AiPD: Autoinhibited Protein Database

P29474

Gene name	NOS3
Protein name	Nitric oxide synthase, endothelial
Names	Constitutive NOS, cNOS, EC-NOS, Endothelial NOS, eNOS, NOS type III, NOSIII
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4846
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. The autoinhibitory region was inferred by sequence similarity with the bovine eNOS (P29473).

Autoinhibitory domains (AIDs)

593-637 (Autoinhibitory loop) SS

Target domain	121-481 (NO synthase domain); 756-1123 (FAD/NAD-binding domain)
Relief mechanism	Partner binding
Assay

AID

593-637 (Autoinhibitory loop)

Target domain

121-481 (NO synthase domain); 756-1123 (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

66 structures for P29474

Entry ID	Method	Resolution	Chain	Position	Source
1M9J	X-ray	243 A	A/B	67-481	PDB
1M9K	X-ray	201 A	A/B	67-481	PDB
1M9M	X-ray	196 A	A/B	67-481	PDB
1M9Q	X-ray	201 A	A/B	67-481	PDB
1M9R	X-ray	256 A	A/B	67-481	PDB
1NIW	X-ray	205 A	B/D/F/H	492-511	PDB
2LL7	NMR	-	B	493-509	PDB
2MG5	NMR	-	B	495-510	PDB
2N8J	NMR	-	B	491-512	PDB
3EAH	X-ray	244 A	A/B	66-492	PDB
3NOS	X-ray	240 A	A/B	66-492	PDB
4D1O	X-ray	182 A	A/B	41-480	PDB
4D1P	X-ray	173 A	A/B	41-480	PDB
5UO8	X-ray	218 A	A/B/C/D	41-480	PDB
5UO9	X-ray	219 A	A/B/C/D	41-480	PDB
5UOA	X-ray	220 A	A/B	41-480	PDB
5UOB	X-ray	229 A	A/B/C/D	41-480	PDB
5UOC	X-ray	220 A	A/B/C/D	41-480	PDB
5VVB	X-ray	215 A	A/B/C/D	41-480	PDB
5VVC	X-ray	240 A	A/B/C/D	41-480	PDB
5VVD	X-ray	225 A	A/B/C/D	41-480	PDB
5XOF	X-ray	196 A	O/P/Q/R	30-36	PDB
6AV6	X-ray	208 A	A/B/C/D	41-480	PDB
6AV7	X-ray	192 A	A/B/C/D	41-480	PDB
6CIE	X-ray	195 A	A/B/C/D	41-480	PDB
6CIF	X-ray	220 A	A/B/C/D	41-480	PDB
6NH1	X-ray	222 A	A/B/C/D	41-480	PDB
6NH2	X-ray	229 A	A/B/C/D	41-480	PDB
6NH3	X-ray	201 A	A/B/C/D	41-480	PDB
6NH4	X-ray	227 A	A/B/C/D	41-480	PDB
6NH5	X-ray	196 A	A/B/C/D	41-480	PDB
6NH6	X-ray	219 A	A/B/C/D	41-480	PDB
6NH7	X-ray	190 A	A/B	41-480	PDB
6NH8	X-ray	180 A	A/B/C/D	41-480	PDB
6NHF	X-ray	183 A	A/B/C/D	41-480	PDB
6POU	X-ray	219 A	A/B/C/D/E/F	41-480	PDB
6POV	X-ray	205 A	A/B/C/D	41-480	PDB
6POW	X-ray	215 A	A/B/C/D	41-480	PDB
6POX	X-ray	220 A	A/B/C/D	41-480	PDB
6POY	X-ray	230 A	A/B/C/D	41-480	PDB
6POZ	X-ray	220 A	A/B/C/D	41-480	PDB
6PP0	X-ray	197 A	A/B/C/D	41-480	PDB
6PP1	X-ray	176 A	A/B/C/D	41-480	PDB
6PP2	X-ray	202 A	A/B/C/D	41-480	PDB
6PP3	X-ray	195 A	A/B/C/D	41-480	PDB
6PP4	X-ray	220 A	A/B/C/D	41-480	PDB
7M56	X-ray	196 A	A/B	41-480	PDB
7TSG	X-ray	185 A	A/B/C/D	41-480	PDB
7TSH	X-ray	215 A	A/B/C/D	41-480	PDB
7TSI	X-ray	210 A	A/B/C/D	41-480	PDB
7TSK	X-ray	205 A	A/B/C/D	41-480	PDB
7TSL	X-ray	190 A	A/B/C/D	41-480	PDB
7TSM	X-ray	185 A	A/B/C/D	41-480	PDB
7TSN	X-ray	208 A	A/B/C/D	41-480	PDB
7TSO	X-ray	200 A	A/B/C/D	41-480	PDB
7TSP	X-ray	200 A	A/B/C/D	41-480	PDB
7UAO	X-ray	190 A	A/B/C/D	41-480	PDB
8FGN	X-ray	220 A	A/B/C/D	41-480	PDB
8FGO	X-ray	180 A	A/B/C/D	41-480	PDB
8FGP	X-ray	188 A	A/B/C/D	41-480	PDB
8FGQ	X-ray	220 A	A/B/C/D	41-480	PDB
8FGR	X-ray	198 A	A/B/C/D	41-480	PDB
8FGS	X-ray	184 A	A/B/C/D	41-480	PDB
8FGT	X-ray	190 A	A/B/C/D	41-480	PDB
8FGU	X-ray	200 A	A/B/C/D	41-480	PDB
AF-P29474-F1	Predicted				AlphaFoldDB

1014 variants for P29474

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001270207 rs752309888 CA4566506	58	P>S	Premature ovarian failure [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1802424536 RCV001198168	95	T>I	Essential hypertension [ClinVar]	Yes	ClinVar dbSNP
rs765854160 CA4566633 RCV001270208	169	E>K	Premature ovarian failure [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000455688 RCV001689570 RCV000015056 RCV000015058 RCV000015054 RCV000677305 rs1799983 CA123702 RCV000015057 RCV000015055 RCV000015053 VAR_008037	298	D>E	Hypertension, pregnancy-induced, susceptibility to Ischemic heart disease, susceptibility to Metabolic syndrome, susceptibility to Alzheimer disease, late-onset, susceptibility to Coronary artery spasm 1, susceptibility to Ischemic stroke, susceptibility to Hypertension resistant to conventional therapy [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001330005 rs1795021746	351	A>V	Alzheimer disease [ClinVar]	Yes	ClinVar dbSNP
CA369850805 rs1363067747	5	K>N		No	ClinGen gnomAD
rs1164406674 CA369850803	5	K>R		No	ClinGen gnomAD
rs1312281138 CA369850811	6	S>T		No	ClinGen TOPMed
rs147771478 CA4566455	7	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1201953550 CA369850830	9	Q>R		No	ClinGen gnomAD
CA4566457 rs547845670	10	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA4566459 rs141170595	11	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs141170595 CA4566458	11	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4566460 rs757589399	12	G>E		No	ClinGen ExAC TOPMed gnomAD
CA4566461 rs201968188	13	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA169068052 rs925565610	13	P>S		No	ClinGen TOPMed gnomAD
rs755834879 CA369850863	15	C>F		No	ClinGen ExAC gnomAD
CA4566462 rs745489730	15	C>R		No	ClinGen ExAC gnomAD
rs755834879 CA4566463	15	C>Y		No	ClinGen ExAC gnomAD
rs368332097 CA4566465	16	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA369850887 rs1178452647	20	G>R		No	ClinGen TOPMed
rs1563206770 CA369850898	22	G>S		No	ClinGen Ensembl
CA369850930 rs372106353	27	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771786669 CA4566470	27	G>D		No	ClinGen ExAC gnomAD
rs372106353 CA4566469	27	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1294845766 CA369850933	28	K>Q		No	ClinGen gnomAD
CA4566471 rs773099942	30	G>D		No	ClinGen ExAC gnomAD
CA369850956 rs1451795121	31	P>S		No	ClinGen TOPMed
rs759672158 CA4566472	32	A>D		No	ClinGen ExAC gnomAD
rs765551784 CA4566473	33	T>I		No	ClinGen ExAC gnomAD
CA169068131 rs913170985	34	P>A		No	ClinGen TOPMed
rs556096751 CA4566474	34	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1484645038 CA369850990	37	E>G		No	ClinGen gnomAD
rs907719973 CA169068147	38	P>R		No	ClinGen TOPMed gnomAD
rs764652925 CA4566477	40	R>G		No	ClinGen ExAC TOPMed gnomAD
CA4566478 rs199688227	40	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764652925 CA4566476	40	R>W		No	ClinGen ExAC TOPMed gnomAD
rs867562196 CA169068161	41	A>D		No	ClinGen gnomAD
rs996081462 CA169068171	46	L>R		No	ClinGen TOPMed
CA169068172 rs866430608	47	P>Q		No	ClinGen TOPMed
CA369851051 rs1453213012	48	P>L		No	ClinGen gnomAD
rs750868781 CA4566480	48	P>S		No	ClinGen ExAC gnomAD
rs755710890 CA4566482	49	A>E		No	ClinGen ExAC TOPMed gnomAD
CA369851053 rs1294157279	49	A>P		No	ClinGen gnomAD
rs755710890 CA4566481	49	A>V		No	ClinGen ExAC TOPMed gnomAD
CA369851064 rs1344640868	51	E>*		No	ClinGen gnomAD
rs1344640868 CA369851062	51	E>K		No	ClinGen gnomAD
CA4566502 rs756506565	53	S>R		No	ClinGen ExAC gnomAD
CA169068987 rs201405443	54	P>R		No	ClinGen 1000Genomes
CA4566504 rs753511043	54	P>S		No	ClinGen ExAC gnomAD
CA4566503 rs753511043	54	P>T		No	ClinGen ExAC gnomAD
rs374957936 COSM1087300 CA4566505	55	P>L	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1207876196 CA369851106	56	S>G		No	ClinGen gnomAD
rs1231553866 CA369851118	57	S>F		No	ClinGen gnomAD
CA4566507 rs769056386	58	P>L		No	ClinGen ExAC gnomAD
CA169069001 rs769056386	58	P>R		No	ClinGen ExAC gnomAD
rs1584896069 CA369851127	60	T>P		No	ClinGen Ensembl
rs746738157 CA4566509	61	Q>*		No	ClinGen ExAC gnomAD
rs770869920 CA4566510	61	Q>H		No	ClinGen ExAC gnomAD
CA4566511 rs781177134	62	P>S		No	ClinGen ExAC TOPMed gnomAD
rs781177134 CA369851139	62	P>T		No	ClinGen ExAC TOPMed gnomAD
CA369851148 rs551113047	63	P>L		No	ClinGen gnomAD
CA169069011 rs551113047	63	P>Q		No	ClinGen gnomAD
rs1430367178 CA369851144	63	P>T		No	ClinGen gnomAD
CA4566512 rs749486758	65	G>V		No	ClinGen ExAC TOPMed gnomAD
rs769070711 CA4566513	66	P>R		No	ClinGen ExAC TOPMed gnomAD
rs200364898 CA4566515	67	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1313777567 CA369851186	69	P>R		No	ClinGen gnomAD
CA4566516 rs772393632	70	R>C		No	ClinGen ExAC
CA4566517 rs773801891	70	R>H		No	ClinGen ExAC TOPMed gnomAD
CA369851191 rs773801891	70	R>L		No	ClinGen ExAC TOPMed gnomAD
CA369851190 rs773801891	70	R>P		No	ClinGen ExAC TOPMed gnomAD
rs766709364 CA4566519	71	V>L		No	ClinGen ExAC gnomAD
rs1454255085 CA369851214	74	W>R		No	ClinGen gnomAD
rs1007320995 CA169069027	75	E>D		No	ClinGen Ensembl
rs754267661 CA4566520	76	V>A		No	ClinGen ExAC TOPMed gnomAD
CA169069031 rs976694454	77	G>E		No	ClinGen TOPMed
CA369851241 rs1258034176	78	S>G		No	ClinGen gnomAD
rs1460122551 CA369851242	78	S>N		No	ClinGen TOPMed gnomAD
rs777130244 CA169069039	80	T>I		No	ClinGen Ensembl
CA369851267 rs1293414296	82	D>H		No	ClinGen TOPMed
rs752080614 CA4566523	83	T>A		No	ClinGen ExAC TOPMed gnomAD
rs757953790 CA4566524	83	T>I		No	ClinGen ExAC gnomAD
CA369851275 rs752080614	83	T>P		No	ClinGen ExAC TOPMed gnomAD
CA369851293 rs1417289111	86	A>S		No	ClinGen TOPMed gnomAD
CA369851295 rs1417289111	86	A>T		No	ClinGen TOPMed gnomAD
rs1031908196 CA169069044	88	A>E		No	ClinGen TOPMed gnomAD
rs998722709 CA169069043	88	A>T		No	ClinGen Ensembl
rs1031908196 CA169069046	88	A>V		No	ClinGen TOPMed gnomAD
CA4566528 rs375304782	89	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA169069528 rs971095296	91	D>N		No	ClinGen TOPMed gnomAD
CA4566560 rs762658896	92	G>R		No	ClinGen ExAC TOPMed gnomAD
CA369851656 rs762658896	92	G>W		No	ClinGen ExAC TOPMed gnomAD
rs960842733 CA169069533	93	P>T		No	ClinGen TOPMed gnomAD
rs763714796 CA4566561	94	C>S		No	ClinGen ExAC
CA4566562 rs773945601	97	R>G		No	ClinGen ExAC gnomAD
CA369851692 rs1404768705	98	R>C		No	ClinGen TOPMed gnomAD
CA169069544 rs918635683	98	R>H		No	ClinGen TOPMed gnomAD
rs1337855228 CA369851713	101	G>V		No	ClinGen gnomAD
rs370402227 CA4566563	104	V>I		No	ClinGen ESP ExAC gnomAD
rs370402227 CA169069548	104	V>L		No	ClinGen ESP ExAC gnomAD
CA4566565 rs750409788	107	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4566564 rs767525655	107	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1357149027 CA369851761	110	Q>*		No	ClinGen gnomAD
CA369851765 rs1221596483	110	Q>H		No	ClinGen gnomAD
CA369851767 rs1176870157	111	G>S		No	ClinGen gnomAD
rs3918166 CA4566569	112	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_031218 CA4566568 rs3918166	112	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4566567 rs766167664	112	R>W		No	ClinGen ExAC TOPMed gnomAD
CA4566570 rs777862962	113	P>R		No	ClinGen ExAC gnomAD
rs1472873088 CA369851785	114	S>C		No	ClinGen gnomAD
rs368121237 CA4566572	115	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs368121237 CA369851790	115	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1399190911 CA369851793	116	G>D		No	ClinGen TOPMed
CA369851792 rs200136447	116	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200136447 CA4566573	116	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770267938 CA4566575	118	P>L		No	ClinGen ExAC TOPMed gnomAD
CA369851804 rs1299928917	118	P>S		No	ClinGen TOPMed
rs943588082 CA169069570	119	A>G		No	ClinGen gnomAD
CA369851807 rs1433923220	119	A>T		No	ClinGen TOPMed
rs943588082 CA369851811	119	A>V		No	ClinGen gnomAD
rs1454683234 CA369851818	121	E>K		No	ClinGen gnomAD
rs201788333 CA4566579	122	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4566580 rs761360160	122	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs767114986 CA4566581	124	L>P		No	ClinGen ExAC TOPMed gnomAD
rs767114986 CA169069576	124	L>R		No	ClinGen ExAC TOPMed gnomAD
rs772889860 CA4566582	125	S>I		No	ClinGen ExAC TOPMed gnomAD
CA369851844 rs772889860	125	S>T		No	ClinGen ExAC TOPMed gnomAD
rs149224629 CA4566583	126	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1271909654 CA369851854	127	A>T		No	ClinGen TOPMed gnomAD
CA4566586 rs148359917	128	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000955385 CA4566585 rs148359917	128	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4566584 rs143324164	128	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751755993 CA4566588	129	D>G		No	ClinGen ExAC gnomAD
CA4566587 rs764249747	129	D>N		No	ClinGen ExAC gnomAD
rs757508059 CA4566589	132	N>Y		No	ClinGen ExAC gnomAD
rs1375277806 CA369851949	133	Q>H		No	ClinGen gnomAD
CA169069591 rs1024282011	136	S>R		No	ClinGen TOPMed
rs781240011 CA4566590	138	I>V		No	ClinGen ExAC gnomAD
rs1403304108 CA369852039	139	K>E		No	ClinGen gnomAD
rs201297780 CA4566613	142	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369852188 rs1261994964	144	Q>P		No	ClinGen gnomAD
CA4566615 rs553156572	146	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4566617 rs748582484	147	E>K		No	ClinGen ExAC gnomAD
CA369852266 rs1490959439	148	Q>H		No	ClinGen gnomAD
CA4566619 rs368889481	149	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4566618 rs771783555	149	R>W		No	ClinGen ExAC gnomAD
CA169069674 rs538574369	151	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs538574369 CA4566620	151	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA4566621 rs770325183	152	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA369852340 rs1054754614	153	V>A		No	ClinGen gnomAD
rs1054754614 CA169069676	153	V>G		No	ClinGen gnomAD
rs1362142682 CA369852329	153	V>M		No	ClinGen gnomAD
CA169069679 rs1052769197	155	A>D		No	ClinGen TOPMed
CA4566624 rs141456642	156	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141456642 CA4566625	156	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4566626 rs762744321	157	V>A		No	ClinGen ExAC
CA369852387 rs1379060831	157	V>M		No	ClinGen TOPMed
CA4566627 rs201564318	158	A>P		No	ClinGen ExAC gnomAD
CA4566628 rs369302672	159	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1044229445 CA169069690	159	A>T		No	ClinGen TOPMed gnomAD
CA169069694 rs369302672	159	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1391623662 CA369852428	160	T>R		No	ClinGen gnomAD
CA369852430 rs1308607485	161	G>S		No	ClinGen gnomAD
rs1237684835 CA369852456	164	Q>H		No	ClinGen gnomAD
CA369852453 rs1333544363	164	Q>P		No	ClinGen gnomAD
rs761010035 CA4566629	166	R>K		No	ClinGen ExAC TOPMed gnomAD
CA4566630 rs373513247	168	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs376724956 CA369852512	168	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs376724956 CA4566631	168	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA4566634 rs145711802	172	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs758853625 CA4566636	173	G>R		No	ClinGen ExAC TOPMed gnomAD
CA369852584 rs758853625	173	G>R		No	ClinGen ExAC TOPMed gnomAD
CA4566635 rs758853625	173	G>W		No	ClinGen ExAC TOPMed gnomAD
RCV000915652 rs746609536 CA4566637	174	A>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1387125140 CA369852617	175	K>N		No	ClinGen TOPMed gnomAD
rs1426501562 CA369852629	176	Q>H		No	ClinGen gnomAD
CA169069708 rs371631181	176	Q>K		No	ClinGen Ensembl
CA369852637 rs1240827867	177	A>G		No	ClinGen TOPMed
CA4566638 rs756997922	179	R>C		No	ClinGen ExAC TOPMed gnomAD
rs753853899 CA4566639	179	R>H		No	ClinGen ExAC gnomAD
rs769649020 CA4566641	181	A>T		No	ClinGen ExAC gnomAD
CA369852689 rs1393847189	181	A>V		No	ClinGen gnomAD
CA4566642 rs775440871	183	R>C		No	ClinGen ExAC gnomAD
rs1315177061 CA369852713	183	R>H		No	ClinGen gnomAD
rs1315177061 CA369852714	183	R>P		No	ClinGen gnomAD
rs768422710 CA4566644	185	V>A		No	ClinGen ExAC TOPMed gnomAD
CA4566643 rs377756718	185	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA369852762 rs1249876232	187	R>G		No	ClinGen TOPMed gnomAD
CA4566645 rs774245801	187	R>Q		No	ClinGen ExAC gnomAD
CA369852764 rs1249876232	187	R>W		No	ClinGen TOPMed gnomAD
rs934958946 CA169069722	188	I>S		No	ClinGen TOPMed
rs1245054601 CA369852816	190	W>*		No	ClinGen gnomAD
rs1442784530 CA369852854	193	L>M		No	ClinGen gnomAD
CA4566679 rs753404849	195	V>G		No	ClinGen ExAC gnomAD
rs779539561 CA4566678	195	V>M		No	ClinGen ExAC gnomAD
rs754814568 CA4566681	196	F>L		No	ClinGen ExAC TOPMed gnomAD
CA169070370 rs988809853	197	D>N		No	ClinGen TOPMed gnomAD
rs747847427 CA4566682	198	A>T		No	ClinGen ExAC gnomAD
rs777749928 CA4566684	199	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4566683 rs771875498	199	R>W		No	ClinGen ExAC gnomAD
CA4566685 rs746083381	200	D>H		No	ClinGen ExAC gnomAD
CA4566686 rs770195521	201	C>R		No	ClinGen ExAC gnomAD
CA369853671 rs1425729149	201	C>Y		No	ClinGen gnomAD
CA4566687 rs775649062	202	R>K		No	ClinGen ExAC gnomAD
CA369853694 rs1343971834	202	R>S		No	ClinGen gnomAD
CA369853699 rs1436044768	203	S>P		No	ClinGen gnomAD
rs763096145 CA4566688	203	S>Y		No	ClinGen ExAC gnomAD
CA369853725 rs1375693812	205	Q>*		No	ClinGen gnomAD
CA369853723 rs1375693812	205	Q>E		No	ClinGen gnomAD
CA4566690 rs769000909	207	M>I		No	ClinGen ExAC TOPMed gnomAD
CA4566689 rs769000909	207	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1282115463 CA369853788	208	F>L		No	ClinGen TOPMed gnomAD
CA369853802 rs1462443493	209	T>I		No	ClinGen TOPMed
rs1584901166 CA369853791	209	T>P		No	ClinGen Ensembl
rs1217772298 CA369853812	210	Y>C		No	ClinGen gnomAD
rs767896526 CA4566692	211	I>S		No	ClinGen ExAC gnomAD
CA369853858 rs1489765923	213	N>S		No	ClinGen TOPMed gnomAD
CA369853869 rs1197804854	214	H>Y		No	ClinGen gnomAD
rs750857933 CA4566693	221	R>Q		No	ClinGen ExAC gnomAD
rs1464236122 CA369853965	221	R>W		No	ClinGen TOPMed gnomAD
CA4566694 rs760308142	222	G>D		No	ClinGen ExAC gnomAD
CA4566696 rs753279569	223	N>K		No	ClinGen ExAC TOPMed gnomAD
rs753279569 CA4566697	223	N>K		No	ClinGen ExAC TOPMed gnomAD
rs766034143 CA4566695	223	N>S		No	ClinGen ExAC TOPMed gnomAD
CA4566698 rs778334154	225	R>C		No	ClinGen ExAC gnomAD
rs752647465 CA4566699	225	R>H		No	ClinGen ExAC TOPMed gnomAD
rs375752214 CA169070531	226	S>L		No	ClinGen ESP TOPMed gnomAD
rs1341139296 CA369854023	228	I>V		No	ClinGen gnomAD
CA369854031 rs1257027377	229	T>K		No	ClinGen gnomAD
CA169070540 rs548798201	229	T>S		No	ClinGen Ensembl
CA169070541 COSM1217595 rs867948444	232	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA4566717 rs752207237	234	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4566718 rs758294669	234	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4566719 rs764127718	236	P>L		No	ClinGen ExAC gnomAD
CA4566720 rs145740130	238	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs757138786 CA4566721	240	D>N		No	ClinGen ExAC gnomAD
CA4566722 rs547250013	242	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749498142 CA4566723	242	R>Q		No	ClinGen ExAC gnomAD
rs1174405566 CA369854117	243	I>T		No	ClinGen gnomAD
rs1563215842 CA369854121	244	W>G		No	ClinGen Ensembl
CA4566724 rs755226277	246	S>N		No	ClinGen ExAC gnomAD
CA4566725 rs779041978	247	Q>H		No	ClinGen ExAC gnomAD
CA369854145 rs1423301071	247	Q>K		No	ClinGen TOPMed
rs1328049835 CA369854155	249	V>M		No	ClinGen gnomAD
rs368296624 COSM1449229 CA169070552	250	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
rs1277224565 CA369854165	250	R>H		No	ClinGen gnomAD
CA369854163 rs1277224565	250	R>L		No	ClinGen gnomAD
CA369854178 rs1253756980	252	A>G		No	ClinGen TOPMed gnomAD
CA369854174 rs1224918607	252	A>T		No	ClinGen gnomAD
CA369854177 rs1253756980	252	A>V		No	ClinGen TOPMed gnomAD
CA4566729 rs200161933	255	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs41377046 CA4566731	255	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4566728 rs200161933	255	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs764810572 CA4566733	257	Q>K		No	ClinGen ExAC gnomAD
CA369854218 rs1549758	258	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs552165450 CA4566737	259	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4566736 rs762580019	259	G>S		No	ClinGen ExAC gnomAD
CA4566740 rs767419274	260	S>C		No	ClinGen ExAC gnomAD
COSM3411803 rs750247122 CA4566741	262	R>Q	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1387008421 CA369854234	262	R>W		No	ClinGen gnomAD
CA369854239 rs1259135041	263	G>R		No	ClinGen TOPMed
CA369854248 rs1584901577	264	D>G		No	ClinGen Ensembl
CA369854244 rs1238625822	264	D>N		No	ClinGen TOPMed
CA369854252 rs1297379613	265	P>T		No	ClinGen gnomAD
CA369854265 rs1298737430	267	N>D		No	ClinGen gnomAD
rs1584901615 CA369854276	268	V>G		No	ClinGen Ensembl
CA4566744 rs748219210	268	V>M		No	ClinGen ExAC TOPMed
CA369854278 rs1263053337	269	E>Q		No	ClinGen TOPMed gnomAD
CA4566746 rs777881232	271	T>A		No	ClinGen ExAC gnomAD
rs1490923378 CA369854299	272	E>K		No	ClinGen gnomAD
CA4566773 rs773945576	276	Q>*		No	ClinGen ExAC gnomAD
rs142721517 CA4566774	276	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4566776 rs552501121	278	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1204347173 CA369854356	278	G>V		No	ClinGen gnomAD
CA4566777 rs562526133	280	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA169070849 rs1024836348	280	T>N		No	ClinGen Ensembl
rs562526133 CA369854367	280	T>P		No	ClinGen 1000Genomes ExAC gnomAD
CA4566779 rs139184126	284	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4566780 rs763102899	285	R>C		No	ClinGen ExAC TOPMed gnomAD
rs374834315 CA4566781 COSM1312839	285	R>H	urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
RCV000892839 rs149539813 CA4566782	287	D>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4566784 rs369199140	288	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1232669795 CA369854426	290	P>S		No	ClinGen TOPMed
CA4566786 rs750862818	294	Q>R		No	ClinGen ExAC gnomAD
CA169070875 rs921507371	295	A>V		No	ClinGen Ensembl
CA4566787 rs756713322	296	P>T		No	ClinGen ExAC gnomAD
rs749685848 CA369854465	297	D>G		No	ClinGen ExAC gnomAD
CA169070892 rs932347800	297	D>H		No	ClinGen Ensembl
rs749685848 CA4566789	297	D>V		No	ClinGen ExAC gnomAD
rs1799983 CA369854472	298	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778744020 CA4566791	298	D>G		No	ClinGen ExAC gnomAD
rs754610826 CA4566790	298	D>N		No	ClinGen ExAC TOPMed gnomAD
CA369854476 rs1221147964	299	P>L		No	ClinGen TOPMed
CA369854491 rs945123272	301	E>D		No	ClinGen TOPMed gnomAD
rs1265097941 CA369854486	301	E>Q		No	ClinGen gnomAD
CA4566792 rs372711936	304	L>F		No	ClinGen ESP ExAC gnomAD
rs1255330439 CA369854515	305	L>P		No	ClinGen gnomAD
CA369854521 rs1250352424	306	P>L		No	ClinGen gnomAD
CA4566794 rs772821149	306	P>S		No	ClinGen ExAC gnomAD
CA369854524 rs1221724980	307	P>A		No	ClinGen TOPMed
rs369489094 CA4566796	308	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA4566797 rs776337411	308	E>V		No	ClinGen ExAC gnomAD
CA4566800 rs774533101	310	V>A		No	ClinGen ExAC gnomAD
CA4566799 rs764251587	310	V>I		No	ClinGen ExAC TOPMed gnomAD
rs762133718 CA4566801	311	L>F		No	ClinGen ExAC gnomAD
rs1346272741 CA369854551	312	E>A		No	ClinGen gnomAD
CA4566802 rs767488027	313	V>A		No	ClinGen ExAC gnomAD
CA4566803 rs750576672	319	T>M		No	ClinGen ExAC TOPMed gnomAD
rs767941258 CA169071090	320	L>M		No	ClinGen Ensembl
CA369854676 rs1412012518	328	L>P		No	ClinGen gnomAD
rs745799975 CA4566834	329	R>C		No	ClinGen ExAC TOPMed gnomAD
rs745799975 CA369854683	329	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM3431379 CA369854685 rs1329785228	329	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs769779233 CA4566835	331	Y>C		No	ClinGen ExAC gnomAD
CA4566837 rs749115207	332	A>T		No	ClinGen ExAC TOPMed gnomAD
rs772146460 CA4566838	334	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1285742281 CA369854762	335	A>T		No	ClinGen gnomAD
CA369854797 rs1434316690	338	N>H		No	ClinGen TOPMed
rs771107300 CA4566841	338	N>S		No	ClinGen ExAC TOPMed gnomAD
rs200116564 CA169071100	339	M>I		No	ClinGen gnomAD
rs1184308065 CA369854819	339	M>K		No	ClinGen TOPMed
rs1485322008 CA369854831	340	L>M		No	ClinGen TOPMed
CA369854872 rs1319448556	343	I>N		No	ClinGen TOPMed gnomAD
CA369854874 rs1319448556	343	I>T		No	ClinGen TOPMed gnomAD
CA369854930 rs1341054225	348	F>I		No	ClinGen TOPMed gnomAD
rs1262346751 CA369854934	348	F>S		No	ClinGen TOPMed
rs1210712482 CA369854951	349	P>L		No	ClinGen TOPMed
rs376007167 CA4566845	350	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA369854963 rs1228598346	350	A>V		No	ClinGen gnomAD
rs756968934 CA4566850	357	Y>*		No	ClinGen ExAC gnomAD
CA4566851 rs756968934	357	Y>*		No	ClinGen ExAC gnomAD
CA4566849 rs751192053	357	Y>C		No	ClinGen ExAC gnomAD
CA4566848 rs201023253	357	Y>D		No	ClinGen ExAC gnomAD
CA369855065 rs1406840515	358	M>L		No	ClinGen gnomAD
rs749950870 CA4566852	358	M>T		No	ClinGen ExAC gnomAD
rs1406840515 CA369855063	358	M>V		No	ClinGen gnomAD
CA4566853 rs755980179	359	S>R		No	ClinGen ExAC
CA369855133 rs1338548317	362	I>T		No	ClinGen gnomAD
CA4566854 rs572058640 COSM1087301	363	G>S	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA4566855 rs748988376	364	T>M		No	ClinGen ExAC gnomAD
rs1345105436 CA369855186	366	N>K		No	ClinGen gnomAD
rs1345105436 CA369855185	366	N>K		No	ClinGen gnomAD
CA369855222 rs1361448126	369	D>V		No	ClinGen TOPMed
rs1277092219 CA369855234	370	P>L		No	ClinGen gnomAD
rs1168990449 CA369855239	371	H>N		No	ClinGen TOPMed
CA4566860 rs41508746	372	R>C		No	ClinGen ExAC TOPMed gnomAD
CA369855252 rs41508746	372	R>G		No	ClinGen ExAC TOPMed gnomAD
rs759717803 CA4566861	372	R>H		No	ClinGen ExAC TOPMed gnomAD
CA369855283 rs1265731365	374	N>S		No	ClinGen gnomAD
rs774633148 CA4566885	378	D>N		No	ClinGen ExAC gnomAD
CA369856156 rs1417608495	382	C>F		No	ClinGen gnomAD
rs147787542 CA169071868	383	M>K		No	ClinGen ESP TOPMed gnomAD
CA169071872 rs147787542	383	M>T		No	ClinGen ESP TOPMed gnomAD
rs1287336608 CA369856189	384	D>E		No	ClinGen TOPMed
CA369856199 rs1335246404	386	D>N		No	ClinGen TOPMed
CA4566887 rs767108240	388	R>Q		No	ClinGen ExAC gnomAD
rs139563673 CA4566886	388	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs772829876 CA4566888	390	T>I		No	ClinGen ExAC gnomAD
CA369856248 rs1584903791	390	T>S		No	ClinGen Ensembl
rs760363691 CA4566889	391	S>L		No	ClinGen ExAC TOPMed gnomAD
CA369856280 rs1312085340	393	L>P		No	ClinGen gnomAD
CA369856306 rs1356457482	395	K>E		No	ClinGen TOPMed
rs1266365289 CA369856354	398	A>T		No	ClinGen gnomAD
CA4566894 rs564627807	400	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA369856411 rs1584903857	402	I>M		No	ClinGen Ensembl
CA4566896 rs758240936	404	V>M		No	ClinGen ExAC gnomAD
rs1458267079 CA369856449	405	A>V		No	ClinGen gnomAD
CA369856483 rs375280994	408	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs145000830 CA4566899	411	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA369856689 rs1370195438	416	T>A		No	ClinGen Ensembl
rs1312402859 CA369856697	416	T>I		No	ClinGen gnomAD
CA369856687 rs1370195438	416	T>P		No	ClinGen Ensembl
rs953325985 CA169072398	418	V>L		No	ClinGen TOPMed gnomAD
CA169072390 rs953325985	418	V>M		No	ClinGen TOPMed gnomAD
rs555751737 CA4566925	419	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA369856749 rs1394642702	420	H>N		No	ClinGen TOPMed
CA4566926 rs371369842	421	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000893138 rs150935488 CA4566928	422	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs141089940 CA369856787	423	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4566930 rs141089940	423	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs578101703 CA4566931	424	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4566932 rs775196910	425	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4566935 rs764129734	428	M>L		No	ClinGen ExAC gnomAD
CA369856817 rs1177487974	428	M>T		No	ClinGen gnomAD
rs764129734 CA4566934	428	M>V		No	ClinGen ExAC gnomAD
CA4566936 rs150278266	429	K>N		No	ClinGen ESP ExAC
CA4566937 rs145811781	432	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA369856842 rs1563219948	432	E>K		No	ClinGen Ensembl
CA4566938 rs563793183	434	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs755294998 CA4566942	438	R>S		No	ClinGen ExAC TOPMed gnomAD
CA4566941 rs755294998	438	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1402149649 CA369856889	438	R>T		No	ClinGen gnomAD
CA4566943 rs375829467	439	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1228027476 CA369856893	439	G>W		No	ClinGen TOPMed
CA4566945 rs369543769	440	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs369543769 CA369856897	440	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA369856896 rs369543769	440	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA369856900 rs1374995298	440	G>V		No	ClinGen TOPMed
rs1313907678 CA369856906	441	C>F		No	ClinGen gnomAD
rs1207866959 CA369856909	442	P>T		No	ClinGen TOPMed gnomAD
rs771167274 CA4566947	446	A>T		No	ClinGen ExAC gnomAD
CA369856958 rs1436866132	448	I>M		No	ClinGen TOPMed
rs749451521 CA169072481	449	V>L		No	ClinGen ExAC TOPMed gnomAD
CA4566949 rs749451521	449	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1191289576 CA369856978	452	I>N		No	ClinGen gnomAD
CA4566950 rs371990302	453	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs924482639 CA169072490	454	G>S		No	ClinGen TOPMed
rs748837695 CA369856998	455	S>R		No	ClinGen ExAC gnomAD
CA369857005 rs1381377253	456	L>R		No	ClinGen gnomAD
CA369857008 rs1296624626	457	T>P		No	ClinGen gnomAD
rs868460763 CA169072496	458	P>L		No	ClinGen Ensembl
CA4566954 rs774136180	462	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs935390800 CA169072497	464	M>I		No	ClinGen Ensembl
rs761850108 CA4566955	465	V>L		No	ClinGen ExAC TOPMed gnomAD
CA369857068 rs1365503032	466	N>D		No	ClinGen gnomAD
rs1217473053 CA369857071	466	N>S		No	ClinGen gnomAD
rs767213688 CA4566956	467	Y>N		No	ClinGen ExAC gnomAD
CA369857092 rs1283555747	469	L>Q		No	ClinGen gnomAD
rs1584904716 CA369857096	470	S>P		No	ClinGen Ensembl
rs774225083 COSM1449232 CA169072518	471	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs752737602 CA4566960	473	F>L		No	ClinGen ExAC TOPMed gnomAD
CA4566961 VAR_036303 COSM32448 rs145805216	474	R>C	found in a colorectal cancer sample; somatic mutation large_intestine [UniProt, Cosmic]	No	ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD
rs764271277 COSM1449234 CA4566962	474	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA369857121 rs764271277	474	R>L		No	ClinGen ExAC TOPMed gnomAD
CA169072528 rs748674423	475	Y>D		No	ClinGen Ensembl
rs1584904758 CA369857125	475	Y>S		No	ClinGen Ensembl
rs1411860559 CA369857160	478	D>G		No	ClinGen gnomAD
rs1461084090 CA369857166	479	P>S		No	ClinGen gnomAD
rs772820202 COSM231143 CA4566975	480	W>*	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA369857177 rs1402465169	480	W>C		No	ClinGen gnomAD
CA369857173 rs772820202	480	W>S		No	ClinGen ExAC gnomAD
rs1467181569 CA369857191	482	G>V		No	ClinGen gnomAD
CA4566976 rs760496486	484	A>T		No	ClinGen ExAC TOPMed gnomAD
rs765397506 CA4566977	484	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4566980 rs542813855	485	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs542813855 CA4566979	485	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369857212 rs1212951630	486	K>R		No	ClinGen TOPMed
CA369857219 rs1353205835	487	G>D		No	ClinGen gnomAD
rs1335347961 CA369857217	487	G>R		No	ClinGen TOPMed
rs1274997374 CA369857223	488	T>P		No	ClinGen TOPMed
CA4566983 rs200536042	489	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4566984 rs528382385	495	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs200180178 CA4566986	498	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1212722967 CA369857317	499	V>M		No	ClinGen gnomAD
rs267601416 CA169072636	500	A>V		No	ClinGen Ensembl
CA369857452 rs1348823372	502	A>S		No	ClinGen gnomAD
rs1311885654 CA369857474	503	V>A		No	ClinGen TOPMed
rs774609359 CA4567018	503	V>M		No	ClinGen ExAC gnomAD
rs1435006114 CA369857487	504	K>M		No	ClinGen TOPMed
rs1453392868 CA369857498	505	I>F		No	ClinGen gnomAD
CA4567019 rs201216025	506	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA369858188 rs1159051398	510	M>V		No	ClinGen gnomAD
CA369858199 rs1381875625	511	G>D		No	ClinGen gnomAD
CA4567022 rs374247011	512	T>M		No	ClinGen ESP ExAC gnomAD
CA369858209 rs1390888411	513	V>L		No	ClinGen gnomAD
rs767000481 CA4567023	514	M>I		No	ClinGen ExAC gnomAD
rs1323257260 CA369858224	515	A>V		No	ClinGen gnomAD
CA369858235 rs1478834946 COSM369000	517	R>G	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs754218088 CA4567024	518	V>L		No	ClinGen ExAC gnomAD
rs1486096148 CA369858250	519	K>M		No	ClinGen TOPMed
rs765572803 CA4567026	520	A>G		No	ClinGen ExAC gnomAD
CA4567025 rs759971615	520	A>T		No	ClinGen ExAC TOPMed gnomAD
rs765572803 COSM1087304 CA369858256	520	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1266243388 CA369858258	521	T>A		No	ClinGen gnomAD
rs1221067300 CA369858262	521	T>I		No	ClinGen TOPMed
rs1211937328 CA369858279	524	Y>C		No	ClinGen gnomAD
rs777204980 CA4567029	525	G>D		No	ClinGen ExAC gnomAD
rs757144684 CA4567031	527	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1191569092 CA369858302	528	T>A		No	ClinGen gnomAD
CA369858308 rs1417058616	529	G>S		No	ClinGen TOPMed gnomAD
CA4567035 rs141787079	530	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs755905128 CA4567034	530	R>W		No	ClinGen ExAC gnomAD
CA4567036 rs150600360	531	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4567037 rs772199658	532	Q>*		No	ClinGen ExAC gnomAD
CA369858330 rs1170041891	533	S>C		No	ClinGen gnomAD
CA4567038 rs773361105	533	S>N		No	ClinGen ExAC TOPMed gnomAD
rs771518197 CA4567040 COSM206090	535	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs777260943 CA4567041	536	Q>*		No	ClinGen ExAC gnomAD
rs760005221 CA4567042	536	Q>R		No	ClinGen ExAC gnomAD
CA369858364 rs1459846323	538	L>Q		No	ClinGen TOPMed
rs765617719 CA4567043	539	G>E		No	ClinGen ExAC gnomAD
CA169073990 rs267601417	540	R>K		No	ClinGen Ensembl
CA4567044 rs139628271	542	F>L		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA169073999 rs901787657	543	R>Q		No	ClinGen TOPMed gnomAD
COSM1087305 rs762597577 CA4567045	543	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1252970081 CA369858397	544	K>R		No	ClinGen gnomAD
rs763764642 CA4567046	545	A>S		No	ClinGen ExAC gnomAD
rs751020678 CA4567047	545	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4567049 rs767053191	549	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs142781987 CA4567048 COSM3261147	549	R>W	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs901650506 CA169074131	550	V>F		No	ClinGen Ensembl
CA369858455 rs1433210999	552	C>Y		No	ClinGen gnomAD
CA369858471 rs1361431855	554	D>N		No	ClinGen gnomAD
CA369858478 rs1433085604	555	E>Q		No	ClinGen gnomAD
CA369858491 rs1235185611	556	Y>*		No	ClinGen TOPMed
rs1324565927 CA369858505	558	V>A		No	ClinGen TOPMed
CA169074137 rs181342641	559	V>A		No	ClinGen 1000Genomes gnomAD
CA169074146 rs185916883	560	S>A		No	ClinGen 1000Genomes gnomAD
rs868213040 CA169074151	560	S>F		No	ClinGen gnomAD
rs868213040 COSM371481 CA369858514	560	S>Y	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM1673673 CA4567072 rs754800735	561	L>F	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs751831161 CA369858522	562	E>*		No	ClinGen ExAC gnomAD
rs751831161 CA4567074	562	E>K		No	ClinGen ExAC gnomAD
rs757563980 CA4567075	563	H>Y		No	ClinGen ExAC gnomAD
COSM109653 rs148554851 CA169074161	564	E>K	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA4567076 rs781261966	565	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1584905710 CA369858557	567	V>G		No	ClinGen Ensembl
rs1255472514 CA369858552	567	V>M		No	ClinGen gnomAD
rs770284805 CA369858559	568	L>V		No	ClinGen ExAC gnomAD
CA369858568 rs1584905718	569	V>G		No	ClinGen Ensembl
CA169074178 rs1022270557	570	V>I		No	ClinGen TOPMed gnomAD
rs1157174331 CA369858581	572	S>G		No	ClinGen gnomAD
rs1248252681 CA369858583	572	S>N		No	ClinGen TOPMed gnomAD
CA4567082 rs774755572	580	P>L		No	ClinGen ExAC gnomAD
rs753867883 CA4567135	585	S>I		No	ClinGen ExAC gnomAD
CA369860393 rs1174617297	586	F>L		No	ClinGen gnomAD
rs368760176 CA4567138	587	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1362731600 CA369860410	588	A>V		No	ClinGen gnomAD
rs1382755117 CA369860413	589	A>S		No	ClinGen gnomAD
CA369860445 rs1227421489	593	M>I		No	ClinGen gnomAD
CA369860443 rs1324574005	593	M>T		No	ClinGen gnomAD
rs747428331 CA4567142	595	G>S		No	ClinGen ExAC TOPMed gnomAD
CA169076184 rs1003496315	600	S>F		No	ClinGen Ensembl
CA169076188 rs1014841213	601	P>S		No	ClinGen Ensembl
CA4567146 rs145168353	602	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4567145 COSM32897 VAR_036304 rs145168353	602	R>Q	found in a colorectal cancer sample; somatic mutation pancreas large_intestine central_nervous_system [UniProt, Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs780967781 CA4567144	602	R>W		No	ClinGen ExAC TOPMed gnomAD
rs775196686 CA4567147	603	P>L		No	ClinGen ExAC gnomAD
CA4567149 rs768642800	605	Q>R		No	ClinGen ExAC gnomAD
rs773977187 CA4567150	606	H>Y		No	ClinGen ExAC gnomAD
CA4567168 rs551086550	611	I>V		No	ClinGen 1000Genomes ExAC gnomAD
COSM3394611 CA4567169 rs768430429	612	R>C	pancreas central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs930680433 CA169076344	612	R>H		No	ClinGen TOPMed
rs1366073500 CA369860608	616	I>V		No	ClinGen TOPMed
rs1300762575 CA369860673	623	V>L		No	ClinGen gnomAD
rs748078803 CA369860695	625	S>A		No	ClinGen ExAC gnomAD
rs748078803 CA4567171	625	S>T		No	ClinGen ExAC gnomAD
CA4567174 rs759701004	627	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs771851939 CA4567172	627	R>W		No	ClinGen ExAC gnomAD
rs371971953 CA4567176	628	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs570681394 CA4567175	628	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA369860745 rs1584909171	629	K>E		No	ClinGen Ensembl
CA4567177 rs763061804	629	K>R		No	ClinGen ExAC TOPMed gnomAD
rs888255926 CA169076361	630	R>W		No	ClinGen TOPMed gnomAD
rs1167144829 CA369860770	631	K>E		No	ClinGen TOPMed gnomAD
CA369860795 rs1479355486	632	E>D		No	ClinGen TOPMed
CA369860863 rs1354881727	637	D>G		No	ClinGen gnomAD
CA4567181 rs752095539	638	S>G		No	ClinGen ExAC TOPMed gnomAD
CA369860897 rs1206917965	640	G>R		No	ClinGen TOPMed
CA169076388 rs1006832048	641	A>S		No	ClinGen TOPMed
rs556539002 CA169076391	643	G>S		No	ClinGen 1000Genomes gnomAD
CA369860958 rs1354865199	646	R>G		No	ClinGen gnomAD
rs1228246606 CA369860962	646	R>K		No	ClinGen TOPMed gnomAD
rs768161653 CA4567201	646	R>S		No	ClinGen ExAC gnomAD
rs773671835 CA4567202	648	C>G		No	ClinGen ExAC gnomAD
CA4567203 rs761088789	649	V>A		No	ClinGen ExAC gnomAD
CA4567207 rs764734274	653	G>S		No	ClinGen ExAC gnomAD
rs758278933 CA4567209	654	S>C		No	ClinGen ExAC gnomAD
rs777660351 CA4567210	655	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA369861079 rs1347479546	655	R>W		No	ClinGen gnomAD
rs1584909331 CA369861091	657	Y>S		No	ClinGen Ensembl
rs757064068 CA4567212	659	H>N		No	ClinGen ExAC
rs1236815027 CA369861121	661	C>S		No	ClinGen gnomAD
rs1344517843 CA369861125 COSM1087308	662	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA369861140 rs1205803315	664	A>P		No	ClinGen gnomAD
rs749461448 CA4567214	665	R>C		No	ClinGen ExAC gnomAD
VAR_061377 COSM3394612 CA4567215 rs7792133 RCV000956546	665	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA369861155 rs772317436	667	V>L		No	ClinGen ExAC gnomAD
rs772317436 CA4567218	667	V>M		No	ClinGen ExAC gnomAD
rs1299211805 CA369861160	668	D>N		No	ClinGen TOPMed
rs1454526769 CA369861173	669	T>I		No	ClinGen gnomAD
CA369861176 rs766759667	670	R>L		No	ClinGen ExAC TOPMed gnomAD
rs766759667 CA4567221	670	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4567220 rs761321500	670	R>W		No	ClinGen ExAC TOPMed gnomAD
CA369861184 rs1409529596	672	E>*		No	ClinGen gnomAD
rs927699195 CA369861212	676	G>E		No	ClinGen TOPMed gnomAD
CA169076481 COSM3950187 rs927699195	676	G>V	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA369861211 rs1458506311	676	G>W		No	ClinGen Ensembl
rs757884791 CA4567226	678	R>Q		No	ClinGen ExAC gnomAD
rs752392123 CA4567225	678	R>W		No	ClinGen ExAC gnomAD
CA369861237 rs1330743984	681	Q>*		No	ClinGen gnomAD
CA4567227 rs763654417	681	Q>R		No	ClinGen ExAC gnomAD
CA4567228 rs751496128	684	Q>*		No	ClinGen ExAC gnomAD
CA4567230 rs780983523	685	G>D		No	ClinGen ExAC gnomAD
CA4567229 rs757148244	685	G>S		No	ClinGen ExAC gnomAD
CA4567232 rs755188330	686	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1450752209 CA369861271	687	E>K		No	ClinGen TOPMed gnomAD
CA169076494 rs1039664670	689	C>R		No	ClinGen TOPMed
CA4567235 rs772264138	690	G>S		No	ClinGen ExAC gnomAD
CA369861298 rs1419222889	691	Q>*		No	ClinGen gnomAD
rs1272957878 CA369861301	691	Q>L		No	ClinGen TOPMed
CA169076500 rs933891344	693	E>K		No	ClinGen TOPMed gnomAD
CA369861323 rs1390448535	694	A>G		No	ClinGen gnomAD
rs771351659 CA4567238	696	R>*		No	ClinGen ExAC gnomAD
rs372783097 CA369861335	696	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs372783097 CA4567239	696	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA369861345 rs1348815575	698	W>*		No	ClinGen gnomAD
CA169076507 rs747644511	702	A>S		No	ClinGen Ensembl
CA169076508 rs563391462	703	F>L		No	ClinGen 1000Genomes
rs1409311991 CA369861389	704	Q>H		No	ClinGen gnomAD
rs1584910536 CA369861737	706	A>T		No	ClinGen Ensembl
CA369861751 rs1584910540	707	C>R		No	ClinGen Ensembl
CA369861786 rs1584910543	709	T>I		No	ClinGen Ensembl
CA4567266 rs767103114	712	V>M		No	ClinGen ExAC gnomAD
CA4567267 rs750314400	713	G>R		No	ClinGen ExAC gnomAD
rs922149871 CA169077089	714	E>Q		No	ClinGen TOPMed gnomAD
CA369861864 rs766207490	715	D>G		No	ClinGen ExAC gnomAD
rs760730876 CA4567268	715	D>N		No	ClinGen ExAC gnomAD
CA4567269 rs766207490	715	D>V		No	ClinGen ExAC gnomAD
CA369861878 rs1362732008	716	A>D		No	ClinGen gnomAD
rs758641083 CA4567271	717	K>E		No	ClinGen ExAC gnomAD
rs1313545763 CA369861898	718	A>T		No	ClinGen gnomAD
rs369675314 CA4567272	719	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs751844492 CA4567273	720	A>V		No	ClinGen ExAC gnomAD
CA4567274 rs757274860	721	R>*		No	ClinGen ExAC TOPMed gnomAD
CA169077105 rs955023546	722	D>N		No	ClinGen TOPMed gnomAD
CA4567275 rs200106471	724	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA4567276 rs746296632	725	S>N		No	ClinGen ExAC gnomAD
rs780348398 CA4567278	727	K>*		No	ClinGen ExAC gnomAD
rs749685830 CA4567279	727	K>R		No	ClinGen ExAC gnomAD
rs374396706 CA4567281	728	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1386304113 CA369862005	729	S>N		No	ClinGen gnomAD
rs1386304113 CA369862006	729	S>T		No	ClinGen gnomAD
CA369862036 rs1420652094	732	R>H		No	ClinGen TOPMed
rs1293830431 CA369862032	732	R>S		No	ClinGen gnomAD
rs771478172 CA4567283	733	Q>E		No	ClinGen ExAC gnomAD
CA369862047 rs1259178453	733	Q>P		No	ClinGen gnomAD
rs772782036 CA4567284	734	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1300072497 CA369862066	734	R>S		No	ClinGen gnomAD
CA369862078 rs1316950927	735	Y>C		No	ClinGen TOPMed gnomAD
rs544887797 CA369862094	736	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs544887797 CA4567285	736	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1257489292 CA369862087	736	R>W		No	ClinGen TOPMed
rs141288865 CA4567286	738	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369862120 rs759370350	738	S>R		No	ClinGen ExAC TOPMed gnomAD
CA4567287 rs141288865	738	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs891520877 CA169077141	739	A>S		No	ClinGen Ensembl
CA169077151 rs1010488013	741	A>S		No	ClinGen TOPMed gnomAD
COSM1741653 rs765169676 CA4567289	742	E>K	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA369862175 rs1297454645	743	G>S		No	ClinGen TOPMed
CA369862205 rs1251398570	745	Q>L		No	ClinGen gnomAD
CA4567319 rs370699534	749	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1471729204 CA369862322	751	I>F		No	ClinGen gnomAD
CA4567323 rs769796380	753	V>E		No	ClinGen ExAC TOPMed gnomAD
rs769796380 CA169077256	753	V>G		No	ClinGen ExAC TOPMed gnomAD
CA4567322 rs745744386	753	V>L		No	ClinGen ExAC TOPMed gnomAD
CA369862354 rs745744386	753	V>M		No	ClinGen ExAC TOPMed gnomAD
CA4567325 rs762779648	755	R>K		No	ClinGen ExAC gnomAD
CA169077270 rs956971971	756	R>Q		No	ClinGen TOPMed
CA4567327 rs773409991	757	K>N		No	ClinGen ExAC TOPMed gnomAD
CA369862425 rs1357942550	758	M>I		No	ClinGen gnomAD
CA369862476 rs1348422523	762	T>A		No	ClinGen TOPMed
CA4567328 rs138716215	764	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1039287196 CA169077283	764	R>H		No	ClinGen Ensembl
rs1226529063 CA369862565	768	N>K		No	ClinGen gnomAD
CA4567329 rs766379749	769	L>V		No	ClinGen ExAC gnomAD
CA369862595 rs1345924925	771	S>C		No	ClinGen gnomAD
CA369862641 rs753925525	774	S>C		No	ClinGen ExAC TOPMed gnomAD
CA4567330 rs753925525	774	S>F		No	ClinGen ExAC TOPMed gnomAD
CA369862715 rs1395381796	776	R>K		No	ClinGen TOPMed
CA369862733 rs1563229716	777	A>G		No	ClinGen Ensembl
CA369862728 rs1211361701	777	A>S		No	ClinGen gnomAD
rs200183107 CA4567363	781	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1182280759 CA369862787	782	R>C		No	ClinGen gnomAD
CA369862794 rs1253323134 COSM1217597	782	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs749182113 CA4567366	786	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1459799708 CA369862843	787	G>S		No	ClinGen gnomAD
CA169077423 rs56331996	787	G>V		No	ClinGen Ensembl
rs1161757319 CA369862865	788	Q>H		No	ClinGen gnomAD
rs1475503550 CA369862892	790	G>E		No	ClinGen TOPMed
rs754884137 CA4567367	791	L>M		No	ClinGen ExAC gnomAD
CA4567370 rs368180942	795	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369862958 rs368180942	795	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747966273 CA4567369	795	P>T		No	ClinGen ExAC gnomAD
CA169077434 rs1010021309	796	G>A		No	ClinGen TOPMed
rs1342794424 CA369862974	797	D>N		No	ClinGen TOPMed gnomAD
rs1004830721 CA169077435	798	H>Y		No	ClinGen TOPMed
rs1042826236 CA169077436	800	G>S		No	ClinGen gnomAD
rs200385697 CA169077438	801	V>A		No	ClinGen 1000Genomes
CA369863108 rs1205418320	806	R>Q		No	ClinGen gnomAD
rs1276221803 CA369863114	807	P>H		No	ClinGen gnomAD
rs1257492468 CA369863160	811	E>G		No	ClinGen gnomAD
CA369863175 rs769910730	812	A>E		No	ClinGen ExAC TOPMed gnomAD
rs769910730 CA4567373	812	A>V		No	ClinGen ExAC TOPMed gnomAD
rs775448385 CA4567374	815	S>G		No	ClinGen ExAC gnomAD
rs1450367127 CA369863219	816	R>C		No	ClinGen gnomAD
CA369863221 rs1170693777	816	R>H		No	ClinGen gnomAD
CA369863230 rs1429219501	817	V>L		No	ClinGen TOPMed gnomAD
CA369863231 rs1429219501	817	V>M		No	ClinGen TOPMed gnomAD
rs764734300 CA4567376	819	D>E		No	ClinGen ExAC gnomAD
CA369863256 rs1402836375	819	D>Y		No	ClinGen gnomAD
rs1332019713 CA369863276	820	P>L		No	ClinGen gnomAD
rs1228809326 CA369863283	821	P>Q		No	ClinGen gnomAD
CA369863281 rs1466867370	821	P>S		No	ClinGen TOPMed
rs762247400 CA4567378	822	A>V		No	ClinGen ExAC gnomAD
CA4567380 rs750087386	823	P>S		No	ClinGen ExAC gnomAD
rs747502487 CA4567381	824	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1461865068 CA369863310	824	T>P		No	ClinGen TOPMed
CA369863348 rs1199215443	826	P>L		No	ClinGen gnomAD
rs3918232 VAR_031219 CA4567382	827	V>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA369863397 rs1388554868	830	E>D		No	ClinGen TOPMed gnomAD
rs1179426313 CA369863453	834	K>R		No	ClinGen TOPMed
rs1467556497 CA369863484	836	S>N		No	ClinGen gnomAD
CA4567399 rs767928670	841	P>A		No	ClinGen ExAC TOPMed gnomAD
rs760324893 CA4567401	841	P>L		No	ClinGen ExAC gnomAD
CA4567400 rs767928670	841	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1222727029 CA369863958	842	P>A		No	ClinGen gnomAD
rs920415717 CA369863961	842	P>L		No	ClinGen TOPMed gnomAD
rs920415717 CA169079076	842	P>R		No	ClinGen TOPMed gnomAD
rs1297018716 CA369863964	843	G>A		No	ClinGen TOPMed
rs753566332 CA369863962	843	G>C		No	ClinGen ExAC TOPMed gnomAD
rs753566332 CA4567403	843	G>R		No	ClinGen ExAC TOPMed gnomAD
rs753566332 CA169079085	843	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1050353183 CA169079093	844	W>C		No	ClinGen TOPMed
CA369863978 rs759020736	845	V>A		No	ClinGen ExAC gnomAD
CA4567404 rs759020736	845	V>G		No	ClinGen ExAC gnomAD
rs1221922618 CA369863975	845	V>M		No	ClinGen gnomAD
CA369863981 rs369652420	846	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4567406 rs369652420	846	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA369863980 rs1184231858 COSM1449237	846	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA369863988 rs1584911585	847	D>A		No	ClinGen Ensembl
rs758334142 CA4567407	848	P>R		No	ClinGen ExAC gnomAD
CA4567409 rs751345639	849	R>Q		No	ClinGen ExAC gnomAD
CA4567408 rs777579370	849	R>W		No	ClinGen ExAC gnomAD
rs1171295290 CA369864005	851	P>A		No	ClinGen TOPMed
CA4567410 rs757119361	852	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4567411 rs757119361	852	P>R		No	ClinGen ExAC TOPMed gnomAD
CA169079124 rs1010617890	853	C>Y		No	ClinGen TOPMed
RCV000910855 rs148919189 CA4567413	854	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA169079126 rs1044304514	854	T>P		No	ClinGen TOPMed
rs1315260887 CA369864026	855	L>Q		No	ClinGen gnomAD
CA4567415 rs145765422	855	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369864030 rs376431860	856	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs376431860 CA4567417	856	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs201579252 RCV000897435 CA4567418	856	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs771374633 CA4567419	857	Q>R		No	ClinGen ExAC gnomAD
CA169079137 rs895691369	860	T>I		No	ClinGen Ensembl
rs759248385 CA4567422	861	F>L		No	ClinGen ExAC gnomAD
CA169079151 rs949907931	862	F>L		No	ClinGen TOPMed
CA4567424 rs752214364	866	T>I		No	ClinGen ExAC TOPMed gnomAD
CA4567423 rs764658454	866	T>P		No	ClinGen ExAC TOPMed gnomAD
rs762840310 CA4567425	867	S>T		No	ClinGen ExAC gnomAD
CA4567426 rs763909338	868	P>L		No	ClinGen ExAC
rs1162507771 CA369864102	868	P>S		No	ClinGen TOPMed gnomAD
rs200630478 CA369864114	870	S>N		No	ClinGen ExAC gnomAD
rs1390347668 CA369864111	870	S>R		No	ClinGen gnomAD
rs200630478 CA4567427	870	S>T		No	ClinGen ExAC gnomAD
CA4567429 rs201601172	875	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4567430 rs201601172 COSM1217596	875	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
COSM1087309 rs866146324 CA169079188	875	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs113711626 CA169079199	876	L>P		No	ClinGen Ensembl
CA369864175 rs1321445146	880	L>W		No	ClinGen gnomAD
CA4567433 rs200507709	881	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772233091 CA4567434	883	E>G		No	ClinGen ExAC gnomAD
CA369864191 rs1344503538	883	E>K		No	ClinGen gnomAD
CA4567435 rs778119632	884	P>A		No	ClinGen ExAC TOPMed gnomAD
rs778119632 CA369864199	884	P>S		No	ClinGen ExAC TOPMed gnomAD
CA369864205 rs3918201	885	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4567436 RCV000975171 rs3918201 VAR_031220	885	R>M		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA369864206 rs3918201	885	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369864238 rs1239035747	889	E>D		No	ClinGen gnomAD
CA169079228 rs1029473725	889	E>K		No	ClinGen Ensembl
rs771191823 CA4567437	890	L>P		No	ClinGen ExAC gnomAD
CA4567439 rs142910826	891	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs777055372 CA4567438	891	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA369864262 rs1165723490	894	S>G		No	ClinGen gnomAD
CA369864291 rs1203117633 COSM1549251	896	D>Y	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1283127109 CA369864300	897	P>H		No	ClinGen gnomAD
CA369864304 rs1359984100	898	R>*		No	ClinGen TOPMed
rs749040665 CA4567461	898	R>P		No	ClinGen ExAC TOPMed gnomAD
CA4567460 rs749040665	898	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4567463 rs182213442	899	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs182213442 CA169079413	899	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4567464 rs138139729	899	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA169079425 rs143521490	900	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs760523881 CA4567466	902	E>G		No	ClinGen ExAC gnomAD
rs1407293826 CA369864354	905	W>*		No	ClinGen gnomAD
CA4567467 rs150546625	907	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA369864366 rs150546625	907	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4567468 rs752959128	907	R>H		No	ClinGen ExAC gnomAD
CA369864388 rs1236633438	910	T>M		No	ClinGen gnomAD
CA369864387 rs1236633438	910	T>R		No	ClinGen gnomAD
CA169079446 rs967532969	914	V>A		No	ClinGen Ensembl
CA369864411 rs967532969	914	V>G		No	ClinGen Ensembl
CA169079450 rs1000491396	916	E>K		No	ClinGen Ensembl
CA369864426 rs1219536571	917	Q>*		No	ClinGen TOPMed
CA369864429 rs1205198892	917	Q>R		No	ClinGen gnomAD
CA4567473 rs781651166	918	F>C		No	ClinGen ExAC TOPMed gnomAD
CA4567474 rs370602493	919	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4567475 rs370602493	919	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA169079460 rs370602493	919	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1369383540 CA369864447	920	S>L		No	ClinGen TOPMed gnomAD
rs74962429 CA169079469	921	V>G		No	ClinGen Ensembl
CA369864448 rs1161928654	921	V>M		No	ClinGen gnomAD
rs1384801703 CA369864453	922	A>T		No	ClinGen gnomAD
CA4567478 rs768378940	922	A>V		No	ClinGen ExAC gnomAD
CA369864460 rs1175657220	923	L>Q		No	ClinGen TOPMed
CA369864469 rs1415364879	925	A>T		No	ClinGen TOPMed
rs1340821438 CA369864487	928	L>F		No	ClinGen gnomAD
CA369864494 rs1192062946	929	L>F		No	ClinGen TOPMed
CA4567481 rs747661055	930	T>N		No	ClinGen ExAC gnomAD
rs1584912233 CA369864500	930	T>P		No	ClinGen Ensembl
CA369864507 rs1477816966	931	Q>R		No	ClinGen TOPMed
CA369864549 rs770778320	938	R>L		No	ClinGen ExAC gnomAD
rs770778320 CA4567485	938	R>Q		No	ClinGen ExAC gnomAD
rs760761084 CA4567484	938	R>W		No	ClinGen ExAC
CA4567488 rs764405857	939	Y>*		No	ClinGen ExAC gnomAD
rs763034207 CA4567487	939	Y>C		No	ClinGen ExAC TOPMed
CA4567489 rs144452379	941	S>L		No	ClinGen ESP ExAC TOPMed
rs971518696 CA169079510	942	V>I		No	ClinGen Ensembl
CA169079513 rs61747096	944	S>L		No	ClinGen gnomAD
rs367558109 CA4567490	944	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs750866232 CA4567492	945	A>T		No	ClinGen ExAC gnomAD
rs1371374910 CA369864594	946	P>R		No	ClinGen gnomAD
rs1255981361 CA369864597	947	S>G		No	ClinGen TOPMed
rs780348248 CA4567494	949	H>Y		No	ClinGen ExAC gnomAD
CA369864625 rs754262253	951	G>R		No	ClinGen ExAC gnomAD
rs754262253 CA4567495	951	G>R		No	ClinGen ExAC gnomAD
rs755336683 CA4567496	952	E>G		No	ClinGen ExAC gnomAD
CA369864647 rs1563231588	954	H>R		No	ClinGen Ensembl
rs747812771 CA4567498	957	V>I		No	ClinGen ExAC TOPMed gnomAD
CA369864686 rs1297162757	961	A>P		No	ClinGen gnomAD
rs777422990 CA4567500	963	R>G		No	ClinGen ExAC gnomAD
rs746881806 CA4567501	964	T>P		No	ClinGen ExAC TOPMed gnomAD
CA4567502 rs771011352	964	T>S		No	ClinGen ExAC TOPMed gnomAD
CA4567503 rs575721087	966	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs748321553 CA4567526	966	D>V		No	ClinGen ExAC gnomAD
rs1446451253 CA369864746	969	G>S		No	ClinGen TOPMed
CA4567528 rs773464949	970	P>S		No	ClinGen ExAC gnomAD
rs766425571 CA4567530	973	Y>F		No	ClinGen ExAC gnomAD
CA169079576 rs267601418	974	G>E		No	ClinGen Ensembl
rs777190157 CA4567531	976	C>S		No	ClinGen ExAC TOPMed gnomAD
rs759964507 CA4567532	979	W>*		No	ClinGen ExAC gnomAD
rs3918234 CA4567533 VAR_031221	982	Q>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4567534 rs753130829	984	K>M		No	ClinGen ExAC TOPMed gnomAD
rs776830535 CA169079591	985	P>L		No	ClinGen gnomAD
rs563005534 CA4567537	986	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4567538 rs756826613	987	D>H		No	ClinGen ExAC gnomAD
rs756826613 CA369864858	987	D>N		No	ClinGen ExAC gnomAD
rs1480913019 CA369864881	990	P>L		No	ClinGen gnomAD
rs780575923 CA4567539	990	P>S		No	ClinGen ExAC gnomAD
rs6947833 CA169079619	991	C>S		No	ClinGen Ensembl
rs1418195710 CA369864907	994	R>P		No	ClinGen TOPMed gnomAD
CA369864906 rs1418195710	994	R>Q		No	ClinGen TOPMed gnomAD
rs1488157449 CA369864909	995	G>R		No	ClinGen TOPMed
rs754762656 CA4567563	996	A>V		No	ClinGen ExAC gnomAD
CA369864932 rs1406793210	997	P>T		No	ClinGen gnomAD
rs151262456 CA4567566	1000	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4567565 rs747172515	1000	R>W		No	ClinGen ExAC TOPMed gnomAD
CA369864964 rs1563233862	1002	P>L		No	ClinGen Ensembl
CA369864967 rs1490378693	1003	P>S		No	ClinGen gnomAD
rs769964091 CA4567570	1004	D>N		No	ClinGen ExAC TOPMed gnomAD
CA4567571 rs533251778	1005	P>H		No	ClinGen 1000Genomes ExAC gnomAD
CA4567572 rs746872470	1006	S>T		No	ClinGen ExAC gnomAD
rs769085172 CA4567573	1008	P>S		No	ClinGen ExAC gnomAD
CA369865034 rs1161732781	1013	G>V		No	ClinGen gnomAD
rs1363710221 CA369865041	1015	G>S		No	ClinGen gnomAD
CA4567576 rs767050243	1018	I>T		No	ClinGen ExAC gnomAD
CA369865069 rs1352375960	1019	A>G		No	ClinGen TOPMed
CA169080301 rs915983885	1020	P>A		No	ClinGen gnomAD
CA369865072 rs915983885	1020	P>S		No	ClinGen gnomAD
CA4567578 rs368502694	1022	R>P		No	ClinGen ESP ExAC gnomAD
CA4567577 rs368502694	1022	R>Q		No	ClinGen ESP ExAC gnomAD
rs140510569 CA169080303	1022	R>W		No	ClinGen ESP gnomAD
rs1308080393 CA369865101	1025	W>R		No	ClinGen gnomAD
rs1563234049 CA369865127	1028	R>Q		No	ClinGen Ensembl
rs981926770 CA169080314	1029	L>M		No	ClinGen Ensembl
rs1288950722 CA369865132	1029	L>P		No	ClinGen TOPMed gnomAD
CA369865136 rs1395033620	1030	H>R		No	ClinGen Ensembl
rs867331282 CA169080318	1030	H>Y		No	ClinGen TOPMed gnomAD
CA4567582 rs778626135	1032	I>S		No	ClinGen ExAC TOPMed gnomAD
rs778626135 CA369865153	1032	I>T		No	ClinGen ExAC TOPMed gnomAD
CA369865193 rs1325241800	1036	G>E		No	ClinGen gnomAD
CA369865215 rs1584914715	1040	T>P		No	ClinGen Ensembl
CA369865222 rs1430716271	1041	P>A		No	ClinGen TOPMed
rs780242277 CA4567606	1047	G>A		No	ClinGen ExAC gnomAD
CA4567607 rs749352041	1048	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1474354751 CA369865302	1049	R>L		No	ClinGen TOPMed gnomAD
CA4567608 rs755161541	1050	C>W		No	ClinGen ExAC gnomAD
rs1207037422 CA369865349	1053	L>V		No	ClinGen gnomAD
rs748758829 CA4567610	1055	H>R		No	ClinGen ExAC gnomAD
CA169080713 rs985758587	1056	L>P		No	ClinGen Ensembl
rs1487295383 CA369865415	1058	R>H		No	ClinGen gnomAD
rs3730011 CA4567613	1060	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4567614 rs770598530	1063	N>H		No	ClinGen ExAC gnomAD
rs1173680199 CA369865520	1066	Q>K		No	ClinGen gnomAD
CA4567618 rs759024532	1067	R>L		No	ClinGen ExAC gnomAD
CA4567617 rs759024532	1067	R>P		No	ClinGen ExAC gnomAD
CA4567620 rs762963828	1068	G>R		No	ClinGen ExAC gnomAD
rs751402594 CA4567622	1069	V>A		No	ClinGen ExAC TOPMed gnomAD
rs147022606 CA169080737	1071	G>D		No	ClinGen ESP
CA369865580 rs1343789320	1071	G>S		No	ClinGen TOPMed
CA4567623 rs757159310	1075	T>A		No	ClinGen ExAC gnomAD
CA369865643 rs1244924265	1076	A>D		No	ClinGen TOPMed
rs1317783291 CA369865637	1076	A>S		No	ClinGen gnomAD
CA4567628 rs748543095	1079	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA369865677 rs1259133308	1079	R>W		No	ClinGen gnomAD
rs1223232866 CA369865683	1080	E>K		No	ClinGen gnomAD
rs1334051259 CA369865702	1081	P>T		No	ClinGen TOPMed
CA369865711 rs1307560810	1082	D>N		No	ClinGen TOPMed
rs1410531393 CA369865730	1083	N>D		No	ClinGen TOPMed
CA4567629 rs758963869	1083	N>K		No	ClinGen ExAC gnomAD
CA369865750 rs1490819210	1084	P>L		No	ClinGen gnomAD
rs1471524887 CA369865859	1088	V>M		No	ClinGen TOPMed gnomAD
rs769519431 CA4567654	1090	D>N		No	ClinGen ExAC gnomAD
CA369865886 rs769519431	1090	D>Y		No	ClinGen ExAC gnomAD
CA4567655 rs779614677	1091	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1470485321 CA369865926	1093	R>K		No	ClinGen gnomAD
rs748809780 CA4567656	1094	T>M		No	ClinGen ExAC TOPMed gnomAD
CA4567659 rs761850720	1098	A>P		No	ClinGen ExAC TOPMed gnomAD
rs761850720 CA4567660	1098	A>T		No	ClinGen ExAC TOPMed gnomAD
rs773162216 CA169080954	1099	E>K		No	ClinGen ExAC TOPMed gnomAD
rs773162216 CA4567661	1099	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA369866024 rs1563236920	1101	H>N		No	ClinGen Ensembl
CA369866043 rs1317099509	1102	R>C		No	ClinGen gnomAD
rs765463421 CA4567663	1103	V>L		No	ClinGen ExAC TOPMed gnomAD
rs765463421 CA369866051	1103	V>M		No	ClinGen ExAC TOPMed gnomAD
CA369866075 rs1486533845	1105	C>F		No	ClinGen TOPMed gnomAD
CA4567667 rs751995387 COSM351567	1107	E>D	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1563237031 CA369866087	1107	E>G		No	ClinGen Ensembl
rs1046009973 CA169080972	1107	E>K		No	ClinGen TOPMed gnomAD
CA369866091 rs1414087067	1108	R>Q		No	ClinGen gnomAD
COSM1449241 rs757784663 CA4567668	1108	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs750755652 CA4567670	1110	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA369866111 rs1296270626	1111	M>R		No	ClinGen gnomAD
rs550098275 CA4567671	1111	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1339689412 CA369866116	1112	F>L		No	ClinGen gnomAD
CA369866120 rs1405391710	1112	F>S		No	ClinGen gnomAD
CA169080995 rs746892263	1115	G>S		No	ClinGen Ensembl
rs748046813 CA4567676	1120	A>V		No	ClinGen ExAC gnomAD
rs1213754023 CA369866177	1121	T>A		No	ClinGen gnomAD
rs772164171 CA4567677	1123	V>A		No	ClinGen ExAC gnomAD
CA369866190 rs1263176130	1123	V>I		No	ClinGen gnomAD
rs773318406 CA369866196	1124	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1477874637 CA369866204	1125	Q>R		No	ClinGen gnomAD
CA4567680 rs760492774	1126	T>A		No	ClinGen ExAC gnomAD
CA4567681 rs770689076	1126	T>S		No	ClinGen ExAC gnomAD
rs1269540668 CA369866216	1127	V>A		No	ClinGen TOPMed
CA369866213 rs1238557283	1127	V>L		No	ClinGen TOPMed gnomAD
CA369866214 rs1238557283 COSM1449242	1127	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA4567685 rs774447524	1129	R>C		No	ClinGen ExAC gnomAD
CA4567686 rs761923015	1129	R>H		No	ClinGen ExAC gnomAD
CA4567687 rs767989742	1130	I>T		No	ClinGen ExAC TOPMed gnomAD
CA369866241 rs1279786657	1132	A>T		No	ClinGen gnomAD
rs1388242789 CA369866248	1133	T>A		No	ClinGen TOPMed
CA369866252 rs1237414346	1133	T>M		No	ClinGen gnomAD
rs1213010805 CA369866257	1134	E>G		No	ClinGen gnomAD
RCV000921140 rs566042414 CA4567690	1135	G>S		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA369866266 rs1451394997	1136	D>N		No	ClinGen gnomAD
CA4567695 rs758026328	1140	D>E		No	ClinGen ExAC gnomAD
CA4567693 rs778523382	1140	D>H		No	ClinGen ExAC gnomAD
CA4567694 rs747627829	1140	D>V		No	ClinGen ExAC gnomAD
CA169081096 rs963828232	1141	E>D		No	ClinGen TOPMed gnomAD
CA369866301 rs1164935920	1141	E>K		No	ClinGen gnomAD
CA369866314 rs1404613427	1143	G>S		No	ClinGen gnomAD
rs1402075315 CA369866320	1144	D>N		No	ClinGen gnomAD
CA169081097 rs1029528279	1145	V>I		No	ClinGen TOPMed gnomAD
CA369866340 rs1246261875	1147	G>S		No	ClinGen gnomAD
CA4567698 rs770691628	1149	L>P		No	ClinGen ExAC
rs1252344410 CA369866358	1150	R>Q		No	ClinGen TOPMed gnomAD
rs1584916065 CA369866374	1151	D>A		No	ClinGen Ensembl
CA369866397 rs1399853333	1154	R>C		No	ClinGen gnomAD
rs765760159 CA4567729	1154	R>H		No	ClinGen ExAC TOPMed gnomAD
rs765760159 CA369866398	1154	R>P		No	ClinGen ExAC TOPMed gnomAD
CA169081220 rs888441937	1159	I>V		No	ClinGen Ensembl
CA369866453 rs1563238169	1162	L>F		No	ClinGen Ensembl
CA369866462 rs1344110745	1163	T>R		No	ClinGen TOPMed
rs1218814111 CA369866472	1165	R>H		No	ClinGen gnomAD
CA369866485 rs1244061673	1167	Q>R		No	ClinGen TOPMed
rs756842629 CA4567734	1170	T>R		No	ClinGen ExAC gnomAD
rs146141837 CA4567735	1172	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA4567736 rs750442776	1172	R>H		No	ClinGen ExAC TOPMed gnomAD
CA369866522 rs1397867146	1173	I>L		No	ClinGen TOPMed
rs1376658633 CA369866538	1175	T>I		No	ClinGen gnomAD
CA369866533 rs1196311566	1175	T>P		No	ClinGen TOPMed gnomAD
rs1307679126 CA369866540	1176	Q>*		No	ClinGen TOPMed
CA4567738 rs779840976	1177	S>R		No	ClinGen ExAC gnomAD
CA4567739 rs748323632	1178	F>Y		No	ClinGen ExAC TOPMed gnomAD
CA4567741 rs778093610	1179	S>F		No	ClinGen ExAC gnomAD
CA4567740 rs772315573	1179	S>P		No	ClinGen ExAC gnomAD
rs1563238399 CA369866571	1180	L>F		No	ClinGen Ensembl
rs149818096 CA4567742	1182	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1336567589 CA369866583	1182	E>G		No	ClinGen gnomAD
rs149818096 CA4567743	1182	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA4567744 rs145823011	1183	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA369866593 rs145823011	1183	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4567745 rs760123467	1184	Q>R		No	ClinGen ExAC gnomAD
CA4567746 rs770226032	1186	R>W		No	ClinGen ExAC gnomAD
CA4567748 rs541336826	1187	G>C		No	ClinGen ExAC TOPMed gnomAD
CA4567750 rs749398455	1187	G>D		No	ClinGen ExAC TOPMed gnomAD
CA369866654 rs541336826	1187	G>R		No	ClinGen ExAC TOPMed gnomAD
rs541336826 CA4567749	1187	G>S		No	ClinGen ExAC TOPMed gnomAD
rs142886510 CA4567753	1188	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs142886510 CA4567754	1188	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4567755 rs779787527	1189	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1377968861 CA369866699	1190	P>S		No	ClinGen gnomAD
rs1438495567 CA369866801	1191	W>*		No	ClinGen gnomAD
rs1166111029 CA369866812	1192	A>V		No	ClinGen gnomAD
CA369866815 rs1285918885	1193	F>L		No	ClinGen TOPMed
CA369866819 rs915666995	1193	F>L		No	ClinGen TOPMed gnomAD
rs1287925360 CA369866827	1194	D>E		No	ClinGen TOPMed
rs892696687 CA169081261	1195	P>L		No	ClinGen TOPMed
rs564937301 CA4567757	1195	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs777840587 CA4567758	1196	P>S		No	ClinGen ExAC TOPMed gnomAD
CA369866839 rs747320181	1197	G>C		No	ClinGen ExAC gnomAD
rs770846565 CA4567760	1197	G>D		No	ClinGen ExAC gnomAD
rs747320181 CA4567759	1197	G>S		No	ClinGen ExAC gnomAD
CA4567762 rs746325833	1198	S>L		No	ClinGen ExAC TOPMed gnomAD
CA369866847 rs1313422440	1199	D>N		No	ClinGen gnomAD
rs1323427632 CA369866852	1199	D>V		No	ClinGen gnomAD
rs770455028 CA4567763	1200	T>I		No	ClinGen ExAC TOPMed gnomAD
rs770455028 CA369866859	1200	T>S		No	ClinGen ExAC TOPMed gnomAD
CA169081276 rs1022405149	1203	P>S		No	ClinGen Ensembl

1 associated diseases with P29474

Without disease ID

17 regional properties for P29474

Type	Name	Position	InterPro Accession
domain	Flavodoxin-like	521 - 534	IPR001094-1
domain	Flavodoxin-like	568 - 579	IPR001094-2
domain	Flavodoxin-like	644 - 654	IPR001094-3
domain	Flavodoxin-like	668 - 687	IPR001094-4
domain	Oxidoreductase FAD/NAD(P)-binding	1011 - 1123	IPR001433
domain	Flavoprotein pyridine nucleotide cytochrome reductase	793 - 803	IPR001709-1
domain	Flavoprotein pyridine nucleotide cytochrome reductase	938 - 945	IPR001709-2
domain	Flavoprotein pyridine nucleotide cytochrome reductase	974 - 983	IPR001709-3
domain	Flavoprotein pyridine nucleotide cytochrome reductase	1010 - 1029	IPR001709-4
domain	Flavoprotein pyridine nucleotide cytochrome reductase	1040 - 1049	IPR001709-5
domain	Flavoprotein pyridine nucleotide cytochrome reductase	1053 - 1064	IPR001709-6
domain	Flavoprotein pyridine nucleotide cytochrome reductase	1085 - 1101	IPR001709-7
domain	Flavoprotein pyridine nucleotide cytochrome reductase	1110 - 1118	IPR001709-8
domain	Sulfite reductase [NADPH] flavoprotein alpha-component-like, FAD-binding	752 - 979	IPR003097
domain	Nitric oxide synthase, N-terminal	121 - 481	IPR004030
domain	Flavodoxin/nitric oxide synthase	520 - 703	IPR008254
domain	FAD-binding domain, ferredoxin reductase-type	756 - 1002	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 Membrane, caveola Cytoplasm, cytoskeleton Golgi apparatus	Specifically associates with actin cytoskeleton in the G2 phase of the cell cycle; which is favored by interaction with NOSIP and results in a reduced enzymatic activity
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

10 GO annotations of cellular component

Name	Definition
caveola	A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm.
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.
endocytic vesicle membrane	The lipid bilayer surrounding an endocytic vesicle.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
vesicle membrane	The lipid bilayer surrounding any membrane-bounded vesicle in the cell.

12 GO annotations of molecular function

Name	Definition
actin monomer binding	Binding to monomeric actin, also known as G-actin.
arginine binding	Binding to 2-amino-5-(carbamimidamido)pentanoic acid.
cadmium ion binding	Binding to a cadmium ion (Cd).
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.
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.

45 GO annotations of biological process

Name	Definition
angiogenesis	Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
aortic valve morphogenesis	The process in which the structure of the aortic valve is generated and organized.
arginine catabolic process	The chemical reactions and pathways resulting in the breakdown of arginine, 2-amino-5-(carbamimidamido)pentanoic acid.
blood vessel diameter maintenance	Any process that modulates the diameter of blood vessels.
blood vessel remodeling	The reorganization or renovation of existing blood vessels.
cell redox homeostasis	Any process that maintains the redox environment of a cell or compartment within a cell.
endocardial cushion morphogenesis	The process in which the anatomical structure of the endocardial cushion is generated and organized. The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves.
endothelial cell migration	The orderly movement of an endothelial cell into the extracellular matrix to form an endothelium.
homeostasis of number of cells within a tissue	Any biological process involved in the maintenance of the steady-state number of cells within a population of cells in a tissue.
in utero embryonic development	The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus.
lipopolysaccharide-mediated signaling pathway	The series of molecular signals initiated by the binding of a lipopolysaccharide (LPS) to a receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. Lipopolysaccharides are major components of the outer membrane of Gram-negative bacteria, making them prime targets for recognition by the immune system.
lung development	The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax.
mitochondrion organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components.
negative regulation of biomineral tissue development	Any process that stops, prevents, or reduces the frequency, rate or extent of biomineral tissue development, the formation of hard tissues that consist mainly of inorganic compounds.
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 cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	Any process that stops, prevents or reduces the frequency, rate or extent of extrinsic apoptotic signaling pathway via death domain receptors.
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 muscle hyperplasia	Any process that stops, prevents, or reduces the frequency, rate, or extent of muscle hyperplasia.
negative regulation of platelet activation	Any process that decreases the rate or frequency of platelet activation. Platelet activation is a series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue.
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 smooth muscle cell proliferation	Any process that stops, prevents or reduces the rate or extent of smooth muscle cell proliferation.
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.
ovulation from ovarian follicle	The process leading to the rupture of the follicle, releasing the centrally located oocyte into the oviduct. An example of this is found in Mus musculus.
positive regulation of angiogenesis	Any process that activates or increases angiogenesis.
positive regulation of blood vessel endothelial cell migration	Any process that activates or increases the frequency, rate or extent of the migration of the endothelial cells of blood vessels.
positive regulation of gene expression	Any process that increases 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).
positive regulation of guanylate cyclase activity	Any process that activates or increases the frequency, rate or extent of guanylate cyclase activity.
positive regulation of Notch signaling pathway	Any process that activates or increases the frequency, rate or extent of the Notch signaling pathway.
pulmonary valve morphogenesis	The process in which the structure of the pulmonary valve is generated and organized.
regulation of blood pressure	Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure.
regulation of nervous system process	Any process that modulates the frequency, rate or extent of a neurophysiological process, an organ system process carried out by any of the organs or tissues of the nervous system.
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.
regulation of systemic arterial blood pressure by endothelin	The process in which endothelin modulates the force with which blood passes through the circulatory system. Endothelin is a hormone that is released by the endothelium, and it is a vasoconstrictor.
regulation of the force of heart contraction by chemical signal	The regulation of the force of heart muscle contraction mediated by chemical signaling, hormonal, autocrine or paracrine.
removal of superoxide radicals	Any process, acting at the cellular level, involved in removing superoxide radicals (O2-) from a cell or organism, e.g. by conversion to dioxygen (O2) and hydrogen peroxide (H2O2).
response to fluid shear stress	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 fluid shear stress stimulus. Fluid shear stress is the force acting on an object in a system where the fluid is moving across a solid surface.
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 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.
smooth muscle hyperplasia	A process, occurring in smooth muscle, in which there is an increase in cell number by cell division, often leading to an increase in the size of an organ.
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.
ventricular septum morphogenesis	The developmental process in which a ventricular septum is generated and organized. A ventricular septum is an anatomical structure that separates the lower chambers (ventricles) of the heart from one another.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P29473	NOS3	Nitric oxide synthase, endothelial	Bos taurus (Bovine)	EV
Q9TUX8	NOS3	Nitric oxide synthase 3	Canis lupus familiaris (Dog) (Canis familiaris)	SS
Q9UHB4	NDOR1	NADPH-dependent diflavin oxidoreductase 1	Homo sapiens (Human)	PR
Q9UBK8	MTRR	Methionine synthase reductase	Homo sapiens (Human)	PR
P29475	NOS1	Nitric oxide synthase, brain	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
Q498R1	Mtrr	Methionine synthase reductase	Rattus norvegicus (Rat)	PR
P29476	Nos1	Nitric oxide synthase, brain	Rattus norvegicus (Rat)	SS
Q62600	Nos3	Nitric oxide synthase 3	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
MGNLKSVAQE	PGPPCGLGLG	LGLGLCGKQG	PATPAPEPSR	APASLLPPAP	EHSPPSSPLT
70	80	90	100	110	120
QPPEGPKFPR	VKNWEVGSIT	YDTLSAQAQQ	DGPCTPRRCL	GSLVFPRKLQ	GRPSPGPPAP
130	140	150	160	170	180
EQLLSQARDF	INQYYSSIKR	SGSQAHEQRL	QEVEAEVAAT	GTYQLRESEL	VFGAKQAWRN
190	200	210	220	230	240
APRCVGRIQW	GKLQVFDARD	CRSAQEMFTY	ICNHIKYATN	RGNLRSAITV	FPQRCPGRGD
250	260	270	280	290	300
FRIWNSQLVR	YAGYRQQDGS	VRGDPANVEI	TELCIQHGWT	PGNGRFDVLP	LLLQAPDDPP
310	320	330	340	350	360
ELFLLPPELV	LEVPLEHPTL	EWFAALGLRW	YALPAVSNML	LEIGGLEFPA	APFSGWYMST
370	380	390	400	410	420
EIGTRNLCDP	HRYNILEDVA	VCMDLDTRTT	SSLWKDKAAV	EINVAVLHSY	QLAKVTIVDH
430	440	450	460	470	480
HAATASFMKH	LENEQKARGG	CPADWAWIVP	PISGSLTPVF	HQEMVNYFLS	PAFRYQPDPW
490	500	510	520	530	540
KGSAAKGTGI	TRKKTFKEVA	NAVKISASLM	GTVMAKRVKA	TILYGSETGR	AQSYAQQLGR
550	560	570	580	590	600
LFRKAFDPRV	LCMDEYDVVS	LEHETLVLVV	TSTFGNGDPP	ENGESFAAAL	MEMSGPYNSS
610	620	630	640	650	660
PRPEQHKSYK	IRFNSISCSD	PLVSSWRRKR	KESSNTDSAG	ALGTLRFCVF	GLGSRAYPHF
670	680	690	700	710	720
CAFARAVDTR	LEELGGERLL	QLGQGDELCG	QEEAFRGWAQ	AAFQAACETF	CVGEDAKAAA
730	740	750	760	770	780
RDIFSPKRSW	KRQRYRLSAQ	AEGLQLLPGL	IHVHRRKMFQ	ATIRSVENLQ	SSKSTRATIL
790	800	810	820	830	840
VRLDTGGQEG	LQYQPGDHIG	VCPPNRPGLV	EALLSRVEDP	PAPTEPVAVE	QLEKGSPGGP
850	860	870	880	890	900
PPGWVRDPRL	PPCTLRQALT	FFLDITSPPS	PQLLRLLSTL	AEEPREQQEL	EALSQDPRRY
910	920	930	940	950	960
EEWKWFRCPT	LLEVLEQFPS	VALPAPLLLT	QLPLLQPRYY	SVSSAPSTHP	GEIHLTVAVL
970	980	990	1000	1010	1020
AYRTQDGLGP	LHYGVCSTWL	SQLKPGDPVP	CFIRGAPSFR	LPPDPSLPCI	LVGPGTGIAP
1030	1040	1050	1060	1070	1080
FRGFWQERLH	DIESKGLQPT	PMTLVFGCRC	SQLDHLYRDE	VQNAQQRGVF	GRVLTAFSRE
1090	1100	1110	1120	1130	1140
PDNPKTYVQD	ILRTELAAEV	HRVLCLERGH	MFVCGDVTMA	TNVLQTVQRI	LATEGDMELD
1150	1160	1170	1180	1190	1200
EAGDVIGVLR	DQQRYHEDIF	GLTLRTQEVT	SRIRTQSFSL	QERQLRGAVP	WAFDPPGSDT

NSP