AiPD: Autoinhibited Protein Database

P04626

Gene name	ERBB2 (HER2, MLN19, NEU, NGL)
Protein name	Receptor tyrosine-protein kinase erbB-2
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2064
EC number	2.7.10.1: Protein-tyrosine kinases
Protein Class

Descriptions

ERBB2 is a receptor tyrosine protein kinase playing critical roles in regulating cell proliferation, differentiation, and migration. The potential autoinhibitory regions were predicted by sequence similarity with human EGFR (P00533).

Autoinhibitory domains (AIDs)

487-624 (Domain IV) SS

Target domain	171-313 (Domain II)
Relief mechanism	Partner binding, PTM
Assay

AID

487-624 (Domain IV)

Target domain

171-313 (Domain II)

Relief mechanism

Partner binding (EGF binding to domain I), PTM (Deglycosylation of Asn residue within subdomain IV or glycosylation of Asn residues within domain II)

Assay

Accessory elements

862-887 (Activation loop from InterPro)

Target domain	720-987 (Protein kinase domain)
Relief mechanism
Assay

References

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Autoinhibited structure

Activated structure

47 structures for P04626

Entry ID	Method	Resolution	Chain	Position	Source
1MFG	X-ray	125 A	B	1247-1255	PDB
1MFL	X-ray	188 A	B	1247-1255	PDB
1MW4	NMR	-	B	1135-1144	PDB
1N8Z	X-ray	252 A	C	23-629	PDB
1QR1	X-ray	240 A	C/F	654-662	PDB
1S78	X-ray	325 A	A/B	23-646	PDB
2A91	X-ray	250 A	A	22-530	PDB
2JWA	NMR	-	A/B	641-684	PDB
2KS1	NMR	-	A	641-684	PDB
2L4K	NMR	-	B	1135-1144	PDB
2N2A	NMR	-	A/B	644-700	PDB
3BE1	X-ray	290 A	A	23-646	PDB
3H3B	X-ray	245 A	A/B	23-214	PDB
3MZW	X-ray	290 A	A	23-646	PDB
3N85	X-ray	320 A	A	23-646	PDB
3PP0	X-ray	225 A	A/B	703-1029	PDB
3RCD	X-ray	321 A	A/B/C/D	713-1028	PDB
3WLW	X-ray	309 A	A/B	23-586	PDB
3WSQ	X-ray	350 A	A	23-586	PDB
4GFU	X-ray	200 A	F	1246-1252	PDB
4HRL	X-ray	255 A	C	24-219	PDB
4HRM	X-ray	320 A	A/C	24-219	PDB
4HRN	X-ray	265 A	C/D	529-625	PDB
4NND	X-ray	250 A	C/E/F/H	1109-1114	PDB
5K33	X-ray	330 A	C	23-629	PDB
5KWG	X-ray	430 A	C	23-653	PDB
5MY6	X-ray	225 A	A	24-645	PDB
5O4G	X-ray	300 A	C	23-628	PDB
5OB4	NMR	-	A/B	641-684	PDB
5TQS	X-ray	188 A	E/F/G/H	1218-1228	PDB
6ATT	X-ray	377 A	A	23-652	PDB
6BGT	X-ray	270 A	C	1-652	PDB
6J71	X-ray	292 A	A	22-639	PDB
6LBX	X-ray	203 A	B	531-626	PDB
6OGE	EM	436 A	A	23-644	PDB
7JXH	X-ray	327 A	A/B/C/D/E/F/G/H	703-1024	PDB
7MN5	EM	293 A	B	1-1029	PDB
7MN6	EM	309 A	B	1-1029	PDB
7MN8	EM	345 A	B	1-1029	PDB
7PCD	X-ray	177 A	A	703-1029	PDB
7QVK	X-ray	310 A	AAA	23-646	PDB
8FFJ	EM	750 A	X	23-644	PDB
8HGO	EM	331 A	B	1-693	PDB
8HGP	EM	453 A	B	1-693	PDB
8PWH	EM	317 A	E	23-646	PDB
8Q6J	EM	330 A	E	23-646	PDB
AF-P04626-F1	Predicted				AlphaFoldDB

864 variants for P04626

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1555614298 CA399272451 RCV000623480	103	R>*	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001770092 RCV000120762 CA158734 rs376183465	245	T>M	Glioma susceptibility 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
COSM436496 rs1057519787 RCV000428908 CA16602660	309	G>A	breast Breast neoplasm [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000439549 COSM94224 rs1057519787 CA16602596	309	G>E	Lung adenocarcinoma breast [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000426026 RCV000432337 RCV000434976 RCV000417717 RCV000422702 RCV000433436 COSM48358 rs1057519816 CA16602644 RCV000441701 RCV000426903 RCV000443823 RCV000442810	310	S>F	Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix urinary_tract stomach Gastric adenocarcinoma Lung adenocarcinoma lung Neoplasm Squamous cell carcinoma of the head and neck ovary large_intestine Neoplasm of the large intestine breast Breast neoplasm [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000427912 RCV001311879 RCV000436218 RCV000418953 RCV000438553 RCV000417861 CA16602643 RCV000440989 RCV000428547 RCV000434482 RCV000425505 RCV000423792 COSM94225 rs1057519816	310	S>Y	lung Neoplasm Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix large_intestine urinary_tract Neoplasm of the large intestine Gastric adenocarcinoma Lung adenocarcinoma Breast neoplasm [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs2059127438 RCV001293826	537	G>missing	Colorectal cancer [ClinVar]	Yes	ClinVar dbSNP
CA123566 VAR_004077 RCV000120743 RCV000014888 rs1801201	654	I>V	allele B3 ERBB2 POLYMORPHISM [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000120744 RCV000014887 VAR_004078 CA123559 rs1136201	655	I>V	ERBB2 POLYMORPHISM allele B2 and allele B3 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM436498 CA16602787 RCV000438950 RCV000417832 RCV000424585 RCV000428060 RCV000437885 rs1057519862 RCV000420241	678	R>Q	Malignant neoplasm of body of uterus large_intestine endometrium urinary_tract stomach prostate Neoplasm of the large intestine Gastric adenocarcinoma breast Prostate adenocarcinoma Breast neoplasm [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM1205571 RCV000422582 RCV000431643 RCV000421368 RCV000438379 CA16602842 RCV000432868 rs1057519890 RCV000443340 RCV000439036	755	L>M	Malignant neoplasm of body of uterus large_intestine Gastric adenocarcinoma Neoplasm of the large intestine breast Papillary renal cell carcinoma, sporadic Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000433907 RCV000425374 rs121913469 RCV000443258 RCV000427611 VAR_055432 RCV000420852 CA123587 RCV000436720 RCV000426475 RCV000014891	755	L>P	Malignant neoplasm of body of uterus Neoplasm of the large intestine Gastric adenocarcinoma Lung adenocarcinoma LNCR; somatic mutation; unknown pathological significance Papillary renal cell carcinoma, sporadic Malignant melanoma of skin Breast neoplasm [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA16602502 RCV000418445 RCV000427447 RCV000428572 RCV000435324 RCV000435086 rs121913470 RCV000417433 COSM14060 RCV000429126	755	L>S	Malignant neoplasm of body of uterus lung large_intestine endometrium Gastric adenocarcinoma Neoplasm of the large intestine stomach small_intestine breast Papillary renal cell carcinoma, sporadic Breast neoplasm Malignant melanoma of skin [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000417866 rs121913470 COSM436499 RCV000425422 RCV000442700 CA16602786 RCV000432853 RCV000435694 RCV000426066 RCV000445218	755	L>W	Malignant neoplasm of body of uterus Neoplasm of the large intestine Gastric adenocarcinoma breast Papillary renal cell carcinoma, sporadic Breast neoplasm Malignant melanoma of skin [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs1131692241 RCV000432652	755	L>missing	Breast neoplasm [ClinVar]	Yes	ClinVar dbSNP
RCV000426351 COSM13170 CA16602465 RCV000444643 RCV000445220 RCV000423455 rs121913468 RCV000433752	769	D>H	lung Carcinoma of esophagus Neoplasm of uterine cervix stomach Gastric adenocarcinoma breast Breast neoplasm [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000420244 CA16602841 RCV000441427 COSM1302747 RCV000419212 RCV000431162 rs121913468 RCV000430490	769	D>N	Carcinoma of esophagus Neoplasm of uterine cervix urinary_tract Gastric adenocarcinoma Breast neoplasm [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000443774 RCV000438329 RCV000418272 RCV000437580 COSM1251412 RCV000427352 CA16602466 rs121913468	769	D>Y	Carcinoma of esophagus oesophagus Neoplasm of uterine cervix Gastric adenocarcinoma breast Breast neoplasm [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs397516975 RCV000038123 RCV000014889	772	Y>missing	Non-small cell lung carcinoma Lung adenocarcinoma [ClinVar]	Yes	ClinVar dbSNP
RCV000038124 rs397516977	772	Y>missing	Non-small cell lung carcinoma [ClinVar]	Yes	ClinVar dbSNP
rs397516978 RCV000038125	774	M>missing	Non-small cell lung carcinoma [ClinVar]	Yes	ClinVar dbSNP
rs397516980 RCV000038129	776	G>LC	Non-small cell lung carcinoma [ClinVar]	Yes	ClinVar dbSNP
COSM685 rs28933369 RCV000421481 VAR_042098 RCV000014893 RCV000439112 CA210550	776	G>S	Neoplasm GASC; somatic mutation; unknown pathological significance stomach Gastric adenocarcinoma Gastric cancer [ClinVar, UniProt, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
rs397516976 RCV000156384	776	G>SVMA	Non-small cell lung carcinoma [ClinVar]	Yes	ClinVar dbSNP
rs1555618025 RCV000150653	776	G>SVMA	Non-small cell lung carcinoma [ClinVar]	Yes	ClinVar dbSNP
RCV000431743 rs397516979 RCV000038127	776	G>VC	Non-small cell lung carcinoma Breast neoplasm [ClinVar]	Yes	ClinVar dbSNP
RCV000038128 rs397516979	776	G>VC	Non-small cell lung carcinoma [ClinVar]	Yes	ClinVar dbSNP
RCV000435242 COSM14062 COSM436500 RCV000428506 rs121913471 RCV000038130 CA135387 RCV000417571	777	V>L	lung large_intestine stomach Neoplasm of the large intestine Gastric adenocarcinoma breast Breast neoplasm [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs587776805 RCV000014890	777	V>missing	Lung adenocarcinoma [ClinVar]	Yes	ClinVar dbSNP
COSM14062 COSM436500 rs121913471 RCV000439788 CA16602503	777	V>L	lung large_intestine stomach breast Breast neoplasm [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000428744 rs121913471 CA16602843 RCV000439665 RCV000422009 COSM14064	777	V>M	large_intestine Neoplasm of the large intestine Gastric adenocarcinoma Breast neoplasm [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs397516981 RCV000038131	778	G>missing	Non-small cell lung carcinoma [ClinVar]	Yes	ClinVar dbSNP
RCV000038132 rs397516982	778	G>missing	Non-small cell lung carcinoma [ClinVar]	Yes	ClinVar dbSNP
rs1057519737 RCV000429589	779	S>LPS	Breast neoplasm [ClinVar]	Yes	ClinVar dbSNP
CA16602776 rs1057519857 RCV000442075	785	L>P	Breast neoplasm [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000439690 RCV000422021 COSM14065 RCV000428793 RCV000440770 RCV000444555 rs1057519738 RCV000433354 CA16602468 RCV001861475 RCV000423067	842	V>I	Malignant neoplasm of body of uterus Uterine carcinosarcoma large_intestine endometrium Pancreatic adenocarcinoma stomach Gastric adenocarcinoma Neoplasm of the large intestine small_intestine breast Gallbladder carcinoma Breast neoplasm [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
RCV000427276 VAR_042099 CA123601 rs28933370 RCV000014894 COSM686	857	N>S	ovary Ovarian adenocarcinoma Neoplasm of ovary OC; somatic mutation; unknown pathological significance [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP
CA399304956 COSM249793 RCV000491283 rs1131692237	869	L>R	lung Lung adenocarcinoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs758222990 COSM14066 CA8534359 RCV000424169	896	R>C	large_intestine central_nervous_system breast Breast neoplasm [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000149158 COSM1178608 rs193920750 CA174472	902	Q>H	Malignant tumor of prostate prostate [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
VAR_055435 rs28933368 COSM684 CA123594 RCV000014892	914	E>K	GLM; somatic mutation; unknown pathological significance Glioma susceptibility 1 (glm1) central_nervous_system Glioma susceptibility 1 [UniProt, Ensembl, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
CA269871 RCV000119365 rs104886025	1049	S>N	Familial cancer of breast [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs2059860543 RCV001293825	1162	P>missing	Colorectal cancer [ClinVar]	Yes	ClinVar dbSNP
CA399266396 rs1379316719	2	E>G		No	ClinGen TOPMed
rs1039589946 CA290420195	4	A>S		No	ClinGen TOPMed gnomAD
CA399266430 rs1428243929	4	A>V		No	ClinGen TOPMed
CA399266553 rs1456994901	11	L>F		No	ClinGen gnomAD
CA399266571 rs1318994039	12	L>F		No	ClinGen TOPMed gnomAD
CA399266589 rs1263781765	13	L>F		No	ClinGen Ensembl
CA399266600 rs1442246817	14	A>S		No	ClinGen gnomAD
rs1293505485 CA399266607	14	A>V		No	ClinGen gnomAD
CA158544 RCV000120736 rs193171026	15	L>F		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1567892325 CA399266648	16	L>F		No	ClinGen Ensembl
CA399266637 rs1225599701	16	L>V		No	ClinGen gnomAD
rs1307888184 CA399266653	17	P>S		No	ClinGen TOPMed gnomAD
CA399266649 rs1307888184	17	P>T		No	ClinGen TOPMed gnomAD
CA399266677 rs1184958761	18	P>S		No	ClinGen TOPMed
CA290420212 rs993479758	19	G>A		No	ClinGen TOPMed
rs1486972911 CA399266709	19	G>R		No	ClinGen TOPMed
rs1004896536 CA290420215	21	A>V		No	ClinGen TOPMed gnomAD
CA290420219 rs896376245	22	S>N		No	ClinGen TOPMed gnomAD
CA8533528 rs755921683	25	V>A		No	ClinGen ExAC TOPMed gnomAD
CA399269882 rs1365546088	27	T>I		No	ClinGen gnomAD
CA8533529 rs779913120	27	T>P		No	ClinGen ExAC TOPMed gnomAD
CA399269913 rs1284110310	28	G>D		No	ClinGen gnomAD
CA399269889 rs564064363	28	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs564064363 CA8533531	28	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8533532 rs778487069	30	D>Y		No	ClinGen ExAC gnomAD
RCV000120747 CA158619 rs546886845	31	M>I		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs546886845 CA399270010	31	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA290422442 rs998740859	31	M>L		No	ClinGen TOPMed gnomAD
CA290422459 rs921911454	34	R>Q		No	ClinGen TOPMed gnomAD
rs149937802 CA8533535	34	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs777171280 CA8533537	35	L>P		No	ClinGen ExAC gnomAD
CA8533539 rs765607521	37	A>P		No	ClinGen ExAC gnomAD
CA399270173 rs1459247021	38	S>G		No	ClinGen TOPMed
CA399270169 rs1459247021	38	S>R		No	ClinGen TOPMed
rs1216236852 CA399270199	39	P>A		No	ClinGen gnomAD
rs763193414 CA8533541	40	E>K		No	ClinGen ExAC TOPMed gnomAD
CA399270372 rs1597859885	43	L>P		No	ClinGen Ensembl
rs1311415529 CA399270405	44	D>V		No	ClinGen TOPMed
CA399270432 rs1281942958	45	M>I		No	ClinGen gnomAD
CA158601 rs587778266 RCV000120745	45	M>V		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs764222200 CA8533542	46	L>P		No	ClinGen ExAC gnomAD
CA399270465 rs1236052395	47	R>C		No	ClinGen gnomAD
RCV000120746 CA158610 rs144019910	47	R>H		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1187611727 CA399270521	49	L>F		No	ClinGen gnomAD
rs1220384939 CA399270600	51	Q>H		No	ClinGen Ensembl
rs1390107974 CA399270589	51	Q>R		No	ClinGen gnomAD
rs140441229 CA8533543	57	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA399270766 rs1298421770	58	G>E		No	ClinGen TOPMed
rs1332501526 CA399270826	60	L>V		No	ClinGen gnomAD
rs766186178 CA8533544	61	E>Q		No	ClinGen ExAC gnomAD
rs1013215187 CA290422498	62	L>V		No	ClinGen Ensembl
CA8533545 rs753655456	63	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1364385133 CA399271031	66	P>L		No	ClinGen gnomAD
rs778575008 CA8533547	67	T>A		No	ClinGen ExAC TOPMed gnomAD
CA8533548 rs752339377	67	T>I		No	ClinGen ExAC gnomAD
rs757899978 CA8533549	68	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8533550 rs777347427	69	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1449036371 CA399271235	75	Q>*		No	ClinGen TOPMed gnomAD
rs61737968 CA158698 RCV000120758	79	E>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA399271698 rs1235532423	81	Q>*		No	ClinGen gnomAD
rs376524324 CA8533584	84	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8533585 rs759478535	86	I>V		No	ClinGen ExAC TOPMed gnomAD
rs775382058 CA8533587	87	A>T		No	ClinGen ExAC TOPMed gnomAD
rs762638680 CA8533588	88	H>Q		No	ClinGen ExAC gnomAD
CA399271932 rs1181714248	88	H>Y		No	ClinGen gnomAD
rs763850846 CA8533589	90	Q>P		No	ClinGen ExAC gnomAD
rs1368945502 CA399272157	93	Q>R		No	ClinGen gnomAD
rs767151455 CA8533592	95	P>L		No	ClinGen ExAC gnomAD
rs756720659 CA8533595	100	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs749886389 CA8533594	100	R>W		No	ClinGen ExAC TOPMed gnomAD
CA290423171 rs539140755	101	I>T		No	ClinGen Ensembl
rs950730453 CA290423176	103	R>Q		No	ClinGen Ensembl
CA399272519 rs1348253156	105	T>I		No	ClinGen gnomAD
rs1597862039 CA399272496	105	T>P		No	ClinGen Ensembl
CA399272534 rs1395467940	106	Q>E		No	ClinGen TOPMed
CA399272550 rs1416951791	106	Q>H		No	ClinGen gnomAD
rs749711404 CA8533597	110	D>G		No	ClinGen ExAC TOPMed gnomAD
rs749711404 CA399272655	110	D>V		No	ClinGen ExAC TOPMed gnomAD
CA399272670 rs1340287026	111	N>S		No	ClinGen gnomAD
rs1253654469 CA399272687	112	Y>C		No	ClinGen gnomAD
rs1272695341 CA399272732	115	A>T		No	ClinGen gnomAD
rs748301823 CA8533600	115	A>V		No	ClinGen ExAC gnomAD
rs1423090731 CA399272769	116	V>A		No	ClinGen gnomAD
CA399272760 rs1256572460	116	V>M		No	ClinGen gnomAD
rs1597862169 CA399272864	121	D>A		No	ClinGen Ensembl
CA8533604 rs769775277	121	D>N		No	ClinGen ExAC gnomAD
rs141135746 CA290423212	122	P>A		No	ClinGen ESP gnomAD
rs370959592 CA8533605 COSM705320	122	P>L	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA399272913 rs1283546661	124	N>Y		No	ClinGen Ensembl
CA290423232 rs970583285	127	T>P		No	ClinGen Ensembl
CA8533609 rs761564667	128	P>A		No	ClinGen ExAC TOPMed gnomAD
CA158707 rs373824622 RCV000120759	128	P>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs766949725 CA8533612	129	V>F		No	ClinGen ExAC gnomAD
CA290423255 rs865925114	134	P>Q		No	ClinGen Ensembl
CA8533613 rs754295165	134	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8533614 rs755427616	136	G>S		No	ClinGen ExAC gnomAD
rs200208742 CA290423263	137	L>P		No	ClinGen Ensembl
rs200208742 CA290423260	137	L>Q		No	ClinGen Ensembl
rs200208742 CA290423267	137	L>R		No	ClinGen Ensembl
rs748476466 CA8533616	138	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs779156384 CA8533615	138	R>W		No	ClinGen ExAC TOPMed gnomAD
rs758646541 CA8533617	139	E>D		No	ClinGen ExAC gnomAD
rs1304310205 CA399273149	142	L>V		No	ClinGen TOPMed
rs1249755832 CA399273159	143	R>*		No	ClinGen gnomAD
CA399273166 rs185670819	143	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA158725 RCV000120761 COSM1382867 rs185670819	143	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA399273174 rs1187893378	144	S>N		No	ClinGen gnomAD
RCV001461359 RCV000120760 rs527779103 CA158716	145	L>F		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA290423656 rs200963868	151	G>V		No	ClinGen Ensembl
rs151122410 CA8533631	152	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs778041266 CA8533633	153	V>L		No	ClinGen ExAC gnomAD
CA8533635 rs757446217	154	L>F		No	ClinGen ExAC TOPMed gnomAD
CA8533637 rs745921471	157	R>Q		No	ClinGen ExAC gnomAD
COSM978663 rs781137961 CA8533636	157	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA399275074 rs768502081	158	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1474799396 CA399275096	159	P>L		No	ClinGen TOPMed
CA399275082 rs778888794	159	P>S		No	ClinGen ExAC TOPMed gnomAD
rs778888794 CA8533639	159	P>T		No	ClinGen ExAC TOPMed gnomAD
CA399275112 rs1327422858	160	Q>L		No	ClinGen gnomAD
rs774604250 CA290423683	161	L>V		No	ClinGen Ensembl
rs1567899208 CA399275208	163	Y>C		No	ClinGen Ensembl
CA8533640 rs747995543	164	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs771986239 CA8533641	165	D>H		No	ClinGen ExAC TOPMed gnomAD
CA399275296 rs1227559137	166	T>M		No	ClinGen gnomAD
CA399275399 rs1269105876	170	K>E		No	ClinGen TOPMed
rs1269105876 CA399275398	170	K>Q		No	ClinGen TOPMed
CA399275561 rs1222267645	175	K>R		No	ClinGen TOPMed gnomAD
CA399275568 rs1222267645	175	K>T		No	ClinGen TOPMed gnomAD
rs776032539 CA8533645	177	N>S		No	ClinGen ExAC gnomAD
rs1053130436 CA290423703	178	Q>E		No	ClinGen TOPMed gnomAD
rs1053130436 CA399275635	178	Q>K		No	ClinGen TOPMed gnomAD
CA290423716 rs1010848650	183	L>V		No	ClinGen Ensembl
rs1416532705 CA399275873	186	T>I		No	ClinGen gnomAD
rs765706190 CA8533648	188	R>C		No	ClinGen ExAC TOPMed gnomAD
rs763371007 CA8533650	188	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8533649 rs765706190	188	R>S		No	ClinGen ExAC TOPMed gnomAD
CA290423743 rs531563820	190	R>P		No	ClinGen 1000Genomes ExAC gnomAD
CA8533652 rs531563820	190	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs753419830 CA8533651	190	R>W		No	ClinGen ExAC TOPMed gnomAD
rs769335702 CA8533665	193	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs764545872 CA8533668	194	P>L		No	ClinGen ExAC gnomAD
CA8533667 rs763458661	194	P>S		No	ClinGen ExAC gnomAD
CA399276277 rs1209871684	195	C>Y		No	ClinGen gnomAD
CA399276313 rs1241783659	196	S>F		No	ClinGen gnomAD
rs113619125 CA8533669	197	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767673890 CA8533671	198	M>I		No	ClinGen ExAC gnomAD
CA399276364 rs1451675784	198	M>L		No	ClinGen TOPMed gnomAD
CA290423904 rs908142099	198	M>T		No	ClinGen Ensembl
rs750651941 CA8533672	201	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1426154971 CA399276523	202	S>F		No	ClinGen TOPMed gnomAD
CA399276501 rs1185455152	202	S>P		No	ClinGen TOPMed
rs971655376 CA290423911	203	R>C		No	ClinGen TOPMed gnomAD
CA399276545 rs896171398	203	R>H		No	ClinGen TOPMed gnomAD
CA290423913 rs896171398	203	R>P		No	ClinGen TOPMed gnomAD
rs1265935073 CA399276863	211	D>Y		No	ClinGen TOPMed
CA399276918 rs1363819722	212	C>W		No	ClinGen gnomAD
rs753902254 CA8533675	214	S>I		No	ClinGen ExAC gnomAD
rs770976272 CA8533702	216	T>M		No	ClinGen ExAC TOPMed gnomAD
CA8533704 COSM3387843 rs768151310	217	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs779346332 CA8533705 COSM327267	217	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA399277331 rs1473418882	218	T>A		No	ClinGen TOPMed gnomAD
CA399277347 rs1182661036	218	T>I		No	ClinGen gnomAD
CA290424035 rs1004581055	219	V>L		No	ClinGen Ensembl
rs1164981758 CA399277516	222	G>D		No	ClinGen gnomAD
rs772393268 CA8533707	222	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1390819673 CA399277544	223	G>D		No	ClinGen gnomAD
rs1308425150 CA399277531	223	G>S		No	ClinGen Ensembl
CA399277625 rs1404246175	225	A>V		No	ClinGen gnomAD
rs760895559 CA8533709	226	R>C		No	ClinGen ExAC gnomAD
CA8533710 rs745625627	226	R>H		No	ClinGen ExAC TOPMed gnomAD
CA290424048 rs981689859	229	G>R		No	ClinGen gnomAD
rs776960538 CA8533711	230	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8533712 rs759753872	232	P>T		No	ClinGen ExAC gnomAD
CA399278138 rs1220372519	235	C>Y		No	ClinGen gnomAD
CA399278252 rs1276981083	237	H>R		No	ClinGen gnomAD
rs1483523641 CA399278332	238	E>D		No	ClinGen gnomAD
CA399278339 rs1290537200	239	Q>*		No	ClinGen TOPMed
CA8533714 rs752656997	241	A>T		No	ClinGen ExAC gnomAD
rs533090552 CA8533715	243	G>S		No	ClinGen ExAC TOPMed gnomAD
CA8533716 rs767309845	243	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1443426897 CA399278508	244	C>Y		No	ClinGen gnomAD
CA8533718 rs779750598	250	S>P		No	ClinGen ExAC gnomAD
rs777081311 CA8533730	256	L>P		No	ClinGen ExAC gnomAD
rs1567900439 CA399278941	257	H>Y		No	ClinGen Ensembl
rs769870618 CA8533732	259	N>S		No	ClinGen ExAC TOPMed gnomAD
rs762919589 CA8533734	260	H>Y		No	ClinGen ExAC gnomAD
rs548076348 CA8533735	262	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA8533736 rs750324803	263	I>F		No	ClinGen ExAC gnomAD
rs750324803 CA399279093	263	I>V		No	ClinGen ExAC gnomAD
rs773759626 CA290424159	267	H>Y		No	ClinGen Ensembl
rs200382130 CA8533739	270	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8533740 rs754656388	270	A>V		No	ClinGen ExAC gnomAD
CA8533742 rs752295912	273	T>I		No	ClinGen ExAC gnomAD
CA8533743 rs757811990	278	T>K		No	ClinGen ExAC TOPMed gnomAD
CA399279431 rs757811990	278	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1429013623 CA399279502	281	S>Y		No	ClinGen gnomAD
rs1161929692 CA399279533	282	M>I		No	ClinGen gnomAD
CA8533744 rs778408285	282	M>L		No	ClinGen ExAC gnomAD
CA8533746 rs149210045	286	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA399279616 rs149210045	286	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA8533747 rs760205387	288	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1387549970 CA399279641	288	R>W		No	ClinGen gnomAD
CA8533748 rs746190897	290	T>A		No	ClinGen ExAC gnomAD
CA8533750 rs775544453	292	G>S		No	ClinGen ExAC gnomAD
CA399279749 rs1258412021	293	A>T		No	ClinGen gnomAD
CA290424189 rs866985163	294	S>N		No	ClinGen Ensembl
CA399279975 rs1191408638	300	P>L		No	ClinGen TOPMed gnomAD
rs1191408638 CA399279971	300	P>R		No	ClinGen TOPMed gnomAD
CA8533770 rs768855063	302	N>I		No	ClinGen ExAC gnomAD
CA399281712 rs768855063	302	N>S		No	ClinGen ExAC gnomAD
COSM3819453 CA399281967 rs1308928763	306	T>M	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM560482 CA8533774 rs776515406	308	V>M	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1597867267 CA399282197	312	T>P		No	ClinGen Ensembl
CA8533777 rs775294491	314	V>I		No	ClinGen ExAC gnomAD
rs1230152304 CA399282425	318	H>Q		No	ClinGen gnomAD
rs1396809633 CA399282419	318	H>R		No	ClinGen TOPMed
CA8533778 rs762547363	318	H>Y		No	ClinGen ExAC gnomAD
rs1273270181 CA399282475	320	Q>E		No	ClinGen gnomAD
CA399282556 rs1301941452	322	V>A		No	ClinGen TOPMed
rs1468532659 CA399282593	323	T>S		No	ClinGen TOPMed
CA399282624 rs1202895125	325	E>K		No	ClinGen gnomAD
CA8533780 rs763793826	328	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8533779 rs763793826	328	T>K		No	ClinGen ExAC TOPMed gnomAD
rs768206712 CA8533782	330	R>Q		No	ClinGen ExAC gnomAD
CA8533781 rs761376658	330	R>W		No	ClinGen ExAC gnomAD
rs564382616 CA8533783	331	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756588194 CA399282876	332	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1409114304 CA399282940	334	C>F		No	ClinGen gnomAD
CA399282944 rs1409114304	334	C>Y		No	ClinGen gnomAD
CA8533788 rs532077147	340	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8533851 rs747993530	343	Y>C		No	ClinGen ExAC gnomAD
CA290425347 rs1037129509	344	G>D		No	ClinGen Ensembl
CA8533852 rs758204762	344	G>R		No	ClinGen ExAC TOPMed gnomAD
rs758204762 CA399283787	344	G>S		No	ClinGen ExAC TOPMed gnomAD
CA399283846 rs1460443371	346	G>S		No	ClinGen gnomAD
CA8533854 rs746686273	347	M>K		No	ClinGen ExAC TOPMed gnomAD
CA399283948 rs1263270004	348	E>G		No	ClinGen gnomAD
rs559242250 CA8533857	350	L>F		No	ClinGen ExAC gnomAD
CA8533859 rs775972596	351	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs763367024 CA8533860	352	E>G		No	ClinGen ExAC gnomAD
CA399284112 rs1197249604	353	V>A		No	ClinGen TOPMed
rs1197249604 CA399284113	353	V>G		No	ClinGen TOPMed
CA8533861 rs769082334	353	V>L		No	ClinGen ExAC gnomAD
CA399284091 rs769082334	353	V>M		No	ClinGen ExAC gnomAD
rs918747921 CA290425382	354	R>W		No	ClinGen Ensembl
rs1385831939 CA399284281	357	T>A		No	ClinGen gnomAD
CA290425386 rs373474372	360	N>I		No	ClinGen ESP TOPMed
CA399284646 rs1324411001	365	A>S		No	ClinGen gnomAD
CA399284688 rs1435728387	366	G>A		No	ClinGen TOPMed
rs767588058 CA8533864	366	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1275492389 CA399284881	370	I>M		No	ClinGen TOPMed
CA399284913 rs1243660575	371	F>C		No	ClinGen gnomAD
rs149567593 CA399284929	371	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA290425422 rs752664566	375	A>S		No	ClinGen ExAC TOPMed gnomAD
rs752664566 CA8533868	375	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8533869 rs758210687	378	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8533870 rs148068883	380	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1481595696 CA399285422	382	D>H		No	ClinGen gnomAD
rs751270411 CA8533871	383	G>E		No	ClinGen ExAC gnomAD
rs753902259 CA8533886	384	D>N		No	ClinGen ExAC gnomAD
CA158547 rs141116145 RCV000120737	386	A>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8533888 rs141116145	386	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780881510 CA8533890	388	N>H		No	ClinGen ExAC gnomAD
rs750090147 CA8533891	388	N>S		No	ClinGen ExAC gnomAD
CA8533892 rs755701444	390	A>T		No	ClinGen ExAC TOPMed gnomAD
RCV000120738 CA158556 rs587778264	390	A>V		No	ClinGen ClinVar dbSNP gnomAD
rs748700504 CA8533894	391	P>L		No	ClinGen ExAC TOPMed gnomAD
CA290430359 rs866790842	393	Q>*		No	ClinGen Ensembl
CA8533898 rs772548631	394	P>L		No	ClinGen ExAC gnomAD
rs919231881 CA290430365	395	E>Q		No	ClinGen TOPMed
CA8533899 rs773649491	398	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA8533900 rs747239268	399	V>M		No	ClinGen ExAC gnomAD
rs377649991 CA290430370	403	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399289223 rs1206146902	406	I>T		No	ClinGen gnomAD
CA158565 RCV000120739 rs587778265	411	Y>D		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA8533918 rs758908894	412	I>V		No	ClinGen ExAC TOPMed gnomAD
rs747327229 CA8533920	416	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8533922 rs776714622	417	D>A		No	ClinGen ExAC TOPMed gnomAD
CA399289611 rs1337551062	417	D>H		No	ClinGen TOPMed
CA8533923 rs746020984	419	L>R		No	ClinGen ExAC gnomAD
rs769778398 CA399289725	422	L>F		No	ClinGen ExAC TOPMed gnomAD
CA8533924 rs769778398	422	L>I		No	ClinGen ExAC TOPMed gnomAD
rs199668084 CA290430485	423	S>G		No	ClinGen 1000Genomes TOPMed
COSM3387846 CA8533926 rs142783371	424	V>I	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA290430499 rs891454367	428	L>V		No	ClinGen TOPMed
rs1322685342 CA399289935	429	Q>H		No	ClinGen TOPMed
rs767398280 CA8533927	430	V>I		No	ClinGen ExAC gnomAD
CA290430506 rs1029745309	432	R>Q		No	ClinGen TOPMed
rs367606199 CA8533928	432	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA399290005 rs1477349434	433	G>R		No	ClinGen gnomAD
rs147382623 CA8533929	434	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8533930 rs766083302	437	H>Y		No	ClinGen ExAC gnomAD
rs756345214 CA8533961	440	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8533963 rs749440298	442	S>L		No	ClinGen ExAC gnomAD
CA399290499 rs1351684417	444	T>I		No	ClinGen gnomAD
rs1359828514 CA399290528	446	Q>E		No	ClinGen gnomAD
rs930754368 CA290430684	447	G>A		No	ClinGen TOPMed gnomAD
rs930754368 CA290430675	447	G>E		No	ClinGen TOPMed gnomAD
rs1158382665 CA399290600	449	G>S		No	ClinGen TOPMed
rs770857517 CA8533967	450	I>V		No	ClinGen ExAC gnomAD
CA290430703 rs1047793418	451	S>N		No	ClinGen gnomAD
rs4252633 CA158583 RCV000120741 VAR_016317	452	W>C		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs759352819 CA8533968	453	L>V		No	ClinGen ExAC gnomAD
rs1410783126 CA399290735	454	G>E		No	ClinGen TOPMed
CA8533969 rs200497646	456	R>C		No	ClinGen ExAC TOPMed gnomAD
CA399290857 rs1190280142	460	E>D		No	ClinGen TOPMed
rs373192991 CA8533972	462	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA399290879 rs1457127715	462	G>R		No	ClinGen gnomAD
CA399290878 rs1457127715	462	G>S		No	ClinGen gnomAD
CA8533971 rs373192991	462	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1399148945 CA399290926	464	G>V		No	ClinGen gnomAD
CA8533973 rs751074421	466	A>V		No	ClinGen ExAC gnomAD
CA399290994 rs1328775165	467	L>F		No	ClinGen gnomAD
rs1374683189 CA399291029	468	I>T		No	ClinGen gnomAD
CA399291082 rs1597873512	469	H>P		No	ClinGen Ensembl
rs201097345 CA8533974	470	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768049972 CA8533975	472	T>I		No	ClinGen ExAC gnomAD
CA8533977 rs756500045	473	H>D		No	ClinGen ExAC gnomAD
CA290430754 rs756500045	473	H>Y		No	ClinGen ExAC gnomAD
rs1033535912 CA399291238	474	L>I		No	ClinGen gnomAD
CA290430758 rs1033535912	474	L>V		No	ClinGen gnomAD
CA290430767 rs1025899392	476	F>S		No	ClinGen TOPMed
CA8533978 rs780201941	476	F>V		No	ClinGen ExAC gnomAD
CA399291337 rs755121772	477	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8533980 rs755121772	477	V>M		No	ClinGen ExAC TOPMed gnomAD
CA8533981 rs201021373	479	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8533983 rs370565888	481	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA399291422 rs1597873615	481	P>T		No	ClinGen Ensembl
rs1375073443 CA399291497	483	D>E		No	ClinGen gnomAD
CA399291491 rs1160406748	483	D>G		No	ClinGen TOPMed
rs571837012 CA8533985	483	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8533988 rs371450390	487	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs371450390 CA8533987	487	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1686255 CA8533986 rs375382055	487	R>W	NS skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8533989 rs768374532	488	N>K		No	ClinGen ExAC gnomAD
CA158574 rs142456637 RCV000120740	489	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA290430822 rs987507136	489	P>S		No	ClinGen TOPMed gnomAD
rs140670446 COSM107183 CA290430850	491	Q>*	skin [Cosmic]	No	ClinGen cosmic curated ESP TOPMed
rs140670446 CA290430848	491	Q>E		No	ClinGen ESP TOPMed
rs1191789317 CA399291776	493	L>V		No	ClinGen TOPMed
rs879357054 CA290430851	495	H>P		No	ClinGen gnomAD
rs767978749 CA8533991	496	T>I		No	ClinGen ExAC gnomAD
CA8533992 rs145762641	497	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA399291933 rs1277370521	498	N>S		No	ClinGen gnomAD
CA8533995 rs199530208	499	R>G		No	ClinGen ExAC TOPMed gnomAD
rs182572604 CA8533996	499	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs182572604 CA8533997	499	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199530208 CA8533994	499	R>W		No	ClinGen ExAC TOPMed gnomAD
rs920792523 CA290430883	500	P>S		No	ClinGen Ensembl
CA399291972 rs1482645941	501	E>K		No	ClinGen TOPMed gnomAD
CA399291973 rs1482645941	501	E>Q		No	ClinGen TOPMed gnomAD
rs752759368 CA399292007	502	D>E		No	ClinGen ExAC TOPMed gnomAD
CA399291997 rs1198314054	502	D>Y		No	ClinGen gnomAD
CA290430889 rs983576212	503	E>D		No	ClinGen TOPMed
rs758497995 CA8533999	503	E>K		No	ClinGen ExAC TOPMed gnomAD
CA399292188 rs1358325733	506	G>S		No	ClinGen gnomAD
CA399292206 rs1293998208	507	E>K		No	ClinGen gnomAD
rs1377085949 CA399292312	512	H>Y		No	ClinGen gnomAD
CA399292349 rs1238891256	513	Q>H		No	ClinGen TOPMed gnomAD
CA8534018 rs371623072	516	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA399292411 rs759579850	517	R>P		No	ClinGen ExAC TOPMed gnomAD
rs759579850 CA8534019	517	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1487782215 CA399292492	521	W>*		No	ClinGen gnomAD
rs561322621 CA8534021	522	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs561322621 CA399292507	522	G>V		No	ClinGen 1000Genomes ExAC gnomAD
rs202202058 CA8534022	523	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1176949914 CA399292539	524	G>E		No	ClinGen gnomAD
rs1597874514 CA399292559	526	T>P		No	ClinGen Ensembl
CA399292600 rs1317541157	527	Q>H		No	ClinGen TOPMed
CA8534026 rs747838206	529	V>I		No	ClinGen ExAC gnomAD
rs771580372 CA8534027	530	N>S		No	ClinGen ExAC TOPMed gnomAD
CA290431173 rs140711914	531	C>R		No	ClinGen Ensembl
CA8534028 rs777363214	532	S>R		No	ClinGen ExAC gnomAD
rs746476368 CA8534029	535	L>F		No	ClinGen ExAC gnomAD
CA8534030 rs140980495	536	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA399292884 rs866163885	537	G>R		No	ClinGen gnomAD
rs866163885 CA290431192	537	G>S		No	ClinGen gnomAD
rs777116958 CA8534031	538	Q>H		No	ClinGen ExAC
rs1415101808 CA399292992	541	V>M		No	ClinGen TOPMed
CA8534033 rs770157051	542	E>*		No	ClinGen ExAC gnomAD
rs1207166582 CA399293095	545	R>*		No	ClinGen gnomAD
CA8534035 rs150203173	545	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs565582943 CA8534036	548	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
rs565582943 CA290431207	548	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
rs532713027 CA8534037	549	G>W		No	ClinGen 1000Genomes ExAC gnomAD
rs1224275634 CA399293281	550	L>V		No	ClinGen TOPMed gnomAD
CA399293527 rs1430713880	557	A>V		No	ClinGen gnomAD
rs767713671 CA8534062	559	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA399293582 rs1597874908	559	H>R		No	ClinGen Ensembl
CA8534064 rs201470725	562	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1299172694 CA399293766	565	P>R		No	ClinGen gnomAD
rs1398622638 CA399293823	567	C>R		No	ClinGen gnomAD
rs1285769371 CA399293868	568	Q>E		No	ClinGen gnomAD
rs763863372 CA8534067	569	P>L		No	ClinGen ExAC gnomAD
CA399293927 rs1218756471	570	Q>E		No	ClinGen gnomAD
rs756836001 CA8534069	572	G>V		No	ClinGen ExAC gnomAD
rs1195763693 CA399294021	574	V>M		No	ClinGen TOPMed
CA290431425 rs778479390	577	F>C		No	ClinGen Ensembl
rs1252848592 CA399294176	578	G>E		No	ClinGen TOPMed
rs756686824 CA8534072	579	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1287673125 CA399295340	585	V>E		No	ClinGen gnomAD
rs1237088846 CA399295404	589	H>Y		No	ClinGen gnomAD
rs767216520 CA8534109	591	K>M		No	ClinGen ExAC TOPMed gnomAD
rs931758036 CA290431900	592	D>E		No	ClinGen Ensembl
rs750092447 CA8534110	593	P>L		No	ClinGen ExAC gnomAD
CA8534111 rs760310908	594	P>H		No	ClinGen ExAC gnomAD
CA8534114 rs755483857	597	V>M		No	ClinGen ExAC gnomAD
CA158592 rs145409713 RCV000120742	598	A>D		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs145409713 CA290431916	598	A>G		No	ClinGen ExAC TOPMed gnomAD
rs369903296 CA8534115	599	R>C		No	ClinGen ESP ExAC gnomAD
CA8534116 rs758820578	599	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1597876256 CA399295587	601	P>A		No	ClinGen Ensembl
rs747200104 CA399295616	602	S>R		No	ClinGen ExAC gnomAD
CA8534120 rs781179380	603	G>D		No	ClinGen ExAC TOPMed gnomAD
rs771145294 CA8534119	603	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1282253805 CA399295667	605	K>R		No	ClinGen TOPMed gnomAD
rs1282253805 CA399295664	605	K>T		No	ClinGen TOPMed gnomAD
rs1256869007 CA399295696	607	D>G		No	ClinGen gnomAD
CA399295689 rs1219238007	607	D>N		No	ClinGen gnomAD
CA399295722 rs1304926892	609	S>F		No	ClinGen TOPMed
CA8534123 rs774261411	610	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs377370642 CA8534124	611	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA399295799 rs1312573525	615	K>R		No	ClinGen TOPMed
CA399295821 rs1413869243	616	F>L		No	ClinGen TOPMed
CA399295905 rs1597876420	621	G>S		No	ClinGen Ensembl
CA8534128 rs766029214	622	A>T		No	ClinGen ExAC gnomAD
CA8534130 rs759078493	625	P>L		No	ClinGen ExAC TOPMed gnomAD
CA399295995 rs1173337736	627	P>S		No	ClinGen gnomAD
CA399296008 rs1412157429	628	I>L		No	ClinGen TOPMed
rs753267835 CA8534132	629	N>D		No	ClinGen ExAC gnomAD
CA8534133 rs758907167	629	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1258745095 CA399296049	631	T>S		No	ClinGen TOPMed
rs778312796 CA8534134	632	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs199726056 CA8534135	633	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA8534153 rs367599823	643	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8534156 rs750665964	644	A>T		No	ClinGen ExAC TOPMed gnomAD
rs370514427 CA8534158	645	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8534159 rs201784472	647	R>K		No	ClinGen ESP ExAC gnomAD
CA8534160 rs201784472	647	R>T		No	ClinGen ESP ExAC gnomAD
rs777759226 CA8534161	648	A>T		No	ClinGen ExAC gnomAD
rs778798172 CA8534184	650	P>L		No	ClinGen ExAC gnomAD
CA399299287 rs1332779143	650	P>S		No	ClinGen gnomAD
CA8534188 rs1801201	654	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1136201 CA290439001	655	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1196929947 CA399299614	660	G>D		No	ClinGen gnomAD
CA399299607 rs1317387900	660	G>S		No	ClinGen gnomAD
rs762407538 CA8534192	661	I>V		No	ClinGen ExAC gnomAD
CA399300720 rs1483724551	662	L>V		No	ClinGen gnomAD
CA399300791 rs1567911318	665	V>M		No	ClinGen Ensembl
CA8534195 rs372616729	668	G>R		No	ClinGen ESP ExAC gnomAD
CA399300863 rs372616729	668	G>R		No	ClinGen ESP ExAC gnomAD
rs900792840 CA290439052	669	V>M		No	ClinGen Ensembl
CA399300941 rs1312937127	670	V>G		No	ClinGen TOPMed
rs1168496712 CA399300943	671	F>L		No	ClinGen Ensembl
rs1423654581 CA399301008	673	I>N		No	ClinGen gnomAD
CA290439069 rs996814735	675	I>V		No	ClinGen Ensembl
CA399301107 rs1418604945	676	K>M		No	ClinGen TOPMed
CA399301121 rs1464672638	677	R>*		No	ClinGen gnomAD
CA399301125 rs1167835335	677	R>Q		No	ClinGen gnomAD
CA399301133 rs1377979176	678	R>W		No	ClinGen TOPMed
CA8534198 rs759608479	679	Q>E		No	ClinGen ExAC gnomAD
rs765387989 CA8534199	683	R>P		No	ClinGen ExAC TOPMed gnomAD
rs765387989 CA399301218	683	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA399301235 rs1302627802	684	K>R		No	ClinGen gnomAD
rs752669313 CA8534200	685	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA399301286 rs1190122730	686	T>M		No	ClinGen Ensembl
rs1402335179 CA399301295	687	M>L		No	ClinGen gnomAD
rs867851148 CA290439075	692	Q>K		No	ClinGen Ensembl
CA399301613 rs1192572638	699	P>T		No	ClinGen gnomAD
rs1441217225 CA399301651	701	T>I		No	ClinGen gnomAD
CA290439239 rs34602395	703	S>I		No	ClinGen Ensembl
rs868026167 CA399301694	704	G>*		No	ClinGen gnomAD
CA290439252 rs868026167 COSM3378168	704	G>R	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
CA399301812 rs1265427684	708	N>K		No	ClinGen TOPMed
CA290439265 rs959346230	709	Q>K		No	ClinGen Ensembl
CA290439273 rs991114244	712	M>L		No	ClinGen TOPMed
rs756073738 CA8534224	712	M>R		No	ClinGen ExAC gnomAD
rs779034594 CA290439303	713	R>Q		No	ClinGen Ensembl
rs1597884429 CA399301910	714	I>V		No	ClinGen Ensembl
CA290439305 rs967815855	719	E>K		No	ClinGen Ensembl
CA290439307 rs977818812	719	E>V		No	ClinGen Ensembl
CA399302122 rs1597884472	723	V>G		No	ClinGen Ensembl
rs1221984925 CA399302115	723	V>M		No	ClinGen gnomAD
rs1597884475 CA399302158	725	V>G		No	ClinGen Ensembl
CA399302248 rs1452141491	730	A>T		No	ClinGen gnomAD
rs1212469716 CA399302289	732	G>S		No	ClinGen gnomAD
CA8534230 rs757863234	735	Y>H		No	ClinGen ExAC gnomAD
CA399302376 rs1363569013	736	K>R		No	ClinGen gnomAD
CA399302489 rs1485579458	740	I>V		No	ClinGen gnomAD
rs781547782 CA8534252	746	V>M		No	ClinGen ExAC gnomAD
CA8534253 rs746301859	747	K>T		No	ClinGen ExAC gnomAD
rs1435457852 CA399302599	756	R>S		No	ClinGen TOPMed
VAR_042097 CA290439622 rs56366519	768	L>S		No	ClinGen UniProt Ensembl dbSNP
rs772054394 CA399302810	773	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8534278 rs772054394	773	V>M		No	ClinGen ExAC TOPMed gnomAD
CA8534279 rs773305795	774	M>I		No	ClinGen ExAC gnomAD
rs144434331 CA8534281	776	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA8534280 rs144434331	776	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000150654 CA176042 rs144434331 COSM18609	776	G>V	ovary oesophagus large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000038126 rs397516979	776	G>VC		No	ClinVar dbSNP
rs775190312 CA8534283	779	S>F		No	ClinGen ExAC gnomAD
rs1283982984 CA399302876	779	S>T		No	ClinGen TOPMed
rs1419499014 CA399302886	780	P>S		No	ClinGen gnomAD
rs1222468581 CA399302914	782	V>F		No	ClinGen TOPMed
COSM24613 rs968832437 CA290440546	784	R>C	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
COSM3734757 rs751226373 CA8534286	784	R>H	small_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8534288 rs766958268	793	T>M		No	ClinGen ExAC gnomAD
CA399303154 rs1374469776	794	V>L		No	ClinGen gnomAD
CA290440556 rs924725638	795	Q>*		No	ClinGen Ensembl
COSM85896 rs1391139604 CA399303179	795	Q>R	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1272619178 CA399303283	800	L>R		No	ClinGen gnomAD
rs755402782 CA8534294	803	Y>C		No	ClinGen ExAC gnomAD
rs866679558 CA290440567	803	Y>H		No	ClinGen Ensembl
rs1238981206 CA399303336	804	G>S		No	ClinGen gnomAD
CA399303373 rs1597886715	805	C>W		No	ClinGen Ensembl
rs146603731 CA8534295	808	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs977391376 CA290440569	808	D>H		No	ClinGen TOPMed gnomAD
CA8534297 rs775752713	811	R>Q		No	ClinGen ExAC gnomAD
CA8534296 rs748416534	811	R>W		No	ClinGen ExAC gnomAD
RCV000120748 CA158628 rs587778267	814	R>C		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1182733121 CA399303547	814	R>H		No	ClinGen TOPMed
CA135402 rs368094521 RCV002054687 RCV000038133	815	G>R		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA8534299 rs542027040	816	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8534300 rs775394020	816	R>H		No	ClinGen ExAC gnomAD
rs1381875722 CA399303686	820	Q>R		No	ClinGen gnomAD
CA399303747 rs1415919006	822	L>V		No	ClinGen gnomAD
rs1354152513 CA399303812	824	N>S		No	ClinGen gnomAD
COSM85897 CA399303847 rs1567913219	825	W>*	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated Ensembl
rs767164590 CA8534305	828	Q>H		No	ClinGen ExAC gnomAD
CA399304085 rs1567913381	834	S>N		No	ClinGen Ensembl
rs1184294117 CA399304123	836	L>R		No	ClinGen gnomAD
CA8534322 rs747967722	840	R>Q		No	ClinGen ExAC gnomAD
rs369828131 CA290440894	840	R>W		No	ClinGen ESP
CA399304395 rs1344653128	846	L>W		No	ClinGen gnomAD
CA399304428 rs1295382957	849	R>L		No	ClinGen gnomAD
rs1295382957 CA399304431	849	R>Q		No	ClinGen gnomAD
CA8534328 rs375043510	851	V>M		No	ClinGen ESP ExAC gnomAD
rs765811300 CA8534329	855	S>G		No	ClinGen ExAC gnomAD
rs1284822591 CA399304707	860	K>R		No	ClinGen gnomAD
COSM289684 CA399304913 rs1351325116	868	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA399304979 rs1251500711	871	D>N		No	ClinGen gnomAD
rs371081280 CA8534336	872	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8534335 rs371081280	872	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs375637720 CA8534338	874	E>K		No	ClinGen ESP ExAC gnomAD
rs1429903426 CA399305175	878	H>R		No	ClinGen TOPMed
CA8534339 rs747974836	880	D>H		No	ClinGen ExAC TOPMed gnomAD
rs747974836 CA399305208	880	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA399305251 rs1166920466	882	G>V		No	ClinGen TOPMed gnomAD
CA8534357 rs780037152	886	I>V		No	ClinGen ExAC gnomAD
rs1243781530 CA399305450	891	L>P		No	ClinGen gnomAD
CA399305535 rs758222990	896	R>G		No	ClinGen ExAC TOPMed gnomAD
rs777677468 COSM119971 CA8534360	896	R>H	ovary large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1196082930 COSM978678 CA399305555	897	R>Q	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA8534362 rs375135008	897	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA290441275 rs910494571	898	R>Q		No	ClinGen TOPMed gnomAD
CA399305567 rs1432453269	898	R>W		No	ClinGen TOPMed
CA290441293 rs188440186	902	Q>P		No	ClinGen Ensembl
rs952808668 CA290441315	906	W>R		No	ClinGen TOPMed gnomAD
CA399305684 rs952808668	906	W>R		No	ClinGen TOPMed gnomAD
CA399306452 rs1189478261	912	V>M		No	ClinGen TOPMed
CA399306527 rs1263919819	915	L>V		No	ClinGen gnomAD
CA8534375 rs753844448	922	P>R		No	ClinGen ExAC gnomAD
CA399306737 rs1455756168	924	D>E		No	ClinGen gnomAD
CA8534377 rs777570707	924	D>N		No	ClinGen ExAC TOPMed gnomAD
CA399306774 rs1567914269	926	I>N		No	ClinGen Ensembl
CA290441582 rs2172826	927	P>R		No	ClinGen Ensembl
CA8534381 rs201399875	929	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8534380 rs781070018	929	R>W		No	ClinGen ExAC TOPMed gnomAD
rs138957632 RCV000120749 CA158635	930	E>D		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA290441623 rs982304451	930	E>Q		No	ClinGen TOPMed
CA399306926 rs1324255598	933	D>E		No	ClinGen gnomAD
CA8534384 rs769262054	942	P>A		No	ClinGen ExAC TOPMed gnomAD
rs769262054 CA8534385	942	P>S		No	ClinGen ExAC TOPMed gnomAD
CA399307135 rs1262977426	943	Q>P		No	ClinGen gnomAD
rs772452342 CA8534387	945	P>S		No	ClinGen ExAC TOPMed gnomAD
CA399307216 rs1259746959	946	I>M		No	ClinGen gnomAD
rs1204570035 CA399307213	946	I>S		No	ClinGen gnomAD
rs1408226689 CA399307228	947	C>Y		No	ClinGen TOPMed
CA399307314 rs1389205826	950	D>E		No	ClinGen Ensembl
rs766483219 CA8534391	951	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8534415 rs767556375	961	I>M		No	ClinGen ExAC TOPMed gnomAD
rs761891977 CA399307832	961	I>N		No	ClinGen ExAC TOPMed gnomAD
CA8534414 rs761891977	961	I>T		No	ClinGen ExAC TOPMed gnomAD
CA399307872 rs1172650116	962	D>E		No	ClinGen TOPMed
CA8534416 rs750299289	962	D>G		No	ClinGen ExAC gnomAD
CA399307877 rs1597889898	963	S>T		No	ClinGen Ensembl
rs767813285 CA290442352	964	E>Q		No	ClinGen Ensembl
CA8534417 rs755874371	966	R>Q		No	ClinGen ExAC gnomAD
CA290442359 rs753151506	966	R>W		No	ClinGen Ensembl
CA8534419 rs753460336	970	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8534418 COSM88180 rs766129765	970	R>W	ovary large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM88181 CA399308108 rs1421674174	971	E>G	ovary large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs778440239 CA8534421	972	L>S		No	ClinGen ExAC gnomAD
CA8534423 rs758973569	978	R>C		No	ClinGen ExAC gnomAD
rs778243900 CA8534424	978	R>H		No	ClinGen ExAC TOPMed gnomAD
rs778243900 CA399308319	978	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8534425 rs747461130	979	M>V		No	ClinGen ExAC gnomAD
rs771206209 CA8534426	985	R>C		No	ClinGen ExAC gnomAD
rs1377136060 CA399308501	985	R>H		No	ClinGen gnomAD
CA399308585 rs1216520288	988	V>F		No	ClinGen gnomAD
CA290442435 rs202110098	989	I>L		No	ClinGen ExAC TOPMed gnomAD
CA8534427 rs202110098	989	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1464157005 CA399308849	994	L>F		No	ClinGen TOPMed gnomAD
CA8534443 rs774636044	994	L>S		No	ClinGen ExAC gnomAD
CA399308869 rs1597890400	995	G>A		No	ClinGen Ensembl
rs1186338981 CA399308897	996	P>L		No	ClinGen gnomAD
CA8534444 rs752037952	997	A>D		No	ClinGen ExAC gnomAD
CA399308941 rs1173435256	998	S>I		No	ClinGen TOPMed gnomAD
rs1173435256 CA399308935	998	S>N		No	ClinGen TOPMed gnomAD
rs1238729193 CA399308957	999	P>S		No	ClinGen TOPMed gnomAD
rs781460225 CA8534446	1000	L>S		No	ClinGen ExAC gnomAD
CA399309013 rs1597890456	1001	D>E		No	ClinGen Ensembl
rs746213900 CA8534447	1001	D>Y		No	ClinGen ExAC gnomAD
rs1159921692 CA399309030	1002	S>T		No	ClinGen gnomAD
CA399309059 rs1455820265	1003	T>S		No	ClinGen gnomAD
CA8534449 rs780434636	1006	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8534450 rs749454186	1006	R>H		No	ClinGen ExAC TOPMed gnomAD
CA399309198 rs1225458310	1010	E>G		No	ClinGen gnomAD
CA399309187 rs1365318989	1010	E>K		No	ClinGen gnomAD
rs774520188 CA8534452	1012	D>N		No	ClinGen ExAC gnomAD
CA399309289 rs1468656715	1014	M>I		No	ClinGen gnomAD
rs760573708 CA8534453	1014	M>V		No	ClinGen ExAC gnomAD
rs140272156 CA8534454	1015	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399309315 rs1323063104	1016	D>H		No	ClinGen TOPMed
CA8534455 rs776359403	1020	A>G		No	ClinGen ExAC gnomAD
rs1458294024 CA399309387	1020	A>S		No	ClinGen TOPMed
COSM705317 rs1393814915 CA399309403	1021	E>Q	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1407305061 CA399309504	1025	V>I		No	ClinGen gnomAD
rs192441765 CA8534457	1026	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399309534 rs192441765	1026	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1395420735 CA399309611	1029	G>D		No	ClinGen TOPMed gnomAD
rs895225081 CA290442668	1029	G>S		No	ClinGen TOPMed
CA8534460 COSM3717321 rs762553217	1030	F>C	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1322645796 CA399309659	1031	F>S		No	ClinGen gnomAD
CA8534461 rs763617317	1036	A>V		No	ClinGen ExAC gnomAD
rs201905649 CA8534463	1037	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399309793 rs1567915835	1037	P>S		No	ClinGen Ensembl
COSM1251415 rs566053951 CA8534465	1039	A>T	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA399309846 rs1335074269	1041	G>D		No	ClinGen TOPMed gnomAD
CA399309872 rs1208933540	1043	V>D		No	ClinGen gnomAD
CA399309870 rs1300340175	1043	V>F		No	ClinGen TOPMed
rs756551038 CA8534466	1045	H>Q		No	ClinGen ExAC gnomAD
rs377602610 CA8534467	1048	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8534468 rs749539903	1048	R>H		No	ClinGen ExAC gnomAD
CA8534469 rs199905364	1050	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA290442769 rs1030663194	1051	S>A		No	ClinGen TOPMed
CA290442777 rs139630504	1051	S>Y		No	ClinGen Ensembl
CA8534472 rs370561486	1053	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA290443117 rs912915297	1054	S>T		No	ClinGen Ensembl
rs1479305772 CA399310116	1056	G>D		No	ClinGen gnomAD
COSM1205572 CA8534497 rs574436396	1056	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA399310130 rs1198735577	1057	G>E		No	ClinGen gnomAD
rs201374810 CA8534500 COSM122889	1058	D>A	upper_aerodigestive_tract prostate breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA399310145 rs1597891498	1058	D>E		No	ClinGen Ensembl
CA399310139 rs1264035206	1058	D>Y		No	ClinGen gnomAD
CA8534501 rs772570852	1059	L>P		No	ClinGen ExAC gnomAD
CA158642 rs141142822 RCV000120750	1061	L>P		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8534502 rs376450229	1064	E>K		No	ClinGen ESP ExAC TOPMed
CA399310214 rs997168711	1065	P>A		No	ClinGen TOPMed gnomAD
rs997168711 CA290443182	1065	P>S		No	ClinGen TOPMed gnomAD
rs1597891548 CA399310236	1067	E>K		No	ClinGen Ensembl
rs754310116 CA8534503	1068	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1465484829 CA399310272	1069	E>A		No	ClinGen gnomAD
CA290443187 rs1029099711	1069	E>D		No	ClinGen TOPMed gnomAD
rs953143516 CA399310322	1072	R>S		No	ClinGen TOPMed gnomAD
rs953143516 CA290443193	1072	R>S		No	ClinGen TOPMed gnomAD
rs1178111397 CA399310316	1072	R>T		No	ClinGen TOPMed gnomAD
CA8534504 rs202149348	1073	S>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1207391721 CA399310351	1074	P>S		No	ClinGen TOPMed
CA8534505 rs765456216	1077	P>A		No	ClinGen ExAC gnomAD
CA290443205 rs748800582	1078	S>F		No	ClinGen TOPMed gnomAD
rs1168483412 CA399310414	1078	S>P		No	ClinGen TOPMed gnomAD
CA290443227 rs1038581447 COSM1251413	1079	E>K	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs772604432 CA290443229	1081	A>P		No	ClinGen TOPMed
CA399310463 rs772604432	1081	A>T		No	ClinGen TOPMed
rs1449896791 CA399310503	1083	S>A		No	ClinGen TOPMed
rs779955263 CA8534511	1084	D>E		No	ClinGen ExAC gnomAD
CA8534509 rs200796676	1084	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs200796676 CA8534510	1084	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1208224755 CA399310546	1085	V>I		No	ClinGen gnomAD
rs749154778 CA8534512	1088	G>D		No	ClinGen ExAC gnomAD
rs1193632490 CA399310607	1088	G>S		No	ClinGen Ensembl
CA399310640 rs1470001386	1089	D>A		No	ClinGen TOPMed gnomAD
CA399310634 rs1470001386	1089	D>G		No	ClinGen TOPMed gnomAD
CA399310653 rs1597891766	1090	L>R		No	ClinGen Ensembl
rs768526064 CA8534513	1090	L>V		No	ClinGen ExAC TOPMed gnomAD
CA399310661 rs1567916468	1091	G>E		No	ClinGen Ensembl
CA8534515 rs747883291	1092	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1432512562 CA399310668	1092	M>T		No	ClinGen gnomAD
CA8534516 rs771588633	1093	G>E		No	ClinGen ExAC gnomAD
rs1597891828 CA399310680	1094	A>P		No	ClinGen Ensembl
rs373724781 CA8534517	1096	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA8534518 rs760245870	1097	G>R		No	ClinGen ExAC gnomAD
rs1390533531 CA399310846	1100	S>N		No	ClinGen gnomAD
rs1364114001 CA399310865	1101	L>F		No	ClinGen gnomAD
CA8534520 rs200455249	1102	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8534521 rs759923732	1103	T>I		No	ClinGen ExAC TOPMed gnomAD
CA290443387 rs868797794	1104	H>R		No	ClinGen gnomAD
CA290443393 rs111611886	1105	D>N		No	ClinGen Ensembl
CA399312520 rs1337217429	1108	P>S		No	ClinGen gnomAD
rs763276772 CA8534524	1111	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs143958183 CA8534523	1111	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA8534525 rs764220279	1113	S>G		No	ClinGen ExAC gnomAD
rs1207872588 CA399312601	1115	D>V		No	ClinGen gnomAD
CA290443424 rs1032811228	1116	P>S		No	ClinGen TOPMed gnomAD
rs928539621 CA290443425	1118	V>I		No	ClinGen TOPMed
CA399312651 rs1296659440	1119	P>L		No	ClinGen TOPMed
rs1367219861 CA399312668	1121	P>R		No	ClinGen TOPMed
rs757332075 CA8534528	1123	E>K		No	ClinGen ExAC gnomAD
CA8534527 rs757332075	1123	E>Q		No	ClinGen ExAC gnomAD
RCV001058118 rs148211805 CA8534529	1125	D>E		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA8534532 COSM3378169 rs747888253	1128	V>I	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs556924554 CA290443497	1129	A>P		No	ClinGen Ensembl
rs1300276675 CA399312768	1132	T>I		No	ClinGen gnomAD
rs1300276675 CA399312767	1132	T>S		No	ClinGen gnomAD
CA399312772 rs1371638608	1133	C>Y		No	ClinGen gnomAD
rs1166464063 CA399312778	1134	S>G		No	ClinGen TOPMed
rs1424970907 CA399312783	1134	S>R		No	ClinGen TOPMed
CA8534535 rs150165942	1135	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746595697 CA8534536	1136	Q>*		No	ClinGen ExAC gnomAD
rs1357502140 CA399312793	1136	Q>R		No	ClinGen gnomAD
CA399312802 rs1229072211	1137	P>L		No	ClinGen gnomAD
rs775877222 CA8534558	1140	V>M		No	ClinGen ExAC gnomAD
CA290443703 rs146177313	1141	N>K		No	ClinGen ESP TOPMed gnomAD
CA158656 RCV000120752 rs587778269	1143	P>L		No	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000120751 CA158649 rs587778268	1143	P>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs138611862 CA8534559	1144	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399312855 rs138611862	1144	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767717383 CA8534561	1146	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs762062043 CA8534560	1146	R>W		No	ClinGen ExAC TOPMed gnomAD
rs562773948 CA290443774	1150	P>A		No	ClinGen 1000Genomes
rs1357550606 CA399312903	1151	S>L		No	ClinGen gnomAD
COSM1659147 CA399312911 rs1364766454	1153	R>*	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA399312913 rs758365405	1153	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8534566 rs758365405	1153	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs751372943 CA8534568	1155	G>C		No	ClinGen ExAC gnomAD
rs751372943 CA399312923	1155	G>R		No	ClinGen ExAC gnomAD
rs751372943 CA290443830	1155	G>S		No	ClinGen ExAC gnomAD
CA399312930 rs1429281392	1155	G>V		No	ClinGen gnomAD
rs757037466 CA8534569	1157	L>R		No	ClinGen ExAC TOPMed gnomAD
CA399312985 rs1299958872	1158	P>L		No	ClinGen gnomAD
rs1210088528 CA399313034	1161	R>*		No	ClinGen gnomAD
CA158684 RCV000120756 rs150680317	1161	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8534572 rs201482456	1162	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs959969530 CA290443850	1163	A>T		No	ClinGen TOPMed gnomAD
CA399313094 rs1248880121	1164	G>D		No	ClinGen gnomAD
rs866086063 CA290443856	1166	T>A		No	ClinGen TOPMed
CA399313164 rs1423726828	1168	E>K		No	ClinGen gnomAD
CA399313173 rs1420911942	1169	R>G		No	ClinGen gnomAD
rs1058808 RCV000120753 VAR_016318 CA158663	1170	P>A		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1058808 CA399313203	1170	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1058808 CA399313199	1170	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1455904690 CA399313266	1173	L>F		No	ClinGen gnomAD
CA399313263 rs1455904690	1173	L>V		No	ClinGen gnomAD
rs1351450168 CA399313302	1174	S>F		No	ClinGen gnomAD
CA399313307 rs1437065997	1175	P>A		No	ClinGen gnomAD
rs1285998921 CA399313320	1175	P>L		No	ClinGen TOPMed
rs1365431216 CA399313337	1176	G>E		No	ClinGen gnomAD
CA8534576 rs772360944	1177	K>*		No	ClinGen ExAC
CA8534577 rs4252656	1177	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1302671977 CA399313383	1178	N>S		No	ClinGen TOPMed
CA8534581 rs776754071	1181	V>I		No	ClinGen ExAC TOPMed gnomAD
rs763027953 CA8534582	1182	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA8534583 rs764123297	1182	K>R		No	ClinGen ExAC gnomAD
CA8534585 rs761715861	1184	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1597892828 CA399313554	1186	A>T		No	ClinGen Ensembl
CA399313615 rs1411396765	1188	G>V		No	ClinGen gnomAD
rs926640472 CA290443973	1189	G>S		No	ClinGen gnomAD
rs936702639 CA290443974	1190	A>T		No	ClinGen Ensembl
CA399313658 rs1167419546	1191	V>M		No	ClinGen gnomAD
rs182815010 CA290443982	1192	E>*		No	ClinGen Ensembl
rs1405687941 CA399313739	1194	P>S		No	ClinGen TOPMed gnomAD
CA399313735 rs1405687941	1194	P>T		No	ClinGen TOPMed gnomAD
rs1347979949 CA399313771	1195	E>G		No	ClinGen gnomAD
CA290444001 rs867850628	1195	E>K		No	ClinGen TOPMed
CA399313845 rs779469693	1199	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8534589 COSM2152173 rs779469693	1199	P>T	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1308088661 CA399313903	1202	G>R		No	ClinGen gnomAD
rs373605104 CA290444020	1204	A>G		No	ClinGen ESP TOPMed gnomAD
CA8534590 rs753337412	1204	A>T		No	ClinGen ExAC gnomAD
CA8534592 rs201353217	1205	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
RCV001854611 rs145772320 CA158670 RCV000120754	1207	P>L		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA399314054 rs1597892991	1208	H>P		No	ClinGen Ensembl
CA399314147 rs1206558778	1212	A>G		No	ClinGen gnomAD
RCV000120755 CA158677 rs55943169 VAR_042100	1216	A>D		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs747245215 CA8534594	1217	F>L		No	ClinGen ExAC TOPMed gnomAD
COSM186272 rs889372358 CA290444051	1219	N>S	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs568793816 CA8534596	1221	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1383206442 CA399314449	1224	D>E		No	ClinGen gnomAD
rs539683889 CA8534598	1226	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs890921240 CA290444070	1227	P>L		No	ClinGen TOPMed
CA158691 RCV000120757 rs372043866 RCV001854612	1230	R>L		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA8534601 rs372043866	1230	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8534602 rs372043866	1230	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8534599 rs769940977	1230	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1018067615 CA290444087	1232	A>T		No	ClinGen TOPMed gnomAD
rs1427201404 CA399314630	1233	P>L		No	ClinGen gnomAD
CA399314648 rs1567917497	1235	S>G		No	ClinGen Ensembl
CA399314654 rs1335633462	1235	S>I		No	ClinGen TOPMed gnomAD
rs1335633462 CA399314660	1235	S>N		No	ClinGen TOPMed gnomAD
CA290444093 rs4252657	1235	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8534604 rs750197828	1236	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1363596416 CA399314736	1238	K>N		No	ClinGen TOPMed
rs1434968779 CA399314729	1238	K>R		No	ClinGen TOPMed
rs760307857 CA8534605	1239	G>E		No	ClinGen ExAC gnomAD
rs766037507 CA8534606	1240	T>P		No	ClinGen ExAC gnomAD
rs141494080 CA8534608	1241	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8534607 rs753431083	1241	P>S		No	ClinGen ExAC gnomAD
CA8534609 rs778352367	1242	T>M		No	ClinGen ExAC TOPMed gnomAD
rs144533600 CA8534611	1244	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399314872 rs1442037966	1245	N>I		No	ClinGen gnomAD
CA8534612 rs375408471	1246	P>L		No	ClinGen ESP ExAC TOPMed
rs1185738894 CA399314888	1246	P>S		No	ClinGen gnomAD
rs1185738894 CA399314883	1246	P>T		No	ClinGen gnomAD
rs771116500 CA8534615	1248	Y>C		No	ClinGen ExAC gnomAD
CA399314959 rs1389410789	1250	G>D		No	ClinGen gnomAD
CA8534618 rs184203026	1252	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs36085723 CA399314975	1253	V>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs36085723 CA290444231	1253	V>M		No	ClinGen 1000Genomes TOPMed gnomAD
rs772934121 CA8534622	1255	V>A		No	ClinGen ExAC gnomAD
CA8534621 rs755744500	1255	V>L		No	ClinGen ExAC TOPMed gnomAD

6 associated diseases with P04626

[MIM: 137800]: Glioma (GLM)

Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. {ECO:0000269|PubMed:15457249}. Note=The gene represented in this entry is involved in disease pathogenesis.

[MIM: 167000]: Ovarian cancer (OC)

The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. {ECO:0000269|PubMed:15457249, ECO:0000269|PubMed:17344846}. Note=The gene represented in this entry is involved in disease pathogenesis.

[MIM: 211980]: Lung cancer (LNCR)

A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes

[MIM: 613659]: Gastric cancer (GASC)

A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease. {ECO:0000269|PubMed:15457249, ECO:0000269|PubMed:17344846}. Note=The protein represented in this entry is involved in disease pathogenesis.

[MIM: 619465]: Visceral neuropathy, familial, 2, autosomal recessive (VSCN2)

An autosomal recessive disorder characterized by intestinal dysmotility due to aganglionosis (Hirschsprung disease), hypoganglionosis, and/or chronic intestinal pseudoobstruction. Patients also show peripheral axonal neuropathy, hypotonia, mild developmental delay, unilateral ptosis, and sensorineural hearing loss. {ECO:0000269|PubMed:33497358}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. {ECO:0000269|PubMed:15457249}. Note=The gene represented in this entry is involved in disease pathogenesis.
The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. {ECO:0000269|PubMed:15457249, ECO:0000269|PubMed:17344846}. Note=The gene represented in this entry is involved in disease pathogenesis.
A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes
A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease. {ECO:0000269|PubMed:15457249, ECO:0000269|PubMed:17344846}. Note=The protein represented in this entry is involved in disease pathogenesis.
An autosomal recessive disorder characterized by intestinal dysmotility due to aganglionosis (Hirschsprung disease), hypoganglionosis, and/or chronic intestinal pseudoobstruction. Patients also show peripheral axonal neuropathy, hypotonia, mild developmental delay, unilateral ptosis, and sensorineural hearing loss. {ECO:0000269|PubMed:33497358}. Note=The disease is caused by variants affecting the gene represented in this entry.

12 regional properties for P04626

Type	Name	Position	InterPro Accession
domain	Receptor L-domain	52 - 172	IPR000494-1
domain	Receptor L-domain	366 - 484	IPR000494-2
domain	Protein kinase domain	720 - 987	IPR000719
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	722 - 975	IPR001245
domain	Furin-like cysteine-rich domain	190 - 343	IPR006211
repeat	Furin-like repeat	232 - 280	IPR006212-1
repeat	Furin-like repeat	501 - 552	IPR006212-2
repeat	Furin-like repeat	557 - 607	IPR006212-3
active_site	Tyrosine-protein kinase, active site	841 - 853	IPR008266
binding_site	Protein kinase, ATP binding site	726 - 753	IPR017441
domain	Tyrosine-protein kinase, catalytic domain	720 - 976	IPR020635
domain	Growth factor receptor domain 4	511 - 642	IPR032778

Functions

		Description
EC Number	2.7.10.1	Protein-tyrosine kinases
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein Cell projection, ruffle membrane ; Single-pass type I membrane protein	Internalized from the cell membrane in response to EGF stimulation
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

14 GO annotations of cellular component

Name	Definition
apical plasma membrane	The region of the plasma membrane located at the apical end of the cell.
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.
basolateral plasma membrane	The region of the plasma membrane that includes the basal end and sides 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.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
early endosome	A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways.
endosome membrane	The lipid bilayer surrounding an endosome.
ERBB3:ERBB2 complex	A heterodimeric complex between the tyrosine kinase receptor ERBB2 and a ligand-activated receptor ERBB3. ERBB2, which does not bind any known ligand, is activated through formation of a heterodimer with another ligand-activated ERBB family member such as ERBB3.
integral component of membrane	The component of a 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.
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.
myelin sheath	An electrically insulating fatty layer that surrounds the axons of many neurons. It is an outgrowth of glial cells: Schwann cells supply the myelin for peripheral neurons while oligodendrocytes supply it to those of the central nervous system.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
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.

11 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ErbB-3 class receptor binding	Binding to the protein-tyrosine kinase receptor ErbB-3/HER3.
identical protein binding	Binding to an identical protein or proteins.
protein C-terminus binding	Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue.
protein heterodimerization activity	Binding to a nonidentical protein to form a heterodimer.
protein phosphatase binding	Binding to a protein phosphatase.
protein serine/threonine/tyrosine kinase activity	Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
protein tyrosine kinase activity	Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
RNA polymerase I core binding	Binding to a RNA polymerase I core enzyme, a multisubunit eukaryotic nuclear RNA polymerase typically composed of seventeen subunits.
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.
transmembrane signaling receptor activity	Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction.

35 GO annotations of biological process

Name	Definition
cell surface receptor signaling pathway	The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
cellular response to epidermal growth factor stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an epidermal growth factor stimulus.
cellular response to growth factor stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a growth factor stimulus.
enzyme linked receptor protein 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 catalytic activity or is closely associated with an enzyme such as a protein kinase, and ending with the regulation of a downstream cellular process, e.g. transcription.
heart development	The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
motor neuron axon guidance	The process in which the migration of an axon growth cone of a motor neuron is directed to a specific target site in response to a combination of attractive and repulsive cues.
myelination	The process in which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier.
negative regulation of immature T cell proliferation in thymus	Any process that stops, prevents, or reduces the frequency, rate or extent of immature T cell proliferation in the thymus.
neuromuscular junction development	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a neuromuscular junction.
neuron differentiation	The process in which a relatively unspecialized cell acquires specialized features of a neuron.
oligodendrocyte differentiation	The process in which a relatively unspecialized cell acquires the specialized features of an oligodendrocyte. An oligodendrocyte is a type of glial cell involved in myelinating the axons of neurons in the central nervous system.
peptidyl-tyrosine phosphorylation	The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine.
peripheral nervous system development	The process whose specific outcome is the progression of the peripheral nervous system over time, from its formation to the mature structure. The peripheral nervous system is one of the two major divisions of the nervous system. Nerves in the PNS connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands.
phosphatidylinositol 3-kinase signaling	A series of reactions within the signal-receiving cell, mediated by the intracellular phosphatidylinositol 3-kinase (PI3K). Many cell surface receptor linked signaling pathways signal through PI3K to regulate numerous cellular functions.
positive regulation of cell adhesion	Any process that activates or increases the frequency, rate or extent of cell adhesion.
positive regulation of cell growth	Any process that activates or increases the frequency, rate, extent or direction of cell growth.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of epithelial cell proliferation	Any process that activates or increases the rate or extent of epithelial cell proliferation.
positive regulation of GTPase activity	Any process that activates or increases the activity of a GTPase.
positive regulation of kinase activity	Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.
positive regulation of MAP kinase activity	Any process that activates or increases the frequency, rate or extent of MAP kinase activity.
positive regulation of MAPK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of protein phosphorylation	Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.
positive regulation of protein targeting to membrane	Any process that increases the frequency, rate or extent of the process of directing proteins towards a membrane, usually using signals contained within the protein.
positive regulation of transcription by RNA polymerase I	Any process that activates or increases the frequency, rate or extent of transcription mediated by RNA polymerase I.
positive regulation of translation	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.
protein autophosphorylation	The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation).
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of angiogenesis	Any process that modulates the frequency, rate or extent of angiogenesis.
regulation of ERK1 and ERK2 cascade	Any process that modulates the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
regulation of microtubule-based process	Any process that modulates the frequency, rate or extent of any cellular process that depends upon or alters the microtubule cytoskeleton.
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.
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.
wound healing	The series of events that restore integrity to a damaged tissue, following an injury.

60 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P13387	EGFR	Epidermal growth factor receptor	Gallus gallus (Chicken)	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
Q04912	MST1R	Macrophage-stimulating protein receptor	Homo sapiens (Human)	EV
P30530	AXL	Tyrosine-protein kinase receptor UFO	Homo sapiens (Human)	PR
Q06418	TYRO3	Tyrosine-protein kinase receptor TYRO3	Homo sapiens (Human)	SS
P08581	MET	Hepatocyte growth factor receptor	Homo sapiens (Human)	EV
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
Q01279	Egfr	Epidermal growth factor receptor	Mus musculus (Mouse)	SS
Q61526	Erbb3	Receptor tyrosine-protein kinase erbB-3	Mus musculus (Mouse)	SS
Q61527	Erbb4	Receptor tyrosine-protein kinase erbB-4	Mus musculus (Mouse)	SS
P70424	Erbb2	Receptor tyrosine-protein kinase erbB-2	Mus musculus (Mouse)	SS
Q62799	Erbb3	Receptor tyrosine-protein kinase erbB-3	Rattus norvegicus (Rat)	SS
Q62956	Erbb4	Receptor tyrosine-protein kinase erbB-4	Rattus norvegicus (Rat)	SS
P06494	Erbb2	Receptor tyrosine-protein kinase erbB-2	Rattus norvegicus (Rat)	SS
P55245	EGFR	Epidermal growth factor receptor	Macaca mulatta (Rhesus macaque)	SS
O16262	nipi-4	Protein nipi-4	Caenorhabditis elegans	PR
Q8VYA3	WAKL10	Wall-associated receptor kinase-like 10	Arabidopsis thaliana (Mouse-ear cress)	PR
Q7X8C5	WAKL2	Wall-associated receptor kinase-like 2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9S9M2	WAKL4	Wall-associated receptor kinase-like 4	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9C9L5	WAKL9	Wall-associated receptor kinase-like 9	Arabidopsis thaliana (Mouse-ear cress)	PR
Q0WNY5	WAKL18	Wall-associated receptor kinase-like 18	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9M092	WAKL17	Wall-associated receptor kinase-like 17	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LMN7	WAK5	Wall-associated receptor kinase 5	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LSV3	WAKL16	Putative wall-associated receptor kinase-like 16	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9M342	WAKL15	Wall-associated receptor kinase-like 15	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MELAALCRWG	LLLALLPPGA	ASTQVCTGTD	MKLRLPASPE	THLDMLRHLY	QGCQVVQGNL
70	80	90	100	110	120
ELTYLPTNAS	LSFLQDIQEV	QGYVLIAHNQ	VRQVPLQRLR	IVRGTQLFED	NYALAVLDNG
130	140	150	160	170	180
DPLNNTTPVT	GASPGGLREL	QLRSLTEILK	GGVLIQRNPQ	LCYQDTILWK	DIFHKNNQLA
190	200	210	220	230	240
LTLIDTNRSR	ACHPCSPMCK	GSRCWGESSE	DCQSLTRTVC	AGGCARCKGP	LPTDCCHEQC
250	260	270	280	290	300
AAGCTGPKHS	DCLACLHFNH	SGICELHCPA	LVTYNTDTFE	SMPNPEGRYT	FGASCVTACP
310	320	330	340	350	360
YNYLSTDVGS	CTLVCPLHNQ	EVTAEDGTQR	CEKCSKPCAR	VCYGLGMEHL	REVRAVTSAN
370	380	390	400	410	420
IQEFAGCKKI	FGSLAFLPES	FDGDPASNTA	PLQPEQLQVF	ETLEEITGYL	YISAWPDSLP
430	440	450	460	470	480
DLSVFQNLQV	IRGRILHNGA	YSLTLQGLGI	SWLGLRSLRE	LGSGLALIHH	NTHLCFVHTV
490	500	510	520	530	540
PWDQLFRNPH	QALLHTANRP	EDECVGEGLA	CHQLCARGHC	WGPGPTQCVN	CSQFLRGQEC
550	560	570	580	590	600
VEECRVLQGL	PREYVNARHC	LPCHPECQPQ	NGSVTCFGPE	ADQCVACAHY	KDPPFCVARC
610	620	630	640	650	660
PSGVKPDLSY	MPIWKFPDEE	GACQPCPINC	THSCVDLDDK	GCPAEQRASP	LTSIISAVVG
670	680	690	700	710	720
ILLVVVLGVV	FGILIKRRQQ	KIRKYTMRRL	LQETELVEPL	TPSGAMPNQA	QMRILKETEL
730	740	750	760	770	780
RKVKVLGSGA	FGTVYKGIWI	PDGENVKIPV	AIKVLRENTS	PKANKEILDE	AYVMAGVGSP
790	800	810	820	830	840
YVSRLLGICL	TSTVQLVTQL	MPYGCLLDHV	RENRGRLGSQ	DLLNWCMQIA	KGMSYLEDVR
850	860	870	880	890	900
LVHRDLAARN	VLVKSPNHVK	ITDFGLARLL	DIDETEYHAD	GGKVPIKWMA	LESILRRRFT
910	920	930	940	950	960
HQSDVWSYGV	TVWELMTFGA	KPYDGIPARE	IPDLLEKGER	LPQPPICTID	VYMIMVKCWM
970	980	990	1000	1010	1020
IDSECRPRFR	ELVSEFSRMA	RDPQRFVVIQ	NEDLGPASPL	DSTFYRSLLE	DDDMGDLVDA
1030	1040	1050	1060	1070	1080
EEYLVPQQGF	FCPDPAPGAG	GMVHHRHRSS	STRSGGGDLT	LGLEPSEEEA	PRSPLAPSEG
1090	1100	1110	1120	1130	1140
AGSDVFDGDL	GMGAAKGLQS	LPTHDPSPLQ	RYSEDPTVPL	PSETDGYVAP	LTCSPQPEYV
1150	1160	1170	1180	1190	1200
NQPDVRPQPP	SPREGPLPAA	RPAGATLERP	KTLSPGKNGV	VKDVFAFGGA	VENPEYLTPQ
1210	1220	1230	1240	1250
GGAAPQPHPP	PAFSPAFDNL	YYWDQDPPER	GAPPSTFKGT	PTAENPEYLG	LDVPV