD
rs1219274468 CA387664482	541	V>A		No	ClinGen gnomAD
rs200819753 COSM3764471 COSM3764470 CA247336855	541	V>F	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA247336826 rs141785971	544	V>G		No	ClinGen Ensembl
rs375023920 CA6930485	544	V>M		No	ClinGen ESP ExAC gnomAD
CA247336807 COSM106998 rs141906217	545	G>E	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs771310455 COSM3417505 COSM3417506 CA6930484	545	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs145358113 CA6930482	547	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000885485 rs148479824 CA6930481	548	I>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA247336803 rs370121817	548	I>V		No	ClinGen ESP
CA387664421 rs1397972227	551	Y>C		No	ClinGen gnomAD
CA6930479 rs202210823	552	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387664373 rs1489420353	556	P>L		No	ClinGen gnomAD
CA387664371 rs1266021232	557	N>D		No	ClinGen gnomAD
rs1220519097 CA387664368	557	N>S		No	ClinGen gnomAD
rs1356957421 CA387664361	558	G>E		No	ClinGen gnomAD
CA387664351 rs1287927612	559	F>L		No	ClinGen TOPMed gnomAD
CA387664345 rs1241074483	560	H>L		No	ClinGen gnomAD
CA387664346 rs1241074483	560	H>R		No	ClinGen gnomAD
CA387664338 rs1348443257	561	V>A		No	ClinGen TOPMed
CA6930440 rs773467897	562	N>I		No	ClinGen ExAC gnomAD
rs369686634 CA6930438	565	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA6930436 rs144651121	567	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1562314 CA6930434 COSM1562315 rs374335323	567	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs374335323 CA6930435	567	P>R		No	ClinGen ESP ExAC gnomAD
rs144651121 CA6930437	567	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1366234 rs745653714 COSM1366233 CA6930432	568	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA387664291 rs1156296747	569	E>K		No	ClinGen gnomAD
CA6930430 rs369656414	571	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA6930429 rs747004871	572	D>E		No	ClinGen ExAC gnomAD
CA387664267 rs1206561200	572	D>V		No	ClinGen TOPMed
CA387664250 rs1252866124	575	L>M		No	ClinGen TOPMed gnomAD
rs1565998975 CA387664223	579	V>F		No	ClinGen Ensembl
CA387664210 rs1489843641	581	K>E		No	ClinGen TOPMed gnomAD
rs1217156557 CA387664195	583	L>I		No	ClinGen gnomAD
rs766569666 CA6930423	587	V>I		No	ClinGen ExAC TOPMed gnomAD
CA6930422 rs553955549	590	I>F		No	ClinGen ExAC TOPMed gnomAD
rs553955549 CA387664145	590	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1019037553 CA247332205	592	L>P		No	ClinGen Ensembl
rs377395740 CA6930421	593	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774943336 CA6930418	593	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1140368 COSM550885 rs377395740 CA6930419	593	R>W	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs139586546 CA6930417	594	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1390619535 CA387664109	596	N>K		No	ClinGen TOPMed
rs950473882 CA247332155	597	N>S		No	ClinGen Ensembl
rs201226835 CA6930411	600	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6930412 rs776472661	600	M>T		No	ClinGen ExAC gnomAD
CA387664080 rs1230674118	601	H>N		No	ClinGen TOPMed
CA387664063 rs1302031800	603	S>G		No	ClinGen TOPMed
CA247332144 rs370849583	607	Q>P		No	ClinGen TOPMed gnomAD
CA247332145 rs370849583	607	Q>R		No	ClinGen TOPMed gnomAD
rs746809188 CA6930410	608	K>N		No	ClinGen ExAC TOPMed gnomAD
CA387664009 rs1194092324	610	A>S		No	ClinGen gnomAD
CA387664006 rs1277417641	610	A>V		No	ClinGen TOPMed
CA387664002 rs1479826426	611	I>N		No	ClinGen TOPMed
rs777644151 CA6930409	613	K>E		No	ClinGen ExAC gnomAD
rs1259431723 CA387663980	614	E>G		No	ClinGen gnomAD
rs758350700 CA6930408	615	H>D		No	ClinGen ExAC gnomAD
rs758350700 CA387663976	615	H>Y		No	ClinGen ExAC gnomAD
rs1022929239 CA247332093	617	I>V		No	ClinGen TOPMed
rs1268567063 CA387663955	618	T>N		No	ClinGen TOPMed
CA6930405 rs142425372	623	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767867469 CA6930403	623	I>S		No	ClinGen ExAC gnomAD
CA6930404 rs142425372	623	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752004457 CA6930401	624	M>I		No	ClinGen ExAC TOPMed gnomAD
rs757629765 CA6930402	624	M>V		No	ClinGen ExAC TOPMed gnomAD
CA6930400 rs764646845	625	N>K		No	ClinGen ExAC
rs1218599039 CA387663908	626	V>I		No	ClinGen gnomAD
rs778425164 CA247332051	627	S>C		No	ClinGen Ensembl
CA387663859 rs1170347355	633	T>I		No	ClinGen TOPMed
CA247332036 rs944499360	637	R>T		No	ClinGen TOPMed
CA387663813 rs1335482998	640	N>S		No	ClinGen gnomAD
rs1467823694 CA387663807	641	V>I		No	ClinGen gnomAD
CA6930395 rs776196434	642	Y>D		No	ClinGen ExAC TOPMed gnomAD
CA6930396 rs776196434	642	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA6930393 rs201670907	645	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770598745 CA6930394	645	E>K		No	ClinGen ExAC TOPMed gnomAD
rs773035381 CA6930392	648	L>F		No	ClinGen ExAC gnomAD
rs1424609470 CA387663759	649	Q>K		No	ClinGen gnomAD
rs1201829582 CA387663715	654	T>I		No	ClinGen gnomAD
rs1459175312 CA387663713	655	I>V		No	ClinGen gnomAD
rs748105326 CA6930390	656	R>*		No	ClinGen ExAC gnomAD
rs1365217052 CA387663701	657	D>N		No	ClinGen TOPMed
CA387663457 rs1163367875	658	Q>R		No	ClinGen gnomAD
CA247328447 rs906154661	660	A>T		No	ClinGen TOPMed gnomAD
rs1593730162 CA387663431	662	Y>S		No	ClinGen Ensembl
CA387663424 rs1418663249	663	L>F		No	ClinGen TOPMed
CA6930370 COSM1165707 rs745886558 COSM1165706	665	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6930369 rs767259336	665	R>Q		No	ClinGen ExAC gnomAD
CA6930367 rs747292637	667	L>F		No	ClinGen ExAC TOPMed gnomAD
CA6930366 rs115349395	670	H>D		No	ClinGen 1000Genomes ExAC gnomAD
rs137937570 CA6930365	673	A>T		No	ClinGen ESP ExAC TOPMed
rs753133916 CA6930364	673	A>V		No	ClinGen ExAC gnomAD
CA6930363 rs199945165	675	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA247328367 rs949111246	676	S>R		No	ClinGen Ensembl
rs755553562 CA6930362	677	S>F		No	ClinGen ExAC TOPMed gnomAD
CA387663324 rs1286345875	679	T>S		No	ClinGen TOPMed gnomAD
CA247328325 rs936568195	683	H>Q		No	ClinGen Ensembl
rs755754792 CA6930359	685	N>H		No	ClinGen ExAC
rs1222675285 CA387663283	685	N>S		No	ClinGen gnomAD
rs1347870989 CA387663269	687	V>A		No	ClinGen gnomAD
rs1347870989 CA387663270	687	V>D		No	ClinGen gnomAD
rs1284789634 CA387663273	687	V>I		No	ClinGen TOPMed
CA387663264 rs1233800511	688	P>H		No	ClinGen gnomAD
CA6930356 rs761475937	689	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1401670677 CA387663230	693	T>A		No	ClinGen gnomAD
CA247328302 rs76513207	695	F>L		No	ClinGen Ensembl
rs774219839 CA6930355	698	N>H		No	ClinGen ExAC gnomAD
rs763915530 CA6930354	699	H>D		No	ClinGen ExAC gnomAD
CA247328287 rs774284735	700	K>N		No	ClinGen Ensembl
CA387663161 rs1207257941	702	Q>R		No	ClinGen TOPMed
CA387662913 rs1384315156	710	G>A		No	ClinGen TOPMed gnomAD
rs1233164771 CA387662896	713	S>N		No	ClinGen TOPMed
rs780795250 CA6930303 COSM1706610	715	T>M	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6930304 rs780795250	715	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1436846368 CA387662870	717	F>S		No	ClinGen gnomAD
rs777295392 CA387662858	719	E>*		No	ClinGen ExAC TOPMed gnomAD
rs777295392 COSM1188686 CA6930300	719	E>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA387662841 rs1489431609	721	V>A		No	ClinGen TOPMed gnomAD
CA387662845 rs1393423729	721	V>I		No	ClinGen gnomAD
rs1269253138 CA387662798	727	G>D		No	ClinGen gnomAD
CA387662791 rs1221543350	728	V>A		No	ClinGen gnomAD
CA247313872 rs149011471	729	Y>F		No	ClinGen ESP TOPMed gnomAD
rs376925820 CA247313869	730	H>R		No	ClinGen Ensembl
rs138877243 CA6930297	731	C>Y		No	ClinGen ESP ExAC gnomAD
CA6930295 rs750461726	734	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1304970832 CA387662754	734	T>S		No	ClinGen gnomAD
CA247313846 rs896353265	736	Q>K		No	ClinGen Ensembl
CA387662734 rs1346764740	737	K>E		No	ClinGen gnomAD
rs1193193739 CA387662721	738	G>V		No	ClinGen TOPMed
rs767691469 CA6930294	739	S>F		No	ClinGen ExAC gnomAD
rs761815840 CA6930293	740	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1363301507 CA387662709	741	E>Q		No	ClinGen gnomAD
rs1299611940 CA387662701	742	S>G		No	ClinGen gnomAD
CA6930291 rs768899870	744	A>T		No	ClinGen ExAC gnomAD
CA387662681 rs1156319904	745	Y>D		No	ClinGen TOPMed gnomAD
rs1156319904 CA387662682	745	Y>H		No	ClinGen TOPMed gnomAD
CA6930290 rs763257474	749	Q>R		No	ClinGen ExAC gnomAD
rs115085855 CA6930278 COSM98906	752	S>L	stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs115085855 CA387662622	752	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753755092 CA6930276	753	D>N		No	ClinGen ExAC gnomAD
rs370222607 CA6930275	756	N>D		No	ClinGen ESP ExAC TOPMed
rs1593697386 CA387662596	756	N>I		No	ClinGen Ensembl
rs1415437434 CA387662573	760	I>F		No	ClinGen TOPMed
CA6930274 rs761917318	761	T>I		No	ClinGen ExAC gnomAD
rs775829545 CA6930270	767	V>M		No	ClinGen ExAC gnomAD
rs1468178679 CA387662523	768	A>S		No	ClinGen gnomAD
rs200840674 CA6930269	769	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA6930268 COSM946510 rs200840674	769	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1428124503 CA387662512	770	T>S		No	ClinGen gnomAD
CA6930266 rs532216455	771	L>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1279149819 CA387662508	771	L>V		No	ClinGen TOPMed gnomAD
rs1234107941 CA387662487 COSM696823	774	L>I	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs368259775 CA6930264	777	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1244106213 CA387662442	781	R>*		No	ClinGen TOPMed
rs553261958 COSM13323 VAR_042049 CA6930263	781	R>Q	large_intestine skin central_nervous_system a glioma low grade oligodendroglioma sample; somatic mutation haematopoietic_and_lymphoid_tissue breast [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD
rs1252249021 CA387662426	783	M>T		No	ClinGen gnomAD
rs1354440393 CA387662430	783	M>V		No	ClinGen TOPMed
CA387662421 rs1227218918	784	K>E		No	ClinGen gnomAD
rs376892605 CA6930262	784	K>R		No	ClinGen ESP ExAC TOPMed
CA387662223 rs1313714115	790	I>M		No	ClinGen gnomAD
CA6930251 rs759895887	790	I>T		No	ClinGen ExAC gnomAD
CA387662194 COSM1706608 rs1423880278	793	D>N	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
rs761149184 CA6930248	799	M>T		No	ClinGen ExAC gnomAD
rs772832908 CA6930247	800	D>E		No	ClinGen ExAC gnomAD
rs1304736848 CA387662074	801	P>T		No	ClinGen gnomAD
CA6930245 rs375033979	802	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA6930246 rs547368288	802	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774110655 CA6930244	805	P>L		No	ClinGen ExAC gnomAD
CA387662007 rs1361543766	806	L>W		No	ClinGen TOPMed
rs749090861 CA6930242	810	C>S		No	ClinGen ExAC gnomAD
rs1181644617 CA387661946	810	C>Y		No	ClinGen TOPMed gnomAD
rs374468544 CA6930239 COSM1322921	812	R>Q	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs368873174 CA6930240	812	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1223758635 CA387661908	813	L>F		No	ClinGen gnomAD
CA247326622 rs754623237	813	L>H		No	ClinGen Ensembl
rs1490404181 CA387661892	814	P>L		No	ClinGen gnomAD
rs781122609 CA6930238 COSM131725	814	P>S	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
CA247326611 rs565012505	815	Y>S		No	ClinGen 1000Genomes
CA247326576 rs867377831	816	D>N		No	ClinGen Ensembl
CA387661850 rs1355583274	817	A>V		No	ClinGen TOPMed
rs1214257658 CA387661840	818	S>R		No	ClinGen TOPMed
rs758430941 CA6930237	823	A>S		No	ClinGen ExAC gnomAD
rs765475765 CA6930235	824	R>Q		No	ClinGen ExAC gnomAD
rs751180218 CA247326569	824	R>W		No	ClinGen TOPMed
rs1284945816 CA387661773	828	K>T		No	ClinGen gnomAD
CA387661727 rs1264474796	833	L>R		No	ClinGen gnomAD
rs567933651 CA6930208	842	V>G		No	ClinGen 1000Genomes ExAC gnomAD
CA247322659 rs867180483	846	A>T		No	ClinGen Ensembl
CA387661628 rs1566291287	849	I>L		No	ClinGen Ensembl
rs767930948 COSM1579005 CA6930206	854	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs770523274 CA6930203	856	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6930204 rs368881360	856	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA247322649 rs79879948	860	V>G		No	ClinGen Ensembl
rs78147150 CA247322648	861	K>E		No	ClinGen Ensembl
CA6930184 rs766101235	866	G>R		No	ClinGen ExAC gnomAD
CA387661126 rs766101235	866	G>W		No	ClinGen ExAC gnomAD
rs1490896111 CA387661095	868	T>M		No	ClinGen gnomAD
CA387661084 rs1424677085	869	A>D		No	ClinGen TOPMed
rs1189698988 CA387661069	870	S>R		No	ClinGen TOPMed
CA387661042 rs1593685325	872	Y>C		No	ClinGen Ensembl
rs1033609075 CA247320231	873	K>E		No	ClinGen Ensembl
rs1319953709 CA387661010	874	A>V		No	ClinGen gnomAD
CA387660989 rs1278121302	876	M>I		No	ClinGen gnomAD
rs1373318575 CA387660990	876	M>K		No	ClinGen gnomAD
CA387660991 rs1373318575	876	M>T		No	ClinGen gnomAD
CA387660958 rs977370398	878	E>D		No	ClinGen TOPMed gnomAD
rs772071579 CA6930181	878	E>K		No	ClinGen ExAC gnomAD
rs199497877 CA247320227	883	T>I		No	ClinGen Ensembl
rs1303327476 CA387660904	885	I>T		No	ClinGen gnomAD
CA6930179 rs775682821	887	H>N		No	ClinGen ExAC gnomAD
rs770140431 CA6930178	889	L>M		No	ClinGen ExAC TOPMed gnomAD
COSM3360019 CA387660868 rs1593685255	891	V>M	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
CA6930175 rs757629826	901	Q>E		No	ClinGen ExAC gnomAD
rs1269363976 CA387660797	902	G>R		No	ClinGen gnomAD
CA247320181 rs953968689	903	G>R		No	ClinGen TOPMed gnomAD
CA387660537 rs1593683398	904	P>A		No	ClinGen Ensembl
CA387660498 rs1224354415	906	M>I		No	ClinGen gnomAD
CA6930155 rs778267260	906	M>V		No	ClinGen ExAC gnomAD
rs1593683384 CA387660476	907	V>G		No	ClinGen Ensembl
rs1262900671 CA387660453	909	V>A		No	ClinGen gnomAD
rs748627580 CA6930153	911	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1310044674 CA387660390	913	K>R		No	ClinGen gnomAD
rs779393208 CA6930152	916	N>S		No	ClinGen ExAC gnomAD
rs1566288079 CA387660314	923	S>N		No	ClinGen Ensembl
CA6930150 rs528058244	923	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs765997000 CA6930149	925	R>C		No	ClinGen ExAC gnomAD
rs1406799093 CA387660293	926	D>G		No	ClinGen gnomAD
rs755834751 CA6930148	929	F>V		No	ClinGen ExAC gnomAD
CA387660249 rs1171323708	932	K>R		No	ClinGen gnomAD
rs1159209071 COSM368575 CA387660136	933	D>N	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA387660094 rs1169810705	936	L>V		No	ClinGen TOPMed
rs1429337906 CA387660079	937	H>R		No	ClinGen gnomAD
CA247317167 rs371852035	937	H>Y		No	ClinGen ESP
RCV000958668 CA6930139 VAR_042050 rs35549791	938	M>V		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA387660034 rs372346426	940	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA6930138 rs372346426	940	P>T		No	ClinGen 1000Genomes ExAC gnomAD
rs148112461 CA387659993	943	E>*		No	ClinGen gnomAD
rs367615542 CA387659990	943	E>A		No	ClinGen ESP TOPMed gnomAD
rs1291565103 CA387659986	943	E>D		No	ClinGen TOPMed
rs148112461 COSM107683 CA247317164	943	E>K	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs367615542 CA247317160	943	E>V		No	ClinGen ESP TOPMed gnomAD
rs1445273119 CA387659974	944	K>R		No	ClinGen gnomAD
CA6930137 rs41291686	946	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6930136 rs772408991	947	P>L		No	ClinGen ExAC gnomAD
CA6930135 rs748540253	948	G>S		No	ClinGen ExAC TOPMed gnomAD
CA6930132 rs748767534	951	Q>E		No	ClinGen ExAC gnomAD
CA6930133 rs748767534	951	Q>K		No	ClinGen ExAC gnomAD
rs1279583788 CA387659878	952	G>S		No	ClinGen TOPMed
CA247317144 rs769777580	956	R>K		No	ClinGen TOPMed gnomAD
rs191324219 CA6930131	956	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1242507669 CA387659838	958	D>N		No	ClinGen gnomAD
rs780713077 CA6930129	959	S>G		No	ClinGen ExAC gnomAD
CA387659825 rs554058758	960	V>F		No	ClinGen ExAC TOPMed gnomAD
CA6930127 COSM1366224 rs554058758	960	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA387659820 rs1305136925	961	T>P		No	ClinGen gnomAD
CA6930124 rs753953796	964	E>K		No	ClinGen ExAC TOPMed gnomAD
rs866974502 CA387659787	965	S>I		No	ClinGen gnomAD
rs866974502 CA247317105	965	S>N		No	ClinGen gnomAD
rs371199947 CA387659772	967	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA6930123 rs371199947	967	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs773439972 CA6930122	969	S>F		No	ClinGen ExAC gnomAD
rs1033990749 CA247317082	970	G>S		No	ClinGen TOPMed gnomAD
CA387659733 rs1207606794	971	F>V		No	ClinGen gnomAD
rs1352720154 CA387659689	973	E>D		No	ClinGen gnomAD
CA247317080 rs868166954	973	E>K		No	ClinGen Ensembl
rs774739621 CA6930119	974	D>N		No	ClinGen ExAC gnomAD
rs774739621 CA387659685	974	D>Y		No	ClinGen ExAC gnomAD
CA6930118 rs139188790	977	L>P		No	ClinGen ESP ExAC gnomAD
rs200622656 CA6930117	979	D>E		No	ClinGen ExAC TOPMed gnomAD
CA6930116 rs116741209	980	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA387659595 rs1405778024	981	E>A		No	ClinGen gnomAD
VAR_042051 rs35832528 CA6930115	982	E>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs757344268 CA6930082	986	S>F		No	ClinGen ExAC gnomAD
rs149241190 CA6930079	988	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs376257265 CA387658965	988	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6930080 rs376257265	988	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA247316789 rs945910269	995	T>A		No	ClinGen TOPMed gnomAD
rs765746332 CA6930077	995	T>I		No	ClinGen ExAC gnomAD
rs1315826086 CA387658780	1001	S>C		No	ClinGen gnomAD
CA6930075 rs777206290	1001	S>T		No	ClinGen ExAC gnomAD
CA6930072 rs202214802	1008	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747942952 CA6930070	1014	S>F		No	ClinGen ExAC gnomAD
CA247316764 rs930705401	1017	K>E		No	ClinGen Ensembl
COSM1677577 rs774068355 CA6930052	1018	C>Y	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs749139820 CA6930050	1019	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1156761371 CA387658509	1020	H>Y		No	ClinGen gnomAD
CA387658479 rs1377450424	1021	R>Q		No	ClinGen gnomAD
rs779922420 CA6930049	1023	L>R		No	ClinGen ExAC
rs747063979 CA6930047	1025	A>V		No	ClinGen ExAC gnomAD
CA6930044 rs752792142	1031	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1417918521 CA387658298	1033	N>I		No	ClinGen gnomAD
rs377691426 CA387658270	1034	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6930041 rs754303774	1035	V>M		No	ClinGen ExAC TOPMed gnomAD
CA6930038 rs139361304	1045	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA387658089 rs1475572191	1045	R>W		No	ClinGen TOPMed gnomAD
CA6930036 rs761392227	1046	D>N		No	ClinGen ExAC TOPMed gnomAD
rs773836094 CA6930035	1047	I>T		No	ClinGen ExAC gnomAD
CA6930034 rs768377172	1048	Y>C		No	ClinGen ExAC gnomAD
rs1318264029 CA387657979	1051	P>A		No	ClinGen gnomAD
rs1175540976 CA387657954	1052	D>G		No	ClinGen gnomAD
COSM1718896 rs374177896 CA6930032	1052	D>N	NS [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1431724872 CA387657930	1054	V>M		No	ClinGen gnomAD
CA387657877 rs1189350948	1056	K>R		No	ClinGen gnomAD
COSM3417504 CA6930006 COSM3417503 rs374452662	1060	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA387657254 rs753623232	1060	R>L		No	ClinGen ExAC TOPMed gnomAD
CA6930005 rs753623232	1060	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs756508162 CA6930004	1062	P>A		No	ClinGen ExAC gnomAD
rs1227050497 CA387657203	1065	W>*		No	ClinGen TOPMed
CA6930003 rs746258303	1066	M>I		No	ClinGen ExAC gnomAD
CA387657169 rs1271828292	1067	A>V		No	ClinGen gnomAD
rs751031012 CA6930001	1069	E>K		No	ClinGen ExAC gnomAD
CA247314987 rs371968008	1070	S>C		No	ClinGen ESP TOPMed
CA247314983 rs1005947052	1071	I>V		No	ClinGen Ensembl
rs763721245 CA6930000	1072	F>L		No	ClinGen ExAC gnomAD
rs200028208 CA247314980	1073	D>G		No	ClinGen 1000Genomes
rs1288824122 CA387657097	1074	K>Q		No	ClinGen gnomAD
CA387657091 rs1409426262	1074	K>R		No	ClinGen gnomAD
CA387657083 rs1246465391	1075	I>V		No	ClinGen TOPMed
CA387657066 rs1325577961	1076	Y>C		No	ClinGen gnomAD
rs200720678 CA247314968	1077	S>R		No	ClinGen 1000Genomes
CA247314964 rs895427992	1078	T>A		No	ClinGen TOPMed gnomAD
CA387657034 rs1390141287	1079	K>E		No	ClinGen gnomAD
COSM131726 CA247314963 rs867241812	1081	D>N	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA387656994 rs142586121	1082	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1562317 rs142586121 CA6929995	1082	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA6929994 rs766221133	1083	W>R		No	ClinGen ExAC gnomAD
rs752645756 CA6929992	1086	G>R		No	ClinGen ExAC gnomAD
COSM1578986 rs768790905 CA6929991	1087	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs373615531 CA247313695	1097	G>R		No	ClinGen ESP TOPMed
rs1299569579 CA387656270	1103	V>A		No	ClinGen TOPMed
CA6929959 rs779606481	1103	V>I		No	ClinGen ExAC gnomAD
CA6929960 rs779606481	1103	V>L		No	ClinGen ExAC gnomAD
CA387656264 rs1171402402	1104	Q>R		No	ClinGen gnomAD
CA6929958 rs755891274	1105	M>T		No	ClinGen ExAC gnomAD
CA6929957 rs750234866	1106	D>N		No	ClinGen ExAC gnomAD
rs369434906 CA6929955	1108	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs767531842 CA6929956	1108	D>N		No	ClinGen ExAC gnomAD
rs767531842 CA247313687	1108	D>Y		No	ClinGen ExAC gnomAD
CA387656228 rs1238963201	1109	F>S		No	ClinGen gnomAD
rs730882263 CA6929953	1110	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs143726778 CA6929952	1112	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA387656210 rs1441660026	1112	R>S		No	ClinGen gnomAD
rs776861138 CA6929951	1115	E>K		No	ClinGen ExAC gnomAD
CA6929950 rs774347267	1117	M>I		No	ClinGen ExAC gnomAD
rs774347267 CA247313676	1117	M>I		No	ClinGen ExAC gnomAD
rs61731345 CA6929948	1123	E>K		No	ClinGen ExAC TOPMed gnomAD
rs772553775 CA6929947	1124	Y>H		No	ClinGen ExAC gnomAD
rs200804718 CA6929946	1125	S>A		No	ClinGen 1000Genomes ExAC gnomAD
CA247313668 rs1049797328	1126	T>A		No	ClinGen gnomAD
rs1447710182 CA387656115	1126	T>I		No	ClinGen gnomAD
rs371347149 CA6929945	1127	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1310641415 CA387656097	1129	I>T		No	ClinGen gnomAD
CA6929932 rs760860711	1131	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs773436133 CA6929931	1132	I>V		No	ClinGen ExAC gnomAD
CA247312147 rs756256507	1133	M>V		No	ClinGen TOPMed
CA247312146 rs139434208	1135	D>G		No	ClinGen Ensembl
rs762195216 CA6929929	1138	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA6929930 rs767803039	1138	H>R		No	ClinGen ExAC gnomAD
CA387655398 rs1161165810	1139	R>G		No	ClinGen gnomAD
CA6929927 rs538506425	1140	D>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1370196446 CA387655367	1141	P>S		No	ClinGen TOPMed
rs971646396 CA247312132	1148	A>V		No	ClinGen Ensembl
CA247312128 rs954489468	1152	E>K		No	ClinGen TOPMed
rs573870646 CA247312124	1157	L>F		No	ClinGen ExAC gnomAD
CA6929923 rs573870646	1157	L>F		No	ClinGen ExAC gnomAD
CA6929922 rs148958662	1160	A>E		No	ClinGen ESP ExAC gnomAD
rs561880240 CA247312118	1161	N>K		No	ClinGen gnomAD
CA387655108 rs1207529287	1162	V>A		No	ClinGen TOPMed
rs145693340 CA6929920	1163	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777732747 CA6929919	1164	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs757545042 CA6929894	1168	D>V		No	ClinGen ExAC
CA387655054 rs1566279635	1168	D>Y		No	ClinGen Ensembl
rs1385793865 CA387655047	1169	Y>H		No	ClinGen gnomAD
rs751909538 CA6929893	1170	I>M		No	ClinGen ExAC gnomAD
CA387655021 rs1206658932	1173	N>D		No	ClinGen TOPMed
rs1260733910 CA387655004	1175	I>T		No	ClinGen TOPMed
rs1432876753 CA387654986	1178	G>E		No	ClinGen gnomAD
rs764310611 CA6929892	1180	S>G		No	ClinGen ExAC gnomAD
rs138652408 CA247311991	1180	S>R		No	ClinGen Ensembl
rs1189128422 CA387654949	1184	Y>H		No	ClinGen TOPMed
CA387654923 rs1164854890	1188	A>S		No	ClinGen TOPMed
CA247311983 rs933012783	1188	A>V		No	ClinGen TOPMed
CA387654915 rs1260058846	1189	F>S		No	ClinGen gnomAD
rs765799505 CA6929889	1190	S>P		No	ClinGen ExAC gnomAD
rs1256173877 CA387654897	1192	D>Y		No	ClinGen gnomAD
CA247311977 rs539518963	1193	F>Y		No	ClinGen Ensembl
CA6929888 rs759083224	1195	K>R		No	ClinGen ExAC gnomAD
CA387654859 rs776343811	1197	S>C		No	ClinGen ExAC TOPMed gnomAD
CA6929887 rs776343811	1197	S>G		No	ClinGen ExAC TOPMed gnomAD
rs770692157 CA6929886	1200	A>T		No	ClinGen ExAC gnomAD
rs764087668 CA6929885	1200	A>V		No	ClinGen ExAC TOPMed gnomAD
RCV000885710 rs140861115 CA6929884	1201	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs778692239 CA6929881	1203	F>L		No	ClinGen ExAC gnomAD
CA387654823 rs1397505898	1203	F>V		No	ClinGen gnomAD
CA6929882 rs747998054	1203	F>Y		No	ClinGen ExAC gnomAD
rs1413238357 CA387654813	1204	N>S		No	ClinGen gnomAD
rs1336358383 CA387654803	1206	G>R		No	ClinGen TOPMed
CA6929880 rs768621630	1207	S>G		No	ClinGen ExAC
CA387654793 rs1593669536	1207	S>N		No	ClinGen Ensembl
CA387654786 rs1414307870	1208	S>C		No	ClinGen TOPMed
rs745943243 CA387654776	1210	D>N		No	ClinGen ExAC gnomAD
rs745943243 CA6929879	1210	D>Y		No	ClinGen ExAC gnomAD
CA6929878 rs781308526	1211	V>I		No	ClinGen ExAC TOPMed gnomAD
CA6929877 rs751669180	1212	R>K		No	ClinGen ExAC gnomAD
CA387654329 rs1035738787	1212	R>S		No	ClinGen Ensembl
CA6929876 rs751669180	1212	R>T		No	ClinGen ExAC gnomAD
CA6929856 rs758710745	1214	V>I		No	ClinGen ExAC TOPMed gnomAD
CA387654249 rs967383568	1218	K>N		No	ClinGen gnomAD
rs1327465727 CA387654238	1219	F>C		No	ClinGen gnomAD
rs779359571 CA6929854	1221	S>R		No	ClinGen ExAC gnomAD
rs779359571 CA6929853	1221	S>R		No	ClinGen ExAC gnomAD
rs1231182408 CA387654193	1222	L>V		No	ClinGen gnomAD
rs370986273 CA387654162	1224	R>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6929851 rs370986273	1224	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1238611113 CA387654115	1227	T>I		No	ClinGen gnomAD
CA6929850 rs767014384	1231	L>P		No	ClinGen ExAC gnomAD
CA6929849 rs115595062	1233	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs867799392 CA247311114	1235	A>V		No	ClinGen Ensembl
CA387654047 rs1394450684	1236	T>I		No	ClinGen gnomAD
rs1389843573 CA387654034	1238	M>I		No	ClinGen gnomAD
CA387654037 rs1459098012	1238	M>T		No	ClinGen gnomAD
CA6929847 rs767072926	1238	M>V		No	ClinGen ExAC gnomAD
CA387654001 rs1593665673	1241	D>A		No	ClinGen Ensembl
CA387653998 rs1477192335	1241	D>E		No	ClinGen gnomAD
CA387653977 rs1315888360	1244	G>D		No	ClinGen TOPMed
CA387653980 rs1347233032	1244	G>S		No	ClinGen gnomAD
rs372046832 CA387653974	1245	D>H		No	ClinGen ESP TOPMed gnomAD
COSM3399322 rs372046832 CA247310334 COSM3399321	1245	D>N	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
rs1343547520 CA387653966	1246	S>G		No	ClinGen gnomAD
rs772147309 CA6929818	1247	S>G		No	ClinGen ExAC gnomAD
CA387653956 rs1566277202	1247	S>T		No	ClinGen Ensembl
CA247310329 rs977895734	1248	T>I		No	ClinGen TOPMed
CA387653932 COSM550893 rs1342649833	1251	A>D	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA387653924 rs1415091072	1252	S>F		No	ClinGen TOPMed gnomAD
rs1207268449 CA387653928	1252	S>P		No	ClinGen TOPMed
CA387653926 rs1415091072	1252	S>Y		No	ClinGen TOPMed gnomAD
CA387653922 rs1374309758	1253	P>A		No	ClinGen gnomAD
rs769040117 CA6929815	1253	P>R		No	ClinGen ExAC
rs1420097435 CA387653914	1254	M>R		No	ClinGen gnomAD
CA6929813 rs780624447	1254	M>V		No	ClinGen ExAC gnomAD
rs199599880 CA6929812	1257	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs746322044 COSM1207254 CA6929811	1257	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA387653889 rs1380855243	1258	F>S		No	ClinGen TOPMed
rs1200181362 CA387653882	1259	T>N		No	ClinGen gnomAD
CA387653869 rs1471081750	1261	T>A		No	ClinGen TOPMed
CA387653857 rs1156625069	1262	D>E		No	ClinGen TOPMed
CA6929807 rs201402962	1267	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA387653824 rs1255447242	1267	A>S		No	ClinGen gnomAD
COSM2070321 COSM3468100 CA6929805 rs368266056	1268	S>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs139333864 CA6929803	1269	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA6929802 rs753757304	1271	I>V		No	ClinGen ExAC gnomAD
CA387653797 rs1241747838	1272	D>N		No	ClinGen TOPMed
rs1419959680 CA387653619	1273	L>V		No	ClinGen gnomAD
rs1407323457 CA387653616	1273	L>W		No	ClinGen gnomAD
rs763158497 CA6929777	1274	R>K		No	ClinGen ExAC TOPMed gnomAD
CA6929776 rs775734015	1276	T>A		No	ClinGen ExAC TOPMed gnomAD
CA6929775 rs765429388	1277	S>N		No	ClinGen ExAC TOPMed gnomAD
rs759916470 CA6929774	1279	S>G		No	ClinGen ExAC TOPMed gnomAD
CA387653576 rs776931378	1279	S>I		No	ClinGen ExAC gnomAD
CA6929773 rs776931378	1279	S>T		No	ClinGen ExAC gnomAD
CA387653572 rs1217461790	1280	K>E		No	ClinGen TOPMed gnomAD
rs771418477 CA6929771	1281	E>G		No	ClinGen ExAC
rs773736576 CA6929769	1282	S>L		No	ClinGen ExAC gnomAD
CA387653550 rs1438716807	1283	G>E		No	ClinGen gnomAD
CA387653545 rs1440154631	1284	L>P		No	ClinGen gnomAD
CA6929765 rs185016302	1285	S>C		No	ClinGen 1000Genomes ExAC
CA387653535 rs1368509935	1286	D>N		No	ClinGen gnomAD
CA387653505 rs1566275328	1290	P>H		No	ClinGen Ensembl
rs779656107 CA6929763	1294	H>P		No	ClinGen ExAC gnomAD
COSM4152738 COSM4152737 rs569994552 CA6929762	1298	G>R	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs750346448 CA6929761 COSM1366219	1300	V>I	large_intestine prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM184497 CA6929759 rs758531658	1302	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6929758 rs752763228	1303	G>D		No	ClinGen ExAC gnomAD
CA6929757 rs765496325	1305	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6929756 rs759739030	1305	R>H		No	ClinGen ExAC gnomAD
CA387653399 rs1485765345	1306	R>G		No	ClinGen gnomAD
CA387653393 rs1241092161	1306	R>S		No	ClinGen TOPMed gnomAD
CA6929755 rs776912246	1308	T>I		No	ClinGen ExAC gnomAD
rs776912246 CA247308947	1308	T>S		No	ClinGen ExAC gnomAD
CA6929754 rs747352728	1309	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA387653373 rs991429591	1310	D>H		No	ClinGen TOPMed gnomAD
CA247308941 rs991429591	1310	D>N		No	ClinGen TOPMed gnomAD
rs1233434084 CA387653364	1311	H>Y		No	ClinGen gnomAD
CA6929751 rs747687298	1312	A>S		No	ClinGen ExAC TOPMed gnomAD
CA6929750 rs747687298	1312	A>T		No	ClinGen ExAC TOPMed gnomAD
rs768225561 CA6929748	1313	E>K		No	ClinGen ExAC gnomAD
CA387653347 rs1287269815	1314	L>M		No	ClinGen gnomAD
CA6929747 rs748825172	1315	E>K		No	ClinGen ExAC gnomAD
rs779884235 CA6929746	1318	I>T		No	ClinGen ExAC gnomAD
rs1376117684 CA387653319	1318	I>V		No	ClinGen gnomAD
CA6929743 rs199779462	1319	A>E		No	ClinGen ExAC TOPMed gnomAD
COSM298675 CA387653313 rs1392528455	1319	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs199779462 CA6929744	1319	A>V		No	ClinGen ExAC TOPMed gnomAD
CA387653290 rs1411750922	1322	S>F		No	ClinGen TOPMed
rs778804579 CA6929740	1322	S>P		No	ClinGen ExAC gnomAD
rs536239359 CA6929738	1323	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs536239359 CA6929739	1323	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1445963260 CA387653280	1324	P>L		No	ClinGen gnomAD
CA6929736 rs760994884	1325	P>R		No	ClinGen ExAC gnomAD
rs772567599 CA247308914	1325	P>S		No	ClinGen Ensembl
rs1484421415 CA387653263	1327	Y>C		No	ClinGen gnomAD
rs1007800627 CA247308909	1327	Y>H		No	ClinGen TOPMed gnomAD
CA6929735 rs750851829	1329	S>L		No	ClinGen ExAC gnomAD
rs774926119 CA6929732	1331	V>I		No	ClinGen ExAC TOPMed gnomAD
rs779621892 CA247308897	1332	L>M		No	ClinGen gnomAD
CA387653227 rs1312534882	1333	Y>*		No	ClinGen gnomAD
CA6929731 rs768011705	1333	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1162187432 CA387653215	1335	T>I		No	ClinGen Ensembl
rs1412942697 CA387653210	1336	P>Q		No	ClinGen gnomAD
CA387653190 rs1468536790	1339	I>W		No	ClinGen TOPMed

2 associated diseases with P17948

Without disease ID

6 regional properties for P17948

Type	Name	Position	InterPro Accession
domain	Zinc finger, RING-type	350 - 389	IPR001841
domain	Adaptor protein Cbl, N-terminal helical	14 - 144	IPR003153
domain	Adaptor protein Cbl, EF hand-like	148 - 231	IPR014741
domain	Adaptor protein Cbl, SH2-like domain	225 - 321	IPR014742
conserved_site	Zinc finger, RING-type, conserved site	365 - 374	IPR017907
domain	Adaptor protein Cbl, PTB domain	7 - 320	IPR024159

Functions

		Description
EC Number	2.7.10.1	Protein-tyrosine kinases
Subcellular Localization	[Isoform 1]: Cell membrane; Single-pass type I membrane protein Endosome	Autophosphorylation promotes ubiquitination and endocytosis
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
actin cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
endosome	A vacuole to which materials ingested by endocytosis are delivered.
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
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.

6 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
growth factor binding	Binding to a growth factor, proteins or polypeptides that stimulate a cell or organism to grow or proliferate.
placental growth factor-activated receptor activity	Combining with placental growth factor (PlGF) receptor ligand and transmitting the signal across the plasma membrane to initiate a change in cell activity.
protein serine/threonine/tyrosine kinase activity	Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
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: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate.
vascular endothelial growth factor-activated receptor activity	Combining with a vascular endothelial growth factor (VEGF) receptor ligand and transmitting the signal across the plasma membrane to initiate a change in cell activity.

23 GO annotations of biological process

Name	Definition
angiogenesis	Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
blood vessel morphogenesis	The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood.
cell migration	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
cellular response to vascular endothelial growth factor stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vascular endothelial growth factor stimulus.
embryonic morphogenesis	The process in which anatomical structures are generated and organized during the embryonic phase. The embryonic phase begins with zygote formation. The end of the embryonic phase is organism-specific. For example, it would be at birth for mammals, larval hatching for insects and seed dormancy in plants.
hematopoietic progenitor cell differentiation	The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells.
hyaloid vascular plexus regression	The developmental process in which the hyaloid vascular plexus is destroyed as a part of its normal progression.
monocyte chemotaxis	The movement of a monocyte in response to an external stimulus.
negative regulation of vascular endothelial cell proliferation	Any process that stops, prevents or reduces the frequency, rate or extent of vascular endothelial cell proliferation.
peptidyl-tyrosine phosphorylation	The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine.
positive regulation of angiogenesis	Any process that activates or increases angiogenesis.
positive regulation of cell migration	Any process that activates or increases the frequency, rate or extent of cell migration.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of kinase activity	Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.
positive regulation of MAP kinase activity	Any process that activates or increases the frequency, rate or extent of MAP kinase activity.
positive regulation of MAPK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of phosphatidylinositol 3-kinase activity	Any process that activates or increases the frequency, rate or extent of phosphatidylinositol 3-kinase activity.
positive regulation of phosphatidylinositol 3-kinase signaling	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade.
positive regulation of phospholipase C activity	Any process that increases the rate of phospholipase C activity.
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).
transmembrane receptor protein tyrosine kinase signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.
vascular endothelial growth factor receptor signaling pathway	The series of molecular signals initiated by a ligand binding to a vascular endothelial growth factor receptor (VEGFR) on the surface of the target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
vascular endothelial growth factor receptor-1 signaling pathway	The series of molecular signals initiated by a ligand binding to a vascular endothelial growth factor receptor-1 (VEGFR-1) on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.

96 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P43481	KIT	Mast/stem cell growth factor receptor Kit	Bos taurus (Bovine)	SS
Q06805	TIE1	Tyrosine-protein kinase receptor Tie-1	Bos taurus (Bovine)	PR
Q06807	TEK	Angiopoietin-1 receptor	Bos taurus (Bovine)	SS
Q28889	KIT	Mast/stem cell growth factor receptor Kit	Felis catus (Cat) (Felis silvestris catus)	SS
P13369	CSF1R	Macrophage colony-stimulating factor 1 receptor	Felis catus (Cat) (Felis silvestris catus)	SS
P18460	FGFR3	Fibroblast growth factor receptor 3	Gallus gallus (Chicken)	SS
P21804	FGFR1	Fibroblast growth factor receptor 1	Gallus gallus (Chicken)	SS
Q9PUF6	PDGFRA	Platelet-derived growth factor receptor alpha	Gallus gallus (Chicken)	SS
Q08156	KIT	Mast/stem cell growth factor receptor Kit	Gallus gallus (Chicken)	SS
P18461	FGFR2	Fibroblast growth factor receptor 2	Gallus gallus (Chicken)	SS
Q8QHL3	FLT1	Vascular endothelial growth factor receptor 1	Gallus gallus (Chicken)	SS
Q07407	htl	Fibroblast growth factor receptor homolog 1	Drosophila melanogaster (Fruit fly)	PR
Q6J9G0	STYK1	Tyrosine-protein kinase STYK1	Homo sapiens (Human)	PR
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
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
P54760	EPHB4	Ephrin type-B receptor 4	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
Q03142	Fgfr4	Fibroblast growth factor receptor 4	Mus musculus (Mouse)	PR
P05532	Kit	Mast/stem cell growth factor receptor Kit	Mus musculus (Mouse)	PR
Q91V87	Fgfrl1	Fibroblast growth factor receptor-like 1	Mus musculus (Mouse)	PR
P35917	Flt4	Vascular endothelial growth factor receptor 3	Mus musculus (Mouse)	SS
P05622	Pdgfrb	Platelet-derived growth factor receptor beta	Mus musculus (Mouse)	SS
P09581	Csf1r	Macrophage colony-stimulating factor 1 receptor	Mus musculus (Mouse)	SS
P35546	Ret	Proto-oncogene tyrosine-protein kinase receptor Ret	Mus musculus (Mouse)	SS
Q06806	Tie1	Tyrosine-protein kinase receptor Tie-1	Mus musculus (Mouse)	SS
Q00342	Flt3	Receptor-type tyrosine-protein kinase FLT3	Mus musculus (Mouse)	SS
Q6J9G1	Styk1	Tyrosine-protein kinase STYK1	Mus musculus (Mouse)	PR
P16092	Fgfr1	Fibroblast growth factor receptor 1	Mus musculus (Mouse)	SS
Q61851	Fgfr3	Fibroblast growth factor receptor 3	Mus musculus (Mouse)	PR
Q02858	Tek	Angiopoietin-1 receptor	Mus musculus (Mouse)	SS
P35918	Kdr	Vascular endothelial growth factor receptor 2	Mus musculus (Mouse)	PR
P21803	Fgfr2	Fibroblast growth factor receptor 2	Mus musculus (Mouse)	SS
P26618	Pdgfra	Platelet-derived growth factor receptor alpha	Mus musculus (Mouse)	SS
P35969	Flt1	Vascular endothelial growth factor receptor 1	Mus musculus (Mouse)	SS
Q2HWD6	KIT	Mast/stem cell growth factor receptor Kit	Sus scrofa (Pig)	SS
Q7TQM3	Fgfrl1	Fibroblast growth factor receptor-like 1	Rattus norvegicus (Rat)	PR
P20786	Pdgfra	Platelet-derived growth factor receptor alpha	Rattus norvegicus (Rat)	SS
Q91ZT1	Flt4	Vascular endothelial growth factor receptor 3	Rattus norvegicus (Rat)	SS
Q04589	Fgfr1	Fibroblast growth factor receptor 1	Rattus norvegicus (Rat)	SS
G3V9H8	Ret	Proto-oncogene tyrosine-protein kinase receptor Ret	Rattus norvegicus (Rat)	SS
Q498D6	Fgfr4	Fibroblast growth factor receptor 4	Rattus norvegicus (Rat)	PR
Q05030	Pdgfrb	Platelet-derived growth factor receptor beta	Rattus norvegicus (Rat)	SS
O08775	Kdr	Vascular endothelial growth factor receptor 2	Rattus norvegicus (Rat)	SS
P53767	Flt1	Vascular endothelial growth factor receptor 1	Rattus norvegicus (Rat)	PR
Q17833	old-1	Tyrosine-protein kinase receptor old-1	Caenorhabditis elegans	PR
Q19238	F09A5.2	Putative tyrosine-protein kinase F09A5.2	Caenorhabditis elegans	SS
Q10656	egl-15	Myoblast growth factor receptor egl-15	Caenorhabditis elegans	PR
P34892	kin-16	Receptor-like tyrosine-protein kinase kin-16	Caenorhabditis elegans	PR
G5ED65	ver-1	Protein ver-1	Caenorhabditis elegans	PR
Q8AXB3	kdrl	Vascular endothelial growth factor receptor kdr-like	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q5GIT4	kdr	Vascular endothelial growth factor receptor 2	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
O73791	tek	Angiopoietin-1 receptor	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q90Z00	fgfr1a	Fibroblast growth factor receptor 1-A	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q8JG38	fgfr2	Fibroblast growth factor receptor 2	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q9I8N6	csf1r	Macrophage colony-stimulating factor 1 receptor	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q90413	fgfr4	Fibroblast growth factor receptor 4	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q9DE49	pdgfra	Platelet-derived growth factor receptor alpha	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q8JFR5	kita	Mast/stem cell growth factor receptor kita	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q5MD89	flt4	Vascular endothelial growth factor receptor 3	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MVSYWDTGVL	LCALLSCLLL	TGSSSGSKLK	DPELSLKGTQ	HIMQAGQTLH	LQCRGEAAHK
70	80	90	100	110	120
WSLPEMVSKE	SERLSITKSA	CGRNGKQFCS	TLTLNTAQAN	HTGFYSCKYL	AVPTSKKKET
130	140	150	160	170	180
ESAIYIFISD	TGRPFVEMYS	EIPEIIHMTE	GRELVIPCRV	TSPNITVTLK	KFPLDTLIPD
190	200	210	220	230	240
GKRIIWDSRK	GFIISNATYK	EIGLLTCEAT	VNGHLYKTNY	LTHRQTNTII	DVQISTPRPV
250	260	270	280	290	300
KLLRGHTLVL	NCTATTPLNT	RVQMTWSYPD	EKNKRASVRR	RIDQSNSHAN	IFYSVLTIDK
310	320	330	340	350	360
MQNKDKGLYT	CRVRSGPSFK	SVNTSVHIYD	KAFITVKHRK	QQVLETVAGK	RSYRLSMKVK
370	380	390	400	410	420
AFPSPEVVWL	KDGLPATEKS	ARYLTRGYSL	IIKDVTEEDA	GNYTILLSIK	QSNVFKNLTA
430	440	450	460	470	480
TLIVNVKPQI	YEKAVSSFPD	PALYPLGSRQ	ILTCTAYGIP	QPTIKWFWHP	CNHNHSEARC
490	500	510	520	530	540
DFCSNNEESF	ILDADSNMGN	RIESITQRMA	IIEGKNKMAS	TLVVADSRIS	GIYICIASNK
550	560	570	580	590	600
VGTVGRNISF	YITDVPNGFH	VNLEKMPTEG	EDLKLSCTVN	KFLYRDVTWI	LLRTVNNRTM
610	620	630	640	650	660
HYSISKQKMA	ITKEHSITLN	LTIMNVSLQD	SGTYACRARN	VYTGEEILQK	KEITIRDQEA
670	680	690	700	710	720
PYLLRNLSDH	TVAISSSTTL	DCHANGVPEP	QITWFKNNHK	IQQEPGIILG	PGSSTLFIER
730	740	750	760	770	780
VTEEDEGVYH	CKATNQKGSV	ESSAYLTVQG	TSDKSNLELI	TLTCTCVAAT	LFWLLLTLFI
790	800	810	820	830	840
RKMKRSSSEI	KTDYLSIIMD	PDEVPLDEQC	ERLPYDASKW	EFARERLKLG	KSLGRGAFGK
850	860	870	880	890	900
VVQASAFGIK	KSPTCRTVAV	KMLKEGATAS	EYKALMTELK	ILTHIGHHLN	VVNLLGACTK
910	920	930	940	950	960
QGGPLMVIVE	YCKYGNLSNY	LKSKRDLFFL	NKDAALHMEP	KKEKMEPGLE	QGKKPRLDSV
970	980	990	1000	1010	1020
TSSESFASSG	FQEDKSLSDV	EEEEDSDGFY	KEPITMEDLI	SYSFQVARGM	EFLSSRKCIH
1030	1040	1050	1060	1070	1080
RDLAARNILL	SENNVVKICD	FGLARDIYKN	PDYVRKGDTR	LPLKWMAPES	IFDKIYSTKS
1090	1100	1110	1120	1130	1140
DVWSYGVLLW	EIFSLGGSPY	PGVQMDEDFC	SRLREGMRMR	APEYSTPEIY	QIMLDCWHRD
1150	1160	1170	1180	1190	1200
PKERPRFAEL	VEKLGDLLQA	NVQQDGKDYI	PINAILTGNS	GFTYSTPAFS	EDFFKESISA
1210	1220	1230	1240	1250	1260
PKFNSGSSDD	VRYVNAFKFM	SLERIKTFEE	LLPNATSMFD	DYQGDSSTLL	ASPMLKRFTW
1270	1280	1290	1300	1310	1320
TDSKPKASLK	IDLRVTSKSK	ESGLSDVSRP	SFCHSSCGHV	SEGKRRFTYD	HAELERKIAC
1330
CSPPPDYNSV	VLYSTPPI