AiPD: Autoinhibited Protein Database

Q04912

Gene name	MST1R (PTK8, RON)
Protein name	Macrophage-stimulating protein receptor
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4486
EC number	2.7.10.1: Protein-tyrosine kinases
Protein Class	TYROSINE-PROTEIN KINASE RECEPTOR (PTHR24416)

Descriptions

RON is synonyms of gene name. Macrophage-stimulating protein receptor(MSP receptor) is a receptor tyrosine kinase in the MET family. It regulates many physiological processes including cell survival, migration and differentiation. The C-terminal tail of RON regulates kinase activity via an interaction with the kinase catalytic domain. The C-terminal tail interacts with the catalytic domain and partially inhibits RON kinase activity.

Autoinhibitory domains (AIDs)

Target domain	1082-1345 (Protein kinase domain)
Relief mechanism	PTM
Assay	Deletion assay, Mutagenesis experiment

AID

1346-1400 (C-terminal tail)

Target domain

1082-1345 (Protein kinase domain)

Relief mechanism

PTM (Phosphorylation at Tyr-1238 and Tyr-1239 in the activation loop)

Assay

Deletion assay, Mutagenesis experiment

Accessory elements

1225-1252 (Activation loop from InterPro)

Target domain	1082-1345 (Protein kinase domain)
Relief mechanism
Assay

References

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

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

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

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

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

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

Autoinhibited structure

Activated structure

4 structures for Q04912

Entry ID	Method	Resolution	Chain	Position	Source
3PLS	X-ray	224 A	A	1060-1357	PDB
4FWW	X-ray	185 A	A	42-568	PDB
4QT8	X-ray	300 A	A/B	25-683	PDB
AF-Q04912-F1	Predicted				AlphaFoldDB

1202 variants for Q04912

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000239598 VAR_076928 CA2409367 rs200046052	306	R>H	NPCA3 Nasopharyngeal carcinoma, susceptibility to, 3 [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
VAR_076929 rs200757776 CA2409342	327	A>T	NPCA3; unknown pathological significance [UniProt]	Yes	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA352896524 RCV000984099 rs1575446356	493	D>Y	Multiple myeloma [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_076930 CA2409048 rs201024956	670	V>G	NPCA3; unknown pathological significance [UniProt]	Yes	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA2408779 VAR_076931 rs773053723	973	A>T	NPCA3; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs1162675335 CA352911615	2	E>Q		No	ClinGen TOPMed
CA352911561 rs1352914420	3	L>R		No	ClinGen gnomAD
rs751353371 CA2409574	4	L>F		No	ClinGen ExAC gnomAD
rs375375932 CA2409572	8	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2409571 rs200935978	9	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
CA2409570 rs765180725	10	S>P		No	ClinGen ExAC TOPMed gnomAD
CA352911369 rs1337972119	11	F>V		No	ClinGen TOPMed
CA352911298 rs1479863315	14	L>Q		No	ClinGen gnomAD
rs149709041 CA2409568	16	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA352911173 rs1321008909	20	K>E		No	ClinGen gnomAD
CA2409567 rs764354667	21	P>T		No	ClinGen ExAC gnomAD
rs140992621 CA2409566	22	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA352911077 rs1330933197	23	A>V		No	ClinGen gnomAD
rs376233489 CA2409563	24	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1457494651 CA352911025	26	D>A		No	ClinGen TOPMed gnomAD
CA352911035 rs1323913607	26	D>N		No	ClinGen gnomAD
CA2409562 rs774953632	28	Q>*		No	ClinGen ExAC gnomAD
CA2409561 rs771601768	29	C>R		No	ClinGen ExAC gnomAD
rs780619110 CA2409559	30	P>T		No	ClinGen ExAC TOPMed gnomAD
CA352910847 rs1439972260	31	R>C		No	ClinGen gnomAD
rs1207487380 CA352910823	32	T>S		No	ClinGen gnomAD
rs1223767270 CA352910780	34	Y>S		No	ClinGen TOPMed gnomAD
CA74593130 rs139899091	35	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA74593135 rs912994489	35	A>T		No	ClinGen TOPMed gnomAD
CA2409555 rs139899091	35	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1299468144 CA352910759	36	A>T		No	ClinGen gnomAD
rs1386221559 CA352910745	36	A>V		No	ClinGen gnomAD
rs1391612870 CA11404871	37	S>C		No	ClinGen TOPMed gnomAD
CA352910717 rs1452306995	38	R>S		No	ClinGen gnomAD
CA352910686 rs1358452249	39	D>G		No	ClinGen TOPMed
CA2409553 rs142478095	39	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA352910633 rs570923795	40	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1381716168 CA352910617	41	D>E		No	ClinGen gnomAD
CA352910630 rs1313156143	41	D>N		No	ClinGen TOPMed
rs1196376975 CA352910601	42	V>L		No	ClinGen gnomAD
CA352910532 rs1171070291	45	V>M		No	ClinGen gnomAD
rs1192829912 CA352910490	46	V>L		No	ClinGen TOPMed gnomAD
CA352910501 rs1192829912	46	V>M		No	ClinGen TOPMed gnomAD
rs1285258131 CA352910462	47	P>H		No	ClinGen TOPMed gnomAD
CA352910457 rs1285258131	47	P>L		No	ClinGen TOPMed gnomAD
rs763646051 CA2409550	47	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2409549 rs763646051	47	P>T		No	ClinGen ExAC TOPMed gnomAD
CA2409548 rs752910080	49	F>C		No	ClinGen ExAC
COSM3824200 COSM3824199 CA2409545 rs774898447	52	G>E	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs144338909 CA2409546	52	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1331723164 CA352910323	53	G>S		No	ClinGen gnomAD
CA352910313 rs1303558294	53	G>V		No	ClinGen gnomAD
CA352910302 rs1575461841	54	L>V		No	ClinGen Ensembl
CA2409541 rs763433622	58	M>V		No	ClinGen ExAC gnomAD
CA352910148 rs1170416536	61	Y>C		No	ClinGen gnomAD
CA2409539 rs201965059	62	E>G		No	ClinGen 1000Genomes ExAC gnomAD
COSM584118 CA74593023 rs983490364 COSM584119	62	E>K	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs746548899 CA2409538	63	G>D		No	ClinGen ExAC
CA352910085 rs1262309827	64	D>E		No	ClinGen gnomAD
CA352910096 rs771749749	64	D>N		No	ClinGen ExAC TOPMed gnomAD
CA2409536 rs771749749	64	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs745640488 CA2409535	65	R>G		No	ClinGen ExAC gnomAD
rs1489144134 CA352910045	66	N>S		No	ClinGen gnomAD
rs1253864276 CA352910033	67	E>*		No	ClinGen TOPMed gnomAD
CA352910028 rs1253864276	67	E>Q		No	ClinGen TOPMed gnomAD
rs778736623 CA352909967	68	S>R		No	ClinGen ExAC gnomAD
rs777781831 CA2409530	72	V>G		No	ClinGen ExAC gnomAD
CA2409531 rs749112501	72	V>L		No	ClinGen ExAC gnomAD
CA2409529 rs35887539	75	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352909820 rs1489965247	75	R>H		No	ClinGen gnomAD
rs35887539 RCV000916734 VAR_041768 CA2409528	75	R>S		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2409527 rs767819782	76	N>S		No	ClinGen ExAC TOPMed gnomAD
rs756348422 CA2409526	77	R>C		No	ClinGen ExAC TOPMed gnomAD
rs756348422 CA352909798	77	R>S		No	ClinGen ExAC TOPMed gnomAD
rs529137211 CA2409524	79	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs890154467 CA74592889	80	V>L		No	ClinGen gnomAD
CA352909612 rs1171261301	85	L>P		No	ClinGen gnomAD
CA2409522 rs140399231	85	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA352909588 rs1476379054	88	V>I		No	ClinGen gnomAD
rs1273800589 CA352909574	89	Q>*		No	ClinGen TOPMed
CA74592883 rs998734569	89	Q>H		No	ClinGen Ensembl
CA352909564 rs1366666733	89	Q>R		No	ClinGen gnomAD
CA352909517 rs1186527811	92	A>T		No	ClinGen gnomAD
CA352909502 rs1442805303	92	A>V		No	ClinGen gnomAD
rs540212347 CA2409520	93	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352909496 rs1258516741	93	T>S		No	ClinGen gnomAD
rs1236312144 CA352909461	95	P>R		No	ClinGen TOPMed
CA74592877 rs55908300 VAR_041769	95	P>T		No	ClinGen UniProt Ensembl dbSNP
rs774058159 CA2409516	98	D>E		No	ClinGen ExAC gnomAD
CA2409517 rs745587580	98	D>N		No	ClinGen ExAC TOPMed gnomAD
rs745587580 CA74592875	98	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA2409515 rs770576642	99	P>L		No	ClinGen ExAC gnomAD
rs528120842 CA2409513	101	C>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs368246688 CA74592863	102	Q>H		No	ClinGen ESP TOPMed gnomAD
COSM1046366 COSM1046367 CA2409512 rs756120059	103	T>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1444171495 CA352909320	104	C>R		No	ClinGen gnomAD
CA2409511 rs201288866	105	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352909278 rs1411183141	106	A>V		No	ClinGen gnomAD
CA352909239 rs1466774865	109	P>S		No	ClinGen TOPMed
rs1473002751 CA352909233	110	G>R		No	ClinGen gnomAD
rs751769953 CA2409508	111	P>S		No	ClinGen ExAC gnomAD
CA352909209 rs758647857	112	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs766643349 CA2409507	112	H>R		No	ClinGen ExAC TOPMed gnomAD
CA2409505 rs750838123	113	G>D		No	ClinGen ExAC gnomAD
rs3733136 CA74592839	113	G>S		No	ClinGen TOPMed gnomAD
CA2409503 rs762364985	115	P>A		No	ClinGen ExAC gnomAD
CA2409501 rs766948497	116	G>S		No	ClinGen ExAC TOPMed
rs759263340 CA74592795	118	T>R		No	ClinGen Ensembl
rs759061215 CA2409498	122	V>E		No	ClinGen ExAC gnomAD
rs150064162 CA2409491	128	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769845082 CA2409492	128	A>T		No	ClinGen ExAC gnomAD
CA2409490 rs150064162	128	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747114710 CA2409488	130	P>R		No	ClinGen ExAC gnomAD
rs1367400298 CA352908950	130	P>S		No	ClinGen gnomAD
COSM1046364 rs1418875808 CA352908914 COSM1046363	131	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1179226986 CA352908896	132	L>P		No	ClinGen gnomAD
CA74592730 rs927919484	134	S>N		No	ClinGen Ensembl
CA74592717 rs983418076	137	S>C		No	ClinGen gnomAD
CA352908793 rs983418076	137	S>F		No	ClinGen gnomAD
rs147611537 CA2409485	137	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs779400641 CA2409484	138	S>R		No	ClinGen ExAC gnomAD
rs1216259052 COSM1538188 COSM1538187 CA352908740	140	Q>*	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs754286063 CA2409482	140	Q>P		No	ClinGen ExAC gnomAD
rs1225160127 CA352908704	141	G>D		No	ClinGen TOPMed gnomAD
CA352908712 rs1286281119	141	G>S		No	ClinGen gnomAD
CA2409481 rs370955872	142	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs759008251 CA2409480 COSM1046361 COSM1046360	142	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA74592671 rs920875630	146	H>R		No	ClinGen Ensembl
CA74592677 rs200634648	146	H>Y		No	ClinGen 1000Genomes
CA74592665 rs973524669	147	D>V		No	ClinGen Ensembl
CA2409476 rs762728421	150	P>A		No	ClinGen ExAC
CA2409475 rs772881545	150	P>L		No	ClinGen ExAC gnomAD
rs1399147552 CA352908496	151	Q>R		No	ClinGen gnomAD
CA352908467 rs1360998966	153	T>I		No	ClinGen gnomAD
CA74592636 rs965286563	154	A>T		No	ClinGen Ensembl
rs776668243 CA2409472	155	V>M		No	ClinGen ExAC gnomAD
rs768750229 CA2409471	159	A>S		No	ClinGen ExAC gnomAD
rs768750229 CA352908396	159	A>T		No	ClinGen ExAC gnomAD
rs747036471 CA2409470	159	A>V		No	ClinGen ExAC gnomAD
CA2409468 rs772179375	161	A>V		No	ClinGen ExAC gnomAD
CA2409467 rs746035372	163	L>F		No	ClinGen ExAC gnomAD
CA352908321 rs1277624397	164	F>Y		No	ClinGen TOPMed
rs1208496017 CA352908304	165	S>L		No	ClinGen gnomAD
CA2409466 rs779122609	166	A>T		No	ClinGen ExAC TOPMed gnomAD
rs987594044 CA74592616	168	H>Y		No	ClinGen gnomAD
rs1325143980 CA352908183	170	R>Q		No	ClinGen gnomAD
CA352908190 rs1219251258	170	R>W		No	ClinGen TOPMed gnomAD
rs1489074794 CA352908134	172	D>G		No	ClinGen TOPMed
CA2409463 rs778223436	172	D>N		No	ClinGen ExAC TOPMed gnomAD
CA352908049 rs1250187043	175	P>A		No	ClinGen TOPMed gnomAD
rs751022406 CA2409461	175	P>L		No	ClinGen ExAC gnomAD
CA2409458 rs151106960	176	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs998533480 CA74592580	177	C>Y		No	ClinGen Ensembl
CA352907921 rs1323633773	179	A>S		No	ClinGen gnomAD
rs1335119188 CA352907895	180	S>N		No	ClinGen gnomAD
rs1457659236 CA352907909	180	S>R		No	ClinGen TOPMed
CA2409456 rs761667058	181	P>L		No	ClinGen ExAC gnomAD
rs765008622 CA2409457	181	P>S		No	ClinGen ExAC gnomAD
CA2409453 rs760730814	183	G>R		No	ClinGen ExAC gnomAD
rs55633379 CA2409452 VAR_041770	185	R>C		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA352907742 rs1483138477	185	R>H		No	ClinGen gnomAD
rs1236526255 CA352907679	188	V>M		No	ClinGen gnomAD
rs772133008 CA2409451	189	V>A		No	ClinGen ExAC TOPMed gnomAD
CA74592515 rs894334058	192	G>S		No	ClinGen TOPMed gnomAD
CA2409450 rs745956869	192	G>V		No	ClinGen ExAC TOPMed gnomAD
rs771183521 CA2409448	194	A>D		No	ClinGen ExAC gnomAD
rs774518579 CA2409449	194	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2409446 rs778170442	196	Y>C		No	ClinGen ExAC gnomAD
rs1330718534 CA352907288	199	V>A		No	ClinGen gnomAD
rs748625701 CA2409444	199	V>M		No	ClinGen ExAC gnomAD
rs1338633573 CA352907245	201	S>F		No	ClinGen TOPMed
CA352907226 rs1309698463	202	S>*		No	ClinGen TOPMed
rs1575459736 CA352907199	203	L>R		No	ClinGen Ensembl
rs1356731794 CA352907197	204	D>H		No	ClinGen gnomAD
CA2409442 rs377677068	205	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA352907134 rs1415023482	206	A>P		No	ClinGen gnomAD
COSM3824193 rs761934572 COSM3824194 CA2409440	207	V>M	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1177397930 CA352907005	210	S>R		No	ClinGen TOPMed gnomAD
rs1201676003 CA352906967	212	S>N		No	ClinGen TOPMed
rs1252989414 CA352906957	213	P>A		No	ClinGen gnomAD
CA2409437 rs149238234	214	R>C		No	ClinGen ESP ExAC gnomAD
rs760399844 CA2409436	214	R>H		No	ClinGen ExAC TOPMed gnomAD
CA352906894 rs1179885946	215	S>L		No	ClinGen TOPMed
CA2409435 rs150176814	217	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2409434 rs767387553	218	I>L		No	ClinGen ExAC TOPMed gnomAD
rs759630862 CA2409433	218	I>N		No	ClinGen ExAC TOPMed gnomAD
rs767387553 CA352906836	218	I>V		No	ClinGen ExAC TOPMed gnomAD
rs774465428 CA2409432	219	R>G		No	ClinGen ExAC gnomAD
rs771132053 CA2409431	220	R>C		No	ClinGen ExAC TOPMed gnomAD
rs771132053 CA352906778	220	R>G		No	ClinGen ExAC TOPMed gnomAD
rs749581478 CA352906759	220	R>H		No	ClinGen ExAC TOPMed
rs749581478 CA74592373	220	R>L		No	ClinGen ExAC TOPMed
rs749581478 CA2409430	220	R>P		No	ClinGen ExAC TOPMed
rs1292256966 CA352906724	222	K>E		No	ClinGen TOPMed gnomAD
CA352906722 rs1292256966	222	K>Q		No	ClinGen TOPMed gnomAD
rs929332808 CA74592349	223	A>G		No	ClinGen TOPMed gnomAD
rs1457883384 CA352906693	223	A>P		No	ClinGen TOPMed gnomAD
rs929332808 CA352906684	223	A>V		No	ClinGen TOPMed gnomAD
rs201910184 CA74592336	224	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1312420806 CA352906630	225	A>D		No	ClinGen TOPMed
CA74592321 rs891415020	225	A>T		No	ClinGen TOPMed
rs770141981 CA2409426	226	S>L		No	ClinGen ExAC TOPMed gnomAD
CA74592310 rs770141981	226	S>W		No	ClinGen ExAC TOPMed gnomAD
CA352906588 rs1575459273	227	G>*		No	ClinGen Ensembl
CA2409424 rs781699542	227	G>V		No	ClinGen ExAC gnomAD
rs143724913 CA2409423	229	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2409422 rs745356207	230	P>A		No	ClinGen ExAC gnomAD
rs370892965 CA74592293	230	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs370892965 CA352906495	230	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs370892965 CA2409421	230	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA352906360 rs1224367583	234	A>G		No	ClinGen TOPMed gnomAD
CA352906358 rs1224367583	234	A>V		No	ClinGen TOPMed gnomAD
rs755899397 CA2409414	237	V>A		No	ClinGen ExAC gnomAD
CA2409413 rs752477020	239	P>H		No	ClinGen ExAC gnomAD
rs909064438 CA74592243	240	K>M		No	ClinGen TOPMed
CA352906115 rs1462120757	240	K>N		No	ClinGen gnomAD
rs1047641544 CA74592227	242	L>F		No	ClinGen TOPMed
rs1305500780 CA352906044	243	V>I		No	ClinGen gnomAD
CA2409411 rs759453105	244	S>F		No	ClinGen ExAC gnomAD
rs1453953464 CA352905926	245	Y>*		No	ClinGen gnomAD
rs373496497 CA2409410	245	Y>C		No	ClinGen ESP ExAC gnomAD
CA2409409 rs766382259	246	S>G		No	ClinGen ExAC gnomAD
rs763038886 CA2409408	247	I>T		No	ClinGen ExAC gnomAD
rs1559485166 CA543051931	249	Y>*		No	ClinGen Ensembl
rs762213233 CA2409405	250	V>A		No	ClinGen ExAC gnomAD
CA352905763 rs769946639	250	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2409406 rs769946639	250	V>M		No	ClinGen ExAC TOPMed gnomAD
CA74592186 rs929248121	252	S>R		No	ClinGen TOPMed gnomAD
CA74592135 rs976150449	254	H>Y		No	ClinGen TOPMed
rs965141042 CA74592126	255	T>K		No	ClinGen TOPMed
rs965141042 CA352905615	255	T>M		No	ClinGen TOPMed
CA352905619 rs1205521807	255	T>S		No	ClinGen gnomAD
CA2409400 rs770516541	256	G>*		No	ClinGen ExAC
rs748838073 CA2409399	256	G>E		No	ClinGen ExAC gnomAD
rs528072153 CA2409398	257	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA352905560 rs147876136	258	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1285746328 CA352905539	259	V>I		No	ClinGen TOPMed gnomAD
rs200938217 CA74592099	264	V>A		No	ClinGen Ensembl
rs375708072 CA74592096	266	P>A		No	ClinGen ESP TOPMed
CA2409394 rs372755312	266	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs145173827 CA2409393	269	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2409392 rs145173827	269	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs762985749 CA2409391	271	D>V		No	ClinGen ExAC TOPMed gnomAD
CA352905037 rs1575458453	277	H>N		No	ClinGen Ensembl
rs375394541 CA2409388	277	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1422863723 CA352904981	278	T>I		No	ClinGen TOPMed gnomAD
rs1422863723 CA352904984	278	T>K		No	ClinGen TOPMed gnomAD
CA74592073 rs201211696	279	R>C		No	ClinGen gnomAD
CA2409387 rs139753578	279	R>H		No	ClinGen ESP ExAC TOPMed
rs537552409 CA74592065	281	A>P		No	ClinGen Ensembl
CA352904822 rs1200160517	282	R>Q		No	ClinGen TOPMed gnomAD
CA2409384 rs373567723	282	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352904787 rs1291236252	284	S>N		No	ClinGen TOPMed
CA2409382 rs563414275	285	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352904689 rs1261076835	287	E>G		No	ClinGen TOPMed
CA352904687 rs1261076835	287	E>V		No	ClinGen TOPMed
rs1475152495 CA352904639	289	E>Q		No	ClinGen TOPMed
CA2409379 rs748786668	290	L>F		No	ClinGen ExAC gnomAD
CA2409378 rs777207707	291	G>D		No	ClinGen ExAC gnomAD
CA74592051 rs368432394	291	G>R		No	ClinGen Ensembl
rs769484967 CA2409377	293	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs780915614 CA2409375	294	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs747692134 CA2409376	294	R>W		No	ClinGen ExAC gnomAD
rs143752852 CA2409374	296	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2409372 rs779940852	298	L>R		No	ClinGen ExAC gnomAD
rs1165918613 CA352904309	299	D>H		No	ClinGen TOPMed gnomAD
rs777262370 CA74592003	300	C>R		No	ClinGen gnomAD
rs765160914 CA2409369	302	F>L		No	ClinGen ExAC gnomAD
CA352904126 rs1445423789	303	A>D		No	ClinGen gnomAD
rs1429453047 CA352904137	303	A>S		No	ClinGen TOPMed
CA352904071 rs1245205892	305	K>R		No	ClinGen gnomAD
rs553617101 CA2409368	306	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs553617101 CA74591991	306	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA2409366 rs200046052	306	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2409364 rs541331773	308	R>C		No	ClinGen 1000Genomes TOPMed gnomAD
COSM1215616 rs761090501 CA2409363 COSM1215615	308	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA352903927 rs761090501	308	R>P		No	ClinGen ExAC gnomAD
rs150736542 CA2409360	309	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs150736542 CA2409361	309	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2409362 rs776047479	309	R>W		No	ClinGen ExAC gnomAD
rs1382976247 CA352903875	310	G>E		No	ClinGen TOPMed gnomAD
rs201805638 CA352903853	311	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201805638 CA2409358	311	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2409357 rs201805638	311	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352903735 rs1334727093	314	G>C		No	ClinGen gnomAD
CA352903731 rs1473729899	314	G>D		No	ClinGen TOPMed
CA2409353 rs745900173	315	G>R		No	ClinGen ExAC TOPMed gnomAD
CA352903680 rs1160041042	316	Q>E		No	ClinGen TOPMed
rs779887853 CA2409351	318	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs1157152552 CA352903493	320	V>M		No	ClinGen gnomAD
CA2409349 rs199936316	321	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
VAR_006350 CA2409347 rs2230593	322	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs778931500 CA2409348	322	R>W		No	ClinGen ExAC TOPMed gnomAD
CA74591926 rs946807831	323	V>G		No	ClinGen TOPMed
CA352903371 rs1450357101	323	V>L		No	ClinGen gnomAD
CA352903184 rs1440811627	328	P>S		No	ClinGen TOPMed
CA2409339 rs759961320	329	V>A		No	ClinGen ExAC gnomAD
CA2409340 rs767928869	329	V>L		No	ClinGen ExAC TOPMed gnomAD
CA74591899 rs767928869	329	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1279583415 CA352903109	330	G>D		No	ClinGen gnomAD
rs1443745482 CA352903067	332	Q>*		No	ClinGen gnomAD
CA352903032 rs774766820	332	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA352903001 rs1180289284	333	L>F		No	ClinGen TOPMed
rs1302533559 CA352902978	333	L>R		No	ClinGen gnomAD
rs766874147 CA2409337	335	T>A		No	ClinGen ExAC gnomAD
rs766874147 CA352902930	335	T>P		No	ClinGen ExAC gnomAD
rs146988970 CA2409336	336	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs951251382 CA74591882	337	L>V		No	ClinGen Ensembl
CA352902757 rs776064681	339	I>M		No	ClinGen ExAC TOPMed gnomAD
rs201546006 CA74591871	340	A>T		No	ClinGen 1000Genomes gnomAD
CA2409333 rs760389915	341	E>K		No	ClinGen ExAC gnomAD
CA2409332 rs775113261	342	G>D		No	ClinGen ExAC gnomAD
CA352902648 rs1490934567	343	Q>*		No	ClinGen gnomAD
rs1559484132 CA352902549	345	V>A		No	ClinGen Ensembl
CA74591863 rs367549694	345	V>I		No	ClinGen ESP TOPMed gnomAD
rs1162227008 CA352902546	346	L>I		No	ClinGen gnomAD
rs1476650762 CA352902511	346	L>Q		No	ClinGen TOPMed gnomAD
CA2409330 rs745645623	348	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1449387678 CA352902430	348	G>R		No	ClinGen TOPMed
rs199531010 CA2409329	350	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749340310 CA2409327	352	T>I		No	ClinGen ExAC gnomAD
CA2409326 rs777931738	353	G>D		No	ClinGen ExAC gnomAD
CA352902181 rs1347342848	354	K>E		No	ClinGen gnomAD
rs756256535 CA2409325	355	D>G		No	ClinGen ExAC gnomAD
VAR_041771 CA2409324 rs35924402	356	G>D		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA352902057 rs781540107	357	G>A		No	ClinGen ExAC gnomAD
CA2409323 rs781540107	357	G>D		No	ClinGen ExAC gnomAD
COSM2850812 COSM2850813 rs751907940 CA2409321	360	V>M	liver central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1405494753 CA352901931	361	G>A		No	ClinGen gnomAD
rs1405494753 CA352901927	361	G>D		No	ClinGen gnomAD
CA2409320 rs766813181	362	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1177760334 CA352901915	362	P>S		No	ClinGen gnomAD
CA74591801 rs969672578	363	N>K		No	ClinGen TOPMed gnomAD
CA352901842 rs1186234509	365	V>A		No	ClinGen gnomAD
CA352901848 rs1490128134	365	V>I		No	ClinGen TOPMed gnomAD
CA2409318 rs750927544	366	V>I		No	ClinGen ExAC gnomAD
rs763654232 CA352901816	367	C>F		No	ClinGen ExAC TOPMed gnomAD
rs763654232 CA2409317	367	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs760157195 CA2409316	369	F>L		No	ClinGen ExAC gnomAD
rs1340049565 CA352901662	371	I>T		No	ClinGen gnomAD
CA2409315 rs775164621	371	I>V		No	ClinGen ExAC gnomAD
CA352901655 rs1203784972	372	D>H		No	ClinGen gnomAD
rs759271641 CA2409313	374	L>R		No	ClinGen ExAC TOPMed gnomAD
CA2409310 rs749302579	376	T>A		No	ClinGen ExAC gnomAD
rs1559483792 COSM1485323 COSM1485322 CA352901500	379	D>N	breast [Cosmic]	No	ClinGen cosmic curated Ensembl
rs752058321 CA74591716	381	G>D		No	ClinGen Ensembl
rs1052061067 CA74591711	382	V>M		No	ClinGen TOPMed
CA2409308 rs367939408	384	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1559483756 CA352901338	385	C>Y		No	ClinGen Ensembl
rs1226874518 CA352901285	387	E>D		No	ClinGen TOPMed gnomAD
rs1337425975 CA352901261	389	P>L		No	ClinGen gnomAD
rs933465276 CA74591707	393	G>S		No	ClinGen Ensembl
CA352901162 rs1471000039	394	L>F		No	ClinGen TOPMed gnomAD
rs770039457 CA2409307	395	R>G		No	ClinGen ExAC TOPMed gnomAD
CA352901138 rs766244325	395	R>P		No	ClinGen gnomAD
rs766244325 COSM396042 CA74591670 COSM396041	395	R>Q	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs770039457 CA74591686	395	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2409306 rs200626206	396	R>*		No	ClinGen ExAC TOPMed gnomAD
rs781591594 CA2409305	396	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2409303 rs199980524	398	L>P		No	ClinGen ExAC TOPMed gnomAD
rs771076988 CA74591626	399	D>G		No	ClinGen Ensembl
CA2409300 rs750979879	399	D>N		No	ClinGen ExAC TOPMed gnomAD
rs765704264 CA2409299	400	F>L		No	ClinGen ExAC TOPMed gnomAD
CA2409298 rs760210231	402	Q>H		No	ClinGen ExAC gnomAD
CA352901017 rs1462314271	402	Q>L		No	ClinGen gnomAD
CA2409297 rs371024286	403	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs570769592 CA2409295	405	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs773870489 CA2409294	408	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1316065683 CA352900894	409	N>S		No	ClinGen gnomAD
CA2409292 rs138579438	410	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352900870 rs138579438	410	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352898831 rs1419167855	411	P>L		No	ClinGen gnomAD
rs765913747 CA2409276	412	G>C		No	ClinGen ExAC TOPMed gnomAD
CA2409275 rs762868749	412	G>D		No	ClinGen ExAC gnomAD
rs773088776 CA2409274	415	A>V		No	ClinGen ExAC gnomAD
rs1224480734 CA352898720	417	S>C		No	ClinGen gnomAD
rs1443257862 CA352898699	418	P>S		No	ClinGen TOPMed
rs1214564944 CA352898663	419	N>K		No	ClinGen TOPMed gnomAD
CA352898668 rs1285225321	419	N>S		No	ClinGen TOPMed gnomAD
rs1471738292 CA352898642	420	T>I		No	ClinGen TOPMed
CA352898637 rs1164137652	421	S>G		No	ClinGen TOPMed
rs776422635 CA2409271	423	R>C		No	ClinGen ExAC gnomAD
rs376534011 CA2409270	423	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs376534011 CA352898537	423	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2409268 rs772233950	426	P>L		No	ClinGen ExAC gnomAD
rs772233950 CA2409267	426	P>R		No	ClinGen ExAC gnomAD
rs746244988 CA2409266	428	L>P		No	ClinGen ExAC gnomAD
CA352898383 rs1380891592	430	S>N		No	ClinGen TOPMed gnomAD
rs1396317503 CA352898324	432	S>N		No	ClinGen TOPMed
CA2409264 rs2230591	434	S>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_029238 rs2230591 CA2409263	434	S>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2409260 rs531433657	435	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2409259 rs200724473	435	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2409261 rs531433657	435	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1041249596 CA74589737	436	V>M		No	ClinGen Ensembl
CA2409258 rs758062806	437	D>E		No	ClinGen ExAC TOPMed gnomAD
rs2230592 RCV000965639 VAR_029239 CA2409256	440	N>S		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs763900897 CA2409253	445	P>A		No	ClinGen ExAC gnomAD
rs1054485487 CA74589722	447	Q>P		No	ClinGen TOPMed gnomAD
rs760832967 CA2409252	449	T>I		No	ClinGen ExAC gnomAD
rs199940178 CA2409251	455	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2409250 rs772287018	455	R>H		No	ClinGen ExAC TOPMed gnomAD
CA352897625 rs1326250251	456	L>H		No	ClinGen gnomAD
CA2409246 rs749582593	459	V>A		No	ClinGen ExAC gnomAD
rs771332656 CA2409247	459	V>I		No	ClinGen ExAC TOPMed gnomAD
rs149702837 CA2409245	460	T>I		No	ClinGen ESP ExAC gnomAD
CA2409244 rs139493185	462	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2409243 rs746538889	462	A>V		No	ClinGen ExAC TOPMed gnomAD
rs779781786 CA2409242	464	M>L		No	ClinGen ExAC gnomAD
rs34564898 CA2409241 VAR_041772	465	G>D		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs34564898 CA352897381	465	G>V		No	ClinGen ExAC TOPMed gnomAD
CA74589602 rs969729296	467	M>V		No	ClinGen gnomAD
CA352897283 rs1241538518	468	D>G		No	ClinGen gnomAD
CA2409240 rs778680733	468	D>H		No	ClinGen ExAC gnomAD
CA2409239 rs778680733	468	D>N		No	ClinGen ExAC gnomAD
CA2409238 COSM1046351 rs757151241 COSM1046352	470	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs867261592 CA74589565	470	R>H		No	ClinGen TOPMed gnomAD
CA352897156 rs1245507889	473	Q>R		No	ClinGen TOPMed gnomAD
CA2409226 rs748665458	476	L>M		No	ClinGen ExAC gnomAD
CA352896993 rs1179784947	477	V>F		No	ClinGen gnomAD
CA352896928 rs1433586284	479	S>*		No	ClinGen TOPMed
CA352896934 rs1249472448	479	S>T		No	ClinGen TOPMed
rs1200485625 CA352896731	486	V>L		No	ClinGen TOPMed
rs1375546204 CA352896582	491	L>M		No	ClinGen TOPMed
rs756804635 CA2409221	494	S>G		No	ClinGen ExAC gnomAD
rs148258933 CA2409218	498	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA2409217 rs752680436	499	Q>*		No	ClinGen ExAC gnomAD
CA352896341 rs755080567	500	R>P		No	ClinGen ExAC TOPMed gnomAD
CA2409215 rs755080567	500	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs767408780 CA2409216	500	R>W		No	ClinGen ExAC TOPMed gnomAD
CA352896331 rs1299694918	501	D>G		No	ClinGen TOPMed
CA2409214 rs149591175	502	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA2409213 rs34350470 VAR_041773	504	R>C		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs138183686 CA2409211	504	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2409210 rs138183686	504	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138183686 CA2409212	504	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1202305542 CA352896236	506	G>R		No	ClinGen TOPMed
CA74589386 rs777312294	507	D>G		No	ClinGen ExAC TOPMed gnomAD
rs777312294 CA2409208	507	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1479646823 CA352896176	508	H>Y		No	ClinGen TOPMed gnomAD
rs377146279 CA2409207	509	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2409206 rs138805980	511	F>L		No	ClinGen ESP ExAC gnomAD
rs1250976205 CA352896047	512	A>V		No	ClinGen TOPMed
CA352896021 rs1490393458	514	G>R		No	ClinGen gnomAD
rs1453366913 CA352895999	515	D>Y		No	ClinGen TOPMed
rs773931700 CA2409205	516	Q>R		No	ClinGen ExAC gnomAD
CA74589141 rs917476648	518	F>L		No	ClinGen TOPMed
rs1321262917 CA352895702	519	Q>H		No	ClinGen gnomAD
CA352895710 rs1413965501	519	Q>R		No	ClinGen TOPMed
rs200821496 CA74589138	520	V>I		No	ClinGen ExAC TOPMed gnomAD
rs200821496 CA2409189	520	V>L		No	ClinGen ExAC TOPMed gnomAD
rs764704133 CA2409188	521	P>L		No	ClinGen ExAC gnomAD
rs761331828 CA2409187	522	I>L		No	ClinGen ExAC TOPMed gnomAD
CA352895614 rs1268613480	522	I>M		No	ClinGen gnomAD
rs761331828 CA352895650	522	I>V		No	ClinGen ExAC TOPMed gnomAD
CA352895608 rs141097970	523	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141097970 CA2409186	523	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352895587 rs2230590	523	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_041774 rs2230590 CA2409185	523	Q>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs748799741 CA2409184	524	G>V		No	ClinGen ExAC gnomAD
CA352895535 rs1405982585	525	P>L		No	ClinGen gnomAD
CA2409183 rs772769042	528	R>C		No	ClinGen ExAC TOPMed gnomAD
rs973840829 CA74589111	528	R>H		No	ClinGen TOPMed gnomAD
rs1417878390 CA352895427	529	H>Y		No	ClinGen TOPMed gnomAD
CA2409182 rs769437806	532	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1238517410 CA352895292	533	C>Y		No	ClinGen gnomAD
rs201544530 CA352895235	535	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2409180 rs201544530	535	R>G		No	ClinGen ExAC TOPMed gnomAD
rs779808712 CA2409179	535	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1459639816 CA352895179	536	C>S		No	ClinGen gnomAD
CA74589068 rs980859408	539	A>S		No	ClinGen Ensembl
CA2409178 rs747000944	540	W>C		No	ClinGen ExAC gnomAD
CA2409177 rs780013625	541	H>Y		No	ClinGen ExAC gnomAD
CA2409175 rs376462242	543	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs376462242 CA352895010	543	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs758441924 CA2409176	543	M>V		No	ClinGen ExAC TOPMed gnomAD
CA352894999 rs1237486360	544	G>S		No	ClinGen TOPMed
rs991951515 CA74589043	547	W>*		No	ClinGen Ensembl
rs201252584 CA2409174	548	C>G		No	ClinGen ExAC gnomAD
rs757489935 CA2409173	548	C>W		No	ClinGen ExAC gnomAD
CA2409171 rs764611937	549	G>V		No	ClinGen ExAC
CA2409172 rs754107970	549	G>W		No	ClinGen ExAC gnomAD
CA2409170 rs761098601	550	N>D		No	ClinGen ExAC gnomAD
rs753184382 CA2409169	550	N>K		No	ClinGen ExAC gnomAD
rs762390212 CA2409167	551	M>R		No	ClinGen ExAC gnomAD
CA2409166 rs762390212	551	M>T		No	ClinGen ExAC gnomAD
rs374311934 CA352894693	553	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA352894694 rs374311934	553	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs374311934 CA2409164	553	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2409163 rs761516334	555	Q>P		No	ClinGen ExAC
CA2409162 rs776249322	557	E>D		No	ClinGen ExAC gnomAD
CA2409161 rs768484083	559	P>A		No	ClinGen ExAC gnomAD
rs1406310241 CA352894552	559	P>L		No	ClinGen TOPMed
rs369882414 CA2409160	560	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1384024256 CA352894497	561	S>F		No	ClinGen gnomAD
CA352894460 rs1193648549	563	Q>K		No	ClinGen Ensembl
rs779881041 CA2409159	564	Q>*		No	ClinGen ExAC gnomAD
rs144558604 CA2409157	565	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA352894353 rs1203545854	566	H>L		No	ClinGen gnomAD
rs1244120258 CA352894313	568	P>L		No	ClinGen gnomAD
CA2409156 rs779117766	568	P>S		No	ClinGen ExAC gnomAD
rs1359024252 CA352894297	569	P>R		No	ClinGen gnomAD
rs996723975 CA74588984	570	K>T		No	ClinGen TOPMed
CA352894238 rs1559479162	572	T>I		No	ClinGen Ensembl
rs757400054 CA2409155	573	E>A		No	ClinGen ExAC TOPMed
rs757400054 CA74588973	573	E>G		No	ClinGen ExAC TOPMed
rs191131637 CA2409131	575	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs142020857 CA2409130	577	H>N		No	ClinGen ESP ExAC gnomAD
CA352894079 rs1457668708	577	H>R		No	ClinGen gnomAD
rs142020857 CA352894089	577	H>Y		No	ClinGen ESP ExAC gnomAD
CA74588703 rs920026653	578	S>G		No	ClinGen TOPMed gnomAD
rs752154681 CA2409129	578	S>N		No	ClinGen ExAC gnomAD
CA352894014 rs1268276334	580	P>L		No	ClinGen gnomAD
CA2409128 rs766834326	582	R>M		No	ClinGen ExAC gnomAD
CA2409126 rs753291675	583	G>D		No	ClinGen ExAC gnomAD
CA2409127 rs756784862	583	G>S		No	ClinGen ExAC gnomAD
CA74588665 rs371213657	590	C>G		No	ClinGen gnomAD
rs1332084619 CA352893875	590	C>Y		No	ClinGen gnomAD
CA352893841 rs1229410123	592	S>C		No	ClinGen TOPMed
CA352893783 rs1292386964	595	Y>C		No	ClinGen TOPMed
CA352893755 rs1213247578	596	L>R		No	ClinGen TOPMed
rs767395512 CA2409122	599	S>T		No	ClinGen ExAC TOPMed gnomAD
CA2409121 rs759222285	599	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA2409119 rs770941584	602	V>L		No	ClinGen ExAC gnomAD
rs200292266 CA2409118	605	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA352893652 rs1475007380	605	G>R		No	ClinGen TOPMed
rs1174236592 CA352893626	606	T>I		No	ClinGen gnomAD
rs371643033 CA2409117	607	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2409116 rs368225168	608	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1575443917 CA352893546	611	V>A		No	ClinGen Ensembl
RCV000454853 VAR_041775 CA2409112 rs35986685 RCV000515037	613	Q>P		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2409111 rs755407358	614	S>N		No	ClinGen ExAC gnomAD
CA352893452 rs1466365948	616	C>*		No	ClinGen gnomAD
rs372059299 CA352893442	617	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2409109 COSM1046349 COSM1046348 rs372059299	617	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA2409110 rs747290036	617	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1365992903 CA352893429	618	P>L		No	ClinGen gnomAD
CA352893408 rs1346355302	620	P>S		No	ClinGen gnomAD
RCV000901781 CA2409106 rs9819888	621	K>*		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2409107 rs9819888	621	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1001464861 CA74588529	622	D>E		No	ClinGen Ensembl
CA2409104 rs752436645	623	S>G		No	ClinGen ExAC TOPMed gnomAD
rs147926223 CA2409103	623	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1334142739 CA352893281	627	R>G		No	ClinGen gnomAD
rs1406001712 CA352891605	630	P>H		No	ClinGen gnomAD
rs1406001712 CA352891604	630	P>R		No	ClinGen gnomAD
COSM1258009 COSM1258010 rs370774556 CA2409070	631	R>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs760946033 CA2409071	631	R>W		No	ClinGen ExAC gnomAD
CA2409069 rs772468334	632	K>I		No	ClinGen ExAC gnomAD
rs746192005 CA2409068	632	K>N		No	ClinGen ExAC TOPMed gnomAD
rs771282154 CA2409066	633	D>E		No	ClinGen ExAC gnomAD
CA2409067 rs779495689	633	D>G		No	ClinGen ExAC gnomAD
CA74586667 rs779495689	633	D>V		No	ClinGen ExAC gnomAD
CA352891525 rs1479698375	634	F>C		No	ClinGen gnomAD
CA352891501 rs1244592387	635	V>A		No	ClinGen gnomAD
CA2409065 rs376241433	639	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA907848163 rs1460972383	640	C>*		No	ClinGen TOPMed
CA2409064 rs780633187	642	L>Q		No	ClinGen ExAC gnomAD
rs912543527 CA74586645	644	P>S		No	ClinGen TOPMed gnomAD
CA352891265 rs1268792118	646	G>C		No	ClinGen TOPMed gnomAD
CA2409063 rs754518664	646	G>D		No	ClinGen ExAC gnomAD
CA352891245 rs1575442524	647	T>P		No	ClinGen Ensembl
CA352891189 rs1239622228	648	Q>H		No	ClinGen Ensembl
CA2409061 rs779818952	652	P>L		No	ClinGen ExAC gnomAD
CA352891071 rs1370595055	653	T>P		No	ClinGen TOPMed
CA74586562 rs562051906	654	N>D		No	ClinGen 1000Genomes
CA2409060 rs750188753	654	N>K		No	ClinGen ExAC TOPMed gnomAD
COSM1471654 CA2409057 rs1309171612 COSM1471655	655	V>I	prostate [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1250482245 CA352890892	658	T>I		No	ClinGen TOPMed
CA352890872 rs1434539087	659	V>A		No	ClinGen gnomAD
rs764130453 CA2409053	659	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1282241572 CA352890854	661	N>D		No	ClinGen TOPMed gnomAD
CA352890830 rs1467807778	662	M>L		No	ClinGen TOPMed
rs760715021 CA352890793	663	P>L		No	ClinGen ExAC TOPMed gnomAD
rs760715021 CA2409052	663	P>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1046346 CA2409051 rs535567428 COSM1046345	664	P>L	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA352890783 rs1427192436	664	P>S		No	ClinGen TOPMed
CA74586511 rs1001672888	666	K>M		No	ClinGen TOPMed
rs1424842087 CA352890737	667	H>R		No	ClinGen gnomAD
CA74586503 rs899351560	669	R>Q		No	ClinGen TOPMed gnomAD
CA2409049 rs771121262	669	R>W		No	ClinGen ExAC gnomAD
rs1559477633 CA352890641	670	V>L		No	ClinGen Ensembl
CA2409046 rs374088039	671	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2409047 rs771321348	671	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1394020116 CA352890622	671	D>N		No	ClinGen TOPMed
COSM3824192 rs768318968 CA2409044 COSM3824191	672	G>S	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA352890507 rs1470977600	673	T>I		No	ClinGen TOPMed gnomAD
CA352890520 rs1210455991	673	T>P		No	ClinGen gnomAD
CA352890511 rs1470977600	673	T>S		No	ClinGen TOPMed gnomAD
rs1277564624 CA352890471	675	V>M		No	ClinGen TOPMed gnomAD
CA2409040 rs377444651	677	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2409041 rs377444651	677	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2409039 rs778635013	678	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1023763389 CA74586441	681	F>S		No	ClinGen TOPMed
CA352890297 rs1366088698	682	M>T		No	ClinGen gnomAD
rs753760334 CA2409037	682	M>V		No	ClinGen ExAC gnomAD
rs745561099 CA2409021	683	E>D		No	ClinGen ExAC gnomAD
rs1559477322 CA352890049	687	I>M		No	ClinGen Ensembl
CA352890015 rs1575441548	689	V>A		No	ClinGen Ensembl
CA2409019 rs757033962	689	V>M		No	ClinGen ExAC TOPMed gnomAD
rs61734381 RCV000972703 CA2409016	690	Q>*		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA74586227 rs925816301	691	P>H		No	ClinGen TOPMed gnomAD
CA352889982 rs925816301	691	P>R		No	ClinGen TOPMed gnomAD
rs1553626160 CA2409014	692	L>P		No	ClinGen Ensembl
rs1169924280 CA352889950	693	F>V		No	ClinGen gnomAD
CA74586202 rs900292683	694	G>S		No	ClinGen TOPMed
CA2409010 rs148694532	696	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs148694532 CA74586193	696	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs573668188 CA2409011	696	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767641458 CA2409009	697	A>T		No	ClinGen ExAC TOPMed gnomAD
CA352889810 rs1249300282	699	G>D		No	ClinGen gnomAD
rs755063677 CA352889803	700	T>A		No	ClinGen ExAC gnomAD
CA2409007 rs751765387	700	T>I		No	ClinGen ExAC gnomAD
rs755063677 CA2409008	700	T>S		No	ClinGen ExAC gnomAD
CA352889704 rs1575441376	703	T>I		No	ClinGen Ensembl
rs1318537257 CA352889696	704	L>F		No	ClinGen TOPMed gnomAD
rs1321241168 CA352889683	704	L>P		No	ClinGen gnomAD
rs763246446 CA2409005	705	E>K		No	ClinGen ExAC gnomAD
rs369232203 CA2409004	707	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs765694787 CA2409003	707	Q>R		No	ClinGen ExAC gnomAD
rs145062208 CA2409001	708	S>R		No	ClinGen ESP TOPMed
CA352889562 rs1436466026	708	S>R		No	ClinGen TOPMed
rs771748919 CA2408998	710	S>A		No	ClinGen ExAC gnomAD
rs771748919 CA2408999	710	S>P		No	ClinGen ExAC gnomAD
CA352889466 rs1350724974	711	V>I		No	ClinGen gnomAD
CA2408996 rs773899277	714	S>R		No	ClinGen ExAC gnomAD
CA352889390 rs375003602	715	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs777611015 CA2408993	715	R>L		No	ClinGen ExAC gnomAD
CA2408994 rs777611015	715	R>Q		No	ClinGen ExAC gnomAD
CA2408995 rs375003602	715	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA2408992 rs769562989	717	V>M		No	ClinGen ExAC TOPMed gnomAD
rs960039842 CA74586077	719	V>I		No	ClinGen TOPMed
CA2408990 rs781071910	720	N>D		No	ClinGen ExAC TOPMed gnomAD
CA352889272 rs781071910	720	N>H		No	ClinGen ExAC TOPMed gnomAD
rs747075614 CA2408989	720	N>S		No	ClinGen ExAC gnomAD
rs780150009 CA2408986	728	R>Q		No	ClinGen ExAC gnomAD
CA2408987 rs201008581	728	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352888900 rs1447912459	730	S>G		No	ClinGen gnomAD
rs1389587758 CA352888879	731	E>*		No	ClinGen gnomAD
rs916851357 CA352888874	731	E>D		No	ClinGen TOPMed gnomAD
CA352888873 rs916851357	731	E>D		No	ClinGen TOPMed gnomAD
CA2408970 rs570208396	732	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2408969 rs139163994	733	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA74585642 rs960893823	733	Q>P		No	ClinGen TOPMed gnomAD
CA2408968 rs758389040	734	L>P		No	ClinGen ExAC gnomAD
rs1487887311 CA352888794	737	A>V		No	ClinGen TOPMed
rs1296150290 CA352888770	739	P>A		No	ClinGen TOPMed gnomAD
CA352888772 rs1296150290	739	P>T		No	ClinGen TOPMed gnomAD
CA352888748 rs1310532007	740	P>H		No	ClinGen gnomAD
CA352888750 rs1328120561	740	P>S		No	ClinGen gnomAD
CA352888702 rs1395215720	742	A>S		No	ClinGen TOPMed gnomAD
rs1395215720 CA352888709	742	A>T		No	ClinGen TOPMed gnomAD
CA2408964 rs757719557	743	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1559476190 CA352888647	745	A>T		No	ClinGen Ensembl
CA2408962 rs141826709	747	V>F		No	ClinGen ESP ExAC gnomAD
CA352888562 rs1187527916	748	P>S		No	ClinGen gnomAD
CA2408960 rs753129319	749	L>V		No	ClinGen ExAC gnomAD
rs1481859748 CA352888502	750	S>I		No	ClinGen gnomAD
rs373011434 CA2408959	750	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA352888471 rs1205210710	752	Q>K		No	ClinGen gnomAD
CA352888436 rs1575439776	753	V>G		No	ClinGen Ensembl
CA352888424 rs1263192467	754	G>R		No	ClinGen TOPMed gnomAD
CA352888422 rs1263192467	754	G>W		No	ClinGen TOPMed gnomAD
CA2408955 rs761606392	755	G>A		No	ClinGen ExAC gnomAD
rs1340997992 CA352888408	755	G>C		No	ClinGen gnomAD
CA352888392 rs761606392	755	G>V		No	ClinGen ExAC gnomAD
rs375227799 CA352888384	756	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs375227799 CA2408954	756	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs768326110 CA2408953	759	P>H		No	ClinGen ExAC TOPMed gnomAD
rs768326110 CA352888305	759	P>L		No	ClinGen ExAC TOPMed gnomAD
rs868140197 CA74585514	761	S>F		No	ClinGen Ensembl
CA352888242 rs1162773520	762	W>*		No	ClinGen gnomAD
rs1388614558 CA352888257	762	W>R		No	ClinGen gnomAD
CA2408952 rs747019700	763	T>A		No	ClinGen ExAC gnomAD
CA352888236 rs747019700	763	T>P		No	ClinGen ExAC gnomAD
CA352888209 rs1420723677	764	F>S		No	ClinGen gnomAD
CA2408951 rs200242275	765	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352888166 rs1250580860	766	Y>D		No	ClinGen gnomAD
rs1250580860 CA352888169	766	Y>H		No	ClinGen gnomAD
rs1575439575 CA352888153	767	R>G		No	ClinGen Ensembl
rs1282343712 CA352888130	768	E>K		No	ClinGen TOPMed
rs1007032473 CA74585479	769	D>H		No	ClinGen TOPMed gnomAD
CA2408949 rs148081612	772	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1208740257 CA352888050	773	L>V		No	ClinGen gnomAD
CA352888013 rs1356947895	776	S>G		No	ClinGen gnomAD
rs1226314814 CA352887989	777	P>L		No	ClinGen gnomAD
CA2408948 rs149428633	778	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2408947 rs149428633	778	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1241409743 CA352887935	780	G>D		No	ClinGen gnomAD
rs1288776463 CA352887950	780	G>S		No	ClinGen gnomAD
rs1322954507 CA352887913	782	I>N		No	ClinGen gnomAD
CA352887914 rs1322954507	782	I>T		No	ClinGen gnomAD
rs760348454 CA2408934	784	S>A		No	ClinGen ExAC gnomAD
CA2408932 rs199894526	785	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA2408931 rs745953203	786	I>V		No	ClinGen ExAC gnomAD
CA2408929 rs771119392	787	T>A		No	ClinGen ExAC TOPMed gnomAD
rs980152833 CA74585300	788	I>M		No	ClinGen TOPMed gnomAD
rs749568401 CA2408928	790	G>V		No	ClinGen ExAC gnomAD
CA2408926 rs756528902	793	L>V		No	ClinGen ExAC gnomAD
rs1232451925 CA352887727	795	S>*		No	ClinGen TOPMed
rs1272472014 CA352887696	797	W>*		No	ClinGen TOPMed gnomAD
CA2408924 rs781728873	797	W>R		No	ClinGen ExAC gnomAD
CA352887637 rs1448216239	801	L>M		No	ClinGen TOPMed gnomAD
CA2408921 rs778446100	806	G>E		No	ClinGen ExAC gnomAD
CA2408922 rs528906916	806	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA352887476 rs1194943794	810	V>L		No	ClinGen TOPMed
CA2408920 rs756729964	811	E>V		No	ClinGen ExAC gnomAD
CA2408919 rs753559922	812	S>G		No	ClinGen ExAC gnomAD
CA2408918 rs763606008	812	S>N		No	ClinGen ExAC TOPMed gnomAD
CA74585044 rs1017880415	814	C>S		No	ClinGen TOPMed gnomAD
RCV000884682 CA2408898 rs568328214	815	E>Q		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA352887342 rs1387025479	816	R>K		No	ClinGen TOPMed
rs375573917 RCV000976524 CA2408897	822	Q>E		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA2408895 rs369879445	825	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2408894 rs759370688	825	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2408893 rs751575573	827	P>S		No	ClinGen ExAC gnomAD
rs758405523 CA2408891	828	E>D		No	ClinGen ExAC TOPMed gnomAD
rs766366511 CA2408892	828	E>K		No	ClinGen ExAC TOPMed gnomAD
CA352887167 rs1215868324	831	V>F		No	ClinGen TOPMed
CA2408890 rs377577327	832	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3696165 rs769911110 COSM3696164 CA2408889	832	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2408888 rs761997484	833	D>E		No	ClinGen ExAC gnomAD
rs372453584 CA2408887	834	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1409441788 CA352887128	835	Q>*		No	ClinGen gnomAD
CA2408886 rs769040919	835	Q>R		No	ClinGen ExAC gnomAD
rs1419838079 CA352887101	837	W>*		No	ClinGen gnomAD
CA2408885 rs747325896	840	G>R		No	ClinGen ExAC gnomAD
rs1180517181 CA352887057	844	A>D		No	ClinGen TOPMed
rs750582514 CA2408884	845	R>*		No	ClinGen ExAC TOPMed gnomAD
CA2408883 rs772397266 COSM446732 COSM446731	845	R>Q	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1253726270 CA352887031	849	A>T		No	ClinGen gnomAD
CA2408882 rs746385561	850	A>T		No	ClinGen ExAC gnomAD
rs868072512 CA74584838	851	G>S		No	ClinGen Ensembl
CA2408881 rs369034266	851	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs199940953 CA2408879	853	T>I		No	ClinGen ExAC gnomAD
rs1055067268 CA74584815	854	L>Q		No	ClinGen Ensembl
rs755358799 CA2408877	856	G>V		No	ClinGen ExAC gnomAD
rs751338048 CA2408876	858	R>C		No	ClinGen ExAC TOPMed gnomAD
CA352886969 rs751338048	858	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2408875 rs140736052	858	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs758333439 CA2408874	862	P>A		No	ClinGen ExAC gnomAD
rs750360885 CA2408873	862	P>L		No	ClinGen ExAC gnomAD
COSM1215619 COSM1215620 rs1376039698 CA352886911	863	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA2408872 rs551149864	863	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs928266555 CA74584726	864	H>Y		No	ClinGen Ensembl
CA2408870 rs776861834	866	P>R		No	ClinGen ExAC gnomAD
rs761033628 CA2408868	867	S>T		No	ClinGen ExAC gnomAD
CA352886859 rs1300923539	868	A>T		No	ClinGen TOPMed
CA2408867 rs775904867	869	N>H		No	ClinGen ExAC TOPMed
CA2408866 rs772475555	869	N>S		No	ClinGen ExAC TOPMed gnomAD
CA352886831 rs1448188025	870	L>R		No	ClinGen gnomAD
CA352886825 rs1308474634	871	V>L		No	ClinGen TOPMed
rs576609097 CA74584676	872	P>Q		No	ClinGen gnomAD
CA74584681 rs746415001	872	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2408865 rs746415001	872	P>T		No	ClinGen ExAC TOPMed gnomAD
CA352886804 rs1281627407	873	L>M		No	ClinGen TOPMed
CA2408862 rs747609308	880	I>V		No	ClinGen ExAC gnomAD
rs781000755 CA2408861	881	K>M		No	ClinGen ExAC TOPMed gnomAD
rs781000755 CA74584621	881	K>T		No	ClinGen ExAC TOPMed gnomAD
CA352886669 rs1208438242	883	E>Q		No	ClinGen TOPMed
CA352886603 rs1442424422	885	I>M		No	ClinGen TOPMed
rs1339522017 CA352886611	885	I>V		No	ClinGen gnomAD
CA74584417 COSM1309289 COSM1309290 rs923422767	889	A>T	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
CA2408842 rs746705991	889	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1350606196 CA352886559	891	A>S		No	ClinGen TOPMed
CA2408841 rs369621893	892	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352886540 rs1310293509	893	C>R		No	ClinGen gnomAD
rs771786833 CA2408840	893	C>Y		No	ClinGen ExAC gnomAD
rs964859015 CA74584361	895	G>R		No	ClinGen TOPMed
CA352886515 rs1575437413	895	G>V		No	ClinGen Ensembl
rs1408257602 CA352886512	896	I>L		No	ClinGen gnomAD
rs778720616 CA2408837	897	N>H		No	ClinGen ExAC gnomAD
CA2408836 rs757252933	897	N>S		No	ClinGen ExAC gnomAD
rs1031624199 CA74584314	898	V>M		No	ClinGen TOPMed gnomAD
CA2408834 VAR_041776 rs56091918	900	V>M		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA2408833 rs756157918	901	G>S		No	ClinGen ExAC gnomAD
rs752950485 CA2408832	902	G>D		No	ClinGen ExAC gnomAD
rs767728277 CA2408831	903	E>K		No	ClinGen ExAC gnomAD
rs1249136894 CA352886445	906	Q>*		No	ClinGen gnomAD
rs759828393 CA2408830	906	Q>P		No	ClinGen ExAC gnomAD
rs759828393 CA352886444	906	Q>R		No	ClinGen ExAC gnomAD
rs61729096 CA352886434	907	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs61729096 CA2408829	907	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs372578503 CA2408828	908	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA74584242 rs372578503	908	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA74584215 rs201953002	910	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2408826 RCV000925756 rs201953002	910	R>Q		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA2408827 rs368644133	910	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs377295107 CA2408823	913	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA352886379 rs1372579415	915	V>I		No	ClinGen TOPMed
rs1325886957 CA352886355	916	C>*		No	ClinGen gnomAD
rs775020612 CA2408821	916	C>F		No	ClinGen ExAC gnomAD
CA2408819 rs149584908	924	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA2408818 rs778829603	925	G>S		No	ClinGen ExAC TOPMed gnomAD
CA352886204 rs1362905263	926	Q>*		No	ClinGen gnomAD
CA352886194 rs777650286	927	D>H		No	ClinGen ExAC TOPMed gnomAD
CA2408816 rs777650286	927	D>N		No	ClinGen ExAC TOPMed gnomAD
rs777650286 CA2408815	927	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs150824053 CA2408814	928	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA352886175 rs1420417574	928	G>S		No	ClinGen gnomAD
CA2408813 rs752761832	929	A>T		No	ClinGen ExAC gnomAD
rs1468884721 CA352886144	929	A>V		No	ClinGen TOPMed gnomAD
rs781271350 CA2408812	930	P>S		No	ClinGen ExAC gnomAD
CA352886048 rs1575436777	933	V>G		No	ClinGen Ensembl
rs1235171903 CA352886017	935	V>G		No	ClinGen gnomAD
rs749037053 CA2408797	935	V>I		No	ClinGen ExAC gnomAD
CA2408796 rs773143700	936	D>N		No	ClinGen ExAC gnomAD
CA2408795 rs769648755	937	G>A		No	ClinGen ExAC gnomAD
CA74583949 rs766023928	937	G>S		No	ClinGen Ensembl
CA2408794 rs748027850	938	E>A		No	ClinGen ExAC gnomAD
rs1575436688 CA352885945	939	C>W		No	ClinGen Ensembl
CA74583888 rs1047942567	942	L>R		No	ClinGen TOPMed
CA2408793 rs147303179	943	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1383507402 CA352885876	944	R>K		No	ClinGen gnomAD
rs13078735 CA74583883	946	V>L		No	ClinGen ExAC TOPMed gnomAD
rs13078735 CA2408791	946	V>M		No	ClinGen ExAC TOPMed gnomAD
CA74583854 rs750752822	947	R>P		No	ClinGen ExAC TOPMed gnomAD
CA2408788 rs750752822	947	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2408789 rs199970256	947	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA74583830 rs979701660	949	G>R		No	ClinGen TOPMed gnomAD
rs201836399 CA2408786	950	P>L		No	ClinGen ESP ExAC gnomAD
CA2408785 rs754281140	952	G>R		No	ClinGen ExAC TOPMed gnomAD
CA352885796 rs754281140	952	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1257164528 CA352885743	954	P>L		No	ClinGen gnomAD
CA2408784 rs767098895	956	S>N		No	ClinGen ExAC gnomAD
CA2408783 rs143096514	957	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371300845 CA2408782	958	L>P		No	ClinGen ESP ExAC gnomAD
rs910324914 CA74583793	958	L>V		No	ClinGen Ensembl
CA352884698 rs1422009218	959	L>F		No	ClinGen TOPMed
rs765954489 CA2408781	960	G>S		No	ClinGen ExAC gnomAD
rs199618569 CA2408780	961	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1446332686 CA352884687	961	I>V		No	ClinGen gnomAD
CA352884656 rs1559474077	966	L>M		No	ClinGen Ensembl
CA352884639 rs1331253252	969	V>M		No	ClinGen TOPMed gnomAD
rs1415030187 CA352884625	971	A>V		No	ClinGen gnomAD
CA352884622 rs1376670304	972	L>V		No	ClinGen TOPMed gnomAD
CA352884615 rs769560872	973	A>G		No	ClinGen ExAC TOPMed gnomAD
CA352884617 rs773053723	973	A>S		No	ClinGen ExAC TOPMed gnomAD
rs769560872 CA2408778	973	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1474138235 CA352884603	975	A>V		No	ClinGen gnomAD
CA2408773 rs780430205	977	V>I		No	ClinGen ExAC gnomAD
CA2408772 rs201567076	979	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA352884566 rs1438867884	981	W>*		No	ClinGen gnomAD
rs1021431208 CA74583645	982	W>*		No	ClinGen Ensembl
CA2408771 rs746075369	982	W>C		No	ClinGen ExAC gnomAD
CA74583651 rs557923113	982	W>R		No	ClinGen Ensembl
rs375697146 CA2408769	983	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs200766923 CA2408770	983	R>W		No	ClinGen ExAC TOPMed gnomAD
CA352884549 rs1294293276	984	R>K		No	ClinGen gnomAD
CA2408768 rs754405051	986	Q>H		No	ClinGen ExAC gnomAD
CA352884508 rs1395342846	989	L>I		No	ClinGen TOPMed
rs753187378 CA2408747	989	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1485066264 CA352884488	992	N>S		No	ClinGen gnomAD
rs376288179 CA2408745	993	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA352884458 rs1317167135	997	A>P		No	ClinGen gnomAD
rs750104839 CA2408744	998	S>F		No	ClinGen ExAC gnomAD
CA2408743 rs764747377	999	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1347053790 CA352884442	1000	D>Y		No	ClinGen gnomAD
CA352884433 rs1388460319	1001	Q>R		No	ClinGen gnomAD
rs373080529 CA2408742	1003	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2408740 rs753644086	1006	T>A		No	ClinGen ExAC gnomAD
CA2408738 rs760746470	1010	I>V		No	ClinGen ExAC TOPMed gnomAD
CA2408737 rs775538583	1011	L>M		No	ClinGen ExAC TOPMed gnomAD
CA2408736 rs772312999	1012	Y>*		No	ClinGen ExAC gnomAD
rs759642387 CA2408735	1013	S>L		No	ClinGen ExAC TOPMed gnomAD
CA74583346 rs146747970	1014	G>V		No	ClinGen ESP
rs552906756 CA74583333	1017	Y>C		No	ClinGen 1000Genomes
CA352884323 rs1211151144	1019	S>R		No	ClinGen TOPMed
rs770995791 CA2408733	1019	S>T		No	ClinGen ExAC
CA352884287 rs1250752643	1022	A>V		No	ClinGen gnomAD
rs1205157741 CA352884282	1023	L>F		No	ClinGen gnomAD
rs747502118 CA2408707	1026	I>M		No	ClinGen ExAC gnomAD
CA2408708 rs769083705	1026	I>T		No	ClinGen ExAC TOPMed gnomAD
CA2408706 rs778336216	1027	D>G		No	ClinGen ExAC
rs748925359 CA352884236	1028	G>A		No	ClinGen ExAC TOPMed gnomAD
rs748925359 CA2408704	1028	G>D		No	ClinGen ExAC TOPMed gnomAD
CA2408705 rs756762750	1028	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1314902364 CA352884215	1030	D>E		No	ClinGen gnomAD
rs777437006 CA2408703	1033	T>A		No	ClinGen ExAC gnomAD
CA2408702 rs372766759	1034	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs767119482 CA74583157	1035	V>D		No	ClinGen Ensembl
rs558651390 CA2408701	1035	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1392686575 CA352884164	1036	H>R		No	ClinGen gnomAD
rs767419395 CA2408700	1036	H>Y		No	ClinGen ExAC gnomAD
rs751488352 CA2408698	1038	A>P		No	ClinGen ExAC TOPMed gnomAD
rs751488352 CA2408699	1038	A>S		No	ClinGen ExAC TOPMed gnomAD
rs751488352 CA352884150	1038	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1575435086 CA352884130	1040	F>L		No	ClinGen Ensembl
rs763045729 CA2408696	1041	S>F		No	ClinGen ExAC TOPMed gnomAD
CA2408693 rs144684048	1042	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA74583088 rs144684048	1042	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs367578151 CA2408692	1043	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1367996739 CA352884104	1043	S>N		No	ClinGen TOPMed
rs539600813 CA74583079	1044	E>G		No	ClinGen 1000Genomes
rs768987370 CA2408691	1045	D>G		No	ClinGen ExAC gnomAD
CA352884069 rs747512737	1046	E>*		No	ClinGen ExAC gnomAD
CA2408690 rs747512737	1046	E>K		No	ClinGen ExAC gnomAD
rs770374198 CA2408688	1048	C>R		No	ClinGen ExAC TOPMed gnomAD
CA352884001 rs1307834890	1049	V>G		No	ClinGen gnomAD
CA2408686 rs777576135	1049	V>M		No	ClinGen ExAC gnomAD
rs755900041 CA2408685	1050	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2408683 rs376551616	1051	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376551616 CA2408684	1051	L>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1462352901 CA352883965	1052	L>R		No	ClinGen gnomAD
CA352883952 rs1156805771	1053	R>Q		No	ClinGen TOPMed gnomAD
CA2408682 rs748943477	1053	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2408680 rs751480532	1055	E>K		No	ClinGen ExAC gnomAD
CA352883910 rs1362665606	1056	S>Y		No	ClinGen gnomAD
CA2408678 rs758419592	1057	I>N		No	ClinGen ExAC gnomAD
CA2408679 rs550776230	1057	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs750450903 CA2408677	1058	Q>K		No	ClinGen ExAC gnomAD
CA2408676 rs371936967	1059	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1468706427 CA352883832	1061	D>G		No	ClinGen gnomAD
rs762072279 CA2408675	1063	D>E		No	ClinGen ExAC gnomAD
COSM1424070 rs1026147005 CA74582876 COSM1424071	1064	S>P	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs754028685 CA2408674	1065	A>V		No	ClinGen ExAC TOPMed gnomAD
CA352883743 rs1236002843	1066	L>P		No	ClinGen gnomAD
rs775877549 CA2408671	1069	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1303387397 CA352883676	1070	V>I		No	ClinGen gnomAD
CA352883620 rs1333151492	1073	V>M		No	ClinGen gnomAD
rs1238419938 CA352883575	1075	I>T		No	ClinGen TOPMed
rs200499140 CA2408668	1077	H>P		No	ClinGen 1000Genomes ExAC gnomAD
CA2408665 rs747839672	1078	E>*		No	ClinGen ExAC gnomAD
CA2408666 rs747839672	1078	E>K		No	ClinGen ExAC gnomAD
CA2408662 rs367999599	1079	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2408663 rs367999599	1079	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2408664 COSM1424067 COSM1424066 rs780949671	1079	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2408660 rs374897452	1081	V>I		No	ClinGen ESP ExAC gnomAD
rs889230721 CA74582711	1083	H>Y		No	ClinGen TOPMed gnomAD
CA352883439 rs1559472846	1085	D>G		No	ClinGen Ensembl
rs761194490 CA74582698	1086	R>*		No	ClinGen ExAC TOPMed gnomAD
CA2408657 rs761194490	1086	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2408656 rs754083586	1086	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2408655 rs546611409	1087	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA2408654 rs760954798	1090	K>R		No	ClinGen ExAC gnomAD
rs1182508658 CA352882569	1093	F>C		No	ClinGen gnomAD
rs749665275 CA74580007	1094	G>A		No	ClinGen gnomAD
rs1231256343 CA352882535	1096	V>A		No	ClinGen gnomAD
rs1458622585 CA352882517	1097	Y>C		No	ClinGen TOPMed gnomAD
rs780525228 CA74579993	1099	G>E		No	ClinGen Ensembl
CA2408629 rs763498892	1099	G>R		No	ClinGen ExAC TOPMed gnomAD
CA352882422 rs1380620582	1104	Q>R		No	ClinGen gnomAD
CA2408628 rs760416873	1105	A>D		No	ClinGen ExAC gnomAD
CA2408627 rs150876558	1108	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2408624 rs147999292	1108	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147999292 CA2408625	1108	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147999292 CA2408626	1108	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2408623 rs770925656	1109	I>V		No	ClinGen ExAC gnomAD
rs777962712 CA2408621	1111	C>R		No	ClinGen ExAC gnomAD
CA352882324 rs1424244945	1112	A>T		No	ClinGen TOPMed
rs748429737 CA2408619	1113	I>V		No	ClinGen ExAC gnomAD
CA74579918 rs1004471146	1114	K>R		No	ClinGen gnomAD
rs755404861 CA2408617	1118	R>C		No	ClinGen ExAC gnomAD
CA352881394 COSM1215613 COSM1215614 rs1297754736	1118	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA2408596 rs758796149	1121	E>G		No	ClinGen ExAC
rs1362493143 CA352881335	1122	M>L		No	ClinGen TOPMed gnomAD
rs750962751 CA2408594	1124	Q>R		No	ClinGen ExAC gnomAD
rs779231981 CA2408593	1126	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs752217765 CA2408591	1129	L>P		No	ClinGen ExAC gnomAD
CA2408590 COSM48882 rs200454353	1130	R>*	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs549731289 CA2408589	1130	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352881165 rs1264677042	1132	G>E		No	ClinGen gnomAD
rs1170653236 CA352881156	1134	L>I		No	ClinGen TOPMed
CA2408587 rs751185608	1135	M>T		No	ClinGen ExAC gnomAD
rs766187988 CA2408586	1136	R>C		No	ClinGen ExAC gnomAD
rs766187988 CA352881122	1136	R>G		No	ClinGen ExAC gnomAD
CA2408585 rs140250708	1136	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs140250708 CA352881118	1136	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2408584 rs773212369	1138	L>P		No	ClinGen ExAC TOPMed gnomAD
CA2408583 rs375112444	1139	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761803125 CA2408582	1141	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1228888205 CA352881036	1142	N>D		No	ClinGen TOPMed
rs371974262 CA2408579	1143	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768833729 CA2408580	1143	V>L		No	ClinGen ExAC TOPMed gnomAD
rs369979221 CA2408578	1145	A>P		No	ClinGen ESP ExAC gnomAD
rs1305040787 CA352880984	1147	I>F		No	ClinGen gnomAD
CA352880977 rs1489212330	1147	I>M		No	ClinGen TOPMed
CA2408577 rs375872959	1147	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2408576 rs746154011	1148	G>A		No	ClinGen ExAC gnomAD
CA74579561 rs1027135406	1150	M>I		No	ClinGen TOPMed gnomAD
rs754350249 CA2408573	1150	M>T		No	ClinGen ExAC TOPMed gnomAD
rs757765023 CA2408574	1150	M>V		No	ClinGen ExAC TOPMed gnomAD
CA352880919 rs1409583930	1154	E>G		No	ClinGen TOPMed
CA74579551 rs866072447	1158	H>Y		No	ClinGen Ensembl
rs1183483241 CA352880866	1160	L>P		No	ClinGen gnomAD
rs1559468736 CA352880859	1161	L>P		No	ClinGen Ensembl
CA2408570 rs551800134	1162	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs551800134 CA2408571	1162	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750249386 CA2408567	1164	M>I		No	ClinGen ExAC TOPMed gnomAD
CA2408568 rs762808609	1164	M>L		No	ClinGen ExAC gnomAD
CA2408569 rs762808609	1164	M>V		No	ClinGen ExAC gnomAD
rs1370166178 CA352880779	1167	G>A		No	ClinGen TOPMed
COSM1286290 COSM1286291 CA352880782 rs1320258189	1167	G>S	autonomic_ganglia [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs752072421 CA74579514	1168	D>G		No	ClinGen TOPMed
rs776678200 CA2408564	1171	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA2408563 rs201123555	1172	F>S		No	ClinGen 1000Genomes ExAC gnomAD
CA2408562 rs371791811	1174	R>C		No	ClinGen ESP ExAC gnomAD
CA2408561 rs775857732	1174	R>H		No	ClinGen ExAC TOPMed gnomAD
rs775857732 CA352880681	1174	R>P		No	ClinGen ExAC TOPMed gnomAD
rs772487529 CA2408560	1175	S>*		No	ClinGen ExAC TOPMed gnomAD
rs367865823 CA2408559	1178	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA74579466 rs878910700	1178	R>W		No	ClinGen TOPMed gnomAD
rs1575425625 CA352880540	1179	N>Y		No	ClinGen Ensembl
rs759714858 CA2408540	1180	P>L		No	ClinGen ExAC gnomAD
CA352880503 rs1159143364	1181	T>I		No	ClinGen gnomAD
rs1375702844 CA352880478	1182	V>E		No	ClinGen gnomAD
rs771218531 CA2408538	1182	V>M		No	ClinGen ExAC TOPMed gnomAD
rs749601601 CA2408537	1185	L>V		No	ClinGen ExAC gnomAD
CA352880415 rs1266846641	1186	I>L		No	ClinGen TOPMed
CA2408535 rs770355605	1192	V>L		No	ClinGen ExAC gnomAD
rs149920380 CA2408533	1194	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs560835056 COSM1424060 CA2408532 COSM1424061	1194	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs7433231 CA74579224	1195	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1234497922 CA352880198	1195	G>D		No	ClinGen gnomAD
CA74579248 rs7433231	1195	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA74579262 VAR_061749 rs7433231	1195	G>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs996975723 CA74579215	1196	M>T		No	ClinGen TOPMed gnomAD
rs757007128 CA2408529	1197	E>D		No	ClinGen ExAC TOPMed
CA74579189 rs1027276175	1198	Y>N		No	ClinGen Ensembl
CA352880073 rs1473654149	1202	Q>*		No	ClinGen TOPMed
CA2408525 rs756166731	1203	K>Q		No	ClinGen ExAC gnomAD
CA352880020 rs1161204341	1204	F>L		No	ClinGen TOPMed
rs1421413781 CA352879980	1205	V>A		No	ClinGen gnomAD
rs1421413781 CA352879986	1205	V>G		No	ClinGen gnomAD
rs1400066114 CA352879965	1206	H>Y		No	ClinGen gnomAD
CA352879935 rs1171764730	1207	R>K		No	ClinGen gnomAD
rs372151789 CA2408524	1208	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA352879860 rs1234878460	1210	A>V		No	ClinGen gnomAD
rs1379154922 CA352879856	1211	A>T		No	ClinGen TOPMed gnomAD
rs368036422 CA2408523	1211	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1008363508 CA74579137	1212	R>Q		No	ClinGen TOPMed gnomAD
CA2408521 rs375490243	1212	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1384834458 CA352879804	1213	N>S		No	ClinGen gnomAD
CA2408520 rs766559516	1214	C>S		No	ClinGen ExAC gnomAD
CA352879775 rs1375529472	1215	M>V		No	ClinGen gnomAD
CA352879539 rs140747428	1217	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352879552 rs773959075	1217	D>N		No	ClinGen ExAC TOPMed gnomAD
rs773959075 CA2408494	1217	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs748976824 CA2408492	1218	E>K		No	ClinGen ExAC gnomAD
CA352879514 rs1403837377	1219	S>A		No	ClinGen gnomAD
CA352879504 rs1413143317	1220	F>I		No	ClinGen gnomAD
rs1413143317 CA352879500	1220	F>V		No	ClinGen gnomAD
rs1163953341 CA352879477	1221	T>I		No	ClinGen gnomAD
rs1236947451 CA352879429	1226	D>E		No	ClinGen gnomAD
rs777514800 CA2408491 COSM731237 COSM731238	1231	R>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs199869962 CA2408489	1231	R>H		No	ClinGen 1000Genomes TOPMed gnomAD
rs1449563443 CA352879324	1232	D>N		No	ClinGen TOPMed gnomAD
CA352879321 rs1449563443	1232	D>Y		No	ClinGen TOPMed gnomAD
CA2408485 rs755004403	1236	R>G		No	ClinGen ExAC TOPMed gnomAD
rs139861776 CA2408484	1236	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs780224945 CA2408483	1238	Y>C		No	ClinGen ExAC gnomAD
rs200817733 CA2408482	1239	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1559467177 CA352879171	1240	S>G		No	ClinGen Ensembl
rs765385235 CA352879167	1240	S>R		No	ClinGen ExAC TOPMed gnomAD
rs750667546 CA2408481	1240	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1324272617 CA352879155	1241	V>D		No	ClinGen TOPMed gnomAD
CA2408478 rs150754921	1242	Q>E		No	ClinGen ESP ExAC gnomAD
CA352879100 rs754286516	1243	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA2408477 rs754286516	1243	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA2408475 rs775818153	1243	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA2408476 rs764342899	1243	Q>R		No	ClinGen ExAC
CA2408473 rs201718182	1244	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2408472 rs759230802	1245	R>C		No	ClinGen ExAC TOPMed gnomAD
rs772999107 CA2408471	1245	R>H		No	ClinGen ExAC gnomAD
rs1235783876 CA352879040	1246	H>Y		No	ClinGen TOPMed gnomAD
CA74578263 rs374259168	1247	A>T		No	ClinGen ESP TOPMed gnomAD
CA2408470 rs372063160	1248	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1215611 COSM1215612 CA74578260 rs1035118897	1248	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA352879003 rs1035118897	1248	R>L		No	ClinGen TOPMed gnomAD
CA2408468 rs144565670	1250	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1215782855 CA352878967	1251	V>L		No	ClinGen gnomAD
rs1215782855 CA352878971	1251	V>M		No	ClinGen gnomAD
rs768307885 CA2408467	1254	M>I		No	ClinGen ExAC gnomAD
CA352878905 rs1429578194	1254	M>V		No	ClinGen TOPMed
rs539807742 CA2408466	1255	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs569126082 CA2408463	1257	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1575423338 CA352878870	1257	E>G		No	ClinGen Ensembl
rs778949184 CA2408462	1258	S>G		No	ClinGen ExAC gnomAD
CA352878861 rs1438913030	1258	S>I		No	ClinGen gnomAD
rs757524599 CA2408461 COSM3775167 COSM3775166	1261	T>I	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2408459 rs368569784	1262	Y>C		No	ClinGen ESP ExAC gnomAD
CA352878776 rs1174379391	1263	R>*		No	ClinGen gnomAD
rs978820558 CA74578180	1265	T>A		No	ClinGen TOPMed gnomAD
CA2408458 rs764547217	1265	T>I		No	ClinGen ExAC gnomAD
rs1316755516 CA352878691	1267	K>R		No	ClinGen TOPMed
CA352878661 rs1191367090	1269	D>N		No	ClinGen gnomAD
CA2408441 rs777797719	1272	S>L		No	ClinGen ExAC TOPMed gnomAD
CA2408439 rs753175738	1279	E>D		No	ClinGen ExAC gnomAD
rs1378973286 CA352878406	1279	E>V		No	ClinGen gnomAD
rs1189101610 CA352878398	1281	L>V		No	ClinGen gnomAD
rs369707898 CA2408438	1282	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs752084153 CA2408437	1283	R>G		No	ClinGen ExAC TOPMed gnomAD
CA352878389 rs764873666	1283	R>P		No	ClinGen ExAC TOPMed gnomAD
CA2408435 rs764873666	1283	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2408436 rs752084153	1283	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1575422367 CA352878380	1285	A>P		No	ClinGen Ensembl
CA352878360 rs1575422347	1288	Y>S		No	ClinGen Ensembl
CA2408434 rs761180266	1289	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM1046330 rs1414519759 COSM1046331 CA352878353	1289	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1414519759 CA352878351	1289	R>L		No	ClinGen TOPMed gnomAD
rs1575422301 CA352878346	1290	H>R		No	ClinGen Ensembl
CA352878338 rs1294995271	1291	I>S		No	ClinGen TOPMed
CA74577943 rs867769890	1291	I>V		No	ClinGen Ensembl
rs763587750 CA2408432	1293	P>L		No	ClinGen ExAC gnomAD
CA2408433 rs763587750	1293	P>R		No	ClinGen ExAC gnomAD
rs760372109 CA2408431	1296	L>F		No	ClinGen ExAC TOPMed gnomAD
CA352878299 rs775312220	1297	T>I		No	ClinGen ExAC gnomAD
CA2408430 rs775312220	1297	T>S		No	ClinGen ExAC gnomAD
rs895287742 CA74577915	1299	F>L		No	ClinGen Ensembl
rs200413203 CA2408429	1299	F>S		No	ClinGen ExAC TOPMed gnomAD
CA352878279 rs1263755936 COSM1670212 COSM1670213	1301	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA2408428 rs759498856	1301	A>V		No	ClinGen ExAC TOPMed gnomAD
CA2408426 rs148051512	1303	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA2408427 rs774223568	1303	G>R		No	ClinGen ExAC gnomAD
VAR_041777 rs528985327 CA352878262	1304	R>G		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA352878261 rs998378597	1304	R>L		No	ClinGen TOPMed gnomAD
rs998378597 CA74577899	1304	R>Q		No	ClinGen TOPMed gnomAD
CA2408425 rs528985327	1304	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777901325 CA2408424	1305	R>C		No	ClinGen ExAC TOPMed gnomAD
rs373976686 CA2408423	1305	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1475155605 CA352878241	1308	Q>P		No	ClinGen TOPMed
CA2408421 rs561814812	1310	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1183236412 CA352878222	1311	Y>H		No	ClinGen TOPMed
CA352877244 rs1343263553	1318	Q>K		No	ClinGen gnomAD
CA352877232 rs1427076967	1319	V>M		No	ClinGen TOPMed
CA2408397 rs750909629	1320	M>R		No	ClinGen ExAC gnomAD
CA2408398 rs758887341	1320	M>V		No	ClinGen ExAC gnomAD
CA352877200 rs1165448128	1321	Q>E		No	ClinGen TOPMed gnomAD
CA74573274 rs867518859	1323	C>Y		No	ClinGen Ensembl
CA352877163 rs1345824757	1324	W>R		No	ClinGen gnomAD
rs767387309 CA74573268	1326	A>V		No	ClinGen Ensembl
rs777178945 CA2408396	1329	A>S		No	ClinGen ExAC gnomAD
CA352877071 rs1397526390	1331	R>*		No	ClinGen TOPMed gnomAD
CA2408395 rs755570750	1331	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs200341395 CA2408393	1333	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754615957 CA2408392	1334	F>C		No	ClinGen ExAC gnomAD
rs1062633 VAR_024577 CA2408390	1335	R>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA74573220 rs989865081	1338	V>A		No	ClinGen Ensembl
CA2408386 rs761926839	1339	G>E		No	ClinGen ExAC gnomAD
rs865777711 CA74573174	1340	E>K		No	ClinGen Ensembl
CA2408384 rs201481391	1341	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352876928 rs1441233702	1342	E>*		No	ClinGen gnomAD
rs1204777188 CA352876889	1344	I>V		No	ClinGen gnomAD
rs141643217 CA2408381	1345	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs746382384 CA2408380	1346	S>F		No	ClinGen ExAC gnomAD
rs779416241 CA2408379	1348	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1316699142 CA352876859	1348	L>P		No	ClinGen gnomAD
rs112748721 CA74573126	1349	L>P		No	ClinGen TOPMed gnomAD
CA74573125 rs112748721	1349	L>R		No	ClinGen TOPMed gnomAD
rs548380699 CA2408377	1350	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs780662966 CA2408376	1351	D>E		No	ClinGen ExAC gnomAD
rs761988152 CA2408375	1354	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1426545709 CA352876809	1356	L>Q		No	ClinGen TOPMed
rs1425433681 CA352876810	1356	L>V		No	ClinGen TOPMed
rs145944620 CA2408373	1358	A>P		No	ClinGen ESP ExAC gnomAD
rs145944620 CA352876800	1358	A>T		No	ClinGen ESP ExAC gnomAD
CA74573070 rs953524683	1358	A>V		No	ClinGen TOPMed gnomAD
rs56330223 CA2408371 VAR_041778	1360	Y>C		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA74573009 rs868837293	1361	M>I		No	ClinGen Ensembl
CA74573021 rs200332639	1361	M>T		No	ClinGen Ensembl
CA2408370 rs750343481	1361	M>V		No	ClinGen ExAC TOPMed gnomAD
CA352876770 rs1291272918	1362	N>K		No	ClinGen TOPMed
rs1368344560 CA352876745	1366	S>I		No	ClinGen gnomAD
rs761840581 CA352876733	1368	S>*		No	ClinGen ExAC TOPMed gnomAD
rs761840581 CA2408368	1368	S>L		No	ClinGen ExAC TOPMed gnomAD
CA2408366 rs56066753	1369	H>L		No	ClinGen ExAC TOPMed gnomAD
CA74572986 rs56066753	1369	H>R		No	ClinGen ExAC TOPMed gnomAD
CA74572985 rs878967877	1370	E>D		No	ClinGen Ensembl
CA74572984 rs768778330	1371	M>I		No	ClinGen TOPMed
rs1436907865 CA352876713	1371	M>R		No	ClinGen gnomAD
rs760836320 CA2408365	1372	N>H		No	ClinGen ExAC gnomAD
COSM190709 rs772336656 CA2408363 COSM190708	1374	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2408362 rs202007332	1374	R>H		No	ClinGen ExAC TOPMed gnomAD
rs772336656 CA2408364	1374	R>S		No	ClinGen ExAC gnomAD
rs1283455820 CA352876690	1375	P>L		No	ClinGen TOPMed gnomAD
rs1246660921 CA352876682	1376	E>D		No	ClinGen TOPMed gnomAD
CA74572958 rs368400291	1377	Q>*		No	ClinGen ESP TOPMed gnomAD
rs12634102 CA352876675	1377	Q>H		No	ClinGen TOPMed
CA2408361 rs774570912	1378	P>L		No	ClinGen ExAC gnomAD
rs780724186 CA2408358	1379	Q>*		No	ClinGen ExAC gnomAD
CA352876664 rs1575417217	1379	Q>P		No	ClinGen Ensembl
rs754447593 CA2408357	1381	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1559463722 CA352876641	1383	M>V		No	ClinGen Ensembl
CA74572914 rs1031691725	1384	P>S		No	ClinGen TOPMed
rs137882771 CA2408356	1385	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA74572902 rs775685029	1386	N>D		No	ClinGen gnomAD
CA352876618 rs1384015654	1386	N>K		No	ClinGen TOPMed
rs372825999 CA2408354	1388	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs750299816 CA2408353	1388	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2408351 COSM1578954 COSM1578955 rs202219889	1389	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA2408352 rs368818557	1389	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs541003810 COSM1424058 COSM1424059 CA2408349	1391	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs533872004 CA2408350	1391	R>W		No	ClinGen ExAC TOPMed gnomAD
rs141338964 CA74572863	1394	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs141338964 CA2408348	1394	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1283605972 CA352876559	1397	P>L		No	ClinGen gnomAD
CA2408345 rs759659890	1398	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs148258453 CA2408346	1398	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2408343 rs771250951	1399	P>S		No	ClinGen ExAC gnomAD
CA2408341 rs773663136	1400	T>A		No	ClinGen ExAC TOPMed gnomAD
COSM137855 COSM137854 CA352876547 rs1427110644	1400	T>S	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs746465044 CA2408339	1401	T>C		No	ClinGen ExAC gnomAD

1 associated diseases with Q04912

[MIM: 617075]: Nasopharyngeal carcinoma, 3 (NPCA3)

A form of nasopharyngeal carcinoma, a malignant neoplasm that originates in the nasopharyngeal epithelium and includes 4 subtypes

Without disease ID

A form of nasopharyngeal carcinoma, a malignant neoplasm that originates in the nasopharyngeal epithelium and includes 4 subtypes

6 regional properties for Q04912

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	60 - 311	IPR000719
domain	Kinase associated domain 1 (KA1)	744 - 793	IPR001772
active_site	Serine/threonine-protein kinase, active site	178 - 190	IPR008271
domain	Ubiquitin-associated domain	329 - 370	IPR015940
binding_site	Protein kinase, ATP binding site	66 - 89	IPR017441
domain	Serine/threonine-protein kinase MARK 1-4, catalytic domain	59 - 311	IPR049508

Functions

		Description
EC Number	2.7.10.1	Protein-tyrosine kinases
Subcellular Localization	Membrane; Single-pass type I membrane protein
PANTHER Family	PTHR24416	TYROSINE-PROTEIN KINASE RECEPTOR
PANTHER Subfamily	PTHR24416:SF113	MACROPHAGE-STIMULATING PROTEIN RECEPTOR
PANTHER Protein Class	transmembrane signal receptor
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
basal plasma membrane	The region of the plasma membrane located at the basal end of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
cell surface	The external part of the cell wall and/or plasma membrane.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
stress fiber	A contractile actin filament bundle that consists of short actin filaments with alternating polarity, cross-linked by alpha-actinin and possibly other actin bundling proteins, and with myosin present in a periodic distribution along the fiber.
vacuole	A closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. Cells contain one or several vacuoles, that may have different functions from each other. Vacuoles have a diverse array of functions. They can act as a storage organelle for nutrients or waste products, as a degradative compartment, as a cost-effective way of increasing cell size, and as a homeostatic regulator controlling both turgor pressure and pH of the cytosol.

5 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
macrophage colony-stimulating factor receptor activity	Combining with macrophage colony-stimulating factor (M-CSF) receptor ligand 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.
protein serine/threonine/tyrosine kinase activity	Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
transmembrane receptor protein tyrosine kinase activity	Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate.

13 GO annotations of biological process

Name	Definition
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.
defense response	Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
phagocytosis	A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of kinase activity	Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.
positive regulation of MAP kinase activity	Any process that activates or increases the frequency, rate or extent of MAP kinase activity.
positive regulation of protein kinase B signaling	Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B.
response to virus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
single fertilization	The union of male and female gametes to form a zygote.
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.

79 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
O43157	PLXNB1	Plexin-B1	Homo sapiens (Human)	EV SS
Q9HCM2	PLXNA4	Plexin-A4	Homo sapiens (Human)	SS
O75051	PLXNA2	Plexin-A2	Homo sapiens (Human)	SS
P51805	PLXNA3	Plexin-A3	Homo sapiens (Human)	SS
Q9UIW2	PLXNA1	Plexin-A1	Homo sapiens (Human)	EV SS
O15031	PLXNB2	Plexin-B2	Homo sapiens (Human)	SS
Q9ULL4	PLXNB3	Plexin-B3	Homo sapiens (Human)	SS
P07949	RET	Proto-oncogene tyrosine-protein kinase receptor Ret	Homo sapiens (Human)	EV
O15146	MUSK	Muscle, skeletal receptor tyrosine-protein kinase	Homo sapiens (Human)	EV
Q01974	ROR2	Tyrosine-protein kinase transmembrane receptor ROR2	Homo sapiens (Human)	EV
Q01973	ROR1	Inactive tyrosine-protein kinase transmembrane receptor ROR1	Homo sapiens (Human)	PR
Q16832	DDR2	Discoidin domain-containing receptor 2	Homo sapiens (Human)	SS
Q08345	DDR1	Epithelial discoidin domain-containing receptor 1	Homo sapiens (Human)	EV
Q16620	NTRK2	BDNF/NT-3 growth factors receptor	Homo sapiens (Human)	EV
P04629	NTRK1	High affinity nerve growth factor receptor	Homo sapiens (Human)	EV
Q16288	NTRK3	NT-3 growth factor receptor	Homo sapiens (Human)	SS
P35916	FLT4	Vascular endothelial growth factor receptor 3	Homo sapiens (Human)	SS
P17948	FLT1	Vascular endothelial growth factor receptor 1	Homo sapiens (Human)	SS
P35968	KDR	Vascular endothelial growth factor receptor 2	Homo sapiens (Human)	EV
P29317	EPHA2	Ephrin type-A receptor 2	Homo sapiens (Human)	SS
P21709	EPHA1	Ephrin type-A receptor 1	Homo sapiens (Human)	SS
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
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
Q9WTL4	Insrr	Insulin receptor-related protein	Mus musculus (Mouse)	SS
P97793	Alk	ALK tyrosine kinase receptor	Mus musculus (Mouse)	SS
P16056	Met	Hepatocyte growth factor receptor	Mus musculus (Mouse)	PR
Q9QY40	Plxnb3	Plexin-B3	Mus musculus (Mouse)	SS
P70208	Plxna3	Plexin-A3	Mus musculus (Mouse)	EV SS
Q3UH93	Plxnd1	Plexin-D1	Mus musculus (Mouse)	SS
P70207	Plxna2	Plexin-A2	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
P70206	Plxna1	Plexin-A1	Mus musculus (Mouse)	EV SS
P55144	Tyro3	Tyrosine-protein kinase receptor TYRO3	Mus musculus (Mouse)	SS
Q00993	Axl	Tyrosine-protein kinase receptor UFO	Mus musculus (Mouse)	PR
Q60805	Mertk	Tyrosine-protein kinase Mer	Mus musculus (Mouse)	SS
Q62190	Mst1r	Macrophage-stimulating protein receptor	Mus musculus (Mouse)	SS
Q01887	Ryk	Tyrosine-protein kinase RYK	Mus musculus (Mouse)	PR
Q2QLE0	MET	Hepatocyte growth factor receptor	Sus scrofa (Pig)	PR
P97523	Met	Hepatocyte growth factor receptor	Rattus norvegicus (Rat)	PR
Q64716	Insrr	Insulin receptor-related protein	Rattus norvegicus (Rat)	SS
D3ZPX4	Plxna3	Plexin-A3	Rattus norvegicus (Rat)	SS
D3ZLH5	Plxnb3	Plexin-B3	Rattus norvegicus (Rat)	SS
P57097	Mertk	Tyrosine-protein kinase Mer	Rattus norvegicus (Rat)	SS
Q8I7I5	rol-3	Protein roller-3	Caenorhabditis elegans	PR
H2KZU7	svh-2	Tyrosine-protein kinase receptor svh-2	Caenorhabditis elegans	SS
F1QVU0	ltk	Tyrosine-protein kinase receptor	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
F8W3R9	alk	ALK tyrosine kinase receptor	Danio rerio (Zebrafish) (Brachydanio rerio)	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
MELLPPLPQS	FLLLLLLPAK	PAAGEDWQCP	RTPYAASRDF	DVKYVVPSFS	AGGLVQAMVT
70	80	90	100	110	120
YEGDRNESAV	FVAIRNRLHV	LGPDLKSVQS	LATGPAGDPG	CQTCAACGPG	PHGPPGDTDT
130	140	150	160	170	180
KVLVLDPALP	ALVSCGSSLQ	GRCFLHDLEP	QGTAVHLAAP	ACLFSAHHNR	PDDCPDCVAS
190	200	210	220	230	240
PLGTRVTVVE	QGQASYFYVA	SSLDAAVAAS	FSPRSVSIRR	LKADASGFAP	GFVALSVLPK
250	260	270	280	290	300
HLVSYSIEYV	HSFHTGAFVY	FLTVQPASVT	DDPSALHTRL	ARLSATEPEL	GDYRELVLDC
310	320	330	340	350	360
RFAPKRRRRG	APEGGQPYPV	LRVAHSAPVG	AQLATELSIA	EGQEVLFGVF	VTGKDGGPGV
370	380	390	400	410	420
GPNSVVCAFP	IDLLDTLIDE	GVERCCESPV	HPGLRRGLDF	FQSPSFCPNP	PGLEALSPNT
430	440	450	460	470	480
SCRHFPLLVS	SSFSRVDLFN	GLLGPVQVTA	LYVTRLDNVT	VAHMGTMDGR	ILQVELVRSL
490	500	510	520	530	540
NYLLYVSNFS	LGDSGQPVQR	DVSRLGDHLL	FASGDQVFQV	PIQGPGCRHF	LTCGRCLRAW
550	560	570	580	590	600
HFMGCGWCGN	MCGQQKECPG	SWQQDHCPPK	LTEFHPHSGP	LRGSTRLTLC	GSNFYLHPSG
610	620	630	640	650	660
LVPEGTHQVT	VGQSPCRPLP	KDSSKLRPVP	RKDFVEEFEC	ELEPLGTQAV	GPTNVSLTVT
670	680	690	700	710	720
NMPPGKHFRV	DGTSVLRGFS	FMEPVLIAVQ	PLFGPRAGGT	CLTLEGQSLS	VGTSRAVLVN
730	740	750	760	770	780
GTECLLARVS	EGQLLCATPP	GATVASVPLS	LQVGGAQVPG	SWTFQYREDP	VVLSISPNCG
790	800	810	820	830	840
YINSHITICG	QHLTSAWHLV	LSFHDGLRAV	ESRCERQLPE	QQLCRLPEYV	VRDPQGWVAG
850	860	870	880	890	900
NLSARGDGAA	GFTLPGFRFL	PPPHPPSANL	VPLKPEEHAI	KFEYIGLGAV	ADCVGINVTV
910	920	930	940	950	960
GGESCQHEFR	GDMVVCPLPP	SLQLGQDGAP	LQVCVDGECH	ILGRVVRPGP	DGVPQSTLLG
970	980	990	1000	1010	1020
ILLPLLLLVA	ALATALVFSY	WWRRKQLVLP	PNLNDLASLD	QTAGATPLPI	LYSGSDYRSG
1030	1040	1050	1060	1070	1080
LALPAIDGLD	STTCVHGASF	SDSEDESCVP	LLRKESIQLR	DLDSALLAEV	KDVLIPHERV
1090	1100	1110	1120	1130	1140
VTHSDRVIGK	GHFGVVYHGE	YIDQAQNRIQ	CAIKSLSRIT	EMQQVEAFLR	EGLLMRGLNH
1150	1160	1170	1180	1190	1200
PNVLALIGIM	LPPEGLPHVL	LPYMCHGDLL	QFIRSPQRNP	TVKDLISFGL	QVARGMEYLA
1210	1220	1230	1240	1250	1260
EQKFVHRDLA	ARNCMLDESF	TVKVADFGLA	RDILDREYYS	VQQHRHARLP	VKWMALESLQ
1270	1280	1290	1300	1310	1320
TYRFTTKSDV	WSFGVLLWEL	LTRGAPPYRH	IDPFDLTHFL	AQGRRLPQPE	YCPDSLYQVM
1330	1340	1350	1360	1370	1380
QQCWEADPAV	RPTFRVLVGE	VEQIVSALLG	DHYVQLPATY	MNLGPSTSHE	MNVRPEQPQF
1390
SPMPGNVRRP	RPLSEPPRPT