AiPD: Autoinhibited Protein Database

Q9Y6R4

Gene name	MAP3K4 (KIAA0213, MAPKKK4, MEKK4, MTK1)
Protein name	Mitogen-activated protein kinase kinase kinase 4
Names	MAP three kinase 1, MAPK/ERK kinase kinase 4, MEK kinase 4, MEKK 4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4216
EC number	2.7.11.25: Protein-serine/threonine kinases
Protein Class	MAP KINASE KINASE KINASE SSK2-RELATED-RELATED (PTHR48016)

Descriptions

MAP3K4 is mitogen-activated protein kinase kinase kinase 4, activates two families of stress-responsive MAPKs, JNK and p38, in response to stimuli such as UV radiation, ionizing radiation, hyperosmolarity, oxidative stress, and translation inhibitors, as well as cytokines. MAP3K4 autoinhibitory region is located at residues 253 to 553 of N-terminal region. The MAP3K4 autoinhibitory region interacts with its C-terminal kinase domain via multiple interactions, thus preventing C-terminal kinase domain from interacting with its substrate, MKK6.

Autoinhibitory domains (AIDs)

Target domain	1343-1601 (Protein kinase domain)
Relief mechanism	Partner binding
Assay	Deletion assay, Mutagenesis experiment

AID

253-553 (Autoinhibitory region)

Target domain

1343-1601 (Protein kinase domain)

Relief mechanism

Partner binding (GADD45 protein binding to a site near the inhibitory domain)

Assay

Deletion assay, Mutagenesis experiment

Accessory elements

1480-1489 (Activation loop from InterPro)

Target domain	1343-1601 (Protein kinase domain)
Relief mechanism
Assay

1501-1507 (Activation loop from InterPro)

Target domain	1343-1601 (Protein kinase domain)
Relief mechanism
Assay

References

Mita H et al. (2002) "Regulation of MTK1/MEKK4 kinase activity by its N-terminal autoinhibitory domain and GADD45 binding", Molecular and cellular biology, 22, 4544-55

Autoinhibited structure

Activated structure

1 structures for Q9Y6R4

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9Y6R4-F1	Predicted				AlphaFoldDB

968 variants for Q9Y6R4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA366364197 rs1472838458	2	R>*		No	ClinGen gnomAD
rs1190053319 CA366364207	3	E>K		No	ClinGen gnomAD
rs566178445 CA4088090	4	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs796898723 CA151266400	5	A>V		No	ClinGen Ensembl
CA366364244 rs1474780343	6	A>S		No	ClinGen gnomAD
rs1046866185 CA366364252	7	A>P		No	ClinGen TOPMed gnomAD
rs1046866185 CA151266402	7	A>T		No	ClinGen TOPMed gnomAD
CA366364260 rs1402674543	7	A>V		No	ClinGen gnomAD
rs1393895663 CA366364262	8	L>M		No	ClinGen TOPMed
CA4088091 rs764292090	8	L>R		No	ClinGen ExAC gnomAD
CA366364291 rs1415457069	10	P>L		No	ClinGen gnomAD
rs1354152519 CA366364300	11	P>L		No	ClinGen TOPMed gnomAD
CA4088093 rs535214105	11	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA151266408 rs987696007	12	P>A		No	ClinGen TOPMed
CA151266409 rs1034240630	12	P>H		No	ClinGen gnomAD
CA366364308 rs1034240630	12	P>L		No	ClinGen gnomAD
CA4088094 rs779918463	13	A>T		No	ClinGen ExAC TOPMed gnomAD
CA366364317 rs1353208088	14	F>V		No	ClinGen gnomAD
CA151266413 rs958651224	21	A>D		No	ClinGen TOPMed gnomAD
CA366364396 rs1254721342	25	P>L		No	ClinGen TOPMed gnomAD
rs747668237 CA4088103	26	P>Q		No	ClinGen ExAC
rs777328154 CA4088105	27	P>S		No	ClinGen ExAC TOPMed gnomAD
COSM1075709 rs1468401616 COSM1075711 CA366364410	28	P>Q	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA366364418 rs1479044178	29	P>L		No	ClinGen TOPMed
rs771440561 CA4088110	30	P>S		No	ClinGen ExAC TOPMed gnomAD
CA151266430 rs968129628	31	P>L		No	ClinGen Ensembl
CA4088112 rs760137628	31	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1175628806 CA366364430	32	P>A		No	ClinGen TOPMed gnomAD
CA366364434 rs1373653009	32	P>L		No	ClinGen gnomAD
CA366364431 rs1175628806	32	P>S		No	ClinGen TOPMed gnomAD
rs1410011413 CA366364438	33	P>R		No	ClinGen TOPMed
CA4088114 rs770266097	33	P>S		No	ClinGen ExAC TOPMed gnomAD
CA151266434 rs978598646	34	P>L		No	ClinGen TOPMed gnomAD
CA4088117 rs762985464	38	P>A		No	ClinGen ExAC gnomAD
rs762985464 CA366364466	38	P>S		No	ClinGen ExAC gnomAD
CA151266436 rs955736890	39	E>K		No	ClinGen TOPMed gnomAD
rs1196374486 CA366364482	40	T>I		No	ClinGen gnomAD
CA366364489 rs1252558922	41	E>D		No	ClinGen gnomAD
rs1409801690 CA366364495	42	S>*		No	ClinGen TOPMed
CA366364516 rs1180866834	45	E>D		No	ClinGen gnomAD
CA4088120 rs760422915	45	E>Q		No	ClinGen ExAC gnomAD
rs942954858 CA151266442	46	C>F		No	ClinGen Ensembl
rs371606483 CA151266441	46	C>S		No	ClinGen Ensembl
rs766167051 CA4088121	47	C>G		No	ClinGen ExAC TOPMed gnomAD
rs766167051 CA4088122	47	C>R		No	ClinGen ExAC TOPMed gnomAD
rs868511310 CA151266444	49	A>V		No	ClinGen Ensembl
rs965500838 CA151285649	54	G>S		No	ClinGen TOPMed
rs752595912 CA4088146	55	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1036240076 CA151285658	56	L>W		No	ClinGen TOPMed gnomAD
CA4088147 rs757881893	59	S>L		No	ClinGen ExAC gnomAD
CA366370852 rs1488291158	60	A>V		No	ClinGen gnomAD
CA366370863 rs1205879128	62	K>E		No	ClinGen gnomAD
CA4088148 rs763697899	62	K>R		No	ClinGen ExAC TOPMed gnomAD
CA4088149 rs140612690	63	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs756969946 CA4088150	63	S>N		No	ClinGen ExAC gnomAD
CA366370877 rs746224218	64	P>L		No	ClinGen ExAC gnomAD
rs746224218 CA4088152	64	P>R		No	ClinGen ExAC gnomAD
CA4088151 COSM99076 rs147981479	64	P>S	stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA4088153 rs756458081	65	E>K		No	ClinGen ExAC gnomAD
rs201521742 CA4088154	67	D>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1562494438 CA366370926	71	F>L		No	ClinGen Ensembl
rs774400484 CA4088157	72	S>Y		No	ClinGen ExAC gnomAD
rs1583142912 CA366370935	73	D>G		No	ClinGen Ensembl
CA4088159 rs772248516	73	D>N		No	ClinGen ExAC TOPMed gnomAD
CA4088160 rs576717524	74	E>V		No	ClinGen 1000Genomes ExAC gnomAD
CA4088161 COSM330498 COSM330499 rs138686807	75	T>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA366370949 rs138686807	75	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA151285727 rs542541844	76	N>D		No	ClinGen 1000Genomes gnomAD
rs1167811446 CA366370954	76	N>S		No	ClinGen TOPMed
rs1317219687 CA366370963	77	T>I		No	ClinGen TOPMed gnomAD
rs1317219687 CA366370962	77	T>R		No	ClinGen TOPMed gnomAD
COSM1442029 rs141320593 COSM1442030 CA4088162	78	E>D	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA4088164 rs375597916	79	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs373356929 CA4088163	79	N>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1001513610 CA151285743	80	L>P		No	ClinGen Ensembl
CA4088165 rs764197140	82	G>D		No	ClinGen ExAC gnomAD
rs1486950115 CA366371002	84	S>P		No	ClinGen TOPMed gnomAD
CA366371014 rs1468792621	86	P>A		No	ClinGen TOPMed
rs150383557 CA151285768	86	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4088167 rs150383557	86	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA366371029 rs1160901243	88	T>R		No	ClinGen gnomAD
rs370191115 CA4088169 COSM258944 COSM258943	90	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs370191115 CA4088168	90	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA366371039 rs1173741367	90	R>Q		No	ClinGen gnomAD
CA151285832 rs935885817	92	M>I		No	ClinGen TOPMed
rs756434854 CA4088170	92	M>L		No	ClinGen ExAC gnomAD
rs780296189 CA4088171	92	M>R		No	ClinGen ExAC TOPMed gnomAD
CA4088172 rs754286552	94	R>C		No	ClinGen ExAC gnomAD
CA4088173 rs755472223 COSM360262 COSM360263	94	R>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA366371066 rs1364271078	95	M>L		No	ClinGen TOPMed
CA4088174 rs779435321	95	M>T		No	ClinGen ExAC TOPMed gnomAD
CA4088175 rs748203180	96	S>A		No	ClinGen ExAC gnomAD
rs966665823 CA151285862	98	K>R		No	ClinGen Ensembl
CA366371092 rs1334229611	99	H>N		No	ClinGen gnomAD
rs772158482 CA4088176	101	R>K		No	ClinGen ExAC gnomAD
rs778013907 CA4088177	102	N>K		No	ClinGen ExAC
CA366371121 rs1350144855	103	N>H		No	ClinGen TOPMed gnomAD
rs1209430009 CA366371128	103	N>K		No	ClinGen gnomAD
CA4088178 rs747196097	104	V>G		No	ClinGen ExAC gnomAD
rs371051658 CA151285885	104	V>M		No	ClinGen Ensembl
CA366371136 rs1481187623	105	G>E		No	ClinGen gnomAD
CA4088179 rs769570623	106	R>S		No	ClinGen ExAC gnomAD
CA366371169 rs1438709136	110	R>Q		No	ClinGen TOPMed gnomAD
CA366371166 rs1445621036	110	R>W		No	ClinGen TOPMed gnomAD
rs1193801374 CA366371177	112	N>D		No	ClinGen gnomAD
rs762851255 CA4088181	112	N>S		No	ClinGen ExAC gnomAD
CA4088245 rs767648919	115	E>G		No	ClinGen ExAC gnomAD
CA4088248 rs756401849	117	M>I		No	ClinGen ExAC gnomAD
CA4088247 rs373098253	117	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA151270295 rs1043473275	117	M>V		No	ClinGen Ensembl
rs1028774898 CA151270304	119	A>S		No	ClinGen TOPMed
rs780462998 CA4088249	119	A>V		No	ClinGen ExAC gnomAD
CA4088251 rs758235553	120	P>L		No	ClinGen ExAC gnomAD
CA4088250 rs747932422	120	P>S		No	ClinGen ExAC gnomAD
rs1213007442 CA366365500	121	N>Y		No	ClinGen gnomAD
rs903202788 CA151270308	122	Q>R		No	ClinGen Ensembl
CA4088253 rs746966746	123	P>L		No	ClinGen ExAC TOPMed gnomAD
CA151270317 rs746966746	123	P>R		No	ClinGen ExAC TOPMed gnomAD
rs777531829 CA4088252	123	P>S		No	ClinGen ExAC TOPMed gnomAD
CA366365542 rs1234342311	124	P>L		No	ClinGen TOPMed gnomAD
rs1213744606 CA366365536	124	P>S		No	ClinGen TOPMed
CA151270324 rs1030379644	125	H>R		No	ClinGen Ensembl
rs201877864 CA4088256	126	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769416947 CA4088257	130	K>R		No	ClinGen ExAC gnomAD
CA151270333 rs1017802332	132	V>M		No	ClinGen Ensembl
rs138893843 CA4088259	138	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1307728757 CA366365710	139	S>T		No	ClinGen TOPMed
CA4088260 rs769073806	140	Y>C		No	ClinGen ExAC
rs1297405775 CA366365730	142	Q>*		No	ClinGen TOPMed
CA4088264 rs200950731	147	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760885536 CA4088265	148	A>E		No	ClinGen ExAC gnomAD
CA4088267 rs766657862	149	A>S		No	ClinGen ExAC gnomAD
CA4088266 rs766657862	149	A>T		No	ClinGen ExAC gnomAD
CA4088268 rs376490887	150	L>I		No	ClinGen ESP ExAC gnomAD
CA4088269 rs777634514	152	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1196242465 CA366365806	154	E>A		No	ClinGen gnomAD
CA366365804 rs1344242821	154	E>Q		No	ClinGen gnomAD
rs749575718 CA4088271	155	R>C		No	ClinGen ExAC TOPMed gnomAD
rs201544851 CA4088272	155	R>H		No	ClinGen ExAC TOPMed gnomAD
rs745336443 CA4088273	156	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA4088274 VAR_059767 rs4559074	157	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4088277 rs768252574	160	N>H		No	ClinGen ExAC gnomAD
rs920263874 CA366365848	160	N>K		No	ClinGen TOPMed gnomAD
CA366365892 rs1422164026	166	M>I		No	ClinGen gnomAD
CA366365908 rs1330310545	168	D>E		No	ClinGen TOPMed gnomAD
CA366365902 rs1464369932	168	D>N		No	ClinGen gnomAD
CA366365915 rs1394802024	169	S>L		No	ClinGen gnomAD
rs1194874871 CA366365928	172	G>R		No	ClinGen TOPMed
CA366365965 rs1442583347	177	K>I		No	ClinGen gnomAD
CA366365968 rs1321022780	177	K>N		No	ClinGen gnomAD
CA151270389 rs937819994	178	S>P		No	ClinGen Ensembl
CA4088279 rs370691653	179	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs762126398 CA4088280	180	P>A		No	ClinGen ExAC gnomAD
rs1271838274 CA366365984	180	P>L		No	ClinGen gnomAD
rs1271838274 CA366365982	180	P>Q		No	ClinGen gnomAD
rs772683588 CA4088282	181	D>G		No	ClinGen ExAC gnomAD
rs772683588 CA4088281	181	D>V		No	ClinGen ExAC gnomAD
CA366365996 rs1322586075	182	V>G		No	ClinGen Ensembl
rs760797656 CA4088283	183	D>G		No	ClinGen ExAC gnomAD
CA366365999 rs1273532666	183	D>Y		No	ClinGen gnomAD
rs980552320 CA151270403	185	N>S		No	ClinGen TOPMed gnomAD
rs1562504705 CA366366076	194	S>N		No	ClinGen Ensembl
CA4088284 rs149423305	195	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1252753030 CA366366085	195	N>S		No	ClinGen TOPMed
CA4088286 rs759787332	196	A>T		No	ClinGen ExAC
CA366366092 rs1170438773	196	A>V		No	ClinGen gnomAD
CA151270410 rs946600760	197	K>E		No	ClinGen gnomAD
CA4088288 rs751335006	200	V>A		No	ClinGen ExAC gnomAD
rs1161086805 CA366366114	200	V>L		No	ClinGen gnomAD
CA4088291 rs374383867	203	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4088290 rs781069775	203	P>S		No	ClinGen ExAC gnomAD
CA4088293 rs147499694	204	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs201516583 CA151270427	205	P>R		No	ClinGen TOPMed
CA4088295 rs754629705	206	I>T		No	ClinGen ExAC TOPMed gnomAD
CA4088294 rs148565000	206	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA366366197 rs566089752	207	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs566089752 CA4088296	207	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1355779392 CA366366203	208	R>K		No	ClinGen gnomAD
CA4088297 rs748495003	209	P>A		No	ClinGen ExAC TOPMed gnomAD
CA366366228 rs1297848776	210	A>S		No	ClinGen gnomAD
rs772593909 CA4088298	211	R>H		No	ClinGen ExAC TOPMed gnomAD
rs773788469 CA4088299	213	T>A		No	ClinGen ExAC gnomAD
CA366366304 rs1425908001	215	R>K		No	ClinGen gnomAD
CA366366318 rs1185015702	215	R>S		No	ClinGen gnomAD
CA151270440 rs745454583	219	P>S		No	ClinGen Ensembl
CA4088301 COSM1442039 rs771620324 COSM1442040	230	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC
rs1313398654 CA366366679	234	K>N		No	ClinGen gnomAD
rs1394033814 CA366366742	240	K>E		No	ClinGen gnomAD
CA366366822 rs1455926624	245	E>G		No	ClinGen TOPMed
CA151270462 rs770800990	250	E>D		No	ClinGen Ensembl
COSM1075721 CA4088307 rs767318426 COSM1075723	252	T>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1216592999 CA366366930	253	S>A		No	ClinGen gnomAD
rs756041632 CA4088309	255	F>V		No	ClinGen ExAC TOPMed gnomAD
rs1484503192 CA366366964	256	W>R		No	ClinGen gnomAD
rs766268014 CA4088310	259	R>L		No	ClinGen ExAC
CA366367061 rs1255839286	264	I>V		No	ClinGen gnomAD
rs1180122571 CA366367150	271	W>R		No	ClinGen gnomAD
rs1198309225 CA366367172	272	H>L		No	ClinGen TOPMed
CA366367170 rs1198309225	272	H>R		No	ClinGen TOPMed
CA4088314 COSM207466 COSM207467 rs747759728	275	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA4088313 rs779426667	275	R>W		No	ClinGen ExAC TOPMed gnomAD
CA366367214 rs1260853584	276	T>P		No	ClinGen TOPMed gnomAD
CA151270496 rs996215258	277	I>V		No	ClinGen TOPMed gnomAD
CA366367241 rs1308504057	278	N>S		No	ClinGen TOPMed
rs368008176 CA4088317	279	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA366367270 rs1203852456	280	Q>E		No	ClinGen Ensembl
rs777050233 CA4088319	285	Y>C		No	ClinGen ExAC gnomAD
rs777050233 CA366367347	285	Y>F		No	ClinGen ExAC gnomAD
CA4088320 rs745923736	287	A>D		No	ClinGen ExAC gnomAD
CA4088321 rs370372146	288	R>C		No	ClinGen ESP ExAC gnomAD
COSM1075725 COSM1075727 CA4088322 rs775727719	288	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA366367375 rs1309243182	289	Q>R		No	ClinGen TOPMed
rs35842248 CA4088324 VAR_040686	294	I>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA366367450 COSM1662690 rs1375093226 COSM1662689	300	T>A	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed
rs760514634 CA4088326	300	T>I		No	ClinGen ExAC gnomAD
CA366367449 rs1375093226	300	T>S		No	ClinGen TOPMed
rs753749886 CA4088328	304	D>N		No	ClinGen ExAC gnomAD
rs754442037 CA4088329	305	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA4088330 rs142968561	306	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA4088331 rs111680846	308	F>L		No	ClinGen ESP ExAC gnomAD
CA366367512 rs1249707137	309	A>G		No	ClinGen Ensembl
COSM1075728 COSM1075730 CA151270536 rs995466623	309	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs866741994 CA151270542	312	R>S		No	ClinGen gnomAD
CA4088334 rs751947272	312	R>T		No	ClinGen ExAC gnomAD
CA4088335 rs200468674	313	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366367549 rs1294199905	315	A>S		No	ClinGen TOPMed gnomAD
rs1369818678 CA366367580	319	G>D		No	ClinGen gnomAD
rs1562505196 CA366367582	320	T>A		No	ClinGen Ensembl
rs200010248 CA4088336	325	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1257832010 CA366367622	326	C>G		No	ClinGen TOPMed
CA4088337 rs746378292	326	C>Y		No	ClinGen ExAC gnomAD
CA366367639 rs1220879435	328	A>V		No	ClinGen gnomAD
rs1189768884 CA366367656	331	G>E		No	ClinGen TOPMed
CA4088338 rs113716362	333	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs113716362 CA366367669	333	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4088340 rs202198092	334	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779997566 CA4088339	334	I>V		No	ClinGen ExAC gnomAD
CA4088341 VAR_040687 rs35730939	335	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4088342 rs35730939	335	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4088343 rs561816464	338	S>L		No	ClinGen 1000Genomes ExAC gnomAD
rs770635939 CA4088344	339	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1168290503 CA366367704	339	T>I		No	ClinGen TOPMed gnomAD
rs1165740521 CA366367709	340	H>R		No	ClinGen gnomAD
rs1465363054 CA366367706	340	H>Y		No	ClinGen gnomAD
rs1351742251 CA366367717	341	H>R		No	ClinGen gnomAD
CA366367725 rs1434362525	342	E>G		No	ClinGen gnomAD
rs1341701864 CA366367732	343	H>P		No	ClinGen TOPMed gnomAD
rs527432855 CA4088348	345	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763787914 CA4088350	346	R>C		No	ClinGen ExAC TOPMed gnomAD
rs541008265 CA4088351	346	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA151270574 rs541008265	346	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366367758 rs1291550387	347	Q>R		No	ClinGen gnomAD
rs564094810 CA4088352	348	R>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1260746501 CA366367770	349	V>F		No	ClinGen TOPMed gnomAD
rs781400872 CA4088353	351	F>L		No	ClinGen ExAC gnomAD
CA366367795 rs1262283173	353	Q>*		No	ClinGen gnomAD
CA4088354 rs750870719	355	K>Q		No	ClinGen ExAC gnomAD
CA4088357 rs376034037	356	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4088356 rs376034037	356	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4088355 rs756547877	356	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1403764406 CA366367827	358	M>L		No	ClinGen gnomAD
CA366367830 rs1164186439	358	M>T		No	ClinGen gnomAD
rs779038867 CA4088359	363	Y>C		No	ClinGen ExAC gnomAD
rs1340350621 CA366367871	364	I>T		No	ClinGen TOPMed gnomAD
CA366367879 rs1449169510	365	E>V		No	ClinGen gnomAD
rs867799685 CA151270594	366	A>E		No	ClinGen Ensembl
rs1286278987 CA366367882	366	A>T		No	ClinGen gnomAD
CA366367887 rs1376537540	367	L>V		No	ClinGen gnomAD
rs748381117 CA4088360	373	A>T		No	ClinGen ExAC TOPMed gnomAD
CA366367943 rs1448621808	375	Q>R		No	ClinGen TOPMed
rs772394593 CA4088361	376	K>R		No	ClinGen ExAC gnomAD
rs1211886533 CA366367980	380	K>E		No	ClinGen TOPMed
CA366368014 rs1471934497	385	D>N		No	ClinGen gnomAD
CA366368033 rs1381058515	386	F>L		No	ClinGen gnomAD
CA4088367 rs763713833	391	Q>K		No	ClinGen ExAC gnomAD
CA366368138 rs1273896190	392	A>T		No	ClinGen TOPMed
CA4088368 rs111941258	396	W>*		No	ClinGen ESP ExAC gnomAD
rs1415495224 CA366368259	399	I>V		No	ClinGen gnomAD
CA366368308 rs1357782243	402	D>G		No	ClinGen gnomAD
rs756524764 CA4088372	412	T>S		No	ClinGen ExAC gnomAD
CA4088373 rs143540599	414	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1345641650 CA366368668 COSM1075739 COSM1075737	417	K>N	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA4088374 rs754349480	417	K>R		No	ClinGen ExAC gnomAD
rs932013222 CA151270664	418	N>S		No	ClinGen TOPMed
CA366368684 rs1431986147	419	L>V		No	ClinGen TOPMed
CA4088376 rs778949243	420	S>T		No	ClinGen ExAC gnomAD
rs748327150 CA4088377	422	I>V		No	ClinGen ExAC
CA4088380 rs758513620	430	P>R		No	ClinGen ExAC gnomAD
CA366368983 rs778101871	433	R>L		No	ClinGen ExAC TOPMed gnomAD
CA4088381 rs778101871	433	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs769740641 CA4088383	435	S>Y		No	ClinGen ExAC gnomAD
CA151270695 rs146790152	437	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4088385 rs199793257	437	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4088386 rs146790152	437	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773972250 CA4088387	438	N>K		No	ClinGen ExAC gnomAD
rs1463688635 CA366369069	439	E>Q		No	ClinGen TOPMed
rs144846655 CA4088388	440	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366369097 rs144846655	440	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366369151 rs1583166549	442	Y>D		No	ClinGen Ensembl
CA151270721 rs57592776	443	E>D		No	ClinGen Ensembl
CA4088390 rs772950729	445	D>G		No	ClinGen ExAC gnomAD
rs990588951 CA151270723	445	D>N		No	ClinGen Ensembl
rs760883264 CA4088391	448	E>G		No	ClinGen ExAC gnomAD
CA366369284 rs1402053877	448	E>Q		No	ClinGen gnomAD
CA4088392 rs766740457	449	G>E		No	ClinGen ExAC TOPMed
rs754257637 CA4088393	455	E>G		No	ClinGen ExAC gnomAD
rs755472119 CA366369517	456	S>R		No	ClinGen ExAC gnomAD
CA4088395 rs765773794	457	S>G		No	ClinGen ExAC TOPMed gnomAD
CA4088396 rs549353618	458	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4088398 rs777816012	459	D>A		No	ClinGen ExAC TOPMed gnomAD
rs747256951 CA4088399	459	D>E		No	ClinGen ExAC gnomAD
CA366369554 rs777816012	459	D>G		No	ClinGen ExAC TOPMed gnomAD
CA366369556 rs777816012	459	D>V		No	ClinGen ExAC TOPMed gnomAD
CA366369586 rs1215672206	461	S>N		No	ClinGen TOPMed
rs905121527 CA151270743	463	E>K		No	ClinGen TOPMed gnomAD
CA4088400 rs757613390	464	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1034692371 CA151270748	465	Q>E		No	ClinGen TOPMed
CA366369649 rs1341986534	465	Q>H		No	ClinGen TOPMed
CA4088401 rs779994431	466	I>T		No	ClinGen ExAC gnomAD
rs768696884 CA4088403	469	P>S		No	ClinGen ExAC TOPMed gnomAD
CA151270756 rs959038902	470	R>G		No	ClinGen gnomAD
rs375418351 CA151270759	470	R>K		No	ClinGen ESP gnomAD
rs774368494 CA4088404	471	V>I		No	ClinGen ExAC TOPMed gnomAD
CA4088405 rs747572106	472	P>L		No	ClinGen ExAC TOPMed gnomAD
CA366369741 rs747572106	472	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1583166748 CA366369750	473	E>A		No	ClinGen Ensembl
rs1387976404 CA366369756	474	I>V		No	ClinGen gnomAD
CA4088408 rs760306084	476	Q>E		No	ClinGen ExAC gnomAD
rs766085348 CA366369780	477	P>L		No	ClinGen ExAC TOPMed gnomAD
rs766085348 CA4088409	477	P>R		No	ClinGen ExAC TOPMed gnomAD
rs776949379 CA4088410	478	I>T		No	ClinGen ExAC gnomAD
rs759938401 CA4088411	479	D>H		No	ClinGen ExAC gnomAD
CA151270786 rs1022047926	481	S>C		No	ClinGen Ensembl
CA366369808 rs1443985235	481	S>R		No	ClinGen TOPMed
rs765680030 CA4088412	482	F>V		No	ClinGen ExAC gnomAD
COSM78048 COSM1442043 rs1373404574 CA366369818	483	D>Y	ovary large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA366369825 rs1329208198	484	I>V		No	ClinGen TOPMed
rs1211740078 CA366369844	486	S>L		No	ClinGen gnomAD
rs140581305 CA4088415	487	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs967543892 CA151270798	487	R>W		No	ClinGen TOPMed gnomAD
rs1454631945 CA366369852	488	D>G		No	ClinGen TOPMed
rs1192071681 CA366369865	490	I>V		No	ClinGen gnomAD
rs757525354 CA4088417	494	L>F		No	ClinGen ExAC
rs781618112 CA4088418	497	L>P		No	ClinGen ExAC gnomAD
CA151270805 rs369809586	498	E>K		No	ClinGen ESP TOPMed gnomAD
CA4088420 rs754851888	499	S>Y		No	ClinGen ExAC
rs778650948 CA366369933	500	E>A		No	ClinGen ExAC gnomAD
CA4088421 rs778650948	500	E>G		No	ClinGen ExAC gnomAD
CA366369932 rs1299939662	500	E>K		No	ClinGen gnomAD
CA366369940 rs1562506059	501	D>A		No	ClinGen Ensembl
CA366369957 rs1232512350	503	S>F		No	ClinGen TOPMed
CA4088422 rs748131373	503	S>P		No	ClinGen ExAC gnomAD
CA366369955 rs1232512350	503	S>Y		No	ClinGen TOPMed
rs1583166949 CA366369960	504	L>F		No	ClinGen Ensembl
CA366369962 rs1313104957	504	L>P		No	ClinGen gnomAD
rs771958766 CA4088423	505	G>A		No	ClinGen ExAC TOPMed gnomAD
CA366369984 rs1372406435	508	A>T		No	ClinGen gnomAD
rs923840112 CA151270823	508	A>V		No	ClinGen Ensembl
CA4088424 rs371598965	509	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA366369999 rs1224271582	510	D>A		No	ClinGen TOPMed gnomAD
rs746557995 CA4088425	511	W>R		No	ClinGen ExAC gnomAD
CA366370023 rs1218043476	513	T>I		No	ClinGen TOPMed gnomAD
CA4088427 rs201794382	514	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA366370039 rs1371904159	516	G>D		No	ClinGen TOPMed
CA4088428 rs759852641	516	G>S		No	ClinGen ExAC
rs986694813 CA151270838	518	S>C		No	ClinGen gnomAD
CA366370051 rs986694813	518	S>G		No	ClinGen gnomAD
rs1279646127 CA366370058	519	R>*		No	ClinGen TOPMed
CA366370068 rs1583167059	520	H>R		No	ClinGen Ensembl
rs775801595 CA4088430	521	C>F		No	ClinGen ExAC TOPMed gnomAD
rs775801595 CA366370075	521	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA366370081 rs1184944204	522	L>Q		No	ClinGen gnomAD
rs911861537 CA151270844	524	S>F		No	ClinGen TOPMed gnomAD
CA366370100 rs1378433444	525	I>M		No	ClinGen gnomAD
rs1583167094 CA366370098	525	I>T		No	ClinGen Ensembl
CA4088431 rs763514580	525	I>V		No	ClinGen ExAC gnomAD
rs1312017826 CA366370109	527	R>G		No	ClinGen TOPMed
rs764549720 CA4088432	537	M>L		No	ClinGen ExAC gnomAD
CA366370310 rs1398063107	542	L>F		No	ClinGen gnomAD
rs762006412 CA4088434	546	L>F		No	ClinGen ExAC gnomAD
rs767811844 CA4088435	547	H>R		No	ClinGen ExAC TOPMed gnomAD
CA366370447 rs1311490749	551	D>G		No	ClinGen gnomAD
CA366370442 rs1400041929	551	D>Y		No	ClinGen TOPMed
CA366370469 rs1238876550	552	G>V		No	ClinGen gnomAD
rs1484430005 CA366370517	556	R>G		No	ClinGen TOPMed gnomAD
rs145715446 CA4088438	558	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1471256881 CA366370558	559	I>V		No	ClinGen TOPMed
CA151270868 rs930795499	560	A>T		No	ClinGen TOPMed gnomAD
rs1273304426 CA366370631	564	N>I		No	ClinGen gnomAD
CA4088440 rs752499459	565	D>N		No	ClinGen ExAC gnomAD
CA4088441 rs758321565	566	R>C		No	ClinGen ExAC TOPMed gnomAD
rs758321565 CA4088442	566	R>G		No	ClinGen ExAC TOPMed gnomAD
rs55765351 VAR_040688 CA4088443	566	R>H		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA151270879 rs1047916683	567	P>L		No	ClinGen Ensembl
rs755769802 CA366372259	570	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1267093977 CA366372284	574	P>S		No	ClinGen TOPMed
CA4088467 rs749625249	575	D>H		No	ClinGen ExAC gnomAD
COSM1442058 COSM1442059 CA366372297 rs1344968427	576	P>S	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs748655694 CA4088470	577	M>I		No	ClinGen ExAC TOPMed gnomAD
CA4088468 rs768910934	577	M>L		No	ClinGen ExAC TOPMed gnomAD
CA4088469 rs146719316	577	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1213340672 CA366372309	578	W>R		No	ClinGen TOPMed
CA366372356 rs34018542	584	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_040689 CA4088471 rs34018542	584	Q>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1244633926 CA366372354	584	Q>R		No	ClinGen gnomAD
CA366372370 rs1355777109	587	R>G		No	ClinGen gnomAD
rs773392017 CA4088472	588	T>A		No	ClinGen ExAC gnomAD
rs773392017 CA4088473	588	T>S		No	ClinGen ExAC gnomAD
rs766571378 CA4088475	590	P>S		No	ClinGen ExAC TOPMed gnomAD
rs773602488 CA4088477	593	E>K		No	ClinGen ExAC TOPMed gnomAD
rs773602488 CA4088476	593	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs763889174 CA4088478	594	E>G		No	ClinGen ExAC gnomAD
rs971397376 CA151280051	594	E>K		No	ClinGen Ensembl
rs748877008 CA151280066	595	K>N		No	ClinGen TOPMed
rs751412192 CA4088479	596	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1157324298 CA366372432	597	S>N		No	ClinGen gnomAD
rs757157010 CA4088480	597	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1168125138 CA366372442	598	A>D		No	ClinGen TOPMed
rs770742126 CA151280096	599	V>L		No	ClinGen ExAC gnomAD
CA4088481 rs770742126	599	V>L		No	ClinGen ExAC gnomAD
CA4088483 rs755611146	600	S>T		No	ClinGen ExAC gnomAD
rs754719691 CA4088486	602	E>K		No	ClinGen ExAC TOPMed gnomAD
CA366372474 rs1397421643	603	E>G		No	ClinGen gnomAD
rs779417626 COSM1187222 COSM1187221 CA4088487	605	K>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1427240818 CA366372493	606	A>G		No	ClinGen TOPMed
rs148072527 CA4088488	606	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA366372497 rs1439999633	607	M>L		No	ClinGen gnomAD
CA151280139 rs964798769	607	M>T		No	ClinGen TOPMed gnomAD
rs772681611 CA4088489	611	S>L		No	ClinGen ExAC TOPMed gnomAD
CA366372524 rs1345585035	611	S>T		No	ClinGen gnomAD
CA4088491 rs747066769	613	E>K		No	ClinGen ExAC TOPMed gnomAD
rs923069213 CA151280178	614	P>L		No	ClinGen TOPMed
rs141787443 CA4088493	618	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs141787443 CA4088492	618	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs376658956 CA4088494	621	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1583193668 CA366372604	624	L>Q		No	ClinGen Ensembl
CA366372603 rs774112460	624	L>V		No	ClinGen ExAC TOPMed gnomAD
CA4088497 rs371257622	625	N>S		No	ClinGen ESP ExAC gnomAD
rs767402710 CA4088498	626	V>I		No	ClinGen ExAC gnomAD
rs760178161 CA4088500	627	I>T		No	ClinGen ExAC gnomAD
CA4088499 rs750332960	627	I>V		No	ClinGen ExAC gnomAD
CA151280197 rs901055574	628	H>R		No	ClinGen Ensembl
CA366372674 rs375143294	635	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs941671943 CA151280212	637	Q>H		No	ClinGen TOPMed
CA366372698 rs1327540578	638	R>K		No	ClinGen gnomAD
rs1438435734 CA366372740	644	S>F		No	ClinGen gnomAD
CA366372811 rs753262167	653	R>K		No	ClinGen ExAC TOPMed gnomAD
CA4088521 rs753262167	653	R>T		No	ClinGen ExAC TOPMed gnomAD
CA4088522 rs759136682	655	C>W		No	ClinGen ExAC gnomAD
CA366372831 rs1260162359	656	K>E		No	ClinGen TOPMed gnomAD
CA366372871 rs1385451306	662	G>S		No	ClinGen TOPMed
CA4088525 rs758777678	665	M>I		No	ClinGen ExAC gnomAD
rs1368587455 CA366372903	667	Q>K		No	ClinGen gnomAD
rs1554281745 CA366372916	668	Y>F		No	ClinGen Ensembl
CA4088526 rs777986315	669	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs752026025 CA366372942	672	M>L		No	ClinGen ExAC gnomAD
CA4088527 rs752026025	672	M>V		No	ClinGen ExAC gnomAD
rs757672958 CA4088528	674	Q>R		No	ClinGen ExAC gnomAD
CA4088529 rs753077794	675	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1397448028 CA366373012	682	K>E		No	ClinGen TOPMed
rs1341256669 CA366373025	684	D>N		No	ClinGen TOPMed gnomAD
rs1042957380 CA151285606	687	I>L		No	ClinGen Ensembl
rs370246317 CA4088533	687	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs370246317 CA4088532	687	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs764381750 CA4088535	689	A>T		No	ClinGen ExAC gnomAD
rs746873905 CA4088536	689	A>V		No	ClinGen ExAC gnomAD
rs1262929863 CA366373093	693	D>G		No	ClinGen gnomAD
rs1204227696 CA366373105	695	H>R		No	ClinGen gnomAD
CA4088538 rs753465131	697	M>I		No	ClinGen ExAC gnomAD
rs1562526316 CA366373421	706	R>G		No	ClinGen Ensembl
CA4088562 rs770761128	708	W>G		No	ClinGen ExAC gnomAD
rs145722588 CA366373469	712	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA366373515 rs1340944544	718	A>V		No	ClinGen TOPMed
rs775106861 CA4088566	720	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA366373526 rs1174522876	720	H>R		No	ClinGen gnomAD
CA4088567 rs762598801	721	S>N		No	ClinGen ExAC gnomAD
rs1299915865 CA366373555	724	N>S		No	ClinGen gnomAD
CA366373575 rs1391317261	727	E>G		No	ClinGen gnomAD
rs1232092078 CA366373587	729	E>K		No	ClinGen TOPMed
rs1347751394 CA366373641	734	K>R		No	ClinGen gnomAD
CA4088569 rs368281455	738	H>D		No	ClinGen ESP ExAC gnomAD
rs1444352865 CA366373710	739	Y>C		No	ClinGen TOPMed
COSM1545392 rs762026224 COSM1545393 CA4088570	740	I>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA366373783 rs1329541105	745	A>S		No	ClinGen TOPMed
CA366373789 rs1318109754	745	A>V		No	ClinGen gnomAD
rs1206020508 CA366373798	746	Q>R		No	ClinGen gnomAD
CA366373824 rs1480309189	748	G>A		No	ClinGen gnomAD
rs1210350266 CA366373835	749	K>R		No	ClinGen gnomAD
CA4088597 rs374653480	755	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA366374147 rs1164238075	756	G>E		No	ClinGen gnomAD
CA4088598 rs758614902	756	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1387642389 CA366374154	757	M>V		No	ClinGen gnomAD
rs142735217 CA4088602	764	S>I		No	ClinGen ESP ExAC gnomAD
rs890422500 CA151294544	764	S>R		No	ClinGen Ensembl
rs749235544 CA4088603	765	F>C		No	ClinGen ExAC gnomAD
CA366374287 rs139355462	767	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA4088606 rs139355462	767	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs147388167 CA4088604	767	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs147388167 CA4088605	767	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs772886802 CA4088608	769	G>S		No	ClinGen ExAC gnomAD
rs771295941 CA4088610	771	Q>H		No	ClinGen ExAC gnomAD
rs760960266 CA4088609	771	Q>P		No	ClinGen ExAC gnomAD
rs1181332835 CA366374329	772	E>G		No	ClinGen Ensembl
rs777035107 CA4088611	772	E>Q		No	ClinGen ExAC gnomAD
CA366374338 rs1485631132	773	S>R		No	ClinGen gnomAD
CA151294659 rs904743911	773	S>T		No	ClinGen TOPMed
CA4088612 rs760079991	775	A>V		No	ClinGen ExAC gnomAD
CA151294671 rs1017699440	778	W>R		No	ClinGen Ensembl
rs1443385703 CA366374383	780	S>G		No	ClinGen TOPMed gnomAD
rs1443385703 CA366374382	780	S>R		No	ClinGen TOPMed gnomAD
CA4088617 rs149627174	785	S>I		No	ClinGen ESP ExAC gnomAD
rs373337026 CA4088621	788	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA366374442 rs1379911163	788	D>G		No	ClinGen gnomAD
rs963818485 CA151294716	788	D>N		No	ClinGen TOPMed gnomAD
rs778740945 CA4088622	789	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1415453782 CA366374453	790	I>V		No	ClinGen Ensembl
CA4088639 rs765159136	798	S>C		No	ClinGen ExAC gnomAD
rs777258110 CA4088642	821	M>T		No	ClinGen ExAC gnomAD
rs563423040 CA4088656	830	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA4088658 rs764923342	832	F>L		No	ClinGen ExAC gnomAD
CA4088659 rs762842529	836	A>D		No	ClinGen ExAC
rs764067018 CA4088661	837	P>A		No	ClinGen ExAC gnomAD
rs1212839832 CA366375205	837	P>L		No	ClinGen gnomAD
CA366375202 rs764067018	837	P>T		No	ClinGen ExAC gnomAD
CA366375208 rs1181896974	838	V>F		No	ClinGen TOPMed
CA366375224 rs1274581924	840	D>V		No	ClinGen gnomAD
rs751020590 CA4088662	841	L>V		No	ClinGen ExAC gnomAD
CA366375241 rs1267203551	843	D>G		No	ClinGen gnomAD
CA366375247 rs1460875749	844	V>I		No	ClinGen TOPMed
CA4088663 rs756791193	846	K>R		No	ClinGen ExAC gnomAD
rs780830016 CA4088664	849	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs774638490 CA151296207	850	Y>F		No	ClinGen TOPMed
rs750031237 CA4088665	852	K>M		No	ClinGen ExAC gnomAD
rs750031237 CA4088666	852	K>R		No	ClinGen ExAC gnomAD
CA4088686 rs370807542	856	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4088685 rs143918593	856	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs975617675 CA151296849	861	L>F		No	ClinGen Ensembl
rs565598482 CA151296851	863	M>V		No	ClinGen 1000Genomes
CA366375440 rs1455838023	871	E>G		No	ClinGen gnomAD
rs779507764 CA4088688	872	E>V		No	ClinGen ExAC gnomAD
rs1251029508 CA366375455	873	K>R		No	ClinGen gnomAD
rs1383583627 CA366375467	875	I>V		No	ClinGen gnomAD
rs1455087917 CA366375478	876	I>T		No	ClinGen gnomAD
rs1313590356 CA366375519	879	L>F		No	ClinGen gnomAD
CA366375534 rs1340344688	881	N>D		No	ClinGen gnomAD
rs777681216 CA4088691	883	A>G		No	ClinGen ExAC TOPMed gnomAD
rs375331278 CA4088692	884	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs375331278 CA4088693	884	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA151296926 rs551171796	885	G>E		No	ClinGen 1000Genomes
rs1416520556 CA366375601	886	K>T		No	ClinGen gnomAD
CA4088694 rs776867715	887	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1379630886 CA366375628	888	C>R		No	ClinGen TOPMed
rs762668718 CA4088695	889	S>*		No	ClinGen ExAC TOPMed gnomAD
CA366375650 rs762668718	889	S>L		No	ClinGen ExAC TOPMed gnomAD
CA366375655 rs1419532658	890	K>E		No	ClinGen gnomAD
rs1583215608 CA917905760	890	K>S*		No	ClinGen Ensembl
rs1166485785 CA366375687	892	S>T		No	ClinGen TOPMed gnomAD
rs150922006 CA4088696	893	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774200089 CA4088697	894	D>N		No	ClinGen ExAC gnomAD
rs779114335 CA4088699	895	V>I		No	ClinGen ExAC TOPMed gnomAD
CA366375729 rs779114335 COSM1545391 COSM1545390	895	V>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1471012180 CA571906968	896	L>H*		No	ClinGen gnomAD
CA4088701 rs139546038	897	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs911047218 CA151296989	898	D>A		No	ClinGen TOPMed
CA366375765 rs1392479552	898	D>N		No	ClinGen gnomAD
CA366375773 rs911047218	898	D>V		No	ClinGen TOPMed
rs530222532 CA4088702	900	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366375799 rs530222532	900	Y>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366375848 rs1562530747	904	T>I		No	ClinGen Ensembl
CA4088706 rs370472866	905	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs35533223 VAR_040690 CA4088707	906	H>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4088709 COSM595112 COSM595113 rs747018394	907	G>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs747018394 CA366375863	907	G>S		No	ClinGen ExAC gnomAD
rs140291284 CA151297050	909	R>G		No	ClinGen ESP gnomAD
CA151297051 rs1048019976	909	R>Q		No	ClinGen TOPMed gnomAD
rs1472472195 CA366375880	910	A>P		No	ClinGen TOPMed
CA4088710 rs757360452	911	R>C		No	ClinGen ExAC TOPMed gnomAD
rs757360452 CA4088711	911	R>G		No	ClinGen ExAC TOPMed gnomAD
CA4088712 rs202078557	911	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs774110509 CA4088714	914	E>V		No	ClinGen ExAC gnomAD
CA366375921 rs1477066452	916	S>T		No	ClinGen TOPMed
CA366375929 rs1262976481	917	W>S		No	ClinGen TOPMed
CA4088716 rs771866758	918	G>S		No	ClinGen ExAC gnomAD
CA366375938 rs1409625852	918	G>V		No	ClinGen gnomAD
rs765978348 CA4088719	920	W>L		No	ClinGen ExAC gnomAD
CA4088720 rs776343858	921	E>K		No	ClinGen ExAC gnomAD
rs759229564 CA4088721	922	A>P		No	ClinGen ExAC gnomAD
CA4088722 rs368927573	923	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA366375977 rs370713644	923	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs758821045 CA4088724	924	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4088725 rs758821045	924	P>R		No	ClinGen ExAC TOPMed gnomAD
rs757819165 CA4088727	925	V>A		No	ClinGen ExAC gnomAD
CA4088726 rs752119986	925	V>I		No	ClinGen ExAC gnomAD
CA4088731 rs780356045	928	V>A		No	ClinGen ExAC TOPMed gnomAD
CA4088730 rs368351889	928	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1307107850 CA366376101	934	V>A		No	ClinGen TOPMed gnomAD
CA366376098 rs1562530919	934	V>F		No	ClinGen Ensembl
rs771918006 CA4088733	936	T>A		No	ClinGen ExAC gnomAD
rs189782740 CA4088734	938	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1367824310 CA366376161	939	S>G		No	ClinGen gnomAD
rs755226389 CA4088752	942	V>A		No	ClinGen ExAC gnomAD
CA366376359 rs1204326539	945	L>I		No	ClinGen gnomAD
rs746846804 CA4088754	947	L>I		No	ClinGen ExAC gnomAD
CA366376384 rs1486652210	949	V>G		No	ClinGen TOPMed
CA366376392 rs1562531931	950	M>I		No	ClinGen Ensembl
CA4088756 rs200924812	951	Q>R		No	ClinGen ESP ExAC gnomAD
rs745308793 CA4088757	952	S>P		No	ClinGen ExAC gnomAD
rs1283784437 CA366376407	953	A>T		No	ClinGen TOPMed
rs1420558020 CA366376412	953	A>V		No	ClinGen TOPMed gnomAD
rs1387404378 CA366376415	954	H>Y		No	ClinGen gnomAD
CA366376430 rs1338061004	956	T>I		No	ClinGen gnomAD
CA4088759 rs774920333	958	Q>R		No	ClinGen ExAC gnomAD
rs975573123 CA151298368	959	R>G		No	ClinGen TOPMed gnomAD
rs866546531 CA151298375	963	Q>*		No	ClinGen Ensembl
rs922779485 CA151298377	963	Q>R		No	ClinGen TOPMed
rs1226302691 CA366376481	964	Q>K		No	ClinGen gnomAD
CA4088762 rs774729715	964	Q>L		No	ClinGen ExAC gnomAD
rs950204696 CA151298400	965	S>A		No	ClinGen Ensembl
CA4088763 rs762197637	966	I>L		No	ClinGen ExAC TOPMed gnomAD
CA4088764 rs200493599	966	I>T		No	ClinGen ExAC TOPMed gnomAD
CA151298417 rs762197637	966	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4088765 COSM1442062 rs750943853 COSM1442063	967	E>G	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs761232113 CA4088766	969	L>F		No	ClinGen ExAC gnomAD
rs201427881 CA4088767	970	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1210008431 CA366376516	970	M>V		No	ClinGen TOPMed gnomAD
rs755200964 CA4088769	974	Q>R		No	ClinGen ExAC gnomAD
CA366376555 rs1480523173	975	E>D		No	ClinGen gnomAD
CA4088770 rs150337409	975	E>G		No	ClinGen ESP ExAC gnomAD
rs1410791221 CA366376550	975	E>Q		No	ClinGen gnomAD
rs200093237 CA4088772	977	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4088773 rs781215930	979	S>R		No	ClinGen ExAC gnomAD
CA4088774 rs202168620	981	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4088776 rs779585569	983	I>V		No	ClinGen ExAC gnomAD
rs369631924 CA4088778	984	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4088779 rs773998069	985	K>R		No	ClinGen ExAC gnomAD
rs1038780439 CA151298528	988	Q>R		No	ClinGen TOPMed gnomAD
rs946593601 CA151299803	992	N>D		No	ClinGen TOPMed
rs1193368927 CA366377135	992	N>S		No	ClinGen TOPMed gnomAD
CA4088798 rs747797898	994	A>T		No	ClinGen ExAC gnomAD
rs1583220607 CA366377151	994	A>V		No	ClinGen Ensembl
rs1193357744 CA366377157	995	L>F		No	ClinGen gnomAD
CA151299804 rs369156671	996	E>K		No	ClinGen Ensembl
CA151299807 rs760332588	998	C>R		No	ClinGen Ensembl
rs201739422 CA4088800	999	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366377202 rs1187819652	999	N>Y		No	ClinGen gnomAD
CA4088801 rs747351595	1001	I>M		No	ClinGen ExAC gnomAD
CA366377264 rs55704622	1003	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000973569 CA4088803 rs55704622	1003	N>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4088802 rs771425535	1003	N>S		No	ClinGen ExAC gnomAD
CA4088805 rs765216056	1004	A>D		No	ClinGen ExAC TOPMed gnomAD
CA366377267 rs1404985047	1004	A>T		No	ClinGen TOPMed gnomAD
rs775777877 CA4088806	1005	I>T		No	ClinGen ExAC gnomAD
rs1390885197 CA366377280	1005	I>V		No	ClinGen gnomAD
rs146198891 CA4088808	1007	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs146198891 CA4088807	1007	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs138632491 CA4088809	1007	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4088811 rs766283480 COSM1672959 COSM1672960	1008	V>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA366377333 rs1562533539	1009	D>G		No	ClinGen Ensembl
CA4088812 rs753703196	1010	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA366377375 rs1205333991	1011	M>I		No	ClinGen gnomAD
rs557860822 CA4088813	1011	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778360302 CA4088814	1013	T>S		No	ClinGen ExAC
rs920293041 CA151299961	1014	S>L		No	ClinGen TOPMed
CA151299976 rs947777434	1017	D>E		No	ClinGen TOPMed
CA366377523 rs1269520365	1022	E>*		No	ClinGen TOPMed gnomAD
rs1463188588 CA366377542	1023	S>Y		No	ClinGen TOPMed gnomAD
CA366377592 rs1425417492	1027	T>N		No	ClinGen gnomAD
rs1239237321 CA366377615	1029	Q>*		No	ClinGen TOPMed
CA366377666 rs1472613756	1032	Y>C		No	ClinGen gnomAD
CA366377677 rs1414399977	1033	R>*		No	ClinGen TOPMed gnomAD
rs963514067 CA151300019	1035	A>T		No	ClinGen Ensembl
rs199599458 CA366377712	1036	M>L		No	ClinGen ExAC TOPMed gnomAD
rs199599458 CA4088817	1036	M>V		No	ClinGen ExAC TOPMed gnomAD
CA366377741 rs1562533643	1037	I>M		No	ClinGen Ensembl
rs146957291 CA4088818	1037	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771216572 CA4088819	1040	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs771216572 CA366377777	1040	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA4088821 rs746358102	1042	F>C		No	ClinGen ExAC TOPMed gnomAD
rs1240159414 CA366377833	1044	F>L		No	ClinGen gnomAD
rs186322335 CA4088840	1047	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376945527 CA4088839	1047	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770375636 CA4088841	1050	V>A		No	ClinGen ExAC TOPMed gnomAD
CA4088842 rs780710529	1054	M>V		No	ClinGen ExAC gnomAD
rs1196777262 CA366377949	1057	E>A		No	ClinGen gnomAD
rs749322689 CA4088843	1060	Q>H		No	ClinGen ExAC gnomAD
CA4088844 rs768841963	1061	K>N		No	ClinGen ExAC TOPMed gnomAD
CA151300627 rs1004215623	1061	K>R		No	ClinGen TOPMed gnomAD
rs200509406 CA4088846	1062	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4088847 rs772383532	1063	G>*		No	ClinGen ExAC gnomAD
CA4088848 rs776235747	1064	D>G		No	ClinGen ExAC gnomAD
rs765096642 CA4088851	1065	K>E		No	ClinGen ExAC TOPMed gnomAD
COSM1075754 CA4088854 rs199868127 COSM1075752	1071	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA4088855 rs751122481	1075	N>S		No	ClinGen ExAC TOPMed gnomAD
rs751122481 CA4088856	1075	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1222890783 CA366378101	1079	T>A		No	ClinGen gnomAD
CA4088858 rs374559334	1080	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA366378116 rs1209109214	1081	C>Y		No	ClinGen TOPMed
rs1489550266 CA366378143	1085	R>G		No	ClinGen gnomAD
CA151301396 rs112573451	1091	W>*		No	ClinGen Ensembl
CA366378207 rs1180796133	1092	A>V		No	ClinGen TOPMed
CA151301397 rs952055719	1097	D>Y		No	ClinGen gnomAD
CA366378272 rs1266297922	1102	I>V		No	ClinGen gnomAD
CA151301403 rs374241121	1105	A>D		No	ClinGen ESP
COSM207470 CA366378292 COSM207469 rs1316892769	1105	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA4088886 rs771185174	1106	F>C		No	ClinGen ExAC gnomAD
rs1181582249 CA366378330	1111	P>T		No	ClinGen gnomAD
CA366378390 rs1192359871	1117	S>N		No	ClinGen TOPMed gnomAD
rs1279626234 CA366378394	1117	S>R		No	ClinGen TOPMed
CA366378404 rs1443996527	1119	Q>*		No	ClinGen TOPMed
CA366378411 rs984809757	1120	A>S		No	ClinGen TOPMed
rs984809757 CA151301925	1120	A>T		No	ClinGen TOPMed
rs1453149455 CA366378444	1124	E>A		No	ClinGen TOPMed
rs781424875 CA4088909	1128	H>R		No	ClinGen ExAC
rs376872852 CA151301984	1130	I>L		No	ClinGen ESP gnomAD
CA4088910 rs528641335	1134	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA366378529 rs1335335989	1137	V>L		No	ClinGen gnomAD
rs768485083 CA4088911	1138	T>A		No	ClinGen ExAC gnomAD
rs1408460231 CA366378538	1138	T>I		No	ClinGen TOPMed gnomAD
CA4088912 rs778639024	1140	L>S		No	ClinGen ExAC gnomAD
CA366378557 rs1583224243	1141	Y>S		No	ClinGen Ensembl
CA366378584 rs1366249839	1143	A>G		No	ClinGen TOPMed
rs1366187881 CA366378570	1143	A>T		No	ClinGen gnomAD
rs1186270796 CA366378598	1145	H>R		No	ClinGen TOPMed
CA366378603 rs1287253432	1146	R>Q		No	ClinGen gnomAD
CA366378626 rs1467656342	1149	P>R		No	ClinGen TOPMed gnomAD
rs747914971 CA4088930 COSM271378 COSM271377	1150	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1249821110 CA366378630	1150	R>H		No	ClinGen TOPMed gnomAD
CA4088931 rs546479441	1151	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777853838 CA4088932	1152	M>V		No	ClinGen ExAC gnomAD
CA4088933 rs746458175	1154	V>G		No	ClinGen ExAC gnomAD
CA366378661 rs1473272264	1155	P>S		No	ClinGen gnomAD
CA4088934 rs138904282	1156	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs776351500 COSM1075755 CA4088935 COSM1075757	1156	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA366378680 rs1225431708	1158	H>R		No	ClinGen TOPMed
rs1461002405 CA366378686	1159	S>G		No	ClinGen gnomAD
rs1354200515 CA366378687	1159	S>N		No	ClinGen TOPMed
rs1321228730 CA366378711	1162	P>L		No	ClinGen gnomAD
rs1030292173 CA151304576	1165	H>P		No	ClinGen TOPMed
rs769384949 CA4088937	1165	H>Y		No	ClinGen ExAC
CA4088938 rs775876759	1166	L>P		No	ClinGen ExAC gnomAD
CA4088939 rs763260623	1167	I>N		No	ClinGen ExAC gnomAD
CA366378750 rs1282081634	1169	P>S		No	ClinGen gnomAD
CA366378763 rs1333616180	1171	P>A		No	ClinGen gnomAD
rs1228541250 CA366378768	1171	P>L		No	ClinGen gnomAD
CA366378764 rs1333616180	1171	P>S		No	ClinGen gnomAD
CA151304588 rs370703324	1172	E>Q		No	ClinGen ESP
rs1269467541 CA366378786	1174	F>Y		No	ClinGen gnomAD
rs1212491070 CA366378794	1175	S>N		No	ClinGen TOPMed gnomAD
CA4088966 rs773299466	1176	T>I		No	ClinGen ExAC TOPMed gnomAD
CA366378815 rs773299466	1176	T>S		No	ClinGen ExAC TOPMed gnomAD
rs370587032 CA151305655	1177	R>Q		No	ClinGen ESP TOPMed gnomAD
CA4088967 rs760673383	1177	R>W		No	ClinGen ExAC TOPMed gnomAD
CA4088970 rs374033893	1182	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4088969 rs753989837	1182	D>N		No	ClinGen ExAC TOPMed gnomAD
rs367611856 CA4088972	1183	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4088973 COSM3697652 COSM3697651 rs367611856	1183	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
COSM1442067 rs1034822875 COSM1442066 CA151305703	1183	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs781023883 CA4088974	1184	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1277040076 CA366378858	1184	R>W		No	ClinGen gnomAD
rs745320026 CA4088975	1186	H>R		No	ClinGen ExAC TOPMed gnomAD
CA366378885 rs1437483449	1188	S>I		No	ClinGen TOPMed
CA4088977 rs1437483449	1188	S>N		No	ClinGen TOPMed
CA151305852 rs866141259	1190	A>P		No	ClinGen Ensembl
CA4088986 rs779674141	1191	A>T		No	ClinGen ExAC
CA4088989 rs748908185	1193	A>T		No	ClinGen ExAC
CA151305906 rs868054444	1196	A>V		No	ClinGen TOPMed
CA151305925 rs1057445855	1198	A>G		No	ClinGen TOPMed
rs1175584636 CA366378941	1198	A>S		No	ClinGen TOPMed
CA366378947 rs146403419	1199	A>G		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA4089002 rs146403419	1199	A>V		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs139506196 CA4089004	1200	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA366378954 rs1484920594 COSM207471	1201	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA4089005 rs371751053	1201	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1306031499 CA366378959	1202	A>S		No	ClinGen gnomAD
rs773603100 CA4089006	1202	A>V		No	ClinGen ExAC gnomAD
rs761298120 CA4089007	1203	S>G		No	ClinGen ExAC gnomAD
rs766361908 CA4089009	1203	S>N		No	ClinGen ExAC TOPMed gnomAD
CA4089008 rs766361908	1203	S>T		No	ClinGen ExAC TOPMed gnomAD
CA4089011 rs765581387	1204	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs769365322 CA4089010	1204	R>W		No	ClinGen ExAC TOPMed gnomAD
rs761707679 CA4089013	1205	P>R		No	ClinGen ExAC gnomAD
rs1231004714 CA366378985	1207	P>T		No	ClinGen gnomAD
rs750314778 CA4089015	1208	S>F		No	ClinGen ExAC gnomAD
CA4089016 rs144235437	1209	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs753366045 CA4089018	1210	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1436308180 CA366379072	1215	P>R		No	ClinGen TOPMed
CA366379088 rs1039255778	1216	K>N		No	ClinGen TOPMed gnomAD
rs144235046 CA4089021	1216	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs199725238 CA4089024	1219	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199725238 CA4089023	1219	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4089027 rs776806699	1222	H>R		No	ClinGen ExAC TOPMed gnomAD
CA4089028 rs759724988	1224	T>A		No	ClinGen ExAC gnomAD
rs770076825 CA4089029	1224	T>N		No	ClinGen ExAC TOPMed gnomAD
rs766243026 CA4089053	1227	S>Y		No	ClinGen ExAC gnomAD
rs776532087 CA4089054	1228	S>N		No	ClinGen ExAC TOPMed gnomAD
rs148732346 CA151309484	1229	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA366379813 rs1471575892	1229	V>G		No	ClinGen TOPMed
rs148732346 CA4089056	1229	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4089058 rs142357808	1230	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs142357808 CA4089057	1230	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA151309492 rs1012808940	1231	E>A		No	ClinGen TOPMed
rs1373365516 CA366379839	1233	D>G		No	ClinGen TOPMed gnomAD
CA151309501 rs971378102	1234	R>Q		No	ClinGen TOPMed gnomAD
rs1398392654 CA366379854	1236	A>T		No	ClinGen gnomAD
rs150975716 CA4089059	1236	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4089060 rs751808280	1237	S>F		No	ClinGen ExAC gnomAD
CA366379877 rs1323047690	1239	A>V		No	ClinGen TOPMed
CA151309540 rs757252165	1240	A>T		No	ClinGen Ensembl
rs781728287 CA366379903	1243	Q>H		No	ClinGen ExAC gnomAD
rs757655074 CA4089061	1243	Q>K		No	ClinGen ExAC gnomAD
CA366379901 rs1264152465	1243	Q>P		No	ClinGen TOPMed
CA4089063 rs746374807	1244	F>L		No	ClinGen ExAC gnomAD
CA4089065 rs371980229	1249	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs200731463 CA151309579	1253	P>L		No	ClinGen Ensembl
CA4089066 rs749414398	1254	T>M		No	ClinGen ExAC gnomAD
CA366379979 rs1439191830	1255	E>G		No	ClinGen gnomAD
rs1306911726 CA366379977	1255	E>K		No	ClinGen TOPMed
rs748373271 CA4089069	1257	R>Q		No	ClinGen ExAC gnomAD
CA366380001 rs1391503400	1258	D>E		No	ClinGen TOPMed
CA366379996 rs1488791357	1258	D>H		No	ClinGen gnomAD
CA366380033 rs1183843035	1261	A>G		No	ClinGen TOPMed
rs1583236445 CA366380066	1266	D>G		No	ClinGen Ensembl
rs867746986 CA151309980	1267	S>*		No	ClinGen gnomAD
rs756646988 CA4089083	1268	S>G		No	ClinGen ExAC TOPMed gnomAD
CA366380079 rs1251133754	1268	S>I		No	ClinGen gnomAD
CA151310003 rs906974055	1269	G>A		No	ClinGen TOPMed
CA366380099 rs1467965116	1272	R>G		No	ClinGen TOPMed gnomAD
rs780710522 CA4089084	1274	S>N		No	ClinGen ExAC TOPMed gnomAD
CA366380143 rs755068149	1278	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM207472 COSM207473 CA4089088 rs574843528	1278	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA4089086 rs755068149	1278	R>W		No	ClinGen ExAC TOPMed gnomAD
CA366380160 rs1392993163	1281	I>N		No	ClinGen gnomAD
CA366380162 rs1392993163	1281	I>S		No	ClinGen gnomAD
CA4089091 rs745695873	1283	Q>R		No	ClinGen ExAC gnomAD
rs1247030011 CA366380183	1284	S>T		No	ClinGen TOPMed
CA366380196 rs1321695665	1285	K>N		No	ClinGen gnomAD
CA4089126 rs375336046	1288	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs773869401 CA4089128	1289	S>C		No	ClinGen ExAC TOPMed gnomAD
CA366366386 rs773869401	1289	S>F		No	ClinGen ExAC TOPMed gnomAD
rs761410162 CA4089129	1291	L>P		No	ClinGen ExAC gnomAD
CA151276710 rs993359596	1294	I>M		No	ClinGen TOPMed
rs772984696 CA4089131	1294	I>T		No	ClinGen ExAC TOPMed gnomAD
rs771791988 CA4089130	1294	I>V		No	ClinGen ExAC
CA4089132 rs760466825	1295	E>K		No	ClinGen ExAC TOPMed gnomAD
CA366366559 rs1326824062	1297	I>V		No	ClinGen TOPMed
CA366366623 rs1333947349	1299	K>N		No	ClinGen gnomAD
rs766730896 CA4089134	1302	R>L		No	ClinGen ExAC TOPMed gnomAD
rs766730896 CA4089133	1302	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs758490251 CA4089138	1308	R>S		No	ClinGen ExAC gnomAD
rs147863138 CA4089137	1308	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4089136 rs765697681	1308	R>W		No	ClinGen ExAC gnomAD
rs1462037101 CA366366765	1310	R>*		No	ClinGen TOPMed
rs200121071 CA4089139	1310	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751776694 CA4089142	1312	M>I		No	ClinGen ExAC gnomAD
CA4089140 rs1554287151	1312	M>K		No	ClinGen Ensembl
rs1252731686 CA366366809	1313	R>K		No	ClinGen TOPMed gnomAD
CA366366826 rs1436105848	1314	R>I		No	ClinGen gnomAD
CA4089143 rs757461782	1318	I>T		No	ClinGen ExAC gnomAD
CA366366882 rs1181759156	1318	I>V		No	ClinGen TOPMed gnomAD
CA4089144 rs779878549	1320	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs778728572 CA4089147	1322	C>G		No	ClinGen ExAC gnomAD
rs778728572 CA366366931	1322	C>S		No	ClinGen ExAC gnomAD
rs748153185 CA4089148	1322	C>Y		No	ClinGen ExAC gnomAD
rs771704039 CA4089149	1323	D>G		No	ClinGen ExAC TOPMed gnomAD
rs368883700 CA4089151	1324	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs368883700 CA4089150	1324	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4089155 rs759826776	1326	K>E		No	ClinGen ExAC TOPMed gnomAD
rs759826776 CA4089154	1326	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA4089156 rs141444159	1328	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA151276871 rs141444159	1328	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1253252695 CA366367063	1331	V>A		No	ClinGen gnomAD
rs764128806 CA4089158	1331	V>I		No	ClinGen ExAC TOPMed gnomAD
CA366367078 rs1337537675	1332	M>T		No	ClinGen gnomAD
CA366367108 rs1254242980	1334	V>I		No	ClinGen gnomAD
rs778918025 CA4089164	1342	K>R		No	ClinGen ExAC TOPMed gnomAD
CA151276954 rs866353422	1347	N>K		No	ClinGen Ensembl
CA4089167 rs777366130	1349	I>L		No	ClinGen ExAC gnomAD
CA366368462 rs1583244613	1354	Y>D		No	ClinGen Ensembl
CA4089191 rs780348277	1356	K>T		No	ClinGen ExAC gnomAD
CA151278298 rs1054001872	1357	V>G		No	ClinGen TOPMed
rs749685721 CA4089192	1362	S>C		No	ClinGen ExAC gnomAD
CA4089194 rs774825182	1363	V>I		No	ClinGen ExAC TOPMed gnomAD
COSM1075763 CA4089196 rs772013786 COSM1075761	1364	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1408715582 CA366368775	1369	M>I		No	ClinGen gnomAD
rs759908441 COSM1075769 CA4089223 COSM1075767	1375	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs763953877 CA4089224	1378	P>S		No	ClinGen ExAC gnomAD
rs767522226 CA4089227	1387	T>I		No	ClinGen ExAC gnomAD
rs749838685 CA4089228	1388	A>S		No	ClinGen ExAC gnomAD
CA4089230 rs765938179	1389	D>V		No	ClinGen ExAC gnomAD
rs967319561 CA151279474 COSM1075770 COSM1075772	1390	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
CA4089232 rs754673160	1394	F>L		No	ClinGen ExAC gnomAD
CA4089234 rs748572761	1395	E>K		No	ClinGen ExAC gnomAD
rs758762308 CA4089235	1400	P>S		No	ClinGen ExAC gnomAD
CA151279509 rs879127821	1401	N>H		No	ClinGen Ensembl
CA4089236 rs372634209	1401	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs747578929 CA4089237	1403	V>I		No	ClinGen ExAC gnomAD
CA4089238 rs771133700	1404	R>Q		No	ClinGen ExAC gnomAD
CA151279518 rs1029881566	1404	R>W		No	ClinGen Ensembl
rs776895123 CA4089239	1408	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1168463596 CA366369705	1410	L>F		No	ClinGen TOPMed
rs1463459436 CA366369733	1412	R>T		No	ClinGen TOPMed
CA4089272 rs762555409	1429	E>*		No	ClinGen ExAC gnomAD
CA4089274 rs751994529	1432	R>S		No	ClinGen ExAC gnomAD
CA4089275 rs757803331	1434	G>E		No	ClinGen ExAC gnomAD
CA366370457 rs1425688857	1436	Q>E		No	ClinGen TOPMed
CA4089276 rs781766756	1436	Q>H		No	ClinGen ExAC gnomAD
CA366370511 rs1259708325	1440	I>V		No	ClinGen TOPMed
CA4089277 rs750475277	1447	I>T		No	ClinGen ExAC gnomAD
rs1486309350 CA366370642	1450	A>T		No	ClinGen TOPMed
rs755268177 CA151280399	1451	I>T		No	ClinGen Ensembl
rs780036188 CA4089279	1452	N>D		No	ClinGen ExAC gnomAD
rs1235048731 CA366370668	1452	N>S		No	ClinGen TOPMed gnomAD
rs768779875 CA4089281	1453	V>I		No	ClinGen ExAC TOPMed gnomAD
CA151280445 rs371315891	1456	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs938357066 CA151280463	1460	V>L		No	ClinGen TOPMed
rs1056763644 CA151280471	1461	H>R		No	ClinGen TOPMed
CA366370754 rs1170397798 COSM483665 COSM483666	1462	R>C	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM1075778 CA4089284 COSM1075776 rs770796845	1462	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs891541115 CA151280493	1464	I>V		No	ClinGen TOPMed
CA4089298 rs200904796	1466	G>D		No	ClinGen ExAC TOPMed gnomAD
rs780130744 CA4089299	1468	N>D		No	ClinGen ExAC gnomAD
CA366371224 rs1312721703	1468	N>S		No	ClinGen gnomAD
CA4089300 rs753891508	1472	T>I		No	ClinGen ExAC gnomAD
CA4089301 rs755161742	1474	S>C		No	ClinGen ExAC
rs373828888 CA151282711	1475	G>A		No	ClinGen ESP
CA366371343 rs1316091952	1486	V>A		No	ClinGen gnomAD
rs748425960 CA4089303	1486	V>I		No	ClinGen ExAC gnomAD
CA4089305 rs781006516	1488	L>P		No	ClinGen ExAC gnomAD
CA4089307 rs769642961	1489	K>R		No	ClinGen ExAC gnomAD
VAR_040692 CA4089308 rs41267837	1492	A>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA151282762 rs948691843	1496	P>A		No	ClinGen Ensembl
CA4089309 rs762377931	1496	P>L		No	ClinGen ExAC gnomAD
CA366371410 rs948691843	1496	P>S		No	ClinGen Ensembl
rs1456263899 CA366371479	1507	A>P		No	ClinGen gnomAD
rs773556218 CA4089334 COSM207481 COSM207480	1516	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA366371564 rs1440937929	1518	K>E		No	ClinGen TOPMed
CA366371572 rs1242754767	1519	G>R		No	ClinGen gnomAD
rs1396283522 CA366371588	1521	G>D		No	ClinGen TOPMed
rs1211045309 CA366371606	1524	R>C		No	ClinGen gnomAD
CA4089336 rs199760724	1525	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752797219 CA4089340	1535	V>I		No	ClinGen ExAC gnomAD
rs1477003192 CA366371688	1536	I>T		No	ClinGen TOPMed
rs1378742782 CA366371693	1537	E>Q		No	ClinGen gnomAD
rs1376959376 CA366371719	1540	T>I		No	ClinGen TOPMed
rs938134800 CA151285607	1546	H>Q		No	ClinGen gnomAD
rs938134800 CA366371775	1546	H>Q		No	ClinGen gnomAD
rs751730497 CA4089362	1550	H>Y		No	ClinGen ExAC gnomAD
rs1319324754 CA366371811	1551	N>S		No	ClinGen gnomAD
CA366371832 rs1196702249	1554	I>V		No	ClinGen gnomAD
rs1292756860 CA366371881	1560	M>I		No	ClinGen gnomAD
CA366371894 rs1184776868	1562	H>R		No	ClinGen Ensembl
CA366371913 rs1468758117	1565	P>S		No	ClinGen gnomAD
CA4089364 rs766067909	1566	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1166106512 CA366371925	1567	P>S		No	ClinGen TOPMed
CA4089366 rs754894475	1570	L>F		No	ClinGen ExAC gnomAD
CA151285630 rs1055701377	1580	H>Y		No	ClinGen Ensembl
CA4089367 rs146392673	1584	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA366372047 rs146392673	1584	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1420360832 CA366372051	1585	D>N		No	ClinGen gnomAD
rs1478805566 CA366372059	1586	P>T		No	ClinGen gnomAD
rs1449728510 CA366372065	1587	K>E		No	ClinGen TOPMed
COSM1257277 COSM1257276 rs1169181896 CA366372071	1587	K>N	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1400198285 CA366372077	1588	M>T		No	ClinGen gnomAD
CA4089368 rs377339482	1590	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA366372097 rs1583255621	1591	T>P		No	ClinGen Ensembl
rs201373492 CA151285647	1592	A>S		No	ClinGen ExAC gnomAD
rs201373492 CA4089371	1592	A>T		No	ClinGen ExAC gnomAD
rs1341834990 CA366372165	1601	V>I		No	ClinGen TOPMed gnomAD

No associated diseases with Q9Y6R4

3 regional properties for Q9Y6R4

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	1343 - 1601	IPR000719
active_site	Serine/threonine-protein kinase, active site	1459 - 1471	IPR008271
binding_site	Protein kinase, ATP binding site	1349 - 1372	IPR017441

Functions

		Description
EC Number	2.7.11.25	Protein-serine/threonine kinases
Subcellular Localization	Cytoplasm, perinuclear region	Localized in perinuclear vesicular-like structures, probably Golgi-associated vesicles
PANTHER Family	PTHR48016	MAP KINASE KINASE KINASE SSK2-RELATED-RELATED
PANTHER Subfamily	PTHR48016:SF32	MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 4
PANTHER Protein Class	non-receptor serine/threonine protein kinase protein modifying enzyme
PANTHER Pathway Category	Interleukin signaling pathway MEK Integrin signalling pathway ERK PDGF signaling pathway ERK FGF signaling pathway MEKK1-5 EGF receptor signaling pathway MEKK1-5 p38 MAPK pathway MEKK4 Inflammation mediated by chemokine and cytokine signaling pathway MEK Gonadotropin-releasing hormone receptor pathway MAP3Ks Oxidative stress response MKK4 Ras Pathway MEKK1/4

2 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.

5 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
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.
metal ion binding	Binding to a metal ion.
protein serine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine 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.

12 GO annotations of biological process

Name	Definition
chorionic trophoblast cell differentiation	The process in which relatively unspecialized cells of the ectoplacental cone acquire specialized structural and/or functional features that characterize chorionic trophoblasts. These cells will migrate towards the spongiotrophoblast layer and give rise to syncytiotrophoblasts of the labyrinthine layer.
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
male germ-line sex determination	The determination of sex and sexual phenotype in a male organism's germ line.
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.
placenta development	The process whose specific outcome is the progression of the placenta over time, from its formation to the mature structure. The placenta is an organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin.
positive regulation of JUN kinase activity	Any process that activates or increases the frequency, rate or extent of JUN kinase activity.
positive regulation of p38MAPK cascade	Any process that activates or increases the frequency, rate or extent of p38MAPK cascade.
positive regulation of telomerase activity	Any process that activates or increases the frequency, rate or extent of telomerase activity, the catalysis of the reaction: deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
positive regulation of telomere capping	Any process that activates or increases the frequency, rate or extent of telomere capping.
positive regulation of telomere maintenance via telomerase	Any process that activates or increases the frequency, rate or extent of the addition of telomeric repeats by telomerase.
regulation of gene expression	Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
response to UV-C	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a UV-C radiation stimulus. UV-C radiation (UV-C light) spans the wavelengths 100 to 280 nm.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P41279	MAP3K8	Mitogen-activated protein kinase kinase kinase 8	Homo sapiens (Human)	EV
O08648	Map3k4	Mitogen-activated protein kinase kinase kinase 4	Mus musculus (Mouse)	SS

10	20	30	40	50	60
MREAAAALVP	PPAFAVTPAA	AMEEPPPPPP	PPPPPPEPET	ESEPECCLAA	RQEGTLGDSA
70	80	90	100	110	120
CKSPESDLED	FSDETNTENL	YGTSPPSTPR	QMKRMSTKHQ	RNNVGRPASR	SNLKEKMNAP
130	140	150	160	170	180
NQPPHKDTGK	TVENVEEYSY	KQEKKIRAAL	RTTERDRKKN	VQCSFMLDSV	GGSLPKKSIP
190	200	210	220	230	240
DVDLNKPYLS	LGCSNAKLPV	SVPMPIARPA	RQTSRTDCPA	DRLKFFETLR	LLLKLTSVSK
250	260	270	280	290	300
KKDREQRGQE	NTSGFWLNRS	NELIWLELQA	WHAGRTINDQ	DFFLYTARQA	IPDIINEILT
310	320	330	340	350	360
FKVDYGSFAF	VRDRAGFNGT	SVEGQCKATP	GTKIVGYSTH	HEHLQRQRVS	FEQVKRIMEL
370	380	390	400	410	420
LEYIEALYPS	LQALQKDYEK	YAAKDFQDRV	QALCLWLNIT	KDLNQKLRIM	GTVLGIKNLS
430	440	450	460	470	480
DIGWPVFEIP	SPRPSKGNEP	EYEGDDTEGE	LKELESSTDE	SEEEQISDPR	VPEIRQPIDN
490	500	510	520	530	540
SFDIQSRDCI	SKKLERLESE	DDSLGWGAPD	WSTEAGFSRH	CLTSIYRPFV	DKALKQMGLR
550	560	570	580	590	600
KLILRLHKLM	DGSLQRARIA	LVKNDRPVEF	SEFPDPMWGS	DYVQLSRTPP	SSEEKCSAVS
610	620	630	640	650	660
WEELKAMDLP	SFEPAFLVLC	RVLLNVIHEC	LKLRLEQRPA	GEPSLLSIKQ	LVRECKEVLK
670	680	690	700	710	720
GGLLMKQYYQ	FMLQEVLEDL	EKPDCNIDAF	EEDLHKMLMV	YFDYMRSWIQ	MLQQLPQASH
730	740	750	760	770	780
SLKNLLEEEW	NFTKEITHYI	RGGEAQAGKL	FCDIAGMLLK	STGSFLEFGL	QESCAEFWTS
790	800	810	820	830	840
ADDSSASDEI	RRSVIEISRA	LKELFHEARE	RASKALGFAK	MLRKDLEIAA	EFRLSAPVRD
850	860	870	880	890	900
LLDVLKSKQY	VKVQIPGLEN	LQMFVPDTLA	EEKSIILQLL	NAAAGKDCSK	DSDDVLIDAY
910	920	930	940	950	960
LLLTKHGDRA	RDSEDSWGTW	EAQPVKVVPQ	VETVDTLRSM	QVDNLLLVVM	QSAHLTIQRK
970	980	990	1000	1010	1020
AFQQSIEGLM	TLCQEQTSSQ	PVIAKALQQL	KNDALELCNR	ISNAIDRVDH	MFTSEFDAEV
1030	1040	1050	1060	1070	1080
DESESVTLQQ	YYREAMIQGY	NFGFEYHKEV	VRLMSGEFRQ	KIGDKYISFA	RKWMNYVLTK
1090	1100	1110	1120	1130	1140
CESGRGTRPR	WATQGFDFLQ	AIEPAFISAL	PEDDFLSLQA	LMNECIGHVI	GKPHSPVTGL
1150	1160	1170	1180	1190	1200
YLAIHRNSPR	PMKVPRCHSD	PPNPHLIIPT	PEGFSTRSMP	SDARSHGSPA	AAAAAAAAAV
1210	1220	1230	1240	1250	1260
AASRPSPSGG	DSVLPKSISS	AHDTRGSSVP	ENDRLASIAA	ELQFRSLSRH	SSPTEERDEP
1270	1280	1290	1300	1310	1320
AYPRGDSSGS	TRRSWELRTL	ISQSKDTASK	LGPIEAIQKS	VRLFEEKRYR	EMRRKNIIGQ
1330	1340	1350	1360	1370	1380
VCDTPKSYDN	VMHVGLRKVT	FKWQRGNKIG	EGQYGKVYTC	ISVDTGELMA	MKEIRFQPND
1390	1400	1410	1420	1430	1440
HKTIKETADE	LKIFEGIKHP	NLVRYFGVEL	HREEMYIFME	YCDEGTLEEV	SRLGLQEHVI
1450	1460	1470	1480	1490	1500
RLYSKQITIA	INVLHEHGIV	HRDIKGANIF	LTSSGLIKLG	DFGCSVKLKN	NAQTMPGEVN
1510	1520	1530	1540	1550	1560
STLGTAAYMA	PEVITRAKGE	GHGRAADIWS	LGCVVIEMVT	GKRPWHEYEH	NFQIMYKVGM
1570	1580	1590	1600
GHKPPIPERL	SPEGKDFLSH	CLESDPKMRW	TASQLLDHSF	VKVCTDEE