AiPD: Autoinhibited Protein Database

P00533

Gene name	EGFR
Protein name	Epidermal growth factor receptor
Names	Proto-oncogene c-ErbB-1, Receptor tyrosine-protein kinase erbB-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1956
EC number	2.7.10.1: Protein-tyrosine kinases
Protein Class	TYROSINE-PROTEIN KINASE RECEPTOR (PTHR24416)

Descriptions

Epidermal growth factor receptor plays critical roles in regulating cell proliferation, differentiation, and migration. The extracellular region of the EGF receptor contains four subdomains (domains I, II, III, and IV). Self-association of EGFR is autoinhibited by intramolecular interaction between domain II and IV, which sequesters the dimerization arm within domain II. Glycosylation of an Asn residue in domain IV induces autoinhibition while its mutation disrupts autoinhibition. Glycosylations of Asn residues within domain II reduce autoinhibition.

Autoinhibitory domains (AIDs)

Target domain	166-309 (Domain II)
Relief mechanism	Partner binding, PTM
Assay	Deletion assay, Mutagenesis experiment, Structural analysis

AID

482-618 (Domain IV)

Target domain

166-309 (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

Deletion assay, Mutagenesis experiment, Structural analysis

Accessory elements

854-879 (Activation loop from InterPro)

Target domain	712-979 (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

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

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

Kovacs E et al. (2015) "Analysis of the Role of the C-Terminal Tail in the Regulation of the Epidermal Growth Factor Receptor", Molecular and cellular biology, 35, 3083-102

Autoinhibited structure

Activated structure

306 structures for P00533

Entry ID	Method	Resolution	Chain	Position	Source
1IVO	X-ray	330 A	A/B	25-646	PDB
1M14	X-ray	260 A	A	695-1022	PDB
1M17	X-ray	260 A	A	695-1022	PDB
1MOX	X-ray	250 A	A/B	25-525	PDB
1NQL	X-ray	280 A	A	25-642	PDB
1XKK	X-ray	240 A	A	695-1022	PDB
1YY9	X-ray	260 A	A	25-642	PDB
1Z9I	NMR	-	A	669-721	PDB
2EB2	X-ray	250 A	A	695-1022	PDB
2EB3	X-ray	284 A	A	695-1022	PDB
2GS2	X-ray	280 A	A	696-1022	PDB
2GS6	X-ray	260 A	A	696-1022	PDB
2GS7	X-ray	260 A	A/B	696-1022	PDB
2ITN	X-ray	247 A	A	696-1022	PDB
2ITO	X-ray	325 A	A	696-1022	PDB
2ITP	X-ray	274 A	A	696-1022	PDB
2ITQ	X-ray	268 A	A	696-1022	PDB
2ITT	X-ray	273 A	A	696-1022	PDB
2ITU	X-ray	280 A	A	696-1022	PDB
2ITV	X-ray	247 A	A	696-1022	PDB
2ITW	X-ray	288 A	A	696-1022	PDB
2ITX	X-ray	298 A	A	696-1022	PDB
2ITY	X-ray	342 A	A	696-1022	PDB
2ITZ	X-ray	272 A	A	696-1022	PDB
2J5E	X-ray	310 A	A	696-1022	PDB
2J5F	X-ray	300 A	A	696-1022	PDB
2J6M	X-ray	310 A	A	696-1022	PDB
2JIT	X-ray	310 A	A/B	696-1022	PDB
2JIU	X-ray	305 A	A/B	695-1022	PDB
2JIV	X-ray	350 A	A/B	695-1022	PDB
2KS1	NMR	-	B	634-677	PDB
2M0B	NMR	-	A/B	634-677	PDB
2M20	NMR	-	A/B	642-697	PDB
2N5S	NMR	-	A	642-690	PDB
2RF9	X-ray	350 A	A/B	696-1022	PDB
2RFD	X-ray	360 A	A/B	702-1022	PDB
2RFE	X-ray	290 A	A/B/C/D	702-1022	PDB
2RGP	X-ray	200 A	A	702-1016	PDB
3B2U	X-ray	258 A	A/B/E/I/M/P/S/V	335-538	PDB
3B2V	X-ray	330 A	A	25-642	PDB
3BEL	X-ray	230 A	A	702-1016	PDB
3BUO	X-ray	260 A	A/C	1063-1075	PDB
3C09	X-ray	320 A	A/D	336-538	PDB
3G5V	X-ray	200 A	C	311-326	PDB
3G5Y	X-ray	159 A	E	311-326	PDB
3GOP	X-ray	280 A	A	669-1022	PDB
3GT8	X-ray	296 A	A/B/C/D	696-1022	PDB
3IKA	X-ray	290 A	A/B	694-1022	PDB
3LZB	X-ray	270 A	A/B/C/D/E/F/G/H	696-983	PDB
3NJP	X-ray	330 A	A/B	25-638	PDB
3OB2	X-ray	210 A	A	1063-1074	PDB
3OP0	X-ray	252 A	C/D	1066-1076	PDB
3P0Y	X-ray	180 A	A	334-538	PDB
3PFV	X-ray	227 A	C/D	1066-1076	PDB
3POZ	X-ray	150 A	A	696-1022	PDB
3QWQ	X-ray	275 A	A	1-642	PDB
3UG1	X-ray	275 A	A	695-1022	PDB
3UG2	X-ray	250 A	A	695-1022	PDB
3VJN	X-ray	234 A	A	695-1022	PDB
3VJO	X-ray	264 A	A	695-1022	PDB
3VRP	X-ray	152 A	B	1062-1074	PDB
3VRR	X-ray	200 A	C	1062-1074	PDB
3W2O	X-ray	235 A	A	698-1022	PDB
3W2P	X-ray	205 A	A	698-1022	PDB
3W2Q	X-ray	220 A	A	698-1022	PDB
3W2R	X-ray	205 A	A	698-1022	PDB
3W2S	X-ray	190 A	A	696-1022	PDB
3W32	X-ray	180 A	A	696-1022	PDB
3W33	X-ray	170 A	A	696-1022	PDB
4G5J	X-ray	280 A	A	696-1022	PDB
4G5P	X-ray	317 A	A/B	696-1022	PDB
4HJO	X-ray	275 A	A	696-1022	PDB
4I1Z	X-ray	300 A	A	695-1022	PDB
4I20	X-ray	334 A	A	695-1022	PDB
4I21	X-ray	337 A	A/B	695-1022	PDB
4I22	X-ray	171 A	A	695-1022	PDB
4I23	X-ray	280 A	A	695-1022	PDB
4I24	X-ray	180 A	A/B	695-1022	PDB
4JQ7	X-ray	273 A	A	696-1021	PDB
4JQ8	X-ray	283 A	A	696-1021	PDB
4JR3	X-ray	270 A	A	696-1021	PDB
4JRV	X-ray	280 A	A	696-1021	PDB
4KRL	X-ray	285 A	A	335-538	PDB
4KRM	X-ray	266 A	A/C/E/G/I/K	335-538	PDB
4KRO	X-ray	305 A	A	25-642	PDB
4KRP	X-ray	282 A	A	25-642	PDB
4LI5	X-ray	264 A	A	696-1020	PDB
4LL0	X-ray	400 A	A/B	694-1022	PDB
4LQM	X-ray	250 A	A	694-1022	PDB
4LRM	X-ray	353 A	A/B/C/D/E	694-1022	PDB
4R3P	X-ray	290 A	A	696-1018	PDB
4R3R	X-ray	325 A	A	696-1018	PDB
4R5S	X-ray	300 A	A	696-1022	PDB
4RIW	X-ray	310 A	B/D	682-1022	PDB
4RIX	X-ray	310 A	B/D	682-1022	PDB
4RIY	X-ray	298 A	B/D	682-1022	PDB
4RJ4	X-ray	278 A	A	695-1022	PDB
4RJ5	X-ray	310 A	A	695-1022	PDB
4RJ6	X-ray	270 A	A	695-1022	PDB
4RJ7	X-ray	255 A	A	695-1022	PDB
4RJ8	X-ray	250 A	A	695-1022	PDB
4TKS	X-ray	320 A	A	695-1022	PDB
4UIP	X-ray	295 A	A	26-637	PDB
4UV7	X-ray	210 A	A	25-645	PDB
4WD5	X-ray	330 A	A/B	694-1022	PDB
4WKQ	X-ray	185 A	A	696-1022	PDB
4WRG	X-ray	190 A	A	696-1022	PDB
4ZAU	X-ray	280 A	A	696-1022	PDB
4ZJV	X-ray	270 A	A/B	695-1022	PDB
4ZSE	X-ray	197 A	A/B/C/D	695-1022	PDB
5C8K	X-ray	300 A	A	695-1022	PDB
5C8M	X-ray	290 A	A	695-1022	PDB
5C8N	X-ray	240 A	A	695-1022	PDB
5CAL	X-ray	270 A	A	695-1022	PDB
5CAN	X-ray	280 A	A	695-1022	PDB
5CAO	X-ray	260 A	A	695-1022	PDB
5CAP	X-ray	240 A	A	695-1022	PDB
5CAQ	X-ray	250 A	A	695-1022	PDB
5CAS	X-ray	210 A	A	695-1022	PDB
5CAU	X-ray	225 A	A	695-1022	PDB
5CAV	X-ray	273 A	A	695-1022	PDB
5CNN	X-ray	190 A	A/B	696-1042	PDB
5CNO	X-ray	155 A	A/B/X	696-1022	PDB
5CZH	X-ray	280 A	A	694-1022	PDB
5CZI	X-ray	260 A	A	694-1022	PDB
5D41	X-ray	231 A	A/B	695-1022	PDB
5EDP	X-ray	290 A	A	695-1022	PDB
5EDQ	X-ray	280 A	A	695-1022	PDB
5EDR	X-ray	260 A	A	695-1022	PDB
5EM5	X-ray	265 A	A	695-1022	PDB
5EM6	X-ray	278 A	A	695-1022	PDB
5EM7	X-ray	281 A	A	695-1022	PDB
5EM8	X-ray	280 A	A	695-1022	PDB
5FED	X-ray	265 A	A	696-1022	PDB
5FEE	X-ray	270 A	A	696-1022	PDB
5FEQ	X-ray	340 A	A	696-1022	PDB
5GMP	X-ray	280 A	A	696-1022	PDB
5GNK	X-ray	180 A	A	696-988	PDB
5GTY	X-ray	314 A	A/B/C/D/E/F/G/H	696-1022	PDB
5GTZ	X-ray	300 A	A	696-1022	PDB
5HCX	X-ray	260 A	A	696-1022	PDB
5HCY	X-ray	246 A	A	696-1022	PDB
5HCZ	X-ray	262 A	A	696-1022	PDB
5HG5	X-ray	152 A	A	695-1022	PDB
5HG7	X-ray	185 A	A	695-1022	PDB
5HG8	X-ray	142 A	A	695-1022	PDB
5HG9	X-ray	215 A	A	695-1022	PDB
5HIB	X-ray	285 A	A	695-1022	PDB
5HIC	X-ray	260 A	A	695-1022	PDB
5J9Y	X-ray	280 A	A	697-1019	PDB
5J9Z	X-ray	250 A	A	696-1020	PDB
5JEB	X-ray	330 A	A	696-1022	PDB
5LV6	NMR	-	A/B	634-677	PDB
5SX4	X-ray	280 A	M/N	335-525	PDB
5SX5	X-ray	250 A	M/N	335-525	PDB
5U8L	X-ray	160 A	A	695-1022	PDB
5UG8	X-ray	146 A	A	695-1022	PDB
5UG9	X-ray	133 A	A	695-1022	PDB
5UGA	X-ray	182 A	A	695-1022	PDB
5UGB	X-ray	253 A	A	695-1022	PDB
5UGC	X-ray	158 A	A	695-1022	PDB
5UWD	X-ray	306 A	A	695-1022	PDB
5WB7	X-ray	294 A	A/B/C/D	25-525	PDB
5WB8	X-ray	300 A	A/D	25-525	PDB
5X26	X-ray	295 A	A	696-1022	PDB
5X27	X-ray	295 A	A	696-1022	PDB
5X28	X-ray	295 A	A	696-1022	PDB
5X2A	X-ray	185 A	A/B/C/D	696-1022	PDB
5X2C	X-ray	205 A	A/B	696-1022	PDB
5X2F	X-ray	220 A	A/B/C/D	696-1022	PDB
5X2K	X-ray	320 A	A	696-1022	PDB
5XDK	X-ray	235 A	A	696-1022	PDB
5XDL	X-ray	270 A	A	696-1022	PDB
5XGM	X-ray	295 A	A	696-1022	PDB
5XGN	X-ray	300 A	A/B	696-1022	PDB
5XWD	X-ray	289 A	A	1-643	PDB
5Y25	X-ray	310 A	A	698-1022	PDB
5Y9T	X-ray	325 A	A	695-1022	PDB
5YU9	X-ray	195 A	A/B/C/D	696-1022	PDB
5ZTO	X-ray	265 A	A	696-1022	PDB
5ZWJ	X-ray	290 A	A	675-1022	PDB
6ARU	X-ray	320 A	A	25-640	PDB
6B3S	X-ray	280 A	A/B/E/I	335-538	PDB
6D8E	X-ray	254 A	A	696-1022	PDB
6DUK	X-ray	220 A	A/B/C/D/E/F	695-1022	PDB
6JRJ	X-ray	294 A	A	696-1022	PDB
6JRK	X-ray	280 A	A	696-1022	PDB
6JRX	X-ray	220 A	A	696-1022	PDB
6JWL	X-ray	255 A	A	696-1022	PDB
6JX0	X-ray	253 A	A	696-1022	PDB
6JX4	X-ray	253 A	A	696-1022	PDB
6JXT	X-ray	231 A	A	696-1022	PDB
6JZ0	X-ray	286 A	A	696-1021	PDB
6LUB	X-ray	231 A	A	695-1022	PDB
6LUD	X-ray	205 A	A	695-1022	PDB
6P1D	X-ray	240 A	A/B/C/D	696-1022	PDB
6P1L	X-ray	280 A	A/B/C/D	696-1022	PDB
6P8Q	X-ray	190 A	A/B/C/D	696-1022	PDB
6S89	X-ray	270 A	A	695-1022	PDB
6S8A	X-ray	260 A	A	695-1022	PDB
6S9B	X-ray	325 A	A	697-1022	PDB
6S9C	X-ray	273 A	A	696-1022	PDB
6S9D	X-ray	267 A	A	696-1022	PDB
6TFU	X-ray	200 A	A/B	695-1022	PDB
6TFV	X-ray	150 A	A/B	695-1022	PDB
6TFW	X-ray	200 A	A/B	695-1022	PDB
6TFY	X-ray	170 A	A/B	695-1022	PDB
6TFZ	X-ray	180 A	A/B	695-1022	PDB
6TG0	X-ray	150 A	A/B	695-1022	PDB
6TG1	X-ray	160 A	A/B	695-1022	PDB
6V5N	X-ray	240 A	A/B/C/D	695-1022	PDB
6V5P	X-ray	230 A	A/B/C/D	695-1022	PDB
6V66	X-ray	179 A	A/B/C/D	696-1022	PDB
6V6K	X-ray	220 A	A/B/C/D/E/F/G/H	696-1022	PDB
6V6O	X-ray	210 A	A/B/C/D/E/F/G/H	696-1022	PDB
6VH4	X-ray	280 A	A	696-1022	PDB
6VHN	X-ray	240 A	A	696-1022	PDB
6VHP	X-ray	360 A	A	696-1022	PDB
6WA2	X-ray	240 A	A/B/C/D	695-1022	PDB
6WAK	X-ray	240 A	A/B/C/D	695-1022	PDB
6WXN	X-ray	176 A	A/B/C/D	695-1022	PDB
6XL4	X-ray	206 A	A/B/C/D	695-1022	PDB
6Z4B	X-ray	250 A	A/B	695-1022	PDB
6Z4D	X-ray	200 A	A/B	695-1022	PDB
7A2A	X-ray	190 A	A/B	695-1022	PDB
7A6I	X-ray	240 A	A	695-1022	PDB
7A6J	X-ray	200 A	A/B	695-1022	PDB
7A6K	X-ray	200 A	A/B/C/D	695-1022	PDB
7AEI	X-ray	265 A	A	695-1022	PDB
7AEM	X-ray	265 A	A	695-1022	PDB
7B85	X-ray	250 A	A	695-1022	PDB
7ER2	X-ray	266 A	A	696-1022	PDB
7JXI	X-ray	300 A	A/B/C/D	695-1022	PDB
7JXK	X-ray	310 A	A/B/C/D/E/F	695-1022	PDB
7JXL	X-ray	240 A	A/B/C/D	695-1022	PDB
7JXM	X-ray	219 A	A/B/C/D	695-1022	PDB
7JXP	X-ray	216 A	A/B/C/D/E/F	695-1022	PDB
7JXQ	X-ray	183 A	A/B/C/D	695-1022	PDB
7JXW	X-ray	250 A	A/B/C/D	695-1022	PDB
7K1H	X-ray	260 A	A/B/C/D/E/F	695-1022	PDB
7K1I	X-ray	320 A	A	695-1022	PDB
7KXZ	X-ray	240 A	A	695-1022	PDB
7KY0	X-ray	310 A	A/B/C/D	695-1022	PDB
7LEN	X-ray	290 A	A/B	25-525	PDB
7LFR	X-ray	320 A	A/B	25-525	PDB
7LFS	X-ray	350 A	A/B/C/D	25-525	PDB
7LG8	X-ray	293 A	A/B/C/D	695-1022	PDB
7LGS	X-ray	310 A	A/B/C/D	696-1022	PDB
7LTX	X-ray	230 A	A/B/C/D	695-1022	PDB
7OM4	X-ray	605 A	A	25-645	PDB
7OXB	X-ray	256 A	A	696-1020	PDB
7SI1	X-ray	160 A	A	695-1022	PDB
7SYD	EM	310 A	A/B	1-1210	PDB
7SYE	EM	330 A	A/B	1-1210	PDB
7SZ0	EM	330 A	A/B	1-1210	PDB
7SZ1	EM	340 A	A/B	1-1210	PDB
7SZ5	EM	360 A	A/B	1-1210	PDB
7SZ7	EM	340 A	A/B	1-1210	PDB
7T4I	X-ray	261 A	A	696-1022	PDB
7T4J	X-ray	220 A	A/B	696-1022	PDB
7TVD	X-ray	296 A	A	696-1022	PDB
7U98	X-ray	342 A	A/B/C/D	695-1022	PDB
7U99	X-ray	250 A	A	695-1022	PDB
7U9A	X-ray	260 A	A	695-1022	PDB
7UKV	X-ray	240 A	A	695-1022	PDB
7UKW	X-ray	260 A	A/B/C/D	695-1022	PDB
7VRA	X-ray	241 A	A	696-1022	PDB
7VRE	X-ray	251 A	A	696-1022	PDB
7ZYM	X-ray	250 A	A	695-1022	PDB
7ZYN	X-ray	230 A	A	695-1022	PDB
7ZYP	X-ray	280 A	A	695-1022	PDB
7ZYQ	X-ray	210 A	A/B	695-1022	PDB
8A27	X-ray	107 A	A	700-1022	PDB
8A2A	X-ray	143 A	A	700-1022	PDB
8A2B	X-ray	169 A	A	700-1022	PDB
8A2D	X-ray	111 A	A	700-1022	PDB
8D73	X-ray	217 A	A/B	695-1022	PDB
8D76	X-ray	240 A	A/B	695-1022	PDB
8DSW	X-ray	239 A	A	696-1022	PDB
8EME	X-ray	332 A	A/B	695-1022	PDB
8F1H	X-ray	280 A	A	695-1022	PDB
8F1W	X-ray	320 A	A/B/C/D	695-1022	PDB
8F1X	X-ray	230 A	A	695-1022	PDB
8F1Y	X-ray	275 A	A	695-1022	PDB
8F1Z	X-ray	240 A	A	695-1022	PDB
8FV3	X-ray	210 A	A/B/C/D	695-1022	PDB
8FV4	X-ray	220 A	A/B/C/D	695-1022	PDB
8G63	X-ray	250 A	A	696-1022	PDB
8H7X	X-ray	340 A	A/B	696-1022	PDB
8HGO	EM	331 A	A	1-683	PDB
8HGP	EM	453 A	A	1-683	PDB
8HGS	EM	381 A	A/B	1-683	PDB
8HV1	X-ray	240 A	A	695-1022	PDB
8HV2	X-ray	280 A	A	694-1022	PDB
8HV3	X-ray	240 A	A	695-1022	PDB
8HV4	X-ray	220 A	A	695-1022	PDB
8HV5	X-ray	220 A	A	695-1022	PDB
8HV6	X-ray	220 A	A	695-1022	PDB
8HV7	X-ray	269 A	A	695-1022	PDB
8HV8	X-ray	240 A	A	695-1022	PDB
8HV9	X-ray	250 A	A	695-1022	PDB
8HVA	X-ray	277 A	A	695-1022	PDB
8HY7	X-ray	291 A	A	695-1022	PDB
8TJL	X-ray	270 A	A	695-1022	PDB
8WD4	X-ray	255 A	A	696-1022	PDB
AF-P00533-F1	Predicted				AlphaFoldDB

1009 variants for P00533

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000709000 CA4265139 rs375919121	39	T>M	Hereditary cancer [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
RCV000424206 CA16602838 RCV000434481 RCV000440142 COSM1451537 rs1057519888 COSM1451536	108	R>G	Neoplasm of brain large_intestine Glioblastoma central_nervous_system [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM1559806 rs1057519828 COSM21683 RCV000432019 CA16602662	108	R>K	Neoplasm of brain central_nervous_system [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA4265184 rs773596817 RCV000709001	115	N>K	Hereditary cancer [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs921852102 RCV001858680 RCV000987875 CA367576746	184	L>P	EGFR-related lung cancer Lung carcinoma [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000709003 CA4265325 rs200664836	244	R>Q	Hereditary cancer [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA16602663 RCV000444169 COSM21684 rs1057519829	263	T>P	Neoplasm of brain central_nervous_system [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
RCV000709004 rs17336639 CA4265367	266	P>Q	Hereditary cancer [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000443311 COSM21685 CA16602834 RCV000427425 rs149840192 COSM2153688 RCV000434840	289	A>D	Squamous cell carcinoma of the head and neck Neoplasm of brain Glioblastoma central_nervous_system [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000435251 RCV000429429 rs1057519887 RCV000417429	289	A>I	Squamous cell carcinoma of the head and neck Neoplasm of brain Glioblastoma [ClinVar]	Yes	ClinVar dbSNP
RCV000437629 RCV000442544 rs1057519887 RCV000424975	289	A>N	Squamous cell carcinoma of the head and neck Neoplasm of brain Glioblastoma [ClinVar]	Yes	ClinVar dbSNP
RCV000422848 RCV000443246 COSM1559810 CA4265376 COSM21686 RCV000433672 rs769696078	289	A>T	Squamous cell carcinoma of the head and neck Neoplasm of brain Glioblastoma central_nervous_system [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
RCV000423404 CA16602664 COSM21687 RCV000423749 rs149840192 COSM1559811 RCV000439402	289	A>V	Squamous cell carcinoma of the head and neck Neoplasm of brain Glioblastoma central_nervous_system [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000256393 rs886037891 CA10586342	326	C>F	Cowden syndrome 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA4265432 RCV000677876 rs139429793 COSM1496685 COSM1496684	330	E>K	kidney Lung adenocarcinoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000120687 CA158432 RCV001854609 rs587778246	393	D>H	EGFR-related lung cancer [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001041577 rs1785445119	400	E>D	EGFR-related lung cancer [ClinVar]	Yes	ClinVar dbSNP
RCV000144851 CA170941 VAR_072435 rs606231253 RCV001849972	428	G>D	EGFR-related lung cancer Inflammatory skin and bowel disease, neonatal, 2 NISBD2; loss of function; the mutant does not localize to the cell membrane; has diffuse cytoplasmic localization [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
rs1584190119 RCV000987877 CA367579685	491	I>T	Lung carcinoma [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA16602560 RCV000429440 rs1057519760	492	S>G	Neoplasm of the large intestine [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1057519860 COSM236670 CA16602784 RCV000423834 COSM236671	492	S>R	large_intestine Neoplasm of the large intestine [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM1238072 rs1057519830 CA16602665 RCV000443890	546	P>S	upper_aerodigestive_tract Head and neck neoplasm [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA4265659 rs773651001 RCV001292731 RCV001863172	564	P>S	EGFR-related lung cancer Inflammatory skin and bowel disease, neonatal, 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA4265691 RCV000709005 rs144943614 COSM1251020 COSM1251021	592	V>I	Hereditary cancer oesophagus [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs139236063 RCV000440786 CA16602837 RCV000423114 COSM3412196 COSM3412197 RCV000429899	598	G>A	Neoplasm of brain Glioblastoma central_nervous_system [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
RCV000418494 COSM1187304 RCV000436167 CA4265696 rs139236063 COSM21690 RCV000434448	598	G>V	lung Neoplasm of brain Glioblastoma central_nervous_system [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
CA4265703 rs143152775 RCV000709006	606	L>V	Hereditary cancer [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000709007 rs764290273 CA4265710	613	A>T	Hereditary cancer [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000987880 CA367582310 rs952307505 RCV001861939 RCV000709008	639	N>T	EGFR-related lung cancer Hereditary cancer Lung carcinoma [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000709009 COSM35840 rs1562783502 CA367582953	651	V>M	lung Hereditary cancer central_nervous_system [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000709010 RCV000120694 rs150423237 CA158453	675	R>Q	Hereditary cancer [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA4265946 RCV000709011 rs138193597	678	T>M	Hereditary cancer [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000438760 CA16602609 rs1057519794	690	E>K	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs936074781 CA158931874 RCV001294703	697	E>Q	EGFR-related lung cancer [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
COSM13427 VAR_026084 RCV000038374 rs397517085 CA135761 RCV000206908	709	E>A	lung Lung carcinoma found in a lung cancer sample; more sensitive to gefitinib than wild-type [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV000038375 rs397517086	709	E>D	Non-small cell lung carcinoma [ClinVar]	Yes	ClinVar dbSNP
rs397517085 CA175990 COSM13009 RCV000207006 RCV000150615 VAR_069498	709	E>G	found in a lung cancer sample; constitutively activated kinase with higher levels of basal autophosphorylation; more sensitive to gefitinib than wild-type lung large_intestine Lung carcinoma [UniProt, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
VAR_026086 RCV000038381 COSM6239 rs121913428 RCV000436293 RCV000426037 CA135775	719	G>A	found in a lung cancer sample lung Glioblastoma Non-small cell lung carcinoma Lung adenocarcinoma [UniProt, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
COSM6253 CA126719 RCV000018086 VAR_026087 rs28929495 RCV000433465 RCV000038380 RCV000426731	719	G>C	found in a lung cancer sample lung Glioblastoma Non-small cell lung carcinoma Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic Lung adenocarcinoma [UniProt, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV000420993 RCV000439067 RCV000418583 rs121913428 COSM18425 CA16602537 RCV000428419 VAR_026088	719	G>D	found in a lung cancer sample lung oesophagus Squamous cell lung carcinoma large_intestine Glioblastoma central_nervous_system Non-small cell lung carcinoma Lung adenocarcinoma [UniProt, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
COSM6252 CA126722 rs28929495 RCV000423860 VAR_019297 RCV000434135 RCV000018087 RCV000154198 RCV001851901	719	G>S	lung EGFR-related lung cancer biliary_tract large_intestine Non-small cell lung carcinoma Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic Neoplasm of the large intestine found in a lung cancer sample; somatic mutation; strongly increased kinase activity; constitutively activated kinase with higher levels of basal autophosphorylation; more sensitive to gefitinib than wild-type [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV000421183 VAR_026089 rs1051753269 RCV001861477 RCV001195233 COSM13979 CA16602800	724	G>S	found in a lung cancer sample lung EGFR-related lung cancer large_intestine Neoplasm of the large intestine [UniProt, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP gnomAD
CA16602723 COSM13432 rs121913467 RCV000444748	731	W>*	lung adrenal_gland Non-small cell lung carcinoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000428149 rs121913446 RCV000441469 CA16602538 COSM13181	733	P>L	lung large_intestine Non-small cell lung carcinoma Esophageal squamous cell carcinoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM18419 CA16602539 rs121913420 RCV000424211 VAR_026090	734	E>K	found in a lung cancer sample lung Non-small cell lung carcinoma [UniProt, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
CA16602540 RCV000434054 RCV000442962 COSM13182 rs121913430	735	G>S	lung Prostate neoplasm thyroid Non-small cell lung carcinoma prostate [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000423407 CA16602541 COSM13183 rs121913466	742	V>A	lung large_intestine Non-small cell lung carcinoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs121913433 CA16602542 RCV000433245 COSM14243	745	K>R	Squamous cell carcinoma of the head and neck upper_aerodigestive_tract large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs397517094 RCV000038389	746	E>missing	Non-small cell lung carcinoma [ClinVar]	Yes	ClinVar dbSNP
rs1786518484 RCV001255641	746	E>missing	Lip and oral cavity carcinoma [ClinVar]	Yes	ClinVar dbSNP
RCV000424472 COSM13184 CA16602724 rs121913427	746	E>K	lung upper_aerodigestive_tract Non-small cell lung carcinoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA180723 rs121913427 RCV000154381	746	E>Q	Non-small cell lung carcinoma [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000018085 rs397509368 RCV000154240	747	L>P	Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic [ClinVar]	Yes	ClinVar dbSNP
RCV000434243 CA135803 RCV000443228 RCV000038392 COSM26704 rs397517097	747	L>S	lung Squamous cell lung carcinoma Lung carcinoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs397517098 RCV000038393	747	L>S	Non-small cell lung carcinoma [ClinVar]	Yes	ClinVar dbSNP
CA16603146 rs1057520037 RCV000444877	749	E>Q	Lung carcinoma [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000425827 CA135812 COSM6219 rs121913229 RCV000442888 RCV000038395	750	A>P	lung Non-small cell lung carcinoma Lung adenocarcinoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA16602725 COSM13186 RCV000432149 rs121913464	752	S>Y	lung Non-small cell lung carcinoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000436542 CA4266020 RCV000441908 rs121913231 COSM6268	753	P>S	Head and neck neoplasm large_intestine skin Non-small cell lung carcinoma haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
RCV000677877 rs397517102 CA4266023 COSM133588	757	K>R	biliary_tract Lung adenocarcinoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA16602543 rs121913418 COSM13188 RCV000425618	761	D>N	lung Non-small cell lung carcinoma prostate [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
CA135827 COSM21984 rs121913418 RCV000435465 RCV000038400	761	D>Y	lung Non-small cell lung carcinoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
COSM26445 rs397517107 CA135837 RCV000038406 RCV001852804	767	A>V	lung eye EGFR-related lung cancer stomach [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM6241 RCV000038407 CA135840 RCV000435248 VAR_069502 RCV000428042 rs121913465	768	S>I	found in a lung cancer sample; constitutively activated kinase with higher levels of basal autophosphorylation; more sensitive to gefitinib than wild-type lung Carcinoma of esophagus oesophagus Squamous cell lung carcinoma central_nervous_system Non-small cell lung carcinoma prostate [UniProt, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV000150613 rs397517109 RCV000038409	768	S>missing	Non-small cell lung carcinoma [ClinVar]	Yes	ClinVar dbSNP
CA135843 rs397517108 COSM6241 RCV000038408	768	S>I	lung oesophagus central_nervous_system Non-small cell lung carcinoma prostate [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA645561565 RCV000790622 rs1584238193	768	S>IL	Non-small cell lung carcinoma [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_069503 COSM13425 rs147149347 RCV000206947 CA350947	769	V>M	found in a lung cancer sample lung Lung carcinoma [UniProt, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV000595622 rs1554350382	770	D>ES	Lung adenocarcinoma [ClinVar]	Yes	ClinVar dbSNP
RCV000038413 rs397517111	771	N>GL	Non-small cell lung carcinoma [ClinVar]	Yes	ClinVar dbSNP
RCV000038414 rs397517112	772	P>H	Non-small cell lung carcinoma [ClinVar]	Yes	ClinVar dbSNP
RCV000038418 rs397517116	773	H>missing	Non-small cell lung carcinoma [ClinVar]	Yes	ClinVar dbSNP
RCV000420488 COSM13433 CA16602544 rs121913432	773	H>R	lung Non-small cell lung carcinoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs397517114 RCV000038416	774	V>AH	Non-small cell lung carcinoma [ClinVar]	Yes	ClinVar dbSNP
RCV000038419 rs1554350366	774	V>GH	Non-small cell lung carcinoma [ClinVar]	Yes	ClinVar dbSNP
rs1057519861 CA16602785 RCV000440892	797	C>S	Non-small cell lung carcinoma [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1215679186 RCV000709012 RCV001861940 CA367578933	803	R>W	EGFR-related lung cancer Hereditary cancer [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000425650 CA16602727 COSM12986 rs121913431	810	G>D	upper_aerodigestive_tract Squamous cell carcinoma large_intestine [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000444211 CA16602726 rs121913230 COSM13192	810	G>S	lung Squamous cell carcinoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000709013 rs1489158055 RCV000987883 CA367580097	829	E>Q	Hereditary cancer Lung carcinoma [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs150036236 RCV000677875 RCV000677878 COSM53105 CA4266102	831	R>H	lung peritoneum Squamous cell lung carcinoma large_intestine Lung adenocarcinoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA135920 COSM18423 rs397517127 RCV000038435	834	V>L	lung Non-small cell lung carcinoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM6227 RCV000038436 RCV000206918 VAR_069504 rs397517128 CA135921	835	H>L	lung Lung carcinoma found in a lung cancer sample; more sensitive to gefitinib than wild-type [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
rs864621996 COSM13426 VAR_069505 RCV000206923 CA350916	838	L>V	lung Lung carcinoma found in a lung cancer sample; more sensitive to gefitinib than wild-type [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV000426205 rs146795390 CA16602666 COSM85894	843	V>I	lung upper_aerodigestive_tract biliary_tract Head and neck neoplasm [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP dbSNP gnomAD
CA367580237 RCV000709015 COSM1651735 rs1292517709	852	K>R	lung Hereditary cancer [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD
COSM12366 RCV000431153 CA135930 rs121913443 VAR_026101 RCV000038439	858	L>M	found in a lung cancer sample lung Non-small cell lung carcinoma [UniProt, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
CA16602729 RCV000419082 rs121434568 COSM29578	858	L>Q	lung Non-small cell lung carcinoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA16602730 COSM6224 RCV000425876 rs1057519848	858	L>R	lung peritoneum ovary thymus upper_aerodigestive_tract thyroid large_intestine Non-small cell lung carcinoma stomach prostate breast [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs121913444 CA16602602 RCV000427689	861	L>P	Squamous cell lung carcinoma [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM6213 rs121913444 RCV000420876 VAR_026102 RCV000438538 CA176021 RCV000150630 RCV000428294	861	L>Q	found in a lung cancer sample; constitutively activated kinase with higher levels of basal autophosphorylation; more sensitive to gefitinib than wild-type lung upper_aerodigestive_tract Squamous cell lung carcinoma central_nervous_system Non-small cell lung carcinoma Lung adenocarcinoma [UniProt, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
rs121913444 CA135940 COSM12374 RCV000038443 RCV000434431	861	L>R	lung Squamous cell lung carcinoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM214350 RCV000119351 rs104886013 CA269859	868	E>K	lung Familial cancer of breast [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
CA4266178 RCV000709016 rs575565383	934	P>S	Hereditary cancer [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000119366 RCV001854575 rs104886026 CA156294	956	D>N	EGFR-related lung cancer Endometrial carcinoma [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000709017 CA158459 rs144496976 RCV000120696	962	R>H	Hereditary cancer [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA367581872 RCV000987887 rs1383485737	966	I>V	Lung carcinoma [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA158937840 rs866928399 RCV000709018	999	R>C	Hereditary cancer [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs149248025 CA4266235 RCV000709019	999	R>H	Hereditary cancer [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA367582576 rs1562805773 RCV000786032	1019	P>Q	Glioblastoma multiforme, somatic [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000786033 rs1562805765 CA367582573	1019	P>T	Glioblastoma multiforme, somatic [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000332908 rs142442994 CA4266284	1047	V>M	Lung carcinoma [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000709020 CA158938600 rs1051476261	1082	I>R	Hereditary cancer [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001292631 rs1788061731	1091	E>A	Lung cancer [ClinVar]	Yes	ClinVar dbSNP
RCV000987888 rs918187279 CA158940457	1107	N>S	Lung carcinoma [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000709021 rs770749711 COSM327142 CA4266384	1118	A>T	Hereditary cancer urinary_tract haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs149174093 RCV000709022 RCV000947013 RCV000120699 CA158468	1156	H>P	EGFR-related lung cancer Hereditary cancer [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs199661469 CA4266419 RCV001965381	1183	P>T	EGFR-related lung cancer [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
RCV001230931 rs1788077836	1196	E>missing	EGFR-related lung cancer [ClinVar]	Yes	ClinVar dbSNP
VAR_042096 CA4266437 RCV000709023 rs35918369	1210	A>V	Hereditary cancer [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs749433287 CA4265097	3	P>L		No	ClinGen ExAC gnomAD
rs773069229 CA367611173	3	P>S		No	ClinGen ExAC TOPMed gnomAD
rs773069229 CA4265096	3	P>T		No	ClinGen ExAC TOPMed gnomAD
CA4265098 rs771210838	4	S>F		No	ClinGen ExAC gnomAD
rs771210838 CA367611180	4	S>Y		No	ClinGen ExAC gnomAD
rs759582787 CA367611184	5	G>A		No	ClinGen ExAC TOPMed gnomAD
rs759582787 CA4265100	5	G>E		No	ClinGen ExAC TOPMed gnomAD
CA4265099 rs774487133	5	G>R		No	ClinGen ExAC gnomAD
rs767651648 CA4265101	6	T>A		No	ClinGen ExAC TOPMed gnomAD
rs761183109 CA4265103	7	A>P		No	ClinGen ExAC gnomAD
CA4265104 rs761183109	7	A>S		No	ClinGen ExAC gnomAD
CA367611195 rs754259847	8	G>R		No	ClinGen ExAC TOPMed gnomAD
CA4265105 rs754259847	8	G>R		No	ClinGen ExAC TOPMed gnomAD
CA367611204 rs1583835979	9	A>V		No	ClinGen Ensembl
CA367611209 rs1217714114	10	A>E		No	ClinGen TOPMed gnomAD
CA4265108 rs567894670	13	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1180577495 CA367611249	17	A>V		No	ClinGen TOPMed
CA4265109 rs754527029	18	L>F		No	ClinGen ExAC gnomAD
CA159566182 rs866936692	19	C>*		No	ClinGen Ensembl
CA4265110 rs780865931	19	C>S		No	ClinGen ExAC gnomAD
CA159566183 rs1028735720	20	P>Q		No	ClinGen TOPMed gnomAD
CA367611265 rs1028735720	20	P>R		No	ClinGen TOPMed gnomAD
CA367611268 rs1194702075	21	A>E		No	ClinGen TOPMed gnomAD
CA4265112 rs373129709	21	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs373129709 CA4265111	21	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA367611270 rs1194702075	21	A>V		No	ClinGen TOPMed gnomAD
rs1257423707 CA367611276	22	S>N		No	ClinGen TOPMed
rs987102148 CA159566184	23	R>W		No	ClinGen TOPMed gnomAD
CA159566185 rs911767401	24	A>T		No	ClinGen TOPMed gnomAD
rs1583836261 CA367611302	27	E>K		No	ClinGen Ensembl
rs749088691 CA4265114	28	K>E		No	ClinGen ExAC gnomAD
CA4265116 rs774551548	29	K>T		No	ClinGen ExAC gnomAD
rs746023542 CA4265135	32	Q>R		No	ClinGen ExAC gnomAD
CA4265136 rs772311777	33	G>S		No	ClinGen ExAC gnomAD
rs144158123 CA367574128	34	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA4265137 rs144158123	34	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1406387936 CA367574144	35	S>N		No	ClinGen gnomAD
CA367574276 rs1442908038	42	G>S		No	ClinGen gnomAD
rs147740818 CA158897378	43	T>A		No	ClinGen Ensembl
CA158897379 rs1001476056	44	F>S		No	ClinGen TOPMed gnomAD
CA158897380 rs1052582656	46	D>E		No	ClinGen gnomAD
rs1343024399 CA367574374	46	D>V		No	ClinGen gnomAD
CA367574424 rs1263793183	48	F>S		No	ClinGen gnomAD
rs759219499 CA4265144	53	R>K		No	ClinGen ExAC gnomAD
rs767259994 CA4265145	56	N>S		No	ClinGen ExAC gnomAD
CA367574645 rs1562752927	57	N>K		No	ClinGen Ensembl
rs763572530 CA4265148	59	E>A		No	ClinGen ExAC gnomAD
rs760228905 CA4265147	59	E>K		No	ClinGen ExAC TOPMed gnomAD
COSM327144 COSM327143 rs1470757416 CA367574922	71	Q>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs369580836 CA158897461	71	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs369580836 CA4265149	71	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA367574973 rs1269583681	73	N>K		No	ClinGen TOPMed
CA4265151 rs778638117	76	L>I		No	ClinGen ExAC gnomAD
CA367575070 rs1584142083	80	K>E		No	ClinGen Ensembl
CA4265166 rs374986786	81	T>A		No	ClinGen ESP ExAC gnomAD
rs1309796320 CA367575626	82	I>V		No	ClinGen gnomAD
rs867736946 CA158898082	83	Q>*		No	ClinGen Ensembl
rs1282801317 CA367575643	84	E>D		No	ClinGen gnomAD
rs753319070 CA4265167	84	E>K		No	ClinGen ExAC gnomAD
rs753319070 CA4265168	84	E>Q		No	ClinGen ExAC gnomAD
rs765137528 CA4265169	88	Y>C		No	ClinGen ExAC gnomAD
rs750399097 CA4265170	90	L>F		No	ClinGen ExAC gnomAD
rs142061256 CA4265171	90	L>H		No	ClinGen ESP ExAC gnomAD
rs779879611 CA4265172	92	A>V		No	ClinGen ExAC gnomAD
rs1422504667 CA367575710	95	T>I		No	ClinGen TOPMed
rs35515689 CA158898122	95	T>P		No	ClinGen Ensembl
CA367575711 rs1260357262	96	V>M		No	ClinGen gnomAD
rs755189573 CA367575717	97	E>K		No	ClinGen ExAC gnomAD
rs755189573 CA4265174	97	E>Q		No	ClinGen ExAC gnomAD
rs17289589 CA4265176	98	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs17289589 VAR_019293 CA4265175	98	R>Q		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs376963968 CA158898190	100	P>H		No	ClinGen ESP
rs866460345 CA158898179	100	P>S		No	ClinGen Ensembl
COSM42977 CA4265179 rs141271101 COSM1559805	105	Q>H	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA4265180 rs771366736	106	I>V		No	ClinGen ExAC gnomAD
rs145113601 CA4265181	109	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1488843432 CA367575810	111	M>I		No	ClinGen TOPMed
CA4265182 rs746631025	111	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1385682568 CA367575825	113	Y>F		No	ClinGen gnomAD
rs1219568637 CA367575828 COSM174733 COSM174732	114	E>K	large_intestine breast [Cosmic]	No	ClinGen cosmic curated TOPMed
CA367575836 rs1332428616	115	N>H		No	ClinGen gnomAD
CA367575861 rs1247204001	118	A>G		No	ClinGen gnomAD
CA367575859 rs1249939049	118	A>S		No	ClinGen gnomAD
CA367575894 rs1229095978	123	S>F		No	ClinGen TOPMed
rs1295285127 CA367575907 COSM1727959 COSM1727960	125	Y>C	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
rs377444977 CA4265187	127	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA367575923 rs1485906237	127	A>V		No	ClinGen gnomAD
CA4265188 rs762889647	129	K>T		No	ClinGen ExAC gnomAD
rs1485016142 CA367575945	131	G>R		No	ClinGen TOPMed gnomAD
CA4265190 rs751337426	134	E>K		No	ClinGen ExAC gnomAD
CA367575984 rs754854319	137	M>L		No	ClinGen ExAC TOPMed gnomAD
CA4265191 rs754854319	137	M>V		No	ClinGen ExAC TOPMed gnomAD
CA367576004 rs1437762652	138	R>K		No	ClinGen gnomAD
rs767608234 CA4265192	141	Q>H		No	ClinGen ExAC gnomAD
CA367576478 rs1198703773	145	H>N		No	ClinGen TOPMed
CA4265219 rs780476417	145	H>R		No	ClinGen ExAC TOPMed gnomAD
CA158901246 rs532655845	147	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA367576491 rs532655845	147	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4265222 rs532655845	147	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1090861 COSM1090863 rs1562756942 CA367576495	148	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs759532524 CA4265226	149	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs774146556 COSM3412168 COSM3412169 CA4265225	149	R>W	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA367576505 rs1398462122	150	F>L		No	ClinGen TOPMed
CA158901300 rs1023675360	151	S>N		No	ClinGen Ensembl
CA4265227 rs551591429	152	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA367576529 rs1584152588	153	N>T		No	ClinGen Ensembl
CA158901311 rs919891568	155	A>S		No	ClinGen TOPMed
CA158901314 rs937907395	158	N>D		No	ClinGen TOPMed
rs761795138 CA4265231 COSM1205052 COSM1205053	165	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs587778252 COSM252489 COSM252488 CA158474 RCV000120701	165	R>W	ovary [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs1584152661 CA367576618	166	D>G		No	ClinGen Ensembl
rs765416003 CA4265232	167	I>T		No	ClinGen ExAC TOPMed gnomAD
CA4265233 rs530692924	168	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA4265235 rs758945260	170	S>I		No	ClinGen ExAC gnomAD
rs758945260 CA4265234	170	S>N		No	ClinGen ExAC gnomAD
CA4265237 rs17289686	171	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4265240 rs770290445	177	S>L		No	ClinGen ExAC TOPMed gnomAD
rs770290445 CA158901404	177	S>W		No	ClinGen ExAC TOPMed gnomAD
COSM122787 CA4265242 COSM122788 rs745755245	178	M>I	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA367576698 rs1219334377	178	M>V		No	ClinGen gnomAD
CA4265244 rs772071414	183	H>D		No	ClinGen ExAC gnomAD
CA4265243 rs772071414	183	H>N		No	ClinGen ExAC gnomAD
CA158901444 rs921852102	184	L>Q		No	ClinGen TOPMed
CA367576744 rs1224862076	184	L>V		No	ClinGen TOPMed gnomAD
rs770074413 CA4265267	192	P>T		No	ClinGen ExAC TOPMed gnomAD
rs766507267 CA4265270	196	N>S		No	ClinGen ExAC TOPMed gnomAD
CA367576858 rs1335854310	198	S>N		No	ClinGen gnomAD
COSM94179 CA4265273 rs767829342 COSM94180	204	E>K	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA4265307 rs779156097	211	T>S		No	ClinGen ExAC gnomAD
CA4265309 rs750423932	212	K>Q		No	ClinGen ExAC gnomAD
CA367577356 rs1372330611	216	A>G		No	ClinGen gnomAD
rs1190573231 CA367577352	216	A>T		No	ClinGen gnomAD
CA4265310 rs776050604	218	Q>H		No	ClinGen ExAC gnomAD
rs761098433 CA4265311	220	S>P		No	ClinGen ExAC gnomAD
CA4265314 rs776886714	221	G>R		No	ClinGen ExAC gnomAD
rs776886714 CA4265313	221	G>W		No	ClinGen ExAC gnomAD
CA4265316 rs751295137	222	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4265317 rs759106015	224	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1046438724 CA158910917	227	S>F		No	ClinGen TOPMed gnomAD
CA4265318 rs766952405	227	S>P		No	ClinGen ExAC gnomAD
rs752616839 CA4265319	228	P>H		No	ClinGen ExAC gnomAD
rs1247276424 CA367577432	229	S>G		No	ClinGen gnomAD
rs1291943679 CA367577435	229	S>N		No	ClinGen gnomAD
rs1357816760 CA367577438	229	S>R		No	ClinGen gnomAD
CA367577443 rs1203062307	230	D>A		No	ClinGen gnomAD
CA4265320 rs756040606	231	C>G		No	ClinGen ExAC
rs777575581 CA4265321 COSM1131544	231	C>S	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1040130291 CA158910927	235	Q>R		No	ClinGen Ensembl
CA367577510 rs1447176163	239	G>A		No	ClinGen TOPMed gnomAD
CA367577506 rs1584168566	239	G>R		No	ClinGen Ensembl
rs370744986 CA158910928	241	T>I		No	ClinGen ESP TOPMed gnomAD
rs554981236 CA367577536	244	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA367577537 rs200664836	244	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4265324 rs554981236	244	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1562762650 CA367577539	245	E>K		No	ClinGen Ensembl
rs780001754 CA4265327	247	D>H		No	ClinGen ExAC TOPMed gnomAD
CA4265328 rs780001754	247	D>N		No	ClinGen ExAC TOPMed gnomAD
CA4265329 rs765893589	249	L>P		No	ClinGen ExAC gnomAD
CA4265354 rs775252718	252	R>G		No	ClinGen ExAC gnomAD
rs760101437 COSM1176673 CA4265355 COSM1176674	252	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA4265356 rs374084791	253	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776490661 CA4265357	255	R>*		No	ClinGen ExAC gnomAD
rs372202099 CA4265358	255	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4265360 rs138847501	257	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs766478921 CA4265362	259	T>M		No	ClinGen ExAC gnomAD
rs1396651256 CA367577643	259	T>P		No	ClinGen gnomAD
CA367577670 COSM1451553 COSM1451554 rs1057519829	263	T>A	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA4265366 rs748627278	265	P>H		No	ClinGen ExAC TOPMed gnomAD
rs748627278 CA367577686	265	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4265368 VAR_019294 rs17336639	266	P>R		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA367577702 rs1483973439	268	M>T		No	ClinGen gnomAD
CA367577709 rs1220356597	269	L>F		No	ClinGen gnomAD
rs1268199326 CA367577732	272	P>H		No	ClinGen gnomAD
CA367577735 rs1584172616	273	T>P		No	ClinGen Ensembl
CA367577742 rs1412517681	274	T>A		No	ClinGen TOPMed
rs966001143 CA158912216 COSM1651737	274	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs771396903 CA4265370	276	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1215369904 CA367577765	277	M>T		No	ClinGen TOPMed
rs918710688 CA158912222	281	P>R		No	ClinGen TOPMed gnomAD
COSM453243 CA4265373 rs199796955 COSM453244	282	E>K	breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA4265374 rs776146284	285	Y>H		No	ClinGen ExAC gnomAD
rs1020654485 CA158912259	290	T>I		No	ClinGen TOPMed gnomAD
CA367577860 rs1220574404	291	C>F		No	ClinGen TOPMed
rs762649354 CA4265378	292	V>A		No	ClinGen ExAC
rs150549265 CA158912268	292	V>M		No	ClinGen ESP TOPMed gnomAD
CA367577871 rs1562764304	293	K>R		No	ClinGen Ensembl
CA4265380 rs751667358	297	R>C		No	ClinGen ExAC gnomAD
rs779094647 CA4265406	301	V>L		No	ClinGen ExAC gnomAD
rs182002674 CA4265408	304	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA367577961 rs1277911361	304	H>R		No	ClinGen gnomAD
rs1278838499 CA367577965	305	G>C		No	ClinGen TOPMed
CA367577977 rs1321610304	307	C>R		No	ClinGen gnomAD
CA367577987 rs1584177685	308	V>A		No	ClinGen Ensembl
CA4265413 rs749132706	308	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1444692842 CA367577989	309	R>G		No	ClinGen gnomAD
CA4265414 rs770879879	312	G>A		No	ClinGen ExAC gnomAD
rs149321481 CA4265415	313	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA158913491 COSM191973 COSM191972 rs552062864	314	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes
rs745658347 CA4265416	315	S>N		No	ClinGen ExAC gnomAD
rs1484032303 CA367578036	316	Y>C		No	ClinGen gnomAD
rs775800262 CA4265418	318	M>I		No	ClinGen ExAC gnomAD
rs1175454134 CA367578057	319	E>*		No	ClinGen gnomAD
CA367578075 rs1584177889	321	D>A		No	ClinGen Ensembl
CA367578079 rs764038041	321	D>E		No	ClinGen ExAC TOPMed gnomAD
CA4265421 rs776791214	322	G>S		No	ClinGen ExAC gnomAD
rs367680488 CA4265423	323	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA4265422 rs761844164 COSM145361 COSM145360	323	V>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1343888047 CA367578091	324	R>C		No	ClinGen gnomAD
rs758748662 CA4265425	324	R>H		No	ClinGen ExAC gnomAD
rs766740458 CA4265426	325	K>Q		No	ClinGen ExAC gnomAD
CA4265428 rs144460286	328	K>Q		No	ClinGen ESP ExAC gnomAD
rs777342222 CA4265429	329	C>R		No	ClinGen ExAC gnomAD
CA4265434 rs778901010	330	E>G		No	ClinGen ExAC gnomAD
CA4265433 rs778901010	330	E>V		No	ClinGen ExAC gnomAD
CA4265435 rs771929085	334	R>H		No	ClinGen ExAC gnomAD
rs1437418906 CA367578168	336	V>M		No	ClinGen Ensembl
CA367578220 rs1284204782	342	I>L		No	ClinGen TOPMed gnomAD
rs1381010963 CA367578224	342	I>T		No	ClinGen TOPMed
rs771398183 CA4265465	343	G>V		No	ClinGen ExAC TOPMed
CA158914201 rs371234907	348	S>L		No	ClinGen ESP TOPMed
rs767790289 CA4265468	351	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4265469 rs753466844 COSM191976 COSM191977	354	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1423110562 CA367578326	357	K>I		No	ClinGen gnomAD
COSM2155593 rs1164954595 CA367578374 COSM2155594	363	T>I	central_nervous_system [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1584180408 CA367578369	363	T>P		No	ClinGen Ensembl
rs749927550 CA4265472	368	D>H		No	ClinGen ExAC gnomAD
rs758017949 CA4265473	368	D>V		No	ClinGen ExAC gnomAD
rs780131926 CA4265474	369	L>I		No	ClinGen ExAC TOPMed gnomAD
CA367578422 rs1405999227	371	I>V		No	ClinGen gnomAD
rs1341708803 CA367578452	376	F>L		No	ClinGen gnomAD
CA4265498 rs755972013	383	H>N		No	ClinGen ExAC gnomAD
CA367578548 rs1169461493	383	H>R		No	ClinGen TOPMed
rs1197499057 CA367578610	390	Q>P		No	ClinGen gnomAD
rs1389500636 CA367578617	391	E>K		No	ClinGen TOPMed
CA367578652 rs1178642122	394	I>M		No	ClinGen gnomAD
CA4265501 rs757265130	398	V>I		No	ClinGen ExAC gnomAD
CA4265531 rs777165081	404	F>I		No	ClinGen ExAC
rs1230904747 CA367579107	406	L>Q		No	ClinGen gnomAD
CA367579111 rs1179620001	407	I>V		No	ClinGen gnomAD
rs770466526 CA4265533	413	N>S		No	ClinGen ExAC gnomAD
CA158915088 rs895496054	413	N>Y		No	ClinGen Ensembl
CA367579164 rs1424097500	414	R>M		No	ClinGen gnomAD
CA367579170 rs1274543317	415	T>K		No	ClinGen TOPMed
rs758956103 CA4265535	416	D>E		No	ClinGen ExAC gnomAD
CA367579185 rs1456537863	417	L>R		No	ClinGen gnomAD
rs1390766480 CA367579188	418	H>Y		No	ClinGen gnomAD
rs760639592 CA4265538	421	E>K		No	ClinGen ExAC gnomAD
CA367579235 rs1230287644	424	E>D		No	ClinGen gnomAD
rs558565565 CA367579237	425	I>L		No	ClinGen TOPMed
CA158915152 rs558565565	425	I>V		No	ClinGen TOPMed
rs201364864 CA158915161	426	I>V		No	ClinGen Ensembl
CA4265541 rs765369188	430	T>N		No	ClinGen ExAC gnomAD
CA367579305 rs1171743336	433	H>Q		No	ClinGen gnomAD
CA4265542 rs750713244	433	H>R		No	ClinGen ExAC gnomAD
CA367579322 rs1345387967	436	F>I		No	ClinGen TOPMed
rs1166858113 COSM1090876 CA367579352 COSM1090874	441	V>I	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA4265560 rs765091640	442	S>N		No	ClinGen ExAC gnomAD
CA158917066 rs1032006770	444	N>S		No	ClinGen TOPMed gnomAD
rs372990493 CA158917067	445	I>V		No	ClinGen ESP TOPMed gnomAD
CA367579388 rs1310061365	446	T>I		No	ClinGen gnomAD
rs763266323 CA4265562	448	L>F		No	ClinGen ExAC TOPMed gnomAD
CA158917074 rs377567759	451	R>C		No	ClinGen ESP TOPMed gnomAD
CA4265564 rs751667594	451	R>H		No	ClinGen ExAC TOPMed gnomAD
CA367579417 rs751667594	451	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1226827460 CA367579423	452	S>F		No	ClinGen gnomAD
rs1177337471 CA367579450	456	I>T		No	ClinGen TOPMed
rs1340811850 CA367579456	457	S>N		No	ClinGen gnomAD
CA158917102 rs146711874	458	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753269876 CA4265567	460	D>N		No	ClinGen ExAC gnomAD
rs200592648 CA158917122	461	V>A		No	ClinGen Ensembl
rs1197924233 CA367579492	462	I>M		No	ClinGen TOPMed gnomAD
CA4265569 rs746763556	464	S>A		No	ClinGen ExAC TOPMed gnomAD
CA4265568 rs746763556	464	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1009449079 CA158917169	467	K>N		No	ClinGen Ensembl
CA158917178 rs866211550	469	L>F		No	ClinGen Ensembl
rs1389684767 CA367579562	473	N>D		No	ClinGen gnomAD
CA158917186 rs1021252393	475	I>M		No	ClinGen Ensembl
COSM122790 CA367579576 COSM122789 rs1221992080	475	I>V	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
CA4265573 rs746521110	476	N>S		No	ClinGen ExAC TOPMed gnomAD
rs768208443 CA4265574	479	K>N		No	ClinGen ExAC gnomAD
rs147732025 CA367579612	480	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA158917202 rs147732025	480	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA158435 rs587778247 RCV000120688	481	F>L		No	ClinGen ClinVar Ensembl dbSNP
rs982033612 CA158917235	485	G>A		No	ClinGen TOPMed gnomAD
CA367579642 rs769434273	485	G>C		No	ClinGen ExAC TOPMed gnomAD
CA4265577 rs769434273	485	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1271375100 CA367579665	488	T>S		No	ClinGen gnomAD
rs768500612 CA158917244	491	I>V		No	ClinGen Ensembl
rs766676440 CA4265580	495	G>D		No	ClinGen ExAC gnomAD
rs774773441 CA367579728	497	N>K		No	ClinGen ExAC TOPMed gnomAD
CA158917250 rs927866979	498	S>T		No	ClinGen TOPMed
CA367579746 rs1206537132	500	K>E		No	ClinGen gnomAD
CA4265605 rs760711480	503	G>S		No	ClinGen ExAC TOPMed gnomAD
CA367579783 rs1334180707	504	Q>E		No	ClinGen gnomAD
CA367579788 rs1188823834	504	Q>H		No	ClinGen TOPMed
rs1287531915 CA367579815	508	A>D		No	ClinGen TOPMed gnomAD
rs1287531915 CA367579816	508	A>G		No	ClinGen TOPMed gnomAD
rs1407608935 CA367579814	508	A>T		No	ClinGen gnomAD
rs1240855741 CA367579821	509	L>S		No	ClinGen gnomAD
rs371114444 CA4265607	511	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA158438 rs587778248 RCV000120689	512	P>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs754646330 CA4265610	513	E>*		No	ClinGen ExAC TOPMed gnomAD
CA367579844 rs1339627647	513	E>A		No	ClinGen TOPMed
rs754646330 CA4265611	513	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4265613 rs564398642	518	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4265612 rs368484180	518	P>S		No	ClinGen ESP ExAC TOPMed
rs116057045 CA4265616	519	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4265615 rs749186957	519	E>G		No	ClinGen ExAC gnomAD
COSM3721608 rs2227983 RCV000120690 CA158441 VAR_019295	521	R>K	upper_aerodigestive_tract thyroid large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2227983 CA158918328	521	R>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2227983 CA158918331	521	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs587778249 CA158444	524	V>I		No	ClinGen ExAC TOPMed gnomAD
rs587778249 CA158918367	524	V>L		No	ClinGen ExAC TOPMed gnomAD
rs768627073 CA367579932	527	R>G		No	ClinGen ExAC TOPMed gnomAD
RCV000120692 rs150477666 CA158447	527	R>Q		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA4265620 rs768627073	527	R>W		No	ClinGen ExAC TOPMed gnomAD
CA4265621 rs762336338	528	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1330512770 CA367579958	531	R>Q		No	ClinGen gnomAD
CA4265626 rs752350337	536	V>A		No	ClinGen ExAC gnomAD
COSM382936 rs767193132 COSM382935 CA4265625	536	V>M	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1275660363 CA367580000	537	D>E		No	ClinGen gnomAD
rs1038997598 CA158918413	537	D>N		No	ClinGen TOPMed
rs1209490447 CA367580004	538	K>T		No	ClinGen TOPMed
CA367580023 rs1340266257	540	N>K		No	ClinGen TOPMed
CA367580021 rs1562772187	540	N>S		No	ClinGen Ensembl
CA367580026 rs1208487495	541	L>F		No	ClinGen gnomAD
CA158918420 rs764356379	544	G>D		No	ClinGen Ensembl
rs755584255 CA4265627	544	G>S		No	ClinGen ExAC gnomAD
rs778985185 CA4265650	545	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1427028322 CA367580410	547	R>G		No	ClinGen TOPMed
CA367580429 rs1419611893	549	F>S		No	ClinGen gnomAD
CA158923939 rs940873450	551	E>V		No	ClinGen TOPMed
CA367580450 rs1162236403	552	N>S		No	ClinGen gnomAD
CA4265653 rs779741928	554	E>G		No	ClinGen ExAC gnomAD
rs747203424 CA4265654	556	I>M		No	ClinGen ExAC gnomAD
rs1488695603 CA367580483	557	Q>*		No	ClinGen TOPMed
rs748219780 CA367580506	560	P>S		No	ClinGen ExAC TOPMed gnomAD
rs748219780 CA4265657	560	P>T		No	ClinGen ExAC TOPMed gnomAD
rs769918274 CA4265658	561	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA4265660 rs773651001	564	P>T		No	ClinGen ExAC gnomAD
rs1258211270 CA367580538	565	Q>R		No	ClinGen TOPMed
CA4265661 rs771278492	567	M>V		No	ClinGen ExAC gnomAD
CA367580562 rs1228970909	568	N>K		No	ClinGen TOPMed
rs774558548 CA4265662	570	T>S		No	ClinGen ExAC gnomAD
CA4265663 rs759987693	572	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1294381114 CA367580589	573	G>R		No	ClinGen TOPMed
rs370810719 CA4265665	574	R>Q		No	ClinGen ESP ExAC gnomAD
rs760471492 CA4265664	574	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1249099747 CA367580613	575	G>E		No	ClinGen TOPMed gnomAD
CA158924980 rs961967996	576	P>A		No	ClinGen Ensembl
CA4265681 rs556794990	578	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs761585117 CA4265683	580	I>T		No	ClinGen ExAC TOPMed gnomAD
rs764787649 CA4265684	581	Q>K		No	ClinGen ExAC gnomAD
CA367580652 rs1376117521	581	Q>P		No	ClinGen gnomAD
CA367580658 rs1306429085	582	C>R		No	ClinGen gnomAD
rs1447966312 CA367580670	583	A>V		No	ClinGen TOPMed
CA158925010 rs956386356	584	H>Q		No	ClinGen TOPMed
rs1562775356 CA367580675	584	H>R		No	ClinGen Ensembl
CA367580705 rs1281578598	586	I>M		No	ClinGen gnomAD
CA367580700 rs542237406	586	I>N		No	ClinGen 1000Genomes ExAC gnomAD
rs542237406 CA4265686	586	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs953188147 CA158925015	586	I>V		No	ClinGen TOPMed
CA158925029 rs989939484	588	G>S		No	ClinGen TOPMed gnomAD
rs751570775 CA4265688	589	P>H		No	ClinGen ExAC TOPMed gnomAD
COSM747428 rs751570775 COSM747427 CA367580740	589	P>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1235180640 CA367580737	589	P>S		No	ClinGen TOPMed
CA158925059 rs28384375	592	V>A		No	ClinGen Ensembl
rs144943614 CA367580777	592	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756307243 CA4265692	593	K>N		No	ClinGen ExAC gnomAD
CA158925064 rs371483915	593	K>Q		No	ClinGen Ensembl
rs778011429 CA367580805	594	T>I		No	ClinGen ExAC TOPMed gnomAD
rs778011429 CA4265693	594	T>N		No	ClinGen ExAC TOPMed gnomAD
CA367580831 COSM191988 COSM21689 rs1477025000	596	P>L	large_intestine central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA4265695 rs757419349	597	A>S		No	ClinGen ExAC TOPMed gnomAD
CA367580858 rs1206543227	599	V>D		No	ClinGen gnomAD
CA4265698 rs746395542	600	M>L		No	ClinGen ExAC gnomAD
CA4265699 rs149375515	600	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4265697 rs746395542	600	M>V		No	ClinGen ExAC gnomAD
CA158925095 rs201498575	601	G>E		No	ClinGen 1000Genomes TOPMed
CA367580917 rs769537072	603	N>K		No	ClinGen ExAC TOPMed gnomAD
rs913231421 CA158925113	604	N>S		No	ClinGen TOPMed
CA367580940 rs1436144358	605	T>A		No	ClinGen gnomAD
CA367580937 rs1436144358	605	T>P		No	ClinGen gnomAD
rs201061916 CA4265708	611	A>T		No	ClinGen ExAC TOPMed gnomAD
CA367581036 rs1214761095	612	D>N		No	ClinGen gnomAD
COSM3412198 CA4265714 rs750850720 COSM3412199	614	G>D	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs779076899 CA158925128	614	G>R		No	ClinGen ExAC TOPMed gnomAD
CA4265713 rs779076899	614	G>S		No	ClinGen ExAC TOPMed gnomAD
rs756534868 CA4265715	616	V>A		No	ClinGen ExAC
CA158925146 COSM35825 COSM1559817 rs150899403	620	C>Y	central_nervous_system [Cosmic]	No	ClinGen cosmic curated Ensembl
rs747376358 CA4265717	623	N>Y		No	ClinGen ExAC gnomAD
CA158925157 rs28384376 COSM13560	624	C>F	central_nervous_system [Cosmic]	No	ClinGen cosmic curated Ensembl
rs753315940 CA4265720	627	G>R		No	ClinGen ExAC gnomAD
rs552265738 CA4265857	631	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA367582273 COSM379422 rs1157210752	633	L>F	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA4265858 rs765068810	634	E>K		No	ClinGen ExAC TOPMed gnomAD
rs957617087 CA158929703	635	G>S		No	ClinGen TOPMed gnomAD
CA4265860 rs762592162	638	T>A		No	ClinGen ExAC gnomAD
rs571064657 COSM1318972 CA4265861	638	T>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs952307505 CA158929727	639	N>S		No	ClinGen TOPMed gnomAD
rs200989322 CA4265863	640	G>W		No	ClinGen 1000Genomes ExAC gnomAD
rs1467090960 CA367582835	641	P>S		No	ClinGen gnomAD
rs1584222108 CA367582856	643	I>F		No	ClinGen Ensembl
rs1584222116 CA367582862	643	I>N		No	ClinGen Ensembl
rs770443325 CA4265912	644	P>L		No	ClinGen ExAC TOPMed gnomAD
rs770443325 CA158930979	644	P>R		No	ClinGen ExAC TOPMed gnomAD
CA367582882 rs1584222146	645	S>A		No	ClinGen Ensembl
CA4265915 COSM375343 rs772046081	645	S>C	lung central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA4265916 rs140516819	646	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367582899 rs1300062728	646	I>S		No	ClinGen TOPMed
rs140516819 CA158931015	646	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764359156 CA4265918	647	A>T		No	ClinGen ExAC TOPMed gnomAD
rs776728879 CA4265920	648	T>I		No	ClinGen ExAC gnomAD
rs776728879 CA4265919	648	T>S		No	ClinGen ExAC gnomAD
rs758954817 CA4265923	651	V>G		No	ClinGen ExAC gnomAD
CA367582978 rs1467640610	653	A>S		No	ClinGen gnomAD
CA367582988 rs1584222281	654	L>V		No	ClinGen Ensembl
CA367583001 rs767037049	655	L>F		No	ClinGen ExAC gnomAD
rs767037049 CA4265924	655	L>V		No	ClinGen ExAC gnomAD
CA4265926 rs755356995	659	V>A		No	ClinGen ExAC TOPMed
CA158931051 rs201580890	659	V>L		No	ClinGen 1000Genomes
CA367583053 rs1426364365	660	V>M		No	ClinGen TOPMed gnomAD
CA367583075 rs1424043738	663	G>R		No	ClinGen gnomAD
CA4265929 rs756705853	664	I>F		No	ClinGen ExAC gnomAD
rs1393556056 CA367583084	664	I>T		No	ClinGen gnomAD
rs745422316 CA4265931	665	G>S		No	ClinGen ExAC TOPMed gnomAD
rs771988878 CA4265932	666	L>F		No	ClinGen ExAC gnomAD
rs771988878 CA367583093	666	L>V		No	ClinGen ExAC gnomAD
rs746757722 CA367583105	668	M>L		No	ClinGen ExAC gnomAD
rs76946721 CA158931120	668	M>R		No	ClinGen Ensembl
rs746757722 CA4265934	668	M>V		No	ClinGen ExAC gnomAD
COSM1090883 CA367583112 rs1231769201	669	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs768336804 CA4265935	669	R>Q		No	ClinGen ExAC gnomAD
CA4265936 rs776875545	670	R>S		No	ClinGen ExAC TOPMed gnomAD
CA4265938 rs770193776 COSM1205054	671	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1266662784 CA367583137	671	R>H		No	ClinGen gnomAD
rs1199980775 CA367583154	673	I>V		No	ClinGen TOPMed
rs17337079 CA4265942	674	V>F		No	ClinGen ExAC TOPMed gnomAD
CA4265941 rs17337079 VAR_019296	674	V>I		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs1417155613 CA367583204	677	R>C		No	ClinGen TOPMed gnomAD
COSM22555 CA4265945 rs756870976	677	R>H	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA367583211 rs1167057229	678	T>A		No	ClinGen gnomAD
CA4265949 rs373336251	680	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs369399038 CA158931189	680	R>W		No	ClinGen ESP TOPMed gnomAD
rs1338409357 CA367583254	682	L>M		No	ClinGen TOPMed gnomAD
CA367583255 rs1338409357	682	L>V		No	ClinGen TOPMed gnomAD
rs1427460008 CA367583268	684	Q>R		No	ClinGen TOPMed
CA367583282 rs1305428034	686	R>K		No	ClinGen gnomAD
rs1314649810 CA367583287	687	E>K		No	ClinGen gnomAD
CA4265976 rs749554270	688	L>F		No	ClinGen ExAC gnomAD
CA135755 rs397517083 RCV000038372	689	V>L		No	ClinGen ClinVar Ensembl dbSNP
rs1168763004 CA367583397	691	P>T		No	ClinGen gnomAD
CA367583505 rs1331500903	700	N>K		No	ClinGen gnomAD
CA4265978 rs774261340	701	Q>K		No	ClinGen ExAC gnomAD
rs549015965 CA158931884	702	A>V		No	ClinGen Ensembl
rs1273890779 CA367583535	703	L>F		No	ClinGen gnomAD
rs1220800698 CA367583579	706	I>M		No	ClinGen gnomAD
rs397517084 CA135758 RCV000038373	706	I>T		No	ClinGen ClinVar Ensembl dbSNP
rs397517087 RCV000038376	709	E>D		No	ClinVar dbSNP
rs727504256 VAR_026085 RCV000154230 CA180563 COSM12988	709	E>K	found in a lung cancer sample lung upper_aerodigestive_tract central_nervous_system prostate [UniProt, Cosmic]	No	ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD
CA180528 COSM12371 RCV000154197 rs397517085	709	E>V	lung [Cosmic]	No	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs1317269653 CA367583626 COSM133148	710	T>A	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA158931910 rs373578289	713	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs373578289 CA4265981	713	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA367583710 rs1300698331	716	K>E		No	ClinGen TOPMed
CA135772 rs28929495	719	G>R		No	ClinGen Ensembl
CA4265983 rs772799315 COSM747426	720	S>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM53266 CA4265984 rs762494280	722	A>V	ovary central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs767505234 COSM53264 CA4265987	725	T>M	ovary pleura [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA151178 rs483352805	726	V>M		No	ClinGen Ensembl
COSM12718 rs138240620 CA4265991	727	Y>C	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs121913434 COSM13180 CA158932443	730	L>F	lung oesophagus large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA4266011 rs771995749	730	L>P		No	ClinGen ExAC gnomAD
rs771995749 CA4266010	730	L>R		No	ClinGen ExAC gnomAD
rs121913434 CA151172	730	L>V		No	ClinGen Ensembl
RCV000038384 COSM13432 rs397517089 CA135782	731	W>*	lung adrenal_gland [Cosmic]	No	ClinGen cosmic curated ClinVar dbSNP gnomAD
rs397517089 COSM53101 CA367583965	731	W>L	peritoneum large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA367584059 rs1488735128	738	V>A		No	ClinGen gnomAD
CA4266013 rs780083331	739	K>N		No	ClinGen ExAC gnomAD
rs397517090 RCV000038386	740	I>missing		No	ClinVar dbSNP
CA135788 rs397517092 COSM52934 RCV000038387	740	I>T	lung [Cosmic]	No	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA4266014 COSM3734669 rs747133806	740	I>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
RCV000120695 rs587778250 CA158456 COSM1090888	742	V>I	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
COSM26509 rs759256622 CA4266019	743	A>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM28512 rs1554348865 CA367584132	744	I>V	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs727503014 RCV000150616	744	I>VK		No	ClinVar dbSNP
rs727504324 RCV000154414	745	K>missing		No	ClinVar dbSNP
RCV000154229 rs121913425	746	E>A		No	ClinVar dbSNP
RCV000154328 rs121913422	746	E>A		No	ClinVar dbSNP
RCV000154239 rs727504258	746	E>V		No	ClinVar dbSNP
RCV000154418 rs727504326	746	E>missing		No	ClinVar dbSNP
rs727504444 RCV000155025	746	E>A		No	ClinVar dbSNP
RCV000154438 rs727504332	746	E>IP		No	ClinVar dbSNP
rs727504281 RCV000154289	746	E>IP		No	ClinVar dbSNP
RCV000154445 rs121913424	746	E>V		No	ClinVar dbSNP
RCV000150617 rs121913421	746	E>missing		No	ClinVar dbSNP
RCV000154199 RCV001311279 rs727504233	746	E>missing		No	ClinVar dbSNP
rs727503015 RCV000150618	746	E>AP		No	ClinVar dbSNP
rs727503015 RCV000154327	746	E>AP		No	ClinVar dbSNP
RCV000154579 rs727504402	746	E>I		No	ClinVar dbSNP
RCV000154644 rs727504428	746	E>L		No	ClinVar dbSNP
RCV000150619 rs727503016	746	E>VP		No	ClinVar dbSNP
RCV000154290 rs727504282	746	E>VS		No	ClinVar dbSNP
RCV000038391 CA135800 rs397517096	747	L>P		No	ClinGen ClinVar Ensembl dbSNP
RCV000154485 rs727504339	747	L>QS		No	ClinVar dbSNP
rs121913442 RCV000154236	747	L>missing		No	ClinVar dbSNP
rs121913440 RCV000154231	747	L>missing		No	ClinVar dbSNP
rs121913439 CA158932639	747	L>FP		No	ClinGen Ensembl
RCV000154238 rs727504257	747	L>P		No	ClinVar dbSNP
rs727504278 RCV000154283	747	L>P		No	ClinVar dbSNP
RCV000154252 rs727504266	747	L>missing		No	ClinVar dbSNP
rs121913435 RCV000154593	747	L>P		No	ClinVar dbSNP
rs121913436 RCV000154382	747	L>missing		No	ClinVar dbSNP
RCV000154456 rs727504339	747	L>T		No	ClinVar dbSNP
rs727504414 RCV000154604	747	L>TRD		No	ClinVar dbSNP
rs1379373864 COSM133198 CA367584163	748	R>K	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA367584165 rs1338629905	748	R>S		No	ClinGen TOPMed
rs397517099 RCV000038394	749	E>D		No	ClinVar dbSNP
rs1468115455 CA367584176	750	A>G		No	ClinGen TOPMed
rs727504284 RCV000154293	751	T>missing		No	ClinVar dbSNP
rs727504395 RCV000154566	751	T>D		No	ClinVar dbSNP
COSM13185 rs727504316 RCV000154392 CA180736	751	T>I	lung prostate haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
rs397517100 RCV000038396	751	T>K		No	ClinVar dbSNP
RCV000154195 rs121913463	752	S>missing		No	ClinVar dbSNP
RCV000154196 rs727504232	752	S>missing		No	ClinVar dbSNP
rs1373423544 CA367584183	752	S>T		No	ClinGen gnomAD
rs559717059 COSM1168015 CA4266021	753	P>L	oesophagus large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM85993 RCV000038397 rs397517101 CA135818	754	K>E	lung [Cosmic]	No	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000038398 rs397517102 CA135821 COSM94183	757	K>M	lung [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA4266024 rs761470472 COSM707173	758	E>G	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
RCV000150621 rs727503018	760	L>missing		No	ClinVar dbSNP
rs1476693500 CA367578510	763	A>V		No	ClinGen gnomAD
rs1554350337 RCV000150622	765	V>HH		No	ClinVar dbSNP
CA4266049 rs374873413	765	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4266048 rs374873413 COSM28603	765	V>M	lung NS [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1322818258 CA367578567	766	M>I		No	ClinGen gnomAD
rs1323967615 CA367578549	766	M>L		No	ClinGen gnomAD
rs727504263 RCV000154275	767	A>missing		No	ClinVar dbSNP
rs759418157 CA158928267	767	A>S		No	ClinGen Ensembl
rs756614898 COSM1451595 CA4266050	768	S>G	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs778199483 CA367578605	768	S>R		No	ClinGen ExAC TOPMed gnomAD
CA135847 RCV000038410 COSM6242 rs147149347	769	V>L	lung [Cosmic]	No	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000038411 CA135850 COSM6242 rs147149347	769	V>L	lung [Cosmic]	No	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000154618 rs1554350367	770	D>missing		No	ClinVar dbSNP
rs730880333 RCV000154242	770	D>missing		No	ClinVar dbSNP
RCV000150623 rs727503019	770	D>missing		No	ClinVar dbSNP
rs1554350347 RCV000154246	770	D>GY		No	ClinVar dbSNP
RCV000150625 rs727503020 CA176014	771	N>D		No	ClinGen ClinVar Ensembl dbSNP
rs1554350351 RCV000150624	771	N>SY		No	ClinVar dbSNP
CA367578660 rs1584238358	771	N>T		No	ClinGen Ensembl
rs1554350351 RCV000154251	771	N>TH		No	ClinVar dbSNP
rs397517115 RCV000154568	771	N>missing		No	ClinVar dbSNP
RCV000038415 rs397517113	772	P>missing		No	ClinVar dbSNP
rs746677478 CA4266053	772	P>A		No	ClinGen ExAC gnomAD
rs727503021 RCV000150626	772	P>V		No	ClinVar dbSNP
CA158928422 rs767075090	773	H>D		No	ClinGen Ensembl
RCV000154617 rs727503013	773	H>PNP		No	ClinVar dbSNP
rs1554350381 RCV000038417	773	H>missing		No	ClinVar dbSNP
rs768468531 CA367578711	773	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA158928432 COSM25090 rs567477136	774	V>L	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes TOPMed gnomAD
CA158928427 COSM13006 rs567477136	774	V>M	lung central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes TOPMed gnomAD
rs1275022697 COSM6226 CA367578749	776	R>C	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
COSM22940 CA151166 rs483352806	776	R>H	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA135881 rs397517119 COSM22942 RCV000038422	779	G>C	lung [Cosmic]	No	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000038423 rs397517120 CA135884	779	G>V		No	ClinGen ClinVar Ensembl dbSNP
rs1424329195 CA367578817	784	S>C		No	ClinGen gnomAD
rs1424329195 COSM13189 CA367578815	784	S>F	lung large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs762672864 CA367578825	786	V>L		No	ClinGen ExAC TOPMed gnomAD
COSM27110 rs762672864 CA4266058	786	V>M	lung large_intestine prostate breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA367578835 rs1050171	787	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367578832 rs1458440474	787	Q>P		No	ClinGen gnomAD
rs767674013 CA4266061	789	I>L		No	ClinGen ExAC gnomAD
rs1562790728 CA367578848	789	I>M		No	ClinGen Ensembl
VAR_026098 rs121434569 COSM6240 CA090928	790	T>M	lung upper_aerodigestive_tract biliary_tract large_intestine central_nervous_system soft_tissue found in a lung cancer sample; increased kinase activity [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD
rs1413493019 CA367578861	791	Q>H		No	ClinGen gnomAD
CA158928547 rs370289230	794	P>T		No	ClinGen ESP TOPMed
COSM20891 rs754426793 CA4266064	796	G>S	upper_aerodigestive_tract large_intestine prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs483352807 CA151175 COSM28608	798	L>H	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs779394350 CA4266066 COSM87019	801	Y>C	lung large_intestine stomach [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA4266065 COSM22953 rs757642107	801	Y>H	peritoneum upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA367578928 COSM28516 rs1351046105	802	V>F	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA367578926 rs1351046105 COSM1651734	802	V>I	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA367578934 rs1263602634	803	R>Q		No	ClinGen TOPMed gnomAD
COSM249780 rs552733360 CA158928574	804	E>K	lung oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes gnomAD
rs754652044 COSM28609 CA4266068	806	K>E	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1378775962 CA367578990	811	S>C		No	ClinGen gnomAD
CA367578997 rs1584238849	812	Q>P		No	ClinGen Ensembl
rs1278942267 CA367579014	815	L>F		No	ClinGen TOPMed
rs1418675303 CA367579020	816	N>D		No	ClinGen gnomAD
CA4266073 rs367859869	821	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000038431 rs397517125 CA135908	822	A>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs483352808 CA151169	824	G>D		No	ClinGen ExAC gnomAD
CA367580073 COSM1578128 rs1474170437	825	M>I	biliary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
CA158934114 rs150749913	827	Y>F		No	ClinGen ESP
rs1256743514 CA367580083	827	Y>H		No	ClinGen TOPMed
CA135911 COSM24846 RCV000038432 rs371228501	831	R>C	pancreas bone [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM28286 rs745812480 CA4266105	832	R>C	ovary endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM3366978 rs772091823 CA4266106	832	R>H	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA367580118 COSM28514 rs772091823	832	R>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs397517126 CA135914 VAR_026099 RCV000038433 COSM13424	833	L>V	lung found in a lung cancer sample; more sensitive to gefitinib than wild-type [Cosmic, UniProt]	No	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
VAR_026100 CA135917 COSM18423 rs397517127 RCV000038434	834	V>L	found in a lung cancer sample lung [UniProt, Cosmic]	No	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV000150628 rs1554353237	835	H>missing		No	ClinVar dbSNP
rs374952732 CA4266107 COSM28604	836	R>C	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs146121458 CA4266108 COSM133566	836	R>H	lung urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs761920220 CA4266110	837	D>N		No	ClinGen ExAC TOPMed gnomAD
CA367580145 rs1402174871	837	D>V		No	ClinGen TOPMed
CA4266111 COSM85961 rs143884981	840	A>T	lung biliary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs773720036 CA4266112	841	R>S		No	ClinGen ExAC gnomAD
rs1003269794 COSM26446 CA158934194	842	N>D	lung stomach [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1003269794 COSM291680 CA367580169	842	N>H	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs148934350 RCV000038438 CA135927 COSM22943	848	P>L	lung salivary_gland upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs148934350 CA367580209	848	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1433831615 CA367580218	849	Q>H		No	ClinGen gnomAD
COSM6224 VAR_019298 CA126713 rs121434568	858	L>R	lung peritoneum ovary upper_aerodigestive_tract thymus thyroid large_intestine prostate stomach breast found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity; more sensitive to gefitinib than wild-type [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt Ensembl dbSNP
CA16602728 COSM6224 rs1057519847	858	L>R	lung peritoneum ovary thymus upper_aerodigestive_tract thyroid large_intestine stomach prostate breast [Cosmic]	No	ClinGen cosmic curated Ensembl
CA4266115 rs763666690	859	A>V		No	ClinGen ExAC gnomAD
RCV000038442 CA135937 rs397517130	860	K>N		No	ClinGen ClinVar Ensembl dbSNP
CA158934272 COSM14070 rs909797662	863	G>D	lung thymus upper_aerodigestive_tract prostate stomach [Cosmic]	No	ClinGen cosmic curated TOPMed
COSM13197 CA367580302 rs1171287261	864	A>T	lung biliary_tract adrenal_gland [Cosmic]	No	ClinGen cosmic curated TOPMed
rs756703787 COSM13198 CA4266116	866	E>K	lung adrenal_gland [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
RCV000038445 CA135946 rs397517132	866	E>V		No	ClinGen ClinVar Ensembl dbSNP
rs104886013 CA367580330	868	E>Q		No	ClinGen gnomAD
CA367580341 rs1440961719 COSM26036	869	Y>C	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM13008 RCV000038447 rs397517134 CA135952	871	A>G	lung [Cosmic]	No	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA158934800 rs1038116801	877	P>T		No	ClinGen Ensembl
rs766161581 CA4266138	879	K>N		No	ClinGen ExAC gnomAD
CA158934806 rs918327720	879	K>R		No	ClinGen Ensembl
rs751549547 CA4266139	881	M>I		No	ClinGen ExAC gnomAD
CA135956 RCV000038449 rs397517136	881	M>T		No	ClinGen ClinVar Ensembl dbSNP
rs956455215 CA158934818	881	M>V		No	ClinGen TOPMed
COSM1451613 rs754772262 CA4266140	884	E>G	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs397517137 RCV000038450 CA135959	885	S>L		No	ClinGen ClinVar Ensembl dbSNP
rs756403828 CA4266143	888	H>Q		No	ClinGen ExAC gnomAD
CA4266142 rs748000023	888	H>R		No	ClinGen ExAC gnomAD
rs987884612 CA158934845	891	Y>C		No	ClinGen TOPMed
rs1468532072 CA367580897	892	T>A		No	ClinGen TOPMed
CA4266144 rs151064287	892	T>I		No	ClinGen ESP ExAC gnomAD
rs749270913 CA4266145	894	Q>H		No	ClinGen ExAC gnomAD
rs1334821010 CA367580970	897	V>A		No	ClinGen TOPMed
CA367580962 COSM14071 rs1238258563	897	V>I	lung large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA158934859 rs376176117	900	Y>F		No	ClinGen Ensembl
rs1009023863 CA158936902	901	G>A		No	ClinGen TOPMed gnomAD
CA367581022 rs1399582136	901	G>R		No	ClinGen gnomAD
CA4266166 rs779015469	902	V>L		No	ClinGen ExAC gnomAD
rs1140475 RCV000038451	903	T>=		No	ClinVar dbSNP
rs1375731369 CA367581180	903	T>S		No	ClinGen gnomAD
rs538497054 CA4266169	904	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1550026 CA367581204 rs1218871031	907	L>M	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1431327306 CA367581215	908	M>T		No	ClinGen TOPMed gnomAD
CA367581220 rs1584267369	909	T>P		No	ClinGen Ensembl
rs1011342626 CA158936914	912	S>Y		No	ClinGen gnomAD
CA367581266 rs1275784384	915	Y>*		No	ClinGen TOPMed
rs1203302510 CA367581270	916	D>G		No	ClinGen gnomAD
rs376822837 CA4266171	916	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA4266172 COSM1235506 rs775695605	917	G>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA367581281 rs1321754240	918	I>F		No	ClinGen gnomAD
rs1390478413 CA367581286	919	P>T		No	ClinGen TOPMed
rs770529788 CA367581304 COSM28515	921	S>R	lung large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA158936921 rs961150162	922	E>K		No	ClinGen TOPMed gnomAD
rs961150162 CA367581306	922	E>Q		No	ClinGen TOPMed gnomAD
rs773998239 CA4266174	922	E>V		No	ClinGen ExAC gnomAD
rs1421825015 CA367581323	924	S>F		No	ClinGen TOPMed
rs759179459 CA4266175	926	I>L		No	ClinGen ExAC gnomAD
rs767507216 CA4266176	926	I>N		No	ClinGen ExAC TOPMed gnomAD
CA367581333 rs767507216	926	I>T		No	ClinGen ExAC TOPMed gnomAD
CA367581354 rs1247205023	929	K>R		No	ClinGen TOPMed
CA367581372 rs1223694747	932	R>C		No	ClinGen TOPMed
rs1562803717 CA367581386	934	P>L		No	ClinGen Ensembl
rs763924711 CA4266179	938	I>M		No	ClinGen ExAC gnomAD
CA4266180 rs753612121	940	T>A		No	ClinGen ExAC gnomAD
CA158936937 rs867740042	940	T>I		No	ClinGen Ensembl
CA4266181 rs757493321	941	I>M		No	ClinGen ExAC gnomAD
CA367581434 rs1271051562	942	D>A		No	ClinGen gnomAD
rs967910623 CA367581432	942	D>H		No	ClinGen TOPMed gnomAD
CA158936942 rs967910623	942	D>N		No	ClinGen TOPMed gnomAD
rs1375457410 CA367581442	943	V>D		No	ClinGen gnomAD
rs779164024 CA4266182	945	M>V		No	ClinGen ExAC gnomAD
rs1169803481 CA367581468	946	I>V		No	ClinGen gnomAD
rs1562803802 CA367581489	947	M>I		No	ClinGen Ensembl
CA4266183 rs368698152	947	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4266184 rs368698152	947	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4266185 rs542967903	948	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773001497 CA4266197	955	A>G		No	ClinGen ExAC gnomAD
rs201830126 CA4266198	955	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1185470008 CA367581745	956	D>V		No	ClinGen TOPMed gnomAD
CA367581772 rs1368179445	958	R>H		No	ClinGen TOPMed gnomAD
CA367581790 rs1359029869	960	K>E		No	ClinGen gnomAD
rs17337451 CA4266199	962	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4266201 rs17337451 VAR_019299	962	R>G		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA4266200 rs17337451	962	R>S		No	ClinGen ExAC TOPMed gnomAD
CA4266202 rs751632602	963	E>G		No	ClinGen ExAC TOPMed gnomAD
rs755504552 CA4266203	970	K>R		No	ClinGen ExAC gnomAD
rs781609053 CA4266204	971	M>T		No	ClinGen ExAC gnomAD
CA367581971 rs748491031	973	R>*		No	ClinGen ExAC TOPMed gnomAD
CA4266205 rs748491031	973	R>G		No	ClinGen ExAC TOPMed gnomAD
rs756554871 CA4266206	973	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1486130926 CA367581975	974	D>N		No	ClinGen gnomAD
rs1215599430 CA367581998	975	P>L		No	ClinGen TOPMed gnomAD
CA367582003 rs1486804407	976	Q>E		No	ClinGen gnomAD
rs773034947 CA158937480	976	Q>R		No	ClinGen Ensembl
CA158937483 rs1140476	977	R>C		No	ClinGen Ensembl
rs745490627 CA4266208	977	R>H		No	ClinGen ExAC TOPMed gnomAD
CA367582022 rs745490627	977	R>P		No	ClinGen ExAC TOPMed gnomAD
CA158937496 rs1042344966	981	I>M		No	ClinGen TOPMed
rs771888227 CA4266209	981	I>T		No	ClinGen ExAC gnomAD
CA4266210 rs775131364	982	Q>L		No	ClinGen ExAC gnomAD
COSM506581 CA158937824 rs750582201	984	D>N	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
CA367582338 rs750582201	984	D>Y		No	ClinGen gnomAD
CA4266227 rs779583988	986	R>K		No	ClinGen ExAC
RCV000120698 CA158465 VAR_019300 rs17290699	988	H>P		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs17290699 CA4266228	988	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4266229 rs781134348	990	P>S		No	ClinGen ExAC gnomAD
CA4266230 rs748011710	991	S>G		No	ClinGen ExAC gnomAD
rs748011710 CA4266231	991	S>R		No	ClinGen ExAC gnomAD
CA158462 rs587778251 RCV000120697	994	D>GA		No	ClinGen ClinVar Ensembl dbSNP
rs940489358 CA158937832	995	S>C		No	ClinGen Ensembl
rs771085105 CA4266234	996	N>K		No	ClinGen ExAC TOPMed gnomAD
rs762795214 CA4266233	996	N>S		No	ClinGen ExAC gnomAD
CA367582434 rs1289194907	998	Y>C		No	ClinGen TOPMed
rs149248025 CA10624139	999	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA367582456 rs1319486482	1002	M>T		No	ClinGen TOPMed
rs1225496600 CA367582453	1002	M>V		No	ClinGen gnomAD
rs1256257325 CA367582461	1003	D>N		No	ClinGen gnomAD
CA4266239 rs752859687	1006	D>A		No	ClinGen ExAC TOPMed gnomAD
CA367582507 rs747143752	1008	D>E		No	ClinGen ExAC TOPMed gnomAD
CA4266240 rs747143752	1008	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1487738928 CA367582506	1008	D>G		No	ClinGen gnomAD
rs1162232225 CA367582501	1008	D>N		No	ClinGen TOPMed
CA4266241 rs148019583	1009	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA367582516 rs757699239	1010	V>L		No	ClinGen ExAC TOPMed gnomAD
CA4266243 rs757699239	1010	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1226829354 CA367582521	1011	V>L		No	ClinGen TOPMed gnomAD
rs995022327 CA158937870	1012	D>E		No	ClinGen TOPMed
COSM27096 rs1420841957 CA367582527	1012	D>H	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs779716935 CA4266244	1013	A>T		No	ClinGen ExAC gnomAD
CA158937877 rs868676634	1013	A>V		No	ClinGen Ensembl
rs751192280 CA4266245	1014	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1302295057 CA367582544	1015	E>K		No	ClinGen TOPMed gnomAD
CA367582562 rs1345851089	1017	L>F		No	ClinGen gnomAD
CA367582568 rs1362774341	1018	I>V		No	ClinGen TOPMed
CA4266248 rs747726185	1022	G>D		No	ClinGen ExAC gnomAD
CA367582610 COSM133564 rs1276184054	1022	G>S	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1275431248 CA367582657	1025	S>C		No	ClinGen gnomAD
CA4266250 rs777701385	1025	S>R		No	ClinGen ExAC gnomAD
CA367582712 rs1296356016	1029	T>A		No	ClinGen TOPMed
rs182857647 CA367582715	1029	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs182857647 CA4266252	1029	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1490923813 CA367582734	1031	R>G		No	ClinGen TOPMed gnomAD
CA4266254 rs570295933	1031	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1490923813 CA367582732	1031	R>W		No	ClinGen TOPMed gnomAD
CA4266256 rs775415330	1032	T>A		No	ClinGen ExAC TOPMed gnomAD
CA4266258 rs764626121	1034	L>I		No	ClinGen ExAC gnomAD
rs34352568 CA4266259	1034	L>P		No	ClinGen ExAC gnomAD
rs34352568 VAR_042095 CA158937919	1034	L>R		No	ClinGen UniProt ExAC dbSNP gnomAD
CA4266260 rs762218653	1037	S>T		No	ClinGen ExAC gnomAD
CA4266261 rs765496858	1037	S>Y		No	ClinGen ExAC gnomAD
CA367582883 rs1420042114	1041	T>A		No	ClinGen gnomAD
CA367582898 COSM485465 rs1161802556	1042	S>N	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
rs375035197 CA4266282	1043	N>S		No	ClinGen ESP ExAC gnomAD
rs1584272084 CA367582938	1045	S>F		No	ClinGen Ensembl
rs1364225726 CA367582933	1045	S>P		No	ClinGen gnomAD
rs773437153 CA4266283	1046	T>N		No	ClinGen ExAC gnomAD
CA367582962 rs1367552759	1047	V>G		No	ClinGen gnomAD
rs1186558284 CA367582963	1048	A>P		No	ClinGen TOPMed
CA4266285 rs78244461 COSM18445	1048	A>V	large_intestine stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA367582991 rs1462369239	1050	I>F		No	ClinGen gnomAD
CA367582998 rs529174941	1050	I>S		No	ClinGen 1000Genomes ExAC gnomAD
CA4266286 rs529174941	1050	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs755574890 CA4266288	1051	D>A		No	ClinGen ExAC TOPMed gnomAD
rs755574890 CA4266287	1051	D>G		No	ClinGen ExAC TOPMed gnomAD
CA4266311 rs758314765	1056	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs751466686 CA4266313	1057	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1321975678 CA367583178	1058	C>S		No	ClinGen gnomAD
CA367583189 rs1406092971	1059	P>L		No	ClinGen gnomAD
rs755238987 CA4266314	1059	P>S		No	ClinGen ExAC gnomAD
rs748111724 CA4266316	1061	K>Q		No	ClinGen ExAC gnomAD
CA367583241 rs1224584642	1063	D>G		No	ClinGen TOPMed gnomAD
rs1250448734 CA367583250	1064	S>G		No	ClinGen gnomAD
CA367583302 rs1339648899	1064	S>I		No	ClinGen gnomAD
CA4266317 rs769949680	1065	F>I		No	ClinGen ExAC gnomAD
CA4266318 rs778095401	1067	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs749783044 CA4266319	1068	R>*		No	ClinGen ExAC TOPMed gnomAD
CA367583327 rs374501041	1068	R>P		No	ClinGen ESP gnomAD
CA158938550 rs374501041	1068	R>Q		No	ClinGen ESP gnomAD
CA4266321 rs771471723	1070	S>N		No	ClinGen ExAC gnomAD
CA4266320 rs771471723	1070	S>T		No	ClinGen ExAC gnomAD
CA158938560 rs887824842	1072	D>G		No	ClinGen TOPMed gnomAD
CA4266323 rs768226783	1073	P>T		No	ClinGen ExAC gnomAD
CA367583374 rs1275982156	1074	T>S		No	ClinGen Ensembl
CA367583387 rs1161834426	1075	G>D		No	ClinGen gnomAD
CA367583383 rs776375114	1075	G>R		No	ClinGen ExAC gnomAD
rs776375114 CA4266324	1075	G>S		No	ClinGen ExAC gnomAD
CA4266327 rs764780987	1076	A>P		No	ClinGen ExAC TOPMed gnomAD
CA4266326 rs764780987	1076	A>T		No	ClinGen ExAC TOPMed gnomAD
CA4266328 rs755868272	1076	A>V		No	ClinGen ExAC TOPMed gnomAD
CA367583409 rs1164785061	1077	L>S		No	ClinGen gnomAD
rs751342391 CA367583419	1078	T>A		No	ClinGen ExAC gnomAD
CA4266330 rs751342391	1078	T>S		No	ClinGen ExAC gnomAD
CA4266332 rs184614596	1079	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1023185448 CA158938595	1080	D>N		No	ClinGen TOPMed gnomAD
CA4266334 rs371229748	1082	I>L		No	ClinGen ESP ExAC gnomAD
CA4266333 rs371229748	1082	I>V		No	ClinGen ESP ExAC gnomAD
CA158938601 rs373990043	1083	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs535060253 CA158938604	1084	D>N		No	ClinGen TOPMed gnomAD
CA158938608 rs1007460137	1085	T>S		No	ClinGen Ensembl
rs1032201502 CA158938610	1086	F>I		No	ClinGen TOPMed
CA4266336 rs749400221	1087	L>R		No	ClinGen ExAC gnomAD
rs771418435 CA4266337	1088	P>L		No	ClinGen ExAC gnomAD
rs367870311 CA158938622	1090	P>S		No	ClinGen ESP TOPMed gnomAD
CA367583595 rs1328333567	1091	E>K		No	ClinGen TOPMed gnomAD
CA4266371 rs775345513 COSM1451620	1097	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs775345513 CA367584298	1097	V>L		No	ClinGen ExAC TOPMed gnomAD
CA4266372 rs760404029	1099	K>T		No	ClinGen ExAC gnomAD
rs764332519 CA367584325	1101	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4266373 rs764332519	1101	P>R		No	ClinGen ExAC TOPMed gnomAD
CA158940430 rs868339962	1101	P>S		No	ClinGen Ensembl
rs1268506326 CA367584329	1102	A>S		No	ClinGen gnomAD
CA367584335 rs1370192881	1103	G>D		No	ClinGen TOPMed
CA4266376 rs139388758	1103	G>S		No	ClinGen ESP ExAC gnomAD
rs376598259 CA4266378	1104	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1583665277 CA367584343	1105	V>M		No	ClinGen Ensembl
rs780439043 CA4266379	1106	Q>R		No	ClinGen ExAC gnomAD
rs1055315772 CA367584369 COSM1292529	1109	V>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1055315772 CA158940476	1109	V>L		No	ClinGen TOPMed gnomAD
rs369498625 CA4266380	1112	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs755330584 CA4266381	1112	N>S		No	ClinGen ExAC TOPMed gnomAD
CA367584416 rs1485236403	1116	N>D		No	ClinGen gnomAD
CA367584422 rs1186762640	1116	N>K		No	ClinGen gnomAD
rs777435609 CA367584423	1117	P>A		No	ClinGen ExAC gnomAD
rs1442620290 CA367584425	1117	P>H		No	ClinGen TOPMed gnomAD
CA367584426 rs1442620290	1117	P>R		No	ClinGen TOPMed gnomAD
rs777435609 CA4266382	1117	P>T		No	ClinGen ExAC gnomAD
rs773996588 CA4266385	1118	A>V		No	ClinGen ExAC TOPMed gnomAD
rs902672760 CA158940513	1119	P>R		No	ClinGen TOPMed gnomAD
CA158940507 rs868454218	1119	P>S		No	ClinGen TOPMed
CA4266388 rs775317295	1123	P>L		No	ClinGen ExAC TOPMed gnomAD
CA158940526 rs199738264	1128	P>L		No	ClinGen Ensembl
rs1358829599 CA367584515	1130	S>R		No	ClinGen gnomAD
CA4266391 rs776448547	1133	V>E		No	ClinGen ExAC gnomAD
rs865825533 CA158940555	1134	G>D		No	ClinGen TOPMed gnomAD
CA4266392 rs762016851	1134	G>S		No	ClinGen ExAC gnomAD
CA367584536 rs865825533	1134	G>V		No	ClinGen TOPMed gnomAD
rs765499904 CA4266393	1135	N>K		No	ClinGen ExAC TOPMed gnomAD
CA367584549 rs1445729019	1136	P>L		No	ClinGen gnomAD
rs780967013 CA4266397	1137	E>K		No	ClinGen ExAC gnomAD
CA367584562 rs1562810543	1138	Y>C		No	ClinGen Ensembl
CA367584568 rs1473630143	1139	L>F		No	ClinGen gnomAD
CA4266401 rs145189325	1143	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA367584598 rs1403923057	1143	Q>H		No	ClinGen gnomAD
CA367584606 rs1452191951	1145	T>P		No	ClinGen gnomAD
rs1337590341 CA367584614	1146	C>Y		No	ClinGen TOPMed gnomAD
rs778725594 CA4266402	1148	N>K		No	ClinGen ExAC gnomAD
CA367584629 rs1476431328	1148	N>S		No	ClinGen gnomAD
rs745321541 CA4266403	1150	T>I		No	ClinGen ExAC gnomAD
rs996715780 CA158940600	1152	D>E		No	ClinGen Ensembl
CA4266405 rs368892932	1152	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1451622 CA4266406 rs368892932	1152	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1230715733 CA367584660	1153	S>C		No	ClinGen gnomAD
rs1320747370 CA367584679	1156	H>Y		No	ClinGen gnomAD
CA4266408 rs761608448	1157	W>C		No	ClinGen ExAC gnomAD
rs140028234 CA158940626	1158	A>P		No	ClinGen Ensembl
CA367584699 rs1433524783	1159	Q>*		No	ClinGen TOPMed
CA367584702 rs1179392671	1159	Q>R		No	ClinGen TOPMed gnomAD
rs773454677 CA4266410	1161	G>D		No	ClinGen ExAC gnomAD
CA158471 rs41321844 RCV000120700	1162	S>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4266411 rs766347941	1162	S>R		No	ClinGen ExAC TOPMed gnomAD
CA367584730 rs1487159143	1163	H>L		No	ClinGen Ensembl
CA367584731 rs1318894874	1163	H>Q		No	ClinGen gnomAD
rs1399981803 CA367584727	1163	H>Y		No	ClinGen gnomAD
CA367584757 rs1469310856	1167	L>V		No	ClinGen gnomAD
rs751701731 CA4266412	1169	N>S		No	ClinGen ExAC gnomAD
CA367584777 rs1408630981	1170	P>A		No	ClinGen gnomAD
CA4266413 rs147896627	1173	Q>P		No	ClinGen ESP ExAC gnomAD
rs147896627 CA367584801	1173	Q>R		No	ClinGen ESP ExAC gnomAD
CA158940652 rs867182279	1176	F>L		No	ClinGen Ensembl
CA4266416 rs756556775	1177	F>L		No	ClinGen ExAC gnomAD
CA4266415 rs556324078	1177	F>S		No	ClinGen 1000Genomes ExAC TOPMed
CA367584846 rs1343156007	1179	K>N		No	ClinGen gnomAD
rs778656021 CA4266418	1181	A>T		No	ClinGen ExAC gnomAD
CA4266420 rs199661469	1183	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA4266421 rs779422878	1184	N>S		No	ClinGen ExAC TOPMed gnomAD
rs746585833 CA4266422	1185	G>A		No	ClinGen ExAC gnomAD
CA4266423 rs746585833	1185	G>D		No	ClinGen ExAC gnomAD
CA367584885 rs1255635334	1186	I>V		No	ClinGen TOPMed
CA367584895 rs1272024430	1187	F>C		No	ClinGen gnomAD
rs747600559 CA4266425	1189	G>A		No	ClinGen ExAC gnomAD
rs372948989 CA4266426	1191	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1480173156 CA367584926	1192	A>G		No	ClinGen gnomAD
rs773041247 CA4266427	1192	A>T		No	ClinGen ExAC gnomAD
CA367584927 rs1480173156	1192	A>V		No	ClinGen gnomAD
rs749441331 CA4266428	1193	E>K		No	ClinGen ExAC gnomAD
CA367584949 rs1379387764	1196	E>K		No	ClinGen gnomAD
rs376541336 CA367584963	1197	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA4266431 rs142188270	1198	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4266432 rs768074018	1199	R>T		No	ClinGen ExAC gnomAD
CA367584983 rs201717672	1201	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4266434 rs369585356	1201	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4266435 rs201717672	1201	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1301373415 CA367585028	1207	F>C		No	ClinGen gnomAD

2 associated diseases with P00533

[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: 616069]: Inflammatory skin and bowel disease, neonatal, 2 (NISBD2)

A disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. The skin lesions involve perioral and perianal erythema, psoriasiform erythroderma, with flares of erythema, scaling, and widespread pustules. Gastrointestinal symptoms include malabsorptive diarrhea that is exacerbated by intercurrent gastrointestinal infections. The hair is short or broken, and the eyelashes and eyebrows are wiry and disorganized. {ECO:0000269|PubMed:24691054}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

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 disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. The skin lesions involve perioral and perianal erythema, psoriasiform erythroderma, with flares of erythema, scaling, and widespread pustules. Gastrointestinal symptoms include malabsorptive diarrhea that is exacerbated by intercurrent gastrointestinal infections. The hair is short or broken, and the eyelashes and eyebrows are wiry and disorganized. {ECO:0000269|PubMed:24691054}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for P00533

Type	Name	Position	InterPro Accession
domain	Ubiquitin-like domain	16 - 93	IPR000626
domain	Rad60/SUMO-like domain	18 - 86	IPR022617

Functions

		Description
EC Number	2.7.10.1	Protein-tyrosine kinases
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein Endoplasmic reticulum membrane ; Single-pass type I membrane protein Golgi apparatus membrane; Single-pass type I membrane protein Nucleus membrane; Single-pass type I membrane protein Endosome Endosome membrane Nucleus	In response to EGF, translocated from the cell membrane to the nucleus via Golgi and ER (PubMed:17909029, PubMed:20674546) Endocytosed upon activation by ligand (PubMed:17182860, PubMed:17909029, PubMed:27153536, PubMed:2790960) Colocalized with GPER1 in the nucleus of estrogen agonist-induced cancer-associated fibroblasts (CAF) (PubMed:20551055)
PANTHER Family	PTHR24416	TYROSINE-PROTEIN KINASE RECEPTOR
PANTHER Subfamily	PTHR24416:SF91	EPIDERMAL GROWTH FACTOR RECEPTOR
PANTHER Protein Class	transmembrane signal receptor
PANTHER Pathway Category	EGF receptor signaling pathway EGFR Cadherin signaling pathway EGFR Gonadotropin-releasing hormone receptor pathway EGFR

26 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.
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.
cell junction	A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
cell surface	The external part of the cell wall and/or plasma membrane.
clathrin-coated endocytic vesicle membrane	The lipid bilayer surrounding a clathrin-coated endocytic vesicle.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
early endosome membrane	The lipid bilayer surrounding an early endosome.
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
endosome	A vacuole to which materials ingested by endocytosis are delivered.
endosome membrane	The lipid bilayer surrounding an endosome.
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
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.
intracellular vesicle	Any vesicle that is part of the intracellular region.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
membrane raft	Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
multivesicular body, internal vesicle lumen	The volume enclosed by the membrane of the multivesicular body internal vesicle.
nuclear membrane	Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space.
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.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.
receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
ruffle membrane	The portion of the plasma membrane surrounding a ruffle.
Shc-EGFR complex	A protein complex that contains the epidermal growth factor receptor (EGFR) and the adaptor protein Shc, and is involved in linking EGFR activation to the p21-Ras pathway.

19 GO annotations of molecular function

Name	Definition
actin filament binding	Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATPase binding	Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP.
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
double-stranded DNA binding	Binding to double-stranded DNA.
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
epidermal growth factor binding	Binding to epidermal growth factor.
epidermal growth factor-activated receptor activity	Combining with an epidermal growth factor receptor ligand and transmitting the signal across the plasma membrane to initiate a change in cell activity.
identical protein binding	Binding to an identical protein or proteins.
kinase binding	Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group.
MAP kinase kinase kinase activity	Catalysis of the phosphorylation and activation of a MAP kinase kinase; each MAP kinase kinase can be phosphorylated by any of several MAP kinase kinase kinases.
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.
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.
ubiquitin protein ligase binding	Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.
virus receptor activity	Combining with a virus component and mediating entry of the virus into the cell.

61 GO annotations of biological process

Name	Definition
activation of phospholipase A2 activity by calcium-mediated signaling	OBSOLETE. The series of molecular signals that leads to the upregulation of calcium-dependent phospholipase A2 activity in response to the signal.
activation of phospholipase C activity	The initiation of the activity of the inactive enzyme phospolipase C as the result of The series of molecular signals generated as a consequence of a G protein-coupled receptor binding to its physiological ligand.
cell differentiation	The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
cell morphogenesis	The developmental process in which the size or shape of a cell is generated and organized.
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.
cell-cell adhesion	The attachment of one cell to another cell via adhesion molecules.
cellular response to amino acid 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 amino acid stimulus. An amino acid is a carboxylic acids containing one or more amino groups.
cellular response to cadmium ion	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 cadmium (Cd) ion stimulus.
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 estradiol 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 stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen.
cellular response to reactive oxygen species	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 reactive oxygen species stimulus. Reactive oxygen species include singlet oxygen, superoxide, and oxygen free radicals.
cerebral cortex cell migration	The orderly movement of cells from one site to another in the cerebral cortex.
digestive tract morphogenesis	The process in which the anatomical structures of the digestive tract are generated and organized. The digestive tract is the anatomical structure through which food passes and is processed.
embryonic placenta development	The embryonically driven process whose specific outcome is the progression of the placenta over time, from its formation to the mature structure. The placenta is an organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin.
epidermal growth factor receptor signaling pathway	The series of molecular signals initiated by binding of a ligand to the tyrosine kinase receptor EGFR (ERBB1) on the surface of a cell. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
eyelid development in camera-type eye	The progression of the eyelid in a camera-type eye from its formation to the mature state. The eyelid is a membranous cover that helps protect and lubricate the eye.
hair follicle development	The process whose specific outcome is the progression of the hair follicle over time, from its formation to the mature structure. A hair follicle is a tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open.
learning or memory	The acquisition and processing of information and/or the storage and retrieval of this information over time.
morphogenesis of an epithelial fold	The morphogenetic process in which an epithelial sheet bends along a linear axis.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of cardiocyte differentiation	Any process that stops, prevents or reduces the frequency, rate or extent of cardiocyte differentiation.
negative regulation of epidermal growth factor receptor signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of epidermal growth factor receptor signaling pathway activity.
negative regulation of protein catabolic process	Any process that stops, prevents or reduces the frequency, rate or extent of protein catabolic process.
ossification	The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.
peptidyl-tyrosine autophosphorylation	The phosphorylation by a protein of one or more of its own tyrosine amino acid residues, or a tyrosine residue on an identical protein.
peptidyl-tyrosine phosphorylation	The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine.
positive regulation of canonical Wnt signaling pathway	Any process that increases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
positive regulation of cell growth	Any process that activates or increases the frequency, rate, extent or direction of cell growth.
positive regulation of cell migration	Any process that activates or increases the frequency, rate or extent of cell migration.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of cyclin-dependent protein serine/threonine kinase activity	Any process that activates or increases the frequency, rate or extent of CDK activity.
positive regulation of DNA repair	Any process that activates or increases the frequency, rate or extent of DNA repair.
positive regulation of DNA replication	Any process that activates or increases the frequency, rate or extent of DNA replication.
positive regulation of epithelial cell proliferation	Any process that activates or increases the rate or extent of epithelial cell proliferation.
positive regulation of ERK1 and ERK2 cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
positive regulation of fibroblast proliferation	Any process that activates or increases the frequency, rate or extent of multiplication or reproduction of fibroblast cells.
positive regulation of G1/S transition of mitotic cell cycle	Any signalling pathway that increases or activates a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the mitotic cell cycle.
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 NIK/NF-kappaB signaling	Any process that activates or increases the frequency, rate or extent of NIK/NF-kappaB signaling.
positive regulation of nitric oxide mediated signal transduction	Any process that increases the rate, frequency or extent of nitric oxide mediated signal transduction. Nitric oxide mediated signal transduction is The series of molecular signals mediated by the detection of nitric oxide (NO).
positive regulation of peptidyl-serine phosphorylation	Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-serine.
positive regulation of phosphorylation	Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to a molecule.
positive regulation of production of miRNAs involved in gene silencing by miRNA	Any process that activates or increases the frequency, rate or extent of maturation of miRNAs.
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.
positive regulation of protein kinase C activity	Any process that activates or increases the frequency, rate or extent of protein kinase C activity.
positive regulation of protein localization to plasma membrane	Any process that activates or increases the frequency, rate or extent of protein localization to plasma membrane.
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 transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
positive regulation of transcription, DNA-templated	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
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 insertion into membrane	The process that results in the incorporation of a protein into a biological membrane. Incorporation in this context means having some part or covalently attached group that is inserted into the the hydrophobic region of one or both bilayers.
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 JNK cascade	Any process that modulates the frequency, rate or extent of signal transduction mediated by the JNK cascade.
regulation of nitric-oxide synthase activity	Any process that modulates the activity of the enzyme nitric-oxide synthase.
regulation of peptidyl-tyrosine phosphorylation	Any process that modulates the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine.
regulation of phosphatidylinositol 3-kinase signaling	Any process that modulates the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade.
response to UV-A	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 UV-A radiation stimulus. UV-A radiation (UV-A light) spans the wavelengths 315 to 400 nm.
salivary gland morphogenesis	The process in which the anatomical structures of the salivary gland are generated and organized.
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.

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
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
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
P70424	Erbb2	Receptor tyrosine-protein kinase erbB-2	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
Q01279	Egfr	Epidermal growth factor receptor	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
MRPSGTAGAA	LLALLAALCP	ASRALEEKKV	CQGTSNKLTQ	LGTFEDHFLS	LQRMFNNCEV
70	80	90	100	110	120
VLGNLEITYV	QRNYDLSFLK	TIQEVAGYVL	IALNTVERIP	LENLQIIRGN	MYYENSYALA
130	140	150	160	170	180
VLSNYDANKT	GLKELPMRNL	QEILHGAVRF	SNNPALCNVE	SIQWRDIVSS	DFLSNMSMDF
190	200	210	220	230	240
QNHLGSCQKC	DPSCPNGSCW	GAGEENCQKL	TKIICAQQCS	GRCRGKSPSD	CCHNQCAAGC
250	260	270	280	290	300
TGPRESDCLV	CRKFRDEATC	KDTCPPLMLY	NPTTYQMDVN	PEGKYSFGAT	CVKKCPRNYV
310	320	330	340	350	360
VTDHGSCVRA	CGADSYEMEE	DGVRKCKKCE	GPCRKVCNGI	GIGEFKDSLS	INATNIKHFK
370	380	390	400	410	420
NCTSISGDLH	ILPVAFRGDS	FTHTPPLDPQ	ELDILKTVKE	ITGFLLIQAW	PENRTDLHAF
430	440	450	460	470	480
ENLEIIRGRT	KQHGQFSLAV	VSLNITSLGL	RSLKEISDGD	VIISGNKNLC	YANTINWKKL
490	500	510	520	530	540
FGTSGQKTKI	ISNRGENSCK	ATGQVCHALC	SPEGCWGPEP	RDCVSCRNVS	RGRECVDKCN
550	560	570	580	590	600
LLEGEPREFV	ENSECIQCHP	ECLPQAMNIT	CTGRGPDNCI	QCAHYIDGPH	CVKTCPAGVM
610	620	630	640	650	660
GENNTLVWKY	ADAGHVCHLC	HPNCTYGCTG	PGLEGCPTNG	PKIPSIATGM	VGALLLLLVV
670	680	690	700	710	720
ALGIGLFMRR	RHIVRKRTLR	RLLQERELVE	PLTPSGEAPN	QALLRILKET	EFKKIKVLGS
730	740	750	760	770	780
GAFGTVYKGL	WIPEGEKVKI	PVAIKELREA	TSPKANKEIL	DEAYVMASVD	NPHVCRLLGI
790	800	810	820	830	840
CLTSTVQLIT	QLMPFGCLLD	YVREHKDNIG	SQYLLNWCVQ	IAKGMNYLED	RRLVHRDLAA
850	860	870	880	890	900
RNVLVKTPQH	VKITDFGLAK	LLGAEEKEYH	AEGGKVPIKW	MALESILHRI	YTHQSDVWSY
910	920	930	940	950	960
GVTVWELMTF	GSKPYDGIPA	SEISSILEKG	ERLPQPPICT	IDVYMIMVKC	WMIDADSRPK
970	980	990	1000	1010	1020
FRELIIEFSK	MARDPQRYLV	IQGDERMHLP	SPTDSNFYRA	LMDEEDMDDV	VDADEYLIPQ
1030	1040	1050	1060	1070	1080
QGFFSSPSTS	RTPLLSSLSA	TSNNSTVACI	DRNGLQSCPI	KEDSFLQRYS	SDPTGALTED
1090	1100	1110	1120	1130	1140
SIDDTFLPVP	EYINQSVPKR	PAGSVQNPVY	HNQPLNPAPS	RDPHYQDPHS	TAVGNPEYLN
1150	1160	1170	1180	1190	1200
TVQPTCVNST	FDSPAHWAQK	GSHQISLDNP	DYQQDFFPKE	AKPNGIFKGS	TAENAEYLRV

APQSSEFIGA