AiPD: Autoinhibited Protein Database

Q99683

Gene name	MAP3K5 (ASK1, MAPKKK5, MEKK5)
Protein name	Mitogen-activated protein kinase kinase kinase 5
Names	Apoptosis signal-regulating kinase 1, ASK-1, MAPK/ERK kinase kinase 5, MEK kinase 5, MEKK 5
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4217
EC number	2.7.11.25: Protein-serine/threonine kinases
Protein Class	SERINE/THREONINE PROTEIN KINASE (PTHR11584)

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)

Target domain	680-938 (Protein kinase domain)
Relief mechanism	Partner binding, Others
Assay	Deletion assay, Structural analysis

AID

88-266 (Thioredoxin-binding domain)

Target domain

680-938 (Protein kinase domain)

Relief mechanism

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

Assay

Deletion assay, Structural analysis

Accessory elements

821-844 (Activation loop from InterPro)

Target domain	680-938 (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

26 structures for Q99683

Entry ID	Method	Resolution	Chain	Position	Source
2CLQ	X-ray	230 A	A/B	659-951	PDB
3VW6	X-ray	240 A	A/B	671-939	PDB
4BF2	X-ray	211 A	A/B	660-977	PDB
4BHN	X-ray	230 A	A/B	660-977	PDB
4BIB	X-ray	243 A	A/B	660-977	PDB
4BIC	X-ray	262 A	A/B	660-977	PDB
4BID	X-ray	280 A	A/B	660-977	PDB
4BIE	X-ray	236 A	A/B	660-977	PDB
5ULM	X-ray	210 A	A/B	269-658	PDB
5UOR	X-ray	275 A	A/B	670-939	PDB
5UOX	X-ray	250 A	A/B	670-940	PDB
5UP3	X-ray	295 A	A/B	670-940	PDB
5V19	X-ray	310 A	A/B	670-940	PDB
5V24	X-ray	250 A	A/B	670-940	PDB
5VIL	X-ray	264 A	A/B/C/D	659-951	PDB
5VIO	X-ray	284 A	A/B/C/D	659-951	PDB
6E2M	X-ray	225 A	A/B	659-951	PDB
6E2N	X-ray	210 A	A/B	659-951	PDB
6E2O	X-ray	239 A	A/B	659-951	PDB
6EJL	X-ray	238 A	C/D	963-970	PDB
6OYT	X-ray	282 A	A/B/C/D	667-939	PDB
6OYW	X-ray	260 A	A/B/C/D	658-951	PDB
6VRE	X-ray	229 A	A/B	661-951	PDB
6XIH	X-ray	265 A	A/B	667-953	PDB
7MU7	X-ray	230 A	A/B	660-977	PDB
AF-Q99683-F1	Predicted				AlphaFoldDB

794 variants for Q99683

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1220677870 CA365853105	3	T>M		No	ClinGen gnomAD
CA148637433 rs1047889748	6	D>H		No	ClinGen TOPMed gnomAD
CA4017462 rs565734646	7	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs749639291 CA4017463	7	E>K		No	ClinGen ExAC TOPMed gnomAD
CA365853083 rs749639291	7	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA4017460 rs751150927	9	I>L		No	ClinGen ExAC gnomAD
rs1289985205 CA365853062	10	T>I		No	ClinGen gnomAD
rs1348643192 CA365853044	13	V>M		No	ClinGen TOPMed gnomAD
rs779368949 CA4017459	14	P>T		No	ClinGen ExAC TOPMed gnomAD
rs114489274 CA4017458	16	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1166899315 CA365853020	17	A>T		No	ClinGen gnomAD
rs1430106621 CA365853010	18	P>L		No	ClinGen gnomAD
rs1477037366 CA365853000	20	G>A		No	ClinGen gnomAD
CA4017457 rs750034402	22	C>F		No	ClinGen ExAC TOPMed gnomAD
CA365852986 rs750034402	22	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs569584309 CA4017456	23	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs569584309 CA365852979	23	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365852976 rs1272070521	24	I>V		No	ClinGen gnomAD
CA365852965 rs1309641248	25	P>L		No	ClinGen gnomAD
rs1296830207 CA365852953	27	G>D		No	ClinGen gnomAD
CA148637432 rs867873527	28	G>C		No	ClinGen gnomAD
CA365852919 rs1405655670	32	R>K		No	ClinGen gnomAD
CA4017452 rs760461176	32	R>S		No	ClinGen ExAC
CA4017451 rs775652102	33	G>R		No	ClinGen ExAC gnomAD
rs549691814 CA4017450	35	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs549691814 CA148637431	35	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365852903 rs1463659818	35	A>V		No	ClinGen gnomAD
CA365852886 rs1346689102	38	V>A		No	ClinGen TOPMed
CA365852885 rs1346689102	38	V>G		No	ClinGen TOPMed
CA148637430 rs1046733952	40	E>K		No	ClinGen TOPMed gnomAD
rs1431396871 CA365852863	42	E>*		No	ClinGen gnomAD
CA365852843 rs1471986553	44	H>Q		No	ClinGen TOPMed gnomAD
rs1159985613 CA365852845	44	H>R		No	ClinGen TOPMed gnomAD
rs913696484 CA148637429	48	P>L		No	ClinGen TOPMed
rs749730926 CA4017445	49	P>S		No	ClinGen ExAC gnomAD
rs749730926 CA148637428	49	P>T		No	ClinGen ExAC gnomAD
rs770342098 CA4017443	51	P>Q		No	ClinGen ExAC
CA4017444 rs777998478	51	P>S		No	ClinGen ExAC gnomAD
CA365852790 rs55666429	53	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365852759 rs1349954926	57	V>E		No	ClinGen gnomAD
rs1349954926 CA365852761	57	V>G		No	ClinGen gnomAD
CA4017438 rs749909702	60	A>S		No	ClinGen ExAC gnomAD
CA365852732 rs1374384413	61	A>V		No	ClinGen TOPMed gnomAD
CA148637427 rs540764002	62	A>V		No	ClinGen 1000Genomes
CA4017437 rs778591440	64	G>V		No	ClinGen ExAC gnomAD
rs1024148027 CA148637425	67	C>F		No	ClinGen TOPMed gnomAD
rs969460821 CA148637426	67	C>R		No	ClinGen Ensembl
CA365852691 rs1451583810	68	P>L		No	ClinGen TOPMed gnomAD
rs1456707301 CA365852685	69	A>V		No	ClinGen gnomAD
CA4017434 rs753669395	70	A>P		No	ClinGen ExAC gnomAD
CA365852675 rs1442547617	71	T>I		No	ClinGen TOPMed
CA365852662 rs1255080229	73	S>L		No	ClinGen TOPMed gnomAD
CA365852664 rs1255080229	73	S>W		No	ClinGen TOPMed gnomAD
CA4017432 rs756097864	74	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1460267868 CA365852639	77	T>A		No	ClinGen gnomAD
CA4017431 rs752536546	77	T>I		No	ClinGen ExAC gnomAD
CA4017430 rs767531634	79	G>S		No	ClinGen ExAC gnomAD
rs1326842564 CA365852626	79	G>V		No	ClinGen TOPMed
CA365852624 rs1259463381	80	R>W		No	ClinGen gnomAD
rs961201331 CA148637422	83	S>C		No	ClinGen Ensembl
CA4017428 rs961201331	83	S>F		No	ClinGen Ensembl
rs771259254 CA4017427	84	V>F		No	ClinGen ExAC TOPMed gnomAD
rs1312297871 CA365852588	86	G>A		No	ClinGen gnomAD
rs774561059 CA4017426	86	G>W		No	ClinGen ExAC TOPMed gnomAD
rs369233899 CA4017425	87	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1434064382 CA365852565	90	R>Q		No	ClinGen TOPMed gnomAD
CA4017422 rs773642542	92	T>A		No	ClinGen ExAC TOPMed gnomAD
CA4017421 rs770009920	92	T>M		No	ClinGen ExAC gnomAD
CA365852551 rs1367317248	93	V>L		No	ClinGen gnomAD
rs1191470646 CA365852545	94	A>S		No	ClinGen TOPMed
CA365852535 rs1347393475	95	Y>*		No	ClinGen gnomAD
CA365852539 rs1162262085	95	Y>D		No	ClinGen gnomAD
rs1446151961 CA365852537	95	Y>S		No	ClinGen gnomAD
rs376290248 CA4017418	98	N>K		No	ClinGen ESP ExAC gnomAD
rs1385457142 CA365852517	98	N>S		No	ClinGen gnomAD
CA148637421 rs147357180	101	S>I		No	ClinGen ESP gnomAD
CA365852474 rs1486238218	104	Q>R		No	ClinGen gnomAD
rs777655082 CA4017413	107	V>L		No	ClinGen ExAC TOPMed gnomAD
CA4017414 rs777655082	107	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1315962230 CA365852440	110	S>G		No	ClinGen TOPMed gnomAD
rs141136422 CA4017412	113	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4017411 rs752516381	117	R>Q		No	ClinGen ExAC gnomAD
CA365852388 rs1320218957	118	E>K		No	ClinGen gnomAD
rs1389918381 CA365852372	120	C>G		No	ClinGen gnomAD
rs542409556 CA4017410	121	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs866964997 CA148637419	121	E>K		No	ClinGen Ensembl
CA365852359 rs1290312525	122	T>A		No	ClinGen TOPMed
rs754963392 CA4017409	124	G>D		No	ClinGen ExAC TOPMed gnomAD
CA365852334 rs1480586912	126	T>N		No	ClinGen Ensembl
CA365852314 rs1293087840	129	T>S		No	ClinGen TOPMed
rs1233775613 CA365852289	133	G>W		No	ClinGen TOPMed
CA365852281 rs1365851539	134	K>R		No	ClinGen TOPMed gnomAD
CA365852228 rs1195776159	142	V>M		No	ClinGen gnomAD
rs763262385 CA4017406	146	F>L		No	ClinGen ExAC gnomAD
rs1220407354 CA365852185	148	N>S		No	ClinGen gnomAD
CA365767711 rs1562643703	151	I>T		No	ClinGen Ensembl
COSM1073761 CA4017392 rs756647118	152	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1225195454 CA365767649	156	M>K		No	ClinGen gnomAD
CA365767633 rs1346066065	157	S>N		No	ClinGen TOPMed gnomAD
CA365767615 rs1337205346	158	D>G		No	ClinGen gnomAD
CA365767621 rs1439371428	158	D>N		No	ClinGen gnomAD
CA365767602 rs1179268524	159	A>V		No	ClinGen TOPMed
CA4017389 rs758452409	163	P>L		No	ClinGen ExAC gnomAD
CA4017387 rs765441694	165	L>V		No	ClinGen ExAC gnomAD
CA4017386 rs762025806	170	G>E		No	ClinGen ExAC gnomAD
rs754212712 CA4017385	171	V>M		No	ClinGen ExAC gnomAD
CA4017383 rs761201354	173	E>A		No	ClinGen ExAC gnomAD
CA365767509 rs1172483546	173	E>D		No	ClinGen TOPMed
CA365767515 rs1182730161	173	E>K		No	ClinGen TOPMed gnomAD
CA148229855 rs866594190	176	S>G		No	ClinGen Ensembl
CA148229814 rs374209436	177	M>V		No	ClinGen ESP
CA148229811 rs1013830348	178	A>P		No	ClinGen Ensembl
rs772610425 CA4017381	180	N>H		No	ClinGen ExAC gnomAD
rs1267395206 CA365767462	180	N>T		No	ClinGen gnomAD
CA365767456 rs1463518125	181	I>V		No	ClinGen TOPMed
rs762428983 CA4017380	182	I>V		No	ClinGen ExAC gnomAD
CA4017379 rs371620734	184	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA365767430 rs1395559115	185	C>R		No	ClinGen TOPMed
CA4017378 rs769338088	186	D>G		No	ClinGen ExAC gnomAD
CA4017377 rs747747809	188	N>K		No	ClinGen ExAC TOPMed gnomAD
CA4017376 rs781159617	189	S>L		No	ClinGen ExAC TOPMed gnomAD
rs780194686 CA4017373	191	S>A		No	ClinGen ExAC gnomAD
rs1399049147 CA365767387	191	S>C		No	ClinGen gnomAD
rs1562643457 CA365767382	192	L>P		No	ClinGen Ensembl
CA148218118 rs866248186	197	E>K		No	ClinGen Ensembl
CA4017350 rs568429483	198	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA365767039 rs1489614469	200	C>F		No	ClinGen gnomAD
CA4017347 rs180950040	204	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1365797910 CA365767008	204	T>I		No	ClinGen TOPMed
CA4017322 rs779103210	205	M>L		No	ClinGen ExAC TOPMed gnomAD
CA365766303 rs779103210	205	M>L		No	ClinGen ExAC TOPMed gnomAD
CA148213620 rs779103210	205	M>V		No	ClinGen ExAC TOPMed gnomAD
CA4017320 rs758973070	211	T>A		No	ClinGen ExAC
rs753459431 CA4017319	211	T>I		No	ClinGen ExAC gnomAD
rs763677418 CA4017318	213	V>A		No	ClinGen ExAC gnomAD
CA365766228 rs886970942	216	M>L		No	ClinGen gnomAD
rs886970942 CA148213567	216	M>V		No	ClinGen gnomAD
rs1410623317 CA365766217	217	I>R		No	ClinGen TOPMed
CA4017317 rs370397269	217	I>V		No	ClinGen ESP ExAC gnomAD
CA4017316 rs775240769	219	P>L		No	ClinGen ExAC gnomAD
rs759389453 CA4017314	220	H>R		No	ClinGen ExAC gnomAD
rs1429690352 CA365766186	222	K>R		No	ClinGen TOPMed
rs1460406871 CA365766181	223	V>I		No	ClinGen gnomAD
rs773950489 CA4017313	224	Y>C		No	ClinGen ExAC gnomAD
rs1265506427 CA365766175	224	Y>N		No	ClinGen gnomAD
CA365766157 rs1316363253	226	C>Y		No	ClinGen gnomAD
rs867402242 CA148213518	231	M>I		No	ClinGen Ensembl
CA365766117 rs1335898029	231	M>T		No	ClinGen gnomAD
CA4017310 rs368629309	231	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs769830441 CA4017309	232	K>R		No	ClinGen ExAC gnomAD
CA365766087 rs1392189902	236	E>K		No	ClinGen TOPMed
rs1328225137 CA365766078	237	L>V		No	ClinGen TOPMed
rs781495758 CA4017307	238	M>L		No	ClinGen ExAC gnomAD
CA365766059 rs1583438023	239	Q>H		No	ClinGen Ensembl
rs371142814 CA4017306	240	P>L		No	ClinGen ESP ExAC gnomAD
rs780557000 CA4017304	241	N>K		No	ClinGen ExAC gnomAD
rs757254718 CA148213479	243	E>K		No	ClinGen TOPMed gnomAD
rs137874013 CA148213472	244	L>M		No	ClinGen 1000Genomes
rs1183406482 CA365766029	244	L>Q		No	ClinGen gnomAD
CA148213457 rs112628257	245	L>P		No	ClinGen Ensembl
rs1245535031 CA365766012	247	G>A		No	ClinGen gnomAD
CA4017302 rs750932730	249	I>V		No	ClinGen ExAC TOPMed gnomAD
rs944072739 CA148213432	250	C>G		No	ClinGen Ensembl
rs267600836 CA148213427	252	P>S		No	ClinGen Ensembl
CA4017301 rs376459810	254	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1270829827 CA365765972	254	V>M		No	ClinGen TOPMed gnomAD
CA365765965 rs1481387114	255	D>Y		No	ClinGen TOPMed
rs145735047 CA148213409 COSM108960	256	R>C	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
COSM1073757 rs755673569 CA4017300	256	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1354739176 CA365765955	257	F>L		No	ClinGen TOPMed gnomAD
CA4017298 rs767203437	258	I>N		No	ClinGen ExAC TOPMed gnomAD
rs1283071979 CA365765936	259	Q>H		No	ClinGen gnomAD
rs759105579 CA365765937	259	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs759105579 CA4017297	259	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1384654024 CA365765932	260	L>F		No	ClinGen TOPMed gnomAD
CA365765923 rs1173610581	261	L>F		No	ClinGen TOPMed
rs373295087 CA4017296	263	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA4017295 rs370477039	264	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1168254859 CA365765902	265	Q>E		No	ClinGen TOPMed
rs572245982 CA148213365	266	A>G		No	ClinGen Ensembl
rs762916403 CA4017294	266	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1296193366 CA365765857	270	Q>K		No	ClinGen TOPMed
CA4017281 rs780553521	272	F>L		No	ClinGen ExAC gnomAD
rs1478193524 CA365765839	272	F>V		No	ClinGen gnomAD
rs754707229 CA4017280	273	R>Q		No	ClinGen ExAC gnomAD
rs374880750 CA148212698	273	R>W		No	ClinGen ESP TOPMed gnomAD
CA4017279 rs751179486	274	E>K		No	ClinGen ExAC gnomAD
CA4017278 rs765972938	275	S>C		No	ClinGen ExAC gnomAD
CA4017277 rs147737928	276	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4017276 rs147737928	276	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1253019891 CA365765812	277	L>F		No	ClinGen gnomAD
rs1219090242 CA365765805	278	N>S		No	ClinGen TOPMed gnomAD
CA4017274 rs761647864	280	I>L		No	ClinGen ExAC TOPMed gnomAD
CA365765766 rs1249696194	283	A>V		No	ClinGen TOPMed
rs776825581 CA4017273	284	R>C		No	ClinGen ExAC TOPMed gnomAD
CA365765763 rs1327710991	284	R>H		No	ClinGen gnomAD
rs1391189365 CA365765759	285	N>D		No	ClinGen gnomAD
CA148212662 rs866907162	288	T>N		No	ClinGen gnomAD
rs768590185 CA4017272	288	T>P		No	ClinGen ExAC gnomAD
CA148212656 rs372272758	291	E>G		No	ClinGen ESP
CA365765716 rs1466653227	291	E>Q		No	ClinGen gnomAD
rs760771515 CA4017271	294	A>V		No	ClinGen ExAC gnomAD
CA148212636 rs955477622	295	E>G		No	ClinGen Ensembl
CA365765676 rs1388373271	297	A>S		No	ClinGen TOPMed
CA4017270 rs775879849	297	A>V		No	ClinGen ExAC gnomAD
rs1583435454 CA365765664	299	I>L		No	ClinGen Ensembl
CA365765655 rs1378454122 COSM317611	300	R>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1378454122 CA365765657	300	R>Q		No	ClinGen TOPMed gnomAD
COSM1073755 CA365765658 rs1479028065	300	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA365765645 rs1181290034	302	R>*		No	ClinGen gnomAD
CA4017269 rs772364236	302	R>Q		No	ClinGen ExAC gnomAD
CA4017268 rs368038602	307	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA148212601 rs368038602	307	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs200149561 CA4017267	308	V>G		No	ClinGen 1000Genomes ExAC gnomAD
rs749735715 CA4017265	309	L>F		No	ClinGen ExAC TOPMed gnomAD
CA4017264 rs780793069	314	V>F		No	ClinGen ExAC gnomAD
rs1236512482 CA365765547	317	L>Q		No	ClinGen gnomAD
CA365765528 COSM223124 rs1406039161	320	S>Y	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA365765513 rs1435323729	322	R>I		No	ClinGen TOPMed
CA4017260 rs373910112	324	I>V		No	ClinGen ESP ExAC TOPMed
rs1423770839 CA365765464	327	Y>C		No	ClinGen TOPMed gnomAD
CA4017240 rs778590348	330	I>V		No	ClinGen ExAC TOPMed gnomAD
CA365765435 rs1241412736	331	V>G		No	ClinGen gnomAD
rs1459929175 CA365765439	331	V>L		No	ClinGen TOPMed
rs1190432576 CA365765421	334	V>I		No	ClinGen gnomAD
rs753612963 CA4017238	338	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA4017236 rs374567494	341	P>L		No	ClinGen ESP ExAC gnomAD
CA4017237 rs763944168	341	P>S		No	ClinGen ExAC gnomAD
rs1230367045 CA365765353	344	D>G		No	ClinGen gnomAD
CA148211736 rs371052306	344	D>N		No	ClinGen ESP TOPMed
rs767682792 CA4017234	347	S>A		No	ClinGen ExAC gnomAD
CA4017235 rs767682792	347	S>P		No	ClinGen ExAC gnomAD
rs1439671451 CA365765307	351	V>L		No	ClinGen TOPMed
CA4017232 rs774466099	358	A>T		No	ClinGen ExAC gnomAD
CA365765236 rs1562621086	361	R>K		No	ClinGen Ensembl
rs766511825 CA4017211	365	P>H		No	ClinGen ExAC gnomAD
CA4017210 rs763227736	366	G>R		No	ClinGen ExAC
CA365765188 rs1467176549	366	G>V		No	ClinGen TOPMed gnomAD
rs750807682 CA4017209	369	A>P		No	ClinGen ExAC gnomAD
CA365765167 rs1479148403	369	A>V		No	ClinGen gnomAD
CA4017208 rs765559117	370	K>E		No	ClinGen ExAC gnomAD
CA148210546 rs966043419	371	A>T		No	ClinGen Ensembl
rs762129870 CA4017207	372	L>F		No	ClinGen ExAC TOPMed gnomAD
rs777147693 CA4017206	373	D>G		No	ClinGen ExAC gnomAD
rs1459508950 CA365765149	373	D>N		No	ClinGen gnomAD
rs1329477164 CA365765137	374	I>T		No	ClinGen TOPMed
CA365765134 rs1433497940	375	M>V		No	ClinGen TOPMed
rs758974642 CA4017203	379	V>A		No	ClinGen ExAC TOPMed gnomAD
CA365765100 rs758974642	379	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1372862036 CA365765095	380	Q>R		No	ClinGen gnomAD
CA365765088 rs1277608111	381	S>N		No	ClinGen gnomAD
CA148210523 rs773910034	381	S>R		No	ClinGen ExAC TOPMed gnomAD
CA4017201 rs770548145 COSM1440680	382	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs748948898 CA4017200	383	G>R		No	ClinGen ExAC gnomAD
CA4017199 rs777749916	385	V>I		No	ClinGen ExAC TOPMed gnomAD
CA365765048 rs1288507653	387	S>L		No	ClinGen TOPMed
rs769742799 CA4017198	389	M>T		No	ClinGen ExAC gnomAD
rs1217332677 CA365765018	391	C>F		No	ClinGen TOPMed
rs1405302340 COSM1073745 CA365764996	395	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1177190011 CA365764982	397	Y>C		No	ClinGen gnomAD
CA4017197 rs747901209	400	M>K		No	ClinGen ExAC gnomAD
rs1239329356 CA365764951	401	F>Y		No	ClinGen gnomAD
CA365764935 rs1477475207	403	D>G		No	ClinGen TOPMed
CA4017195 rs75070000	407	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758593083 CA4017192	410	E>K		No	ClinGen ExAC gnomAD
rs369093185 CA4017189	414	H>R		No	ClinGen ExAC TOPMed gnomAD
CA4017190 rs765399310	414	H>Y		No	ClinGen ExAC gnomAD
rs1370727705 CA365762756	418	W>*		No	ClinGen gnomAD
CA4017170 rs779114748	419	F>L		No	ClinGen ExAC gnomAD
rs757467261 CA4017169	421	K>E		No	ClinGen ExAC TOPMed gnomAD
CA4017167 rs767850286	422	A>V		No	ClinGen ExAC gnomAD
CA365762522 rs1453367548	435	Y>F		No	ClinGen TOPMed gnomAD
rs150422962 CA4017160	436	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1194345 CA4017158 rs776615081	438	L>F	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs140464614 CA4017155	442	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4017153 rs746017726	443	G>R		No	ClinGen ExAC TOPMed gnomAD
rs778951135 CA4017152	447	E>A		No	ClinGen ExAC gnomAD
CA148193555 rs916441346	447	E>Q		No	ClinGen TOPMed gnomAD
CA365762274 rs1172945444	453	R>L		No	ClinGen TOPMed gnomAD
CA365762269 rs1172945444	453	R>Q		No	ClinGen TOPMed gnomAD
rs376994168 CA4017150	453	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA148193536 rs930894804	455	V>A		No	ClinGen TOPMed
CA4017132 rs749316065	465	K>N		No	ClinGen ExAC gnomAD
CA4017131 rs778067189	466	K>R		No	ClinGen ExAC TOPMed gnomAD
CA365768857 rs1311907821	471	K>E		No	ClinGen gnomAD
CA365768852 rs1583363835	471	K>N		No	ClinGen Ensembl
CA365768846 rs1220135368	472	L>P		No	ClinGen TOPMed
rs769840135 CA4017130	473	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1194282514 CA365768809	477	E>A		No	ClinGen TOPMed
CA148199637 rs991643917	478	V>A		No	ClinGen TOPMed gnomAD
CA365768773 rs1583363729	482	L>R		No	ClinGen Ensembl
CA4017127 rs781394441	484	A>D		No	ClinGen ExAC TOPMed gnomAD
CA365768765 rs1158215436	484	A>P		No	ClinGen gnomAD
rs1158215436 CA365768766	484	A>T		No	ClinGen gnomAD
rs950178937 CA365768754	485	S>R		No	ClinGen TOPMed gnomAD
rs752078321 CA4017125 COSM204706	486	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA365768718 rs1442429786	491	H>P		No	ClinGen gnomAD
rs983594918 CA148199609	492	M>I		No	ClinGen TOPMed
CA4017122 rs763877652	492	M>R		No	ClinGen ExAC gnomAD
rs763877652 COSM204705 CA4017121	492	M>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA365768693 rs1355384281	495	I>V		No	ClinGen gnomAD
rs1288667929 CA365768678	497	A>T		No	ClinGen TOPMed gnomAD
CA365768650 rs1356304112	501	L>V		No	ClinGen gnomAD
rs752587841 CA4017119	502	F>Y		No	ClinGen ExAC gnomAD
rs1021539883 CA148199594	506	T>A		No	ClinGen TOPMed
CA4017118 rs767187441	506	T>I		No	ClinGen ExAC gnomAD
CA365768611 rs1481900788	507	P>S		No	ClinGen Ensembl
rs1423918504 CA365768575	510	Y>F		No	ClinGen gnomAD
rs1190207303 CA365768560	512	K>N		No	ClinGen gnomAD
rs776738709 CA4017092	514	I>V		No	ClinGen ExAC TOPMed gnomAD
COSM1545285 CA365768543 rs1472746060	515	V>A	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs747447839 CA4017090	518	I>V		No	ClinGen ExAC gnomAD
rs1469329208 CA365768518	519	L>*		No	ClinGen gnomAD
CA365768514 rs2076260	519	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2076260 CA365768515	519	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365768471 rs1458492458	525	V>A		No	ClinGen TOPMed
CA148197219 rs986103553	525	V>M		No	ClinGen Ensembl
rs147722575 CA4017086	528	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs147722575 CA4017087	528	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs953097798 CA148197199	529	T>A		No	ClinGen Ensembl
CA4017085 rs367586343	529	T>I		No	ClinGen ExAC gnomAD
CA148197190 rs78798199	530	E>D		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA4017084 rs145520401	531	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs780824566 CA4017083	532	P>H		No	ClinGen ExAC gnomAD
rs754620024 CA4017082	534	A>G		No	ClinGen ExAC gnomAD
CA365768421 rs1399491012	534	A>T		No	ClinGen gnomAD
rs766136288 CA4017080	535	K>*		No	ClinGen ExAC gnomAD
rs766136288 CA365768417	535	K>E		No	ClinGen ExAC gnomAD
CA365768413 rs1174729881	535	K>N		No	ClinGen gnomAD
CA365768418 rs766136288	535	K>Q		No	ClinGen ExAC gnomAD
CA4017079 rs758397409	536	Q>K		No	ClinGen ExAC gnomAD
CA365768388 rs1426795695	539	V>L		No	ClinGen gnomAD
rs1447188436 CA365768383	540	D>N		No	ClinGen TOPMed
CA4017077 rs765169504	542	W>R		No	ClinGen ExAC gnomAD
rs1238107071 CA365768342	545	F>L		No	ClinGen gnomAD
CA365768324 rs1562584869	548	E>K		No	ClinGen Ensembl
CA4017075 rs776848475	549	A>V		No	ClinGen ExAC gnomAD
rs764472894 CA4017074	551	K>R		No	ClinGen ExAC gnomAD
CA4017072 rs139583838	553	D>N		No	ClinGen ESP ExAC gnomAD
rs374226422 CA148197105	557	V>I		No	ClinGen ESP TOPMed
rs777805034 CA4017040	567	T>I		No	ClinGen ExAC gnomAD
CA365767871 rs1448732509	569	I>V		No	ClinGen gnomAD
rs1583346390 CA365767829	575	L>M		No	ClinGen Ensembl
CA4017037 rs767696431	577	I>V		No	ClinGen ExAC TOPMed gnomAD
rs759789564 CA4017036	578	N>H		No	ClinGen ExAC gnomAD
rs766734935 CA4017035	581	V>A		No	ClinGen ExAC TOPMed gnomAD
rs766734935 CA365767784	581	V>D		No	ClinGen ExAC TOPMed gnomAD
rs766734935 CA4017034	581	V>G		No	ClinGen ExAC TOPMed gnomAD
CA365767771 rs1266471180	583	E>G		No	ClinGen gnomAD
CA365767775 rs1428660960	583	E>K		No	ClinGen TOPMed
CA365767766 rs1207808207	584	K>E		No	ClinGen gnomAD
CA4017033 rs763259352	586	I>V		No	ClinGen ExAC gnomAD
CA365767744 rs1273678916	587	S>C		No	ClinGen TOPMed gnomAD
rs1305122508 CA365767747	587	S>T		No	ClinGen TOPMed
CA4017032 rs773726729	589	W>C		No	ClinGen ExAC gnomAD
CA4017030 rs760179645	591	V>M		No	ClinGen ExAC gnomAD
rs1227786283 CA365767674	592	L>P		No	ClinGen gnomAD
CA365767678 rs1400670112	592	L>V		No	ClinGen gnomAD
rs775054675 CA4017029	593	P>L		No	ClinGen ExAC TOPMed gnomAD
rs775054675 CA365767662	593	P>R		No	ClinGen ExAC TOPMed gnomAD
CA365767664 rs1330127225	593	P>S		No	ClinGen gnomAD
rs771674355 CA4017028	594	D>E		No	ClinGen ExAC TOPMed gnomAD
CA4017027 rs745506571	595	D>A		No	ClinGen ExAC TOPMed gnomAD
rs767090522 CA4017008	597	K>E		No	ClinGen ExAC gnomAD
CA148187915 rs192968107	598	G>C		No	ClinGen 1000Genomes
rs1443696385 CA365767174	599	I>V		No	ClinGen TOPMed gnomAD
CA148187912 rs961648371	600	H>R		No	ClinGen Ensembl
CA365767152 rs1562572247	602	W>R		No	ClinGen Ensembl
rs563427075 CA4017007	605	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA4017006 rs147386447	605	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs770641430 CA4017005	609	V>L		No	ClinGen ExAC gnomAD
CA148187903 rs375647387	610	R>K		No	ClinGen Ensembl
CA148187902 rs896408388	611	G>E		No	ClinGen TOPMed
CA148186590 rs977087093	616	K>E		No	ClinGen TOPMed gnomAD
CA365766979 rs1286774711	616	K>T		No	ClinGen TOPMed gnomAD
CA365766921 rs1206301304	623	F>L		No	ClinGen gnomAD
CA4016983 rs761462059	626	V>L		No	ClinGen ExAC gnomAD
rs776641105 CA4016982	627	L>H		No	ClinGen ExAC gnomAD
rs267600835 CA148186584	632	D>N		No	ClinGen Ensembl
rs1229094960 CA365766810	633	F>S		No	ClinGen TOPMed
rs1277744037 CA365766775	635	I>V		No	ClinGen gnomAD
rs1562569400 CA365766717	638	C>Y		No	ClinGen Ensembl
CA365766683 rs1397921134	640	E>G		No	ClinGen TOPMed gnomAD
CA148186580 rs1021279228	645	K>R		No	ClinGen TOPMed
rs1402247117 CA365766481	649	M>V		No	ClinGen TOPMed
CA365766458 rs1436635225	652	T>A		No	ClinGen gnomAD
rs1344900901 CA365766445	654	T>A		No	ClinGen TOPMed
CA4016959 rs745890001	654	T>I		No	ClinGen ExAC gnomAD
rs1218432248 CA365766441 COSM1698061	655	E>K	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs375252410 CA4016958	655	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA365766417 rs1305339619	658	G>R		No	ClinGen gnomAD
CA148185833 rs576696723	660	S>N		No	ClinGen TOPMed gnomAD
rs749722070 CA4016956	661	T>I		No	ClinGen ExAC gnomAD
CA365766388 rs1443681992	662	E>V		No	ClinGen gnomAD
CA148185822 rs925946753	663	E>G		No	ClinGen TOPMed
rs867266312 CA148185827	663	E>K		No	ClinGen Ensembl
rs1291989262 CA365766376	664	G>E		No	ClinGen TOPMed
rs1354769739 CA365766372	665	D>H		No	ClinGen gnomAD
rs756682561 CA4016954	668	S>N		No	ClinGen ExAC gnomAD
rs753284190 CA148185816	669	D>E		No	ClinGen ExAC TOPMed gnomAD
CA365764814 rs1258738778	673	Y>C		No	ClinGen gnomAD
CA365764813 rs1258738778	673	Y>F		No	ClinGen gnomAD
rs372654498 CA148180614	675	Y>C		No	ClinGen ESP
rs1562555241 CA365764785	677	Y>C		No	ClinGen Ensembl
rs770073908 CA4016938	677	Y>D		No	ClinGen ExAC TOPMed gnomAD
rs770073908 CA4016937	677	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA4016933 rs192023245	678	D>E		No	ClinGen 1000Genomes TOPMed gnomAD
rs781765627 CA4016936	678	D>H		No	ClinGen ExAC gnomAD
rs781765627 CA4016935	678	D>N		No	ClinGen ExAC gnomAD
CA4016932 rs745427820	684	V>D		No	ClinGen ExAC gnomAD
rs745427820 CA4016931	684	V>G		No	ClinGen ExAC gnomAD
rs149689638 CA4016929	685	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365764706 rs1384770644	689	G>D		No	ClinGen gnomAD
rs3765258 CA4016928	691	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1455841947 CA365764690	692	G>R		No	ClinGen gnomAD
CA365764673 rs1383773529	694	V>A		No	ClinGen gnomAD
CA365764667 rs1156388054	695	Y>C		No	ClinGen TOPMed gnomAD
rs112178729 CA365764662	696	A>S		No	ClinGen TOPMed
rs112178729 CA148180560	696	A>T		No	ClinGen TOPMed
CA365764652 rs1459888198	698	R>G		No	ClinGen TOPMed gnomAD
CA365764650 rs1431849457	698	R>Q		No	ClinGen gnomAD
CA365764651 rs1459888198	698	R>W		No	ClinGen TOPMed gnomAD
rs1583288838 CA365764583	707	A>V		No	ClinGen Ensembl
rs139733824 CA4016922	708	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs367796749 CA4016921	709	K>E		No	ClinGen ESP ExAC gnomAD
CA365764522 rs1188002500	716	S>N		No	ClinGen gnomAD
rs1390832693 CA365763862	724	E>D		No	ClinGen gnomAD
CA365763849 rs1300181141	726	I>T		No	ClinGen gnomAD
rs1394608705 CA365763853	726	I>V		No	ClinGen gnomAD
CA365763824 rs1465826740	730	K>E		No	ClinGen TOPMed
CA365763794 rs1394303423	734	H>Y		No	ClinGen gnomAD
rs761064226 CA4016895	735	K>R		No	ClinGen ExAC gnomAD
CA148177478 rs997352828	737	I>T		No	ClinGen TOPMed
rs1455555915 CA365763757	739	Q>R		No	ClinGen gnomAD
rs772628943 CA4016893	742	G>D		No	ClinGen ExAC gnomAD
CA365763715 rs1279604302	745	S>T		No	ClinGen gnomAD
CA4016892 rs748811001	748	G>R		No	ClinGen ExAC gnomAD
rs748811001 CA365763696	748	G>S		No	ClinGen ExAC gnomAD
rs202151783 CA4016891	751	K>N		No	ClinGen ExAC gnomAD
rs1430838601 CA365763658	753	F>S		No	ClinGen TOPMed gnomAD
CA4016890 rs769480095	757	V>I		No	ClinGen ExAC gnomAD
CA4016889 rs747832623	760	G>R		No	ClinGen ExAC TOPMed gnomAD
rs750404207 CA4016865	762	L>V		No	ClinGen ExAC gnomAD
CA4016864 rs778938171	763	S>A		No	ClinGen ExAC
CA365763578 rs1416853885	764	A>T		No	ClinGen gnomAD
rs757418759 CA4016863	767	R>C		No	ClinGen ExAC gnomAD
CA4016862 COSM739948 rs114243010	767	R>H	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA365763552 rs1232776105	768	S>C		No	ClinGen TOPMed
rs865877553 CA148177034	772	P>S		No	ClinGen Ensembl
rs868231630 CA148177027	780	I>F		No	ClinGen Ensembl
rs767958037 CA4016858	783	Y>S		No	ClinGen ExAC gnomAD
rs542856542 CA4016856	785	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA4016853 rs776101447	792	K>I		No	ClinGen ExAC TOPMed gnomAD
CA365763382 rs1271339108	792	K>N		No	ClinGen gnomAD
CA148177003 rs941642148	793	Y>H		No	ClinGen Ensembl
rs1356306234 CA365763359	796	D>N		No	ClinGen gnomAD
rs138095094 CA4016850	802	R>Q		No	ClinGen ESP ExAC TOPMed
CA148177002 rs990681530	802	R>W		No	ClinGen TOPMed gnomAD
CA365763302 rs1192574054	804	I>L		No	ClinGen TOPMed
CA365763298 rs1392905573	804	I>M		No	ClinGen TOPMed
CA365763260 rs1233524238	808	N>S		No	ClinGen gnomAD
rs1583271425 CA365763220	812	N>S		No	ClinGen Ensembl
rs763427901 CA4016836	817	V>I		No	ClinGen ExAC gnomAD
CA148176296 rs763427901	817	V>L		No	ClinGen ExAC gnomAD
CA365763116 rs1421586988	820	I>V		No	ClinGen TOPMed
rs776158558 CA4016835	823	F>S		No	ClinGen ExAC TOPMed gnomAD
rs760052487 CA4016833	824	G>E		No	ClinGen ExAC gnomAD
CA365763059 rs1169590839	824	G>R		No	ClinGen TOPMed gnomAD
CA4016831 rs771621192	827	K>T		No	ClinGen ExAC gnomAD
CA365762994 rs1488812338	829	L>V		No	ClinGen gnomAD
rs745715665 CA4016830	830	A>G		No	ClinGen ExAC TOPMed gnomAD
CA365762984 rs1231547423	830	A>T		No	ClinGen TOPMed
CA4016829 rs774266777	831	G>D		No	ClinGen ExAC gnomAD
CA4016828 rs771035804	832	I>V		No	ClinGen ExAC TOPMed gnomAD
rs777806942 CA4016827	833	N>K		No	ClinGen ExAC gnomAD
CA365762933 rs1233228867 COSM78049	834	P>S	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1214515132 CA365762848	840	T>I		No	ClinGen TOPMed
rs943615299 CA148173545	841	G>A		No	ClinGen TOPMed
rs748313166 CA4016806	845	Y>C		No	ClinGen ExAC gnomAD
rs768905782 CA4016804	849	E>Q		No	ClinGen ExAC gnomAD
CA365761814 rs1562540410	850	I>K		No	ClinGen Ensembl
rs987623663 CA148173522	851	I>V		No	ClinGen TOPMed
CA365761777 rs1311236242	855	P>L		No	ClinGen Ensembl
rs780199243 CA4016802	859	G>R		No	ClinGen ExAC gnomAD
rs758775050 CA4016801	861	A>E		No	ClinGen ExAC gnomAD
rs750784151 CA4016800	862	A>T		No	ClinGen ExAC gnomAD
CA365761724 rs1259404285	864	I>L		No	ClinGen gnomAD
CA365761723 rs1259404285	864	I>V		No	ClinGen gnomAD
rs959601291 CA148173512	865	W>*		No	ClinGen Ensembl
rs961557395 CA148173484	871	I>V		No	ClinGen TOPMed
CA4016796 rs766970779	876	T>A		No	ClinGen ExAC
rs1231113610 CA365761627	878	K>R		No	ClinGen gnomAD
rs542820765 CA4016795	879	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs369430560 CA4016794	880	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1295118475 CA365761537	891	M>I		No	ClinGen TOPMed
CA148173471 rs377276921	891	M>V		No	ClinGen ESP TOPMed gnomAD
rs762905591 CA4016792	892	F>L		No	ClinGen ExAC gnomAD
CA4016783 rs772270663	896	M>I		No	ClinGen ExAC gnomAD
rs146249664 CA4016781	901	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA148172312 rs367981412	903	I>V		No	ClinGen ESP TOPMed
CA148172309 rs995489776	905	E>G		No	ClinGen TOPMed gnomAD
rs768974810 CA148172307	908	S>F		No	ClinGen gnomAD
CA4016780 rs757605848	909	A>T		No	ClinGen ExAC gnomAD
rs749784696 CA4016779	910	E>G		No	ClinGen ExAC gnomAD
CA365761136 rs1342734453	912	K>R		No	ClinGen TOPMed
rs754543386 CA4016777	913	A>T		No	ClinGen ExAC gnomAD
rs1194921719 CA365761108	916	L>R		No	ClinGen gnomAD
CA4016776 rs373861443	920	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1250009415 CA365761067	922	D>G		No	ClinGen gnomAD
rs1459835548 CA365761062	923	P>T		No	ClinGen gnomAD
rs547820632 CA4016775	927	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA148172302 rs922756941	927	A>T		No	ClinGen TOPMed
CA4016774 rs758099598	928	C>F		No	ClinGen ExAC TOPMed gnomAD
rs764971591 CA4016772	931	D>G		No	ClinGen ExAC gnomAD
COSM1073725 rs141775434 CA4016773	931	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1050799708 CA365760973	934	V>F		No	ClinGen gnomAD
CA148172283 rs1050799708	934	V>L		No	ClinGen gnomAD
rs1321255433 CA365760927	937	F>S		No	ClinGen TOPMed
rs1219643347 CA365760903	938	L>F		No	ClinGen TOPMed
rs1234343844 CA365760899	939	K>E		No	ClinGen gnomAD
rs776447023 CA4016770	941	S>A		No	ClinGen ExAC gnomAD
rs763952521 CA4016769	941	S>L		No	ClinGen ExAC TOPMed gnomAD
rs775525063 CA4016767	942	S>N		No	ClinGen ExAC gnomAD
CA4016766 rs772322089	943	K>R		No	ClinGen ExAC gnomAD
rs568859613 CA4016765	944	K>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1194150236 CA365760795	946	K>E		No	ClinGen TOPMed
CA4016764 rs187053454	947	T>A		No	ClinGen 1000Genomes ExAC
rs1437128126 CA365760772	947	T>I		No	ClinGen TOPMed gnomAD
CA148172248 rs9483934	950	K>N		No	ClinGen ESP ExAC gnomAD
rs749604291 CA4016762	951	L>P		No	ClinGen ExAC TOPMed gnomAD
CA4016759 rs746562785	952	S>*		No	ClinGen ExAC TOPMed gnomAD
rs143732330 CA4016760	952	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4016761 rs143732330	952	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs767609105 CA4016748	953	A>V		No	ClinGen ExAC gnomAD
rs551868809 CA4016747	955	S>A		No	ClinGen 1000Genomes ExAC gnomAD
CA4016746 rs774445140	956	A>P		No	ClinGen ExAC gnomAD
rs1444643848 CA365760689	957	G>E		No	ClinGen gnomAD
CA365760692 rs1186212659	957	G>R		No	ClinGen gnomAD
rs771184236 CA4016745	959	N>D		No	ClinGen ExAC gnomAD
rs763281369 CA4016744	959	N>I		No	ClinGen ExAC gnomAD
rs991372678 CA148629897	960	E>D		No	ClinGen Ensembl
CA148629896 rs148954590	961	Y>C		No	ClinGen ESP
rs1201570585 CA365855549	962	L>F		No	ClinGen gnomAD
CA4016699 rs750685752	965	I>V		No	ClinGen ExAC gnomAD
CA4016698 rs765487136	967	L>*		No	ClinGen ExAC gnomAD
rs764549591 CA4016695 COSM4139121	968	P>L	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4016696 rs777122077	968	P>T		No	ClinGen ExAC gnomAD
rs1228036066 CA365855508	969	V>I		No	ClinGen gnomAD
rs1305184865 CA365855497	970	P>L		No	ClinGen gnomAD
CA365855502 rs1377418014	970	P>S		No	ClinGen gnomAD
CA365855455 rs761275698	974	E>D		No	ClinGen ExAC gnomAD
rs1361390857 CA365855469	974	E>K		No	ClinGen TOPMed
CA365855467 rs1361390857	974	E>Q		No	ClinGen TOPMed
CA365855440 rs1317295881	975	D>E		No	ClinGen TOPMed
rs1344738703 CA365855449	975	D>N		No	ClinGen TOPMed gnomAD
CA4016693 rs775814001	976	T>A		No	ClinGen ExAC gnomAD
CA4016692 rs770489589	978	S>G		No	ClinGen ExAC TOPMed gnomAD
CA365855407 rs1412889746	978	S>N		No	ClinGen gnomAD
CA148629893 rs779949670	981	E>A		No	ClinGen Ensembl
CA148629892 rs981140047	981	E>D		No	ClinGen Ensembl
rs748732627 CA4016691	981	E>K		No	ClinGen ExAC gnomAD
CA365855327 rs1381998206	983	G>D		No	ClinGen TOPMed
CA4016689 rs200595565	983	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4016688 rs553652137	984	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365855304 rs1583235534	985	V>G		No	ClinGen Ensembl
rs754685628 CA4016686	985	V>I		No	ClinGen ExAC gnomAD
rs779795211 CA4016685	987	P>A		No	ClinGen ExAC TOPMed gnomAD
rs758555880 CA148629891	987	P>H		No	ClinGen ExAC gnomAD
rs758555880 CA4016683	987	P>R		No	ClinGen ExAC gnomAD
rs779795211 CA4016684	987	P>S		No	ClinGen ExAC TOPMed gnomAD
rs779795211 CA365855286	987	P>T		No	ClinGen ExAC TOPMed gnomAD
rs764542733 CA4016679	988	D>E		No	ClinGen ExAC gnomAD
rs201678646 CA4016681	988	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201678646 CA4016680	988	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs996373392 CA148629890	989	T>M		No	ClinGen gnomAD
CA4016675 rs373598016	990	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
COSM110247 rs151005608 CA148629889	992	K>I	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs762512064 CA4016673	994	D>E		No	ClinGen ExAC
rs1282787956 CA365855077	1001	R>I		No	ClinGen gnomAD
rs768508180 CA4016667	1003	K>T		No	ClinGen ExAC gnomAD
rs1008891797 CA148629888	1005	C>Y		No	ClinGen gnomAD
VAR_040693 CA4016665 rs45626535	1006	G>R		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA4016664 rs758396472	1006	G>V		No	ClinGen ExAC gnomAD
rs1562529726 CA365855002	1007	E>K		No	ClinGen Ensembl
CA148629887 rs1011010345	1009	D>G		No	ClinGen Ensembl
rs200843890 CA4016662	1010	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1583235246 CA365854980	1010	V>I		No	ClinGen Ensembl
CA365854972 rs1207752459	1011	K>R		No	ClinGen gnomAD
CA4016661 rs757363563	1012	G>R		No	ClinGen ExAC gnomAD
rs142653089 CA148629886	1013	I>T		No	ClinGen ESP gnomAD
CA4016660 rs754104930	1014	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA148629885 rs1046666566	1016	L>F		No	ClinGen Ensembl
CA365854927 rs1273180452	1018	L>F		No	ClinGen gnomAD
CA365854924 rs1231250981	1019	G>C		No	ClinGen gnomAD
rs1172700229 CA365854893	1022	D>N		No	ClinGen TOPMed
rs778936503 CA4016644	1023	E>K		No	ClinGen ExAC gnomAD
rs147738730 CA4016642	1024	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA365854836 rs1409411718	1029	S>I		No	ClinGen gnomAD
CA365854837 rs1409411718	1029	S>T		No	ClinGen gnomAD
CA365854830 rs1390308745	1030	A>D		No	ClinGen TOPMed
rs1326347547 CA365854794	1036	E>Q		No	ClinGen TOPMed
COSM1073721 rs756271841 CA4016640	1038	D>Y	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs753150130 CA4016639	1039	S>F		No	ClinGen ExAC gnomAD
CA4016638 rs781563897	1040	G>V		No	ClinGen ExAC gnomAD
rs1377693952 CA365854744	1043	M>L		No	ClinGen TOPMed gnomAD
CA365854741 rs1158013979	1043	M>T		No	ClinGen gnomAD
rs1377693952 CA365854745	1043	M>V		No	ClinGen TOPMed gnomAD
rs987239615 CA148629882	1046	K>R		No	ClinGen TOPMed
rs761451391 CA4016634	1051	R>*		No	ClinGen ExAC
CA4016633 rs753274119	1051	R>L		No	ClinGen ExAC gnomAD
CA4016630 rs368851337	1057	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA148629881 rs1008783754	1057	I>T		No	ClinGen Ensembl
rs1255998018 CA365854650	1057	I>V		No	ClinGen gnomAD
rs1020957009 CA365854638	1059	T>K		No	ClinGen TOPMed gnomAD
CA148629880 rs1020957009	1059	T>M		No	ClinGen TOPMed gnomAD
CA365854622 rs1228044383	1061	D>E		No	ClinGen TOPMed gnomAD
rs1327296059 CA365854619	1062	Q>E		No	ClinGen TOPMed gnomAD
rs1479313753 CA365854614	1062	Q>H		No	ClinGen TOPMed
rs1228720363 CA365854603	1064	K>E		No	ClinGen gnomAD
CA365854587 rs1339642375	1066	V>L		No	ClinGen gnomAD
CA365854581 rs1381934833	1067	R>K		No	ClinGen gnomAD
CA4016624 rs777687441	1070	M>I		No	ClinGen ExAC
rs753497020 CA4016625	1070	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1164136938 CA365854501	1077	A>S		No	ClinGen TOPMed
CA4016598 rs199742266	1080	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4016599 rs780249179	1080	P>S		No	ClinGen ExAC gnomAD
rs1319840298 CA365854474	1081	K>T		No	ClinGen TOPMed
rs1226076682 CA570745944	1084	W>F		No	ClinGen gnomAD
rs746374533 CA4016597	1084	W>G		No	ClinGen ExAC gnomAD
CA365854440 rs1023432723	1086	H>D		No	ClinGen TOPMed gnomAD
CA148628949 rs1023432723	1086	H>Y		No	ClinGen TOPMed gnomAD
rs1013766416 CA148628948	1087	I>L		No	ClinGen TOPMed
CA365854425 rs1462066649	1088	T>S		No	ClinGen gnomAD
rs757121065 CA148628947	1091	I>M		No	ClinGen Ensembl
CA365854405 rs1351521256	1091	I>T		No	ClinGen Ensembl
CA4016596 rs555462050	1099	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA4016595 rs200262237	1101	T>S		No	ClinGen ExAC TOPMed gnomAD
rs78303756 CA4016593	1103	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1562523119 CA365854324	1104	K>E		No	ClinGen Ensembl
rs1366578537 CA365854306	1106	I>R		No	ClinGen gnomAD
rs1031150325 CA148628946	1106	I>V		No	ClinGen TOPMed gnomAD
CA365854293 COSM421062 rs1428358797	1108	T>I	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA365854295 rs1428358797	1108	T>N		No	ClinGen gnomAD
CA4016589 rs762746909	1111	S>T		No	ClinGen ExAC
CA4016587 rs765214119	1112	K>T		No	ClinGen ExAC gnomAD
rs1583219618 CA365854260	1114	K>T		No	ClinGen Ensembl
CA365854234 rs1218841742	1118	D>G		No	ClinGen TOPMed
rs747262443 CA4016584	1119	F>L		No	ClinGen ExAC TOPMed gnomAD
rs772328324 CA4016581	1120	D>A		No	ClinGen ExAC gnomAD
rs775731998 CA4016582	1120	D>N		No	ClinGen ExAC gnomAD
rs746238400 CA4016580	1121	S>G		No	ClinGen ExAC TOPMed gnomAD
CA365854206 rs1240075762	1122	H>R		No	ClinGen TOPMed
rs779344663 CA4016579	1125	S>G		No	ClinGen ExAC gnomAD
rs1317468332 CA365854131	1133	G>V		No	ClinGen gnomAD
rs1246921217 CA365854092	1136	D>G		No	ClinGen gnomAD
CA4016562 rs772323131	1139	N>S		No	ClinGen ExAC TOPMed gnomAD
CA365853556 rs1443601539	1140	K>E		No	ClinGen gnomAD
CA4016561 rs371137712	1140	K>R		No	ClinGen ESP ExAC gnomAD
COSM1698060 CA4016559 rs771379166	1143	R>W	skin breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1460166321 CA365853527	1144	N>K		No	ClinGen TOPMed
CA4016558 rs749831326	1145	H>R		No	ClinGen ExAC TOPMed gnomAD
rs768290478 CA4016556	1152	M>T		No	ClinGen ExAC gnomAD
rs1316305928 CA365853443	1156	D>N		No	ClinGen TOPMed
rs779633360 CA4016555	1157	S>I		No	ClinGen ExAC gnomAD
rs779633360 CA4016554	1157	S>N		No	ClinGen ExAC gnomAD
CA365853427 rs1228272321	1158	I>T		No	ClinGen gnomAD
CA365853429 rs1399052248	1158	I>V		No	ClinGen TOPMed
CA365853415 rs1377539210	1160	R>W		No	ClinGen TOPMed gnomAD
CA4016553 rs758049567	1162	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4016550 rs756997652	1163	V>I		No	ClinGen ExAC gnomAD
rs756997652 CA4016551	1163	V>L		No	ClinGen ExAC gnomAD
rs914326488 CA148628627	1165	T>A		No	ClinGen Ensembl
CA365853383 rs1345591878	1165	T>I		No	ClinGen gnomAD
CA4016549 rs753786493 COSM1073701	1166	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs764014077 CA4016548	1167	I>V		No	ClinGen ExAC gnomAD
CA365851663 rs1583193843	1176	P>S		No	ClinGen Ensembl
rs1481023371 CA365851416	1188	D>H		No	ClinGen gnomAD
CA4016518 rs765888315	1194	V>I		No	ClinGen ExAC gnomAD
rs771626007 CA4016516	1196	D>G		No	ClinGen ExAC TOPMed gnomAD
CA4016515 rs771626007	1196	D>V		No	ClinGen ExAC TOPMed gnomAD
rs745309811 CA4016514	1198	H>R		No	ClinGen ExAC gnomAD
rs770547754 CA4016512	1201	Q>H		No	ClinGen ExAC gnomAD
CA365851211 rs1309111823	1201	Q>L		No	ClinGen gnomAD
rs1028433624 CA148627319	1202	P>S		No	ClinGen TOPMed
CA365851173 rs1300529688	1204	N>S		No	ClinGen gnomAD
CA365851178 rs1400902767	1204	N>Y		No	ClinGen gnomAD
CA4016511 rs749120038	1206	T>S		No	ClinGen ExAC gnomAD
CA4016510 rs777574329	1208	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs755814833 CA4016509	1209	R>S		No	ClinGen ExAC TOPMed gnomAD
rs755814833 CA365851103	1209	R>S		No	ClinGen ExAC TOPMed gnomAD
CA148627317 rs965336708	1212	A>T		No	ClinGen TOPMed gnomAD
rs1362387246 CA365851061	1213	V>I		No	ClinGen gnomAD
rs1380393199 CA365851038	1214	I>M		No	ClinGen TOPMed
CA4016508 rs56379668	1214	I>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4016507 rs56379668 VAR_040694	1214	I>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1420152571 CA365850980	1219	A>P		No	ClinGen gnomAD
rs755156046 CA4016506	1220	T>N		No	ClinGen ExAC TOPMed gnomAD
CA365850929 rs1583193588	1223	V>G		No	ClinGen Ensembl
CA4016504 rs766760055	1223	V>M		No	ClinGen ExAC TOPMed gnomAD
CA148627316 rs139070587	1224	S>T		No	ClinGen ESP gnomAD
rs927431694 CA148627315	1225	T>M		No	ClinGen TOPMed gnomAD
rs981713268 CA148627314	1229	T>A		No	ClinGen TOPMed gnomAD
CA365850882 rs981713268	1229	T>P		No	ClinGen TOPMed gnomAD
rs765658251 CA4016501	1230	V>M		No	ClinGen ExAC gnomAD
rs1583193517 CA365850865	1232	H>D		No	ClinGen Ensembl
CA4016498 rs764494575	1235	Q>*		No	ClinGen ExAC
CA365850839 rs1319515419	1235	Q>H		No	ClinGen gnomAD
rs201346343 CA4016497	1236	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1383288221 CA365850827	1237	A>V		No	ClinGen gnomAD
CA4016495 rs770386168	1238	H>R		No	ClinGen ExAC gnomAD
CA4016496 rs773818553	1238	H>Y		No	ClinGen ExAC gnomAD
rs199822722 CA365850818	1239	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs772790976 CA4016493	1239	R>Q		No	ClinGen ExAC gnomAD
rs199822722 CA4016494	1239	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA365850810 rs1446565283	1240	S>L		No	ClinGen gnomAD
CA4016491 rs747886519	1243	V>I		No	ClinGen ExAC TOPMed gnomAD
rs781253469 CA4016490	1245	L>F		No	ClinGen ExAC gnomAD
rs1205446539 CA365850776	1246	G>R		No	ClinGen TOPMed gnomAD
rs1436763359 CA365850772	1247	R>G		No	ClinGen TOPMed
rs1355362957 CA365850768	1247	R>M		No	ClinGen gnomAD
CA365850763 rs1583193299	1248	M>L		No	ClinGen Ensembl
CA365850755 rs1263678139	1249	K>E		No	ClinGen gnomAD
CA365850744 rs1359590055	1250	I>R		No	ClinGen gnomAD
rs35551087 CA4016489 RCV000911956 VAR_040695	1250	I>V		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4016487 rs780314142	1254	R>K		No	ClinGen ExAC gnomAD
CA148626827 rs865808936	1257	E>G		No	ClinGen Ensembl
rs1226574277 CA365850652	1257	E>K		No	ClinGen TOPMed gnomAD
CA365850636 rs1273288943	1258	E>*		No	ClinGen gnomAD
rs377276794 CA4016465	1261	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs267600832 CA4016466 COSM1073699	1261	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA365850484 rs1232051862	1268	A>T		No	ClinGen gnomAD
rs780084787 CA4016463	1271	H>R		No	ClinGen ExAC TOPMed gnomAD
CA4016464 rs746967448	1271	H>Y		No	ClinGen ExAC gnomAD
CA148626826 rs139944939	1272	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202097874 CA4016461 COSM1214435	1272	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA4016460 rs779243516	1273	A>P		No	ClinGen ExAC gnomAD
CA4016459 rs757390283	1274	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4016458 rs754049567	1279	Q>E		No	ClinGen ExAC gnomAD
rs897362577 CA148626824	1280	E>G		No	ClinGen Ensembl
CA4016457 rs778019644	1283	H>Y		No	ClinGen ExAC gnomAD
rs1490496940 CA365850290	1284	L>V		No	ClinGen gnomAD
rs756409475 CA4016456	1286	L>F		No	ClinGen ExAC TOPMed gnomAD
rs756409475 CA365850278	1286	L>I		No	ClinGen ExAC TOPMed gnomAD
rs753204008 CA4016455	1289	Q>R		No	ClinGen ExAC gnomAD
rs768003846 CA4016454	1290	P>T		No	ClinGen ExAC gnomAD
rs1400906111 CA365850243	1291	I>T		No	ClinGen gnomAD
rs1324774952 CA365850211	1293	I>T		No	ClinGen gnomAD
rs1245035249 CA365850214	1293	I>V		No	ClinGen gnomAD
CA148626754 rs267600831	1294	P>S		No	ClinGen Ensembl
CA4016434 rs752068787	1295	E>A		No	ClinGen ExAC TOPMed gnomAD
rs374573186 CA4016432	1298	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs374573186 CA4016433	1298	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs753439800 CA4016431	1300	H>R		No	ClinGen ExAC gnomAD
rs1470398244 CA365850140	1304	S>F		No	ClinGen gnomAD
CA365850135 rs1387675592	1305	G>D		No	ClinGen gnomAD
rs1010655812 CA148626753	1305	G>S		No	ClinGen TOPMed
CA4016430 rs771041533	1306	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1338330183 CA365850130	1306	T>I		No	ClinGen TOPMed
CA4016429 rs760605653	1308	T>I		No	ClinGen ExAC gnomAD
CA365850096 rs921817271	1311	S>C		No	ClinGen TOPMed gnomAD
rs921817271 CA148626751	1311	S>F		No	ClinGen TOPMed gnomAD
rs975901668 CA148626750	1314	T>A		No	ClinGen TOPMed gnomAD
VAR_040696 rs45599539 CA4016428	1314	T>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA365850080 rs975901668	1314	T>S		No	ClinGen TOPMed gnomAD
CA365850075 rs1183844612	1315	D>A		No	ClinGen gnomAD
VAR_040697 rs41288957 CA4016426	1315	D>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1317189222 CA365850052	1318	R>K		No	ClinGen TOPMed
CA4016425 rs774284829	1319	V>A		No	ClinGen ExAC TOPMed gnomAD
CA365850041 rs1263714790	1320	N>S		No	ClinGen gnomAD
rs1342321301 CA365850032	1321	G>A		No	ClinGen gnomAD
CA365850018 rs1214018920	1323	D>E		No	ClinGen gnomAD
CA365849996 rs1486868143	1326	T>S		No	ClinGen TOPMed
rs1319092037 CA365849998	1326	T>S		No	ClinGen gnomAD
rs1285654884 CA365849980	1328	S>R		No	ClinGen gnomAD
CA4016423 rs758011218	1329	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs773241677 CA4016401	1336	T>I		No	ClinGen ExAC gnomAD
rs1428622156 CA365849913	1337	L>I		No	ClinGen gnomAD
CA148626481 rs890732310	1340	V>I		No	ClinGen TOPMed gnomAD
CA365849878 rs1318049001	1342	Y>C		No	ClinGen gnomAD
rs776779277 CA148626480	1343	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA4016399 rs762049641	1343	Y>H		No	ClinGen ExAC gnomAD
CA4016398 rs776779277	1343	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs973510079 CA148626479	1346	R>L		No	ClinGen Ensembl
CA4016397 rs768908703	1347	D>G		No	ClinGen ExAC gnomAD
CA4016395 rs377091462	1351	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs772610535 CA4016394	1352	L>F		No	ClinGen ExAC gnomAD
rs1583177370 CA365849252	1363	W>*		No	ClinGen Ensembl
CA365849228 rs1333851332	1365	A>D		No	ClinGen gnomAD
CA365849226 rs1333851332	1365	A>V		No	ClinGen gnomAD
CA365849224 rs1309042597	1366	I>V		No	ClinGen gnomAD
rs768924733 CA4016371	1367	I>T		No	ClinGen ExAC TOPMed gnomAD
CA4016370 rs751129150	1370	R>*		No	ClinGen ExAC gnomAD
CA365849160 rs1243504360	1371	N>S		No	ClinGen TOPMed gnomAD
rs758073603 CA4016368	1375	T>W		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q99683

7 regional properties for Q99683

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	680 - 938	IPR000719
active_site	Serine/threonine-protein kinase, active site	799 - 811	IPR008271
binding_site	Protein kinase, ATP binding site	686 - 709	IPR017441
domain	MAP3K, TRAFs-binding domain	165 - 545	IPR025136
domain	MAP3K, PH domain	556 - 653	IPR043969
domain	MAP3K, deoxyribohydrolase domain	115 - 150	IPR046872
domain	MAP3K, HisK-N-like globin domain	1042 - 1173	IPR046873

Functions

		Description
EC Number	2.7.11.25	Protein-serine/threonine kinases
Subcellular Localization	Cytoplasm Endoplasmic reticulum	Interaction with 14-3-3 proteins alters the distribution of MAP3K5/ASK1 and restricts it to the perinuclear endoplasmic reticulum region
PANTHER Family	PTHR11584	SERINE/THREONINE PROTEIN KINASE
PANTHER Subfamily	PTHR11584:SF332	MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 5
PANTHER Protein Class	non-receptor serine/threonine protein kinase
PANTHER Pathway Category	Integrin signalling pathway ERK FAS signaling pathway ASK1 p38 MAPK pathway ASK1 Gonadotropin-releasing hormone receptor pathway MAP3Ks FGF signaling pathway MEKK1-5 EGF receptor signaling pathway MEKK1-5 Apoptosis signaling pathway ASK1

6 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
external side of plasma membrane	The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
IRE1-TRAF2-ASK1 complex	A protein complex of the endoplasmic reticulum membrane that consists of IRE1 (Inositol-requiring enzyme-1), TRAF2 (TNF receptor-associated factor 2) and ASK1 (Apoptosis signal-regulating kinase 1, a MAP3K).
protein kinase complex	A protein complex which is capable of protein kinase activity.
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.

13 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
identical protein binding	Binding to an identical protein or proteins.
JUN kinase kinase kinase activity	Catalysis of the reaction: JNKK + ATP = JNKK phosphate + ADP. This reaction is the phosphorylation and activation of JUN kinase kinases (JNKKs).
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 domain specific binding	Binding to a specific domain of a protein.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
protein kinase activity	Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
protein phosphatase binding	Binding to a protein phosphatase.
protein serine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
protein serine/threonine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
protein serine/threonine/tyrosine kinase activity	Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate.

30 GO annotations of biological process

Name	Definition
apoptotic signaling pathway	The series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered.
cellular response to amino acid starvation	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 deprivation of amino acids.
cellular response to hydrogen peroxide	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 hydrogen peroxide (H2O2) stimulus.
cellular response to reactive nitrogen 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 nitrogen species stimulus.
cellular response to tumor necrosis factor	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 tumor necrosis factor stimulus.
cellular senescence	A cell aging process stimulated in response to cellular stress, whereby normal cells lose the ability to divide through irreversible cell cycle arrest.
endothelial cell apoptotic process	Any apoptotic process in an endothelial cell. An endothelial cell comprises the outermost layer or lining of anatomical structures and can be squamous or cuboidal.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced in response to a stimulus indicating endoplasmic reticulum (ER) stress, and ends when the execution phase of apoptosis is triggered. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen.
intrinsic apoptotic signaling pathway in response to oxidative stress	The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced in response to oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, and ends when the execution phase of apoptosis is triggered.
JNK cascade	An intracellular protein kinase cascade containing at least a JNK (a MAPK), a JNKK (a MAPKK) and a JUN3K (a MAP3K). The cascade can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinases in the downstream tier to transmit a signal within a cell.
MAPK cascade	An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell.
p38MAPK cascade	An intracellular protein kinase cascade containing at least a p38 MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinases in the downstream tier to transmit a signal within a cell.
positive regulation of apoptotic process	Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.
positive regulation of cardiac muscle cell apoptotic process	Any process that increases the rate or extent of cardiac cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a cardiac muscle cell and result in its death.
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	Any process that activates or increases the activity of a cysteine-type endopeptidase involved in the apoptotic process.
positive regulation of JNK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the JNK cascade.
positive regulation of JUN kinase activity	Any process that activates or increases the frequency, rate or extent of JUN kinase activity.
positive regulation of myoblast differentiation	Any process that activates or increases the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers.
positive regulation of neuron death	Any process that activates or increases the frequency, rate or extent of neuron death.
positive regulation of p38MAPK cascade	Any process that activates or increases the frequency, rate or extent of p38MAPK cascade.
positive regulation of protein kinase activity	Any process that activates or increases the frequency, rate or extent of protein kinase activity.
positive regulation of transcription, DNA-templated	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of vascular associated smooth muscle cell proliferation	Any process that activates or increases the frequency, rate or extent of vascular smooth muscle cell proliferation.
programmed necrotic cell death	A necrotic cell death process that results from the activation of endogenous cellular processes, such as signaling involving death domain receptors or Toll-like receptors.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
response to endoplasmic reticulum 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 stress acting at the endoplasmic reticulum. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen.
response to ischemia	Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a inadequate blood supply.
stress-activated MAPK cascade	The series of molecular signals in which a stress-activated MAP kinase cascade relays a signal; MAP kinase cascades involve at least three protein kinase activities and culminate in the phosphorylation and activation of a MAP kinase.
wound healing	The series of events that restore integrity to a damaged tissue, following an injury.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O95382	MAP3K6	Mitogen-activated protein kinase kinase kinase 6	Homo sapiens (Human)	SS
Q6ZN16	MAP3K15	Mitogen-activated protein kinase kinase kinase 15	Homo sapiens (Human)	SS
Q9WTR2	Map3k6	Mitogen-activated protein kinase kinase kinase 6	Mus musculus (Mouse)	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

10	20	30	40	50	60
MSTEADEGIT	FSVPPFAPSG	FCTIPEGGIC	RRGGAAAVGE	GEEHQLPPPP	PGSFWNVESA
70	80	90	100	110	120
AAPGIGCPAA	TSSSSATRGR	GSSVGGGSRR	TTVAYVINEA	SQGQLVVAES	EALQSLREAC
130	140	150	160	170	180
ETVGATLETL	HFGKLDFGET	TVLDRFYNAD	IAVVEMSDAF	RQPSLFYHLG	VRESFSMANN
190	200	210	220	230	240
IILYCDTNSD	SLQSLKEIIC	QKNTMCTGNY	TFVPYMITPH	NKVYCCDSSF	MKGLTELMQP
250	260	270	280	290	300
NFELLLGPIC	LPLVDRFIQL	LKVAQASSSQ	YFRESILNDI	RKARNLYTGK	ELAAELARIR
310	320	330	340	350	360
QRVDNIEVLT	ADIVINLLLS	YRDIQDYDSI	VKLVETLEKL	PTFDLASHHH	VKFHYAFALN
370	380	390	400	410	420
RRNLPGDRAK	ALDIMIPMVQ	SEGQVASDMY	CLVGRIYKDM	FLDSNFTDTE	SRDHGASWFK
430	440	450	460	470	480
KAFESEPTLQ	SGINYAVLLL	AAGHQFESSF	ELRKVGVKLS	SLLGKKGNLE	KLQSYWEVGF
490	500	510	520	530	540
FLGASVLAND	HMRVIQASEK	LFKLKTPAWY	LKSIVETILI	YKHFVKLTTE	QPVAKQELVD
550	560	570	580	590	600
FWMDFLVEAT	KTDVTVVRFP	VLILEPTKIY	QPSYLSINNE	VEEKTISIWH	VLPDDKKGIH
610	620	630	640	650	660
EWNFSASSVR	GVSISKFEER	CCFLYVLHNS	DDFQIYFCTE	LHCKKFFEMV	NTITEEKGRS
670	680	690	700	710	720
TEEGDCESDL	LEYDYEYDEN	GDRVVLGKGT	YGIVYAGRDL	SNQVRIAIKE	IPERDSRYSQ
730	740	750	760	770	780
PLHEEIALHK	HLKHKNIVQY	LGSFSENGFI	KIFMEQVPGG	SLSALLRSKW	GPLKDNEQTI
790	800	810	820	830	840
GFYTKQILEG	LKYLHDNQIV	HRDIKGDNVL	INTYSGVLKI	SDFGTSKRLA	GINPCTETFT
850	860	870	880	890	900
GTLQYMAPEI	IDKGPRGYGK	AADIWSLGCT	IIEMATGKPP	FYELGEPQAA	MFKVGMFKVH
910	920	930	940	950	960
PEIPESMSAE	AKAFILKCFE	PDPDKRACAN	DLLVDEFLKV	SSKKKKTQPK	LSALSAGSNE
970	980	990	1000	1010	1020
YLRSISLPVP	VLVEDTSSSS	EYGSVSPDTE	LKVDPFSFKT	RAKSCGERDV	KGIRTLFLGI
1030	1040	1050	1060	1070	1080
PDENFEDHSA	PPSPEEKDSG	FFMLRKDSER	RATLHRILTE	DQDKIVRNLM	ESLAQGAEEP
1090	1100	1110	1120	1130	1140
KLKWEHITTL	IASLREFVRS	TDRKIIATTL	SKLKLELDFD	SHGISQVQVV	LFGFQDAVNK
1150	1160	1170	1180	1190	1200
VLRNHNIKPH	WMFALDSIIR	KAVQTAITIL	VPELRPHFSL	ASESDTADQE	DLDVEDDHEE
1210	1220	1230	1240	1250	1260
QPSNQTVRRP	QAVIEDAVAT	SGVSTLSSTV	SHDSQSAHRS	LNVQLGRMKI	ETNRLLEELV
1270	1280	1290	1300	1310	1320
RKEKELQALL	HRAIEEKDQE	IKHLKLKSQP	IEIPELPVFH	LNSSGTNTED	SELTDWLRVN
1330	1340	1350	1360	1370
GADEDTISRF	LAEDYTLLDV	LYYVTRDDLK	CLRLRGGMLC	TLWKAIIDFR	NKQT