AiPD: Autoinhibited Protein Database

O95382

Gene name	MAP3K6 (ASK2, MAPKKK6, MEKK6)
Protein name	Mitogen-activated protein kinase kinase kinase 6
Names	EC 2.7.11.25 , Apoptosis signal-regulating kinase 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9064
EC number	2.7.11.25: Protein-serine/threonine kinases
Protein Class

Descriptions

Apoptosis signal-regulating kinases (ASK1-3) are MAP3Ks that trigger cellular responses to redox stress and inflammatory cytokines and play vital roles in innate immunity and viral infection. When activated, ASK1?3 activates JNK and p38 via phosphorylation of MAP2Ks (MKK3/4/6/7). ASK1?3 shares a conserved architecture in which the central kinase domain is flanked on either side by additional domains, and multimeric association appears to be crucial to the activity of these domains. Regulatory factors, such as thioredoxin, associate with the N-terminal thioredoxin-binding domain to negatively regulate activity. Activity can be induced by oxidation, thioredoxin dissociation, or TRAF association (among other stimuli), at which point the activating pleckstrin homology surface becomes available for MAP2K association, activation loop priming, and phosphorylation.

Autoinhibitory domains (AIDs)

58-229 (Thioredoxin-binding domain) SS

Target domain	648-906 (Protein kinase domain)
Relief mechanism	Partner binding, Others
Assay

AID

58-229 (Thioredoxin-binding domain)

Target domain

648-906 (Protein kinase domain)

Relief mechanism

Partner binding (thioredoxin dissociation or TRAF association), Others (Oxidation)

Assay

Accessory elements

789-812 (Activation loop from InterPro)

Target domain	648-906 (Protein kinase domain)
Relief mechanism
Assay

References

Zhang R et al. (2004) "Thioredoxin-2 inhibits mitochondria-located ASK1-mediated apoptosis in a JNK-independent manner", Circulation research, 94, 1483-91

Hatai T et al. (2000) "Execution of apoptosis signal-regulating kinase 1 (ASK1)-induced apoptosis by the mitochondria-dependent caspase activation", The Journal of biological chemistry, 275, 26576-81

Seong HA et al. (2011) "Positive regulation of apoptosis signal-regulating kinase 1 signaling by ZPR9 protein, a zinc finger protein", The Journal of biological chemistry, 286, 31123-35

Maruyama T et al. (2014) "Roquin-2 promotes ubiquitin-mediated degradation of ASK1 to regulate stress responses", Science signaling, 7, ra8

Weijman JF et al. (2017) "Structural basis of autoregulatory scaffolding by apoptosis signal-regulating kinase 1", Proceedings of the National Academy of Sciences of the United States of America, 114, E2096-E2105

Autoinhibited structure

Activated structure

1 structures for O95382

Entry ID	Method	Resolution	Chain	Position	Source
AF-O95382-F1	Predicted				AlphaFoldDB

1447 variants for O95382

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1450544143	4	P>Q		No	TOPMed
rs1317244643	4	P>S		No	TOPMed gnomAD
rs1381872487	6	P>A		No	TOPMed gnomAD
rs1381872487	6	P>S		No	TOPMed gnomAD
rs1411408582	7	R>G		No	Ensembl
rs1571081920	9	G>R		No	TOPMed
rs1386714128	10	A>S		No	TOPMed
rs1443506861	11	E>G		No	TOPMed
rs1243031088	12	R>C		No	TOPMed gnomAD
rs1243031088	12	R>S		No	TOPMed gnomAD
rs2015995596	14	G>S		No	Ensembl
rs1571081864	16	C>R		No	TOPMed
rs1368871028	16	C>Y		No	TOPMed gnomAD
rs2015995288	20	P>L		No	Ensembl
rs2015995288	20	P>Q		No	Ensembl
rs1248849114	22	A>T		No	TOPMed gnomAD
rs1331888540	23	V>M		No	gnomAD
rs980388227	24	A>S		No	Ensembl
rs2015994631	24	A>V		No	Ensembl
rs1322714345	27	R>P		No	TOPMed gnomAD
rs1322714345	27	R>Q		No	TOPMed gnomAD
rs1571081821	27	R>W		No	TOPMed
rs1443781673	28	G>C		No	TOPMed gnomAD
rs1443781673	28	G>R		No	TOPMed gnomAD
rs1443781673	28	G>S		No	TOPMed gnomAD
rs2015993781	29	R>P		No	gnomAD
rs1358852248	29	R>W		No	TOPMed
rs1571081759	30	Q>H		No	Ensembl
rs1280250911	32	A>T		No	TOPMed gnomAD
rs2148063888	33	A>T		No	Ensembl
rs1408888249	33	A>V		No	gnomAD
rs2148063874	34	P>S		No	Ensembl
rs1436046679	35	P>Q		No	gnomAD
rs2015992755	37	R>G		No	TOPMed
rs1327933188	37	R>P		No	TOPMed
rs2015992561	38	G>A		No	gnomAD
rs2015992248	40	A>T		No	gnomAD
rs1385071945	42	S>G		No	TOPMed gnomAD
rs2148063814	42	S>N		No	Ensembl
rs1182134785	42	S>R		No	gnomAD
rs1300941196	43	R>L		No	gnomAD
rs2015991686	44	P>L		No	TOPMed
rs2015991388	47	V>M		No	gnomAD
rs1316525838	48	V>A		No	TOPMed gnomAD
rs1316525838	48	V>G		No	TOPMed gnomAD
rs2015991286	48	V>I		No	TOPMed gnomAD
rs2015991052	49	Y>D		No	TOPMed
rs374577854	50	V>L		No	1000Genomes ExAC TOPMed gnomAD
rs2015990704	52	T>I		No	TOPMed
rs1030391707	53	R>Q		No	TOPMed
rs956095026	53	R>W		No	TOPMed gnomAD
rs1453175855	54	E>D		No	gnomAD
rs2015990098	55	P>Q		No	gnomAD
rs2015989891	56	Q>K		No	TOPMed
rs2015989529	59	L>I		No	gnomAD
rs2015989439	59	L>P		No	Ensembl
rs1490261350	60	E>K		No	TOPMed gnomAD
rs1490261350	60	E>Q		No	TOPMed gnomAD
rs1571081604	61	P>A		No	Ensembl
rs1285029129	61	P>H		No	TOPMed gnomAD
rs1188688226	62	R>G		No	TOPMed gnomAD
rs1448386340	63	E>A		No	TOPMed gnomAD
rs1448386340	63	E>G		No	TOPMed gnomAD
rs1239957581	64	G>E		No	TOPMed gnomAD
rs2015988470	64	G>R		No	TOPMed
rs2015988260	65	T>S		No	TOPMed
rs2015987260	66	E>A		No	Ensembl
rs1347127853	66	E>K		No	TOPMed
rs1347127853	66	E>Q		No	TOPMed
rs2015987169	68	E>K		No	TOPMed
rs2015987061	69	P>A		No	gnomAD
rs2015986956	69	P>L		No	Ensembl
rs2015986956	69	P>Q		No	Ensembl
rs1345492886	71	P>S		No	TOPMed gnomAD
rs1345492886	71	P>T		No	TOPMed gnomAD
rs1557570682	73	R>S		No	Ensembl
rs1436190803	74	C>*		No	TOPMed gnomAD
rs2015986129	74	C>Y		No	1000Genomes gnomAD
rs1159111544	77	E>*		No	TOPMed gnomAD
rs888151536	78	A>V		No	TOPMed gnomAD
rs1431873026	79	C>G		No	Ensembl
rs2015985352	79	C>Y		No	Ensembl
rs779387821	80	A>E		No	ExAC gnomAD
rs1197785287	80	A>T		No	TOPMed gnomAD
rs2015984930	81	Q>L		No	TOPMed
rs2015984347	86	R>Q		No	Ensembl
rs1048033126	87	P>Q		No	TOPMed
rs1344294585	88	P>S		No	TOPMed gnomAD
rs1378777477	89	P>Q		No	gnomAD
rs1378777477	89	P>R		No	gnomAD
rs757649927	89	P>S		No	ExAC TOPMed gnomAD
rs2015983388	91	L>P		No	TOPMed
rs2015982956	95	P>H		No	TOPMed gnomAD
rs1298279684	97	G>R		No	TOPMed gnomAD
rs1324944711	99	L>P		No	gnomAD
rs1386778119	100	E>V		No	gnomAD
rs865810715	102	G>S		No	TOPMed
rs2015981423	103	D>A		No	Ensembl
rs949722308	103	D>N		No	Ensembl
rs2015981303	104	T>N		No	Ensembl
rs2148063386	104	T>P		No	Ensembl
rs1421935356	105	A>V		No	TOPMed gnomAD
rs1381276627	106	A>T		No	gnomAD
rs2015980799	106	A>V		No	gnomAD
rs759159403	107	L>R		No	ExAC TOPMed gnomAD
rs947285063	108	D>N		No	Ensembl
rs2015980201	108	D>V		No	TOPMed
rs991839819	109	A>S		No	TOPMed gnomAD
rs991839819	109	A>T		No	TOPMed gnomAD
rs2015979947	109	A>V		No	gnomAD
TCGA novel	110	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs958646485	111	Y>H		No	TOPMed gnomAD
rs1248597413	111	Y>S		No	TOPMed gnomAD
rs2015979521	112	N>K		No	TOPMed gnomAD
rs2015979267	113	A>G		No	TOPMed
rs988823105	113	A>S		No	TOPMed gnomAD
rs773955306	114	D>N		No	ExAC TOPMed gnomAD
rs2015922473	115	V>E		No	TOPMed
rs2015922580	115	V>M		No	TOPMed
rs1314537210	117	V>G		No	TOPMed gnomAD
rs374645744	119	E>D		No	ESP ExAC TOPMed gnomAD
rs1021301044	119	E>K		No	TOPMed gnomAD
rs765948336	120	V>L		No	ExAC gnomAD
rs151134077	121	S>N		No	ESP ExAC TOPMed gnomAD
rs773042854	121	S>R		No	ExAC TOPMed gnomAD
rs1280438584	122	S>N		No	gnomAD
rs200162751	123	S>L		No	ExAC TOPMed gnomAD
rs1030410255	123	S>P		No	Ensembl
rs200162751	123	S>W		No	ExAC TOPMed gnomAD
COSM4031116 COSM4031115	124	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2015920501	125	V>A		No	Ensembl
rs376186740	126	Q>*		No	gnomAD
rs772294617	127	P>H		No	ExAC TOPMed gnomAD
rs772294617	127	P>L		No	ExAC TOPMed gnomAD
rs745879197	128	S>P		No	ExAC gnomAD
rs1469628036	131	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1335224196	131	Y>H		No	TOPMed gnomAD
COSM4031113 COSM4031114	133	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs570253501	136	R>C		No	1000Genomes ExAC TOPMed gnomAD
rs1418870521	136	R>H		No	gnomAD
rs1418870521	136	R>L		No	gnomAD
rs570253501	136	R>S		No	1000Genomes ExAC TOPMed gnomAD
rs1184901629	139	F>L		No	gnomAD
rs1422402742	141	M>I		No	TOPMed gnomAD
rs2015918541	143	N>D		No	gnomAD
rs2015918318	144	N>S		No	Ensembl
rs1203999897	145	V>M		No	gnomAD
rs1484197591	147	L>F		No	TOPMed gnomAD
rs2015917667	150	Q>*		No	TOPMed gnomAD
rs748713619	151	A>V		No	ExAC gnomAD
rs1271640256	152	D>A		No	gnomAD
rs1038867521	152	D>H		No	TOPMed gnomAD
rs1038867521	152	D>N		No	TOPMed gnomAD
rs1271640256	152	D>V		No	gnomAD
rs1212321835	154	P>A		No	gnomAD
rs1212321835	154	P>S		No	gnomAD
rs1352733736	155	D>E		No	gnomAD
rs2015916849	155	D>N		No	TOPMed
rs1356899612	157	Q>E		No	TOPMed
rs144093155	157	Q>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2015916111	159	L>Q		No	TOPMed
rs765108232	160	R>G		No	ExAC TOPMed gnomAD
rs759155929	160	R>L		No	ExAC gnomAD
COSM184449 rs759155929	160	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated ExAC NCI-TCGA gnomAD
rs765108232	160	R>W		No	ExAC TOPMed gnomAD
rs775975597	161	E>G		No	Ensembl
rs2148060603	161	E>K		No	Ensembl
rs1452223686	162	D>A		No	TOPMed
rs1452223686	162	D>V		No	TOPMed
TCGA novel	164	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1557568618	166	K>E		No	TOPMed
rs1557568618	166	K>Q		No	TOPMed
rs755464747	168	S>L		No	ExAC TOPMed gnomAD
rs755464747	168	S>W		No	ExAC TOPMed gnomAD
rs2015902012	169	D>N		No	TOPMed
rs200087701	170	C>W		No	1000Genomes ExAC TOPMed gnomAD
rs1044652175	170	C>Y		No	Ensembl
rs1429588118	171	V>D		No	gnomAD
rs1429588118	171	V>G		No	gnomAD
COSM1341499 COSM1341500 rs146245417	171	V>I	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs146245417	171	V>L		No	ESP ExAC TOPMed gnomAD
rs2015901366	174	Y>C		No	gnomAD
rs187782003	175	T>K		No	1000Genomes ExAC TOPMed gnomAD
rs1206228212	177	I>F		No	gnomAD
rs777743352	179	Y>C		No	ExAC TOPMed gnomAD
rs2015900771	179	Y>H		No	TOPMed
TCGA novel	180	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2015900183	181	V>A		No	Ensembl
rs1259299003	182	T>A		No	gnomAD
rs755926200	182	T>M		No	ExAC TOPMed gnomAD
rs200955880	183	A>V		No	1000Genomes ExAC gnomAD
rs1231696242	184	T>I		No	gnomAD
rs1170567400	184	T>P		No	Ensembl
rs750281168	185	G>R		No	gnomAD
rs750281168	185	G>S		No	gnomAD
rs750455626 COSM3671708	186	R>L	prostate [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs750455626	186	R>P		No	ExAC TOPMed gnomAD
rs750455626	186	R>Q		No	ExAC TOPMed gnomAD
rs773739522	186	R>W		No	ExAC TOPMed gnomAD
rs527652852	187	V>M		No	1000Genomes ExAC TOPMed gnomAD
rs1286854087	188	L>P		No	gnomAD
COSM907866 rs1557568073	189	C>Y	endometrium [Cosmic]	No	cosmic curated Ensembl
rs1473636672	191	D>A		No	TOPMed gnomAD
rs761988271	192	A>S		No	ExAC TOPMed gnomAD
rs2015897856	193	G>D		No	TOPMed
rs964759745	196	R>L		No	TOPMed gnomAD
COSM358088 rs964759745	196	R>Q	lung [Cosmic]	No	cosmic curated TOPMed gnomAD
rs201426835	196	R>W		No	ExAC TOPMed gnomAD
COSM4857232 COSM464373	197	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1193329431	199	A>V		No	gnomAD
rs2015897138	200	D>E		No	Ensembl
rs41291098	200	D>Y		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1346823813	202	L>V		No	Ensembl
rs1295823501	203	V>A		No	gnomAD
rs202156425	203	V>I		No	ESP ExAC TOPMed gnomAD
rs202156425	203	V>L		No	ESP ExAC TOPMed gnomAD
rs2015896572	204	Q>*		No	Ensembl
rs1183903810	204	Q>H		No	gnomAD
rs772446470	205	A>T		No	ExAC TOPMed gnomAD
rs1262980549	206	G>V		No	gnomAD
RCV000964107 rs182712391	207	V>G		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1251928745	208	G>E		No	gnomAD
rs748974772	209	T>I		No	ExAC
rs1557567839	210	E>K		No	TOPMed
rs1557567839	210	E>Q		No	TOPMed
rs2015894942	211	A>G		No	gnomAD
rs754845175	212	L>P		No	ExAC gnomAD
rs1323472932	214	T>A		No	gnomAD
rs1323472932	214	T>P		No	gnomAD
rs1335896588	215	P>A		No	TOPMed gnomAD
rs1335896588	215	P>T		No	TOPMed gnomAD
rs2015894021	216	L>P		No	Ensembl
rs765331779	217	V>A		No	ExAC gnomAD
rs750552174	217	V>L		No	ExAC TOPMed gnomAD
rs750552174	217	V>M		No	ExAC TOPMed gnomAD
rs764233014	219	R>Q		No	ExAC TOPMed gnomAD
rs192258228	219	R>W		No	1000Genomes ExAC TOPMed gnomAD
rs761087163	220	L>P		No	ExAC gnomAD
rs775697363	221	A>P		No	ExAC TOPMed gnomAD
COSM1560685 COSM1560686	221	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs139204302	222	R>C		No	ExAC TOPMed gnomAD
rs139204302	222	R>G		No	ExAC TOPMed gnomAD
rs759996968	222	R>H		No	ExAC TOPMed gnomAD
rs759996968	222	R>P		No	ExAC TOPMed gnomAD
rs2015891520	226	A>G		No	TOPMed
rs2015891616	226	A>T		No	Ensembl
rs2015891328	228	P>A		No	TOPMed
COSM1584380 COSM907865	230	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	231	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2015891130	231	S>F		No	TOPMed gnomAD
rs1557567562	232	C>S		No	Ensembl
rs746751180	233	G>D		No	ExAC gnomAD
rs749411665	236	R>L		No	ExAC TOPMed gnomAD
rs749411665	236	R>P		No	ExAC TOPMed gnomAD
rs749411665	236	R>Q		No	ExAC TOPMed gnomAD
rs187948606	236	R>W		No	1000Genomes ExAC TOPMed gnomAD
rs1348067318	237	E>K		No	gnomAD
rs1220138313	238	T>I		No	TOPMed gnomAD
rs1557567171	239	I>V		No	Ensembl
rs752879787	240	R>P		No	ExAC TOPMed gnomAD
rs752879787	240	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs756173450	240	R>W		No	ExAC TOPMed gnomAD
rs1348033130	241	R>Q		No	TOPMed gnomAD
rs781412029	241	R>W		No	ExAC TOPMed gnomAD
rs1425175513	242	D>N		No	TOPMed gnomAD
rs554275379	244	R>P		No	1000Genomes ExAC TOPMed gnomAD
rs554275379	244	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs931712271 COSM2236099 COSM2236098	244	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs2015883205	245	Q>P		No	TOPMed
rs779251785	246	A>V		No	ExAC TOPMed gnomAD
rs1026208474	247	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs951943587	247	R>W		No	TOPMed gnomAD
rs2015882576	248	E>V		No	TOPMed
rs373435230	249	R>L		No	ExAC TOPMed gnomAD
rs373435230	249	R>Q		No	ExAC TOPMed gnomAD
rs764675645	249	R>W		No	ExAC TOPMed gnomAD
rs1571077182	250	F>V		No	Ensembl
TCGA novel	251	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2015881749	253	P>S		No	Ensembl
rs760514584	254	Q>*		No	ExAC TOPMed gnomAD
rs760514584	254	Q>E		No	ExAC TOPMed gnomAD
rs982404484	254	Q>L		No	gnomAD
rs1557566973	255	L>Q		No	Ensembl
rs771814936	256	R>L		No	ExAC TOPMed gnomAD
rs771814936	256	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs775236040	256	R>W		No	ExAC TOPMed gnomAD
TCGA novel	258	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2015880687	260	A>T		No	Ensembl
rs745828461	260	A>V		No	ExAC gnomAD
rs369006215	261	R>C		No	ExAC TOPMed gnomAD
rs369006215	261	R>G		No	ExAC TOPMed gnomAD
rs748258000	261	R>H		No	ExAC TOPMed gnomAD
rs1203885492	263	Q>R		No	gnomAD
rs755202909	264	R>L		No	ExAC TOPMed gnomAD
rs755202909	264	R>Q		No	ExAC TOPMed gnomAD
rs144127466	264	R>W		No	ESP ExAC TOPMed gnomAD
rs1215839592	265	R>K		No	gnomAD
rs752008836	265	R>S		No	ExAC gnomAD
rs2015879079	268	S>G		No	TOPMed
rs780593837	268	S>N		No	ExAC TOPMed gnomAD
rs151187784	269	V>G		No	ESP ExAC TOPMed gnomAD
rs758782106	269	V>M		No	ExAC TOPMed gnomAD
rs2015878368	272	L>P		No	TOPMed
rs1453784398	273	S>N		No	gnomAD
rs765707675	274	P>T		No	ExAC gnomAD
rs763696251	275	D>G		No	ExAC gnomAD
rs1418982398	275	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs760353235	276	I>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs999714295	277	I>L		No	TOPMed
rs999714295	277	I>V		No	TOPMed
rs1250219953	280	L>W		No	TOPMed
rs967242632	283	S>F		No	TOPMed gnomAD
rs371513345	285	R>C		No	ESP ExAC TOPMed gnomAD
rs774223414	285	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1307559125	286	D>N		No	gnomAD
rs781297672	287	V>M		No	ExAC gnomAD
rs1362266840	288	Q>*		No	gnomAD
rs1278850791	289	D>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs201523502	291	S>*		No	ESP ExAC TOPMed gnomAD
rs201523502	291	S>L		No	ESP ExAC TOPMed gnomAD
TCGA novel	292	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs772970642	294	I>V		No	ExAC gnomAD
rs2015862004	295	E>D		No	Ensembl
rs1417654221	296	L>P		No	TOPMed gnomAD
rs1161070707	297	V>L		No	gnomAD
rs1161070707	297	V>M		No	gnomAD
rs768866574	299	T>A		No	ExAC TOPMed gnomAD
rs747018492	299	T>M		No	ExAC TOPMed gnomAD
rs779367921	302	A>D		No	ExAC TOPMed gnomAD
rs772408172	302	A>S		No	ExAC gnomAD
rs779367921	302	A>V		No	ExAC TOPMed gnomAD
rs757517058	303	L>F		No	ExAC gnomAD
rs149561747	304	P>A		No	ESP ExAC TOPMed gnomAD
rs755691421	304	P>R		No	ExAC gnomAD
rs149561747	304	P>S		No	ESP ExAC TOPMed gnomAD
rs149561747	304	P>T		No	ESP ExAC TOPMed gnomAD
rs752192244	305	T>A		No	ExAC TOPMed gnomAD
rs369623226	305	T>I		No	ESP ExAC TOPMed gnomAD
rs752192244	305	T>P		No	ExAC TOPMed gnomAD
rs752192244	305	T>S		No	ExAC TOPMed gnomAD
rs754591192	306	C>S		No	ExAC gnomAD
rs762593956	307	D>E		No	ExAC gnomAD
rs560315809	307	D>G		No	1000Genomes ExAC TOPMed gnomAD
rs751129386	307	D>H		No	ExAC TOPMed gnomAD
rs773204555	308	V>M		No	ExAC gnomAD
rs1467851411	309	A>T		No	TOPMed
rs1290359669	309	A>V		No	gnomAD
rs751432601	310	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs751432601	310	E>Q		No	ExAC TOPMed gnomAD
rs2015858674	314	V>L		No	gnomAD
rs746126053	315	C>Y		No	ExAC gnomAD
rs1332356093	317	H>R		No	TOPMed
rs2015858179	318	Y>H		No	Ensembl
rs147459945	320	F>S		No	ESP ExAC gnomAD
rs771331781	321	A>S		No	ExAC TOPMed gnomAD
rs771331781	321	A>T		No	ExAC TOPMed gnomAD
rs1485744825	321	A>V		No	gnomAD
rs1266689238	323	N>S		No	gnomAD
rs778315229	324	R>Q		No	ExAC TOPMed gnomAD
rs749614171	324	R>W		No	ExAC TOPMed gnomAD
rs374013663	325	R>K		No	ESP ExAC gnomAD
rs1271736353	326	N>S		No	TOPMed
TCGA novel	327	R>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1571075214	330	D>A		No	Ensembl
rs763428853	330	D>Y		No	ExAC gnomAD
rs369889760	331	R>P		No	TOPMed gnomAD
rs369889760	331	R>Q		No	TOPMed gnomAD
rs372285117	331	R>W		No	ESP ExAC TOPMed gnomAD
rs748673521	332	A>G		No	1000Genomes ExAC TOPMed gnomAD
rs770101848	332	A>T		No	ExAC gnomAD
rs748673521	332	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs866178216	333	K>Q		No	Ensembl
rs1571075146	333	K>R		No	Ensembl
TCGA novel	333	K>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs368945888	334	A>V		No	ESP ExAC TOPMed gnomAD
rs2015839101	335	L>V		No	TOPMed
rs1457393707	336	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1457393707	336	S>F		No	TOPMed
rs1324977488	336	S>P		No	TOPMed
rs1429629778	337	V>L		No	gnomAD
rs1571075099	338	L>R		No	Ensembl
rs953576957	338	L>V		No	gnomAD
rs2015838007	339	L>P		No	Ensembl
rs2148057611	339	L>V		No	Ensembl
rs201156695	340	P>L		No	1000Genomes ExAC TOPMed gnomAD
rs1165793785	340	P>S		No	TOPMed gnomAD
rs1185665603	341	L>V		No	TOPMed gnomAD
rs1571075045	342	V>G		No	Ensembl
rs1557565374	343	Q>E		No	TOPMed gnomAD
rs1439822443	343	Q>H		No	gnomAD
rs750281142	344	L>F		No	ExAC gnomAD
rs778874854	344	L>P		No	ExAC TOPMed gnomAD
rs2015836517	345	E>G		No	TOPMed gnomAD
rs757061579	345	E>Q		No	ExAC gnomAD
rs374713008	346	G>D		No	ESP ExAC TOPMed gnomAD
rs903881568	348	V>G		No	TOPMed gnomAD
rs141965929	349	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs751573267	350	P>S		No	ExAC gnomAD
rs1003683990	351	D>G		No	Ensembl
rs1397270232	351	D>H		No	TOPMed gnomAD
rs1397270232	351	D>N		No	TOPMed gnomAD
rs1408698853	352	L>V		No	gnomAD
rs1305480925	354	C>R		No	gnomAD
rs777184773	355	M>I		No	ExAC TOPMed gnomAD
rs762095077	355	M>L		No	ExAC TOPMed gnomAD
rs762095077	355	M>V		No	ExAC TOPMed gnomAD
rs1571074840	356	C>G		No	Ensembl
rs769029527	357	G>D		No	ExAC TOPMed gnomAD
rs146411568	358	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1364617693	358	R>H		No	TOPMed gnomAD
rs760735459	362	D>E		No	ExAC gnomAD
rs986868442	362	D>G		No	TOPMed gnomAD
rs371412898	363	M>I		No	ESP ExAC TOPMed gnomAD
rs1437069309	363	M>R		No	TOPMed
rs140381798	363	M>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2015833032	364	F>V		No	TOPMed
rs745531463	367	S>L		No	ExAC TOPMed gnomAD
rs560853902	368	G>A		No	1000Genomes ExAC TOPMed gnomAD
rs560853902	368	G>D		No	1000Genomes ExAC TOPMed gnomAD
rs137982409	372	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs755979006	374	H>Q		No	ExAC gnomAD
rs1264367187	374	H>Y		No	TOPMed
rs150334965 COSM98926	375	R>Q	stomach [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs759869355	375	R>W		No	ExAC TOPMed gnomAD
rs1284697382	376	E>Q		No	TOPMed gnomAD
rs2015831414	378	A>T		No	Ensembl
rs750643341	379	Y>*		No	ExAC gnomAD
rs758412430	379	Y>C		No	ExAC gnomAD
COSM5795507 COSM5795506	380	H>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1258245185	380	H>L		No	TOPMed gnomAD
rs1258245185	380	H>P		No	TOPMed gnomAD
rs2015826660	381	W>C		No	gnomAD
rs983543178	381	W>R		No	TOPMed gnomAD
COSM3487685 rs572742636 COSM3487686	383	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs572742636	383	R>G		No	ExAC gnomAD
rs750486175	383	R>H		No	ExAC TOPMed gnomAD
rs750486175	383	R>L		No	ExAC TOPMed gnomAD
rs1190385480	385	A>T		No	TOPMed
rs757438284	387	D>E		No	ExAC TOPMed gnomAD
rs140079878	388	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM378022 rs140079878	388	V>L	lung [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1481580885	389	E>G		No	TOPMed
rs573216169	389	E>Q		No	1000Genomes gnomAD
rs1335055042	390	P>S		No	gnomAD
rs1463225314	391	S>G		No	gnomAD
rs1051654906	395	G>V		No	TOPMed gnomAD
rs2015824314	397	N>D		No	TOPMed
rs974052669	397	N>S		No	TOPMed gnomAD
rs775928462	398	A>V		No	ExAC TOPMed gnomAD
rs768057893	401	L>F		No	ExAC TOPMed gnomAD
rs1340721779	402	L>F		No	TOPMed gnomAD
rs1340721779	402	L>V		No	TOPMed gnomAD
rs759167316	403	I>T		No	ExAC TOPMed gnomAD
rs2015822667	406	G>E		No	Ensembl
COSM294545 rs536088084	406	G>R	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs536088084	406	G>W		No	1000Genomes ExAC TOPMed gnomAD
rs769477027	407	Q>K		No	ExAC TOPMed gnomAD
rs747967824	408	H>P		No	ExAC gnomAD
rs781046229	408	H>Q		No	ExAC TOPMed gnomAD
rs2015822009	410	E>V		No	TOPMed gnomAD
rs1465406331	411	D>G		No	TOPMed gnomAD
rs1182066501	412	S>C		No	gnomAD
rs1472286324	415	L>P		No	gnomAD
rs778995925	416	R>Q		No	ExAC gnomAD
rs368519117	416	R>W		No	ESP ExAC TOPMed gnomAD
rs754013001	418	I>M		No	ExAC TOPMed gnomAD
TCGA novel	418	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs757901838	419	G>A		No	ExAC gnomAD
rs573728264	422	L>R		No	1000Genomes ExAC gnomAD
rs749923740	422	L>V		No	ExAC gnomAD
rs1160820326	423	G>R		No	gnomAD
rs1457488836	424	C>S		No	TOPMed gnomAD
rs2015803474	425	L>R		No	gnomAD
rs117338947	427	A>V		No	1000Genomes ExAC TOPMed gnomAD
COSM302614 rs776216751	428	R>C	large_intestine central_nervous_system [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs760459543	428	R>H		No	ExAC TOPMed gnomAD
rs760459543	428	R>L		No	ExAC TOPMed gnomAD
rs1311152864	430	G>V		No	TOPMed
rs1447131577	431	C>S		No	TOPMed gnomAD
rs377490412	432	V>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs773374783	433	E>K		No	ExAC gnomAD
rs899812246	435	M>R		No	TOPMed
rs769715780	436	Q>L		No	ExAC gnomAD
rs748419473	439	W>R		No	ExAC
rs1440407766	440	D>A		No	gnomAD
COSM3487682 rs1440407766 COSM3487681	440	D>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs367598241	441	V>E		No	ExAC gnomAD
rs367598241	441	V>G		No	ExAC gnomAD
rs920626034	442	G>V		No	Ensembl
rs2015800769	444	Y>H		No	TOPMed
rs1301886280	445	L>P		No	gnomAD
rs1165188503	445	L>V		No	TOPMed
rs569053731	446	G>E		No	1000Genomes ExAC gnomAD
rs2015800090	447	A>S		No	Ensembl
rs747360207	448	Q>*		No	ExAC gnomAD
rs780753310	448	Q>P		No	ExAC TOPMed gnomAD
rs750854600 COSM4031108 COSM4031107	451	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs764823527	452	N>S		No	ExAC TOPMed gnomAD
rs553114323	453	D>G		No	1000Genomes ExAC gnomAD
rs753492622	454	P>S		No	ExAC gnomAD
rs753492622	454	P>T		No	ExAC gnomAD
rs1431992185	455	T>A		No	TOPMed gnomAD
rs1138294 VAR_032832	455	T>I		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1138294	455	T>N		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2015798646	456	Q>*		No	TOPMed
rs1464569050	457	V>A		No	gnomAD
rs760512695	457	V>M		No	ExAC TOPMed gnomAD
rs775236255	459	L>V		No	ExAC
rs767178993	461	A>T		No	ExAC gnomAD
rs759542995	465	Y>D		No	ExAC TOPMed gnomAD
rs759542995	465	Y>H		No	ExAC TOPMed gnomAD
rs140256282	468	N>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2015797655	468	N>S		No	Ensembl
rs769927074	469	A>V		No	ExAC
rs1232401190	470	P>L		No	TOPMed gnomAD
rs1232401190	470	P>R		No	TOPMed gnomAD
rs748238723	471	I>L		No	ExAC gnomAD
rs1299482062	472	W>R		No	gnomAD
rs1029544561	473	Y>*		No	TOPMed gnomAD
rs2015788717	473	Y>D		No	Ensembl
rs1309157562	475	V>A		No	TOPMed gnomAD
rs1369059519	477	V>L		No	TOPMed gnomAD
rs1369059519	477	V>M		No	TOPMed gnomAD
TCGA novel	479	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1165394324	479	E>K		No	gnomAD
rs1458559637	480	T>N		No	TOPMed gnomAD
rs1458559637	480	T>S		No	TOPMed gnomAD
rs2015787239	481	F>L		No	TOPMed gnomAD
rs776819027	485	Q>*		No	ExAC gnomAD
rs768813486	486	H>L		No	ExAC gnomAD
rs768813486	486	H>P		No	ExAC gnomAD
rs768813486	486	H>R		No	ExAC gnomAD
rs1486323463	487	F>C		No	TOPMed gnomAD
rs2015786386	487	F>V		No	gnomAD
rs573297666	488	R>K		No	Ensembl
rs775515701	488	R>S		No	ExAC gnomAD
rs1272158247	489	P>S		No	gnomAD
rs369834309	490	T>K		No	ESP ExAC TOPMed gnomAD
rs369834309	490	T>M		No	ESP ExAC TOPMed gnomAD
rs1330572544	491	P>L		No	TOPMed gnomAD
rs1330572544	491	P>Q		No	TOPMed gnomAD
rs1242226702	491	P>S		No	gnomAD
rs777288900	493	P>A		No	ExAC TOPMed gnomAD
rs777288900	493	P>T		No	ExAC TOPMed gnomAD
rs755566552	494	P>S		No	ExAC TOPMed gnomAD
rs752353676	498	P>S		No	ExAC TOPMed gnomAD
VAR_046050 RCV000955691 rs11247641	499	R>C		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs754114751	499	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs754864528	500	R>C		No	ExAC TOPMed gnomAD
rs751286317	500	R>H		No	ExAC TOPMed gnomAD
rs751286317	500	R>L		No	ExAC TOPMed gnomAD
rs751286317	500	R>P		No	ExAC TOPMed gnomAD
rs1412748709	501	A>V		No	gnomAD
rs766375611	502	H>P		No	ExAC gnomAD
rs1437126211	504	W>*		No	TOPMed gnomAD
rs1437126211	504	W>C		No	TOPMed gnomAD
rs1231113010	504	W>R		No	gnomAD
rs764280914	508	L>F		No	ExAC TOPMed gnomAD
rs2015781804	511	S>F		No	Ensembl
rs2015781682	512	C>Y		No	TOPMed
rs1330806235	513	Q>R		No	gnomAD
rs371214094	514	P>L		No	ESP ExAC TOPMed gnomAD
rs371214094	514	P>Q		No	ESP ExAC TOPMed gnomAD
rs371214094	514	P>R		No	ESP ExAC TOPMed gnomAD
rs774611641	515	F>L		No	ExAC gnomAD
rs759985952	515	F>L		No	ExAC TOPMed gnomAD
rs1316727926	515	F>Y		No	gnomAD
rs1212855749	522	G>D		No	TOPMed gnomAD
rs747602756	523	D>E		No	ExAC gnomAD
rs2015779928	523	D>G		No	gnomAD
rs139722854	523	D>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs139722854	523	D>N		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1297129575	527	V>L		No	gnomAD
rs1297129575	527	V>M		No	gnomAD
rs1334961566	528	L>P		No	TOPMed gnomAD
rs1414919830	531	E>K		No	gnomAD
rs760862367	532	M>I		No	Ensembl
rs763305935	532	M>R		No	ExAC gnomAD
rs773769667	534	K>E		No	ExAC
rs1255995564	534	K>N		No	TOPMed
rs747730006	535	V>A		No	ExAC gnomAD
rs201907883	535	V>L		No	ExAC TOPMed gnomAD
rs201907883	535	V>M		No	ExAC TOPMed gnomAD
rs370120193	537	L>V		No	ESP ExAC TOPMed
rs2015773395	538	P>T		No	TOPMed
rs768160382	539	A>T		No	ExAC gnomAD
rs922440117	542	E>K		No	TOPMed gnomAD
rs1278810542	542	E>V		No	TOPMed gnomAD
rs55671988	544	R>G		No	ExAC TOPMed gnomAD
rs146356865	544	R>Q		No	ESP ExAC TOPMed gnomAD
VAR_046051 rs55671988	544	R>W		No	UniProt ExAC TOPMed dbSNP gnomAD
rs745644228	545	G>D		No	ExAC gnomAD
rs1274417211	545	G>S		No	gnomAD
rs2015771986	547	D>E		No	TOPMed
rs2015771851	548	P>S		No	TOPMed
rs779034227	550	S>R		No	ExAC TOPMed gnomAD
TCGA novel	551	T>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2015771355	552	V>G		No	TOPMed
rs753761341	553	T>N		No	ExAC gnomAD
rs2015770628	555	S>N		No	gnomAD
rs2015770743	555	S>R		No	TOPMed
rs377223592	556	L>P		No	ESP ExAC TOPMed gnomAD
rs137930350	556	L>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1367974629	557	L>P		No	TOPMed gnomAD
rs2148055132	559	P>A		No	Ensembl
rs780290839	565	P>A		No	1000Genomes ExAC TOPMed gnomAD
rs2015763929	565	P>L		No	gnomAD
rs780290839	565	P>S		No	1000Genomes ExAC TOPMed gnomAD
rs2015763813	566	S>C		No	Ensembl
rs373454472	573	A>S		No	ESP ExAC TOPMed gnomAD
rs373454472	573	A>T		No	ESP ExAC TOPMed gnomAD
rs922471155	576	C>G		No	Ensembl
rs922471155	576	C>S		No	Ensembl
rs146979757	577	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs147903007	578	V>D		No	ESP ExAC TOPMed gnomAD
TCGA novel	578	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs374727579	579	S>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs773086020	580	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1373244921	580	A>V		No	TOPMed gnomAD
rs1392474979	581	S>*		No	gnomAD
rs1449132165	582	K>M		No	gnomAD
rs1259680267	583	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs149168001	583	R>H		No	ESP TOPMed gnomAD
rs149168001	583	R>L		No	ESP TOPMed gnomAD
rs149168001	583	R>P		No	ESP TOPMed gnomAD
rs200374785	584	D>E		No	1000Genomes ExAC TOPMed gnomAD
rs573106470	584	D>H		No	1000Genomes ExAC gnomAD
rs573106470	584	D>N		No	1000Genomes ExAC gnomAD
rs573106470	584	D>Y		No	1000Genomes ExAC gnomAD
rs1276556039	585	E>D		No	gnomAD
rs1344778958	585	E>G		No	TOPMed gnomAD
rs779053962	585	E>K		No	ExAC TOPMed gnomAD
rs779053962	585	E>Q		No	ExAC TOPMed gnomAD
rs757470650	586	R>G		No	ExAC gnomAD
rs752588276	586	R>H		No	Ensembl
rs752588276	586	R>L		No	Ensembl
rs778212219	588	C>S		No	ExAC TOPMed gnomAD
rs778212219	588	C>Y		No	ExAC TOPMed gnomAD
rs756479257	590	L>R		No	ExAC TOPMed gnomAD
rs537845841	591	Y>C		No	TOPMed gnomAD
rs537845841	591	Y>F		No	TOPMed gnomAD
rs537845841	591	Y>S		No	TOPMed gnomAD
rs1312784911	592	A>V		No	TOPMed gnomAD
rs1372760826	593	L>I		No	gnomAD
rs2015753661	593	L>R		No	Ensembl
rs145165321	594	P>L		No	ESP ExAC TOPMed gnomAD
rs145165321	594	P>R		No	ESP ExAC TOPMed gnomAD
rs1429278684	594	P>S		No	gnomAD
rs1215569501	595	P>A		No	Ensembl
rs139401154	595	P>L		No	ESP ExAC TOPMed gnomAD
rs139401154	595	P>Q		No	ESP ExAC TOPMed gnomAD
rs139401154	595	P>R		No	ESP ExAC TOPMed gnomAD
rs761594049	597	Q>*		No	ExAC gnomAD
rs745988810	599	V>A		No	ExAC TOPMed gnomAD
rs745988810	599	V>G		No	ExAC TOPMed gnomAD
rs768560281	599	V>I		No	ExAC gnomAD
rs774521273	601	L>R		No	ExAC gnomAD
rs371872831	602	C>Y		No	ESP ExAC gnomAD
rs777852801	604	P>L		No	ExAC gnomAD
rs370302734	604	P>S		No	ESP ExAC TOPMed gnomAD
rs886486756	605	S>G		No	TOPMed
rs1391170874	605	S>I		No	gnomAD
rs748498714	605	S>R		No	ExAC TOPMed gnomAD
rs769366132	606	V>A		No	ExAC TOPMed gnomAD
rs755569477	606	V>I		No	ExAC TOPMed gnomAD
rs755569477	606	V>L		No	ExAC TOPMed gnomAD
rs2015748736	608	H>Q		No	TOPMed
rs1233929116	608	H>Y		No	TOPMed gnomAD
rs745332961	609	C>S		No	TOPMed gnomAD
rs1447200252	609	C>W		No	TOPMed gnomAD
rs765930975	610	Q>*		No	ExAC TOPMed gnomAD
rs765930975	610	Q>E		No	ExAC TOPMed gnomAD
rs1242140872	614	G>S		No	gnomAD
COSM6126210 COSM6126211	616	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs551475266	616	I>V		No	1000Genomes ExAC gnomAD
rs1278680038	617	Q>H		No	TOPMed gnomAD
rs528199363	617	Q>R		No	1000Genomes ExAC gnomAD
rs201360048	618	A>T		No	ExAC TOPMed gnomAD
rs908378969	619	W>S		No	Ensembl
rs1163519766	621	T>K		No	TOPMed gnomAD
rs1163519766	621	T>M		No	TOPMed gnomAD
CA713590 RCV000455382 rs35659744 VAR_032833	622	N>K		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2148054039	622	N>S		No	Ensembl
rs959991153	623	P>L		No	TOPMed gnomAD
rs959991153	623	P>Q		No	TOPMed gnomAD
TCGA novel	627	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1415369165	628	P>L		No	gnomAD
rs1171552046	630	E>K		No	gnomAD
rs2015737951	631	E>D		No	Ensembl
rs1431193473	632	A>V		No	TOPMed gnomAD
rs1419796560	633	E>G		No	gnomAD
COSM3984947 COSM3984948	633	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2015737467	634	G>D		No	TOPMed gnomAD
rs776930162	634	G>S		No	ExAC TOPMed gnomAD
rs2148053971 TCGA novel	635	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs747324627	636	G>R		No	ExAC gnomAD
rs747324627	636	G>W		No	ExAC gnomAD
TCGA novel	637	E>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1440763241	638	M>I		No	gnomAD
rs1189215713	638	M>L		No	TOPMed gnomAD
rs369875096	640	E>D		No	ESP ExAC TOPMed gnomAD
rs755749790	641	F>L		No	ExAC TOPMed gnomAD
rs2015730971	641	F>S		No	Ensembl
TCGA novel	642	D>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2015730708	642	D>N		No	TOPMed
TCGA novel	642	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs371702909	643	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs747785076	643	Y>H		No	ExAC TOPMed gnomAD
rs747785076	643	Y>N		No	ExAC TOPMed gnomAD
rs754731744	644	E>G		No	ExAC TOPMed gnomAD
rs754731744	644	E>V		No	ExAC TOPMed gnomAD
rs956506212	645	Y>F		No	TOPMed
rs2015729782	645	Y>N		No	Ensembl
rs1030541355	646	T>M		No	TOPMed gnomAD
rs1030541355	646	T>R		No	TOPMed gnomAD
rs200851128	647	E>D		No	ESP ExAC TOPMed gnomAD
rs2015728798	648	T>K		No	TOPMed
rs2015728917	648	T>S		No	Ensembl
rs1467167895	649	G>D		No	gnomAD
rs2015727977	651	R>L		No	gnomAD
TCGA novel	651	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1217798031 COSM1214446	651	R>W	large_intestine [Cosmic]	No	cosmic curated gnomAD
rs1317458277	652	L>P		No	TOPMed gnomAD
rs1212159343	652	L>V		No	gnomAD
rs764195370	653	V>A		No	ExAC gnomAD
rs764195370	653	V>G		No	ExAC gnomAD
rs1283209574	653	V>L		No	gnomAD
rs767778191	654	L>P		No	ExAC gnomAD
rs775723698	654	L>V		No	ExAC
rs1303667321	655	G>S		No	gnomAD
rs2015724411	656	K>R		No	Ensembl
rs759880853	657	G>S		No	ExAC gnomAD
rs563940711	658	T>K		No	1000Genomes ExAC TOPMed gnomAD
rs563940711	658	T>M		No	1000Genomes ExAC TOPMed gnomAD
rs563940711	658	T>R		No	1000Genomes ExAC TOPMed gnomAD
rs1454711371	659	Y>*		No	gnomAD
rs2015723822	659	Y>C		No	Ensembl
rs375421637	660	G>E		No	Ensembl
rs2015723532	660	G>R		No	TOPMed
rs922329900	661	V>G		No	Ensembl
rs772617715	661	V>M		No	ExAC gnomAD
rs2015722783	662	V>L		No	TOPMed gnomAD
rs747757373	663	Y>N		No	ExAC gnomAD
rs2015722505	664	A>S		No	TOPMed gnomAD
rs2015722118	666	R>S		No	TOPMed
rs2015721803	667	D>N		No	Ensembl
rs55869163	668	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD
VAR_046052 rs55869163	668	R>G		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs148643990	669	H>R		No	ESP ExAC TOPMed gnomAD
rs2015721480	669	H>Y		No	Ensembl
rs1441041788	670	T>K		No	gnomAD
rs1187188439	671	R>K		No	gnomAD
rs1187188439	671	R>M		No	gnomAD
rs2015720268	673	R>C		No	Ensembl
COSM2236033 COSM2236032	673	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
VAR_046053 rs56359841	673	R>L		No	UniProt ExAC TOPMed dbSNP gnomAD
rs1349750933	674	I>V		No	TOPMed gnomAD
rs1233051817	675	A>T		No	gnomAD
rs536104398	676	I>M		No	TOPMed gnomAD
TCGA novel	676	I>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs573328255	676	I>V		No	1000Genomes ExAC TOPMed gnomAD
rs1323490902	677	K>R		No	TOPMed gnomAD
rs374237817	678	E>D		No	ESP ExAC TOPMed gnomAD
rs752918819	680	P>L		No	ExAC gnomAD
rs752918819	680	P>R		No	ExAC gnomAD
rs2015718889	680	P>T		No	gnomAD
rs888314478	682	R>G		No	TOPMed gnomAD
rs372596065	682	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	682	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1173418163	683	D>N		No	gnomAD
rs1173418163	683	D>Y		No	gnomAD
rs920964682	684	S>G		No	gnomAD
rs1345638791	685	R>M		No	gnomAD
rs771937170	685	R>S		No	ExAC TOPMed gnomAD
rs533065437	686	F>L		No	1000Genomes ExAC gnomAD
rs1026695764	687	S>C		No	TOPMed
rs2015701913	689	P>A		No	TOPMed gnomAD
rs1571068613	689	P>H		No	TOPMed
rs1571068613	689	P>L		No	TOPMed
rs2015701913	689	P>T		No	TOPMed gnomAD
rs2015701398	691	H>L		No	TOPMed
rs755211687	692	E>D		No	ExAC gnomAD
rs752790523	692	E>K		No	ExAC gnomAD
rs199900055	692	E>V		No	1000Genomes ExAC TOPMed gnomAD
COSM4168533 rs2015700834 COSM4168534	693	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed
rs751719605	694	I>F		No	ExAC TOPMed gnomAD
rs763295997	695	A>T		No	ExAC TOPMed gnomAD
rs1252546926	695	A>V		No	TOPMed gnomAD
rs1281242877	697	H>Y		No	TOPMed
rs2015700028	699	R>H		No	Ensembl
rs750953368	699	R>S		No	ExAC gnomAD
rs765756520	702	H>R		No	ExAC TOPMed gnomAD
rs2015699469	706	V>G		No	Ensembl
rs534064454	707	R>P		No	Ensembl
rs1308194532	708	Y>H		No	gnomAD
rs2015699124	709	L>P		No	Ensembl
TCGA novel	713	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs866866512	713	S>R		No	gnomAD
rs1394616972	715	G>S		No	TOPMed gnomAD
rs2015698312	716	G>S		No	TOPMed
rs2015698202	719	K>E		No	Ensembl
rs760419529	722	M>T		No	ExAC TOPMed gnomAD
rs1448751958	724	E>D		No	gnomAD
rs2015697642	724	E>G		No	TOPMed
rs745653596	727	G>A		No	ExAC TOPMed gnomAD
rs745653596	727	G>E		No	ExAC TOPMed gnomAD
rs749249562	728	G>A		No	1000Genomes ExAC gnomAD
rs768779064	731	S>F		No	ExAC TOPMed gnomAD
rs1301829917	732	S>F		No	TOPMed
rs758682383	735	R>Q		No	ExAC TOPMed gnomAD
rs780297206	735	R>W		No	ExAC TOPMed gnomAD
rs779349766	737	V>G		No	ExAC gnomAD
rs746032862	737	V>L		No	ExAC gnomAD
rs2015684906	739	G>E		No	gnomAD
rs2015685015	739	G>R		No	gnomAD
rs138197184	740	P>A		No	ESP ExAC TOPMed gnomAD
rs1571067859	740	P>L		No	Ensembl
rs138197184	740	P>S		No	ESP ExAC TOPMed gnomAD
rs1451400792	743	D>E		No	TOPMed gnomAD
rs755723734	744	N>K		No	ExAC TOPMed gnomAD
rs1193052099	745	E>K		No	gnomAD
rs1479047497	746	S>G		No	TOPMed gnomAD
rs1571067799	747	T>P		No	Ensembl
rs1212034952	748	I>N		No	gnomAD
rs759240104	750	F>V		No	ExAC gnomAD
rs2015682533	751	Y>H		No	Ensembl
rs1216584649	751	Y>S		No	TOPMed gnomAD
rs778885198	752	T>P		No	ExAC gnomAD
rs766258996	753	R>C		No	ExAC TOPMed gnomAD
rs1226535427	753	R>H		No	gnomAD
rs1226535427	753	R>P		No	gnomAD
rs766258996	753	R>S		No	ExAC TOPMed gnomAD
rs762640731	754	Q>*		No	ExAC gnomAD
rs773180139	754	Q>H		No	ExAC gnomAD
rs2015681646	754	Q>R		No	TOPMed
rs2015681296	756	L>P		No	Ensembl
rs905799214	757	Q>K		No	TOPMed
rs769691607	759	L>F		No	ExAC TOPMed gnomAD
rs769691607	759	L>I		No	ExAC TOPMed gnomAD
rs748039865	759	L>P		No	ExAC TOPMed gnomAD
rs2015680460	760	G>D		No	gnomAD
rs2015680568	760	G>R		No	TOPMed gnomAD
rs1044299993	761	Y>*		No	TOPMed
rs775573751	762	L>F		No	ExAC TOPMed gnomAD
rs746107468	763	H>Q		No	ExAC TOPMed gnomAD
rs1343080695	763	H>Y		No	TOPMed gnomAD
rs778998677	764	D>N		No	ExAC gnomAD
rs749649390	766	H>N		No	ExAC TOPMed gnomAD
rs778241376	766	H>R		No	ExAC gnomAD
rs749649390	766	H>Y		No	ExAC TOPMed gnomAD
rs756708463	767	I>V		No	ExAC gnomAD
rs1300607813	768	V>M		No	TOPMed gnomAD
rs2015678438	769	H>Q		No	Ensembl
rs1236112850	769	H>R		No	gnomAD
rs1435350339	771	D>Y		No	gnomAD
rs140977356	772	I>R		No	ESP ExAC TOPMed
rs780756684	773	K>T		No	ExAC TOPMed gnomAD
rs1040402172	774	G>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs2148051175	774	G>R		No	Ensembl
rs1571066921	775	D>G		No	Ensembl
rs750999808	776	N>S		No	ExAC gnomAD
rs1357728773	777	V>M		No	TOPMed
rs2015663494	784	G>R		No	TOPMed
rs1348644258	787	K>E		No	TOPMed gnomAD
rs2015662020	787	K>N		No	TOPMed
rs377529270	788	I>N		No	ESP gnomAD
rs377529270	788	I>T		No	ESP gnomAD
rs776342468	790	D>E		No	gnomAD
rs199773217	790	D>G		No	1000Genomes ExAC TOPMed gnomAD
rs1253642300	792	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs369175337	792	G>S		No	ESP ExAC TOPMed gnomAD
rs761593683	793	T>I		No	ExAC TOPMed gnomAD
rs761593683	793	T>N		No	ExAC TOPMed gnomAD
rs753872550	795	K>E		No	ExAC gnomAD
rs763917632	796	R>G		No	ExAC TOPMed gnomAD
rs759702469	796	R>Q		No	ExAC TOPMed gnomAD
rs763917632	796	R>W		No	ExAC TOPMed gnomAD
rs1158984795	797	L>V		No	TOPMed
rs1285064880	798	A>E		No	gnomAD
TCGA novel	798	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1285064880	798	A>V		No	gnomAD
rs1237430974	799	G>S		No	gnomAD
rs1421311352	799	G>V		No	TOPMed gnomAD
rs371902231	800	I>F		No	ESP ExAC TOPMed gnomAD
rs371902231	800	I>V		No	ESP ExAC TOPMed gnomAD
rs1218118397	801	T>P		No	gnomAD
rs1180656824	804	T>S		No	TOPMed
rs763272163	809	G>R		No	ExAC gnomAD
rs2015641758	809	G>V		No	Ensembl
rs763899856	814	M>T		No	ExAC gnomAD
COSM907862	816	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs143650267	819	I>T		No	ESP ExAC TOPMed gnomAD
rs752612742	821	Q>*		No	ExAC TOPMed gnomAD
rs550309860 COSM296849	822	G>D	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs2015640853	823	P>T		No	TOPMed
rs1171225719	824	R>C		No	TOPMed gnomAD
rs763107573	824	R>H		No	ExAC TOPMed gnomAD
rs1171225719	824	R>S		No	TOPMed gnomAD
COSM3934659 rs1191484843	825	G>R	oesophagus [Cosmic]	No	cosmic curated TOPMed gnomAD
rs1191484843	825	G>W		No	TOPMed gnomAD
rs2015640019	826	Y>C		No	TOPMed gnomAD
rs201488958	832	I>V		No	gnomAD
rs2015639786	833	W>*		No	gnomAD
rs1021985071	834	S>A		No	Ensembl
rs2015639567	834	S>L		No	gnomAD
rs2015639335	835	L>M		No	TOPMed
rs372486216	840	I>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2148050105 COSM907861 COSM1584383	841	E>*	Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs747479862	842	M>I		No	ExAC gnomAD
rs1030134859	842	M>R		No	TOPMed
rs750663560	844	T>A		No	TOPMed gnomAD
rs750663560	844	T>S		No	TOPMed gnomAD
rs1256680234	845	G>C		No	gnomAD
rs146598623 COSM3865222 COSM3865221	846	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
COSM1257287 rs771628864	846	R>H	oesophagus [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1394440303	847	P>A		No	TOPMed gnomAD
rs778577257	847	P>L		No	ExAC TOPMed gnomAD
rs2015637219	848	P>A		No	TOPMed
rs756936186	848	P>H		No	ExAC TOPMed gnomAD
rs756936186	848	P>L		No	ExAC TOPMed gnomAD
RCV000993965 rs34008139	849	F>missing		No	ClinVar dbSNP
rs34008139 COSM1473835 COSM1473834 COSM48936	849	F>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs34008139	849	F>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs368457279	850	H>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1186587328	851	E>D		No	TOPMed gnomAD
rs1418234847	851	E>G		No	gnomAD
rs1462971853	851	E>K		No	TOPMed gnomAD
rs139507949	853	G>R		No	ESP ExAC TOPMed gnomAD
rs767535805	855	P>Q		No	ExAC gnomAD
rs1407309111	856	Q>*		No	TOPMed gnomAD
rs1177190403	856	Q>P		No	TOPMed
rs758587613	857	A>D		No	ExAC gnomAD
COSM3369672 COSM3369673	861	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs750559123	861	Q>H		No	ExAC gnomAD
rs1478053330	864	M>K		No	TOPMed gnomAD
rs774833523	864	M>L		No	ExAC gnomAD
rs1478053330	864	M>R		No	TOPMed gnomAD
rs1478053330	864	M>T		No	TOPMed gnomAD
rs762501726	869	P>L		No	ExAC TOPMed gnomAD
VAR_035629	869	P>T	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
rs1282714805	871	M>I		No	TOPMed gnomAD
rs769513573	871	M>V		No	ExAC TOPMed gnomAD
rs781150055	873	S>I		No	ExAC TOPMed gnomAD
rs781150055	873	S>N		No	ExAC TOPMed gnomAD
rs781150055	873	S>T		No	ExAC TOPMed gnomAD
rs1298400284	875	L>P		No	TOPMed
rs1344336702	876	S>L		No	TOPMed gnomAD
rs147355576	878	E>*		No	ESP ExAC TOPMed gnomAD
rs147355576	878	E>K		No	ESP ExAC TOPMed gnomAD
rs147355576	878	E>Q		No	ESP ExAC TOPMed gnomAD
rs757330988	879	A>D		No	ExAC gnomAD
TCGA novel	879	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1454826852	879	A>T		No	TOPMed gnomAD
rs757330988	879	A>V		No	ExAC gnomAD
rs1571065011	880	Q>P		No	Ensembl
rs1358430672	881	A>D		No	gnomAD
rs1358430672	881	A>V		No	gnomAD
rs1314292710	882	F>S		No	gnomAD
rs142859276	885	R>*		No	1000Genomes ESP ExAC TOPMed gnomAD
rs370565326	885	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs370565326	885	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs143122109	886	T>I		No	ESP ExAC TOPMed gnomAD
rs143122109	886	T>S		No	ESP ExAC TOPMed gnomAD
TCGA novel	888	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs767934544	888	E>K		No	ExAC gnomAD
rs1571064930	890	D>A		No	Ensembl
rs2015625222	891	P>L		No	TOPMed
rs1030187118	891	P>S		No	TOPMed
rs752108475	892	R>C		No	ExAC TOPMed gnomAD
rs138211901	892	R>H		No	ESP ExAC TOPMed gnomAD
rs138211901	892	R>P		No	ESP ExAC TOPMed gnomAD
COSM426016 rs140615374	894	R>*	Variant assessed as Somatic; HIGH impact. breast [NCI-TCGA, Cosmic]	No	cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1442062580	894	R>Q		No	TOPMed gnomAD
rs1276850306	895	A>P		No	gnomAD
rs772798450	895	A>V		No	ExAC
rs763441636	897	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1294920751	902	G>A		No	gnomAD
rs768633599	902	G>R		No	ExAC gnomAD
rs1571064806	903	D>A		No	Ensembl
rs746783370	903	D>E		No	ExAC TOPMed gnomAD
rs2015623158	903	D>N		No	TOPMed
rs553500424	904	P>R		No	1000Genomes
rs576384953	904	P>T		No	1000Genomes
rs1419151226	906	L>Q		No	gnomAD
rs1339508604	907	Q>*		No	gnomAD
rs775329754	908	P>S		No	ExAC gnomAD
rs772079491	912	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed
rs376352782	913	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs114560243	913	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1571064702	914	S>I		No	Ensembl
rs568311916	915	P>L		No	1000Genomes ExAC gnomAD
rs1273464246	915	P>S		No	gnomAD
rs781369595	916	S>R		No	ExAC gnomAD
rs758955466	919	R>*		No	ExAC TOPMed gnomAD
rs758955466	919	R>G		No	ExAC TOPMed gnomAD
rs750826276	919	R>Q		No	ExAC TOPMed gnomAD
COSM1214439 rs1292023678	923	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs374796272	923	R>W		No	ESP ExAC TOPMed gnomAD
rs1228664604	924	P>H		No	TOPMed gnomAD
rs897389484	924	P>T		No	Ensembl
rs2015619228	925	S>*		No	Ensembl
rs1355445777	925	S>A		No	gnomAD
VAR_046054	925	S>L	a breast pleomorphic lobular carcinoma sample; somatic mutation [UniProt]	No	UniProt
rs2148049245	926	D>G		No	Ensembl
rs2015614956	927	A>V		No	TOPMed
COSM4857966 COSM464372	929	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs763652659	929	S>P		No	ExAC gnomAD
rs1320701989	930	A>T		No	TOPMed gnomAD
rs533474638	930	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs759226425	931	S>R		No	ExAC gnomAD
rs770882640	932	P>H		No	ExAC TOPMed gnomAD
rs770882640	932	P>L		No	ExAC TOPMed gnomAD
rs1157138285	932	P>S		No	TOPMed gnomAD
rs762827968	933	T>I		No	ExAC TOPMed gnomAD
rs2148049213	933	T>S		No	Ensembl
rs2015612354	934	P>L		No	TOPMed
rs776703876	934	P>S		No	ExAC gnomAD
rs1477658321	935	S>L		No	TOPMed gnomAD
rs768654478	937	N>K		No	ExAC TOPMed gnomAD
TCGA novel	938	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs923211096	938	S>T		No	Ensembl
rs144234494	939	T>A		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1267158095	939	T>N		No	gnomAD
rs2148049176	940	T>A		No	Ensembl
rs1488520259	940	T>I		No	gnomAD
rs1284829008	942	S>F		No	TOPMed gnomAD
rs547519682	944	T>I		No	1000Genomes ExAC gnomAD
rs141787524	946	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs141787524	946	P>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs754342661	949	Q>*		No	ExAC gnomAD
rs754342661	949	Q>E		No	ExAC gnomAD
rs1360339915	949	Q>R		No	gnomAD
rs777429237	950	A>P		No	ExAC TOPMed gnomAD
rs777429237	950	A>S		No	ExAC TOPMed gnomAD
rs777429237	950	A>T		No	ExAC TOPMed gnomAD
rs1436843883	950	A>V		No	gnomAD
rs1359744970	951	P>T		No	gnomAD
rs1571064136	954	H>P		No	Ensembl
rs1221663787	955	P>L		No	TOPMed gnomAD
rs1221663787	955	P>Q		No	TOPMed gnomAD
rs1175441069	956	P>L		No	gnomAD
COSM1320231 COSM1320232	956	P>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1007395769	957	S>G		No	Ensembl
TCGA novel	957	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs562280320	957	S>R		No	1000Genomes ExAC TOPMed gnomAD
rs75893867 COSM99077	958	P>T	stomach [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs767042366	959	P>L		No	ExAC TOPMed gnomAD
rs767042366	959	P>R		No	ExAC TOPMed gnomAD
TCGA novel	959	P>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM132725 rs201384950	961	R>C	central_nervous_system [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs749232532	961	R>H		No	ExAC TOPMed gnomAD
rs201384950	961	R>S		No	1000Genomes ExAC TOPMed gnomAD
rs768784989	964	S>G		No	ExAC TOPMed gnomAD
rs1237979356	964	S>N		No	TOPMed gnomAD
rs1219820507	965	Y>*		No	gnomAD
rs369121933	965	Y>C		No	ESP ExAC TOPMed gnomAD
rs369121933	965	Y>F		No	ESP ExAC TOPMed gnomAD
rs1309982167	965	Y>H		No	gnomAD
rs376898868	967	G>A		No	ESP ExAC TOPMed gnomAD
COSM1502559 rs376898868	967	G>D	lung [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs775821876	967	G>S		No	ExAC gnomAD
VAR_046055	968	T>I	an ovarian endometrioid cancer sample; somatic mutation [UniProt]	No	UniProt
rs779437808	968	T>P		No	ExAC gnomAD
rs771358503	969	S>G		No	ExAC
rs17856498 VAR_032834	969	S>N		No	UniProt dbSNP gnomAD
rs143487336 COSM1195675	972	R>Q	lung [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1356383886	972	R>W		No	TOPMed gnomAD
rs1310339880	973	V>M		No	gnomAD
rs749636819	974	P>L		No	ExAC gnomAD
rs1050401608	974	P>S		No	TOPMed gnomAD
rs1050401608	974	P>T		No	TOPMed gnomAD
rs2015593246	975	E>D		No	gnomAD
rs748630019	975	E>K		No	ExAC TOPMed gnomAD
COSM3487675 COSM3487676 rs1292738208	976	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs780571774	978	A>V		No	ExAC gnomAD
rs1361583222	979	A>V		No	gnomAD
rs779660765	980	E>K		No	ExAC TOPMed gnomAD
rs2015592185	981	E>D		No	Ensembl
rs934392158	981	E>K		No	TOPMed gnomAD
rs934392158	981	E>Q		No	TOPMed gnomAD
rs539936762	982	P>A		No	1000Genomes ExAC TOPMed gnomAD
rs200110225	982	P>R		No	ESP ExAC TOPMed gnomAD
rs539936762	982	P>S		No	1000Genomes ExAC TOPMed gnomAD
rs539936762	982	P>T		No	1000Genomes ExAC TOPMed gnomAD
rs973831914	983	A>E		No	TOPMed gnomAD
rs2015591748	983	A>T		No	Ensembl
rs973831914	983	A>V		No	TOPMed gnomAD
rs2015591233	984	S>A		No	TOPMed
rs148022982	985	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs868768780	985	P>S		No	Ensembl
rs1557556616	986	E>D		No	Ensembl
rs1276708118	986	E>K		No	gnomAD
rs1331610155	988	S>N		No	TOPMed gnomAD
rs1331610155	988	S>T		No	TOPMed gnomAD
rs753746821	989	S>L		No	ExAC gnomAD
rs753746821	989	S>W		No	ExAC gnomAD
rs1298373117	990	G>E		No	gnomAD
rs759677393	992	S>I		No	ExAC gnomAD
rs759677393	992	S>N		No	ExAC gnomAD
rs547755170	992	S>R		No	1000Genomes ExAC TOPMed gnomAD
rs2015588819	995	H>N		No	TOPMed
rs1173814499	995	H>R		No	TOPMed gnomAD
rs2015588365	999	K>*		No	TOPMed
rs1197941571	999	K>R		No	TOPMed gnomAD
rs1264377691	1000	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs930517859	1000	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1288259009	1001	R>G		No	TOPMed
rs1487434738	1001	R>L		No	TOPMed gnomAD
rs1487434738	1001	R>Q		No	TOPMed gnomAD
rs1213021907	1002	A>T		No	gnomAD
rs748669755	1003	M>I		No	ExAC gnomAD
rs1347746242	1003	M>T		No	Ensembl
rs1292104533	1006	A>P		No	TOPMed gnomAD
rs777181790	1007	V>A		No	ExAC TOPMed gnomAD
rs777181790	1007	V>E		No	ExAC TOPMed gnomAD
rs1436230858	1007	V>I		No	TOPMed
rs1319663916	1009	E>K		No	gnomAD
rs768099264	1010	Q>K		No	ExAC TOPMed gnomAD
rs1399238316	1010	Q>R		No	gnomAD
rs201905172	1011	E>D		No	1000Genomes ExAC gnomAD
rs1324306194	1011	E>K		No	gnomAD
rs746494196	1011	E>V		No	ExAC TOPMed gnomAD
rs1174843391	1013	P>L		No	gnomAD
rs1455706421	1016	A>V		No	TOPMed gnomAD
rs1388069951	1017	E>G		No	TOPMed
rs2015584757	1017	E>K		No	TOPMed
rs368821006	1021	Q>R		No	ESP ExAC TOPMed gnomAD
rs2015584459	1022	E>G		No	TOPMed
rs2015584360	1023	Q>R		No	gnomAD
rs77153547	1024	K>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs777732673	1025	Q>E		No	ExAC TOPMed gnomAD
rs1441862431	1026	E>G		No	gnomAD
rs756073571	1027	Q>H		No	ExAC TOPMed gnomAD
rs1190355540	1027	Q>P		No	TOPMed gnomAD
rs773691018	1028	G>A		No	ExAC gnomAD
rs1222017421	1028	G>R		No	gnomAD
rs770636624	1029	A>P		No	ExAC gnomAD
rs770636624	1029	A>S		No	ExAC gnomAD
rs150470835	1029	A>V		No	1000Genomes ESP TOPMed gnomAD
rs777711066	1030	R>H		No	ExAC TOPMed gnomAD
rs748830946	1030	R>S		No	ExAC TOPMed gnomAD
rs769707105	1033	R>G		No	ExAC TOPMed gnomAD
rs781250790	1034	N>S		No	ExAC TOPMed gnomAD
rs1209451488	1035	H>N		No	gnomAD
rs1276011343	1035	H>Q		No	1000Genomes gnomAD
rs1397855700	1037	E>Q		No	TOPMed gnomAD
TCGA novel	1038	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs758589803	1038	E>K		No	ExAC gnomAD
rs200592292	1039	L>Q		No	1000Genomes ExAC gnomAD
rs1300221902	1042	C>S		No	gnomAD
rs1302174321	1044	G>A		No	TOPMed gnomAD
rs778812354	1044	G>R		No	ExAC TOPMed gnomAD
rs151292064	1048	H>P		No	ESP ExAC TOPMed gnomAD
rs151292064	1048	H>R		No	ESP ExAC TOPMed gnomAD
rs899092270	1048	H>Y		No	TOPMed gnomAD
rs1571062300	1049	T>P		No	Ensembl
rs1427157910	1050	P>S		No	gnomAD
rs1191744071	1051	N>S		No	gnomAD
rs1191744071	1051	N>T		No	gnomAD
rs2015573098	1053	R>G		No	gnomAD
rs764513259	1053	R>Q		No	ExAC gnomAD
rs2015573098	1053	R>W		No	gnomAD
rs756460670	1055	L>F		No	ExAC TOPMed gnomAD
rs2015572667	1056	A>V		No	TOPMed gnomAD
rs2015572584	1057	Q>R		No	Ensembl
rs2015572400	1058	E>G		No	TOPMed
rs55990440 VAR_046056	1061	A>T		No	UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs2015571721	1063	Q>L		No	Ensembl
rs201471065	1064	G>A		No	1000Genomes ExAC TOPMed gnomAD
rs773922510	1064	G>R		No	ExAC TOPMed gnomAD
rs1361517160	1065	R>Q		No	gnomAD
rs2015571419	1065	R>W		No	TOPMed
rs1359834962	1066	L>P		No	gnomAD
rs762730374	1067	R>K		No	ExAC gnomAD
rs762730374	1067	R>T		No	ExAC gnomAD
rs1276741184	1068	A>G		No	gnomAD
rs1481223493	1068	A>T		No	TOPMed gnomAD
rs2015570549	1069	Q>*		No	TOPMed gnomAD
TCGA novel	1070	G>A	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs769761018	1071	L>H		No	ExAC gnomAD
rs1478052278	1072	G>R		No	gnomAD
rs2015569852	1073	P>R		No	TOPMed gnomAD
rs1571062076	1074	A>S		No	Ensembl
rs1418312218	1074	A>V		No	gnomAD
rs181492383	1075	L>P		No	1000Genomes ExAC TOPMed gnomAD
rs181492383	1075	L>R		No	1000Genomes ExAC TOPMed gnomAD
rs1237562887	1078	R>G		No	gnomAD
rs144196715	1078	R>S		No	ESP ExAC gnomAD
rs779054519	1079	P>L		No	ExAC gnomAD
rs779054519	1079	P>Q		No	ExAC gnomAD
rs777951273	1080	L>Q		No	ExAC TOPMed gnomAD
rs2015568244 COSM1214444	1081	F>L	large_intestine [Cosmic]	No	cosmic curated Ensembl
rs767809289 COSM331188	1084	P>L	lung [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs767809289	1084	P>Q		No	ExAC TOPMed gnomAD
rs753079278	1084	P>T		No	ExAC gnomAD
rs1450611756	1085	D>H		No	gnomAD
rs2015567378	1086	A>V		No	Ensembl
rs1365790231	1087	V>A		No	TOPMed gnomAD
rs1365790231	1087	V>E		No	TOPMed gnomAD
rs770013755	1087	V>M		No	ExAC TOPMed gnomAD
rs2015556497	1088	K>E		No	gnomAD
rs2015556379	1089	Q>R		No	TOPMed gnomAD
rs1036223872	1090	I>F		No	TOPMed gnomAD
rs1571061338	1090	I>T		No	Ensembl
rs781665957	1092	R>C		No	ExAC TOPMed gnomAD
rs2015555600	1092	R>H		No	Ensembl
rs781665957	1092	R>S		No	ExAC TOPMed gnomAD
rs1381653476	1093	K>R		No	gnomAD
rs755281486	1094	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs2015555292	1096	I>M		No	TOPMed gnomAD
rs1045846864	1097	R>H		No	TOPMed gnomAD
rs1045846864	1097	R>L		No	TOPMed gnomAD
rs1418996847	1097	R>V	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs780394107	1103	V>I		No	ExAC gnomAD
rs780394107	1103	V>L		No	ExAC gnomAD
rs373785402	1105	D>E		No	ESP ExAC TOPMed gnomAD
COSM3789836 COSM3789837	1105	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1464849273	1106	S>A		No	TOPMed gnomAD
COSM4850972 COSM4850971	1106	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs369432424	1108	L>F		No	ESP ExAC TOPMed gnomAD
rs2015554133	1108	L>P		No	TOPMed
TCGA novel	1108	L>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1557555171	1109	S>N		No	Ensembl
rs2015553786	1110	R>C		No	gnomAD
rs764783731	1110	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs764783731	1110	R>L		No	ExAC gnomAD
rs2015553786	1110	R>S		No	gnomAD
rs761564649	1111	A>V		No	ExAC TOPMed gnomAD
rs760369095	1113	R>P		No	ExAC gnomAD
rs760369095	1113	R>Q		No	ExAC gnomAD
rs143876994	1113	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1304849900	1115	A>V		No	TOPMed gnomAD
rs2148047066	1117	G>A		No	Ensembl
rs775539764	1118	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs2015552876	1118	V>M		No	TOPMed
rs2015552631	1119	L>P		No	TOPMed
rs1198707819	1120	G>V		No	TOPMed gnomAD
rs924887248	1121	P>L		No	Ensembl
rs1345949890	1121	P>S		No	gnomAD
TCGA novel	1124	E>D	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2015541353	1124	E>V		No	Ensembl
COSM1341490 rs185283574	1125	K>E	large_intestine [Cosmic]	No	cosmic curated 1000Genomes
rs760339449	1126	E>K		No	ExAC TOPMed gnomAD
rs1192790793	1127	A>E		No	TOPMed gnomAD
rs1373831539	1127	A>T		No	gnomAD
COSM1602171 COSM1602172 rs1192790793	1127	A>V	liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs752460809	1128	V>I		No	ExAC gnomAD
rs1389540786	1129	S>L		No	TOPMed
rs767272588	1130	P>L		No	ExAC TOPMed gnomAD
rs767272588	1130	P>R		No	ExAC TOPMed gnomAD
rs1161251308	1130	P>T		No	TOPMed gnomAD
rs925323172	1132	S>P		No	TOPMed
rs2015539623	1133	E>D		No	gnomAD
rs1262482340	1134	E>*		No	TOPMed gnomAD
rs1262482340	1134	E>K		No	TOPMed gnomAD
rs1221429283	1137	N>K		No	gnomAD
rs2015539300	1138	E>K		No	gnomAD
rs1270361983	1139	G>R		No	TOPMed gnomAD
rs1335616552	1140	D>E		No	TOPMed gnomAD
rs769907827	1140	D>G		No	ExAC gnomAD
rs139211054	1140	D>H		No	ESP ExAC TOPMed gnomAD
rs139211054	1140	D>Y		No	ESP ExAC TOPMed gnomAD
rs761849291	1141	S>C		No	ExAC gnomAD
rs761849291	1141	S>F		No	ExAC gnomAD
rs2015538344	1141	S>P		No	Ensembl
rs55698627 RCV000974830	1142	Q>R		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs775723863	1146	G>D		No	ExAC TOPMed gnomAD
rs747195468	1146	G>R		No	ExAC gnomAD
rs1474555085	1147	Q>*		No	gnomAD
rs772560998	1147	Q>R		No	ExAC gnomAD
rs192884106	1148	Q>*		No	1000Genomes ExAC TOPMed gnomAD
rs373247708	1149	S>N		No	ESP TOPMed gnomAD
rs756869912	1149	S>R		No	ExAC TOPMed gnomAD
rs370035625	1150	P>L		No	ESP ExAC gnomAD
rs370035625	1150	P>Q		No	ESP ExAC gnomAD
rs2015536448	1150	P>S		No	Ensembl
rs762693057	1152	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1195069639	1154	E>D		No	gnomAD
COSM4966979 COSM4966978 rs912081218	1156	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs751536936	1157	Q>R		No	ExAC TOPMed gnomAD
rs2015534965	1158	G>C		No	TOPMed
TCGA novel	1159	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs766333025	1159	P>S		No	ExAC TOPMed gnomAD
rs764168908	1160	A>G		No	ExAC gnomAD
rs199627707	1160	A>S		No	1000Genomes ExAC TOPMed gnomAD
rs199627707	1160	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs764168908	1160	A>V		No	ExAC gnomAD
rs775770475	1161	P>A		No	ExAC TOPMed gnomAD
rs775770475	1161	P>S		No	ExAC TOPMed gnomAD
rs2015534004	1162	L>Q		No	TOPMed gnomAD
rs2015534091	1162	L>V		No	TOPMed
rs921607331	1163	M>R		No	TOPMed
rs572906443	1164	V>L		No	1000Genomes ExAC TOPMed gnomAD
rs572906443	1164	V>M		No	1000Genomes ExAC TOPMed gnomAD
rs746207218	1165	Q>*		No	ExAC gnomAD
rs2015533318	1167	S>R		No	TOPMed
rs771591740	1170	R>K		No	ExAC gnomAD
rs771591740	1170	R>T		No	ExAC gnomAD
rs1449645356	1171	A>T		No	TOPMed gnomAD
rs2015532642	1172	E>G		No	Ensembl
rs2015532743	1172	E>K		No	TOPMed
rs749748588	1173	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs2015532340	1173	T>S		No	Ensembl
rs777211710	1174	D>E		No	ExAC TOPMed gnomAD
COSM3789834 COSM3789835	1174	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs755632728	1175	R>G		No	ExAC TOPMed gnomAD
COSM3865218 COSM3865217 rs755632728	1175	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs2015527672	1177	R>G		No	TOPMed
rs750378178	1177	R>H		No	ExAC TOPMed gnomAD
COSM3804847 rs778880492 COSM3804846	1178	E>K	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs778880492	1178	E>Q		No	ExAC TOPMed gnomAD
rs757105372	1180	L>P		No	ExAC gnomAD
rs767652137	1181	A>E		No	ExAC gnomAD
rs752848738	1181	A>P		No	ExAC gnomAD
rs1480017898	1183	K>E		No	gnomAD
rs1350873248	1183	K>R		No	TOPMed gnomAD
rs2015526484	1184	E>D		No	Ensembl
rs766699594	1185	R>P		No	ExAC TOPMed gnomAD
rs766699594	1185	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1305151316	1185	R>W		No	gnomAD
rs1241033163	1186	E>*		No	TOPMed gnomAD
COSM1559291 rs1241033163	1186	E>K	central_nervous_system [Cosmic]	No	cosmic curated TOPMed gnomAD
rs1241033163	1186	E>Q		No	TOPMed gnomAD
COSM1473832 rs763343172 COSM1473831	1187	Y>*	Variant assessed as Somatic; HIGH impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs2015525688	1187	Y>C		No	gnomAD
rs1571059929	1187	Y>D		No	Ensembl
rs773406537	1188	Q>*		No	ExAC TOPMed gnomAD
rs773406537	1188	Q>E		No	ExAC TOPMed gnomAD
rs1004730953	1191	V>A		No	TOPMed
rs138963858	1193	R>W		No	ESP TOPMed
rs2015524710	1194	A>V		No	Ensembl
rs2015524613	1195	L>V		No	gnomAD
rs903193392	1196	Q>*		No	TOPMed gnomAD
rs903193392	1196	Q>K		No	TOPMed gnomAD
rs1297945720	1197	R>Q		No	gnomAD
rs762248447	1197	R>W		No	ExAC TOPMed gnomAD
COSM3785251 rs1312267229	1198	L>P	pancreas [Cosmic]	No	cosmic curated TOPMed
rs534028067	1199	N>H		No	1000Genomes ExAC gnomAD
rs534028067	1199	N>Y		No	1000Genomes ExAC gnomAD
rs2148046064	1200	E>K		No	Ensembl
rs779658875	1201	E>V		No	ExAC gnomAD
rs771805215	1202	A>G		No	ExAC gnomAD
rs778526342 COSM1257284 COSM1257285	1203	R>Q	Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs745708830	1203	R>W		No	ExAC TOPMed gnomAD
rs1428665194	1204	T>S		No	TOPMed
rs2148046024	1206	V>A		No	Ensembl
rs950517307	1206	V>L		No	TOPMed
rs574925405	1207	L>R		No	1000Genomes ExAC gnomAD
rs2015522553	1210	E>K		No	Ensembl
rs1041715734	1211	P>L		No	Ensembl
rs2015522450	1211	P>S		No	TOPMed
rs1013500278	1213	T>A		No	TOPMed gnomAD
rs2148045660	1214	A>V		No	Ensembl
COSM3722465 COSM3722466	1216	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs762373403	1217	T>A		No	ExAC gnomAD
rs777110745	1217	T>K		No	ExAC TOPMed gnomAD
rs777110745	1217	T>M		No	ExAC TOPMed gnomAD
rs1443309679	1218	D>E		No	gnomAD
rs150923701	1219	Q>E		No	ESP ExAC TOPMed gnomAD
rs1178104511	1219	Q>P		No	gnomAD
rs1169532062	1220	G>A		No	TOPMed
rs1169532062	1220	G>D		No	TOPMed
rs1451385992	1222	V>A		No	TOPMed
rs1451385992	1222	V>G		No	TOPMed
rs1231359523	1224	W>C		No	TOPMed gnomAD
rs771781251	1225	L>Q		No	ExAC gnomAD
rs992364585	1225	L>V		No	TOPMed
rs1319824165	1226	Q>H		No	gnomAD
rs745456010	1226	Q>K		No	ExAC gnomAD
rs1243959449	1226	Q>R		No	gnomAD
rs148477596	1227	E>K		No	ESP ExAC TOPMed gnomAD
rs148477596	1227	E>Q		No	ESP ExAC TOPMed gnomAD
rs1033988352	1228	L>M		No	TOPMed gnomAD
rs1372388607	1230	V>A		No	gnomAD
rs749283789	1231	D>H		No	ExAC TOPMed gnomAD
rs17162549 VAR_046057	1233	G>A		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1051149593	1233	G>R		No	TOPMed gnomAD
rs1051149593	1233	G>S		No	TOPMed gnomAD
rs756071813	1234	T>A		No	ExAC TOPMed gnomAD
rs756071813	1234	T>P		No	ExAC TOPMed gnomAD
rs747106322	1236	Q>P		No	ExAC gnomAD
rs779938252	1237	M>T		No	ExAC gnomAD
rs1430313974	1239	L>S		No	gnomAD
rs754225050	1241	H>R		No	ExAC TOPMed gnomAD
rs2015497256	1242	S>N		No	Ensembl
rs1485498796	1243	F>V		No	TOPMed gnomAD
rs141031254	1244	T>I		No	1000Genomes ExAC TOPMed gnomAD
rs1571058399	1244	T>P		No	Ensembl
rs375004232	1245	L>I		No	ESP ExAC TOPMed gnomAD
rs2015496582	1246	H>N		No	gnomAD
rs1279155743	1247	T>I		No	TOPMed gnomAD
rs1279155743	1247	T>N		No	TOPMed gnomAD
rs767117230	1247	T>P		No	ExAC TOPMed gnomAD
rs1279155743	1247	T>S		No	TOPMed gnomAD
rs1230632028	1249	L>V		No	TOPMed gnomAD
rs2015495813	1250	T>I		No	TOPMed gnomAD
rs2148045079	1251	Y>C		No	Ensembl
rs766148863	1251	Y>D		No	ExAC TOPMed gnomAD
rs2015495400	1251	Y>F		No	gnomAD
rs766148863	1251	Y>H		No	ExAC TOPMed gnomAD
COSM4872259 COSM907857	1252	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1268708547	1254	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1440263708	1254	R>Q		No	TOPMed gnomAD
COSM1646124 COSM680149	1256	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1557552938	1256	D>Y		No	Ensembl
rs773144014	1257	L>V		No	ExAC gnomAD
rs769707001	1258	I>L		No	ExAC TOPMed gnomAD
rs546863373	1258	I>T		No	1000Genomes ExAC gnomAD
rs1170978850	1259	Y>H		No	gnomAD
rs776410380	1260	T>I		No	ExAC TOPMed gnomAD
rs2015494260	1260	T>P		No	TOPMed
rs768616209 CA712927 RCV000585285	1261	R>missing		No	ClinGen ClinVar dbSNP
rs111630918 COSM1687278 COSM1687279	1261	R>C	Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs745966999	1261	R>H		No	ExAC TOPMed gnomAD
rs745966999	1261	R>L		No	ExAC TOPMed gnomAD
rs111630918	1261	R>S		No	ExAC TOPMed gnomAD
rs1553140902	1263	R>G		No	Ensembl
rs1361107264	1264	G>R		No	TOPMed gnomAD
rs774421165	1264	G>V		No	ExAC TOPMed gnomAD
rs770997298	1265	G>E		No	ExAC TOPMed gnomAD
rs1359309377	1266	M>I		No	TOPMed gnomAD
rs2015484699	1267	V>I		No	Ensembl
rs749573279	1269	R>C		No	ExAC TOPMed gnomAD
rs940888969	1269	R>H		No	TOPMed gnomAD
rs141435319	1270	I>F		No	ESP ExAC TOPMed gnomAD
rs2015483997	1271	W>*		No	gnomAD
rs2015484091	1271	W>L		No	Ensembl
rs2015483899	1272	R>K		No	Ensembl
rs1216592295	1274	I>M		No	gnomAD
rs770013342	1275	L>M		No	ExAC gnomAD
rs748479770	1277	Q>*		No	ExAC TOPMed gnomAD
rs748479770	1277	Q>E		No	ExAC TOPMed gnomAD
rs781559146	1278	R>*		No	ExAC TOPMed gnomAD
rs544318017	1278	R>P		No	ExAC TOPMed gnomAD
rs544318017	1278	R>Q		No	ExAC TOPMed gnomAD
rs917702880	1279	A>T		No	TOPMed
TCGA novel	1281	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2015482655	1282	T>I		No	TOPMed gnomAD
rs1476375146	1283	P>L		No	TOPMed
rs1364178680	1284	V>A		No	TOPMed gnomAD
rs370280703	1286	S>C		No	ESP ExAC TOPMed gnomAD
rs2148044597	1286	S>P		No	Ensembl
TCGA novel	1286	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2015481888	1288	P>H		No	Ensembl
rs2015481888	1288	P>L		No	Ensembl
rs2148044579	1288	P>S		No	Ensembl
rs1270647500	1289	P>C		No	gnomAD

No associated diseases with O95382

7 regional properties for O95382

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	648 - 906	IPR000719
active_site	Serine/threonine-protein kinase, active site	767 - 779	IPR008271
binding_site	Protein kinase, ATP binding site	654 - 677	IPR017441
domain	MAP3K, TRAFs-binding domain	129 - 507	IPR025136
domain	MAP3K, PH domain	524 - 618	IPR043969
domain	MAP3K, deoxyribohydrolase domain	74 - 114	IPR046872
domain	MAP3K, HisK-N-like globin domain	993 - 1122	IPR046873

Functions

		Description
EC Number	2.7.11.25	Protein-serine/threonine kinases
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

4 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
magnesium ion binding	Binding to a magnesium (Mg) ion.
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 serine kinase activity	Catalysis of the reactions

3 GO annotations of biological process

Name	Definition
cellular response to stress	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 stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation).
protein phosphorylation	The process of introducing a phosphate group on to a protein.
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.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q99683	MAP3K5	Mitogen-activated protein kinase kinase kinase 5	Homo sapiens (Human)	EV
Q6ZN16	MAP3K15	Mitogen-activated protein kinase kinase kinase 15	Homo sapiens (Human)	SS
A2AQW0	Map3k15	Mitogen-activated protein kinase kinase kinase 15	Mus musculus (Mouse)	PR
O35099	Map3k5	Mitogen-activated protein kinase kinase kinase 5	Mus musculus (Mouse)	SS
Q9WTR2	Map3k6	Mitogen-activated protein kinase kinase kinase 6	Mus musculus (Mouse)	SS

10	20	30	40	50	60
MAGPCPRSGA	ERAGSCWQDP	LAVALSRGRQ	LAAPPGRGCA	RSRPLSVVYV	LTREPQPGLE
70	80	90	100	110	120
PREGTEAEPL	PLRCLREACA	QVPRPRPPPQ	LRSLPFGTLE	LGDTAALDAF	YNADVVVLEV
130	140	150	160	170	180
SSSLVQPSLF	YHLGVRESFS	MTNNVLLCSQ	ADLPDLQALR	EDVFQKNSDC	VGSYTLIPYV
190	200	210	220	230	240
VTATGRVLCG	DAGLLRGLAD	GLVQAGVGTE	ALLTPLVGRL	ARLLEATPTD	SCGYFRETIR
250	260	270	280	290	300
RDIRQARERF	SGPQLRQELA	RLQRRLDSVE	LLSPDIIMNL	LLSYRDVQDY	SAIIELVETL
310	320	330	340	350	360
QALPTCDVAE	QHNVCFHYTF	ALNRRNRPGD	RAKALSVLLP	LVQLEGSVAP	DLYCMCGRIY
370	380	390	400	410	420
KDMFFSSGFQ	DAGHREQAYH	WYRKAFDVEP	SLHSGINAAV	LLIAAGQHFE	DSKELRLIGM
430	440	450	460	470	480
KLGCLLARKG	CVEKMQYYWD	VGFYLGAQIL	ANDPTQVVLA	AEQLYKLNAP	IWYLVSVMET
490	500	510	520	530	540
FLLYQHFRPT	PEPPGGPPRR	AHFWLHFLLQ	SCQPFKTACA	QGDQCLVLVL	EMNKVLLPAK
550	560	570	580	590	600
LEVRGTDPVS	TVTLSLLEPE	TQDIPSSWTF	PVASICGVSA	SKRDERCCFL	YALPPAQDVQ
610	620	630	640	650	660
LCFPSVGHCQ	WFCGLIQAWV	TNPDSTAPAE	EAEGAGEMLE	FDYEYTETGE	RLVLGKGTYG
670	680	690	700	710	720
VVYAGRDRHT	RVRIAIKEIP	ERDSRFSQPL	HEEIALHRRL	RHKNIVRYLG	SASQGGYLKI
730	740	750	760	770	780
FMEEVPGGSL	SSLLRSVWGP	LKDNESTISF	YTRQILQGLG	YLHDNHIVHR	DIKGDNVLIN
790	800	810	820	830	840
TFSGLLKISD	FGTSKRLAGI	TPCTETFTGT	LQYMAPEIID	QGPRGYGKAA	DIWSLGCTVI
850	860	870	880	890	900
EMATGRPPFH	ELGSPQAAMF	QVGMYKVHPP	MPSSLSAEAQ	AFLLRTFEPD	PRLRASAQTL
910	920	930	940	950	960
LGDPFLQPGK	RSRSPSSPRH	APRPSDAPSA	SPTPSANSTT	QSQTFPCPQA	PSQHPPSPPK
970	980	990	1000	1010	1020
RCLSYGGTSQ	LRVPEEPAAE	EPASPEESSG	LSLLHQESKR	RAMLAAVLEQ	ELPALAENLH
1030	1040	1050	1060	1070	1080
QEQKQEQGAR	LGRNHVEELL	RCLGAHIHTP	NRRQLAQELR	ALQGRLRAQG	LGPALLHRPL
1090	1100	1110	1120	1130	1140
FAFPDAVKQI	LRKRQIRPHW	MFVLDSLLSR	AVRAALGVLG	PEVEKEAVSP	RSEELSNEGD
1150	1160	1170	1180	1190	1200
SQQSPGQQSP	LPVEPEQGPA	PLMVQLSLLR	AETDRLREIL	AGKEREYQAL	VQRALQRLNE
1210	1220	1230	1240	1250	1260
EARTYVLAPE	PPTALSTDQG	LVQWLQELNV	DSGTIQMLLN	HSFTLHTLLT	YATRDDLIYT
1270	1280
RIRGGMVCRI	WRAILAQRAG	STPVTSGP