AiPD: Autoinhibited Protein Database

P51805

Gene name	PLXNA3 (PLXN4, SEX)
Protein name	Plexin-A3
Names	Plexin-4, Semaphorin receptor SEX
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55558
EC number
Protein Class

Descriptions

Plexin cell surface receptors bind to semaphorin ligands and transduce signals for regulating neuronal axon guidance. In mouse Plexin-A3 (P70208), the autoinhibitory regions including an Rho GTPase-binding domain (RBD) and a segment preceding C1 domain make extensive interactions with the GAP domain (C1 and C2 domains), which may enable it to regulate the GAP conformation in response to semaphorin binding.

Autoinhibitory domains (AIDs)

35-469 (Sema domain) SS

Target domain	1293-1841 (Plexin, RasGAP domain)
Relief mechanism	Partner binding
Assay

AID

35-469 (Sema domain)

Target domain

1293-1841 (Plexin, RasGAP domain)

Relief mechanism

Partner binding (Semaphorin-induced dimerization)

Assay

1324-1449 (Segment preceding C1 domain) SS

Target domain	1293-1841 (Plexin, RasGAP domain)
Relief mechanism
Assay

AID

1324-1449 (Segment preceding C1 domain)

Target domain

1293-1841 (Plexin, RasGAP domain)

Relief mechanism

Assay

1651-1871 (RBD domain) SS

Target domain	1293-1841 (Plexin, RasGAP domain)
Relief mechanism	Partner binding
Assay

AID

1651-1871 (RBD domain)

Target domain

1293-1841 (Plexin, RasGAP domain)

Relief mechanism

Partner binding (Binding of Rho-family GTPase (Rac1 or Rnd1) in their GTP-bound active form to the RBD)

Assay

Accessory elements

No accessory elements

References

He H et al. (2009) "Crystal structure of the plexin A3 intracellular region reveals an autoinhibited conformation through active site sequestration", Proceedings of the National Academy of Sciences of the United States of America, 106, 15610-5

Takahashi T et al. (2001) "Plexina1 autoinhibition by the plexin sema domain", Neuron, 29, 429-39

Wang Y et al. (2012) "Plexins are GTPase-activating proteins for Rap and are activated by induced dimerization", Science signaling, 5, ra6

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

Autoinhibited structure

Activated structure

1 structures for P51805

Entry ID	Method	Resolution	Chain	Position	Source
AF-P51805-F1	Predicted				AlphaFoldDB

1228 variants for P51805

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000477925 CA10563627 rs149367480	72	E>K	Autistic disorder [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001374685 rs782774035 CA10563664	108	R>C	Hypogonadotropic hypogonadism [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs200042650 CA210448 RCV000202331	616	R>Q	Childhood-Onset Schizophrenia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs782528486 CA10564242 RCV001262953	668	H>D	Neurodevelopmental disorder [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs150035406 CA10564796 RCV001374683	1359	R>C	Hypogonadotropic hypogonadism [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA10563562 rs782218651	2	P>L		No	ClinGen ExAC TOPMed gnomAD
rs912596332 CA337309764	2	P>T		No	ClinGen Ensembl
rs1426027299 CA415225416	3	S>C		No	ClinGen TOPMed
rs782283977 CA10563565	7	L>F		No	ClinGen ExAC TOPMed gnomAD
rs782283977 CA10563566	7	L>I		No	ClinGen ExAC TOPMed gnomAD
rs1201109512 CA415225487	10	L>F		No	ClinGen TOPMed
rs782125563 CA10563571	13	A>D		No	ClinGen ExAC TOPMed gnomAD
rs781950701 CA10563570	13	A>S		No	ClinGen ExAC gnomAD
rs782125563 CA10563572	13	A>V		No	ClinGen ExAC TOPMed gnomAD
CA10563574 COSM1466826 rs782271984	14	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA415225542 rs1043167831	15	G>R		No	ClinGen TOPMed
CA415225548 rs1283291781	15	G>V		No	ClinGen TOPMed
CA337309880 rs1043167831	15	G>W		No	ClinGen TOPMed
rs782784290 CA10563581	16	G>E		No	ClinGen ExAC gnomAD
CA415225566 rs1391731317	17	A>G		No	ClinGen TOPMed gnomAD
CA415225563 rs1557203190	17	A>S		No	ClinGen gnomAD
CA415225568 rs1391731317	17	A>V		No	ClinGen TOPMed gnomAD
CA415225574 rs1329081202	18	L>P		No	ClinGen TOPMed
rs1557203195 CA415225571	18	L>V		No	ClinGen gnomAD
CA10563584 rs202070666	19	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA10563583 rs200617248	19	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782185732 CA10563585	20	N>S		No	ClinGen ExAC gnomAD
rs1557203207 CA415225618	22	P>H		No	ClinGen gnomAD
CA10563586 rs782432583	22	P>S		No	ClinGen ExAC gnomAD
CA10563588 rs782215325	24	R>C		No	ClinGen ExAC TOPMed gnomAD
CA415225638 rs782215325	24	R>G		No	ClinGen ExAC TOPMed gnomAD
rs149878050 CA10563589 RCV000894389	24	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA337309996 rs149048914	27	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1315361 CA10563591 rs149048914	27	V>M	urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs995344595 CA337309997	29	T>A		No	ClinGen TOPMed
rs782733882 CA337309998	29	T>R		No	ClinGen Ensembl
CA337309999 rs1026852450	30	D>E		No	ClinGen Ensembl
rs1557203227 CA415225753	31	T>A		No	ClinGen gnomAD
CA415225764 rs1278961596	31	T>N		No	ClinGen TOPMed gnomAD
rs1278961596 CA415225763	31	T>S		No	ClinGen TOPMed gnomAD
rs144427846 CA10563592	32	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1342315849 CA415225795	34	T>N		No	ClinGen TOPMed gnomAD
rs1342315849 CA415225792	34	T>S		No	ClinGen TOPMed gnomAD
CA415225823 rs1557203239	35	H>Q		No	ClinGen gnomAD
CA415225843 rs868987554	37	A>T		No	ClinGen Ensembl
rs782737285 CA10563595	38	V>L		No	ClinGen ExAC gnomAD
CA415225858 rs1379045228	39	H>Y		No	ClinGen TOPMed gnomAD
rs782808493 CA10563598	40	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10563597 rs782122729	40	R>W		No	ClinGen ExAC TOPMed gnomAD
CA415225895 rs782698823	42	T>A		No	ClinGen ExAC TOPMed gnomAD
CA10563601 rs782698823	42	T>S		No	ClinGen ExAC TOPMed gnomAD
rs782472371 CA10563603	43	G>V		No	ClinGen ExAC gnomAD
rs781844352 CA10563604	45	V>M		No	ClinGen ExAC TOPMed gnomAD
rs782551566 CA10563606	47	V>M		No	ClinGen ExAC gnomAD
CA415226038 rs1178391824	49	A>S		No	ClinGen TOPMed gnomAD
CA415226047 rs1178391824	49	A>T		No	ClinGen TOPMed gnomAD
rs371637463 CA415226101	52	R>L		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs371637463 CA337310071	52	R>Q		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA415226177 rs1237660233	56	L>V		No	ClinGen TOPMed gnomAD
CA415226189 rs1211753765	57	A>D		No	ClinGen TOPMed gnomAD
CA415226195 rs1211753765	57	A>V		No	ClinGen TOPMed gnomAD
CA337310083 rs147019078	58	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA337310089 rs968909046	58	P>R		No	ClinGen TOPMed
RCV000953409 CA10563611 rs147019078	58	P>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10563612 rs782379622	59	N>K		No	ClinGen ExAC gnomAD
CA415226232 rs1216716492	60	L>V		No	ClinGen TOPMed gnomAD
rs148057826 CA10563613	61	T>S		No	ClinGen ESP ExAC gnomAD
rs375016163 CA337310108	62	E>D		No	ClinGen gnomAD
CA10563614 rs782145636	62	E>K		No	ClinGen ExAC gnomAD
rs140961230 CA10563615	63	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA10563618 rs782718396	64	R>Q		No	ClinGen ExAC gnomAD
CA10563617 rs150180614 COSM3424627	64	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA10563620 rs782118070	66	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA337310181 rs949073541	68	T>A		No	ClinGen TOPMed gnomAD
CA10563621 rs782812379	68	T>M		No	ClinGen ExAC TOPMed gnomAD
CA10563625 rs782741799	71	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs782302397 CA10563628	72	E>A		No	ClinGen ExAC gnomAD
rs782302397 CA415226440	72	E>G		No	ClinGen ExAC gnomAD
rs138443015 CA415226526	75	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA10563630 rs138443015	75	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10563631 rs199861985	76	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA415226544 rs1180496539	76	R>H		No	ClinGen TOPMed gnomAD
rs1471570011 CA415226583	78	Y>H		No	ClinGen TOPMed
CA10563632 rs782350039	79	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1557203359 CA415226610	79	P>S		No	ClinGen gnomAD
rs782124070 CA415226627	80	P>A		No	ClinGen ExAC TOPMed gnomAD
rs782124070 CA10563634	80	P>S		No	ClinGen ExAC TOPMed gnomAD
rs782124070 CA415226623	80	P>T		No	ClinGen ExAC TOPMed gnomAD
rs371800667 CA10563635	81	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1557203378 CA415226655	81	P>R		No	ClinGen gnomAD
rs371800667 CA415226646	81	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10563636 rs142949704	82	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1557203384 CA415226714	83	M>I		No	ClinGen gnomAD
COSM1625709 rs782148734 CA10563637	84	R>C	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs782701104 CA10563638 COSM1466828	84	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1557203393 CA415226782	85	V>A		No	ClinGen gnomAD
CA337310330 rs782262919	85	V>M		No	ClinGen gnomAD
rs1557203399 CA415226848	87	A>T		No	ClinGen gnomAD
CA10563643 rs782552156	88	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs968688350 CA337310345	88	H>Y		No	ClinGen Ensembl
CA415226934 rs1297686048	89	R>C		No	ClinGen TOPMed gnomAD
CA10563644 RCV000901880 COSM3694452 rs148785068	89	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1557203416 CA415226971	90	L>Q		No	ClinGen gnomAD
CA10563647 rs142516376	91	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA337310381 rs782403004	91	A>T		No	ClinGen gnomAD
CA10563646 rs142516376	91	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA415227008 rs782035047	92	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1557203438 CA415227024	92	P>L		No	ClinGen gnomAD
CA10563650 rs782035047	92	P>S		No	ClinGen ExAC TOPMed gnomAD
rs782035047 CA10563649	92	P>T		No	ClinGen ExAC TOPMed gnomAD
CA415227035 rs782400956	93	V>L		No	ClinGen ExAC TOPMed gnomAD
CA10563652 rs782400956	93	V>M		No	ClinGen ExAC TOPMed gnomAD
rs781921744 CA10563653	95	N>S		No	ClinGen ExAC gnomAD
CA415227145 rs1557203452	97	N>D		No	ClinGen gnomAD
rs375434909 CA10563655	98	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA337310482 rs949147044	99	L>V		No	ClinGen gnomAD
CA415227218 rs1603389485	100	L>V		No	ClinGen Ensembl
rs782007327 CA10563656	101	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1557203471 CA415227325	103	D>E		No	ClinGen gnomAD
rs144336050 CA10563658	105	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1320932109 CA415227385	106	A>S		No	ClinGen TOPMed
CA10563661 rs147793684	107	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA415227415 rs147793684	107	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000901485 rs139705497 COSM1118040 CA10563662	107	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA415227466 rs1557203505	108	R>H		No	ClinGen gnomAD
rs1557203509 CA415227600	113	G>S		No	ClinGen gnomAD
rs145231103 CA337310580	114	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145231103 CA415227638	114	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145231103 CA10563666	114	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1557203528 CA415227712	116	W>C		No	ClinGen gnomAD
rs1292343849 CA415227710	116	W>S		No	ClinGen TOPMed
CA415227774 rs1401433188	118	G>D		No	ClinGen TOPMed gnomAD
CA10563668 rs201273244	119	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA415227832 rs1557203540	121	Q>E		No	ClinGen gnomAD
rs1466799799 CA415227856	122	F>L		No	ClinGen TOPMed gnomAD
rs782602470 CA10563670	124	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10563671 COSM3390525 rs201164440	124	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs145093878 CA10563672	125	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA10563674 rs782278332	127	D>N		No	ClinGen ExAC TOPMed gnomAD
rs782328308 CA10563675	127	D>V		No	ClinGen ExAC gnomAD
CA415227962 rs782278332	127	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1010317383 CA337310701	128	L>V		No	ClinGen Ensembl
CA415228045 rs1488128306	130	K>E		No	ClinGen TOPMed gnomAD
CA415228036 rs1488128306	130	K>Q		No	ClinGen TOPMed gnomAD
rs1569554045 CA415228091	133	E>K		No	ClinGen Ensembl
CA10563678 rs782319558	134	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781974707 CA10563680	135	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781974707 CA415228141	135	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA415228139 rs1557203572	135	H>R		No	ClinGen gnomAD
CA10563681 rs143244763	137	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10563682 rs781885592	137	R>H		No	ClinGen ExAC TOPMed gnomAD
CA10563683 rs781885592	137	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1557203593 CA415228216	138	K>N		No	ClinGen gnomAD
rs1311909465 CA415228198	138	K>Q		No	ClinGen TOPMed
CA10563685 rs781823667	143	S>L		No	ClinGen ExAC TOPMed gnomAD
rs372936004 CA10563687	144	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1466257504 CA415228445	145	A>D		No	ClinGen TOPMed gnomAD
CA415228428 rs1557203606	145	A>T		No	ClinGen TOPMed gnomAD
CA415228462 rs1466257504	145	A>V		No	ClinGen TOPMed gnomAD
CA10563688 rs781984974	146	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
CA415228475 rs1360340387	146	Q>P		No	ClinGen TOPMed gnomAD
rs782541515 CA415229784	148	P>A		No	ClinGen ExAC gnomAD
CA10563689 rs782541515	148	P>S		No	ClinGen ExAC gnomAD
CA10563692 rs782350920	149	D>G		No	ClinGen ExAC TOPMed gnomAD
rs782182647 CA10563691	149	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1557203633 CA415229814	150	S>A		No	ClinGen gnomAD
CA415229831 rs1437647251	151	M>V		No	ClinGen TOPMed gnomAD
CA337310819 rs962183673	152	A>S		No	ClinGen Ensembl
CA10563694 rs782254662	153	G>A		No	ClinGen ExAC TOPMed gnomAD
rs782147776 CA10563697	157	E>Q		No	ClinGen ExAC gnomAD
CA415230001 rs1484373667	159	G>R		No	ClinGen TOPMed
rs1557203652 CA415230026	160	Q>R		No	ClinGen gnomAD
CA10563701 rs782793795	162	P>R		No	ClinGen ExAC gnomAD
rs782081978 CA10563700	162	P>S		No	ClinGen ExAC gnomAD
CA415230083 rs1557203664	163	S>R		No	ClinGen gnomAD
CA415230104 rs1254255002	164	K>R		No	ClinGen TOPMed
CA10563702 rs781857218	165	L>V		No	ClinGen ExAC TOPMed gnomAD
CA10563704 rs782801285	167	V>L		No	ClinGen ExAC gnomAD
rs781814996 CA10563705	169	T>S		No	ClinGen ExAC TOPMed gnomAD
CA10563708 rs781811365	172	D>G		No	ClinGen ExAC TOPMed gnomAD
CA10563707 rs181269464 COSM1744133	172	D>N	biliary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1557203693 CA415230211	173	G>D		No	ClinGen gnomAD
CA10563710 rs145737831	173	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA415230220 rs1300564278	174	K>N		No	ClinGen TOPMed
CA10563712 rs138319096	175	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1041357399 CA337310905	175	S>P		No	ClinGen Ensembl
CA10563713 rs782403559	176	E>*		No	ClinGen ExAC gnomAD
CA415230239 rs782403559	176	E>Q		No	ClinGen ExAC gnomAD
CA10563714 rs782584409	180	T>S		No	ClinGen ExAC TOPMed gnomAD
CA10563717 rs782000330 COSM1262562	184	R>C	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs782116978 CA10563718	186	L>V		No	ClinGen ExAC gnomAD
rs782420554 CA10563719	187	I>V		No	ClinGen ExAC gnomAD
CA415230364 rs1557203741	188	S>G		No	ClinGen gnomAD
CA415230374 rs1557203743	189	D>N		No	ClinGen gnomAD
CA10563721 rs782074183	191	D>G		No	ClinGen ExAC gnomAD
rs142962002 CA10563720	191	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10563726 rs200421034	193	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs371203817 CA10563724	193	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA10563723 rs371203817	193	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10563725 rs200421034	193	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA10563728 rs782782688	195	M>V		No	ClinGen ExAC gnomAD
CA10563730 rs781804006	196	F>L		No	ClinGen ExAC gnomAD
rs781804006 CA415230450	196	F>L		No	ClinGen ExAC gnomAD
CA10563731 rs782463423	197	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1557203982 CA415230534	199	V>L		No	ClinGen gnomAD
CA415230563 rs1557203995	201	Q>H		No	ClinGen gnomAD
rs1557204004 CA415230603	205	V>M		No	ClinGen gnomAD
rs1557204011 CA415230632	208	Q>*		No	ClinGen gnomAD
rs1474034633 CA415230638 COSM1118042	208	Q>H	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1557204011 CA415230629	208	Q>K		No	ClinGen gnomAD
CA415230650 rs782767005	209	I>M		No	ClinGen ExAC TOPMed gnomAD
CA415230678 rs1240346517	212	P>L		No	ClinGen TOPMed
COSM1466829 CA10563770 rs781828247	215	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA10563772 rs782625294	216	L>V		No	ClinGen ExAC TOPMed gnomAD
rs369159707 CA10563776	221	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1569554120 CA415230799	223	D>E		No	ClinGen Ensembl
rs138953016 CA10563779	225	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA415230819 rs1557204047	225	Y>S		No	ClinGen gnomAD
CA415230825 rs1557204051	226	Y>H		No	ClinGen gnomAD
rs782421333 CA10563780	227	I>V		No	ClinGen ExAC gnomAD
CA10563783 rs149423704	229	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA10563782 rs149423704	229	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA415230878 rs1557204071	230	F>S		No	ClinGen gnomAD
CA337311589 rs782060714	231	V>G		No	ClinGen TOPMed gnomAD
rs782778301 CA10563786	231	V>I		No	ClinGen ExAC TOPMed gnomAD
rs199780412 CA10563788	233	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1557204094 CA415230916	234	S>A		No	ClinGen gnomAD
rs1557204107 CA415230930	235	F>S		No	ClinGen gnomAD
CA415230937 COSM457117 rs1185806765	236	V>M	breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA10563790 rs373466863	240	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
RCV001091836 rs1569554133	241	L>missing		No	ClinVar dbSNP
CA337311635 rs929279500	243	L>V		No	ClinGen TOPMed gnomAD
rs1557204140 CA415231030	244	D>G		No	ClinGen Ensembl
CA10563794 rs782529923	245	T>I		No	ClinGen ExAC gnomAD
CA415231045 rs1557204149	246	Q>E		No	ClinGen gnomAD
CA10563796 rs377431210	247	Q>H		No	ClinGen ESP ExAC gnomAD
CA10563797 rs200019038	248	T>M		No	ClinGen ExAC TOPMed gnomAD
rs782235424 CA10563799	249	L>V		No	ClinGen ExAC gnomAD
CA415231099 rs1301703115	251	D>H		No	ClinGen TOPMed gnomAD
CA415231101 rs1301703115	251	D>Y		No	ClinGen TOPMed gnomAD
CA10563801 rs147390702	253	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10563804 COSM3844100 rs782020864	255	E>K	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA415231146 rs782020864	255	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA10563807 rs370210706	259	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs370210706 CA10563806	259	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA10563812 rs782086557	263	V>M		No	ClinGen ExAC gnomAD
CA415231244 rs1557204207 COSM3034351	264	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA415231252 rs1557204214	265	M>V		No	ClinGen gnomAD
CA10563816 rs145244142	267	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10563817 rs782726215	267	A>V		No	ClinGen ExAC gnomAD
CA10563819 rs782482997	268	G>E		No	ClinGen ExAC gnomAD
rs1557204240 CA415231276	268	G>R		No	ClinGen gnomAD
rs782257997 CA10563821	271	E>A		No	ClinGen ExAC gnomAD
rs782496060 CA10563822	272	F>L		No	ClinGen ExAC gnomAD
rs1557204253 CA415231335	273	Y>C		No	ClinGen gnomAD
rs374335521 CA10563825	276	V>A		No	ClinGen ESP ExAC gnomAD
CA10563824 rs139636745	276	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA415231385 rs1557204266	278	F>L		No	ClinGen gnomAD
CA415231404 rs1233985152	279	P>R		No	ClinGen TOPMed
CA415231398 rs1557204271	279	P>S		No	ClinGen gnomAD
rs200788481 CA10563826	280	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA415231418 rs1370809652	281	G>A		No	ClinGen TOPMed gnomAD
rs782347596 CA415231413	281	G>C		No	ClinGen ExAC TOPMed gnomAD
rs782347596 CA10563828	281	G>S		No	ClinGen ExAC TOPMed gnomAD
CA415231442 rs782807216	283	S>C		No	ClinGen ExAC TOPMed gnomAD
CA10563831 rs782807216	283	S>F		No	ClinGen ExAC TOPMed gnomAD
CA10563830 rs782118245	283	S>P		No	ClinGen ExAC gnomAD
rs781931954 CA415231459	285	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10563832 rs781931954	285	R>G		No	ClinGen ExAC TOPMed gnomAD
CA10563833 rs782047256	285	R>H		No	ClinGen ExAC TOPMed gnomAD
CA10563835 rs376086499 COSM1466830	286	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA10563838 rs781899215	287	V>A		No	ClinGen ExAC TOPMed gnomAD
rs781899215 CA415231474	287	V>E		No	ClinGen ExAC TOPMed gnomAD
CA10563837 rs370403729	287	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA415231479 rs1557204335	288	E>Q		No	ClinGen gnomAD
CA10563841 rs781795304	290	R>C		No	ClinGen ExAC TOPMed gnomAD
rs199534433 CA10563842	290	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA415231525 rs1557204347	292	V>E		No	ClinGen gnomAD
CA10563844 rs782266922	292	V>L		No	ClinGen ExAC gnomAD
rs782666016 CA10563846	293	Q>H		No	ClinGen ExAC gnomAD
CA415231543 rs1557204348	294	S>G		No	ClinGen gnomAD
rs782304768 CA10563848	295	A>T		No	ClinGen ExAC gnomAD
rs782075901 CA10563850	298	A>G		No	ClinGen ExAC gnomAD
CA415231596 rs1310557335	299	K>Q		No	ClinGen TOPMed
CA10563851 rs368403392	300	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1557204378 CA415231676	306	Q>E		No	ClinGen gnomAD
rs781812398 CA10563855	306	Q>R		No	ClinGen ExAC gnomAD
rs782055426 CA10563856	307	A>D		No	ClinGen ExAC gnomAD
CA10563857 rs782741816	308	L>V		No	ClinGen ExAC gnomAD
rs1361165625 CA415231714	309	G>S		No	ClinGen TOPMed
rs146580781 CA10563860	310	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10563862 rs782455704	311	P>L		No	ClinGen ExAC TOPMed gnomAD
CA10563864 rs782229837	312	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1415678008 CA415231804	313	D>E		No	ClinGen TOPMed
CA415231807 rs1557204425	314	E>*		No	ClinGen gnomAD
rs782339011 CA10563865	314	E>A		No	ClinGen ExAC gnomAD
CA415231846 rs184056478	315	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200063870 CA10563867	316	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA415231867 rs1557204442	317	L>V		No	ClinGen gnomAD
CA415231906 rs1485723054	319	T>I		No	ClinGen TOPMed gnomAD
CA415231929 rs1244993789	320	I>M		No	ClinGen TOPMed
CA10563869 rs782408788	320	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA415231948 rs143354413	321	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1232213530 CA415231959	322	S>C		No	ClinGen TOPMed
rs1341031141 CA415231965	323	Q>E		No	ClinGen TOPMed gnomAD
CA415231979 rs1557204456	323	Q>R		No	ClinGen gnomAD
CA415232005 rs1557204462	324	G>A		No	ClinGen gnomAD
rs782317018 CA10563871	324	G>S		No	ClinGen ExAC gnomAD
CA10563872 rs781972092	325	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA10563874 rs201318025	328	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs201909015 CA10563873	328	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1293896437 CA415232076	329	A>S		No	ClinGen TOPMed
rs201799797 CA10563875	332	P>A		No	ClinGen ExAC TOPMed gnomAD
rs201799797 CA337312155	332	P>S		No	ClinGen ExAC TOPMed gnomAD
rs200060299 CA415232129	333	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10563878 rs200060299	333	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10563877 rs199954840 COSM1466831	333	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1557204488 CA415232144	334	Q>H		No	ClinGen gnomAD
CA10563880 rs782486191	336	I>M		No	ClinGen ExAC TOPMed gnomAD
CA10563881 rs781866776	339	L>V		No	ClinGen ExAC gnomAD
CA415232218 rs781938991	340	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1557204506 CA415232253	342	L>V		No	ClinGen gnomAD
rs782460522 CA415232320	345	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1557204516 CA415232328	346	N>D		No	ClinGen gnomAD
rs782575094 CA10563886	346	N>S		No	ClinGen ExAC
rs1469524150 CA415232340	347	A>T		No	ClinGen TOPMed
rs782237057 CA10563887	349	I>V		No	ClinGen ExAC gnomAD
CA10563889 rs35285799	350	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10563888 rs150493678	350	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs782245651 CA10563890	351	R>C		No	ClinGen ExAC gnomAD
rs782418480 CA10563891	351	R>H		No	ClinGen ExAC TOPMed gnomAD
rs374629685 CA337312282	352	R>C		No	ClinGen ESP TOPMed
CA10563892 rs782018972	352	R>H		No	ClinGen ExAC TOPMed gnomAD
CA10563894 rs368827077	353	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1002685438 CA337312308	355	S>A		No	ClinGen Ensembl
CA10563896 rs782130581	357	Y>C		No	ClinGen ExAC gnomAD
CA10563897 rs782758307	358	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1557204559 CA415232550	358	R>H		No	ClinGen gnomAD
rs376499905 CA337312337	360	E>D		No	ClinGen ESP TOPMed gnomAD
rs1026408658 CA337312343	361	G>D		No	ClinGen Ensembl
rs782540183 CA10563899	362	T>P		No	ClinGen ExAC gnomAD
CA415232651 rs1325424471	364	A>V		No	ClinGen TOPMed
CA415232657 rs782700145	365	L>V		No	ClinGen ExAC gnomAD
CA337312367 rs984890165	366	P>L		No	ClinGen Ensembl
rs950810527 CA337312366	366	P>S		No	ClinGen TOPMed gnomAD
CA415232670 rs950810527	366	P>T		No	ClinGen TOPMed gnomAD
rs782495627 CA10563902	369	L>P		No	ClinGen ExAC gnomAD
CA415232767 rs1557204599	372	E>D		No	ClinGen gnomAD
rs782607647 CA10563903	372	E>Q		No	ClinGen ExAC gnomAD
RCV000996074 CA415232783 rs1603390323	374	P>L		No	ClinGen ClinVar Ensembl dbSNP
CA10563905 rs782506116	375	C>*		No	ClinGen ExAC gnomAD
rs1378778667 CA415232810	377	N>D		No	ClinGen TOPMed gnomAD
CA415232826 rs1557204609	378	T>S		No	ClinGen gnomAD
CA10563937 rs782800309	380	M>I		No	ClinGen ExAC gnomAD
CA10563936 rs782169665	380	M>K		No	ClinGen ExAC TOPMed gnomAD
CA415232902 rs782169665	380	M>T		No	ClinGen ExAC TOPMed gnomAD
CA415232901 rs1557204889	380	M>V		No	ClinGen gnomAD
rs781808164 CA415232917	381	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA10563938 rs781808164	381	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA415232909 rs1557204895	381	Q>K		No	ClinGen gnomAD
CA415232933 rs1557204902	383	N>D		No	ClinGen gnomAD
CA415232935 rs1557204906	383	N>T		No	ClinGen gnomAD
CA415232950 rs1557204914	384	G>A		No	ClinGen gnomAD
rs34585333 VAR_050595 RCV000917701 CA10563940	384	G>S		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10563942 rs782511043	388	G>A		No	ClinGen ExAC gnomAD
rs200162881 CA337313100	390	V>A		No	ClinGen Ensembl
CA10563945 rs782139450	390	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs782563353 CA10563946	392	N>T		No	ClinGen ExAC gnomAD
rs782239636 CA415233056	393	Q>H		No	ClinGen ExAC gnomAD
CA415233090 rs1484671509	397	G>S		No	ClinGen TOPMed
CA10563949 rs782663009	399	H>L		No	ClinGen ExAC gnomAD
CA415233134 rs1267157373	400	V>G		No	ClinGen TOPMed
rs1270731353 CA415233155	402	E>A		No	ClinGen TOPMed
rs782255132 CA415233161	402	E>D		No	ClinGen TOPMed
rs200444772 CA10563951	402	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200444772 CA10563952	402	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10563953 rs782036831	405	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA415233193 rs1557204958	405	P>H		No	ClinGen gnomAD
rs143491103 CA10563956	409	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1118047 rs143491103 CA10563957	409	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs199501544 CA337313198	412	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199501544 CA10563958	412	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10563961 rs781784553	413	G>A		No	ClinGen ExAC TOPMed gnomAD
CA10563960 rs36115591	413	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000898505 CA10563959 VAR_050596 rs36115591	413	G>S		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10563963 rs148672767	417	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs35700706 CA415233309	419	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000903387 rs35700706 CA10563966	419	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs782276309 CA10563967	419	A>V		No	ClinGen ExAC gnomAD
CA415233333 rs1339955339	421	T>I		No	ClinGen TOPMed
CA415233352 rs1253053338	423	R>C		No	ClinGen TOPMed
CA10563968 rs139368340	423	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs782569097 CA10563969	424	Q>R		No	ClinGen ExAC gnomAD
CA10563971 rs782389629	425	H>R		No	ClinGen ExAC TOPMed gnomAD
rs782212356 CA10563970	425	H>Y		No	ClinGen ExAC TOPMed
rs782288328 CA10563973	427	V>A		No	ClinGen ExAC TOPMed gnomAD
rs782403937 CA10563974	428	V>I		No	ClinGen ExAC gnomAD
CA10563975 rs782403937	428	V>L		No	ClinGen ExAC gnomAD
rs782140917 CA10563979	430	I>M		No	ClinGen ExAC TOPMed
CA10563978 rs781963758	430	I>T		No	ClinGen ExAC gnomAD
CA10563977 rs782738193	430	I>V		No	ClinGen ExAC gnomAD
rs1557205037 CA415233445	432	T>M		No	ClinGen gnomAD
rs200170081 CA10563981	433	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000963411 rs141197316 CA10563982	433	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10563984 rs782817783	434	S>R		No	ClinGen ExAC TOPMed gnomAD
rs149807623 CA10563985	435	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs782269939 CA10563986	436	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA10563987 rs145756790	438	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782647984 CA10564009	440	V>M		No	ClinGen ExAC
CA10564010 rs782247717	441	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1349992966 CA415234519	441	R>W		No	ClinGen TOPMed
CA10564012 rs191903829	443	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1557205482 CA415234599	447	D>N		No	ClinGen gnomAD
CA415234619 rs868936533	448	A>V		No	ClinGen Ensembl
CA415234630 rs1451521446	449	H>Q		No	ClinGen TOPMed
rs782201635 CA10564013	449	H>Y		No	ClinGen ExAC gnomAD
rs148993102 CA10564014	452	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10564015 rs781974500	453	T>I		No	ClinGen ExAC gnomAD
rs782082210 CA10564016	454	V>L		No	ClinGen ExAC TOPMed gnomAD
CA10564018 rs143738443	456	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA415234724 rs1557205502	457	V>A		No	ClinGen gnomAD
rs782149959 CA10564019	457	V>M		No	ClinGen ExAC gnomAD
CA415234732 rs1451608752	458	D>Y		No	ClinGen TOPMed
CA415234782 rs1207799951	461	P>L		No	ClinGen TOPMed
CA415234805 rs1557205519	463	L>F		No	ClinGen gnomAD
CA10564021 rs781783080	463	L>R		No	ClinGen ExAC gnomAD
CA415234812 rs1557205526 COSM1221255	464	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA10564022 rs782093989 COSM379528	464	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA10564024 rs781865019	469	S>R		No	ClinGen ExAC gnomAD
rs782501504 CA10564025	470	P>L		No	ClinGen ExAC TOPMed gnomAD
CA415234902 rs782501504	470	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs782501504 CA415234904	470	P>R		No	ClinGen ExAC TOPMed gnomAD
CA415234915 rs1603391143	471	D>A		No	ClinGen Ensembl
rs781894603 CA10564027	472	H>Y		No	ClinGen ExAC gnomAD
rs138547861 CA10564029	473	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10564028 rs782463498	473	R>W		No	ClinGen ExAC gnomAD
rs375126912 CA10564030	475	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA415235005 rs1603391155	479	S>G		No	ClinGen Ensembl
CA415235007 rs1344845201	479	S>T		No	ClinGen TOPMed gnomAD
rs782347880 CA10564031	480	E>D		No	ClinGen ExAC
CA415235030 rs1603391167	482	Q>R		No	ClinGen Ensembl
CA10564049 rs782671141	487	P>L		No	ClinGen ExAC TOPMed gnomAD
CA415235142 rs1412804037	488	V>L		No	ClinGen TOPMed
rs1557205645 CA415235178	490	T>I		No	ClinGen gnomAD
CA10564051 rs782449636	490	T>S		No	ClinGen ExAC TOPMed gnomAD
CA415235188 rs1557205649	491	C>S		No	ClinGen gnomAD
CA10564052 rs782604040	492	E>Q		No	ClinGen ExAC gnomAD
CA415235214 rs1557205651	493	Q>*		No	ClinGen gnomAD
rs1557205652 CA415235218	493	Q>R		No	ClinGen gnomAD
rs782387794 CA10564054	495	Q>H		No	ClinGen ExAC gnomAD
CA10564053 rs782206383	495	Q>L		No	ClinGen ExAC gnomAD
CA415235247 rs782206383	495	Q>R		No	ClinGen ExAC gnomAD
CA415235267 rs1471929315	496	S>R		No	ClinGen TOPMed gnomAD
CA10564056 rs782302016	498	A>T		No	ClinGen ExAC TOPMed gnomAD
rs782708120 CA10564057	498	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10564058 rs781947433	501	L>V		No	ClinGen ExAC gnomAD
CA415235341 rs1557205681	502	G>A		No	ClinGen gnomAD
CA415235367 rs1557205693	504	G>E		No	ClinGen gnomAD
rs146936092 CA10564060 RCV000898317	504	G>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA415235412 rs1557205695	506	P>L		No	ClinGen gnomAD
rs1557205703 CA415235459	509	G>S		No	ClinGen gnomAD
CA415235507 rs1557205705	511	C>Y		No	ClinGen gnomAD
CA415235521 rs1557205708	512	V>L		No	ClinGen gnomAD
CA10564062 rs375643017	514	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA415235743 rs1557205840	519	R>C		No	ClinGen gnomAD
rs369435958 CA10564089	519	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10564090 rs369435958	519	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10564093 rs372123075	520	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs781946257 CA10564094	521	G>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1055047986 CA337315829	521	G>R		No	ClinGen Ensembl
rs782581796 CA10564095	524	L>V		No	ClinGen ExAC gnomAD
CA10564096 rs782181103	525	G>D		No	ClinGen ExAC gnomAD
rs376423590 CA10564099	526	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs376423590 CA10564098	526	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10564100 rs782364153	526	A>V		No	ClinGen ExAC gnomAD
rs1203280695 CA415235872	527	S>F		No	ClinGen TOPMed
CA415235884 rs369981088	528	A>S		No	ClinGen ESP TOPMed
CA337315911 rs369981088	528	A>T		No	ClinGen ESP TOPMed
CA10564101 rs782028967	529	P>A		No	ClinGen ExAC gnomAD
rs1235451586 CA415235901	529	P>L		No	ClinGen TOPMed gnomAD
CA10564102 rs141619578	530	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs781797741 CA10564104	531	G>S		No	ClinGen ExAC TOPMed gnomAD
CA10564105 rs782360957	535	E>*		No	ClinGen 1000Genomes ExAC gnomAD
rs781953633 CA10564106	535	E>V		No	ClinGen 1000Genomes ExAC gnomAD
CA415236015 rs1557205889	538	K>N		No	ClinGen gnomAD
CA10564107 rs781871470	539	C>R		No	ClinGen ExAC gnomAD
rs1557205892 CA415236024	540	V>I		No	ClinGen gnomAD
CA10564108 RCV000736200 rs782515431	541	Q>H		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000905315 rs150546014 CA10564110	543	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs369262880 COSM3668658 CA10564109	543	R>W	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1395383406 CA415236092	544	V>L		No	ClinGen TOPMed gnomAD
rs201411324 CA10564111	545	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA415236104 rs1557205905	545	R>W		No	ClinGen gnomAD
rs138419530 RCV000901881 CA10564112	547	N>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA415236138 rs1557205916	547	N>K		No	ClinGen gnomAD
CA10564113 rs782215520	547	N>S		No	ClinGen ExAC gnomAD
rs782512921 CA10564114	548	N>S		No	ClinGen ExAC gnomAD
rs782635224 CA10564116	549	V>M		No	ClinGen ExAC TOPMed gnomAD
CA415236187 rs1472909420	551	V>L		No	ClinGen TOPMed gnomAD
rs1472909420 CA415236186	551	V>M		No	ClinGen TOPMed gnomAD
CA415236208 rs1557205928	552	T>M		No	ClinGen TOPMed gnomAD
CA10564119 rs781939183	554	P>L		No	ClinGen ExAC gnomAD
rs1557205938 CA415236248	555	G>E		No	ClinGen gnomAD
CA10564121 rs782366433	556	V>M		No	ClinGen ExAC TOPMed gnomAD
CA415236341 rs1557205987	558	L>M		No	ClinGen Ensembl
rs139434525 CA10564139	560	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782472823 CA10564140	563	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782421628 CA10564143	565	V>M		No	ClinGen ExAC gnomAD
rs782557318 CA415236495	570	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782557318 CA415236498	570	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782557318 CA10564146	570	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA415236518 rs1557206028	572	V>M		No	ClinGen gnomAD
CA10564150 rs781882236	573	S>R		No	ClinGen ExAC TOPMed gnomAD
rs140045266 CA10564151	575	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA415236580 rs1357426105	575	A>V		No	ClinGen TOPMed
CA415236595 rs782711186	576	F>L		No	ClinGen ExAC TOPMed gnomAD
rs781842825 COSM1118048 CA10564153	577	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs781842825 CA415236601	577	E>Q		No	ClinGen ExAC gnomAD
rs142270837 CA415236627	578	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA10564155 rs782650022	578	A>T		No	ClinGen ExAC TOPMed gnomAD
rs142270837 CA10564156	578	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA10564158 rs200281054	579	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10564160 rs782007256	580	A>V		No	ClinGen 1000Genomes ExAC
CA10564163 rs782257060	581	E>A		No	ClinGen ExAC TOPMed gnomAD
CA415236688 rs782257060	581	E>G		No	ClinGen ExAC TOPMed gnomAD
CA10564164 rs782378456	583	E>K		No	ClinGen ExAC TOPMed gnomAD
CA415236757 rs1451333020	584	A>V		No	ClinGen TOPMed gnomAD
CA415236761 rs1557206096	585	V>I		No	ClinGen gnomAD
rs376154383 COSM1262561 CA10564168	590	G>S	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs782103740 CA10564169	595	P>S		No	ClinGen ExAC gnomAD
rs782729139 CA10564170	597	P>L		No	ClinGen ExAC TOPMed gnomAD
CA10564171 rs781879048	598	S>P		No	ClinGen ExAC TOPMed gnomAD
rs782392984 CA10564173	599	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA337316372 rs1020928581	601	E>K		No	ClinGen Ensembl
rs1290499978 CA415237022	603	R>G		No	ClinGen TOPMed
rs184926947 CA10564174	603	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA415237037 rs1557206126	604	A>V		No	ClinGen gnomAD
rs1000735586 CA337316374	606	T>S		No	ClinGen TOPMed gnomAD
rs1267969727 CA415237068	607	R>G		No	ClinGen TOPMed
CA10564175 rs782456402	607	R>K		No	ClinGen ExAC gnomAD
CA415237085 rs1557206140	609	H>Y		No	ClinGen gnomAD
rs1253065001 CA415237124	611	A>T		No	ClinGen TOPMed
rs1557206190 CA415237130	611	A>V		No	ClinGen gnomAD
rs1205429490 CA415237133	612	T>P		No	ClinGen TOPMed
CA415237146 rs781848425	613	R>C		No	ClinGen ExAC TOPMed gnomAD
rs372028579 CA10564195	613	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs781848425 CA10564194	613	R>S		No	ClinGen ExAC TOPMed gnomAD
CA10564196 rs782807131	614	T>A		No	ClinGen ExAC TOPMed gnomAD
CA415237171 rs1285036721	616	R>G		No	ClinGen TOPMed gnomAD
CA415237173 rs1285036721	616	R>W		No	ClinGen TOPMed gnomAD
CA415237211 rs1557206204	620	L>F		No	ClinGen gnomAD
rs1557206206 CA415237227	621	S>F		No	ClinGen gnomAD
CA415237263 rs1557206211	625	G>S		No	ClinGen gnomAD
CA10564201 rs375186286 COSM3363909	626	V>M	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs782407969 CA10564203	629	A>V		No	ClinGen ExAC gnomAD
CA415237319 rs781946606	630	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10564205 rs781946606	630	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1569554403 CA415237337	632	D>H		No	ClinGen Ensembl
rs781994284 CA10564207	634	V>A		No	ClinGen ExAC gnomAD
rs142513042 CA10564210	640	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA10564213 rs782123504	642	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs782123504 CA10564212	642	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1557206248 CA415237457	642	Q>R		No	ClinGen gnomAD
CA10564214 rs201284044	643	S>L		No	ClinGen ExAC TOPMed gnomAD
CA10564230 rs202053669	645	M>T		No	ClinGen ExAC TOPMed gnomAD
CA10564231 rs782344743	649	G>D		No	ClinGen ExAC gnomAD
rs372617580 CA10564232	651	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs782120041 CA10564233	652	Y>H		No	ClinGen ExAC gnomAD
rs782120041 CA415238862	652	Y>N		No	ClinGen ExAC gnomAD
rs1557206357 CA415238873	652	Y>S		No	ClinGen gnomAD
rs139336954 CA10564235 RCV000973066	653	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs976825629 CA337316935	653	P>S		No	ClinGen Ensembl
CA415239029 rs1557206373	658	K>N		No	ClinGen gnomAD
CA415239066 rs1490761563	660	R>C		No	ClinGen TOPMed
rs149034613 COSM462280 CA10564236	660	R>H	cervix [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA415239083 rs1222016029	661	H>D		No	ClinGen TOPMed
rs1343189326 RCV000709913 CA415239115	662	T>M		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA10564238 rs781844192	664	T>A		No	ClinGen ExAC TOPMed gnomAD
rs946142301 CA337316967	665	S>R		No	ClinGen gnomAD
rs781857058 CA10564239	666	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs143007606 CA10564240	666	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs781900926 CA10564241	667	P>S		No	ClinGen ExAC gnomAD
rs148224862 CA10564243	671	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10564244 rs375785479	674	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA415239358 rs1302969041	677	V>A		No	ClinGen TOPMed gnomAD
rs782589387 CA10564246	679	S>N		No	ClinGen ExAC gnomAD
rs1396712160 CA415239413	680	P>L		No	ClinGen TOPMed gnomAD
rs141189623 CA10564247	680	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA415239475 rs1262996895	682	G>S		No	ClinGen TOPMed gnomAD
rs1206257917 CA415239547	686	I>V		No	ClinGen TOPMed
CA10564270 rs782243920	690	G>R		No	ClinGen ExAC gnomAD
rs1557206460 CA415239659	692	L>F		No	ClinGen gnomAD
rs782056412 CA10564273	696	V>A		No	ClinGen ExAC TOPMed gnomAD
rs371215404 CA10564272	696	V>I		No	ClinGen ESP ExAC gnomAD
CA415239734 rs1334850861	697	G>E		No	ClinGen TOPMed
CA10564274 rs782704959	698	V>F		No	ClinGen ExAC TOPMed gnomAD
CA415239763 rs1454078969	699	M>T		No	ClinGen TOPMed
rs781965411 CA10564275	700	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA415239800 rs1557206481	701	P>S		No	ClinGen Ensembl
rs1603391980 CA415239844	703	T>I		No	ClinGen Ensembl
rs782777957 CA10564277	704	L>V		No	ClinGen ExAC gnomAD
rs201083788 CA10564279	705	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1557206498 CA415239915	708	N>Y		No	ClinGen gnomAD
rs782438563 CA10564282	712	P>L		No	ClinGen ExAC gnomAD
rs782221296 CA10564284	714	S>L		No	ClinGen ExAC gnomAD
rs138065609 CA10564287	721	C>W		No	ClinGen ESP ExAC gnomAD
CA10564289 rs781912419	722	V>M		No	ClinGen ExAC TOPMed gnomAD
rs916131286 CA337317210	723	V>M		No	ClinGen Ensembl
rs367770095 CA10564291	724	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs782225043 CA10564290	724	R>W		No	ClinGen ExAC TOPMed gnomAD
CA415240169 rs782114696	728	R>G		No	ClinGen ExAC TOPMed gnomAD
CA10564294 rs782812977	728	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10564293 rs782114696	728	R>W		No	ClinGen ExAC TOPMed gnomAD
COSM125451 rs782064641 CA10564296	731	R>Q	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs782485756 CA10564299	735	V>M		No	ClinGen ExAC gnomAD
rs782784885 CA10564300	736	R>C		No	ClinGen ExAC gnomAD
rs142551428 CA10564302	736	R>H		No	ClinGen ESP ExAC gnomAD
rs142551428 CA10564301	736	R>L		No	ClinGen ESP ExAC gnomAD
CA415240266 rs782579494	737	F>L		No	ClinGen ExAC gnomAD
CA415240278 rs1557206522	739	S>N		No	ClinGen gnomAD
rs1204868003 CA415240299	742	V>M		No	ClinGen TOPMed gnomAD
rs782171287 CA415240327	745	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1360656125 CA415240325	745	Q>R		No	ClinGen TOPMed
CA10564305 rs782478483	747	A>T		No	ClinGen ExAC TOPMed gnomAD
CA415240345 rs782609443	748	S>*		No	ClinGen ExAC TOPMed gnomAD
CA10564306 rs782609443	748	S>L		No	ClinGen ExAC TOPMed gnomAD
CA415240374 rs1221419059	750	S>F		No	ClinGen TOPMed
rs1557206636 CA415240395	753	G>D		No	ClinGen gnomAD
CA415240413 rs1557206638	755	E>D		No	ClinGen Ensembl
CA10564332 rs199982509	756	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1557206639 CA415240418	756	H>R		No	ClinGen gnomAD
CA337317500 rs146044604	760	E>K		No	ClinGen ESP gnomAD
rs375752173 CA10564333	761	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs149353057 CA337317556	766	V>I		No	ClinGen ESP
rs782082500 CA10564337	768	D>N		No	ClinGen ExAC TOPMed gnomAD
CA10564338 rs782770055 COSM1118050	770	D>G	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA415240522 rs144659277	771	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1557206672 CA415240534	773	I>M		No	ClinGen gnomAD
CA10564340 rs371255994	773	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs782810441 CA10564341	777	P>L		No	ClinGen ExAC gnomAD
CA10564343 rs782435784	780	R>*		No	ClinGen ExAC gnomAD
CA337317635 rs1047257591	780	R>Q		No	ClinGen TOPMed
rs56256617 CA337317642	781	A>T		No	ClinGen Ensembl
CA415240617 rs868921254	784	Y>*		No	ClinGen Ensembl
rs1557206722 CA415240629	786	C>G		No	ClinGen gnomAD
CA337317818 rs998664047	788	A>V		No	ClinGen TOPMed gnomAD
CA10564368 COSM1194183 rs782261872	790	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1557206731 CA415240663	791	P>S		No	ClinGen gnomAD
rs782682383 CA10564370	799	A>V		No	ClinGen ExAC gnomAD
CA10564371 rs782279420	801	P>A		No	ClinGen ExAC gnomAD
rs1361679694 CA415240732	801	P>R		No	ClinGen TOPMed
CA337317854 rs957481889	802	R>C		No	ClinGen gnomAD
CA415240739 COSM1466836 rs1557206743	802	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA415240749 rs1557206749	803	F>L		No	ClinGen gnomAD
rs201108569 CA10564372	804	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201108569 CA415240753	804	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1395930486 CA415240774	807	W>*		No	ClinGen TOPMed
CA10564373 rs781919074	808	C>G		No	ClinGen ExAC gnomAD
CA415240786 rs1569554481	808	C>W		No	ClinGen Ensembl
CA10564374 rs373968063	809	I>L		No	ClinGen ESP ExAC gnomAD
CA415240809 rs1363217987	812	H>Y		No	ClinGen TOPMed
CA415240819 rs1557206761	813	R>K		No	ClinGen gnomAD
CA10564377 rs782122667	817	R>Q		No	ClinGen ExAC gnomAD
COSM1165293 rs370420317 CA10564376	817	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs868984553 CA415240852	819	H>N		No	ClinGen Ensembl
rs373686420 CA10564378	819	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs376089205 CA10564379	821	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs376089205 CA415240871	821	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10564380 rs782493125	822	A>S		No	ClinGen ExAC gnomAD
rs1557206778 CA415240876	822	A>V		No	ClinGen gnomAD
CA10564381 rs782731259	823	P>L		No	ClinGen ExAC gnomAD
rs929475680 CA337317963	826	N>S		No	ClinGen Ensembl
CA10564384 rs782758665	828	M>T		No	ClinGen ExAC gnomAD
CA10564385 rs370378164	831	S>T		No	ClinGen ESP ExAC gnomAD
CA337318001 rs147689029	832	Q>K		No	ClinGen ESP
CA415240943 rs1557206804	832	Q>R		No	ClinGen gnomAD
rs1557206807 CA415240965	835	T>N		No	ClinGen gnomAD
CA10564386 rs782537110	836	R>Q		No	ClinGen ExAC gnomAD
CA415240967 rs1569554486	836	R>W		No	ClinGen Ensembl
rs1420057451 CA415240988	838	S>N		No	ClinGen TOPMed
rs782496931 CA10564389	841	R>C		No	ClinGen ExAC TOPMed gnomAD
rs782596274 CA10564390	841	R>H		No	ClinGen ExAC TOPMed gnomAD
rs782373345 CA10564392	844	Q>L		No	ClinGen ExAC gnomAD
CA10564405 rs781827734	846	H>R		No	ClinGen ExAC gnomAD
CA10564404 rs782746373	846	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA415241117 rs1557206859	849	V>G		No	ClinGen gnomAD
rs200544868 CA10564407	849	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200544868 CA10564408	849	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10564411 rs147960153	857	R>L		No	ClinGen ESP ExAC gnomAD
CA10564410 rs147960153	857	R>Q		No	ClinGen ESP ExAC gnomAD
CA10564409 rs371871757	857	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782236993 CA415241225	861	V>L		No	ClinGen ExAC TOPMed gnomAD
rs782236993 COSM1118053 CA10564414	861	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs5945430 VAR_050597 CA337318232	863	E>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA415241305 rs868964336	868	L>F		No	ClinGen gnomAD
CA415241303 rs868964336	868	L>F		No	ClinGen gnomAD
rs368644346 CA415241322	870	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs368644346 CA10564420	870	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10564422 rs781856891	872	V>M		No	ClinGen ExAC
rs782167149 CA415241353	873	G>D		No	ClinGen ExAC TOPMed gnomAD
CA10564423 rs782167149	873	G>V		No	ClinGen ExAC TOPMed gnomAD
rs782794636 CA10564425	874	L>V		No	ClinGen ExAC TOPMed gnomAD
CA415241368 rs371910096	875	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10564427 rs371910096	875	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs782480846 COSM354903 CA10564426	875	R>W	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA415241397 rs782498003	879	V>L		No	ClinGen ExAC TOPMed gnomAD
CA10564429 COSM383694 rs782498003	879	V>M	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1399411033 CA415241406	880	R>C		No	ClinGen TOPMed gnomAD
CA10564430 rs782688882	880	R>H		No	ClinGen ExAC gnomAD
CA337318301 rs951038342	882	N>H		No	ClinGen Ensembl
rs374885337 CA337318324	885	P>L		No	ClinGen ESP TOPMed gnomAD
CA415241470 rs1557206927	886	A>S		No	ClinGen gnomAD
CA10564435 rs782345575	887	E>K		No	ClinGen ExAC TOPMed gnomAD
rs782007417 CA10564436	889	I>L		No	ClinGen ExAC TOPMed gnomAD
rs782007417 CA415241501	889	I>V		No	ClinGen ExAC TOPMed gnomAD
CA10564437 rs782250325	891	A>G		No	ClinGen ExAC gnomAD
CA10564438 rs782428478	892	E>K		No	ClinGen ExAC gnomAD
rs782287371 CA10564454	895	V>M		No	ClinGen ExAC TOPMed gnomAD
rs782633270 CA10564455	897	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA10564456 rs150094168	901	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1054346682 CA337318412	904	P>S		No	ClinGen Ensembl
rs782379214 CA10564458	906	P>L		No	ClinGen ExAC gnomAD
rs1557206988 CA415241712	906	P>S		No	ClinGen gnomAD
CA10564460 rs199852866	907	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201983357 CA10564463	908	P>L		No	ClinGen ExAC TOPMed gnomAD
rs201983357 CA415241736	908	P>R		No	ClinGen ExAC TOPMed gnomAD
rs782131366 CA10564466	911	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1557207022 CA415241806	915	V>A		No	ClinGen gnomAD
rs34653285 CA337318435	920	A>S		No	ClinGen Ensembl
rs782543136 CA10564469	921	D>N		No	ClinGen ExAC TOPMed gnomAD
CA415241890 rs1352330152	922	F>L		No	ClinGen TOPMed
CA10564470 COSM1118054 rs782590505	923	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA415241898 rs782590505	923	R>L		No	ClinGen ExAC TOPMed gnomAD
CA415241934 rs1557207051	926	S>L		No	ClinGen gnomAD
rs1557207058 CA415241959	928	Q>H		No	ClinGen gnomAD
CA10564473 rs375741831	929	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1386940132 CA415242016	933	V>M		No	ClinGen TOPMed
CA10564492 rs781883186	936	T>A		No	ClinGen ExAC TOPMed gnomAD
CA10564493 rs375829543	936	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA415242076 rs781883186	936	T>S		No	ClinGen ExAC TOPMed gnomAD
CA415242133 rs1557207126	941	S>N		No	ClinGen gnomAD
rs145388937 CA10564496	944	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1193337165 CA415242162	944	R>H		No	ClinGen TOPMed gnomAD
rs1193337165 CA415242164	944	R>L		No	ClinGen TOPMed gnomAD
rs782652728 CA10564497	946	P>L		No	ClinGen ExAC gnomAD
COSM1466838 rs782070642 CA10564501	949	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA415242225 rs1557207155	952	R>Q		No	ClinGen gnomAD
CA10564502 COSM256165 rs782319608	952	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1557207159 CA415242244	954	T>S		No	ClinGen gnomAD
rs781979553 CA10564503	962	A>V		No	ClinGen ExAC gnomAD
CA10564504 rs782092450	965	R>G		No	ClinGen ExAC gnomAD
CA415242359 rs1557207174	965	R>K		No	ClinGen gnomAD
CA415242373 rs1345923138	966	V>I		No	ClinGen TOPMed
rs781931747 CA10564505	967	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs74565364 CA337318690	970	V>L		No	ClinGen Ensembl
CA415242443 rs1330564160	973	S>N		No	ClinGen TOPMed
CA10564507 rs201916270	974	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782538859 CA415242570	981	D>A		No	ClinGen ExAC TOPMed gnomAD
CA10564530 rs782538859	981	D>G		No	ClinGen ExAC TOPMed gnomAD
CA10564531 rs782718573	984	A>T		No	ClinGen ExAC gnomAD
rs781795073 CA10564532	984	A>V		No	ClinGen ExAC TOPMed gnomAD
CA10564534 rs782600101	986	V>M		No	ClinGen ExAC gnomAD
CA415242647 rs1603392775	988	I>V		No	ClinGen Ensembl
CA10564536 rs200143039	991	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10564535 rs200143039	991	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10564538 rs782195255	1000	P>L		No	ClinGen ExAC gnomAD
rs1440981115 CA415242800	1003	L>F		No	ClinGen TOPMed
CA415242811 rs1557207257	1004	A>V		No	ClinGen gnomAD
rs1235903086 CA415242835	1006	D>G		No	ClinGen TOPMed
rs1016210300 CA337318827	1007	R>Q		No	ClinGen gnomAD
rs782309256 CA10564539	1007	R>W		No	ClinGen ExAC TOPMed gnomAD
CA415242851 rs1239160354	1008	A>T		No	ClinGen TOPMed
CA10564540 rs376854661	1009	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs782393442 CA10564542	1012	S>C		No	ClinGen ExAC TOPMed gnomAD
rs781983465 CA10564543	1012	S>N		No	ClinGen ExAC gnomAD
rs1557207273 CA415242920 COSM1262559	1014	G>R	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
CA415242932 rs1557207277	1016	I>L		No	ClinGen gnomAD
rs782407095 CA10564545	1016	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1557207291 CA415242963	1020	T>S		No	ClinGen gnomAD
rs782743536 CA10564548	1025	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1301609928 CA415243024	1026	T>A		No	ClinGen TOPMed
CA415243032 rs1447680235	1027	R>C		No	ClinGen TOPMed gnomAD
rs201094369 CA10564550	1027	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201094369 CA415243036	1027	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201094369 CA415243035	1027	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10564552 rs141318662	1034	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1557207399 CA415244258	1044	S>R		No	ClinGen gnomAD
rs1387062753 CA415244279	1047	H>Y		No	ClinGen TOPMed
CA10564566 rs782372293	1050	T>M		No	ClinGen ExAC gnomAD
rs1291237979 CA415244329	1052	Q>R		No	ClinGen TOPMed
CA415244336 rs1557207414	1053	E>K		No	ClinGen gnomAD
CA415244390 rs1557207419	1058	A>V		No	ClinGen gnomAD
rs782169203 CA10564568	1059	K>R		No	ClinGen ExAC gnomAD
rs375290922 CA10564569	1061	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs890633430 CA337319690	1065	T>S		No	ClinGen Ensembl
CA415244470 rs1463850948	1067	N>H		No	ClinGen TOPMed gnomAD
rs1376071291 CA415244586	1074	D>N		No	ClinGen TOPMed
CA415244614 rs1557207487	1076	A>T		No	ClinGen gnomAD
rs1557207488 CA415244618	1076	A>V		No	ClinGen gnomAD
rs1557207496 CA415244654	1081	A>V		No	ClinGen gnomAD
rs781801042 CA10564595	1083	G>S		No	ClinGen ExAC gnomAD
rs782461110 CA415244709	1088	R>G		No	ClinGen ExAC TOPMed gnomAD
CA10564598 rs201224695	1088	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201224695 CA10564597	1088	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782461110 CA10564596	1088	R>W		No	ClinGen ExAC TOPMed gnomAD
CA415244743 rs1557207518	1091	P>L		No	ClinGen gnomAD
rs1557207517 CA415244737	1091	P>S		No	ClinGen gnomAD
rs782513504 CA10564599	1092	R>P		No	ClinGen ExAC gnomAD
COSM1118057 CA337319835 rs782513504	1092	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1557207521 CA415244747	1092	R>W		No	ClinGen gnomAD
rs782660174 CA10564600	1093	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1603393077 CA415244790	1096	E>A		No	ClinGen Ensembl
rs1310874216 CA415244939	1110	T>M		No	ClinGen TOPMed gnomAD
CA415244948 rs1557207556	1111	A>T		No	ClinGen gnomAD
CA415244960 rs1376013141	1112	R>C		No	ClinGen TOPMed gnomAD
rs782007314 CA10564606	1112	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1557207567 CA415244971	1113	S>F		No	ClinGen gnomAD
CA10564608 rs782424275	1114	L>I		No	ClinGen ExAC gnomAD
rs781921290 CA10564609	1116	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10564610 rs782062353	1116	R>H		No	ClinGen ExAC TOPMed gnomAD
CA10564611 rs782062353	1116	R>L		No	ClinGen ExAC TOPMed gnomAD
CA415245008 rs1302481529	1117	S>F		No	ClinGen TOPMed gnomAD
rs868915698 CA415245085	1125	P>S		No	ClinGen Ensembl
rs782109011 CA10564613	1129	P>L		No	ClinGen ExAC gnomAD
rs890737971 CA337319973	1132	P>S		No	ClinGen TOPMed
CA415245183 rs1569554565	1135	V>A		No	ClinGen Ensembl
rs781884770 CA10564615	1135	V>M		No	ClinGen ExAC gnomAD
CA415245186 rs1557207605	1136	L>V		No	ClinGen gnomAD
rs1557207611 CA415245201	1138	V>I		No	ClinGen gnomAD
rs140776875 CA10564618	1139	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA415245215 rs1557207628	1139	K>R		No	ClinGen gnomAD
CA415245226 rs1255948130	1140	P>L		No	ClinGen TOPMed gnomAD
CA415245224 rs1255948130	1140	P>Q		No	ClinGen TOPMed gnomAD
rs1557207645 CA415245291	1147	K>R		No	ClinGen gnomAD
rs1557207700 CA415245354	1150	N>K		No	ClinGen gnomAD
CA10564636 rs368382994	1154	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs782753232 CA10564635	1154	A>T		No	ClinGen ExAC TOPMed gnomAD
CA10564637 rs368382994	1154	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA415245389 rs1557207725	1155	A>T		No	ClinGen gnomAD
CA10564641 rs782584795	1156	A>G		No	ClinGen ExAC gnomAD
rs145800483 CA10564640	1156	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs145800483 CA415245397	1156	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA415245406 rs1172033903	1157	G>R		No	ClinGen TOPMed gnomAD
CA415245404 rs1172033903	1157	G>S		No	ClinGen TOPMed gnomAD
rs782486339 CA10564643	1159	S>T		No	ClinGen ExAC TOPMed
rs782639222 CA10564644	1160	R>C		No	ClinGen ExAC gnomAD
rs375560348 CA10564645	1160	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1557207744 CA415245457	1162	N>I		No	ClinGen gnomAD
rs782413409 CA10564646	1164	T>I		No	ClinGen ExAC gnomAD
CA415245536 rs1569554580	1171	P>R		No	ClinGen Ensembl
rs200093414 CA10564649	1173	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs200093414 CA10564648	1173	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs372624416 CA415245558	1174	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs372624416 CA10564650	1174	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs782122600 CA10564651	1177	S>L		No	ClinGen ExAC gnomAD
CA337320171 rs1011043525	1178	D>E		No	ClinGen Ensembl
rs893978540 CA337320165	1178	D>G		No	ClinGen Ensembl
CA415245627 rs1557207764	1181	L>H		No	ClinGen gnomAD
rs782160781 CA10564654	1182	L>M		No	ClinGen ExAC TOPMed gnomAD
rs781806360 CA415245651	1184	D>H		No	ClinGen ExAC TOPMed gnomAD
CA10564656 rs781806360	1184	D>N		No	ClinGen ExAC TOPMed gnomAD
CA337320189 rs145193117	1185	S>L		No	ClinGen ESP TOPMed
rs374696091 CA10564660	1191	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10564658 rs146456043	1191	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA415245738 rs1557207785	1192	Q>H		No	ClinGen gnomAD
CA10564661 rs782782462	1193	P>S		No	ClinGen ExAC gnomAD
rs1331042912 CA415245762	1195	M>L		No	ClinGen TOPMed
CA415245810 rs1557207812	1196	V>M		No	ClinGen gnomAD
CA10564675 rs781969206	1200	G>S		No	ClinGen ExAC gnomAD
CA415245850 rs1569554589	1201	L>P		No	ClinGen Ensembl
CA10564677 rs782775020	1204	W>R		No	ClinGen ExAC gnomAD
CA415245922 rs1557207823	1208	L>P		No	ClinGen gnomAD
rs782698800 CA10564680	1210	I>F		No	ClinGen ExAC TOPMed gnomAD
CA10564681 rs781800412	1211	S>L		No	ClinGen ExAC TOPMed gnomAD
rs782762047 CA10564683	1214	R>G		No	ClinGen ExAC TOPMed gnomAD
CA10564685 rs782542687	1214	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10564684 rs782762047	1214	R>W		No	ClinGen ExAC TOPMed gnomAD
CA415245981 rs1557207840	1215	A>S		No	ClinGen gnomAD
rs377112858 CA10564686	1215	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs782149636 CA337320365	1217	T>N		No	ClinGen 1000Genomes
rs782448475 CA415246018	1219	P>L		No	ClinGen ExAC TOPMed gnomAD
rs782448475 CA10564688	1219	P>R		No	ClinGen ExAC TOPMed gnomAD
rs782224552 CA10564690	1220	A>T		No	ClinGen ExAC gnomAD
CA415246028 rs1412447818	1221	M>V		No	ClinGen TOPMed gnomAD
CA415246046 rs1557207855	1222	M>T		No	ClinGen gnomAD
CA415246058 rs1374494947	1223	G>A		No	ClinGen TOPMed
rs782333892 CA10564692	1223	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1374494947 CA415246060	1223	G>V		No	ClinGen TOPMed
CA10564693 rs782001830	1225	A>V		No	ClinGen ExAC gnomAD
CA10564696 rs781913185	1226	A>V		No	ClinGen ExAC TOPMed gnomAD
rs781915471 CA337320418	1227	G>A		No	ClinGen 1000Genomes TOPMed gnomAD
CA415246087 rs1557207873	1227	G>R		No	ClinGen gnomAD
rs781915471 CA415246091	1227	G>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs1557207880 CA415246101	1228	G>V		No	ClinGen gnomAD
CA337320421 rs112444185	1232	L>M		No	ClinGen Ensembl
rs1557207891 CA415246136	1233	L>V		No	ClinGen gnomAD
rs377761288 CA337320423	1234	A>T		No	ClinGen ESP gnomAD
rs1557207895 CA415246143	1234	A>V		No	ClinGen gnomAD
rs782131927 CA10564701	1235	I>F		No	ClinGen ExAC TOPMed gnomAD
rs973246085 CA337320431	1235	I>M		No	ClinGen TOPMed
rs782131927 CA10564700	1235	I>V		No	ClinGen ExAC TOPMed gnomAD
rs371220483 CA10564702	1237	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA10564705 rs200880623	1238	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10564704 rs200880623 VAR_083660	1238	V>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA337320448 rs953612591	1241	A>D		No	ClinGen TOPMed gnomAD
rs953612591 CA415246192	1241	A>V		No	ClinGen TOPMed gnomAD
COSM1716151 CA10564708 rs367761143	1244	R>C	small_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA10564709 rs782526213	1244	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1557207921 CA415246231	1247	Q>R		No	ClinGen gnomAD
CA415246248 rs1557207929	1249	A>V		No	ClinGen gnomAD
rs782594539 CA10564713	1251	R>C		No	ClinGen ExAC gnomAD
CA337320522 rs782141827	1251	R>H		No	ClinGen gnomAD
CA415246266 rs1557207937	1252	T>I		No	ClinGen gnomAD
rs868955885 CA415246271	1253	L>P		No	ClinGen Ensembl
rs1557207940 CA415246268	1253	L>V		No	ClinGen gnomAD
CA415246273 rs868917120	1254	K>Q		No	ClinGen Ensembl
CA415246285 rs1603393517	1255	R>C		No	ClinGen Ensembl
CA10564715 rs138605692	1255	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA10564716 rs138605692	1255	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA415246313 rs1569554597	1260	M>L		No	ClinGen Ensembl
rs1557207964 CA415246337	1262	N>K		No	ClinGen gnomAD
CA415246333 rs1557207962	1262	N>S		No	ClinGen gnomAD
rs782167196 CA10564717	1264	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs782313420 CA10564718	1265	S>A		No	ClinGen ExAC gnomAD
rs781937905 CA10564719	1265	S>C		No	ClinGen ExAC TOPMed gnomAD
rs781937905 CA415246353	1265	S>F		No	ClinGen ExAC TOPMed gnomAD
CA337320578 rs73573407	1266	R>C		No	ClinGen 1000Genomes TOPMed gnomAD
rs1052693941 CA337320584	1266	R>H		No	ClinGen TOPMed gnomAD
CA415246380 rs1557207978	1270	E>V		No	ClinGen gnomAD
CA10564735 rs782344962	1276	A>V		No	ClinGen ExAC gnomAD
CA10564737 rs782116569	1280	T>M		No	ClinGen ExAC TOPMed gnomAD
rs782014545 CA10564739	1283	N>S		No	ClinGen ExAC TOPMed gnomAD
CA415246510 rs1557208036	1287	N>S		No	ClinGen gnomAD
CA415246517 rs1557208043	1288	H>R		No	ClinGen gnomAD
CA415246538 rs1557208046	1291	E>K		No	ClinGen gnomAD
rs1245473967 CA415246550	1292	V>A		No	ClinGen TOPMed gnomAD
rs201041379 CA10564743	1292	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1557208055 CA415246573	1295	P>S		No	ClinGen gnomAD
rs1260448483 CA415246588	1296	F>L		No	ClinGen TOPMed gnomAD
rs782541498 CA10564746	1300	R>Q		No	ClinGen ExAC gnomAD
rs781876165 CA10564745	1300	R>W		No	ClinGen ExAC gnomAD
CA415246642 rs1305364936	1302	Y>H		No	ClinGen TOPMed
CA10564748 rs781795483	1303	A>T		No	ClinGen ExAC TOPMed gnomAD
rs143622764 CA10564750	1304	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782230927 CA10564751	1305	R>C		No	ClinGen ExAC TOPMed gnomAD
rs148059076 CA10564752	1305	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs782280541 CA10564754	1306	V>M		No	ClinGen ExAC gnomAD
CA10564756 rs781912798	1307	L>F		No	ClinGen ExAC gnomAD
CA415246713 rs1557208090	1309	P>L		No	ClinGen gnomAD
CA10564758 rs782338785	1310	G>S		No	ClinGen ExAC gnomAD
rs1557208100 CA415246734	1312	E>K		No	ClinGen gnomAD
CA415246744 rs1557208103	1313	A>T		No	ClinGen gnomAD
rs1557208104 CA415246777	1315	P>L		No	ClinGen gnomAD
rs1557208105 CA415246784	1316	V>A		No	ClinGen gnomAD
rs781962352 COSM1683038 CA10564759	1317	L>F	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1557208110 CA415246828	1321	D>N		No	ClinGen gnomAD
CA415246877 rs1557208154	1322	T>M		No	ClinGen gnomAD
CA10564774 rs782683403	1323	P>S		No	ClinGen ExAC
CA415246892 rs1389445745	1324	P>R		No	ClinGen TOPMed
CA415246890 rs1557208164	1324	P>S		No	ClinGen gnomAD
CA415246897 rs147236876	1325	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA10564775 rs147236876	1325	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10564777 rs782585263	1326	V>M		No	ClinGen ExAC TOPMed gnomAD
rs369020993 CA10564778	1331	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA10564779 rs782363980	1331	R>H		No	ClinGen ExAC TOPMed gnomAD
CA415246947 rs1440406968	1332	L>F		No	ClinGen TOPMed gnomAD
rs1557208169 CA415246948	1332	L>H		No	ClinGen gnomAD
rs79671454 CA10564781 RCV000948170	1334	G>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1557208176 CA415246966	1334	G>R		No	ClinGen gnomAD
CA415246975 rs868938487	1335	Q>K		No	ClinGen Ensembl
CA415247004 rs1557208185	1338	H>D		No	ClinGen gnomAD
CA415247009 rs782321449	1338	H>L		No	ClinGen ExAC TOPMed gnomAD
CA10564782 rs782321449	1338	H>P		No	ClinGen ExAC TOPMed gnomAD
CA10564783 rs781944857	1339	S>G		No	ClinGen ExAC gnomAD
CA10564784 rs782086440	1340	R>C		No	ClinGen ExAC gnomAD
rs782086440 CA415247026	1340	R>G		No	ClinGen ExAC gnomAD
CA10564785 rs782359746	1340	R>H		No	ClinGen ExAC gnomAD
CA10564787 rs782131554	1341	A>T		No	ClinGen ExAC gnomAD
CA415247040 rs1202566940	1341	A>V		No	ClinGen TOPMed
rs1209455991 CA415247054	1343	V>M		No	ClinGen TOPMed gnomAD
CA10564791 rs782710512	1345	T>I		No	ClinGen ExAC TOPMed gnomAD
CA10564792 rs781817071	1347	I>F		No	ClinGen ExAC TOPMed gnomAD
rs1036012111 CA337320982	1348	H>R		No	ClinGen gnomAD
CA10564793 rs139379622	1349	T>M		No	ClinGen ESP ExAC gnomAD
CA415247142 rs1557208211	1352	A>T		No	ClinGen gnomAD
CA415247167 rs1557208214	1354	S>N		No	ClinGen gnomAD
rs781890071 CA10564795	1354	S>R		No	ClinGen ExAC TOPMed gnomAD
CA415247209 rs1334926996	1358	M>V		No	ClinGen TOPMed gnomAD
CA415247233 rs1312516017	1360	D>N		No	ClinGen TOPMed gnomAD
COSM612104 rs1157314985 CA415247257	1362	G>S	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs782616980 CA10564800	1364	V>M		No	ClinGen ExAC TOPMed gnomAD
rs782387469 CA10564802	1366	S>L		No	ClinGen ExAC gnomAD
rs1488315061 CA415247333	1369	M>I		No	ClinGen TOPMed
CA337321089 rs1019190277	1369	M>T		No	ClinGen Ensembl
rs782307090 CA10564805	1369	M>V		No	ClinGen ExAC gnomAD
rs202189139 CA10564806	1371	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10564807 rs782077583	1373	Q>L		No	ClinGen ExAC gnomAD
rs781855853 CA10564809	1375	R>Q		No	ClinGen ExAC gnomAD
CA10564810 rs143996759	1377	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA415247408 rs1557208260	1378	Y>S		No	ClinGen gnomAD
rs782456804 CA10564813	1385	Q>E		No	ClinGen ExAC gnomAD
rs1342632484 CA415247591	1396	E>K		No	ClinGen TOPMed
CA415247610 rs1316259083	1397	S>N		No	ClinGen TOPMed
rs1557208275 CA415247630	1398	K>N		No	ClinGen gnomAD
CA337321156 rs187722897	1406	R>C		No	ClinGen 1000Genomes
CA415247710 rs1557208281	1406	R>H		No	ClinGen gnomAD
rs1331820656 CA415247803	1408	T>A		No	ClinGen TOPMed
CA337321310 rs940475354	1416	L>P		No	ClinGen Ensembl
rs1326071222 CA415247937	1417	T>S		No	ClinGen TOPMed
CA10564842 rs782274788	1420	F>L		No	ClinGen ExAC gnomAD
CA10564844 rs781939454	1422	F>C		No	ClinGen ExAC
CA10564845 rs782271809	1422	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA337321349 rs920281243	1424	L>P		No	ClinGen Ensembl
CA415248123 rs1557208346	1429	K>Q		No	ClinGen gnomAD
CA415249011 rs1557208384	1431	C>S		No	ClinGen gnomAD
CA415249115 rs1232225472	1441	C>R		No	ClinGen TOPMed gnomAD
rs782242295 CA10564863	1443	I>V		No	ClinGen ExAC gnomAD
rs1557208401 CA415249167	1445	Q>R		No	ClinGen gnomAD
rs1557208402 CA415249189	1447	M>V		No	ClinGen gnomAD
rs782301673 CA10564866	1452	I>T		No	ClinGen ExAC
CA10564867 rs782309547	1456	T>M		No	ClinGen ExAC gnomAD
rs782309547 CA415249323	1456	T>R		No	ClinGen ExAC gnomAD
CA415249341 rs1569554652	1458	E>K		No	ClinGen Ensembl
rs1409064042 CA415249363	1459	A>G		No	ClinGen TOPMed
CA415249453 rs1603394006	1465	E>A		No	ClinGen Ensembl
rs1034078296 CA337321520	1465	E>K		No	ClinGen Ensembl
rs1452041692 CA415249605	1474	D>N		No	ClinGen TOPMed
COSM3424629 CA415249610 rs1452041692	1474	D>Y	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1557208435 CA415249652	1475	Y>C		No	ClinGen gnomAD
CA415249805 rs1557208478	1479	T>A		No	ClinGen Ensembl
CA337321634 rs920376093	1479	T>S		No	ClinGen gnomAD
CA10564885 rs782615090	1482	C>Y		No	ClinGen ExAC gnomAD
CA337321650 rs782482528	1483	V>L		No	ClinGen ExAC gnomAD
rs782482528 CA10564887	1483	V>M		No	ClinGen ExAC gnomAD
CA415249973 rs868935801	1484	C>*		No	ClinGen gnomAD
CA10564889 rs182762097	1485	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA415249981 rs1557208494	1485	P>S		No	ClinGen TOPMed
rs1557208498 CA415250045	1488	E>K		No	ClinGen gnomAD
CA415250068 rs1569554661	1488	E>V		No	ClinGen Ensembl
rs1557208499 CA415250115	1489	G>D		No	ClinGen gnomAD
CA10564892 rs782108362	1491	A>G		No	ClinGen ExAC gnomAD
rs1557208505 CA415250249	1493	V>I		No	ClinGen gnomAD
rs782771805 CA10564893	1496	K>N		No	ClinGen ExAC
CA10564895 rs142130727	1506	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA415250661 rs1473011893	1508	D>N		No	ClinGen TOPMed
COSM1557506 rs1259860516 CA415250739	1513	T>I	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA415250736 rs1259860516	1513	T>S		No	ClinGen TOPMed gnomAD
rs368382133 CA10564897	1515	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1557208530 CA415250800	1517	G>D		No	ClinGen gnomAD
CA415250897 rs1557208534	1522	Q>*		No	ClinGen gnomAD
CA415250893 rs1557208534	1522	Q>K		No	ClinGen gnomAD
rs782591705 CA415250917	1523	R>C		No	ClinGen ExAC gnomAD
rs782591705 CA10564899	1523	R>G		No	ClinGen ExAC gnomAD
CA10564900 rs151166195	1523	R>H		No	ClinGen ESP ExAC gnomAD
rs202079163 CA337321774	1526	A>P		No	ClinGen gnomAD
rs782504559 CA10564901	1529	M>V		No	ClinGen ExAC TOPMed gnomAD
rs782644321 CA10564902	1530	D>E		No	ClinGen ExAC gnomAD
rs782710199 CA10564913	1533	W>*		No	ClinGen ExAC gnomAD
rs1233088726 CA415251354	1534	R>C		No	ClinGen TOPMed
CA415251398 rs1557208590	1536	G>D		No	ClinGen gnomAD
CA10564915 rs140345657	1537	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA415251416 rs1557208595	1537	R>H		No	ClinGen gnomAD
rs782775495 CA10564916	1538	M>L		No	ClinGen ExAC TOPMed gnomAD
rs782775495 CA415251434	1538	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1557208600 CA415251463	1539	T>S		No	ClinGen gnomAD
CA10564917 rs781871753	1540	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1288188246 CA415251474	1540	R>P		No	ClinGen TOPMed gnomAD
CA415251484 rs1557208607	1541	I>V		No	ClinGen gnomAD
CA415251568 rs1569554671	1544	Q>R		No	ClinGen Ensembl
CA337321969 rs374297792	1551	K>E		No	ClinGen gnomAD
rs1557208611 CA415251747	1551	K>N		No	ClinGen gnomAD
CA415251729 rs374297792	1551	K>Q		No	ClinGen gnomAD
rs200080300 CA337321977	1552	I>M		No	ClinGen ExAC TOPMed gnomAD
rs200342725 CA10564921	1553	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs200342725 CA10564922	1553	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs782249141 CA10564923	1558	R>K		No	ClinGen ExAC gnomAD
CA415251949 rs1426776387	1561	S>L		No	ClinGen TOPMed
rs150337074 CA10564924	1563	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA415251979 rs1557208625	1564	H>D		No	ClinGen gnomAD
rs782669355 CA10564925	1566	Q>*		No	ClinGen ExAC gnomAD
rs1336300335 CA415252095	1568	T>R		No	ClinGen TOPMed
CA10564944 rs782575034	1570	G>S		No	ClinGen ExAC TOPMed gnomAD
rs781857492 CA415252245	1580	V>L		No	ClinGen ExAC gnomAD
rs781857492 CA10564948	1580	V>M		No	ClinGen ExAC gnomAD
rs782377471 CA10564949	1581	S>P		No	ClinGen ExAC TOPMed gnomAD
CA10564950 rs138097094	1583	Y>C		No	ClinGen ESP ExAC gnomAD
rs1557208693 CA415252318	1585	M>I		No	ClinGen gnomAD
rs897453344 CA337322169	1585	M>T		No	ClinGen TOPMed gnomAD
rs1173541081 CA415252359	1588	S>F		No	ClinGen TOPMed gnomAD
rs1557208702 CA415252363	1589	F>I		No	ClinGen gnomAD
rs373623553 CA10564952	1590	T>I		No	ClinGen ESP ExAC gnomAD
rs1557208713 CA10564953	1592	T>I		No	ClinGen gnomAD
rs1557208709 CA415252407	1592	T>S		No	ClinGen gnomAD
CA10564955 rs192776944	1593	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA415252417 rs192776944	1593	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377051860 CA10564956	1593	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA10564957 rs782378742	1594	S>A		No	ClinGen ExAC gnomAD
CA415252437 rs1557208730	1595	L>F		No	ClinGen gnomAD
rs782000315 CA10564958	1595	L>P		No	ClinGen ExAC gnomAD
CA10564959 rs782145368	1597	R>H		No	ClinGen ExAC TOPMed gnomAD
CA415252480 rs1557208737	1599	E>K		No	ClinGen gnomAD
CA337322644 rs1037029783	1603	R>C		No	ClinGen gnomAD
CA10564984 rs142245785	1603	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs995719121 CA337322653	1604	T>M		No	ClinGen gnomAD
CA415252617 rs1569554695	1605	A>D		No	ClinGen Ensembl
CA10564986 rs782446260	1612	R>C		No	ClinGen ExAC TOPMed gnomAD
CA415252714 rs1557208827	1613	S>L		No	ClinGen gnomAD
rs1027171216 CA337322702	1614	R>Q		No	ClinGen Ensembl
rs782740709 CA10564987	1614	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1557208843 CA415252743	1616	P>L		No	ClinGen gnomAD
CA10564988 rs781857878	1619	T>M		No	ClinGen ExAC TOPMed gnomAD
CA10564989 rs782523142	1620	P>L		No	ClinGen ExAC TOPMed gnomAD
rs782668002 CA10564990	1621	D>N		No	ClinGen ExAC gnomAD
rs782297724 CA10564991	1622	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs868916413 CA415252829	1623	E>D		No	ClinGen Ensembl
rs200967147 CA337322729	1624	T>I		No	ClinGen 1000Genomes
rs782447375 CA10564992	1625	G>D		No	ClinGen ExAC gnomAD
CA415252843 rs1475438761	1625	G>S		No	ClinGen TOPMed
CA10564993 rs782582829	1627	K>T		No	ClinGen ExAC gnomAD
rs1557208875 CA415252946	1632	V>G		No	ClinGen gnomAD
CA415252998 rs1448755939	1636	D>N		No	ClinGen TOPMed gnomAD
CA10564998 rs782399274	1637	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1253554998 CA415253016	1637	H>Y		No	ClinGen TOPMed gnomAD
CA415253037 rs1557208894	1638	A>V		No	ClinGen gnomAD
rs375138921 CA10565000	1639	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1341759825 CA415253074	1641	R>C		No	ClinGen TOPMed
CA415253091 rs1227766548	1642	E>D		No	ClinGen TOPMed gnomAD
CA415253085 rs1557208915	1642	E>K		No	ClinGen gnomAD
rs782726326 CA10565001	1643	G>A		No	ClinGen ExAC TOPMed gnomAD
CA415253105 rs782726326	1643	G>V		No	ClinGen ExAC TOPMed gnomAD
CA10565003 rs782095534	1644	D>A		No	ClinGen ExAC TOPMed
rs1557208935 COSM125453 CA415253125	1645	R>C	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA10565005 rs202103837	1645	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA415253158 rs1557208950	1647	S>N		No	ClinGen gnomAD
rs1557208950 CA415253159	1647	S>T		No	ClinGen gnomAD
rs1557208957 CA415253266	1655	L>M		No	ClinGen gnomAD
CA10565009 rs782470754	1657	R>Q		No	ClinGen ExAC gnomAD
CA415253288 rs1557208958	1657	R>W		No	ClinGen gnomAD
CA10565010 rs782631238	1660	A>S		No	ClinGen ExAC gnomAD
CA10565031 rs781805857	1667	K>N		No	ClinGen ExAC gnomAD
rs1557209085 CA415253458	1668	F>L		No	ClinGen gnomAD
rs1007139992 CA337323053	1669	V>M		No	ClinGen Ensembl
CA10565033 rs782615939	1670	D>G		No	ClinGen ExAC gnomAD
rs782238388 CA10565034	1673	F>L		No	ClinGen ExAC gnomAD
rs1557209097 CA415253559	1675	T>A		No	ClinGen gnomAD
rs1226111545 CA415253619	1679	T>I		No	ClinGen TOPMed gnomAD
rs1432750576 CA415253651	1682	R>Q		No	ClinGen TOPMed
CA10565036 rs782677818	1682	R>W		No	ClinGen ExAC TOPMed gnomAD
CA337323085 rs1020691122	1692	Y>N		No	ClinGen Ensembl
rs1557209111 CA415253778	1693	M>T		No	ClinGen gnomAD
CA10565039 rs781963771	1695	D>N		No	ClinGen ExAC gnomAD
rs879952537 CA415253863	1699	E>G		No	ClinGen Ensembl
rs1557209125 CA415253889	1701	A>V		No	ClinGen gnomAD
CA415253892 rs1461786781	1702	D>N		No	ClinGen TOPMed gnomAD
rs1603394763 CA415253917	1704	R>C		No	ClinGen Ensembl
rs782380731 CA10565041	1704	R>H		No	ClinGen ExAC TOPMed gnomAD
CA415254004 rs148101420	1710	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA415254019 rs1557209140	1712	R>C		No	ClinGen gnomAD
rs141950364 CA337323137	1712	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA10565047 rs141950364	1712	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1235178364 CA415187891	1721	P>L		No	ClinGen TOPMed
CA10565070 rs782704287	1723	R>C		No	ClinGen ExAC gnomAD
CA415187978 rs1557209323	1727	N>S		No	ClinGen gnomAD
rs1557209335 CA415188124	1737	D>N		No	ClinGen gnomAD
rs201311600 CA337286878	1738	I>F		No	ClinGen Ensembl
rs1557209341 CA415188159	1739	H>R		No	ClinGen gnomAD
rs1569554750 CA415188172	1741	N>D		No	ClinGen Ensembl
CA10565076 rs782672197	1743	I>V		No	ClinGen ExAC gnomAD
CA10565080 rs782201198	1749	S>L		No	ClinGen ExAC gnomAD
CA415188265 rs1165283945	1754	T>I		No	ClinGen TOPMed gnomAD
rs781983405 CA10565082	1761	T>I		No	ClinGen ExAC gnomAD
rs782403488 CA10565084	1763	E>K		No	ClinGen ExAC TOPMed gnomAD
rs782513820 CA10565086	1765	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372517205 CA10565087	1765	R>H		No	ClinGen ESP ExAC gnomAD
CA415188342 rs372517205	1765	R>L		No	ClinGen ESP ExAC gnomAD
CA10565089 rs782117944	1769	D>E		No	ClinGen ExAC
rs781801547 CA10565094	1778	A>T		No	ClinGen ExAC gnomAD
CA10565095 rs782466263	1783	N>S		No	ClinGen ExAC gnomAD
rs1274035913 CA415188466	1784	Y>F		No	ClinGen TOPMed
CA415188502 rs1211912878	1789	E>K		No	ClinGen TOPMed gnomAD
CA10565098 rs370699816	1790	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1557209503 CA415188544	1793	R>G		No	ClinGen gnomAD
rs1603395243 CA415188546	1793	R>Q		No	ClinGen Ensembl
CA10565118 rs781829774	1795	I>M		No	ClinGen ExAC
CA10565117 rs782578857	1795	I>V		No	ClinGen ExAC gnomAD
rs782487415 CA10565119	1797	K>E		No	ClinGen ExAC gnomAD
rs1603395250 CA415188570	1797	K>T		No	ClinGen Ensembl
CA415188588 rs1557209510	1799	A>G		No	ClinGen gnomAD
rs994038059 CA337287287	1800	S>T		No	ClinGen Ensembl
rs782642876 CA10565120	1801	I>V		No	ClinGen ExAC gnomAD
CA10565121 rs782268075	1803	D>N		No	ClinGen ExAC gnomAD
CA415188620 rs1557209518	1804	Q>R		No	ClinGen gnomAD
rs1349241842 CA415188653	1808	A>V		No	ClinGen TOPMed gnomAD
rs1557209538 CA415188695	1814	S>Y		No	ClinGen gnomAD
rs1328974656 CA415188699	1815	R>H		No	ClinGen TOPMed
CA415188717 rs1371930428	1818	A>P		No	ClinGen TOPMed
COSM457120 CA10565127 rs782094886	1820	D>N	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA10565130 rs782426462	1823	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782426462 CA10565129	1823	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1018329215 CA337287325	1826	A>V		No	ClinGen gnomAD
CA10565132 rs781805153	1828	N>S		No	ClinGen ExAC TOPMed gnomAD
rs782080154 CA10565133	1829	E>K		No	ClinGen ExAC gnomAD
rs1182877689 CA415188801	1831	Y>H		No	ClinGen TOPMed
CA415188815 rs1557209578	1832	F>L		No	ClinGen gnomAD
rs782719182 CA10565134	1833	Y>S		No	ClinGen 1000Genomes ExAC gnomAD
rs781972979 CA10565136	1835	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10565135 rs781972979	1835	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10565138 rs781913713	1838	R>C		No	ClinGen ExAC gnomAD
rs868942414 CA415188988	1843	T>A		No	ClinGen Ensembl
COSM1118063 CA10565154 rs782174023	1843	T>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs782078677 CA10565155	1844	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781797491 CA10565156	1846	D>G		No	ClinGen ExAC gnomAD
rs782457005 CA10565157	1847	R>*		No	ClinGen ExAC gnomAD
CA415189041 rs1182719900	1847	R>Q		No	ClinGen TOPMed
CA337287901 rs145513466	1850	S>P		No	ClinGen ESP TOPMed gnomAD
rs1250121818 CA415189082	1851	C>S		No	ClinGen TOPMed gnomAD
CA10565158 rs782756835	1851	C>Y		No	ClinGen ExAC gnomAD
rs1569554800 CA415189104	1852	R>Q		No	ClinGen Ensembl
CA415189101 rs1557209852	1852	R>W		No	ClinGen gnomAD
rs1206995161 CA415189119	1853	K>R		No	ClinGen TOPMed
rs1266066465 CA415189135	1854	H>Y		No	ClinGen TOPMed
rs1320417678 CA415189167	1857	R>G		No	ClinGen TOPMed gnomAD
rs201267859 CA10565160	1857	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1320417678 CA415189168	1857	R>W		No	ClinGen TOPMed gnomAD
CA10565161 rs782663738	1858	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs202086459 CA10565164	1867	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782227302 CA10565165	1869	S>C		No	ClinGen ExAC TOPMed gnomAD
rs903307680 CA337287953	1869	S>N		No	ClinGen TOPMed gnomAD

No associated diseases with P51805

14 regional properties for P51805

Type	Name	Position	InterPro Accession
domain	Sema domain	6 - 488	IPR001627
repeat	Plexin repeat	490 - 530	IPR002165-1
repeat	Plexin repeat	637 - 678	IPR002165-2
domain	IPT domain	839 - 933	IPR002909-1
domain	IPT domain	934 - 1020	IPR002909-2
domain	IPT domain	1022 - 1122	IPR002909-3
domain	IPT domain	1124 - 1219	IPR002909-4
domain	Plexin, cytoplasmic RasGAP domain	1293 - 1841	IPR013548
domain	PSI domain	490 - 540	IPR016201-1
domain	PSI domain	637 - 684	IPR016201-2
domain	PSI domain	785 - 838	IPR016201-3
domain	Plexin, TIG domain 1	546 - 636	IPR041019
domain	Plexin, TIG domain 2	691 - 784	IPR041362
domain	Plexin, cytoplasmic RhoGTPase-binding domain	1463 - 1575	IPR046800

Functions

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

3 GO annotations of cellular component

Name	Definition
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
semaphorin receptor complex	A stable binary complex of a neurophilin and a plexin, together forming a functional semaphorin receptor.

1 GO annotations of molecular function

Name	Definition
semaphorin receptor activity	Combining with a semaphorin, and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.

18 GO annotations of biological process

Name	Definition
axon guidance	The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
branchiomotor neuron axon guidance	The process in which a branchiomotor neuron growth cone is directed to a specific target site. Branchiomotor neurons are located in the hindbrain and innervate branchial arch-derived muscles that control jaw movements, facial expression, the larynx, and the pharynx.
facial nerve structural organization	The process that contributes to the act of creating the structural organization of the facial nerve. This process pertains to the physical shaping of a rudimentary structure. This sensory and motor nerve supplies the muscles of facial expression and the expression and taste at the anterior two-thirds of the tongue. The principal branches are the superficial opthalmic, buccal, palatine and hyomandibular. The main trunk synapses within pterygopalatine ganglion in the parotid gland and this ganglion then gives of nerve branches which supply the lacrimal gland and the mucous secreting glands of the nasal and oral cavities.
hippocampus development	The progression of the hippocampus over time from its initial formation until its mature state.
negative chemotaxis	The directed movement of a motile cell or organism towards a lower concentration of a chemical.
negative regulation of axon extension involved in axon guidance	Any process that stops, prevents, or reduces the frequency, rate or extent of axon extension involved in axon guidance.
negative regulation of cell adhesion	Any process that stops, prevents, or reduces the frequency, rate or extent of cell adhesion.
neuron projection extension	Long distance growth of a single neuron projection involved in cellular development. A neuron projection is a prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
neuron projection guidance	The process in which the migration of a neuron projection is directed to a specific target site in response to a combination of attractive and repulsive cues.
positive regulation of axonogenesis	Any process that activates or increases the frequency, rate or extent of axonogenesis.
positive regulation of cytoskeleton organization	Any process that activates or increases the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures.
pyramidal neuron development	The progression of a pyramidal neuron from its initial formation to its mature state.
regulation of cell migration	Any process that modulates the frequency, rate or extent of cell migration.
regulation of cell shape	Any process that modulates the surface configuration of a cell.
regulation of GTPase activity	Any process that modulates the rate of GTP hydrolysis by a GTPase.
semaphorin-plexin signaling pathway	The series of molecular signals generated as a consequence of a semaphorin receptor (composed of a plexin and a neurophilin) binding to a semaphorin ligand.
semaphorin-plexin signaling pathway involved in axon guidance	Any semaphorin-plexin signaling pathway that is involved in axon guidance.
trigeminal nerve structural organization	The process that contributes to the act of creating the structural organization of the oculomotor nerve. This process pertains to the physical shaping of a rudimentary structure. The trigeminal nerve is composed of three large branches. They are the ophthalmic (V1, sensory), maxillary (V2, sensory) and mandibular (V3, motor and sensory) branches. The sensory ophthalmic branch travels through the superior orbital fissure and passes through the orbit to reach the skin of the forehead and top of the head. The maxillary nerve contains sensory branches that reach the pterygopalatine fossa via the inferior orbital fissure (face, cheek and upper teeth) and pterygopalatine canal (soft and hard palate, nasal cavity and pharynx). The motor part of the mandibular branch is distributed to the muscles of mastication, the mylohyoid muscle and the anterior belly of the digastric. The mandibular nerve also innervates the tensor veli palatini and tensor tympani muscles. The sensory part of the mandibular nerve is composed of branches that carry general sensory information from the mucous membranes of the mouth and cheek, anterior two-thirds of the tongue, lower teeth, skin of the lower jaw, side of the head and scalp and meninges of the anterior and middle cranial fossae.

27 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q769I5	MET	Hepatocyte growth factor receptor	Bos taurus (Bovine)	PR
A0M8S8	MET	Hepatocyte growth factor receptor	Felis catus (Cat) (Felis silvestris catus)	PR
Q04912	MST1R	Macrophage-stimulating protein receptor	Homo sapiens (Human)	EV
P08581	MET	Hepatocyte growth factor receptor	Homo sapiens (Human)	EV
O15031	PLXNB2	Plexin-B2	Homo sapiens (Human)	SS
Q9UIW2	PLXNA1	Plexin-A1	Homo sapiens (Human)	EV SS
Q9ULL4	PLXNB3	Plexin-B3	Homo sapiens (Human)	SS
O75051	PLXNA2	Plexin-A2	Homo sapiens (Human)	SS
O43157	PLXNB1	Plexin-B1	Homo sapiens (Human)	EV SS
Q9HCM2	PLXNA4	Plexin-A4	Homo sapiens (Human)	SS
Q9QY40	Plxnb3	Plexin-B3	Mus musculus (Mouse)	SS
Q3UH93	Plxnd1	Plexin-D1	Mus musculus (Mouse)	SS
P70207	Plxna2	Plexin-A2	Mus musculus (Mouse)	SS
Q62190	Mst1r	Macrophage-stimulating protein receptor	Mus musculus (Mouse)	SS
B2RXS4	Plxnb2	Plexin-B2	Mus musculus (Mouse)	SS
Q8CJH3	Plxnb1	Plexin-B1	Mus musculus (Mouse)	SS
Q9QZC2	Plxnc1	Plexin-C1	Mus musculus (Mouse)	SS
Q80UG2	Plxna4	Plexin-A4	Mus musculus (Mouse)	SS
P16056	Met	Hepatocyte growth factor receptor	Mus musculus (Mouse)	PR
P70206	Plxna1	Plexin-A1	Mus musculus (Mouse)	EV SS
P70208	Plxna3	Plexin-A3	Mus musculus (Mouse)	EV SS
Q2QLE0	MET	Hepatocyte growth factor receptor	Sus scrofa (Pig)	PR
P97523	Met	Hepatocyte growth factor receptor	Rattus norvegicus (Rat)	PR
D3ZLH5	Plxnb3	Plexin-B3	Rattus norvegicus (Rat)	SS
D3ZPX4	Plxna3	Plexin-A3	Rattus norvegicus (Rat)	SS
Q6BEA0	plxna4	Plexin-A4	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
B0S5N4	plxna3	Plexin A3	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MPSVCLLLLL	FLAVGGALGN	RPFRAFVVTD	TTLTHLAVHR	VTGEVFVGAV	NRVFKLAPNL
70	80	90	100	110	120
TELRAHVTGP	VEDNARCYPP	PSMRVCAHRL	APVDNINKLL	LIDYAARRLV	ACGSIWQGIC
130	140	150	160	170	180
QFLRLDDLFK	LGEPHHRKEH	YLSGAQEPDS	MAGVIVEQGQ	GPSKLFVGTA	VDGKSEYFPT
190	200	210	220	230	240
LSSRKLISDE	DSADMFSLVY	QDEFVSSQIK	IPSDTLSLYP	AFDIYYIYGF	VSASFVYFLT
250	260	270	280	290	300
LQLDTQQTLL	DTAGEKFFTS	KIVRMCAGDS	EFYSYVEFPI	GCSWRGVEYR	LVQSAHLAKP
310	320	330	340	350	360
GLLLAQALGV	PADEDVLFTI	FSQGQKNRAS	PPRQTILCLF	TLSNINAHIR	RRIQSCYRGE
370	380	390	400	410	420
GTLALPWLLN	KELPCINTPM	QINGNFCGLV	LNQPLGGLHV	IEGLPLLADS	TDGMASVAAY
430	440	450	460	470	480
TYRQHSVVFI	GTRSGSLKKV	RVDGFQDAHL	YETVPVVDGS	PILRDLLFSP	DHRHIYLLSE
490	500	510	520	530	540
KQVSQLPVET	CEQYQSCAAC	LGSGDPHCGW	CVLRHRCCRE	GACLGASAPH	GFAEELSKCV
550	560	570	580	590	600
QVRVRPNNVS	VTSPGVQLTV	TLHNVPDLSA	GVSCAFEAAA	ENEAVLLPSG	ELLCPSPSLQ
610	620	630	640	650	660
ELRALTRGHG	ATRTVRLQLL	SKETGVRFAG	ADFVFYNCSV	LQSCMSCVGS	PYPCHWCKYR
670	680	690	700	710	720
HTCTSRPHEC	SFQEGRVHSP	EGCPEILPSG	DLLIPVGVMQ	PLTLRAKNLP	QPQSGQKNYE
730	740	750	760	770	780
CVVRVQGRQQ	RVPAVRFNSS	SVQCQNASYS	YEGDEHGDTE	LDFSVVWDGD	FPIDKPPSFR
790	800	810	820	830	840
ALLYKCWAQR	PSCGLCLKAD	PRFNCGWCIS	EHRCQLRTHC	PAPKTNWMHL	SQKGTRCSHP
850	860	870	880	890	900
RITQIHPLVG	PKEGGTRVTI	VGENLGLLSR	EVGLRVAGVR	CNSIPAEYIS	AERIVCEMEE
910	920	930	940	950	960
SLVPSPPPGP	VELCVGDCSA	DFRTQSEQVY	SFVTPTFDQV	SPSRGPASGG	TRLTISGSSL
970	980	990	1000	1010	1020
DAGSRVTVTV	RDSECQFVRR	DAKAIVCISP	LSTLGPSQAP	ITLAIDRANI	SSPGLIYTYT
1030	1040	1050	1060	1070	1080
QDPTVTRLEP	TWSIINGSTA	ITVSGTHLLT	VQEPRVRAKY	RGIETTNTCQ	VINDTAMLCK
1090	1100	1110	1120	1130	1140
APGIFLGRPQ	PRAQGEHPDE	FGFLLDHVQT	ARSLNRSSFT	YYPDPSFEPL	GPSGVLDVKP
1150	1160	1170	1180	1190	1200
GSHVVLKGKN	LIPAAAGSSR	LNYTVLIGGQ	PCSLTVSDTQ	LLCDSPSQTG	RQPVMVLVGG
1210	1220	1230	1240	1250	1260
LEFWLGTLHI	SAERALTLPA	MMGLAAGGGL	LLLAITAVLV	AYKRKTQDAD	RTLKRLQLQM
1270	1280	1290	1300	1310	1320
DNLESRVALE	CKEAFAELQT	DINELTNHMD	EVQIPFLDYR	TYAVRVLFPG	IEAHPVLKEL
1330	1340	1350	1360	1370	1380
DTPPNVEKAL	RLFGQLLHSR	AFVLTFIHTL	EAQSSFSMRD	RGTVASLTMV	ALQSRLDYAT
1390	1400	1410	1420	1430	1440
GLLKQLLADL	IEKNLESKNH	PKLLLRRTES	VAEKMLTNWF	TFLLHKFLKE	CAGEPLFLLY
1450	1460	1470	1480	1490	1500
CAIKQQMEKG	PIDAITGEAR	YSLSEDKLIR	QQIDYKTLTL	HCVCPENEGS	AQVPVKVLNC
1510	1520	1530	1540	1550	1560
DSITQAKDKL	LDTVYKGIPY	SQRPKAEDMD	LEWRQGRMTR	IILQDEDVTT	KIECDWKRLN
1570	1580	1590	1600	1610	1620
SLAHYQVTDG	SLVALVPKQV	SAYNMANSFT	FTRSLSRYES	LLRTASSPDS	LRSRAPMITP
1630	1640	1650	1660	1670	1680
DQETGTKLWH	LVKNHDHADH	REGDRGSKMV	SEIYLTRLLA	TKGTLQKFVD	DLFETVFSTA
1690	1700	1710	1720	1730	1740
HRGSALPLAI	KYMFDFLDEQ	ADQRQISDPD	VRHTWKSNCL	PLRFWVNVIK	NPQFVFDIHK
1750	1760	1770	1780	1790	1800
NSITDACLSV	VAQTFMDSCS	TSEHRLGKDS	PSNKLLYAKD	IPNYKSWVER	YYRDIAKMAS
1810	1820	1830	1840	1850	1860
ISDQDMDAYL	VEQSRLHASD	FSVLSALNEL	YFYVTKYRQE	ILTALDRDAS	CRKHKLRQKL
1870
EQIISLVSSD	S

Descriptions

Annotation based on sequence homology with Q9UIW2 and P70208

Autoinhibitory domains (AIDs)

Accessory elements

References

Autoinhibited structure

Activated structure

1 structures for P51805

1228 variants for P51805

No associated diseases with P51805

14 regional properties for P51805

Functions

3 GO annotations of cellular component

1 GO annotations of molecular function

18 GO annotations of biological process

27 homologous proteins in AiPD