AiPD: Autoinhibited Protein Database

P29475

Gene name	NOS1
Protein name	Nitric oxide synthase, brain
Names	Constitutive NOS, NC-NOS, NOS type I, Neuronal NOS, N-NOS, nNOS, Peptidyl-cysteine S-nitrosylase NOS1, bNOS
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4842
EC number	1.14.13.39: With NADH or NADPH as one donor, and incorporation of one atom of oxygen
Protein Class

Descriptions

Nitric oxide synthase produces nitric oxide (NO) which is implicated in vascular smooth muscle relaxation through a cGMP-mediated signal transduction pathway. The primary sequences of the three mammalian nitric oxide synthase (NOS) isoforms differ by the insertion of a 52-55-amino acid loop into the reductase domains of the endothelial (eNOS) and neuronal (nNOS), but not inducible (iNOS). The loop mediates the autoinhibition in eNOS and nNOS. Deletion of the autoinhibitory loop in bovine eNOS increases its catalytic acitivity.

Autoinhibitory domains (AIDs)

833-874 (Autoinhibitory loop) SS

Target domain	357-717 (NO synthase domain); 995-1363 (FAD/NAD-binding domain)
Relief mechanism	Partner binding
Assay

AID

833-874 (Autoinhibitory loop)

Target domain

357-717 (NO synthase domain); 995-1363 (FAD/NAD-binding domain)

Relief mechanism

Partner binding (CaM binding)

Assay

Accessory elements

No accessory elements

References

Nishida CR et al. (1999) "Autoinhibition of endothelial nitric-oxide synthase. Identification of an electron transfer control element", The Journal of biological chemistry, 274, 14692-8

Autoinhibited structure

Activated structure

95 structures for P29475

Entry ID	Method	Resolution	Chain	Position	Source
4D1N	X-ray	203 A	A/B/C/D	302-721	PDB
4UCH	X-ray	220 A	A/B	302-723	PDB
4UH5	X-ray	198 A	A/B	302-722	PDB
4UH6	X-ray	198 A	A/B	302-722	PDB
4V3U	X-ray	230 A	A/B/C/D	302-721	PDB
5ADF	X-ray	197 A	A/B	302-722	PDB
5ADG	X-ray	198 A	A/B	302-722	PDB
5ADI	X-ray	220 A	A/B	302-722	PDB
5FVU	X-ray	222 A	A/B	302-722	PDB
5FVV	X-ray	205 A	A/B	302-722	PDB
5FVW	X-ray	220 A	A/B	302-722	PDB
5FVX	X-ray	230 A	A/B	302-722	PDB
5UO1	X-ray	190 A	A/B	302-722	PDB
5UO2	X-ray	195 A	A/B	302-722	PDB
5UO3	X-ray	220 A	A/B	302-722	PDB
5UO4	X-ray	200 A	A/B	302-722	PDB
5UO5	X-ray	200 A	A/B	302-722	PDB
5UO6	X-ray	196 A	A/B	302-722	PDB
5UO7	X-ray	206 A	A/B	302-722	PDB
5VUV	X-ray	198 A	A/B	302-722	PDB
5VUW	X-ray	203 A	A/B	302-722	PDB
5VUX	X-ray	230 A	A/B	302-722	PDB
5VUY	X-ray	215 A	A/B	302-722	PDB
5VUZ	X-ray	197 A	A/B	302-722	PDB
5VV0	X-ray	180 A	A/B	302-722	PDB
5VV1	X-ray	195 A	A/B	302-722	PDB
5VV2	X-ray	200 A	A/B	302-722	PDB
5VV3	X-ray	218 A	A/B	302-722	PDB
5VV4	X-ray	210 A	A/B	302-722	PDB
5VV5	X-ray	215 A	A/B	302-722	PDB
6AUY	X-ray	192 A	A/B	302-722	PDB
6AUZ	X-ray	200 A	A/B	302-722	PDB
6AV0	X-ray	200 A	A/B	302-722	PDB
6AV1	X-ray	245 A	A/B	302-722	PDB
6AV2	X-ray	210 A	A/B	302-722	PDB
6AV3	X-ray	195 A	A/B	302-722	PDB
6AV4	X-ray	187 A	A/B	302-722	PDB
6AV5	X-ray	190 A	A/B	302-722	PDB
6CIC	X-ray	175 A	A/B	302-722	PDB
6CID	X-ray	175 A	A/B	302-722	PDB
6NG1	X-ray	215 A	A/B	302-722	PDB
6NG2	X-ray	193 A	A/B	302-722	PDB
6NG4	X-ray	178 A	A/B	302-722	PDB
6NG5	X-ray	196 A	A/B	302-722	PDB
6NG6	X-ray	204 A	A/B	302-722	PDB
6NG7	X-ray	200 A	A/B	302-722	PDB
6NG8	X-ray	190 A	A/B	302-722	PDB
6NGA	X-ray	198 A	A/B	302-722	PDB
6NGB	X-ray	190 A	A/B	302-722	PDB
6NGC	X-ray	200 A	A/B	302-722	PDB
6NGD	X-ray	180 A	A/B	302-722	PDB
6NGE	X-ray	210 A	A/B	302-722	PDB
6NGF	X-ray	199 A	A/B	302-722	PDB
6NGH	X-ray	200 A	A/B	302-722	PDB
6NGI	X-ray	180 A	A/B	302-722	PDB
6NHB	X-ray	203 A	A/B	302-722	PDB
6NHC	X-ray	216 A	A/B	302-722	PDB
6PNA	X-ray	195 A	A/B	302-722	PDB
6PNB	X-ray	205 A	A/B	302-722	PDB
6PNC	X-ray	215 A	A/B	302-722	PDB
6PND	X-ray	240 A	A/B	302-722	PDB
6PNE	X-ray	210 A	A/B	302-722	PDB
6PNF	X-ray	210 A	A/B	302-722	PDB
6PNG	X-ray	177 A	A/B	302-722	PDB
6PNH	X-ray	185 A	A/B	302-722	PDB
6PO5	X-ray	182 A	A/B	302-722	PDB
6PO7	X-ray	195 A	A/B	302-722	PDB
6PO8	X-ray	190 A	A/B	302-722	PDB
6PO9	X-ray	181 A	A/B	302-722	PDB
6POA	X-ray	181 A	A/B	302-722	PDB
6POB	X-ray	195 A	A/B	302-722	PDB
6POC	X-ray	200 A	A/B	302-722	PDB
6POT	X-ray	230 A	A/B	302-722	PDB
7TS1	X-ray	206 A	A/B/C/D	302-722	PDB
7TS2	X-ray	198 A	A/B/C/D	302-722	PDB
7TS3	X-ray	210 A	A/B/C/D	302-722	PDB
7TS4	X-ray	185 A	A/B/C/D	302-722	PDB
7TS5	X-ray	184 A	A/B/C/D	302-722	PDB
7TS6	X-ray	180 A	A/B/C/D	302-722	PDB
7TS7	X-ray	190 A	A/B/C/D	302-722	PDB
7TS8	X-ray	230 A	A/B/C/D	302-722	PDB
7UAM	X-ray	184 A	A/B/C/D	302-722	PDB
7US7	X-ray	193 A	A/B/C/D	302-722	PDB
7US8	X-ray	182 A	A/B/C/D	302-722	PDB
8BI8	X-ray	159 A	A/B	105-125	PDB
8BI9	X-ray	144 A	A/B/C/D	105-125	PDB
8FGF	X-ray	183 A	A/B	302-722	PDB
8FGG	X-ray	186 A	A/B	302-722	PDB
8FGH	X-ray	217 A	A/B/C/D	302-722	PDB
8FGI	X-ray	215 A	A/B	302-722	PDB
8FGJ	X-ray	215 A	A/B/C/D	302-722	PDB
8FGK	X-ray	225 A	A/B/C/D	302-722	PDB
8FGL	X-ray	210 A	A/B/C/D	302-722	PDB
8FGM	X-ray	210 A	A/B/C/D	302-722	PDB
AF-P29475-F1	Predicted				AlphaFoldDB

915 variants for P29475

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA6815544 rs774252894	3	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1322071482 CA386904858	3	D>N		No	ClinGen gnomAD
rs1410309821 CA386904841	4	H>R		No	ClinGen gnomAD
rs370088613 CA6815543	5	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA244248774 rs946993012	5	M>T		No	ClinGen TOPMed gnomAD
rs949530892 CA244248775 COSM1511007	5	M>V	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1337271439 CA386904798	7	G>A		No	ClinGen gnomAD
CA6815541 rs773636678 COSM3384072	7	G>S	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA244248740 rs866673089	8	V>A		No	ClinGen Ensembl
rs375081888 CA6815540	8	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6815537 rs569264110	12	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745425317 CA6815536	13	P>T		No	ClinGen ExAC gnomAD
rs1469652520 CA386904706	14	N>S		No	ClinGen TOPMed
rs1168666404 CA386904697	15	V>I		No	ClinGen TOPMed gnomAD
rs778266842 CA6815535	16	I>V		No	ClinGen ExAC gnomAD
CA6815534 rs78402290	19	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6815533 rs374891208	19	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs374891208 CA386904654	19	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA386904658 rs78402290	19	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6815532 rs777500410	21	F>L		No	ClinGen ExAC gnomAD
COSM3980798 CA6815531 rs549377164	23	R>C	ovary [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs56308341 CA244248718	23	R>H		No	ClinGen gnomAD
rs145235328 CA6815529	25	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA386904589 rs752487139	25	V>F		No	ClinGen ExAC TOPMed gnomAD
CA6815530 rs752487139	25	V>I		No	ClinGen ExAC TOPMed gnomAD
rs201449570 CA244248717	27	G>S		No	ClinGen Ensembl
CA6815528 rs754837095	30	F>V		No	ClinGen ExAC gnomAD
CA244248711 rs1019323911	32	V>L		No	ClinGen Ensembl
CA6815527 rs751721832	34	E>K		No	ClinGen ExAC gnomAD
CA6815526 rs766368147	35	R>W		No	ClinGen ExAC gnomAD
rs1206259730 CA386904485	36	V>I		No	ClinGen Ensembl
CA386904472 rs1380488252	37	S>G		No	ClinGen TOPMed gnomAD
CA6815525 rs548157712	37	S>N		No	ClinGen ExAC TOPMed gnomAD
CA244248693 rs548157712	37	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1296555410 CA386904443	39	P>L		No	ClinGen gnomAD
rs769257699 CA6815520	41	V>M		No	ClinGen ExAC TOPMed gnomAD
CA6815519 rs761071680	44	S>F		No	ClinGen ExAC gnomAD
COSM84194 CA244248682 rs80348085	48	R>C	lung pancreas large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA6815517 rs201294492	48	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201294492 CA6815518	48	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA244248683 rs80348085	48	R>S		No	ClinGen TOPMed gnomAD
rs1419117007 CA386904351	49	G>A		No	ClinGen gnomAD
CA6815515 rs777590341	51	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1479588561 CA386904327	51	A>V		No	ClinGen TOPMed
CA386904313 rs1414466576	52	A>V		No	ClinGen Ensembl
CA6815512 rs373710373	54	Q>H		No	ClinGen ESP ExAC gnomAD
CA386904275 rs1241941856	55	S>T		No	ClinGen gnomAD
CA386904260 rs1214586830	57	L>F		No	ClinGen TOPMed gnomAD
CA6815510 rs751458129	59	Q>*		No	ClinGen ExAC gnomAD
rs779984791 CA6815509	59	Q>R		No	ClinGen ExAC gnomAD
rs1394322940 CA386904193	63	I>V		No	ClinGen TOPMed
rs765487557 CA6815506	65	L>F		No	ClinGen ExAC gnomAD
CA386904165 rs1285680805	66	A>T		No	ClinGen gnomAD
rs753545150 CA244248610	66	A>V		No	ClinGen gnomAD
rs775871179 CA6815501	69	G>D		No	ClinGen ExAC gnomAD
CA6815502 rs777633286	69	G>S		No	ClinGen ExAC TOPMed gnomAD
CA6815500 rs74738204 COSM546817	70	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM2149623 CA386904140 rs1362576199	70	R>W	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6815499 rs762582319	71	P>S		No	ClinGen ExAC gnomAD
rs1034845779 CA244248569	75	L>V		No	ClinGen TOPMed
rs776281719 CA6815495	76	S>N		No	ClinGen ExAC gnomAD
CA386904096 rs1205518048	77	Y>C		No	ClinGen gnomAD
rs368050156 CA244248568	79	S>G		No	ClinGen ESP TOPMed gnomAD
rs368050156 CA386904084	79	S>R		No	ClinGen ESP TOPMed gnomAD
CA6815493 rs746769960	80	A>T		No	ClinGen ExAC gnomAD
rs1285392947 CA386904064	82	E>A		No	ClinGen gnomAD
CA386904030 rs1403290060	86	G>S		No	ClinGen gnomAD
COSM337325 CA6815491 rs758303840	88	A>G	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA244248548 rs936518846	94	V>F		No	ClinGen gnomAD
CA6815487 rs754008946	96	I>S		No	ClinGen ExAC gnomAD
CA6815486 rs370576212	98	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1221808877 CA386903899	98	R>T		No	ClinGen TOPMed
CA386903902 rs1245774175	98	R>W		No	ClinGen gnomAD
rs756453720 CA6815485	99	G>A		No	ClinGen ExAC TOPMed gnomAD
rs376848682 CA6815483	100	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs376848682 CA6815484	100	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs76839820 CA244248536	105	T>M		No	ClinGen TOPMed gnomAD
CA6815481 rs576405480	106	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs866876186 CA244248517	109	T>A		No	ClinGen gnomAD
rs912465104 CA244248513	110	T>A		No	ClinGen Ensembl
rs761350295 CA6815479	112	T>A		No	ClinGen ExAC TOPMed gnomAD
CA6815478 rs75386866	112	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6815476 rs746824023	113	G>C		No	ClinGen ExAC gnomAD
CA6815475 rs775337157	113	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1318111976 CA386903733	114	D>G		No	ClinGen TOPMed gnomAD
CA386903725 rs1487091479	115	G>R		No	ClinGen gnomAD
rs1408958576 CA386903698	117	P>L		No	ClinGen gnomAD
CA244248491 rs890663075	118	K>R		No	ClinGen TOPMed gnomAD
rs1424014572 CA386903667	120	I>S		No	ClinGen gnomAD
COSM240907 rs1245413261 CA386903660	121	R>Q	prostate [Cosmic]	No	ClinGen cosmic curated TOPMed
CA386903652 rs1243472085	122	V>L		No	ClinGen gnomAD
CA6815470 rs749337422	125	P>H		No	ClinGen ExAC TOPMed gnomAD
rs757340203 CA6815471	125	P>S		No	ClinGen ExAC gnomAD
CA6815469 rs777885568	127	G>D		No	ClinGen ExAC TOPMed gnomAD
CA386903598 rs777885568	127	G>V		No	ClinGen ExAC TOPMed gnomAD
CA386903597 rs1203554556	128	P>A		No	ClinGen TOPMed
CA386903595 rs1203554556	128	P>T		No	ClinGen TOPMed
rs759988872 CA6815468	133	V>M		No	ClinGen ExAC TOPMed gnomAD
CA386903527 rs1441968501	134	D>G		No	ClinGen gnomAD
rs767978053 CA6815466	136	S>F		No	ClinGen ExAC gnomAD
rs753051401 CA6815467	136	S>T		No	ClinGen ExAC TOPMed gnomAD
CA386903499 rs1593028171	137	H>P		No	ClinGen Ensembl
rs752127138 COSM3719703 CA6815464	140	P>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs752127138 CA386903462	140	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA6815461 rs753362512	141	A>D		No	ClinGen ExAC gnomAD
rs760365815 CA386903451	142	G>C		No	ClinGen ExAC TOPMed gnomAD
rs1328979900 CA386903449	142	G>D		No	ClinGen TOPMed gnomAD
rs760365815 COSM691883 CA6815459	142	G>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA386903447 rs1328979900	142	G>V		No	ClinGen TOPMed gnomAD
rs1566079201 CA386903420	146	P>S		No	ClinGen Ensembl
rs774290291 CA6815455	147	L>Q		No	ClinGen ExAC gnomAD
rs770811286 CA6815454	148	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1025151451 CA244248448	148	A>T		No	ClinGen gnomAD
CA6815453 rs749367596	149	V>A		No	ClinGen ExAC gnomAD
CA386903408 COSM370423 rs1448611783	149	V>L	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs368845605 CA6815452	151	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1593028094 CA386903386	152	A>G		No	ClinGen Ensembl
RCV000969276 CA6815450 rs41514244	153	S>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA386903383 rs1593028065	153	S>P		No	ClinGen Ensembl
CA244248427 rs41514244	153	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6815448 rs755417186	154	G>C		No	ClinGen ExAC gnomAD
rs199870977 CA6815447	155	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA244248393 rs1022440872	156	G>A		No	ClinGen TOPMed
rs758921664 CA6815445	156	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6815443 rs763659728	159	P>T		No	ClinGen ExAC TOPMed gnomAD
CA386903347 rs1307082088	160	Q>K		No	ClinGen gnomAD
CA386903343 rs1425032246	160	Q>R		No	ClinGen TOPMed gnomAD
CA386903333 rs1161472188	161	H>Q		No	ClinGen gnomAD
CA244248373 rs867933611	164	D>G		No	ClinGen Ensembl
CA6815440 rs559110279	164	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1182847393 CA386903311	165	D>N		No	ClinGen TOPMed
rs1179024041 CA386903306	165	D>V		No	ClinGen gnomAD
rs774097948 CA6815438	166	G>E		No	ClinGen ExAC gnomAD
CA6815439 rs767105869	166	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6815437 rs774097948	166	G>V		No	ClinGen ExAC gnomAD
CA386903272 rs1420398572	170	G>A		No	ClinGen TOPMed
CA386903278 rs1221307911	170	G>S		No	ClinGen gnomAD
CA386903256 rs1169024437	171	S>L		No	ClinGen TOPMed gnomAD
CA386903236 rs1317973852	173	P>L		No	ClinGen gnomAD
CA244248353 rs918214154	173	P>S		No	ClinGen Ensembl
rs372299035 CA6815433	174	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA6815432 rs769933208	174	H>P		No	ClinGen ExAC gnomAD
CA244248338 rs1030620420	176	N>H		No	ClinGen TOPMed gnomAD
CA386903189 rs1469756766	177	G>D		No	ClinGen TOPMed
rs41340250 CA6815429	177	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA386903178 rs1315645257	178	L>P		No	ClinGen TOPMed
CA6815428 rs747431463	179	A>V		No	ClinGen ExAC gnomAD
rs1161262948 CA386903161	180	P>L		No	ClinGen gnomAD
rs41474747 CA6815426	180	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA386903148 rs1398989481	182	P>S		No	ClinGen gnomAD
rs750946444 CA6815425	184	G>D		No	ClinGen ExAC gnomAD
rs267603328 CA244248293	186	D>N		No	ClinGen Ensembl
rs200282713 CA244248291	187	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA6815423 rs549340789	187	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6815424 rs200282713	187	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA386903104 rs374847966	188	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA244248264 rs374847966	188	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs529671468 CA6815420	188	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM246067 rs529671468 CA6815419	188	A>T	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
COSM1359125 CA6815418 rs374847966	188	A>V	pancreas large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA386903061 rs1245463007	195	S>G		No	ClinGen gnomAD
CA244248252 rs940780088	198	G>A		No	ClinGen TOPMed gnomAD
rs776831320 CA6815413	200	G>A		No	ClinGen ExAC gnomAD
rs762024638 CA6815414	200	G>R		No	ClinGen ExAC gnomAD
rs769060820 CA6815412	202	N>D		No	ClinGen ExAC gnomAD
CA386902991 rs1031458060	202	N>K		No	ClinGen TOPMed gnomAD
rs1031458060 CA244248215	202	N>K		No	ClinGen TOPMed gnomAD
CA386903001 rs769060820	202	N>Y		No	ClinGen ExAC gnomAD
rs747233530 CA6815411	203	N>D		No	ClinGen ExAC gnomAD
CA6815410 rs775790147	204	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1337391335 CA386902955	205	L>M		No	ClinGen gnomAD
CA386902873 rs757669144	210	E>D		No	ClinGen ExAC gnomAD
rs779502186 CA6815407	210	E>K		No	ClinGen ExAC gnomAD
CA386902854 rs1407015472	212	V>L		No	ClinGen TOPMed
CA244248178 rs766738321	215	L>R		No	ClinGen TOPMed
rs55922940 CA6815404	216	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA386902819 rs1244366219	216	L>V		No	ClinGen gnomAD
rs1555261239 CA386902772	219	G>E		No	ClinGen Ensembl
rs367886122 CA6815402	220	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1208937144 CA386902750	221	R>K		No	ClinGen TOPMed gnomAD
CA386902748 rs1208937144	221	R>T		No	ClinGen TOPMed gnomAD
CA386902730 rs1297380986 COSM337324	223	V>F	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1297380986 CA386902728	223	V>I		No	ClinGen gnomAD
CA386902708 rs1202286172	225	G>R		No	ClinGen TOPMed
rs374287206 CA6815398	227	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs750155039 CA6815399	227	A>S		No	ClinGen ExAC gnomAD
rs761832596 CA6815397	228	P>L		No	ClinGen ExAC TOPMed gnomAD
VAR_018948 rs9658279 CA244248142	228	P>S		No	ClinGen UniProt Ensembl dbSNP
COSM691884 CA244248135 rs999942391	233	M>I	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
CA386902608 rs1302361946	233	M>R		No	ClinGen gnomAD
CA6815396 rs776921969	236	M>L		No	ClinGen ExAC gnomAD
CA244248131 rs763377414	236	M>T		No	ClinGen gnomAD
rs1593027683 CA386902549	237	G>E		No	ClinGen Ensembl
CA6815395 rs764276642	238	I>S		No	ClinGen ExAC gnomAD
CA386902541 rs1167094178	238	I>V		No	ClinGen gnomAD
rs1479898551 CA386902522	239	Q>H		No	ClinGen TOPMed
rs773556747 CA6815394	239	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs76090928 RCV000973255 CA6815393	241	D>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs772142612 CA6815392	242	R>T		No	ClinGen ExAC gnomAD
CA386911763 rs1354166567	245	D>V		No	ClinGen gnomAD
rs1318855938 CA386911758	246	G>D		No	ClinGen gnomAD
CA6815354 rs565798426	246	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1318855938 CA386911756	246	G>V		No	ClinGen gnomAD
rs760865385 CA6815353	247	K>R		No	ClinGen ExAC TOPMed gnomAD
rs752685698 CA6815352	249	H>N		No	ClinGen ExAC gnomAD
rs1346400851 CA386911735	250	K>Q		No	ClinGen gnomAD
rs1256919903 CA386911712	253	P>L		No	ClinGen Ensembl
rs372496012 CA6815349	253	P>S		No	ClinGen ESP ExAC gnomAD
rs199588951 CA6815346	255	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6815344 rs746579521	256	V>M		No	ClinGen ExAC TOPMed gnomAD
CA386911694 rs1200717259	257	E>Q		No	ClinGen gnomAD
CA6815343 rs777022692	259	D>N		No	ClinGen ExAC TOPMed gnomAD
CA386911671 rs1245846929	260	R>*		No	ClinGen gnomAD
CA6815342 rs547371716	260	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs745516106 CA6815341	261	V>A		No	ClinGen ExAC TOPMed gnomAD
rs200602438 CA6815340	262	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs375497770 CA6815338	263	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6815336 rs756094857	264	D>N		No	ClinGen ExAC gnomAD
CA6815334 rs767489788	266	W>L		No	ClinGen ExAC TOPMed gnomAD
rs1387099412 CA386911621	268	K>E		No	ClinGen gnomAD
rs372978384 CA6815332	268	K>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs201396150 CA244273642	268	K>N		No	ClinGen ExAC TOPMed gnomAD
CA386911613 rs1233390846	269	G>D		No	ClinGen Ensembl
rs1295576792 CA386911616	269	G>R		No	ClinGen TOPMed
rs1393586680 CA386911586	273	V>A		No	ClinGen gnomAD
rs1051778934 CA244273627	274	V>I		No	ClinGen TOPMed gnomAD
CA244273625 rs376609433	278	P>R		No	ClinGen ESP TOPMed
CA244273626 rs933334484	278	P>S		No	ClinGen TOPMed
CA6815327 rs770343491	279	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1208168663 CA386911544	280	S>A		No	ClinGen gnomAD
rs1423115002 CA386911540	281	E>Q		No	ClinGen gnomAD
rs1461864723 CA386911522	283	E>K		No	ClinGen gnomAD
rs1280958396 CA386911514	284	Q>E		No	ClinGen gnomAD
CA386910261 rs1307176983	286	P>H		No	ClinGen gnomAD
rs1405394267 CA386910247	287	T>I		No	ClinGen TOPMed gnomAD
rs1336788504 CA386910237	288	S>L		No	ClinGen Ensembl
rs147820513 CA244259381 COSM106490	289	G>E	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs764624751 CA6815307	290	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1321550023 CA386910200	292	S>F		No	ClinGen gnomAD
CA386910203 rs1592993993	292	S>P		No	ClinGen Ensembl
rs200423967 CA6815305	293	P>L		No	ClinGen ExAC gnomAD
CA386910190 rs1391957205	293	P>S		No	ClinGen TOPMed
CA386910152 rs1471696897	297	G>R		No	ClinGen gnomAD
rs1411589557 CA386910133	298	S>R		No	ClinGen gnomAD
CA386910135 rs1411589557	298	S>R		No	ClinGen gnomAD
rs770763591 CA6815304	300	S>F		No	ClinGen ExAC gnomAD
rs1283182059 CA386910102	302	C>R		No	ClinGen TOPMed gnomAD
CA6815302 rs763590379	304	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1221421201 CA386910076	304	R>H		No	ClinGen gnomAD
CA6815303 rs763590379	304	R>S		No	ClinGen ExAC TOPMed gnomAD
rs769487502 CA6815301	307	K>E		No	ClinGen ExAC TOPMed gnomAD
rs760095341 CA244259317	307	K>R		No	ClinGen Ensembl
CA6815299 rs781021757	308	V>I		No	ClinGen ExAC gnomAD
CA6815298 rs754922577	311	W>L		No	ClinGen ExAC
rs1313383350 CA386909950	315	V>G		No	ClinGen TOPMed
rs56219642 CA244259306	315	V>M		No	ClinGen Ensembl
rs758408165 CA386909921	318	T>N		No	ClinGen ExAC gnomAD
rs758408165 CA6815295	318	T>S		No	ClinGen ExAC gnomAD
CA386909898 rs1369419347	320	T>I		No	ClinGen gnomAD
rs1291596306 CA386909893	321	L>V		No	ClinGen gnomAD
CA244259292 rs1039980993	323	L>F		No	ClinGen Ensembl
rs750659796 CA6815294	325	S>G		No	ClinGen ExAC gnomAD
CA6815293 rs368132541	325	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs757597537 CA6815292	326	T>A		No	ClinGen ExAC gnomAD
CA386909832 rs1236456748	327	L>S		No	ClinGen TOPMed
rs779912233 CA6815279	329	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1467655883 CA386909488	332	T>A		No	ClinGen TOPMed
CA386909452 rs1199310857	335	I>T		No	ClinGen gnomAD
rs757474988 CA6815275	336	C>G		No	ClinGen ExAC gnomAD
rs1189709236 CA386909429	337	M>I		No	ClinGen TOPMed
CA6815273 rs778193628	337	M>T		No	ClinGen ExAC gnomAD
rs1446279194 CA386909400	340	I>T		No	ClinGen TOPMed gnomAD
CA244258314 rs954406988	341	M>L		No	ClinGen TOPMed
rs762584000 CA6815269	344	S>A		No	ClinGen ExAC gnomAD
rs1192894716 CA386909345	345	Q>H		No	ClinGen TOPMed
rs1253935526 CA386909341	346	H>N		No	ClinGen gnomAD
CA244258308 rs541019278	346	H>R		No	ClinGen Ensembl
rs1253935526 CA386909339	346	H>Y		No	ClinGen gnomAD
CA6815267 rs569290967	348	R>K		No	ClinGen 1000Genomes ExAC gnomAD
rs761522933 CA6815266	349	R>K		No	ClinGen ExAC gnomAD
CA244258277 rs4519169	350	P>L		No	ClinGen Ensembl
rs1313443655 CA386909284	351	E>Q		No	ClinGen gnomAD
CA386909272 rs1397926815	352	D>V		No	ClinGen gnomAD
CA6815262 rs202090735	353	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs773542050 CA6815261	354	R>C		No	ClinGen ExAC TOPMed gnomAD
rs745999473 CA6815260	354	R>H		No	ClinGen ExAC TOPMed gnomAD
CA386909255 rs1167117878	355	T>I		No	ClinGen gnomAD
rs868297135 CA244258262	357	G>R		No	ClinGen Ensembl
CA6815258 rs771120748	358	Q>P		No	ClinGen ExAC gnomAD
CA386909224 rs771120748	358	Q>R		No	ClinGen ExAC gnomAD
CA6815255 rs756569020	360	F>L		No	ClinGen ExAC gnomAD
CA6815254 rs183839261	361	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs149855373 CA244258237	363	A>T		No	ClinGen 1000Genomes
rs201351707 CA244258235	364	K>E		No	ClinGen gnomAD
rs567015675 CA6815253	365	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs755518317 CA6815252	367	I>V		No	ClinGen ExAC gnomAD
CA244258218 rs970146959	369	Q>R		No	ClinGen TOPMed
CA244258211 rs867313834	372	S>L		No	ClinGen Ensembl
rs1336241434 CA386909062	374	I>V		No	ClinGen Ensembl
rs191073515 CA6815223	378	G>A		No	ClinGen 1000Genomes ExAC gnomAD
rs868365618 CA244257386	383	M>I		No	ClinGen Ensembl
rs1566059407 CA386908701	383	M>V		No	ClinGen Ensembl
CA6815222 rs766186142	384	E>K		No	ClinGen ExAC gnomAD
CA6815221 rs763131189	385	R>G		No	ClinGen ExAC gnomAD
rs770197855 CA6815219	385	R>S		No	ClinGen ExAC TOPMed gnomAD
rs748387925 CA6815218	388	E>Q		No	ClinGen ExAC gnomAD
rs758782779 CA6815217	391	K>R		No	ClinGen ExAC TOPMed gnomAD
CA386908592 rs1566059376	392	E>Q		No	ClinGen Ensembl
VAR_018949 rs9658356 CA6815214 RCV000954872	394	D>A		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs527486045 CA6815215	394	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA386908548 COSM1605621 rs1231615758	396	T>A	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA386908538 rs1592989536	397	S>G		No	ClinGen Ensembl
rs1353870412 COSM2157587 CA386908521	398	T>I	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed
rs758813540 CA6815213	398	T>P		No	ClinGen ExAC gnomAD
rs748889660 CA6815212	402	K>E		No	ClinGen ExAC gnomAD
CA386908477 rs1447367032	402	K>M		No	ClinGen TOPMed
CA6815210 rs755552179	408	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs755552179 CA386908408	408	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs752357478 CA6815209	409	G>R		No	ClinGen ExAC gnomAD
rs1041887373 CA244257334	411	K>N		No	ClinGen TOPMed gnomAD
rs1351277665 CA386908372	411	K>R		No	ClinGen TOPMed
rs1394375527 CA386908342	413	A>D		No	ClinGen gnomAD
rs1451276089 CA386908321 COSM174331	415	R>Q	large_intestine central_nervous_system breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA244257324 rs922724760	417	A>V		No	ClinGen TOPMed
rs766387733 CA6815205	418	S>L		No	ClinGen ExAC gnomAD
rs913433943 COSM3398402 CA244257310	419	R>C	large_intestine central_nervous_system [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1195781821 CA386908287 COSM3398401	419	R>H	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1440396424 CA386908279	420	C>Y		No	ClinGen TOPMed
rs771093449 CA244257005	433	D>N		No	ClinGen Ensembl
CA386908081 rs1308404670	435	R>H		No	ClinGen gnomAD
CA6815181 rs200231850	438	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA386908054 COSM132737 rs1368606834	439	T>M	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
CA386908051 rs1405906005	440	A>T		No	ClinGen gnomAD
CA6815179 rs772332789	441	H>R		No	ClinGen ExAC gnomAD
rs774868068 CA6815177	442	G>R		No	ClinGen ExAC gnomAD
rs1184759706 CA386908012	445	N>S		No	ClinGen TOPMed gnomAD
rs780553575 CA6815174	450	H>P		No	ClinGen ExAC gnomAD
CA244256979 COSM3670979 rs867162592	454	A>V	prostate [Cosmic]	No	ClinGen cosmic curated Ensembl
CA386907706 rs1248031256	466	I>M		No	ClinGen gnomAD
rs756175874 CA6815147	466	I>T		No	ClinGen ExAC gnomAD
CA386907684 rs1592983325	468	P>L		No	ClinGen Ensembl
CA244254674 rs541904852	469	Q>H		No	ClinGen gnomAD
rs767679892 CA6815145	472	D>E		No	ClinGen ExAC TOPMed gnomAD
CA6815144 rs371044828	473	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1348562943 CA386907606	476	D>N		No	ClinGen gnomAD
rs1410197387 CA386907579	478	R>Q		No	ClinGen gnomAD
rs1380658814 CA386907494	486	R>C		No	ClinGen gnomAD
rs773623606 CA6815140	486	R>H		No	ClinGen ExAC TOPMed gnomAD
COSM935630 CA386907462 rs1450500022	488	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6815138 rs760154370	491	K>E		No	ClinGen ExAC gnomAD
rs868091108 CA244254629	493	P>H		No	ClinGen Ensembl
CA386907377 rs1430950269	495	G>S		No	ClinGen TOPMed gnomAD
CA386907367 rs1592983209	496	S>P		No	ClinGen Ensembl
CA386907357 rs1392634130	497	T>P		No	ClinGen gnomAD
CA6815136 rs374214088	498	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA386907344 rs745523634	498	L>P		No	ClinGen ExAC gnomAD
CA6815135 rs745523634	498	L>R		No	ClinGen ExAC gnomAD
rs944180272 CA244254615	499	G>W		No	ClinGen Ensembl
CA6815133 rs770868077	500	D>A		No	ClinGen ExAC gnomAD
rs770868077 CA386907323	500	D>G		No	ClinGen ExAC gnomAD
rs1182037691 CA386907327	500	D>H		No	ClinGen gnomAD
rs1158070376 CA386907282	503	N>H		No	ClinGen gnomAD
rs370872273 CA6815132	503	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1209972580 CA386907270	504	V>M		No	ClinGen gnomAD
CA244254603 rs966552234	505	Q>H		No	ClinGen TOPMed gnomAD
CA244254606 rs983025370	505	Q>P		No	ClinGen TOPMed gnomAD
rs756054154 CA6815131	506	F>L		No	ClinGen ExAC gnomAD
CA6815109 rs747059956	509	I>V		No	ClinGen ExAC gnomAD
rs758631242 CA6815107	511	I>M		No	ClinGen ExAC gnomAD
CA6815108 rs780302954	511	I>V		No	ClinGen ExAC TOPMed gnomAD
rs750817857 CA6815106	512	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1317969813 CA386906869	513	Q>E		No	ClinGen gnomAD
CA386906834 rs1592980591	516	K>N		No	ClinGen Ensembl
COSM177287 CA386906827 rs1219636809	517	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA386906823 rs1592980569	518	P>R		No	ClinGen Ensembl
rs1195550327 CA386906809	520	G>D		No	ClinGen gnomAD
rs757502839 CA6815104	521	R>H		No	ClinGen ExAC gnomAD
CA386906792 rs1316284932	523	D>A		No	ClinGen TOPMed
rs754414419 CA6815103	523	D>N		No	ClinGen ExAC gnomAD
CA6815101 rs759161079	526	P>L		No	ClinGen ExAC gnomAD
CA386906695 rs1489536468	532	N>I		No	ClinGen TOPMed
CA386906673 rs1324649798	534	N>S		No	ClinGen gnomAD
rs776589468 CA6815094	538	L>F		No	ClinGen ExAC gnomAD
CA6815093 rs768558258	541	I>V		No	ClinGen ExAC gnomAD
rs780101688 CA6815091	551	I>M		No	ClinGen ExAC gnomAD
CA6815092 rs747148096	551	I>V		No	ClinGen ExAC gnomAD
CA386905640 rs1485623498	559	F>L		No	ClinGen gnomAD
CA386905622 rs1592974898	561	D>A		No	ClinGen Ensembl
CA386905581 rs1592974888	567	Y>S		No	ClinGen Ensembl
rs774678651 CA6815069	568	G>A		No	ClinGen ExAC gnomAD
rs745892224 CA6815070	568	G>S		No	ClinGen ExAC TOPMed gnomAD
rs923086732 CA244251162	569	L>P		No	ClinGen Ensembl
rs368153115 CA244251158	571	A>T		No	ClinGen ESP TOPMed gnomAD
COSM935628 rs1412760885 CA386905556	572	V>M	large_intestine endometrium central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs781503185 CA6815063	581	G>S		No	ClinGen ExAC gnomAD
CA386905488 rs1592974778	582	L>P		No	ClinGen Ensembl
rs764997647 CA6815059	583	E>K		No	ClinGen ExAC gnomAD
CA386905476 rs1592974745	584	F>V		No	ClinGen Ensembl
rs1253013686 CA386905462	586	A>T		No	ClinGen gnomAD
CA6815054 rs775525409	593	Y>*		No	ClinGen ExAC
CA6815055 rs760410453	593	Y>C		No	ClinGen ExAC
rs763887405 CA6815056	593	Y>D		No	ClinGen ExAC gnomAD
rs1473800753 CA386905400	594	M>I		No	ClinGen TOPMed
rs1270263286 CA386905406	594	M>L		No	ClinGen gnomAD
CA386905405 rs1270263286	594	M>V		No	ClinGen gnomAD
rs41356652 CA6815053 RCV000972167	595	G>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1415569679 CA386905366	599	G>A		No	ClinGen TOPMed
rs1231111386 COSM3359563 CA386905357	601	R>C	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1288766873 CA386905341	603	Y>C		No	ClinGen gnomAD
rs748484122 CA6815046	606	N>D		No	ClinGen ExAC gnomAD
CA244251063 rs71653608	607	S>P		No	ClinGen gnomAD
CA6815045 rs781747122	608	R>C		No	ClinGen ExAC gnomAD
rs1055403935 CA244251059	608	R>H		No	ClinGen TOPMed
rs745449767 CA6815043	610	N>S		No	ClinGen ExAC gnomAD
rs1179385382 CA386905282	612	L>V		No	ClinGen TOPMed gnomAD
CA6815042 rs778289278	613	E>A		No	ClinGen ExAC gnomAD
CA386905278 COSM1259310 rs1469038962	613	E>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
CA386905253 rs1445018852	614	E>D		No	ClinGen gnomAD
CA6815027 rs368542192	615	V>L		No	ClinGen ESP ExAC gnomAD
rs374363198 CA6815026	616	A>G		No	ClinGen ESP ExAC gnomAD
rs1566049444 CA386905225	617	K>N		No	ClinGen Ensembl
CA386905228 rs1350043587	617	K>R		No	ClinGen gnomAD
rs79487279 CA6815025 RCV000887441	619	M>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6815024 rs780558156	620	N>D		No	ClinGen ExAC TOPMed gnomAD
CA244248945 rs899866948	623	M>T		No	ClinGen Ensembl
CA386905163 rs1362877892	623	M>V		No	ClinGen gnomAD
CA6815023 rs368042252	626	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA386905033 rs1381285035	634	A>V		No	ClinGen TOPMed
CA386905013 rs1592969865	636	V>G		No	ClinGen Ensembl
rs1291601821 CA386904960 COSM339591	641	A>T	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs780850305 CA6815000	648	S>G		No	ClinGen ExAC gnomAD
CA6814999 rs754763161	650	K>R		No	ClinGen ExAC gnomAD
rs746788225 CA6814998	653	I>V		No	ClinGen ExAC gnomAD
rs750319488 CA6814995	659	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1419589965 CA386902942	661	E>K		No	ClinGen gnomAD
CA386902941 rs1419589965	661	E>Q		No	ClinGen gnomAD
rs1252643280 CA386902857	667	M>V		No	ClinGen TOPMed gnomAD
rs757310877 CA386902773	671	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1592966823 CA386902778	671	Y>S		No	ClinGen Ensembl
CA6814992 rs754035678	672	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6814991 COSM2157588 rs764344401	672	R>H	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6814990 rs371526684	673	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs564854275 CA6814989	673	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs980577637 CA244247729	674	R>Q		No	ClinGen TOPMed gnomAD
CA6814987 rs760044680	674	R>W		No	ClinGen ExAC gnomAD
rs769211402 CA386902738	675	G>R		No	ClinGen ExAC gnomAD
CA6814985 rs769211402	675	G>R		No	ClinGen ExAC gnomAD
CA386902723 rs1326008073 COSM2157530	676	G>C	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
CA386902727 rs1326008073	676	G>S		No	ClinGen gnomAD
rs768333861 CA6814980 COSM467859	680	D>N	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs779998869 CA6814978	681	W>C		No	ClinGen ExAC gnomAD
rs1592966712 CA386902633	682	V>M		No	ClinGen Ensembl
CA386902602 rs1439010643	684	I>F		No	ClinGen gnomAD
CA6814976 rs745821777	685	V>M		No	ClinGen ExAC TOPMed gnomAD
CA6814975 rs778950738	688	M>T		No	ClinGen ExAC gnomAD
CA386902480 rs1205974157	693	T>I		No	ClinGen gnomAD
rs1592966676 CA386902490	693	T>P		No	ClinGen Ensembl
rs1566047706 CA386902448	697	H>Q		No	ClinGen Ensembl
rs1238881736 CA386902453	697	H>Y		No	ClinGen gnomAD
CA6814972 rs764277577	701	L>F		No	ClinGen ExAC TOPMed gnomAD
rs752854196 CA6814970	704	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs79673175 CA386902400	704	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs774872144 CA6814967	706	T>A		No	ClinGen ExAC gnomAD
CA386902391 rs774872144	706	T>P		No	ClinGen ExAC gnomAD
rs1592966614 CA386902355	711	Y>S		No	ClinGen Ensembl
rs752942079 CA6814952	713	P>S		No	ClinGen ExAC gnomAD
rs200091597 COSM1165348 CA6814951	718	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1371600135 CA386902278	720	V>A		No	ClinGen gnomAD
rs1309201391 CA386902266	722	K>E		No	ClinGen TOPMed
rs763519078 CA6814948	723	G>A		No	ClinGen ExAC TOPMed gnomAD
rs763519078 CA6814947	723	G>V		No	ClinGen ExAC TOPMed gnomAD
CA6814946 rs531345041	724	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1236916564 CA386902255	724	T>P		No	ClinGen TOPMed
RCV000972863 VAR_018950 CA6814945 rs9658403	725	N>D		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6814944 rs199519839	725	N>S		No	ClinGen ExAC gnomAD
rs771824896 CA6814942	726	G>R		No	ClinGen ExAC TOPMed gnomAD
CA244288766 rs977683409	727	T>N		No	ClinGen TOPMed
rs1555253361 CA386902220	730	K>E		No	ClinGen Ensembl
rs955232261 CA244288762	730	K>T		No	ClinGen TOPMed
CA386902215 rs1217656677	731	R>G		No	ClinGen gnomAD
CA386902213 rs1355786157	731	R>Q		No	ClinGen gnomAD
rs1217656677 CA386902214 COSM935624	731	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6814940 rs774188832	732	R>G		No	ClinGen ExAC gnomAD
rs1029861467 CA244288744	732	R>Q		No	ClinGen TOPMed gnomAD
rs2293054 CA386902195	734	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777525805 CA6814937	735	G>S		No	ClinGen ExAC gnomAD
rs769895767 CA6814936	741	E>K		No	ClinGen ExAC gnomAD
rs747275403 CA6814912	742	A>V		No	ClinGen ExAC gnomAD
rs1284708666 CA386902128	743	V>F		No	ClinGen gnomAD
CA386902103 rs1245980199	746	S>L		No	ClinGen TOPMed
rs201091025 CA6814907	750	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs746192504 CA6814909	750	M>L		No	ClinGen ExAC gnomAD
rs779617767 CA6814908	750	M>T		No	ClinGen ExAC
CA244286246 rs965797429	753	A>V		No	ClinGen TOPMed
rs767151779 CA6814905	754	M>L		No	ClinGen ExAC gnomAD
CA6814904 rs754399615	754	M>T		No	ClinGen ExAC gnomAD
CA386902027 rs1592960882	758	V>G		No	ClinGen Ensembl
CA6814902 rs765920162	759	K>R		No	ClinGen ExAC gnomAD
rs1455815138 CA386902004	762	I>V		No	ClinGen TOPMed
rs1454305034 CA386901996	763	L>F		No	ClinGen TOPMed gnomAD
rs761745076 CA6814898	768	T>I		No	ClinGen ExAC TOPMed gnomAD
rs768752535 CA6814896	770	K>T		No	ClinGen ExAC gnomAD
COSM110337 CA6814895 rs150227193	771	S>L	large_intestine endometrium skin breast [Cosmic]	No	ClinGen cosmic curated ExAC
rs537783189 CA244286104	772	Q>R		No	ClinGen Ensembl
CA386901929 rs1395324374	773	A>V		No	ClinGen Ensembl
CA244286090 rs748112975	776	K>E		No	ClinGen Ensembl
rs377522994 CA6814892	778	L>W		No	ClinGen ESP ExAC gnomAD
CA6814891 rs779421792	780	E>D		No	ClinGen ExAC TOPMed gnomAD
CA6814890 rs757635514	783	K>R		No	ClinGen ExAC TOPMed gnomAD
CA386901851 rs749837589	784	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA386901852 rs749837589	784	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs778386606 CA6814888	785	A>T		No	ClinGen ExAC TOPMed
rs1272263445 CA386901825	788	A>G		No	ClinGen gnomAD
rs754560223 CA6814887	789	K>T		No	ClinGen ExAC gnomAD
rs1157581266 CA386901792	791	M>I		No	ClinGen TOPMed
rs1234690459 CA386901789	792	S>T		No	ClinGen gnomAD
CA6814861 rs753615929	793	M>V		No	ClinGen ExAC TOPMed gnomAD
CA386901775 rs1197916388	794	E>K		No	ClinGen gnomAD
CA244284616 rs1053721904	795	E>K		No	ClinGen TOPMed gnomAD
rs934830317 CA244284607	798	I>T		No	ClinGen TOPMed gnomAD
CA6814860 rs764156407	799	V>A		No	ClinGen ExAC
CA386901731 rs1320324282	800	H>Y		No	ClinGen gnomAD
CA6814859 rs760530493	804	E>A		No	ClinGen ExAC gnomAD
rs1355366117 CA386901696	805	T>A		No	ClinGen TOPMed
CA386901684 rs1449709200	807	V>A		No	ClinGen gnomAD
rs752620610 CA6814858	807	V>F		No	ClinGen ExAC gnomAD
CA6814857 rs767514158	809	V>A		No	ClinGen ExAC gnomAD
CA6814855 rs774757248	816	N>S		No	ClinGen ExAC gnomAD
rs1459216037 CA386901611	818	D>E		No	ClinGen gnomAD
rs1411020262 CA386901613	818	D>V		No	ClinGen TOPMed
rs1163923384 CA386901594	821	E>A		No	ClinGen gnomAD
CA244284509 rs912682291	822	N>T		No	ClinGen TOPMed
rs763272264 CA386901541	826	F>L		No	ClinGen ExAC TOPMed gnomAD
CA6814835 rs544602522	827	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200144876 CA6814833	828	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6814832 rs777052204	831	M>T		No	ClinGen ExAC TOPMed gnomAD
CA386901490 rs1257293385	833	M>I		No	ClinGen TOPMed
CA386901497 rs1352265852	833	M>V		No	ClinGen gnomAD
CA6814828 rs77828469	837	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6814829 rs77828469	837	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1300306541 CA386901444	840	Q>H		No	ClinGen gnomAD
CA6814827 rs767426622	843	R>G		No	ClinGen ExAC TOPMed gnomAD
rs781555409 CA6814757	845	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1478191358 CA386901173	845	S>R		No	ClinGen gnomAD
rs1592953996 CA386901151	848	V>G		No	ClinGen Ensembl
rs755249043 CA6814756	848	V>L		No	ClinGen ExAC gnomAD
CA386901148 rs1196540880	849	R>Q		No	ClinGen gnomAD
CA386901136 rs1566041216	851	N>D		No	ClinGen Ensembl
CA6814755 rs752140341	851	N>S		No	ClinGen ExAC gnomAD
CA386901127 rs1286604625	852	S>N		No	ClinGen gnomAD
rs1351531249 CA386901120	853	V>F		No	ClinGen gnomAD
rs960122802 CA244278320	854	S>P		No	ClinGen TOPMed gnomAD
rs895769537 CA244278306	856	Y>C		No	ClinGen TOPMed
CA6814752 rs753392044	856	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs895769537 CA386901103	856	Y>S		No	ClinGen TOPMed
CA6814751 rs763630164	857	S>F		No	ClinGen ExAC gnomAD
rs1273407932 CA386901098	857	S>P		No	ClinGen gnomAD
rs1053020631 COSM935620 CA244278279	863	S>P	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
VAR_018951 RCV000971295 CA6814748 rs9658445	864	G>D		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6814746 rs200664091	865	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6814745 rs770762852	866	G>R		No	ClinGen ExAC TOPMed gnomAD
rs749440184 CA6814744	867	P>S		No	ClinGen ExAC gnomAD
rs769811727 CA6814742	868	D>N		No	ClinGen ExAC TOPMed gnomAD
RCV000894843 CA6814741 rs142354668	869	L>P		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA6814739 rs755411510	874	E>D		No	ClinGen ExAC gnomAD
CA386900967 rs1428060566	877	G>R		No	ClinGen TOPMed
CA6814738 rs570378128	881	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA386900927 rs1218876779	883	R>K		No	ClinGen gnomAD
rs1411702476 CA386900896	886	V>L		No	ClinGen gnomAD
rs1482252432 CA386900887	887	F>S		No	ClinGen gnomAD
CA6814710 rs754593517	890	G>S		No	ClinGen ExAC gnomAD
rs369089315 CA6814709	891	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1457555272 CA386900860	892	R>*		No	ClinGen TOPMed gnomAD
rs1205112398 CA386900859	892	R>Q		No	ClinGen TOPMed
rs1444451786 CA386900830	896	H>Q		No	ClinGen TOPMed
CA6814706 rs201533403	899	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1438062448 CA386900799 COSM228591	901	G>R	skin stomach [Cosmic]	No	ClinGen cosmic curated gnomAD
rs776575538 CA6814703	903	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6814702 rs768720508	906	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1372338670 CA386900741	910	E>K		No	ClinGen gnomAD
rs1293951722 CA386900729	912	G>R		No	ClinGen gnomAD
CA386900723 rs1459361290	913	G>R		No	ClinGen gnomAD
CA6814696 rs771558788	922	G>A		No	ClinGen ExAC gnomAD
CA386900645 rs1418790480	924	E>K		No	ClinGen gnomAD
rs1357897440 CA608056366	925	L>*		No	ClinGen gnomAD
rs749738314 CA6814695	925	L>H		No	ClinGen ExAC gnomAD
CA386900601 rs1381579506	930	E>Q		No	ClinGen TOPMed
CA386900589 rs1447116083	931	A>V		No	ClinGen TOPMed
rs754462480 CA6814693	934	T>A		No	ClinGen ExAC gnomAD
CA386900569 rs1265318198	934	T>I		No	ClinGen gnomAD
CA244272366 rs868117475	936	A>S		No	ClinGen Ensembl
CA386900551 rs1227730834	937	K>R		No	ClinGen gnomAD
rs1348349522 CA386900542	938	K>R		No	ClinGen gnomAD
CA6814692 rs751202682	939	V>I		No	ClinGen ExAC gnomAD
rs779654516 CA6814691	941	K>E		No	ClinGen ExAC gnomAD
rs199681806 CA6814665	942	A>E		No	ClinGen ExAC TOPMed gnomAD
rs199681806 CA386900502	942	A>V		No	ClinGen ExAC TOPMed gnomAD
rs759853470 CA6814664	952	D>N		No	ClinGen ExAC TOPMed gnomAD
rs759853470 CA386900437	952	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs774667517 CA6814663	955	I>T		No	ClinGen ExAC gnomAD
CA386900380 rs1445860939	960	N>H		No	ClinGen gnomAD
rs367889506 CA6814662	960	N>S		No	ClinGen ESP ExAC gnomAD
CA386900368 rs1245216634	961	S>F		No	ClinGen TOPMed
CA6814661 rs763345358	963	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1201819157 CA386900360	963	I>V		No	ClinGen gnomAD
CA6814660 rs773645791	966	D>V		No	ClinGen ExAC TOPMed gnomAD
CA386900330 COSM3811157 rs1219055924	967	R>C	breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs770325706 CA6814659	967	R>H		No	ClinGen ExAC gnomAD
CA386900325 rs1276158586	968	S>R		No	ClinGen gnomAD
CA244268118 rs866326830	969	W>*		No	ClinGen Ensembl
rs746570568 CA6814658	970	K>M		No	ClinGen ExAC gnomAD
CA386900290 rs774988705	972	N>K		No	ClinGen ExAC TOPMed gnomAD
rs771520384 CA6814656	975	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6814655 COSM546827 rs561693400	975	R>H	lung central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA386900271 rs561693400	975	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6814654 rs778503297	976	L>F		No	ClinGen ExAC gnomAD
CA386900254 rs1347824582	978	F>S		No	ClinGen TOPMed
rs868620914 CA244268087	980	A>V		No	ClinGen Ensembl
rs749094921 CA6814652	981	E>K		No	ClinGen ExAC gnomAD
CA386900232 rs1473452711	982	A>T		No	ClinGen gnomAD
CA386900224 rs1320700177	983	P>A		No	ClinGen TOPMed
rs1019950422 CA244268035	986	T>I		No	ClinGen TOPMed
rs374309059 CA6814650	987	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs748128819 CA6814631	991	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1226480237 CA386900143	994	K>Q		No	ClinGen TOPMed
CA386900132 rs1242572606	995	K>R		No	ClinGen gnomAD
rs1265663158 CA386900126	996	R>Q		No	ClinGen TOPMed
COSM935616 rs370868180 CA6814628	1001	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA6814629 rs755159260	1001	R>W		No	ClinGen ExAC TOPMed gnomAD
rs780212078 CA6814627	1004	S>G		No	ClinGen ExAC TOPMed gnomAD
CA6814626 rs758653629	1005	R>C		No	ClinGen ExAC gnomAD
CA6814625 rs555358437	1005	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA386900077 rs758653629	1005	R>S		No	ClinGen ExAC gnomAD
CA386900030 rs1460017986	1011	P>H		No	ClinGen TOPMed
rs1158776156 CA386900020	1013	S>P		No	ClinGen gnomAD
CA386899994 rs565699307 COSM262435	1015	R>W	lung large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA386899966 rs376014944	1019	F>L		No	ClinGen ExAC TOPMed gnomAD
CA6814613 rs747934603	1019	F>L		No	ClinGen ExAC gnomAD
rs775247899 CA6814610	1020	V>L		No	ClinGen ExAC TOPMed gnomAD
CA6814611 rs775247899	1020	V>M		No	ClinGen ExAC TOPMed gnomAD
COSM1359114 CA6814609 rs375069851	1021	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
COSM3384068 rs758367753 CA6814608	1021	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1156417629 CA386899944	1023	H>Q		No	ClinGen TOPMed
CA386899938 rs1432951159	1024	T>S		No	ClinGen TOPMed gnomAD
CA386899932 rs1211066641	1025	N>S		No	ClinGen TOPMed gnomAD
rs1211066641 CA386899931	1025	N>T		No	ClinGen TOPMed gnomAD
CA6814603 rs764376207	1026	G>E		No	ClinGen ExAC TOPMed gnomAD
CA244260214 rs887921131	1026	G>R		No	ClinGen TOPMed gnomAD
rs756625748 CA6814600	1027	S>I		No	ClinGen ExAC TOPMed
rs756625748 CA6814602	1027	S>N		No	ClinGen ExAC TOPMed
rs765947043 CA6814598	1031	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA386899893 rs765947043	1031	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA6814597 rs762340873	1032	Y>C		No	ClinGen ExAC gnomAD
rs1359250387 CA386899877	1033	Q>H		No	ClinGen gnomAD
rs772967143 CA6814596	1035	G>E		No	ClinGen ExAC gnomAD
CA386899855 rs1448273341	1037	H>D		No	ClinGen gnomAD
CA386899841 rs1407901241	1039	G>C		No	ClinGen gnomAD
rs1283748732 CA386899840	1039	G>D		No	ClinGen TOPMed
rs764970966 CA6814594	1040	V>I		No	ClinGen ExAC gnomAD
CA386899822 rs1313036176	1042	P>S		No	ClinGen TOPMed
rs776576443 CA6814592	1045	H>Q		No	ClinGen ExAC gnomAD
rs768516731 CA6814591	1046	E>K		No	ClinGen ExAC TOPMed gnomAD
CA386899784 rs1278330955	1047	D>E		No	ClinGen TOPMed
CA6814590 rs746992969	1048	L>I		No	ClinGen ExAC gnomAD
rs775257502 CA6814589	1049	V>A		No	ClinGen ExAC gnomAD
CA386899776 rs1178704994	1049	V>M		No	ClinGen gnomAD
CA244260064 rs924007999	1054	E>K		No	ClinGen gnomAD
CA386899746 rs924007999	1054	E>Q		No	ClinGen gnomAD
CA6814586 rs745334107	1055	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1471000694 CA386899738	1055	R>W		No	ClinGen TOPMed
CA6814585 rs201526014	1057	E>G		No	ClinGen ExAC gnomAD
rs778131502 CA6814583	1058	D>E		No	ClinGen ExAC TOPMed gnomAD
rs749454524 CA6814584	1058	D>G		No	ClinGen ExAC
rs1271646871 CA386899717	1059	A>T		No	ClinGen gnomAD
rs56266548 CA6814582	1059	A>V		No	ClinGen ExAC TOPMed gnomAD
CA386899711 rs1373163461	1060	P>A		No	ClinGen TOPMed
rs549571251 CA6814580	1060	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs757986064 CA6814579	1061	P>L		No	ClinGen ExAC gnomAD
rs9658482 CA244260017 VAR_018952	1064	Q>R		No	ClinGen UniProt Ensembl dbSNP
rs764777567 CA6814577	1065	M>I		No	ClinGen ExAC gnomAD
rs1235724887 CA386899678	1065	M>T		No	ClinGen TOPMed gnomAD
CA6814578 rs371188803	1065	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1592936414 CA386899670	1066	V>G		No	ClinGen Ensembl
rs375160978 CA6814576	1066	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1348375266 CA386899663	1067	K>N		No	ClinGen gnomAD
CA386899657 rs1353813600	1068	V>A		No	ClinGen gnomAD
CA6814571 rs372427472 COSM1259306	1074	R>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA386899621 rs1163170281	1074	R>W		No	ClinGen TOPMed gnomAD
CA386899602 rs770948047	1076	T>K		No	ClinGen ExAC TOPMed gnomAD
rs770948047 CA6814568	1076	T>M		No	ClinGen ExAC TOPMed gnomAD
rs774230846 CA6814551	1079	G>D		No	ClinGen ExAC gnomAD
CA386899110 rs1592934019	1086	D>G		No	ClinGen Ensembl
rs763000155 CA6814549	1087	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6814548 rs773481320 COSM3811156	1089	R>C	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs769905102 CA6814547 COSM1359112	1089	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA386899086 rs1225246863	1090	L>F		No	ClinGen gnomAD
CA244258229 rs755981500	1091	P>A		No	ClinGen TOPMed
rs375371439 CA6814545	1091	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6814543 rs747554137	1095	I>V		No	ClinGen ExAC TOPMed gnomAD
rs370568363 CA6814542	1098	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6814539 rs777267814	1101	Y>C		No	ClinGen ExAC gnomAD
rs1195048665 CA386898997	1103	L>P		No	ClinGen gnomAD
CA386898990 rs1385655035	1104	D>V		No	ClinGen TOPMed
CA386898979 rs1428522323	1106	T>A		No	ClinGen gnomAD
CA386898980 rs1428522323	1106	T>P		No	ClinGen gnomAD
rs201943901 CA6814536	1107	T>M		No	ClinGen ExAC TOPMed gnomAD
CA386898956 rs1341454590	1110	T>A		No	ClinGen TOPMed
rs562794276 CA6814532	1110	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1282498973 CA386898924	1115	Q>R		No	ClinGen gnomAD
rs377455498 CA6814530	1119	S>F		No	ClinGen ESP ExAC gnomAD
CA6814528 rs776877302	1122	T>A		No	ClinGen ExAC gnomAD
rs372660293 COSM166699 CA6814526	1124	E>K	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1268126456 CA386898861	1125	K>Q		No	ClinGen TOPMed
rs772708191 CA6814524	1129	R>C		No	ClinGen ExAC gnomAD
CA6814523 rs78422671	1129	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772708191 CA386898829	1129	R>S		No	ClinGen ExAC gnomAD
rs767409208 CA244258114	1132	V>L		No	ClinGen Ensembl
CA244245422 rs866991166	1136	G>S		No	ClinGen Ensembl
rs780774426 CA6814501	1142	E>K		No	ClinGen ExAC gnomAD
rs1426211397 CA386898067	1147	K>E		No	ClinGen Ensembl
CA386898053 rs1398404840	1148	N>K		No	ClinGen Ensembl
rs966746976 CA244245394	1150	T>S		No	ClinGen Ensembl
CA6814496 rs758152332 COSM1492808	1152	V>M	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1172711780 CA386898017	1154	V>A		No	ClinGen TOPMed
rs1566028128 CA386898021	1154	V>M		No	ClinGen Ensembl
CA6814493 rs563920841	1159	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1384183771 CA386897929	1161	I>V		No	ClinGen TOPMed gnomAD
rs976559135 CA244245382	1164	P>L		No	ClinGen TOPMed gnomAD
CA6814491 rs753952983	1164	P>S		No	ClinGen ExAC gnomAD
rs1592929974 CA386897853	1166	T>P		No	ClinGen Ensembl
rs760996801 CA6814489	1168	L>F		No	ClinGen ExAC
CA244245350 rs1031426891	1168	L>P		No	ClinGen TOPMed gnomAD
CA6814488 rs372289883	1170	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA386897802 rs1592929954	1170	T>P		No	ClinGen Ensembl
CA244245342 rs866408413	1171	Q>H		No	ClinGen Ensembl
rs71653609 CA244245336	1173	S>P		No	ClinGen Ensembl
CA244245319 rs77074921	1178	R>C		No	ClinGen TOPMed
rs1490215839 CA386897661	1178	R>H		No	ClinGen TOPMed gnomAD
CA6814485 rs774777379	1184	S>C		No	ClinGen ExAC gnomAD
CA386897534 rs1226418509	1185	S>Y		No	ClinGen TOPMed
CA6814483 rs376645694	1188	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA386897477 rs1347892097	1188	M>T		No	ClinGen gnomAD
CA244245301 rs376645694	1188	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6814481 rs768108334	1193	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1318555042 CA386897353	1194	H>L		No	ClinGen gnomAD
CA386897358 rs1318555042	1194	H>P		No	ClinGen gnomAD
CA6814479 rs367781841	1200	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA244245283 rs1056862510 COSM3954246	1201	S>F	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
RCV000190549 rs1060499530 CA16609695	1202	Y>*		No	ClinGen ClinVar Ensembl dbSNP
CA6814478 rs771907015	1203	R>C		No	ClinGen ExAC TOPMed gnomAD
CA386897189 rs771907015	1203	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6814477 rs571737466 COSM246069	1203	R>H	lung prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA386897191 rs771907015	1203	R>S		No	ClinGen ExAC TOPMed gnomAD
rs778501823 CA6814476	1204	T>S		No	ClinGen ExAC gnomAD
rs753666274 CA6814474	1205	R>Q		No	ClinGen ExAC gnomAD
CA6814452 rs755241777	1207	G>E		No	ClinGen ExAC TOPMed gnomAD
CA386896888 rs1354984642	1207	G>R		No	ClinGen gnomAD
CA386896794 rs1408224706	1210	P>S		No	ClinGen gnomAD
CA386896769 rs1418971412	1211	I>N		No	ClinGen gnomAD
CA6814449 rs763199942	1213	H>P		No	ClinGen ExAC gnomAD
rs766800474 CA6814450	1213	H>Y		No	ClinGen ExAC gnomAD
CA6814447 rs765724703	1214	G>S		No	ClinGen ExAC TOPMed gnomAD
CA386896621 rs1203051931	1215	V>I		No	ClinGen gnomAD
rs1047117910 CA244244899	1218	S>F		No	ClinGen Ensembl
CA6814443 rs759262514	1219	W>C		No	ClinGen ExAC gnomAD
CA6814441 rs770808057	1222	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6814442 rs773842176 COSM3384067	1222	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA244244886 rs931151663	1223	I>M		No	ClinGen Ensembl
rs919755665 CA244244881	1224	Q>H		No	ClinGen TOPMed gnomAD
CA6814440 rs749023159	1224	Q>R		No	ClinGen ExAC gnomAD
CA244244879 rs368758207	1225	A>T		No	ClinGen Ensembl
CA6814437 rs781446114	1226	D>E		No	ClinGen ExAC TOPMed gnomAD
CA6814438 rs769859370	1226	D>G		No	ClinGen ExAC gnomAD
CA6814439 rs374280350	1226	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA6814434 rs371026538	1227	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs754974896 CA6814435	1227	E>K		No	ClinGen ExAC gnomAD
CA6814432 rs758858270	1230	P>L		No	ClinGen ExAC gnomAD
CA386896187 rs1250393156	1231	C>S		No	ClinGen gnomAD
rs757780284 CA386896146	1233	V>L		No	ClinGen ExAC TOPMed gnomAD
COSM1259308 CA6814429 rs757780284	1233	V>M	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1220452269 CA386896112	1234	R>S		No	ClinGen gnomAD
CA386896099 rs1317293505	1235	G>E		No	ClinGen gnomAD
CA386894823 rs1310060472	1237	P>T		No	ClinGen gnomAD
rs1364284568 CA386894743	1239	F>S		No	ClinGen gnomAD
CA386894713 rs1456980788	1240	H>Q		No	ClinGen gnomAD
rs1287362879 CA386894727	1240	H>Y		No	ClinGen gnomAD
rs754582579 CA386894672	1243	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6814406 rs765858548 COSM3359562	1243	R>L	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs765858548 CA6814407	1243	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs754582579 CA6814408	1243	R>W		No	ClinGen ExAC TOPMed gnomAD
CA386894638 rs369249262	1245	P>A		No	ClinGen ESP TOPMed gnomAD
CA386894625 rs1566026535	1245	P>L		No	ClinGen Ensembl
rs369249262 CA244244031	1245	P>S		No	ClinGen ESP TOPMed gnomAD
CA244244025 rs1054953958	1247	V>A		No	ClinGen TOPMed
CA244244029 rs890087432	1247	V>I		No	ClinGen Ensembl
CA6814404 rs750058105	1250	I>V		No	ClinGen ExAC gnomAD
CA6814402 rs761681327	1252	V>I		No	ClinGen ExAC TOPMed gnomAD
rs776692730 CA6814401	1256	T>A		No	ClinGen ExAC TOPMed gnomAD
rs867735029 CA244244004	1257	G>D		No	ClinGen Ensembl
CA386894368 rs1243598920	1259	A>T		No	ClinGen TOPMed gnomAD
rs1330414336 CA386894346	1260	P>S		No	ClinGen TOPMed
CA6814399 COSM302766 rs760598926	1262	R>Q	lung urinary_tract central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA386894201 rs1371343739	1267	Q>E		No	ClinGen TOPMed
rs1228191948 CA386894165	1268	R>Q		No	ClinGen gnomAD
CA6814396 rs746126441	1272	I>S		No	ClinGen ExAC gnomAD
CA6814394 rs771340836	1274	H>N		No	ClinGen ExAC TOPMed gnomAD
rs771340836 CA244243963	1274	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs749610875 CA6814393	1275	K>E		No	ClinGen ExAC gnomAD
rs991294138 CA244242675	1277	M>I		No	ClinGen TOPMed gnomAD
rs991294138 CA386894010	1277	M>I		No	ClinGen TOPMed gnomAD
CA386893985 rs1566025175	1281	P>S		No	ClinGen Ensembl
CA386893970 rs1358671681	1283	V>D		No	ClinGen TOPMed
CA6814366 rs753485464	1283	V>I		No	ClinGen ExAC gnomAD
CA244242650 rs199524143	1289	R>Q		No	ClinGen TOPMed gnomAD
rs1403290188 CA386893920	1291	S>P		No	ClinGen gnomAD
rs1158884387 CA386893905	1293	I>K		No	ClinGen gnomAD
rs369884374 CA6814363	1293	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1592925150 CA386893870	1298	R>G		No	ClinGen Ensembl
rs1035260259 CA244242629	1302	L>P		No	ClinGen Ensembl
CA386893819 rs1271224013	1305	K>R		No	ClinGen gnomAD
CA386893806 rs1196984885	1307	K>E		No	ClinGen TOPMed gnomAD
rs1451297869 CA386893803	1307	K>R		No	ClinGen TOPMed gnomAD
rs1451297869 CA386893804	1307	K>T		No	ClinGen TOPMed gnomAD
rs546533651 CA6814361	1309	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774427200 CA6814360	1312	E>D		No	ClinGen ExAC gnomAD
CA386893755 rs766396507	1314	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs867121912 CA244242619	1314	Y>C		No	ClinGen Ensembl
rs552608101 CA244242610 COSM124794	1315	T>M	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA386893728 rs1330112610 COSM1259305	1319	R>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6814357 rs773372298	1319	R>W		No	ClinGen ExAC gnomAD
rs770149553 CA6814356	1321	P>S		No	ClinGen ExAC gnomAD
CA244241212 rs922613102	1331	I>T		No	ClinGen TOPMed gnomAD
rs769332333 CA6814336	1331	I>V		No	ClinGen ExAC TOPMed gnomAD
rs561122952 CA6814334	1337	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs561122952 CA6814333 COSM2173483	1337	A>V	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs777356915 CA6814331	1338	E>D		No	ClinGen ExAC TOPMed gnomAD
CA386892792 rs1592922566	1339	S>A		No	ClinGen Ensembl
CA386892767 rs1300993270	1340	V>A		No	ClinGen gnomAD
rs76104785 CA6814330	1340	V>M		No	ClinGen ExAC gnomAD
CA386892739 COSM1511019 rs1447284452	1342	R>*	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs374511365 CA386892734	1342	R>L		No	ClinGen ESP TOPMed gnomAD
rs374511365 CA386892736	1342	R>P		No	ClinGen ESP TOPMed gnomAD
rs374511365 CA244241192	1342	R>Q		No	ClinGen ESP TOPMed gnomAD
CA6814329 COSM3670117 rs747706095	1343	A>V	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA386892649 rs1453267019	1347	Q>E		No	ClinGen TOPMed
CA6814328 rs781077618	1348	G>E		No	ClinGen ExAC TOPMed gnomAD
CA386892630 rs1370120249	1348	G>R		No	ClinGen gnomAD
rs1412167134 CA386892608	1349	G>A		No	ClinGen gnomAD
rs1470828225 CA386892588	1350	H>R		No	ClinGen gnomAD
CA6814326 rs377188191	1351	I>V		No	ClinGen ESP ExAC gnomAD
CA6814324 rs74427117	1353	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA386892450 rs1310358190	1357	V>I		No	ClinGen gnomAD
CA386892400 rs1373919219	1360	A>G		No	ClinGen TOPMed gnomAD
rs761925815 CA6814321	1360	A>S		No	ClinGen ExAC TOPMed gnomAD
CA386892399 rs1373919219	1360	A>V		No	ClinGen TOPMed gnomAD
COSM88614 rs754007407 CA6814320	1362	D>N	ovary [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs370228558 CA6814319	1365	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1350017827 CA386892298	1367	I>M		No	ClinGen gnomAD
CA6814318 rs761280701	1368	Q>H		No	ClinGen ExAC gnomAD
CA386892288 rs761280701	1368	Q>H		No	ClinGen ExAC gnomAD
rs772482052 COSM935609 CA6814317	1369	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs759876695 CA6814315	1369	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6814316 rs772482052	1369	R>S		No	ClinGen ExAC gnomAD
CA6814314 rs544938766	1370	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs747616702 CA6814312	1371	M>I		No	ClinGen ExAC gnomAD
rs769372779 CA6814313	1371	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1180666246 CA386892236	1372	T>I		No	ClinGen gnomAD
CA6814311 rs780701742	1373	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA386892233 rs780701742	1373	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1250511479 CA386892193	1375	G>A		No	ClinGen gnomAD
CA386892175 rs1263347932	1376	K>N		No	ClinGen TOPMed gnomAD
rs768521456 CA6814310	1376	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1220474468 CA386892174	1377	L>I		No	ClinGen gnomAD
rs746952051 CA6814309	1378	S>L		No	ClinGen ExAC gnomAD
CA244241067 rs1045377073	1379	A>V		No	ClinGen gnomAD
CA386892136 rs1226571725	1381	D>N		No	ClinGen TOPMed gnomAD
CA244241059 rs868213034	1382	A>T		No	ClinGen TOPMed gnomAD
CA6814302 rs767078735	1383	G>A		No	ClinGen ExAC TOPMed gnomAD
CA386892122 rs757580443	1383	G>C		No	ClinGen ExAC TOPMed gnomAD
rs767078735 CA6814303	1383	G>D		No	ClinGen ExAC TOPMed gnomAD
rs757580443 CA6814304	1383	G>S		No	ClinGen ExAC TOPMed gnomAD
rs753236188 CA6814300	1384	V>I		No	ClinGen ExAC TOPMed gnomAD
CA6814299 rs767960370	1385	F>C		No	ClinGen ExAC TOPMed gnomAD
rs767960370 CA386892105	1385	F>S		No	ClinGen ExAC TOPMed gnomAD
CA6814298 rs759914456	1387	S>C		No	ClinGen ExAC gnomAD
rs774609812 CA386892069	1388	R>L		No	ClinGen ExAC TOPMed gnomAD
rs774609812 CA6814297	1388	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1719685 rs1368941972 CA386892074	1388	R>W	NS [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA6814282 rs752761099	1391	D>G		No	ClinGen ExAC gnomAD
rs768029250 CA6814281	1393	N>S		No	ClinGen ExAC gnomAD
rs751893456 CA6814279	1394	R>*		No	ClinGen ExAC gnomAD
rs376113705 CA6814278	1394	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1482314684 CA386891826	1396	H>Y		No	ClinGen gnomAD
rs1205456457 CA386891786	1398	D>H		No	ClinGen gnomAD
CA386891691 rs1344522099	1403	T>I		No	ClinGen TOPMed gnomAD
rs1344522099 CA386891686	1403	T>N		No	ClinGen TOPMed gnomAD
rs763373196 CA6814277	1405	R>*		No	ClinGen ExAC gnomAD
rs1470536078 COSM1359107 CA386891665	1405	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA386891645 rs1384072068	1406	T>M		No	ClinGen TOPMed gnomAD
rs1042913420 CA244239834	1408	E>K		No	ClinGen Ensembl
rs943168772 CA244239827	1411	N>S		No	ClinGen TOPMed gnomAD
CA386891537 rs1157753654	1412	R>C		No	ClinGen TOPMed
rs910499546 CA244239823	1415	S>T		No	ClinGen Ensembl
CA386891462 rs1592920162	1416	E>A		No	ClinGen Ensembl
rs745802274 CA6814271	1418	I>V		No	ClinGen ExAC gnomAD
rs1448627745 CA386891379	1421	I>T		No	ClinGen TOPMed gnomAD
RCV000905421 CA6814270 rs201476356	1422	E>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs770839346 CA6814269	1423	E>*		No	ClinGen ExAC gnomAD
CA386891341 rs1422032482	1423	E>D		No	ClinGen TOPMed gnomAD
CA6814268 rs749147277 COSM3376133	1424	S>C	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs946731514 CA244239799	1428	T>N		No	ClinGen TOPMed
CA386891227 rs1205905863	1428	T>S		No	ClinGen gnomAD
CA386891214 rs1272739323	1429	D>N		No	ClinGen gnomAD
rs773164536 CA6814248	1431	V>I		No	ClinGen ExAC gnomAD
rs1158473324 CA386890363	1433	S>N		No	ClinGen gnomAD

No associated diseases with P29475

18 regional properties for P29475

Type	Name	Position	InterPro Accession
domain	Flavodoxin-like	761 - 774	IPR001094-1
domain	Flavodoxin-like	808 - 819	IPR001094-2
domain	Flavodoxin-like	881 - 891	IPR001094-3
domain	Flavodoxin-like	905 - 924	IPR001094-4
domain	Oxidoreductase FAD/NAD(P)-binding	1251 - 1363	IPR001433
domain	PDZ domain	17 - 100	IPR001478
domain	Flavoprotein pyridine nucleotide cytochrome reductase	1032 - 1042	IPR001709-1
domain	Flavoprotein pyridine nucleotide cytochrome reductase	1178 - 1185	IPR001709-2
domain	Flavoprotein pyridine nucleotide cytochrome reductase	1214 - 1223	IPR001709-3
domain	Flavoprotein pyridine nucleotide cytochrome reductase	1250 - 1269	IPR001709-4
domain	Flavoprotein pyridine nucleotide cytochrome reductase	1280 - 1289	IPR001709-5
domain	Flavoprotein pyridine nucleotide cytochrome reductase	1293 - 1304	IPR001709-6
domain	Flavoprotein pyridine nucleotide cytochrome reductase	1325 - 1341	IPR001709-7
domain	Flavoprotein pyridine nucleotide cytochrome reductase	1350 - 1358	IPR001709-8
domain	Sulfite reductase [NADPH] flavoprotein alpha-component-like, FAD-binding	991 - 1219	IPR003097
domain	Nitric oxide synthase, N-terminal	357 - 717	IPR004030
domain	Flavodoxin/nitric oxide synthase	760 - 940	IPR008254
domain	FAD-binding domain, ferredoxin reductase-type	995 - 1242	IPR017927

Functions

		Description
EC Number	1.14.13.39	With NADH or NADPH as one donor, and incorporation of one atom of oxygen
Subcellular Localization	Cell membrane, sarcolemma ; Peripheral membrane protein Cell projection, dendritic spine	In skeletal muscle, it is localized beneath the sarcolemma of fast-twitch muscle fiber by associating with the dystrophin glycoprotein complex (By similarity) In neurons, enriched in dendritic spines (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

18 GO annotations of cellular component

Name	Definition
cell periphery	The part of a cell encompassing the cell cortex, the plasma membrane, and any external encapsulating structures.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
dendritic spine	A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity.
membrane raft	Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
photoreceptor inner segment	The inner segment of a vertebrate photoreceptor containing mitochondria, ribosomes and membranes where opsin molecules are assembled and passed to be part of the outer segment discs.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynaptic density	An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.
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.
sarcolemma	The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers.
sarcoplasmic reticulum	A fine reticular network of membrane-limited elements that pervades the sarcoplasm of a muscle cell; continuous over large portions of the cell and with the nuclear envelope; that part of the endoplasmic reticulum specialized for calcium release, uptake and storage.
synapse	The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.
vesicle membrane	The lipid bilayer surrounding any membrane-bounded vesicle in the cell.

14 GO annotations of molecular function

Name	Definition
arginine binding	Binding to 2-amino-5-(carbamimidamido)pentanoic acid.
cadmium ion binding	Binding to a cadmium ion (Cd).
calcium-dependent protein binding	Binding to a protein or protein complex in the presence of calcium.
calmodulin binding	Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
flavin adenine dinucleotide binding	Binding to FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes, in either the oxidized form, FAD, or the reduced form, FADH2.
FMN binding	Binding to flavin mono nucleotide. Flavin mono nucleotide (FMN) is the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes.
heme binding	Binding to a heme, a compound composed of iron complexed in a porphyrin (tetrapyrrole) ring.
NADP binding	Binding to nicotinamide-adenine dinucleotide phosphate, a coenzyme involved in many redox and biosynthetic reactions; binding may be to either the oxidized form, NADP+, or the reduced form, NADPH.
nitric-oxide synthase activity	Catalysis of the reaction: L-arginine + n NADPH + n H+ + m O2 = citrulline + nitric oxide + n NADP+.
oxidoreductase activity	Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced.
scaffold protein binding	Binding to a scaffold protein. Scaffold proteins are crucial regulators of many key signaling pathways. Although not strictly defined in function, they are known to interact and/or bind with multiple members of a signaling pathway, tethering them into complexes.
sodium channel regulator activity	Binds to and modulates the activity of a sodium channel.
tetrahydrobiopterin binding	Binding to a tetrahydrobiopterin, 5,6,7,8-tetrahydrobiopterin or a derivative thereof; tetrahydrobiopterins are enzyme cofactors that carry electrons in redox reactions.
transmembrane transporter binding	Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other.

35 GO annotations of biological process

Name	Definition
arginine catabolic process	The chemical reactions and pathways resulting in the breakdown of arginine, 2-amino-5-(carbamimidamido)pentanoic acid.
cell redox homeostasis	Any process that maintains the redox environment of a cell or compartment within a cell.
cellular response to growth factor stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a growth factor stimulus.
multicellular organismal response to stress	Any process that results in a change in state or activity of a multicellular organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation).
muscle contraction	A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis.
myoblast fusion	A process in which non-proliferating myoblasts fuse to existing fibers or to myotubes to form new fibers. 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.
negative regulation of blood pressure	Any process in which the force of blood traveling through the circulatory system is decreased.
negative regulation of calcium ion transport	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
negative regulation of calcium ion transport into cytosol	Any process that decreases the rate of the directed movement of calcium ions into the cytosol of a cell. The cytosol is that part of the cytoplasm that does not contain membranous or particulate subcellular components.
negative regulation of hydrolase activity	Any process that stops or reduces the rate of hydrolase activity, the catalysis of the hydrolysis of various bonds.
negative regulation of potassium ion transport	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of potassium ions (K+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
negative regulation of serotonin uptake	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of serotonin into a cell.
neurotransmitter biosynthetic process	The chemical reactions and pathways resulting in the formation of any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell.
nitric oxide biosynthetic process	The chemical reactions and pathways resulting in the formation of nitric oxide, nitrogen monoxide (NO), a colorless gas only slightly soluble in water.
nitric oxide mediated signal transduction	Any intracellular signal transduction in which the signal is passed on within the cell via nitric oxide (NO). Includes synthesis of nitric oxide, receptors/sensors for nitric oxide (such as soluble guanylyl cyclase/sGC) and downstream effectors that further transmit the signal within the cell. Nitric oxide transmits its downstream effects through either cyclic GMP (cGMP)-dependent or independent mechanisms.
peptidyl-cysteine S-nitrosylation	The covalent addition of a nitric oxide (NO) group to the sulphur (S) atom of a cysteine residue in a protein, to form peptidyl-S-nitrosyl-L-cysteine.
positive regulation of guanylate cyclase activity	Any process that activates or increases the frequency, rate or extent of guanylate cyclase activity.
positive regulation of histone acetylation	Any process that activates or increases the frequency, rate or extent of the addition of an acetyl group to a histone protein.
positive regulation of peptidyl-serine phosphorylation	Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-serine.
positive regulation of sodium ion transmembrane transport	Any process that activates or increases the frequency, rate or extent of sodium ion transmembrane transport.
positive regulation of the force of heart contraction	Any process that increases the force of heart muscle contraction.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
positive regulation of transcription, DNA-templated	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	Any process that modulates the frequency, rate or extent of generation of calcium ion transmembrane transport via high voltage-gated calcium channel.
regulation of cardiac muscle contraction	Any process that modulates the frequency, rate or extent of cardiac muscle contraction.
regulation of ryanodine-sensitive calcium-release channel activity	Any process that modulates the activity of a ryanodine-sensitive calcium-release channel. The ryanodine-sensitive calcium-release channel catalyzes the transmembrane transfer of a calcium ion by a channel that opens when a ryanodine class ligand has been bound by the channel complex or one of its constituent parts.
regulation of sodium ion transport	Any process that modulates the frequency, rate or extent of the directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
response to heat	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 heat stimulus, a temperature stimulus above the optimal temperature for that organism.
response to hormone	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 hormone stimulus.
response to hypoxia	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 stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.
response to lipopolysaccharide	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 lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
retrograde trans-synaptic signaling by nitric oxide	Cell-cell signaling from postsynapse to presynapse, across the synaptic cleft, mediated by nitric oxide.
striated muscle contraction	A process in which force is generated within striated muscle tissue, resulting in the shortening of the muscle. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Striated muscle is a type of muscle in which the repeating units (sarcomeres) of the contractile myofibrils are arranged in registry throughout the cell, resulting in transverse or oblique striations observable at the level of the light microscope.
vasodilation	An increase in the internal diameter of blood vessels, especially arterioles or capillaries, due to relaxation of smooth muscle cells that line the vessels, and usually resulting in a decrease in blood pressure.
xenobiotic catabolic process	The chemical reactions and pathways resulting in the breakdown of a xenobiotic compound, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.

11 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P29473	NOS3	Nitric oxide synthase, endothelial	Bos taurus (Bovine)	EV
Q9UHB4	NDOR1	NADPH-dependent diflavin oxidoreductase 1	Homo sapiens (Human)	PR
Q9UBK8	MTRR	Methionine synthase reductase	Homo sapiens (Human)	PR
P29474	NOS3	Nitric oxide synthase, endothelial	Homo sapiens (Human)	SS
Q8C1A3	Mtrr	Methionine synthase reductase	Mus musculus (Mouse)	PR
P70313	Nos3	Nitric oxide synthase 3	Mus musculus (Mouse)	SS
Q28969	NOS3	Nitric oxide synthase 3	Sus scrofa (Pig)	SS
Q62600	Nos3	Nitric oxide synthase 3	Rattus norvegicus (Rat)	SS
Q498R1	Mtrr	Methionine synthase reductase	Rattus norvegicus (Rat)	PR
P29476	Nos1	Nitric oxide synthase, brain	Rattus norvegicus (Rat)	SS
Q9FKW6	LFNR1	Ferredoxin--NADP reductase, leaf isozyme 1, chloroplastic	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MEDHMFGVQQ	IQPNVISVRL	FKRKVGGLGF	LVKERVSKPP	VIISDLIRGG	AAEQSGLIQA
70	80	90	100	110	120
GDIILAVNGR	PLVDLSYDSA	LEVLRGIASE	THVVLILRGP	EGFTTHLETT	FTGDGTPKTI
130	140	150	160	170	180
RVTQPLGPPT	KAVDLSHQPP	AGKEQPLAVD	GASGPGNGPQ	HAYDDGQEAG	SLPHANGLAP
190	200	210	220	230	240
RPPGQDPAKK	ATRVSLQGRG	ENNELLKEIE	PVLSLLTSGS	RGVKGGAPAK	AEMKDMGIQV
250	260	270	280	290	300
DRDLDGKSHK	PLPLGVENDR	VFNDLWGKGN	VPVVLNNPYS	EKEQPPTSGK	QSPTKNGSPS
310	320	330	340	350	360
KCPRFLKVKN	WETEVVLTDT	LHLKSTLETG	CTEYICMGSI	MHPSQHARRP	EDVRTKGQLF
370	380	390	400	410	420
PLAKEFIDQY	YSSIKRFGSK	AHMERLEEVN	KEIDTTSTYQ	LKDTELIYGA	KHAWRNASRC
430	440	450	460	470	480
VGRIQWSKLQ	VFDARDCTTA	HGMFNYICNH	VKYATNKGNL	RSAITIFPQR	TDGKHDFRVW
490	500	510	520	530	540
NSQLIRYAGY	KQPDGSTLGD	PANVQFTEIC	IQQGWKPPRG	RFDVLPLLLQ	ANGNDPELFQ
550	560	570	580	590	600
IPPELVLEVP	IRHPKFEWFK	DLGLKWYGLP	AVSNMLLEIG	GLEFSACPFS	GWYMGTEIGV
610	620	630	640	650	660
RDYCDNSRYN	ILEEVAKKMN	LDMRKTSSLW	KDQALVEINI	AVLYSFQSDK	VTIVDHHSAT
670	680	690	700	710	720
ESFIKHMENE	YRCRGGCPAD	WVWIVPPMSG	SITPVFHQEM	LNYRLTPSFE	YQPDPWNTHV
730	740	750	760	770	780
WKGTNGTPTK	RRAIGFKKLA	EAVKFSAKLM	GQAMAKRVKA	TILYATETGK	SQAYAKTLCE
790	800	810	820	830	840
IFKHAFDAKV	MSMEEYDIVH	LEHETLVLVV	TSTFGNGDPP	ENGEKFGCAL	MEMRHPNSVQ
850	860	870	880	890	900
EERKSYKVRF	NSVSSYSDSQ	KSSGDGPDLR	DNFESAGPLA	NVRFSVFGLG	SRAYPHFCAF
910	920	930	940	950	960
GHAVDTLLEE	LGGERILKMR	EGDELCGQEE	AFRTWAKKVF	KAACDVFCVG	DDVNIEKANN
970	980	990	1000	1010	1020
SLISNDRSWK	RNKFRLTFVA	EAPELTQGLS	NVHKKRVSAA	RLLSRQNLQS	PKSSRSTIFV
1030	1040	1050	1060	1070	1080
RLHTNGSQEL	QYQPGDHLGV	FPGNHEDLVN	ALIERLEDAP	PVNQMVKVEL	LEERNTALGV
1090	1100	1110	1120	1130	1140
ISNWTDELRL	PPCTIFQAFK	YYLDITTPPT	PLQLQQFASL	ATSEKEKQRL	LVLSKGLQEY
1150	1160	1170	1180	1190	1200
EEWKWGKNPT	IVEVLEEFPS	IQMPATLLLT	QLSLLQPRYY	SISSSPDMYP	DEVHLTVAIV
1210	1220	1230	1240	1250	1260
SYRTRDGEGP	IHHGVCSSWL	NRIQADELVP	CFVRGAPSFH	LPRNPQVPCI	LVGPGTGIAP
1270	1280	1290	1300	1310	1320
FRSFWQQRQF	DIQHKGMNPC	PMVLVFGCRQ	SKIDHIYREE	TLQAKNKGVF	RELYTAYSRE
1330	1340	1350	1360	1370	1380
PDKPKKYVQD	ILQEQLAESV	YRALKEQGGH	IYVCGDVTMA	ADVLKAIQRI	MTQQGKLSAE
1390	1400	1410	1420	1430
DAGVFISRMR	DDNRYHEDIF	GVTLRTYEVT	NRLRSESIAF	IEESKKDTDE	VFSS