AiPD: Autoinhibited Protein Database

P35968

Gene name	KDR
Protein name	Vascular endothelial growth factor receptor 2
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3791
EC number	2.7.10.1: Protein-tyrosine kinases
Protein Class	TYROSINE-PROTEIN KINASE RECEPTOR (PTHR24416)

Descriptions

The vascular endothelial growth factors (VEGFs) and their receptors (VEGFRs) play crucial roles in vasculogenesis and angiogenesis. The unphosphorylated juxtamembrane region of VEGFR2 autoinhibits kinase activity by interacting with the activation loop in the kinase domain. Like other receptor tyrosine kinases, VEGFRs may have other autoinhibitory regions.

Autoinhibitory domains (AIDs)

Target domain	834-1162 (Protein kinase domain)
Relief mechanism	PTM
Assay	Mutagenesis experiment

AID

790-833 (Juxtamembrane region)

Target domain

834-1162 (Protein kinase domain)

Relief mechanism

PTM (Phosphorylation of juxtamembrane region)

Assay

Mutagenesis experiment

Accessory elements

1045-1070 (Activation loop from InterPro)

Target domain	834-1162 (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

Autoinhibited structure

Activated structure

55 structures for P35968

Entry ID	Method	Resolution	Chain	Position	Source
1VR2	X-ray	240 A	A	806-1171	PDB
1Y6A	X-ray	210 A	A	806-1171	PDB
1Y6B	X-ray	210 A	A	806-1171	PDB
1YWN	X-ray	171 A	A	806-1171	PDB
2M59	NMR	-	A/B	759-795	PDB
2MET	NMR	-	A/B/C	759-795	PDB
2MEU	NMR	-	A/B	759-795	PDB
2OH4	X-ray	205 A	A	806-1171	PDB
2P2H	X-ray	195 A	A	815-1171	PDB
2P2I	X-ray	240 A	A/B	815-1171	PDB
2QU5	X-ray	295 A	A	815-1171	PDB
2QU6	X-ray	210 A	A/B	815-1171	PDB
2RL5	X-ray	265 A	A	815-1171	PDB
2X1W	X-ray	270 A	L/M/N/O	120-326	PDB
2X1X	X-ray	310 A	R	120-326	PDB
2XIR	X-ray	150 A	A	806-1171	PDB
3B8Q	X-ray	275 A	A/B	815-1171	PDB
3B8R	X-ray	270 A	A/B	815-1171	PDB
3BE2	X-ray	175 A	A	815-1171	PDB
3C7Q	X-ray	210 A	A	806-1171	PDB
3CJF	X-ray	215 A	A	806-1168	PDB
3CJG	X-ray	225 A	A	806-1168	PDB
3CP9	X-ray	250 A	A/B	815-1171	PDB
3CPB	X-ray	270 A	A/B	815-1171	PDB
3CPC	X-ray	240 A	A/B	815-1171	PDB
3DTW	X-ray	290 A	A/B	815-1171	PDB
3EFL	X-ray	220 A	A/B	815-1171	PDB
3EWH	X-ray	160 A	A	815-1171	PDB
3KVQ	X-ray	270 A	A	657-764	PDB
3S35	X-ray	220 A	X	220-338	PDB
3S36	X-ray	320 A	X	220-338	PDB
3S37	X-ray	270 A	X	220-338	PDB
3U6J	X-ray	215 A	A	815-1171	PDB
3V2A	X-ray	320 A	R	2-764	PDB
3V6B	X-ray	320 A	R	132-548	PDB
3VHE	X-ray	155 A	A	811-1169	PDB
3VHK	X-ray	249 A	A	806-1171	PDB
3VID	X-ray	230 A	A	813-1168	PDB
3VNT	X-ray	164 A	A	806-1171	PDB
3VO3	X-ray	152 A	A	806-1171	PDB
3WZD	X-ray	157 A	A	814-1172	PDB
3WZE	X-ray	190 A	A	814-1172	PDB
4AG8	X-ray	195 A	A	806-1171	PDB
4AGC	X-ray	200 A	A	787-1171	PDB
4AGD	X-ray	281 A	A	787-1171	PDB
4ASD	X-ray	203 A	A	787-1171	PDB
4ASE	X-ray	183 A	A	787-1171	PDB
5EW3	X-ray	250 A	A/B	806-1171	PDB
5OYJ	X-ray	238 A	C/D	326-549	PDB
6GQO	X-ray	187 A			PDB
6GQP	X-ray	209 A	A	806-1171	PDB
6GQQ	X-ray	152 A			PDB
6XVJ	X-ray	178 A	A	806-1171	PDB
6XVK	X-ray	199 A	A	806-1171	PDB
AF-P35968-F1	Predicted				AlphaFoldDB

998 variants for P35968

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA160329 RCV000121304 RCV001270196 rs587778428	242	L>F	Premature ovarian failure [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA122127 RCV000013111 rs34231037 RCV000121295 VAR_042057 RCV001355593	482	C>R	Capillary infantile hemangioma HCI; associated with disease susceptibility; expression of FLT1 in hemangioma endothelial cells is markedly reduced and KDR activity is increased compared to controls; low FLT1 expression in hemangioma cells is caused by reduced activity of a pathway involving ITGB1, ANTXR1, KDR and NFATC2IP; the mutation predicts to result in loss-of-function and disruption of the normal association of these molecules [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA160317 RCV000201301 rs34038364 RCV000121297 RCV000861134 VAR_042059	689	T>M	Hirschsprung disease, susceptibility to, 1 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001849436 rs149745504 COSM94566 RCV000862978 CA2924458 RCV000785688	771	T>M	lung Tufted angioma of skin [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1179566 CA174411 rs193921127 RCV000149129	787	R>Q	Malignant tumor of prostate prostate [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA251257 RCV000186521 rs795902896	794	G>R	Carcinoma of colon [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs794729676 RCV000186517 CA251249	886	L>I	Carcinoma of colon [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000186519 rs794729678 CA251253	902	L>Q	Carcinoma of colon [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000186520 rs200773668 CA251255	907	K>N	Carcinoma of colon [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs121917766 CA122126 RCV000121300 VAR_063147 RCV000013110	1147	P>S	Capillary infantile hemangioma HCI; somatic mutation [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs761176323 CA251270 RCV000186529	1163	L>F	Carcinoma of colon [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA356921577 rs1187053033	2	Q>H		No	ClinGen gnomAD
rs1389000621 CA356921592	2	Q>K		No	ClinGen gnomAD
rs1560526887 CA356921585	2	Q>P		No	ClinGen Ensembl
CA356921569 rs1177325277	3	S>T		No	ClinGen TOPMed
CA356921521 rs1424357101	8	A>T		No	ClinGen TOPMed
CA356921517 rs1412752377	8	A>V		No	ClinGen TOPMed
rs1578142836 CA356921491	9	V>G		No	ClinGen Ensembl
rs375186728 CA2925164	10	A>S		No	ClinGen ESP ExAC gnomAD
rs375186728 CA356921487	10	A>T		No	ClinGen ESP ExAC gnomAD
CA96921653 rs1023303395 COSM1430225	15	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA356921403 rs755460230	16	E>D		No	ClinGen ExAC gnomAD
CA2925163 rs755460230	16	E>D		No	ClinGen ExAC gnomAD
CA2925162 rs749829755	17	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1366052063 CA356921385	18	R>P		No	ClinGen TOPMed gnomAD
CA356921389 rs1216864286	18	R>W		No	ClinGen TOPMed gnomAD
CA356921378 rs1560526859	19	A>T		No	ClinGen Ensembl
rs1367844768 CA356921361	20	A>V		No	ClinGen TOPMed gnomAD
CA356921360 rs1427360662	21	S>P		No	ClinGen gnomAD
CA356920629 rs1298368191	23	G>D		No	ClinGen gnomAD
CA356921334 rs1170484244	23	G>S		No	ClinGen gnomAD
CA356920601 rs1193669433 COSM1671033	26	S>G	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1193669433 CA356920599	26	S>R		No	ClinGen TOPMed
CA356920557 rs1195910028	30	D>Y		No	ClinGen TOPMed gnomAD
rs375465295 CA2925145	31	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA96917634 rs962957956	32	P>S		No	ClinGen TOPMed gnomAD
rs149870540 CA2925141	33	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1209871142 CA356920522	34	L>I		No	ClinGen gnomAD
rs1318860280 CA356920456	39	D>E		No	ClinGen gnomAD
rs1179688174 CA356920460	39	D>G		No	ClinGen gnomAD
CA2925138 rs777565305	40	I>L		No	ClinGen ExAC TOPMed gnomAD
rs777565305 CA96917600	40	I>V		No	ClinGen ExAC TOPMed gnomAD
CA356920428 rs1251565662	42	T>K		No	ClinGen TOPMed gnomAD
CA356920430 rs1251565662	42	T>R		No	ClinGen TOPMed gnomAD
CA356920424 rs1179165600	43	I>V		No	ClinGen TOPMed gnomAD
CA2925137 rs758252991	45	A>T		No	ClinGen ExAC gnomAD
rs1255432071 CA356920376	47	T>A		No	ClinGen gnomAD
CA2925136 rs752603620	47	T>I		No	ClinGen ExAC gnomAD
CA356920368 rs752603620	47	T>R		No	ClinGen ExAC gnomAD
rs1326222760 CA356920352	48	T>I		No	ClinGen gnomAD
rs1336691868 CA356920346	49	L>P		No	ClinGen gnomAD
CA2925134 rs759593169	49	L>V		No	ClinGen ExAC TOPMed gnomAD
CA2925132 rs767520653	51	I>S		No	ClinGen ExAC gnomAD
CA356920301 rs1335407159	52	T>I		No	ClinGen TOPMed gnomAD
CA356920304 rs1335407159	52	T>N		No	ClinGen TOPMed gnomAD
CA96917538 rs756942805	54	R>G		No	ClinGen TOPMed
CA2925109 rs775784277	57	R>G		No	ClinGen ExAC gnomAD
rs139047809 CA2925108	57	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV001356648 COSM327100 CA160325 RCV000121302 rs139047809	57	R>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs930395618 CA356919899	58	D>E		No	ClinGen gnomAD
rs776989013 CA2925107	58	D>N		No	ClinGen ExAC gnomAD
CA356919904 rs776989013	58	D>Y		No	ClinGen ExAC gnomAD
CA356919889 rs1353450197	60	D>Y		No	ClinGen TOPMed
CA356919861 rs1283527403	63	W>C		No	ClinGen TOPMed
rs746468410 CA2925105	64	P>T		No	ClinGen ExAC gnomAD
CA2925104 rs772825269	65	N>S		No	ClinGen ExAC gnomAD
CA2925103 rs62638746	66	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA96914539 rs559345398	66	N>S		No	ClinGen Ensembl
CA2925102 rs747831463	68	S>T		No	ClinGen ExAC gnomAD
rs80237618 CA2925099	70	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs80237618 CA96914487	70	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs78312749 CA96914481	71	E>G		No	ClinGen Ensembl
rs1183551296 CA356919812	71	E>K		No	ClinGen TOPMed
CA2925098 rs779854548	72	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1578140341 CA356919797	73	R>T		No	ClinGen Ensembl
CA356919789 rs201868960	74	V>A		No	ClinGen TOPMed
CA96914436 rs201868960	74	V>G		No	ClinGen TOPMed
CA2925095 rs578077737	76	V>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs578077737 CA356919776	76	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1426723088 CA356919773	77	T>S		No	ClinGen gnomAD
CA2925094 rs369663607	78	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA356919768 rs1368794839	78	E>Q		No	ClinGen gnomAD
CA356919760 rs1578140329	79	C>G		No	ClinGen Ensembl
rs141577956 CA2925093	80	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3428557 CA2925091 rs201719457	81	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA356919721 rs1236160208	84	F>L		No	ClinGen gnomAD
rs1337972568 CA356919711	86	K>E		No	ClinGen TOPMed
rs1238505743 CA356919703	87	T>A		No	ClinGen TOPMed
rs1490727992 CA356919698	88	L>V		No	ClinGen gnomAD
rs771708296 CA96914337	89	T>I		No	ClinGen ExAC TOPMed gnomAD
rs771708296 CA2925086	89	T>K		No	ClinGen ExAC TOPMed gnomAD
rs142649575 CA96914320	90	I>V		No	ClinGen ESP TOPMed
rs1194785429 CA356919664	93	V>A		No	ClinGen gnomAD
CA2925085 rs75557765	94	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2925083 rs371800274	95	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2925082 rs749008787	96	N>S		No	ClinGen ExAC gnomAD
rs1243735999 CA356919626	99	G>A		No	ClinGen TOPMed
rs549011478 CA2925081	99	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs769571428 CA2925080	101	Y>C		No	ClinGen ExAC gnomAD
rs199760220 CA2925078	102	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2925077 rs758459381	105	Y>C		No	ClinGen ExAC gnomAD
CA2925075 rs200544155	106	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2925073 rs781436993	106	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2925074 rs200544155	106	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356919566 rs1469682616	108	T>I		No	ClinGen gnomAD
COSM362279 CA2925072 rs766796174	111	A>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs761016513 CA2925070	112	S>L		No	ClinGen ExAC TOPMed gnomAD
CA356919526 rs1471804068	112	S>P		No	ClinGen gnomAD
CA356919516 rs1437960932	113	V>I		No	ClinGen gnomAD
CA2925069 rs750976890	114	I>V		No	ClinGen ExAC TOPMed gnomAD
rs768200562 CA2925068	115	Y>C		No	ClinGen ExAC gnomAD
CA356919463 rs1226422486	117	Y>C		No	ClinGen gnomAD
CA356919448 rs1336748999	118	V>G		No	ClinGen TOPMed
rs774047462 CA2925066	118	V>I		No	ClinGen ExAC TOPMed gnomAD
CA356919446 rs1225168180	119	Q>E		No	ClinGen TOPMed gnomAD
CA2925065 rs768174958	119	Q>P		No	ClinGen ExAC gnomAD
CA356919439 rs768174958	119	Q>R		No	ClinGen ExAC gnomAD
CA96910947 rs937516900	120	D>G		No	ClinGen TOPMed
rs1319345939 COSM1430224 CA356918277	121	Y>C	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA356918260 rs1400955169	122	R>G		No	ClinGen gnomAD
CA356918173 rs1446690125	126	I>L		No	ClinGen gnomAD
rs1560523326 CA356918139	127	A>T		No	ClinGen Ensembl
CA2925038 rs759296314	130	S>N		No	ClinGen ExAC gnomAD
rs1161247451 CA356918085	131	D>N		No	ClinGen gnomAD
rs1314381271 CA356918013	133	H>Q		No	ClinGen gnomAD
CA2925036 rs770805149	134	G>R		No	ClinGen ExAC gnomAD
rs927340335 CA96910930	135	V>I		No	ClinGen Ensembl
rs35636987 CA160327 VAR_042054 RCV000121303 RCV000861192	136	V>M		No	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1216301937 CA356917916	138	I>L		No	ClinGen TOPMed gnomAD
CA96910907 rs1020732496	139	T>A		No	ClinGen Ensembl
rs988056261 CA96910885	140	E>D		No	ClinGen TOPMed gnomAD
CA2925033 rs749382062	141	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1169625355 CA356917803	142	K>E		No	ClinGen gnomAD
CA2925032 rs780322928	146	V>A		No	ClinGen ExAC gnomAD
rs1222002468 CA356917681	146	V>M		No	ClinGen gnomAD
CA96910860 rs935833761	147	V>A		No	ClinGen TOPMed gnomAD
rs1213357247 CA356917654	148	I>F		No	ClinGen gnomAD
rs1412296372 CA356917582	151	L>F		No	ClinGen TOPMed gnomAD
CA2925029 rs781709766	152	G>R		No	ClinGen ExAC gnomAD
COSM587578 CA2925026 rs561980415	156	N>D	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs545112274 CA356917384	159	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2925024 rs545112274	159	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1418767966 CA356917340	162	C>F		No	ClinGen gnomAD
rs1187037524 CA356917322	163	A>G		No	ClinGen gnomAD
CA2925004 rs754554605	166	P>Q		No	ClinGen ExAC gnomAD
CA356917225 rs1207283959	167	E>K		No	ClinGen gnomAD
CA2925003 rs753500578	168	K>E		No	ClinGen ExAC gnomAD
CA96910453 rs978856054	169	R>G		No	ClinGen Ensembl
CA356917205 rs1349105196	170	F>L		No	ClinGen TOPMed
rs766074747 CA2925002	171	V>L		No	ClinGen ExAC TOPMed gnomAD
rs370917098 CA96910428	172	P>A		No	ClinGen ESP TOPMed
rs370917098 CA96910409	172	P>S		No	ClinGen ESP TOPMed
rs1326104956 CA356917186	173	D>A		No	ClinGen gnomAD
rs760455426 CA2925001	173	D>E		No	ClinGen ExAC gnomAD
rs1371982221 CA356917179	174	G>D		No	ClinGen TOPMed gnomAD
rs750228899 CA2925000	174	G>S		No	ClinGen ExAC TOPMed gnomAD
CA2924998 rs377524308	175	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA96910392 rs377524308	175	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1000474540 CA96910399	175	N>S		No	ClinGen TOPMed
rs767472754 CA2924999	175	N>Y		No	ClinGen ExAC gnomAD
rs1039246901 CA96910380	177	I>T		No	ClinGen TOPMed gnomAD
rs772404582 CA2924995	186	T>I		No	ClinGen ExAC TOPMed gnomAD
CA2924994 rs776981022	188	P>L		No	ClinGen ExAC gnomAD
CA96910366 rs202219558	189	S>G		No	ClinGen 1000Genomes
CA356917075 rs1184345831	190	Y>N		No	ClinGen TOPMed
rs1250958954 CA356917063	191	M>T		No	ClinGen TOPMed
rs1051109918 CA96910365	193	S>N		No	ClinGen TOPMed
CA356917040 rs771346559	194	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA2924993 rs771346559	194	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs747377229 CA2924992	196	G>A		No	ClinGen ExAC TOPMed gnomAD
rs373521029 CA2924990	197	M>V		No	ClinGen ESP ExAC gnomAD
CA356916988 rs1435582465	202	A>T		No	ClinGen TOPMed
rs1029548195 CA96910322	204	I>N		No	ClinGen Ensembl
CA2924987 rs376768864	205	N>S		No	ClinGen ESP ExAC TOPMed
rs866148496 CA96910307	206	D>N		No	ClinGen Ensembl
rs753408888 CA2924986	207	E>G		No	ClinGen ExAC gnomAD
CA96910303 rs748969953	207	E>Q		No	ClinGen Ensembl
CA356916927 rs1259259717	210	Q>H		No	ClinGen TOPMed gnomAD
rs779652851 CA2924985	210	Q>R		No	ClinGen ExAC gnomAD
rs576918743 CA2924984	212	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs750185585 CA2924983	213	M>I		No	ClinGen ExAC gnomAD
CA2924982 rs553403491	215	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA2924980 COSM1255507 rs145458680	218	V>I	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA2924978 rs200675807	219	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs764184837 CA2924979	219	V>L		No	ClinGen ExAC gnomAD
rs1195438727 CA356916597	222	R>G		No	ClinGen gnomAD
CA356916588 rs1489692118	223	I>V		No	ClinGen gnomAD
CA96909561 rs78036574	224	Y>C		No	ClinGen Ensembl
rs74857040 CA2924952	224	Y>D		No	ClinGen ExAC gnomAD
rs79087316 CA96909521	225	D>G		No	ClinGen Ensembl
rs75079316 CA96909555	225	D>Y		No	ClinGen Ensembl
CA356916519 rs1222639308	229	S>I		No	ClinGen gnomAD
rs1357848255 CA356916498	230	P>L		No	ClinGen TOPMed gnomAD
rs978813018 CA96909496	232	H>N		No	ClinGen TOPMed
CA356916377 rs1274905750	236	L>P		No	ClinGen gnomAD
CA2924948 rs202080764	237	S>F		No	ClinGen ESP ExAC gnomAD
CA96909483 rs750699220	238	V>I		No	ClinGen TOPMed gnomAD
rs374339331 CA96909482	239	G>E		No	ClinGen ESP
rs774917471 CA2924947	240	E>G		No	ClinGen ExAC gnomAD
CA356916276 rs1443344654	241	K>Q		No	ClinGen TOPMed
rs1394404784 CA356916207	243	V>A		No	ClinGen gnomAD
CA2924946 rs745441770	243	V>L		No	ClinGen ExAC
rs1364766741 CA356916152	245	N>S		No	ClinGen TOPMed
rs911088705 CA96909458	247	T>A		No	ClinGen TOPMed gnomAD
CA2924944 rs371956918	247	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA2924942 rs746750854	248	A>V		No	ClinGen ExAC gnomAD
CA96909434 rs757721265	249	R>K		No	ClinGen Ensembl
CA96909429 rs140419104	250	T>A		No	ClinGen Ensembl
rs1199119724 CA356916000	252	L>Q		No	ClinGen gnomAD
rs777739723 CA356915957	254	V>L		No	ClinGen ExAC TOPMed gnomAD
rs777739723 CA2924941	254	V>M		No	ClinGen ExAC TOPMed gnomAD
rs758344832 CA2924940	255	G>R		No	ClinGen ExAC gnomAD
CA2924937 rs756139175	258	F>L		No	ClinGen ExAC gnomAD
CA96909405 rs151220324	259	N>H		No	ClinGen Ensembl
CA356915859 rs750554254	259	N>K		No	ClinGen ExAC TOPMed gnomAD
CA2924935 rs587778429	263	P>A		No	ClinGen ExAC TOPMed gnomAD
RCV000121305 CA160331 rs587778429	263	P>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA2924934 COSM353283 rs587778429	263	P>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1438804033 CA356915772	264	S>C		No	ClinGen TOPMed gnomAD
rs1438804033 CA356915770 COSM1319322	264	S>F	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA96909384 rs890291692	264	S>T		No	ClinGen TOPMed gnomAD
RCV000121306 CA160333 rs539911006	265	S>L		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA356915547 rs562809810	269	H>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs562809810 CA2924918	269	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA96908877 rs954623491	270	K>E		No	ClinGen TOPMed
rs757407936 CA2924916	272	L>F		No	ClinGen ExAC TOPMed gnomAD
rs757407936 CA356915482	272	L>V		No	ClinGen ExAC TOPMed gnomAD
CA356915469 rs1486918987	273	V>L		No	ClinGen TOPMed
rs1313574063 CA356915449	274	N>D		No	ClinGen gnomAD
CA2924914 rs764358120	275	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2924913 rs532356730	279	T>S		No	ClinGen 1000Genomes ExAC gnomAD
CA96908795 rs931215054	281	S>C		No	ClinGen Ensembl
CA96908787 rs962180771	284	E>D		No	ClinGen TOPMed
CA2924911 rs765640763	285	M>T		No	ClinGen ExAC gnomAD
rs1419103501 CA356915200	285	M>V		No	ClinGen TOPMed
CA356915109 rs1157961221	288	F>Y		No	ClinGen TOPMed
rs1578138374 CA356915093	289	L>F		No	ClinGen Ensembl
rs1560522492 CA356915097	289	L>S		No	ClinGen Ensembl
CA356915081 rs1157625600	290	S>R		No	ClinGen gnomAD
rs1342902707 CA356915060	291	T>A		No	ClinGen TOPMed
rs1439832557 CA356915041	292	L>V		No	ClinGen gnomAD
CA96908784 rs548382655	293	T>A		No	ClinGen TOPMed
rs760118634 CA2924910	293	T>S		No	ClinGen ExAC gnomAD
CA2924909 rs775934695	294	I>V		No	ClinGen ExAC TOPMed gnomAD
CA96908741 rs760317706	295	D>E		No	ClinGen ExAC TOPMed gnomAD
CA2924908 rs770577863	295	D>G		No	ClinGen ExAC gnomAD
rs1212024668 CA356914972	296	G>C		No	ClinGen gnomAD
CA2924906 rs771886205	297	V>A		No	ClinGen ExAC gnomAD
VAR_022071 CA160337 COSM1131107 RCV000121308 rs2305948	297	V>I	prostate [Cosmic]	No	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA356914955 rs2305948	297	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1355954905 CA356914932	298	T>I		No	ClinGen gnomAD
rs1355954905 CA356914935	298	T>N		No	ClinGen gnomAD
rs375035755 CA2924904	299	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA160335 rs368062574 RCV000121307	299	R>W		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA356914808 rs1223412673	304	L>S		No	ClinGen TOPMed
rs575803378 CA2924902	306	T>I		No	ClinGen ExAC gnomAD
CA356914683 rs1326193921	314	M>K		No	ClinGen gnomAD
rs751705247 CA2924900	318	N>I		No	ClinGen ExAC gnomAD
CA2924899 rs777940889	319	S>G		No	ClinGen ExAC gnomAD
CA2924898 rs758670911	320	T>I		No	ClinGen ExAC TOPMed gnomAD
CA96908640 rs948522767	321	F>C		No	ClinGen Ensembl
rs141774293 CA96908655	321	F>I		No	ClinGen ESP gnomAD
rs752957394 CA2924897	323	R>G		No	ClinGen ExAC gnomAD
CA356914581 rs1560522409	323	R>T		No	ClinGen Ensembl
CA2924896 rs765637938	325	H>Y		No	ClinGen ExAC gnomAD
rs749910793 CA2924851	327	K>N		No	ClinGen ExAC gnomAD
CA2924850 rs767143286 COSM3825987	328	P>H	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA96906235 rs957901811	329	F>S		No	ClinGen TOPMed
rs761317000 CA2924849	330	V>F		No	ClinGen ExAC gnomAD
rs1294722006 CA356913686	331	A>G		No	ClinGen gnomAD
rs774043818 CA356913687	331	A>S		No	ClinGen ExAC gnomAD
CA2924848 rs774043818	331	A>T		No	ClinGen ExAC gnomAD
CA356913682 rs1294722006	331	A>V		No	ClinGen gnomAD
rs762779214 CA2924846	333	G>E		No	ClinGen ExAC gnomAD
CA2924847 rs763724811	333	G>R		No	ClinGen ExAC gnomAD
CA356913647 rs1373195019	334	S>N		No	ClinGen TOPMed
CA2924845 rs775314212	335	G>S		No	ClinGen ExAC gnomAD
CA2924843 rs745838823	336	M>I		No	ClinGen ExAC gnomAD
CA2924842 rs773217040	337	E>G		No	ClinGen ExAC gnomAD
CA356913575 rs1161347839	339	L>V		No	ClinGen TOPMed
rs779163827 CA2924839	342	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1480331564 CA356913517	343	T>K		No	ClinGen TOPMed gnomAD
COSM1738951 rs1480331564 CA356913512	343	T>M	NS haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA2924835 rs368229078	346	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs368229078 CA356913488	346	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA2924834 rs750983015	347	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2924831 COSM327102 rs551579207	347	R>H	lung haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA2924833 rs551579207	347	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2924832 rs551579207	347	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2924830 rs763780611	348	V>A		No	ClinGen ExAC gnomAD
CA96906004 rs1824302	349	R>K		No	ClinGen Ensembl
CA356913461 rs1302908825	350	I>L		No	ClinGen gnomAD
CA2924828 rs151317075	352	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs151317075 COSM42900 RCV000121309 CA160339 RCV000865154	352	A>V	endometrium central_nervous_system [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs770813941 CA2924825	355	L>R		No	ClinGen ExAC gnomAD
rs748233238 CA2924824	356	G>V		No	ClinGen ExAC gnomAD
CA96905916 rs866739211	357	Y>C		No	ClinGen Ensembl
CA96905904 rs770118276	359	P>A		No	ClinGen TOPMed gnomAD
CA2924823 rs774314168	359	P>H		No	ClinGen ExAC gnomAD
CA356913376 rs770118276	359	P>T		No	ClinGen TOPMed gnomAD
CA2924820 rs148390587	361	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs148390587 CA2924821	361	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2924819 rs368979581	364	W>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs763185398 CA2924802	365	Y>S		No	ClinGen ExAC gnomAD
rs1295853705 CA356913198	370	P>S		No	ClinGen gnomAD
rs770185306 CA2924800	371	L>V		No	ClinGen ExAC gnomAD
rs113121239 COSM1579012 RCV000861936 CA160343 RCV000121311	372	E>D	ovary [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2924798 rs771429795	374	N>I		No	ClinGen ExAC gnomAD
CA2924799 rs771429795	374	N>S		No	ClinGen ExAC gnomAD
CA356913105 rs747477930	379	A>G		No	ClinGen ExAC TOPMed gnomAD
rs747477930 CA2924797	379	A>V		No	ClinGen ExAC TOPMed gnomAD
CA356913094 rs1293114817	380	G>V		No	ClinGen gnomAD
CA356913089 rs1341403136	381	H>Y		No	ClinGen gnomAD
CA2924795 rs757898712	382	V>E		No	ClinGen ExAC gnomAD
CA356913072 rs757898712	382	V>G		No	ClinGen ExAC gnomAD
RCV000121310 RCV001460346 rs201708587 CA160341	384	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs949197675 CA96905556	386	M>T		No	ClinGen Ensembl
rs754642542 CA2924793	386	M>V		No	ClinGen ExAC TOPMed gnomAD
rs905238452 CA96905554	388	V>G		No	ClinGen Ensembl
CA96905541 rs367937648	390	E>D		No	ClinGen ESP
rs753625353 COSM1618916 CA2924792	390	E>K	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1170475733 CA356912984	391	R>G		No	ClinGen gnomAD
CA96905538 rs2034964	392	D>N		No	ClinGen Ensembl
rs766088315 CA2924791	393	T>I		No	ClinGen ExAC gnomAD
rs760600929 CA2924790	397	T>A		No	ClinGen ExAC gnomAD
rs767560921 COSM587586 CA2924789	398	V>A	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs587778430 RCV000121312 CA160345	398	V>I		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA2924788 rs763097337	399	I>V		No	ClinGen ExAC gnomAD
rs770093244 CA2924786	401	T>I		No	ClinGen ExAC TOPMed gnomAD
rs759869837 CA2924785	403	P>L		No	ClinGen ExAC gnomAD
rs1217850741 CA356912856	403	P>S		No	ClinGen gnomAD
rs776989688 CA2924784	406	K>E		No	ClinGen ExAC gnomAD
CA2924783 rs771216407	406	K>R		No	ClinGen ExAC gnomAD
CA356912830 rs1578137075	407	E>K		No	ClinGen Ensembl
CA2924782 rs747471120	407	E>V		No	ClinGen ExAC gnomAD
rs561800569 CA2924781	410	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA2924777 rs751603128	416	V>A		No	ClinGen ExAC TOPMed gnomAD
CA356912764 rs1426140542	417	V>L		No	ClinGen gnomAD
CA2924775 rs779812906	418	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs779812906 CA356912756	418	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs1239915090 CA356912598	419	V>G		No	ClinGen gnomAD
rs779543296 CA2924757 COSM1056149	421	P>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs775023030 CA2924756	424	G>A		No	ClinGen ExAC gnomAD
CA96899695 rs775023030	424	G>D		No	ClinGen ExAC gnomAD
CA356912493 rs1348670662	429	I>F		No	ClinGen gnomAD
rs757198176 CA2924753	429	I>T		No	ClinGen ExAC TOPMed gnomAD
rs866757930 CA96899653	430	S>F		No	ClinGen Ensembl
rs751558948 CA2924752	430	S>P		No	ClinGen ExAC gnomAD
CA356912475 rs1379812941	431	P>S		No	ClinGen gnomAD
rs754979123 CA2924750	438	G>R		No	ClinGen ExAC TOPMed gnomAD
rs754979123 CA96899648	438	G>S		No	ClinGen ExAC TOPMed gnomAD
rs753996341 CA2924749	439	T>I		No	ClinGen ExAC TOPMed gnomAD
CA356912382 rs1415785271	440	T>I		No	ClinGen gnomAD
rs972393492 CA96899632	441	Q>R		No	ClinGen gnomAD
CA356912363 rs766459956	442	T>K		No	ClinGen ExAC TOPMed gnomAD
COSM1580095 rs766459956 CA2924748	442	T>M	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs773497898 CA2924746	443	L>V		No	ClinGen ExAC gnomAD
CA2924744 rs762221907	446	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1189905303 CA356912296	449	A>T		No	ClinGen gnomAD
rs1262703517 CA356912269	452	P>T		No	ClinGen gnomAD
CA2924742 rs769193899	453	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2924740 rs139156665	454	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1560520305 CA356912225	456	I>V		No	ClinGen Ensembl
CA356912182 rs1228182220	459	Y>C		No	ClinGen gnomAD
rs1409191099 CA356912169	460	W>L		No	ClinGen TOPMed gnomAD
rs56286620 CA356912151	462	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1429039237 CA356912147	462	L>S		No	ClinGen gnomAD
rs56286620 RCV000861138 VAR_042056 CA160309 RCV000121292	462	L>V		No	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA356912137 rs1578135925	463	E>G		No	ClinGen Ensembl
CA96899539 rs78172604	464	E>G		No	ClinGen Ensembl
CA2924736 rs746838678	464	E>K		No	ClinGen ExAC gnomAD
CA2924735 rs777827543	465	E>K		No	ClinGen ExAC gnomAD
CA356912105 rs1578135912	466	C>G		No	ClinGen Ensembl
rs1414415639 CA356912077	467	A>D		No	ClinGen gnomAD
CA356912079 rs1404646083	467	A>S		No	ClinGen TOPMed gnomAD
CA356912081 COSM192182 rs1404646083	467	A>T	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA2924732 rs141384787	468	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2924733 rs141384787	468	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA96899519 rs997496217	468	N>S		No	ClinGen TOPMed
rs1371472759 CA356912038	469	E>G		No	ClinGen TOPMed
COSM1578963 CA96899488 rs941528100	469	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA356912018 rs1476714753	470	P>R		No	ClinGen gnomAD
CA160311 COSM149673 VAR_020353 RCV000121293 rs1870377	472	Q>H	large_intestine stomach [Cosmic]	No	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1478396082 CA356911897	472	Q>P		No	ClinGen gnomAD
rs771833921 CA2924717	473	A>D		No	ClinGen ExAC gnomAD
rs778773606 CA2924715	474	V>L		No	ClinGen ExAC TOPMed gnomAD
rs960244346 CA96898825	475	S>P		No	ClinGen TOPMed
CA2924714 rs756213886	477	T>A		No	ClinGen ExAC gnomAD
rs750539689 CA2924713	480	Y>H		No	ClinGen ExAC gnomAD
rs751882735 CA2924711	482	C>F		No	ClinGen ExAC gnomAD
rs1375902608 CA356911668	486	R>G		No	ClinGen gnomAD
rs1179439779 CA356911642	487	S>N		No	ClinGen TOPMed
CA356911612 rs1466965239	489	E>D		No	ClinGen gnomAD
rs1365442922 CA356911619	489	E>G		No	ClinGen TOPMed
rs370568507 CA2924710	489	E>Q		No	ClinGen ESP ExAC gnomAD
CA356911590 rs1171958274	490	D>E		No	ClinGen TOPMed
rs758778611 CA2924709	490	D>N		No	ClinGen ExAC gnomAD
CA2924708 rs143901615	491	F>L		No	ClinGen ESP ExAC gnomAD
rs1415122811 CA356911579	491	F>S		No	ClinGen gnomAD
rs1427278468 CA356911556	492	Q>H		No	ClinGen TOPMed gnomAD
rs1415977038 CA356911544	493	G>E		No	ClinGen TOPMed
rs765732771 CA2924707 COSM587587	497	I>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA160313 RCV000121294 rs587778424	498	E>V		No	ClinGen ClinVar TOPMed dbSNP
rs759091771 CA2924706	499	V>I		No	ClinGen ExAC gnomAD
rs766085732 CA2924704	505	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1161202287 CA356911341	506	L>V		No	ClinGen Ensembl
rs760403550 CA2924703	507	I>N		No	ClinGen ExAC TOPMed gnomAD
rs760403550 CA356911318	507	I>T		No	ClinGen ExAC TOPMed gnomAD
CA356911323 rs1336457631	507	I>V		No	ClinGen TOPMed
rs866807777 COSM1694408 CA96898725	509	G>E	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA356911295 rs1253895551	509	G>R		No	ClinGen gnomAD
CA2924702 rs772824384	511	N>D		No	ClinGen ExAC gnomAD
rs773352148 CA96898127	513	T>A		No	ClinGen Ensembl
CA356910712 rs1311687491	514	V>I		No	ClinGen gnomAD
rs967114036 CA96898125	515	S>C		No	ClinGen Ensembl
CA356910704 rs1239988448	515	S>N		No	ClinGen TOPMed
rs1486609930 CA356910696	516	T>N		No	ClinGen TOPMed
rs760319455 CA2924684	518	V>D		No	ClinGen ExAC gnomAD
CA2924685 rs765996740	518	V>F		No	ClinGen ExAC TOPMed gnomAD
CA356910675 rs1412392037	520	Q>E		No	ClinGen TOPMed
CA2924683 rs772912254	521	A>V		No	ClinGen ExAC TOPMed gnomAD
CA2924680 rs774038950	526	A>G		No	ClinGen ExAC gnomAD
rs1456500122 CA356910621	528	Y>C		No	ClinGen TOPMed
CA2924679 rs147066083	532	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA356910578 rs1425922231	534	N>S		No	ClinGen gnomAD
rs1487678797 CA356910558	537	G>R		No	ClinGen gnomAD
rs778028304 CA2924674	538	R>K		No	ClinGen ExAC gnomAD
CA356910546 rs1487493814	539	G>E		No	ClinGen gnomAD
rs55716939 CA160315 RCV000121296 RCV000862412 VAR_042058	539	G>R		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs748503151 CA2924673	540	E>K		No	ClinGen ExAC gnomAD
CA356910534 rs1222102122	541	R>K		No	ClinGen gnomAD
rs563652934 CA2924672	542	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA356910518 rs150270342	543	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2924669 rs780773687	544	S>P		No	ClinGen ExAC gnomAD
CA2924668 rs376432106	546	H>P		No	ClinGen ESP ExAC gnomAD
rs761405036 CA2924665	547	V>L		No	ClinGen ExAC TOPMed gnomAD
rs761405036 CA2924666	547	V>M		No	ClinGen ExAC TOPMed gnomAD
rs751302343 CA2924664	548	T>A		No	ClinGen ExAC TOPMed gnomAD
CA2924663 rs763891302	549	R>G		No	ClinGen ExAC gnomAD
rs772028072 CA2924641	550	G>C		No	ClinGen ExAC TOPMed gnomAD
rs762019433 CA2924639	550	G>D		No	ClinGen ExAC gnomAD
rs772028072 CA2924640	550	G>R		No	ClinGen ExAC TOPMed gnomAD
rs772028072 CA356910470	550	G>S		No	ClinGen ExAC TOPMed gnomAD
rs774683734 CA2924638	552	E>G		No	ClinGen ExAC gnomAD
rs769046578 CA2924637	554	T>A		No	ClinGen ExAC gnomAD
CA2924636 rs749620473	558	D>E		No	ClinGen ExAC gnomAD
rs1256613686 CA356910412	559	M>L		No	ClinGen TOPMed gnomAD
CA2924635 rs571373045	559	M>R		No	ClinGen 1000Genomes ExAC gnomAD
CA356910410 rs571373045	559	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1256613686 CA356910413	559	M>V		No	ClinGen TOPMed gnomAD
CA356910388 rs1309169009	562	T>N		No	ClinGen gnomAD
CA356910379 rs1317027204	563	E>D		No	ClinGen gnomAD
rs1447998551 CA356910382	563	E>G		No	ClinGen gnomAD
rs761933271 CA2924633	564	Q>E		No	ClinGen ExAC gnomAD
CA2924632 rs781752678	565	E>K		No	ClinGen ExAC gnomAD
CA2924631 rs756721127	566	S>N		No	ClinGen ExAC gnomAD
rs777384738 CA2924629	566	S>R		No	ClinGen ExAC gnomAD
COSM249552 rs201069157 CA2924628	567	V>M	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs796652295 CA96897497	568	S>A		No	ClinGen Ensembl
CA356910350 rs1560519161	568	S>C		No	ClinGen Ensembl
CA2924627 rs752419161	569	L>F		No	ClinGen ExAC TOPMed gnomAD
CA356910321 rs1560519153	572	T>N		No	ClinGen Ensembl
CA2924625 rs754856383	575	R>I		No	ClinGen ExAC TOPMed gnomAD
CA96897492 rs754856383	575	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1037880054 CA96897488	577	T>M		No	ClinGen Ensembl
rs1488566148 CA356910244	578	F>L		No	ClinGen TOPMed
rs766379387 CA356910190	582	T>I		No	ClinGen ExAC
rs766379387 CA2924623	582	T>R		No	ClinGen ExAC
rs1578134730 CA356910115	587	G>A		No	ClinGen Ensembl
rs1258995310 CA356910103	588	P>L		No	ClinGen TOPMed
CA356910076 rs1213197083	590	P>L		No	ClinGen gnomAD
CA356910078 rs1213197083	590	P>R		No	ClinGen gnomAD
rs140825421 CA2924619	590	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs146888336 CA2924617	593	I>F		No	ClinGen 1000Genomes ExAC gnomAD
CA2924616 rs746311924	593	I>M		No	ClinGen ExAC TOPMed gnomAD
rs146888336 CA356910049	593	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA2924615 rs369310569	594	H>D		No	ClinGen ESP ExAC gnomAD
rs1282839301 CA356910027	596	G>E		No	ClinGen gnomAD
rs1339571252 CA356910007	599	P>R		No	ClinGen gnomAD
CA2924614 rs771521731	599	P>S		No	ClinGen ExAC gnomAD
rs1166748973 CA356910004	600	T>A		No	ClinGen TOPMed
rs1313095150 CA356909993	601	P>L		No	ClinGen gnomAD
CA96897414 rs774826888	602	V>A		No	ClinGen Ensembl
CA96897411 rs983721422	604	K>R		No	ClinGen gnomAD
CA356909953 rs1364137206	607	D>G		No	ClinGen TOPMed
CA2924612 rs777299134	607	D>H		No	ClinGen ExAC TOPMed gnomAD
CA356909943 rs1400764978	609	L>V		No	ClinGen TOPMed
rs1161286305 CA356909936	610	W>R		No	ClinGen gnomAD
CA356909885 rs1190244058	613	N>S		No	ClinGen gnomAD
rs753716162 CA2924607	616	M>I		No	ClinGen ExAC gnomAD
CA2924608 rs754697860	616	M>T		No	ClinGen ExAC gnomAD
rs1449267006 CA356909832	617	F>S		No	ClinGen gnomAD
rs1379433359 CA356909821	618	S>P		No	ClinGen Ensembl
CA2924606 rs766176109	620	S>I		No	ClinGen ExAC gnomAD
COSM734145 CA2924605 rs756106012	620	S>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1290988531 CA356909777	621	T>K		No	ClinGen TOPMed
COSM1582625 CA356909767 rs1316722582	622	N>S	stomach [Cosmic]	No	ClinGen cosmic curated TOPMed
CA2924604 rs751624655	623	D>N		No	ClinGen ExAC gnomAD
CA2924603 rs764284784	625	L>F		No	ClinGen ExAC TOPMed gnomAD
CA2924602 rs376258268 COSM1310143	626	I>V	urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1193825778 CA356909704	627	M>L		No	ClinGen TOPMed
rs200612171 CA96897372	627	M>T		No	ClinGen Ensembl
CA356909671 rs1337809327	629	L>F		No	ClinGen TOPMed gnomAD
CA96897367 rs199545268	631	N>I		No	ClinGen ESP TOPMed
rs201590973 CA96897362	631	N>K		No	ClinGen TOPMed
CA96897370 rs199545268	631	N>S		No	ClinGen ESP TOPMed
CA2924601 rs548682808	632	A>P		No	ClinGen 1000Genomes ExAC gnomAD
rs548682808 CA356909635	632	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA356909629 rs1560519017	632	A>V		No	ClinGen Ensembl
rs959544461 CA96897355	639	D>V		No	ClinGen Ensembl
CA2924599 rs759802154	644	A>T		No	ClinGen ExAC gnomAD
rs774211387 CA2924598	645	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs774211387 CA2924597	645	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1347237662 CA356909415	646	D>E		No	ClinGen TOPMed
rs747524669 CA2924596	647	R>G		No	ClinGen ExAC TOPMed gnomAD
CA356909363 rs1476992566	649	T>N		No	ClinGen gnomAD
CA356909317 rs1353678100	651	K>R		No	ClinGen TOPMed
CA356909258 rs1423139233	654	C>G		No	ClinGen gnomAD
COSM1056146 rs747693621 CA2924593	655	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1245496127 CA356909226	656	V>I		No	ClinGen TOPMed gnomAD
rs1198699406 CA356909202	657	R>S		No	ClinGen gnomAD
CA356909160 rs1275390008	660	T>A		No	ClinGen gnomAD
rs1275390008 CA356909161	660	T>P		No	ClinGen gnomAD
CA356909146 rs1197122708	661	V>I		No	ClinGen gnomAD
CA356909125 rs1214707836	662	L>P		No	ClinGen TOPMed gnomAD
CA356909132 rs779902862	662	L>V		No	ClinGen ExAC TOPMed gnomAD
CA2924567 rs779058362	663	E>G		No	ClinGen ExAC gnomAD
rs755067067 CA2924566	664	R>C		No	ClinGen ExAC TOPMed gnomAD
rs540277686 CA2924565	664	R>H		No	ClinGen ExAC TOPMed gnomAD
rs540277686 CA96896073	664	R>P		No	ClinGen ExAC TOPMed gnomAD
CA2924564 COSM587593 rs199774865	668	T>M	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA356908654 rs199774865	668	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV001200283 COSM1581107 CA2924562 rs149740758	671	G>E	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2924561 RCV000868619 rs139644107	674	E>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2924560 rs762386797	676	Q>E		No	ClinGen ExAC gnomAD
COSM192180 CA2924559 rs200338299	677	T>M	kidney large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1225228256 CA356908543	679	S>G		No	ClinGen TOPMed gnomAD
rs1212783208 CA356908537	679	S>N		No	ClinGen TOPMed gnomAD
CA356908519 rs768199296	680	I>M		No	ClinGen ExAC TOPMed gnomAD
CA2924557 rs762437152	681	G>V		No	ClinGen ExAC TOPMed gnomAD
CA2924556 rs775179342	682	E>K		No	ClinGen ExAC gnomAD
rs769621134 CA356908475	684	I>M		No	ClinGen ExAC gnomAD
COSM1056145 rs374980446 CA2924554	685	E>K	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs776601201 CA2924553	687	S>L		No	ClinGen ExAC gnomAD
rs1346271402 CA356908443	688	C>S		No	ClinGen gnomAD
rs770929464 CA2924552	689	T>A		No	ClinGen ExAC gnomAD
CA356908421 rs199504669	690	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1430218 rs199504669 CA2924550	690	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA356908419 rs1475265684	690	A>V		No	ClinGen gnomAD
CA2924547 rs756358189	693	N>K		No	ClinGen ExAC TOPMed gnomAD
rs780199440 CA96895980	693	N>S		No	ClinGen ExAC TOPMed gnomAD
rs780199440 CA2924548	693	N>T		No	ClinGen ExAC TOPMed gnomAD
CA2924544 rs757621830	695	P>L		No	ClinGen ExAC gnomAD
rs767881241 CA2924545	695	P>T		No	ClinGen ExAC gnomAD
CA2924543 rs752103476	697	Q>E		No	ClinGen ExAC gnomAD
CA2924541 rs762503710	699	M>T		No	ClinGen ExAC TOPMed gnomAD
CA356908337 rs1357580501	699	M>V		No	ClinGen gnomAD
rs1290906332 CA356908275	704	N>K		No	ClinGen TOPMed gnomAD
CA96895964 rs201047511	704	N>S		No	ClinGen Ensembl
CA2924539 rs759270473	705	E>D		No	ClinGen ExAC gnomAD
CA2924537 rs776513559	706	T>A		No	ClinGen ExAC gnomAD
CA2924535 rs746815762	708	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1302099809 CA356908098	717	D>N		No	ClinGen Ensembl
rs1194087645 CA356908063	720	R>G		No	ClinGen TOPMed gnomAD
rs375909858 COSM3775896 CA2924510	720	R>Q	urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA356908013 rs537546608	724	I>L		No	ClinGen Ensembl
rs537546608 CA96895501	724	I>V		No	ClinGen Ensembl
rs189413564 CA96895496	725	R>L		No	ClinGen 1000Genomes
rs1195403759 CA356907984	726	R>S		No	ClinGen gnomAD
rs747362899 CA2924506 COSM1430216	732	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs747362899 CA2924507	732	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA356907879 rs1236976550	735	Y>C		No	ClinGen gnomAD
rs1412177179 CA356907848	738	Q>K		No	ClinGen TOPMed gnomAD
rs779599662 CA2924502	738	Q>L		No	ClinGen ExAC gnomAD
CA96895441 rs779599662	738	Q>R		No	ClinGen ExAC gnomAD
rs754510705 CA2924501	742	V>L		No	ClinGen ExAC gnomAD
rs1432307294 CA356907779	744	G>D		No	ClinGen gnomAD
rs753418486 CA2924500	748	V>G		No	ClinGen ExAC gnomAD
rs146574274 CA2924497	749	E>D		No	ClinGen ExAC TOPMed gnomAD
CA2924498 rs760248367	749	E>K		No	ClinGen ExAC gnomAD
CA2924494 rs774241378	753	I>K		No	ClinGen ExAC TOPMed gnomAD
rs372199336 CA2924493	753	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA356907693 rs774241378	753	I>T		No	ClinGen ExAC TOPMed gnomAD
CA2924495 rs761663218	753	I>V		No	ClinGen ExAC TOPMed gnomAD
rs142846122 CA96895381	755	E>Q		No	ClinGen Ensembl
rs1354404230 CA356907313	756	G>V		No	ClinGen gnomAD
CA2924465 rs566194394	757	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1293416103 CA356907310	757	A>P		No	ClinGen gnomAD
rs1317482906 CA356907282	761	T>A		No	ClinGen gnomAD
rs139500968 CA356907279	761	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2924464 rs139500968	761	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1163085666 CA356907273	762	N>S		No	ClinGen gnomAD
CA2924461 rs745431769	765	I>S		No	ClinGen ExAC gnomAD
rs141493431 CA2924460	766	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs141493431 CA2924459	766	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1027071512 CA96893240	767	I>T		No	ClinGen TOPMed
rs866146654 CA96893229	769	V>A		No	ClinGen Ensembl
rs587778425 CA160319 RCV000121298	769	V>I		No	ClinGen ClinVar dbSNP gnomAD
rs587778425 CA356907232	769	V>L		No	ClinGen gnomAD
CA356907221 rs1449119482 COSM1291929	771	T>A	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
CA96893201 rs1062832	772	A>T		No	ClinGen TOPMed gnomAD
rs199982402 COSM172826 CA2924456	772	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA356907208 rs1578132267	773	V>G		No	ClinGen Ensembl
rs1269556567 CA356907189	776	M>I		No	ClinGen gnomAD
CA2924452 rs767778903	776	M>L		No	ClinGen ExAC TOPMed gnomAD
rs767778903 CA2924451	776	M>V		No	ClinGen ExAC TOPMed gnomAD
CA2924449 rs774769718	778	F>L		No	ClinGen ExAC TOPMed gnomAD
rs769138106 CA2924448	782	L>F		No	ClinGen ExAC TOPMed gnomAD
rs750475983 CA96893128	782	L>P		No	ClinGen TOPMed
CA96893124 rs139553596	783	V>L		No	ClinGen 1000Genomes
rs749701671 CA2924447	784	I>V		No	ClinGen ExAC TOPMed gnomAD
CA96893096 rs1139774	787	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1139774 COSM192178 CA2924445	787	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA356907118 rs1364615379	788	T>I		No	ClinGen TOPMed
CA2924444 rs374386254	789	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356907114 rs1578132221	789	V>G		No	ClinGen Ensembl
CA2924443 rs374386254	789	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777472312 CA2924441	791	R>G		No	ClinGen ExAC TOPMed gnomAD
rs758102038 COSM1430214 CA2924440	791	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs777472312 CA2924442	791	R>W		No	ClinGen ExAC TOPMed gnomAD
CA356907043 rs1372947244	792	A>V		No	ClinGen gnomAD
rs200147160 COSM94565 CA2924422	793	N>S	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs747827262 CA356907013	795	G>A		No	ClinGen ExAC TOPMed gnomAD
rs747827262 CA2924420	795	G>E		No	ClinGen ExAC TOPMed gnomAD
rs564385300 CA2924421	795	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1378386737 CA356906994	797	L>V		No	ClinGen TOPMed
rs1435943380 CA356906956	799	T>I		No	ClinGen gnomAD
rs995912345 CA96892723	800	G>V		No	ClinGen TOPMed
CA356906934 rs1157468436	801	Y>*		No	ClinGen gnomAD
rs1418852610 CA356906915	803	S>T		No	ClinGen TOPMed gnomAD
rs149212892 CA96892712	805	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149212892 CA2924415	805	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149212892 CA2924416	805	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356906867 rs1186564424	806	M>I		No	ClinGen gnomAD
CA356906876 rs1254835266	806	M>V		No	ClinGen gnomAD
CA2924414 rs751712488	809	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1485995701 CA356906822	809	D>V		No	ClinGen gnomAD
rs995900977 CA96892709	810	E>Q		No	ClinGen TOPMed gnomAD
CA2924413 rs764372658	811	L>I		No	ClinGen ExAC TOPMed gnomAD
rs200045224 CA2924412	813	L>W		No	ClinGen ExAC gnomAD
VAR_042060 CA2924411 rs35603373	814	D>N		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs201191476 CA96892703	815	E>A		No	ClinGen TOPMed
CA356906784 rs1325886977	815	E>D		No	ClinGen gnomAD
rs1442272868 CA356906782	816	H>N		No	ClinGen gnomAD
CA2924409 rs369501886	816	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356906776 rs1292792945	816	H>R		No	ClinGen gnomAD
rs1396871392 CA356906767	817	C>G		No	ClinGen gnomAD
CA2924408 rs777094701	819	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA356906733 rs1015908430	820	L>M		No	ClinGen gnomAD
CA96892690 rs1015908430	820	L>V		No	ClinGen gnomAD
rs1358479219 CA356906680	823	D>V		No	ClinGen TOPMed
rs1047652051 CA96892678	824	A>G		No	ClinGen TOPMed gnomAD
CA2924405 rs368993683	824	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA356906665 rs1415203176	825	S>G		No	ClinGen gnomAD
rs771563961 CA2924403	825	S>N		No	ClinGen ExAC TOPMed gnomAD
CA356906633 rs1258188905	827	W>R		No	ClinGen gnomAD
CA96892672 rs866577501	828	E>K		No	ClinGen Ensembl
CA356906580 rs1242539871	830	P>R		No	ClinGen gnomAD
rs145905001 CA2924401	830	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs145905001 CA2924402	830	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs768465015 CA2924400	832	D>H		No	ClinGen ExAC TOPMed gnomAD
rs768465015 CA356906564	832	D>N		No	ClinGen ExAC TOPMed gnomAD
rs749143449 CA2924399	833	R>Q		No	ClinGen ExAC gnomAD
COSM3940902 rs1224362892 CA356906547	833	R>W	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
CA96892645 rs1139775	835	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs761298513 CA2924383	838	K>R		No	ClinGen ExAC gnomAD
rs140761530 CA2924382	839	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2924378 rs41469552	842	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149901681 CA2924377	842	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2924379 rs41469552	842	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA96892287 rs1139776 VAR_046679	848	V>E	strongly reduced autophosphorylation and kinase activity [UniProt]	No	ClinGen UniProt Ensembl dbSNP
rs781029740 CA2924376	849	I>S		No	ClinGen ExAC gnomAD
CA356906006 rs1353154679	853	A>V		No	ClinGen TOPMed
rs758497778 CA2924375	855	G>R		No	ClinGen ExAC gnomAD
rs1294006744 CA356905971	857	D>N		No	ClinGen TOPMed gnomAD
rs1202865854 CA356905921	861	T>S		No	ClinGen TOPMed
rs755228080 CA2924373	862	C>F		No	ClinGen ExAC gnomAD
CA2924372 rs755228080	862	C>S		No	ClinGen ExAC gnomAD
CA2924370 rs766711473	864	T>R		No	ClinGen ExAC gnomAD
CA356905827 rs1286195883	870	L>S		No	ClinGen TOPMed
rs780022671 CA2924350	873	G>A		No	ClinGen ExAC TOPMed gnomAD
rs780022671 CA96891287	873	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1172794960 CA356905654	874	A>T		No	ClinGen gnomAD
rs1560516206 CA356905635	875	T>S		No	ClinGen Ensembl
rs1334660400 CA356905555	879	H>L		No	ClinGen TOPMed gnomAD
CA2924349 rs368407075	880	R>L		No	ClinGen ExAC TOPMed gnomAD
CA96891274 rs368407075	880	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1382449101 CA356905493	883	M>T		No	ClinGen gnomAD
rs757736333 CA2924348	887	K>E		No	ClinGen ExAC gnomAD
rs757736333 CA96891257	887	K>Q		No	ClinGen ExAC gnomAD
CA2924347 rs371597053	888	I>F		No	ClinGen ESP ExAC gnomAD
rs1458003612 CA356905370	890	I>V		No	ClinGen gnomAD
rs587778426 RCV000121299 CA160321	892	I>V		No	ClinGen ClinVar Ensembl dbSNP
CA96891212 rs987815688	893	G>R		No	ClinGen TOPMed gnomAD
CA96891196 rs763673357	894	H>P		No	ClinGen ExAC gnomAD
rs763673357 CA2924346	894	H>R		No	ClinGen ExAC gnomAD
CA356905293 rs1427460930	894	H>Y		No	ClinGen gnomAD
rs1238564374 CA356905258	896	L>I		No	ClinGen gnomAD
rs1190176904 CA356905245	897	N>S		No	ClinGen gnomAD
CA2924343 rs765037083	900	N>H		No	ClinGen ExAC gnomAD
CA356905182 rs1209741730	904	A>T		No	ClinGen gnomAD
CA2924342 rs759313869	906	T>S		No	ClinGen ExAC gnomAD
CA96891155 rs200773668	907	K>N		No	ClinGen Ensembl
rs1269561545 CA356905141	908	P>S		No	ClinGen gnomAD
CA356904924 rs1272441576	910	G>A		No	ClinGen TOPMed
rs776290748 CA2924341	910	G>W		No	ClinGen ExAC gnomAD
rs764912489 CA2924326	911	P>S		No	ClinGen ExAC gnomAD
CA2924323 rs140228618 RCV000861318	915	I>V		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1169737993 CA356904870	917	E>D		No	ClinGen gnomAD
rs1396414578 CA356904876	917	E>Q		No	ClinGen gnomAD
rs1451741463 CA356904862	918	F>L		No	ClinGen TOPMed gnomAD
CA96890740 rs1016306373	920	K>Q		No	ClinGen TOPMed
CA2924322 rs374360261	920	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA356904843 rs1265636325	921	F>S		No	ClinGen TOPMed
CA2924321 rs773123092	927	Y>H		No	ClinGen ExAC gnomAD
CA356904794 rs1355087765	929	R>K		No	ClinGen gnomAD
CA356904785 rs762955301	930	S>I		No	ClinGen ExAC gnomAD
CA2924319 rs762955301	930	S>N		No	ClinGen ExAC gnomAD
CA2924318 rs775579807	931	K>Q		No	ClinGen ExAC gnomAD
rs770009278 CA2924317	935	F>C		No	ClinGen ExAC TOPMed gnomAD
rs1560515937 CA356904743	936	V>F		No	ClinGen Ensembl
rs746055466 CA2924316	938	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA356904726 rs1344205647	939	K>E		No	ClinGen gnomAD
rs776950924 CA2924315	939	K>R		No	ClinGen ExAC gnomAD
rs773739287 CA2924293	940	T>I		No	ClinGen ExAC gnomAD
rs748637684 CA2924291	942	G>R		No	ClinGen ExAC gnomAD
rs374755237 CA356904681	944	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1056139 rs374755237 CA2924289	944	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2924288 rs371148535	946	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3780305 CA2924287 rs140041720	946	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
VAR_046680 rs13129474 CA2924284	952	V>I		No	ClinGen UniProt ESP ExAC dbSNP gnomAD
CA356904624 rs1473255990	953	G>R		No	ClinGen gnomAD
rs757083292 CA2924283	954	A>T		No	ClinGen ExAC gnomAD
rs560132579 CA2924282	954	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1239038856 CA356904610	955	I>M		No	ClinGen gnomAD
CA2924281 rs201830601	955	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1560515736 CA356904604	956	P>L		No	ClinGen Ensembl
rs776774741 CA356904602	957	V>L		No	ClinGen ExAC TOPMed gnomAD
rs776774741 CA2924279	957	V>M		No	ClinGen ExAC TOPMed gnomAD
rs199904772 CA2924277	961	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2924278 COSM213169 rs530419081	961	R>W	central_nervous_system breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1312670638 CA356904572	962	R>C		No	ClinGen gnomAD
COSM327103 rs1229432573 CA356904571	962	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA2924276 rs544842346	963	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762329111 CA2924274	963	L>S		No	ClinGen ExAC gnomAD
rs1434745794 CA356904557	964	D>E		No	ClinGen gnomAD
rs1387474736 CA356904555	965	S>G		No	ClinGen gnomAD
rs774666756 CA2924273	965	S>N		No	ClinGen ExAC gnomAD
rs1358845613 CA356904547	966	I>V		No	ClinGen TOPMed
CA2924272 rs769212771	967	T>S		No	ClinGen ExAC gnomAD
CA2924271 rs748708773	968	S>N		No	ClinGen ExAC gnomAD
CA96890014 rs868853292	973	A>T		No	ClinGen gnomAD
rs1048710278 CA96890006	974	S>C		No	ClinGen gnomAD
rs565322828 CA2924269	979	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1378451349 CA356904450	980	E>G		No	ClinGen TOPMed
rs953919088 CA96889975	982	S>C		No	ClinGen TOPMed gnomAD
CA96889964 rs931465705	985	D>G		No	ClinGen TOPMed
rs1467283293 CA356904408	986	V>A		No	ClinGen TOPMed gnomAD
CA2924267 rs780889750	987	E>K		No	ClinGen ExAC TOPMed gnomAD
CA96889945 rs897282597	990	E>K		No	ClinGen Ensembl
rs757030397 CA2924266	991	A>S		No	ClinGen ExAC
CA356904356 rs1483707001	992	P>S		No	ClinGen gnomAD
CA2924236 rs751777776	994	D>G		No	ClinGen ExAC gnomAD
rs1000266371 CA96888028	995	L>M		No	ClinGen Ensembl
rs892780242 CA356904315	996	Y>C		No	ClinGen TOPMed gnomAD
CA96888027 rs892780242	996	Y>F		No	ClinGen TOPMed gnomAD
COSM1567305 rs764489577 CA2924235	997	K>E	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs776050844 CA2924233	999	F>L		No	ClinGen ExAC gnomAD
CA356904272 rs1313563950	1000	L>Q		No	ClinGen gnomAD
rs1041785569 CA96887983	1002	L>F		No	ClinGen TOPMed
CA96887988 rs904148903	1002	L>S		No	ClinGen Ensembl
CA96887974 rs151189348	1004	H>N		No	ClinGen ESP TOPMed
rs1384002932 CA356904209	1006	I>T		No	ClinGen TOPMed
rs201783414 CA2924228	1017	E>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2924226 rs780764266 COSM1430208	1022	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA356903655 rs1418275337	1024	C>Y		No	ClinGen TOPMed
CA96883178 COSM1131108 rs767542615	1032	R>*	large_intestine central_nervous_system prostate haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated Ensembl
CA356903535 COSM192176 rs1190050670	1032	R>Q	large_intestine skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs148668147 COSM1211807 CA2924209	1037	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA356903399 rs774311648	1040	N>K		No	ClinGen ExAC TOPMed gnomAD
CA2924205 rs768623213	1041	V>E		No	ClinGen ExAC gnomAD
CA96883144 rs922679946 COSM39124	1041	V>M	central_nervous_system haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed
CA356903381 rs1398271512	1042	V>I		No	ClinGen TOPMed
rs1190064889 CA356903279 COSM481344	1051	R>Q	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
CA2924203 rs780209077	1051	R>W		No	ClinGen ExAC TOPMed gnomAD
CA356903260 rs1362717733	1053	I>V		No	ClinGen gnomAD
COSM327838 CA96883116 rs867547352	1057	P>S	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs747071259 CA2924201	1059	Y>C		No	ClinGen ExAC gnomAD
CA96883083 rs763517390	1063	G>E		No	ClinGen Ensembl
rs139868970 CA2924200	1064	D>N		No	ClinGen ESP ExAC gnomAD
rs56302315 CA2924178 VAR_042061	1065	A>T		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs757722266 COSM3301530 CA96882874	1066	R>C	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA2924177 rs754208569	1066	R>H		No	ClinGen ExAC gnomAD
rs895270961 CA96882850	1068	P>S		No	ClinGen Ensembl
CA2924175 rs756605099	1070	K>R		No	ClinGen ExAC TOPMed
CA356902743 rs1436824102	1072	M>I		No	ClinGen TOPMed
CA356902726 rs1246835008	1073	A>G		No	ClinGen gnomAD
CA356902677 rs1174279988	1076	T>I		No	ClinGen TOPMed
CA96882812 rs1053991007	1079	D>E		No	ClinGen Ensembl
CA2924174 rs547143040	1081	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA2924173 rs766907085	1084	I>S		No	ClinGen ExAC gnomAD
rs761483205 CA2924172	1085	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA356902486 rs149373186	1087	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763851452 CA2924170	1088	V>I		No	ClinGen ExAC TOPMed gnomAD
CA96882742 rs868047715	1100	S>F		No	ClinGen Ensembl
CA2924151 rs752442885	1103	A>S		No	ClinGen ExAC gnomAD
rs1449125938 CA356902151	1103	A>V		No	ClinGen gnomAD
CA2924150 rs138424770	1104	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA96882605 rs867604735	1105	P>L		No	ClinGen Ensembl
CA356902039 rs1485911944	1111	I>V		No	ClinGen Ensembl
rs759438535 CA2924149	1114	E>Q		No	ClinGen ExAC gnomAD
rs999160762 CA96882568	1117	R>G		No	ClinGen TOPMed
rs373654225 CA2924148 COSM1430205	1118	R>*	large_intestine central_nervous_system [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA2924147 rs560674167	1118	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA96882504 rs267600190	1119	L>F		No	ClinGen TOPMed gnomAD
rs1159245817 CA356901887	1121	E>Q		No	ClinGen gnomAD
CA2924146 rs761843453	1123	T>A		No	ClinGen ExAC gnomAD
CA2924145 rs374457339	1123	T>N		No	ClinGen ESP ExAC gnomAD
rs374457339 CA96882493	1123	T>S		No	ClinGen ESP ExAC gnomAD
rs1380184007 CA356901816	1125	M>T		No	ClinGen TOPMed
CA356901823 rs1181081913	1125	M>V		No	ClinGen gnomAD
rs1245238227 CA356901779	1127	A>D		No	ClinGen TOPMed gnomAD
CA356901736 rs1268910399	1131	T>A		No	ClinGen gnomAD
rs1268910399 CA356901737	1131	T>P		No	ClinGen gnomAD
rs777679428 CA96882467	1132	T>A		No	ClinGen gnomAD
rs192975612 CA2924141	1133	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2924118 rs757964768	1136	Y>C		No	ClinGen ExAC gnomAD
rs1030650141 CA96882098	1136	Y>N		No	ClinGen Ensembl
rs1295786497 CA356901598	1138	T>A		No	ClinGen gnomAD
CA356901591 rs1383447776	1138	T>I		No	ClinGen gnomAD
rs754684490 CA2924116	1144	H>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1430203 rs776671822 CA2924114	1145	G>R	lung large_intestine skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM1430203 CA2924113 rs776671822	1145	G>R	lung large_intestine skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs145854690 CA2924112	1146	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs121917766 CA356901489	1147	P>A		No	ClinGen ExAC TOPMed gnomAD
CA2924110 rs376432705	1149	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA356901432 rs1172747200	1152	T>A		No	ClinGen gnomAD
CA2924109 rs373562441	1152	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373562441 COSM1430202 CA2924108	1152	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1560513716 CA356901373	1157	V>L		No	ClinGen Ensembl
CA2924105 rs771413759	1162	N>T		No	ClinGen ExAC TOPMed gnomAD
CA2924103 rs747565731	1164	L>F		No	ClinGen ExAC gnomAD
CA356901313 rs1312704512	1166	A>T		No	ClinGen TOPMed
rs778467494 CA2924101	1167	N>S		No	ClinGen ExAC gnomAD
rs1300072747 CA356901293	1169	Q>*		No	ClinGen gnomAD
CA356901286 rs1223520968	1170	Q>E		No	ClinGen gnomAD
rs146738218 CA356901261	1171	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356901267 rs890866273	1171	D>N		No	ClinGen gnomAD
CA96881198 rs890866273	1171	D>Y		No	ClinGen gnomAD
rs1336263639 CA356901242	1174	D>G		No	ClinGen gnomAD
CA2924090 rs754095453	1178	L>F		No	ClinGen ExAC
CA356900855 rs1308888714	1179	P>L		No	ClinGen gnomAD
CA2924086 rs143459233	1180	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA356900845 rs1321944827	1180	I>M		No	ClinGen TOPMed
rs760114131 CA2924085	1180	I>T		No	ClinGen ExAC TOPMed gnomAD
CA96881168 rs143459233	1180	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1471060943 CA356900840	1181	S>P		No	ClinGen gnomAD
rs1214526243 CA356900829	1182	E>Q		No	ClinGen TOPMed
rs774791565 CA2924083	1188	E>G		No	ClinGen ExAC TOPMed gnomAD
CA2924082 rs768199268	1189	D>E		No	ClinGen ExAC gnomAD
CA356900697 rs1256566758	1193	S>F		No	ClinGen TOPMed
rs748810441 CA2924081	1195	P>L		No	ClinGen ExAC TOPMed gnomAD
CA356900680 rs748810441	1195	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1414877352 CA356900666	1197	S>P		No	ClinGen TOPMed
rs779617216 CA2924080	1200	S>P		No	ClinGen ExAC gnomAD
CA2924079 rs769469885	1201	C>R		No	ClinGen ExAC gnomAD
rs1042670223 CA96881086	1202	M>I		No	ClinGen TOPMed
rs868172841 CA96881090	1202	M>T		No	ClinGen Ensembl
rs145493938 CA2924077	1202	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2924076 rs538723560	1203	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA356900575 rs1365571238	1206	E>*		No	ClinGen TOPMed
CA96881052 rs894012405	1206	E>G		No	ClinGen TOPMed
rs1242386488 CA356900566	1207	V>E		No	ClinGen TOPMed gnomAD
CA96881041 rs940258117	1208	C>R		No	ClinGen Ensembl
rs11540507 CA96881036	1210	P>A		No	ClinGen TOPMed gnomAD
CA356900545 rs1560513283 COSM48460	1210	P>L	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
CA2924072 rs755024874	1212	F>L		No	ClinGen ExAC gnomAD
rs867819358 CA96881033	1213	H>Y		No	ClinGen Ensembl
CA356900505 rs1319974707	1216	N>D		No	ClinGen gnomAD
rs200996447 CA2924071	1216	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356900496 rs1387804198	1217	T>I		No	ClinGen gnomAD
CA356900489 rs1161935979	1218	A>G		No	ClinGen gnomAD
rs1269466300 CA356899794	1222	Q>H		No	ClinGen TOPMed
rs1215427030 CA356899772	1223	Y>F		No	ClinGen gnomAD
rs1273220442 CA356899762	1224	L>Q		No	ClinGen TOPMed gnomAD
rs767647176 CA2924048	1225	Q>K		No	ClinGen ExAC gnomAD
rs757575555 CA2924047	1226	N>D		No	ClinGen ExAC gnomAD
rs751902659 CA2924046	1226	N>K		No	ClinGen ExAC gnomAD
CA2924044 rs763426023	1229	R>*		No	ClinGen ExAC gnomAD
CA2924043 rs776015468	1229	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs759104314 COSM4135812 CA2924041	1230	K>N	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1479794991 CA356899598	1231	S>R		No	ClinGen gnomAD
CA2924038 rs368229220	1232	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2924039 rs368229220	1232	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs185368292 CA2924040	1232	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1471556503 CA356899583	1233	P>T		No	ClinGen gnomAD
CA356899574 rs1457048123	1234	V>M		No	ClinGen TOPMed
CA2924035 rs748096654	1235	S>C		No	ClinGen ExAC gnomAD
CA2924034 rs377109088	1235	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA356899472 rs1319864675	1239	F>S		No	ClinGen TOPMed
CA356899453 rs1362907976	1240	E>A		No	ClinGen TOPMed
CA2924033 rs568921825	1241	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1324417258 CA356899422	1242	I>V		No	ClinGen gnomAD
CA2924032 rs150847930 COSM108688	1243	P>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1285248181 CA356899406	1243	P>S		No	ClinGen gnomAD
CA356899380 rs1444745513	1245	E>A		No	ClinGen TOPMed gnomAD
CA2924029 rs751858962	1245	E>D		No	ClinGen ExAC gnomAD
rs1242969500 CA356899384	1245	E>Q		No	ClinGen TOPMed
rs778078301 CA2924028	1247	P>S		No	ClinGen ExAC gnomAD
rs150116423 CA2924027	1251	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA96877559 rs111307973	1252	I>N		No	ClinGen TOPMed
CA356899289 rs1266813459	1253	P>R		No	ClinGen TOPMed
CA2924026 rs142120845	1253	P>S		No	ClinGen ESP ExAC
CA2924025 rs765747186	1254	D>H		No	ClinGen ExAC gnomAD
rs758699792 CA2924008	1256	N>D		No	ClinGen ExAC gnomAD
rs147627339 CA2924007	1258	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs971421002 CA96877176	1259	D>H		No	ClinGen Ensembl
rs367734604 CA2924005	1260	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1320427957 CA356899104	1262	M>I		No	ClinGen gnomAD
CA356899110 rs1218614308	1262	M>R		No	ClinGen gnomAD
CA2924003 rs765804235	1264	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1247088567 CA356899082	1265	A>P		No	ClinGen gnomAD
rs760292296 CA2924002	1266	S>P		No	ClinGen ExAC gnomAD
rs188899219 CA2924001	1267	E>*		No	ClinGen 1000Genomes ExAC gnomAD
rs587778427 RCV000121301 CA160323	1270	K>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA356899022 rs1288930961	1271	T>P		No	ClinGen gnomAD
CA356899010 rs768623501	1272	L>F		No	ClinGen ExAC TOPMed gnomAD
rs145291918 CA2923999	1272	L>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs762771653 CA356899009	1273	E>*		No	ClinGen ExAC gnomAD
rs762771653 CA2923997	1273	E>Q		No	ClinGen ExAC gnomAD
rs770899593 CA2923995	1274	D>E		No	ClinGen ExAC gnomAD
rs775562121 CA2923996	1274	D>G		No	ClinGen ExAC gnomAD
CA356898983 rs1428115414	1276	T>I		No	ClinGen gnomAD
CA2923994 rs747121988	1276	T>P		No	ClinGen ExAC TOPMed gnomAD
CA356898977 rs1420386006	1277	K>E		No	ClinGen TOPMed gnomAD
COSM1310139 rs1001071878 CA356898959	1279	S>F	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1001071878 CA96877118	1279	S>Y		No	ClinGen TOPMed gnomAD
CA356898949 rs1268727800	1281	S>Y		No	ClinGen gnomAD
CA356898934 rs1490930990	1283	G>A		No	ClinGen gnomAD
rs188653929 CA2923968	1286	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA96876174 rs188653929	1286	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2923966 rs746430096	1290	S>N		No	ClinGen ExAC gnomAD
CA2923965 rs780820996	1294	V>A		No	ClinGen ExAC gnomAD
rs751241917 CA356898823	1298	G>A		No	ClinGen ExAC TOPMed gnomAD
CA2923963 rs751241917	1298	G>D		No	ClinGen ExAC TOPMed gnomAD
CA356898821 rs1420013030	1299	S>T		No	ClinGen gnomAD
rs758059171 CA2923961	1300	N>S		No	ClinGen ExAC gnomAD
rs758059171 CA356898813	1300	N>T		No	ClinGen ExAC gnomAD
CA96876129 rs929720067	1303	S>N		No	ClinGen TOPMed gnomAD
rs758952853 CA2923960 COSM98912	1304	G>C	lung stomach [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs758952853 CA2923959	1304	G>S		No	ClinGen ExAC TOPMed gnomAD
CA356898779 rs1325604194	1305	Y>F		No	ClinGen gnomAD
CA356898774 rs1351872119	1306	Q>*		No	ClinGen gnomAD
rs1391380389 CA356898769	1306	Q>H		No	ClinGen TOPMed
rs761896566 COSM1567306 CA2923955	1308	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1243160272 CA356898735	1312	D>N		No	ClinGen Ensembl
rs763179429 CA2923952	1313	D>G		No	ClinGen ExAC TOPMed gnomAD
rs151242590 CA2923953	1313	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA356898681 rs530823779	1316	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs530823779 CA2923950	1316	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377287206 CA2923949	1317	T>I		No	ClinGen ESP ExAC gnomAD
rs770504400 CA2923947	1318	V>L		No	ClinGen ExAC gnomAD
rs758090721 CA2923944	1320	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1442394693 CA356898641	1321	S>C		No	ClinGen gnomAD
rs778737297 CA2923943	1326	L>F		No	ClinGen ExAC gnomAD
rs778737297 CA2923942	1326	L>I		No	ClinGen ExAC gnomAD
CA96876062 rs947602162	1327	L>*		No	ClinGen Ensembl
rs777554839 CA2923937	1330	I>*		No	ClinGen ExAC gnomAD
CA2923940 rs142258660	1330	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2923938 rs142258660	1330	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1394705115 CA356898523	1330	I>M		No	ClinGen TOPMed
CA2923939 rs142258660	1330	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1204534386 CA356898512	1331	E>D		No	ClinGen TOPMed gnomAD
rs1351307524 CA356898485	1334	V>L		No	ClinGen TOPMed gnomAD
CA356898444 rs763206832	1337	G>D		No	ClinGen ExAC TOPMed gnomAD
CA2923935 rs764132797	1337	G>S		No	ClinGen ExAC TOPMed gnomAD
CA2923934 rs763206832	1337	G>V		No	ClinGen ExAC TOPMed gnomAD
CA356898419 COSM587602 rs1315952875	1339	T>K	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs775644461 CA356898416	1340	A>P		No	ClinGen ExAC gnomAD
CA2923933 rs775644461	1340	A>T		No	ClinGen ExAC gnomAD
rs144265910 CA2923932	1340	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA96876039 rs944040191	1342	I>T		No	ClinGen TOPMed
CA356898386 rs1383334001	1343	L>F		No	ClinGen gnomAD
COSM94563 rs759990302 CA2923931	1344	Q>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA96876030 rs1139777	1347	S>T		No	ClinGen Ensembl
CA2923929 rs771593658	1348	G>E		No	ClinGen ExAC gnomAD
CA356898317 rs1316766290	1349	T>S		No	ClinGen gnomAD
CA356898303 rs1163870470	1351	L>M		No	ClinGen gnomAD
CA96876009 rs974790018	1352	S>R		No	ClinGen TOPMed
CA356898285 rs1287197336	1352	S>T		No	ClinGen gnomAD
rs1473561441 CA356898277	1353	S>P		No	ClinGen gnomAD
rs1473561441 CA356898278	1353	S>T		No	ClinGen gnomAD
rs371990058 CA2923928	1353	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs777314963 CA2923927	1354	P>S		No	ClinGen ExAC gnomAD
CA2923926 rs747831962	1355	P>A		No	ClinGen ExAC gnomAD
rs1560510770 CA356898243	1355	P>L		No	ClinGen Ensembl
CA2923925 rs747831962	1355	P>S		No	ClinGen ExAC gnomAD
rs149590065 CA2923923	1356	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD

2 associated diseases with P35968

[MIM: 602089]: Hemangioma, capillary infantile (HCI)

A condition characterized by dull red, firm, dome-shaped hemangiomas, sharply demarcated from surrounding skin, usually presenting at birth or occurring within the first two or three months of life. They result from highly proliferative, localized growth of capillary endothelium and generally undergo regression and involution without scarring. {ECO:0000269|PubMed:11807987, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:18931684}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Without disease ID

A condition characterized by dull red, firm, dome-shaped hemangiomas, sharply demarcated from surrounding skin, usually presenting at birth or occurring within the first two or three months of life. They result from highly proliferative, localized growth of capillary endothelium and generally undergo regression and involution without scarring. {ECO:0000269|PubMed:11807987, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:18931684}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

26 regional properties for P35968

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	834 - 1162	IPR000719
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	834 - 1160	IPR001245
conserved_site	Tyrosine-protein kinase, receptor class III, conserved site	893 - 906	IPR001824
domain	Immunoglobulin subtype 2	237 - 314	IPR003598-1
domain	Immunoglobulin subtype 2	343 - 405	IPR003598-2
domain	Immunoglobulin subtype 2	436 - 537	IPR003598-3
domain	Immunoglobulin subtype 2	562 - 649	IPR003598-4
domain	Immunoglobulin subtype 2	679 - 744	IPR003598-5
domain	Immunoglobulin subtype	38 - 119	IPR003599-1
domain	Immunoglobulin subtype	135 - 218	IPR003599-2
domain	Immunoglobulin subtype	231 - 325	IPR003599-3
domain	Immunoglobulin subtype	337 - 418	IPR003599-4
domain	Immunoglobulin subtype	430 - 548	IPR003599-5
domain	Immunoglobulin subtype	556 - 662	IPR003599-6
domain	Immunoglobulin subtype	673 - 755	IPR003599-7
domain	Immunoglobulin-like domain	224 - 320	IPR007110-1
domain	Immunoglobulin-like domain	328 - 414	IPR007110-2
domain	Immunoglobulin-like domain	421 - 548	IPR007110-3
domain	Immunoglobulin-like domain	551 - 660	IPR007110-4
domain	Immunoglobulin-like domain	667 - 739	IPR007110-5
active_site	Tyrosine-protein kinase, active site	1024 - 1036	IPR008266
domain	Immunoglobulin I-set	340 - 410	IPR013098-1
domain	Immunoglobulin I-set	667 - 750	IPR013098-2
binding_site	Protein kinase, ATP binding site	840 - 868	IPR017441
domain	Tyrosine-protein kinase, catalytic domain	834 - 1160	IPR020635
domain	VEGFR-2, transmembrane domain	759 - 793	IPR041348

Functions

		Description
EC Number	2.7.10.1	Protein-tyrosine kinases
Subcellular Localization	Cell junction Endoplasmic reticulum Cell membrane	Localized with RAP1A at cell-cell junctions (By similarity) Colocalizes with ERN1 and XBP1 in the endoplasmic reticulum in endothelial cells in a vascular endothelial growth factor (VEGF)-dependent manner (PubMed:23529610)
PANTHER Family	PTHR24416	TYROSINE-PROTEIN KINASE RECEPTOR
PANTHER Subfamily	PTHR24416:SF45	VASCULAR ENDOTHELIAL GROWTH FACTOR RECEPTOR 2
PANTHER Protein Class	transmembrane signal receptor
PANTHER Pathway Category	Angiogenesis VEGFR-2 VEGF signaling pathway VEGFR-2

13 GO annotations of cellular component

Name	Definition
cell junction	A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
early endosome	A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endosome	A vacuole to which materials ingested by endocytosis are delivered.
external side of plasma membrane	The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
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.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
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.
membrane raft	Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
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.
sorting endosome	A multivesicular body surrounded by and connected with multiple tubular compartments with associated vesicles.

11 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
growth factor binding	Binding to a growth factor, proteins or polypeptides that stimulate a cell or organism to grow or proliferate.
Hsp90 protein binding	Binding to Hsp90 proteins, any of a group of heat shock proteins around 90kDa in size.
identical protein binding	Binding to an identical protein or proteins.
integrin binding	Binding to an integrin.
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.
protein tyrosine kinase activity	Catalysis of the reaction: 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 binding	Binding to a vascular endothelial growth factor.
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.

59 GO annotations of biological process

Name	Definition
angiogenesis	Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
branching involved in blood vessel morphogenesis	The process of coordinated growth and sprouting of blood vessels giving rise to the organized vascular system.
calcium ion homeostasis	Any process involved in the maintenance of an internal steady state of calcium ions within an organism or cell.
calcium-mediated signaling using intracellular calcium source	The series of molecular signals in which a cell uses calcium ions released from an intracellular store to convert a signal into a response.
cell fate commitment	The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field.
cell maturation	A developmental process, independent of morphogenetic (shape) change, that is required for a cell to attain its fully functional state.
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.
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.
cellular response to hydrogen sulfide	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 hydrogen sulfide stimulus.
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 hemopoiesis	The stages of blood cell formation that take place within the embryo.
endocardium development	The process whose specific outcome is the progression of the endocardium over time, from its formation to the mature structure. The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers.
endothelial cell differentiation	The process in which a mesodermal, bone marrow or neural crest cell acquires specialized features of an endothelial cell, a thin flattened cell. A layer of such cells lines the inside surfaces of body cavities, blood vessels, and lymph vessels, making up the endothelium.
endothelium development	The process whose specific outcome is the progression of an endothelium over time, from its formation to the mature structure. Endothelium refers to the layer of cells lining blood vessels, lymphatics, the heart, and serous cavities, and is derived from bone marrow or mesoderm. Corneal endothelium is a special case, derived from neural crest cells.
ERK1 and ERK2 cascade	An intracellular protein kinase cascade containing at least ERK1 or ERK2 (MAPKs), a MEK (a MAPKK) and a MAP3K. The cascade may involve 4 different kinases, as it can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell.
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.
lung alveolus development	The process whose specific outcome is the progression of the alveolus over time, from its formation to the mature structure. The alveolus is a sac for holding air in the lungs; formed by the terminal dilation of air passageways.
lymph vessel development	The process whose specific outcome is the progression of a lymph vessel over time, from its formation to the mature structure.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of endothelial cell apoptotic process	Any process that stops, prevents or reduces the frequency, rate or extent of endothelial cell apoptotic process.
negative regulation of gene expression	Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
ovarian follicle development	The process whose specific outcome is the progression of the ovarian follicle over time, from its formation to the mature structure.
peptidyl-tyrosine autophosphorylation	The phosphorylation by a protein of one or more of its own tyrosine amino acid residues, or a tyrosine residue on an identical protein.
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 blood vessel endothelial cell migration	Any process that activates or increases the frequency, rate or extent of the migration of the endothelial cells of blood vessels.
positive regulation of BMP signaling pathway	Any process that activates or increases the frequency, rate or extent of BMP signaling pathway activity.
positive regulation of cell migration	Any process that activates or increases the frequency, rate or extent of cell migration.
positive regulation of cell migration involved in sprouting angiogenesis	Any process that increases the frequency, rate or extent of cell migration involved in sprouting angiogenesis. Cell migration involved in sprouting angiogenesis is the orderly movement of endothelial cells into the extracellular matrix in order to form new blood vessels contributing to the process of sprouting angiogenesis.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway	The series of molecular signals initiated by the binding of a vascular endothelial growth factor (VEGF) to its receptor on the surface of a cell, which activates or increases the frequency, rate or extent of endothelial cell chemotaxis.
positive regulation of endothelial cell migration	Any process that increases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium.
positive regulation of endothelial cell proliferation	Any process that activates or increases the rate or extent of endothelial cell proliferation.
positive regulation of ERK1 and ERK2 cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
positive regulation of focal adhesion assembly	Any process that activates or increases the frequency, rate or extent of focal adhesion assembly, the establishment and maturation of focal adhesions.
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 macroautophagy	Any process, such as recognition of nutrient depletion, that activates or increases the rate of macroautophagy to bring cytosolic macromolecules to the vacuole/lysosome for degradation.
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 mesenchymal cell proliferation	The process of activating or increasing the rate or extent of mesenchymal cell proliferation. Mesenchymal cells are loosely organized embryonic cells.
positive regulation of mitochondrial depolarization	Any process that activates, maintains or increases the frequency, rate or extent of the change in the membrane potential of the mitochondria from negative to positive.
positive regulation of mitochondrial fission	Any process that increases the rate, frequency or extent of mitochondrial fission. Mitochondrial fission is the division of a mitochondrion within a cell to form two or more separate mitochondrial compartments.
positive regulation of nitric-oxide synthase biosynthetic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of a nitric oxide synthase enzyme.
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 positive chemotaxis	Any process that activates or increases the frequency, rate or extent of the directed movement of a motile cell or organism towards a higher concentration in a concentration gradient of a specific chemical.
positive regulation of protein phosphorylation	Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.
positive regulation of vasculogenesis	Any process that activates or increases the frequency, rate or extent of vasculogenesis.
post-embryonic camera-type eye morphogenesis	The process in which the anatomical structures of the eye are generated and organized during post-embryonic development.
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).
protein kinase B signaling	A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound.
regulation of bone development	Any process that modulates the frequency, rate or extent of bone development.
regulation of cell shape	Any process that modulates the surface configuration of a cell.
regulation of hematopoietic progenitor cell differentiation	Any process that modulates the frequency, rate or extent of hematopoietic progenitor cell differentiation.
surfactant homeostasis	Any process involved in the maintenance of a steady-state level of the surface-active lipoprotein mixture which coats the alveoli.
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-2 signaling pathway	The series of molecular signals initiated by a ligand binding to a vascular endothelial growth factor receptor-2 (VEGFR-2) on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
vascular endothelial growth factor signaling pathway	The series of molecular signals initiated by vascular endothelial growth factor (VEGF) binding its receptor on the surface of the target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
vascular wound healing	Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels and contribute to the series of events that restore integrity to damaged vasculature.
vasculogenesis	The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes.

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
Q8QHL3	FLT1	Vascular endothelial growth factor receptor 1	Gallus gallus (Chicken)	SS
P18461	FGFR2	Fibroblast growth factor receptor 2	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
P17948	FLT1	Vascular endothelial growth factor receptor 1	Homo sapiens (Human)	SS
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
P35969	Flt1	Vascular endothelial growth factor receptor 1	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
P21803	Fgfr2	Fibroblast growth factor receptor 2	Mus musculus (Mouse)	SS
P26618	Pdgfra	Platelet-derived growth factor receptor alpha	Mus musculus (Mouse)	SS
P35918	Kdr	Vascular endothelial growth factor receptor 2	Mus musculus (Mouse)	PR
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
P53767	Flt1	Vascular endothelial growth factor receptor 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
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
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
Q5GIT4	kdr	Vascular endothelial growth factor receptor 2	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MQSKVLLAVA	LWLCVETRAA	SVGLPSVSLD	LPRLSIQKDI	LTIKANTTLQ	ITCRGQRDLD
70	80	90	100	110	120
WLWPNNQSGS	EQRVEVTECS	DGLFCKTLTI	PKVIGNDTGA	YKCFYRETDL	ASVIYVYVQD
130	140	150	160	170	180
YRSPFIASVS	DQHGVVYITE	NKNKTVVIPC	LGSISNLNVS	LCARYPEKRF	VPDGNRISWD
190	200	210	220	230	240
SKKGFTIPSY	MISYAGMVFC	EAKINDESYQ	SIMYIVVVVG	YRIYDVVLSP	SHGIELSVGE
250	260	270	280	290	300
KLVLNCTART	ELNVGIDFNW	EYPSSKHQHK	KLVNRDLKTQ	SGSEMKKFLS	TLTIDGVTRS
310	320	330	340	350	360
DQGLYTCAAS	SGLMTKKNST	FVRVHEKPFV	AFGSGMESLV	EATVGERVRI	PAKYLGYPPP
370	380	390	400	410	420
EIKWYKNGIP	LESNHTIKAG	HVLTIMEVSE	RDTGNYTVIL	TNPISKEKQS	HVVSLVVYVP
430	440	450	460	470	480
PQIGEKSLIS	PVDSYQYGTT	QTLTCTVYAI	PPPHHIHWYW	QLEEECANEP	SQAVSVTNPY
490	500	510	520	530	540
PCEEWRSVED	FQGGNKIEVN	KNQFALIEGK	NKTVSTLVIQ	AANVSALYKC	EAVNKVGRGE
550	560	570	580	590	600
RVISFHVTRG	PEITLQPDMQ	PTEQESVSLW	CTADRSTFEN	LTWYKLGPQP	LPIHVGELPT
610	620	630	640	650	660
PVCKNLDTLW	KLNATMFSNS	TNDILIMELK	NASLQDQGDY	VCLAQDRKTK	KRHCVVRQLT
670	680	690	700	710	720
VLERVAPTIT	GNLENQTTSI	GESIEVSCTA	SGNPPPQIMW	FKDNETLVED	SGIVLKDGNR
730	740	750	760	770	780
NLTIRRVRKE	DEGLYTCQAC	SVLGCAKVEA	FFIIEGAQEK	TNLEIIILVG	TAVIAMFFWL
790	800	810	820	830	840
LLVIILRTVK	RANGGELKTG	YLSIVMDPDE	LPLDEHCERL	PYDASKWEFP	RDRLKLGKPL
850	860	870	880	890	900
GRGAFGQVIE	ADAFGIDKTA	TCRTVAVKML	KEGATHSEHR	ALMSELKILI	HIGHHLNVVN
910	920	930	940	950	960
LLGACTKPGG	PLMVIVEFCK	FGNLSTYLRS	KRNEFVPYKT	KGARFRQGKD	YVGAIPVDLK
970	980	990	1000	1010	1020
RRLDSITSSQ	SSASSGFVEE	KSLSDVEEEE	APEDLYKDFL	TLEHLICYSF	QVAKGMEFLA
1030	1040	1050	1060	1070	1080
SRKCIHRDLA	ARNILLSEKN	VVKICDFGLA	RDIYKDPDYV	RKGDARLPLK	WMAPETIFDR
1090	1100	1110	1120	1130	1140
VYTIQSDVWS	FGVLLWEIFS	LGASPYPGVK	IDEEFCRRLK	EGTRMRAPDY	TTPEMYQTML
1150	1160	1170	1180	1190	1200
DCWHGEPSQR	PTFSELVEHL	GNLLQANAQQ	DGKDYIVLPI	SETLSMEEDS	GLSLPTSPVS
1210	1220	1230	1240	1250	1260
CMEEEEVCDP	KFHYDNTAGI	SQYLQNSKRK	SRPVSVKTFE	DIPLEEPEVK	VIPDDNQTDS
1270	1280	1290	1300	1310	1320
GMVLASEELK	TLEDRTKLSP	SFGGMVPSKS	RESVASEGSN	QTSGYQSGYH	SDDTDTTVYS
1330	1340	1350
SEEAELLKLI	EIGVQTGSTA	QILQPDSGTT	LSSPPV