AiPD: Autoinhibited Protein Database

Q9NX02

Gene name	NLRP2 (NALP2, NBS1, PAN1, PYPAF2)
Protein name	NACHT, LRR and PYD domains-containing protein 2
Names	Nucleotide-binding site protein 1, PYRIN domain and NACHT domain-containing protein 1, PYRIN-containing APAF1-like protein 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55655
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

56-150 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

56-150 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q9NX02

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9NX02-F1	Predicted				AlphaFoldDB

1153 variants for Q9NX02

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs201859308 CA310058802	3	S>F		No	ESP ExAC TOPMed gnomAD ClinGen
rs142463014 CA407865093	4	S>*		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs142463014 COSM1641234 RCV000959581 CA310058806	4	S>L	large_intestine stomach [Cosmic]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated ClinVar dbSNP
CA310058822 rs371167610	5	A>E		No	ESP ExAC TOPMed gnomAD ClinGen
CA310058824 rs371167610	5	A>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA310058833 rs753371923	6	Q>H		No	ExAC ClinGen
CA310058836 rs754873052	7	M>K		No	ExAC gnomAD ClinGen
rs1568462611 CA407865107	7	M>V		No	Ensembl ClinGen
CA407865128 rs1270095746	10	N>D		No	ClinGen TOPMed gnomAD
CA310058864 rs765131798	10	N>S		No	ExAC TOPMed ClinGen
CA310058871 rs374086849	13	A>G		No	ESP ExAC TOPMed gnomAD ClinGen
CA310058875 rs758172743	19	S>I		No	ExAC gnomAD ClinGen
CA407865194 rs1207027884	20	Q>*		No	TOPMed ClinGen
TCGA novel	23	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs75678776 CA310058880	24	S>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1393685920 CA407865237	25	K>N		No	gnomAD ClinGen
rs1299816566 CA407865231	25	K>Q		No	gnomAD ClinGen
CA407865235 rs1374681097	25	K>R		No	gnomAD ClinGen
CA407865249 rs1285934690	27	K>*		No	TOPMed ClinGen
rs146524467 CA310058884	27	K>R		No	ESP ClinGen
rs948891300 CA310058897	28	Y>C		No	TOPMed ClinGen
rs757511521 CA310058903	29	L>M		No	ExAC gnomAD ClinGen
rs775714992 CA310058917	31	T>M		No	ExAC TOPMed gnomAD ClinGen
CA310058930 rs770033217	32	T>I		No	ClinGen ExAC TOPMed gnomAD
CA407865280 rs770033217	32	T>N		No	ClinGen ExAC TOPMed gnomAD
CA310058943 rs755501836	33	F>L		No	Ensembl ClinGen
CA407865290 rs1207162274	34	S>P		No	gnomAD ClinGen
CA310058974 rs768837190	35	L>P		No	ExAC gnomAD ClinGen
CA407865304 rs1568462945	36	A>V		No	ClinGen Ensembl
CA407865306 rs1602294417	37	H>D		No	Ensembl ClinGen
CA310058986 TCGA novel rs367922223	37	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA310058992 rs760197573	38	E>*		No	ExAC TOPMed gnomAD ClinGen
CA407865316 rs1446138202	38	E>D		No	ClinGen gnomAD
CA310058991 rs760197573	38	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA310058996 rs776308630	40	Q>*		No	ExAC gnomAD ClinGen
TCGA novel	41	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759028823 CA310059007	42	I>F		No	ClinGen ExAC gnomAD
rs759028823 CA407865340	42	I>V		No	ClinGen ExAC gnomAD
rs752623275 CA310059012	43	P>L		No	ExAC gnomAD ClinGen
rs763736912 CA310059025 CA310059017	44	H>Q		No	ExAC gnomAD ClinGen
rs758356399 CA310059013	44	H>Y		No	ExAC gnomAD ClinGen
CA310059036 rs757380266	48	D>E		No	ExAC gnomAD ClinGen
TCGA novel	50	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA310059048 rs746141394	51	D>G		No	ExAC gnomAD ClinGen
rs756248472 CA310059051	55	L>V		No	ExAC gnomAD ClinGen
CA310059058 rs17853912	58	I>V		No	Ensembl ClinGen
CA310059064 rs150097185	59	L>F		No	ESP ExAC TOPMed gnomAD ClinGen
rs779109200 CA310059079	61	T>I		No	ExAC gnomAD ClinGen
rs1602295008 CA407865470	62	H>R		No	Ensembl ClinGen
rs748517251 CA310059084	63	C>Y		No	ExAC gnomAD ClinGen
rs374722220 CA310059089	64	D>N		No	ESP ExAC TOPMed gnomAD ClinGen
CA310059094 rs776255691	65	S>N		No	ExAC gnomAD ClinGen
rs769222742 CA310059096	66	Y>*		No	ExAC gnomAD ClinGen
CA310059095 rs759248475	66	Y>C		No	ExAC gnomAD ClinGen
rs774992658 CA310059097	67	W>*		No	ExAC gnomAD ClinGen
rs1291202332 CA407865508	67	W>C		No	TOPMed ClinGen
rs1431453132 CA407865503	67	W>G		No	gnomAD ClinGen
rs774992658 CA407865505	67	W>S		No	ExAC gnomAD ClinGen
CA407865511 rs1602295207	68	V>L		No	Ensembl ClinGen
rs1346046263 CA407865538	71	A>G		No	gnomAD ClinGen
rs555530999 CA310059100	71	A>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA407865547 rs1296793060	73	L>F		No	gnomAD ClinGen
CA310059112 rs751490814	73	L>H		No	ExAC TOPMed gnomAD ClinGen
CA407865557 rs750606144	74	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA310059134 rs767478446	74	Q>L		No	ExAC gnomAD ClinGen
rs756419840 CA310059146	75	V>A		No	ExAC gnomAD ClinGen
CA407865570 rs1317192396	76	F>L		No	gnomAD ClinGen
CA407865584 rs1297089845	78	K>R		No	TOPMed ClinGen
CA310059180 rs780234149	79	M>I		No	ExAC gnomAD ClinGen
rs753983866 CA407865597	80	H>D		No	ExAC TOPMed gnomAD ClinGen
RCV000089318 rs199475706 CA230044	80	H>P		No	Ensembl ClinGen ClinVar dbSNP
CA407865601 rs1351601258	80	H>Q		No	TOPMed ClinGen
rs753983866 CA310059184	80	H>Y		No	ExAC TOPMed gnomAD ClinGen
rs755054890 CA407865602	81	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs138445777 CA310059195	81	R>Q		No	ESP ExAC TOPMed gnomAD ClinGen
rs1005235143 CA310059208	82	M>I		No	TOPMed gnomAD ClinGen
CA407865608 rs1172108287	82	M>K		No	ClinGen gnomAD
CA310059205 rs748665449	82	M>V		No	ClinGen ExAC gnomAD
rs1291807896 CA407865624	84	L>P		No	ClinGen Ensembl
rs1425708787 CA407865637	86	E>G		No	ClinGen gnomAD
TCGA novel	88	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA310059220 rs945026463	89	K>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
CA407865657 rs945026463	89	K>R		No	TOPMed gnomAD ClinGen
rs1433643692 CA407865666	90	D>E		No	gnomAD ClinGen
CA310059223 rs778111020	90	D>V		No	ClinGen ExAC gnomAD
CA407865675 rs1273790906	91	E>D		No	gnomAD ClinGen
CA407865678 rs1478246873	92	V>I		No	TOPMed ClinGen
rs1042459416 CA310059241	94	E>K		No	TOPMed gnomAD ClinGen
CA310093243 rs778409897	95	A>G		No	ExAC gnomAD ClinGen
rs149284049 CA310093246	96	A>T		No	ESP ExAC TOPMed gnomAD ClinGen
CA310093256 rs150872882	98	K>E		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs777429529 CA310093262	100	F>L		No	ExAC gnomAD ClinGen
rs746889855 CA310093264	101	N>H		No	ClinGen ExAC TOPMed gnomAD
rs770791551 CA310093279	102	K>*		No	ExAC TOPMed gnomAD ClinGen
CA310093270 rs770791551	102	K>E		No	ExAC TOPMed gnomAD ClinGen
CA310093285 COSM226398 rs527789643	103	R>K	NS [Cosmic]	No	1000Genomes ExAC gnomAD ClinGen cosmic curated
rs779958010 CA310093293	104	K>M		No	Ensembl ClinGen
CA407423012 rs2217659	104	K>N		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA310093306 rs201724086	105	P>L		No	ExAC gnomAD ClinGen
TCGA novel	106	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1265392400 CA407423027	106	L>V		No	gnomAD ClinGen
CA310093341 rs777890352	108	L>S		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	111	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA310097342 rs771976849	111	T>R		No	ExAC gnomAD ClinGen
rs1053413016 CA310097334	111	T>S		No	ClinGen TOPMed gnomAD
COSM1001335 CA310097364 rs747421028	112	R>Q	endometrium Variant assessed as Somatic; 4.686e-05 impact. [Cosmic, NCI-TCGA]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
rs199915061 CA310097347	112	R>W		No	TOPMed gnomAD ClinGen
TCGA novel	114	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA310097373 COSM475287 rs771601737	115	R>*	kidney Variant assessed as Somatic; 0.0 impact. breast [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA310097380 rs777322338	115	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
VAR_084172	115	R>del	found in patients with female infertility; unknown pathological significance [UniProt]	No	UniProt
CA310097389 rs759959964	116	P>Q		No	ExAC TOPMed gnomAD ClinGen
CA310097398 rs761533100	118	L>V		No	ExAC gnomAD ClinGen
CA310097408 COSM475288 rs368936931	120	V>M	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs766281650 CA310097431 CA407424153	121	D>E		No	ExAC TOPMed gnomAD ClinGen
rs1380006846 CA407424132	121	D>G		No	gnomAD ClinGen
CA407424123 rs201293188	121	D>H		No	ExAC TOPMed gnomAD ClinGen
CA310097419 rs201293188	121	D>N		No	ExAC TOPMed gnomAD ClinGen
rs753829412 CA310097438	122	E>D		No	ExAC TOPMed gnomAD ClinGen
CA407424169 rs1165462336	122	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1403071710 CA407424195	123	M>T		No	ClinGen gnomAD
rs1170340836 CA407424214	125	E>K		No	TOPMed ClinGen
rs778681431 CA310097481 COSM383245	126	R>C	lung pancreas [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
rs373538812 CA310097487	126	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA310097490 rs144821238	131	A>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs368082357 CA310097492	132	Q>L		No	ClinGen ExAC gnomAD
rs145145515	133	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA407424408 rs1469320123	133	A>T		No	gnomAD ClinGen
rs201044240 CA310101881	133	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1217753325 CA407426494	134	F>L		No	gnomAD ClinGen
CA310101895 rs757568418	135	T>A		No	ExAC TOPMed gnomAD ClinGen
rs781374502 CA310101901	136	E>D		No	ExAC gnomAD ClinGen
TCGA novel	136	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA310101912 rs750563035	137	T>M		No	ExAC TOPMed gnomAD ClinGen
rs750563035 CA310101904	137	T>R		No	ExAC TOPMed gnomAD ClinGen
CA407426664 rs1392839713	139	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA310101924 rs202133050	141	V>D		No	ExAC TOPMed gnomAD ClinGen
rs1453603498 CA407426752	143	C>S		No	ClinGen gnomAD
rs768996521 CA310101927	144	L>Q		No	ExAC gnomAD ClinGen
CA310101929 rs779156698	145	G>R		No	ExAC gnomAD ClinGen
CA407426779 rs779156698	145	G>S		No	ExAC gnomAD ClinGen
CA310101954 rs770598840	148	V>A		No	ExAC gnomAD ClinGen
rs746613108 CA310101940	148	V>F		No	ExAC gnomAD ClinGen
CA407426876 rs1370462989	150	K>N		No	ClinGen gnomAD
TCGA novel	152	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407426897 rs1241342536	153	K>M		No	TOPMed gnomAD ClinGen
rs1241342536 CA407426896	153	K>R		No	TOPMed gnomAD ClinGen
rs554886588 CA310101972	154	P>A		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs554886588 CA310101975	154	P>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1229558300 CA407428269	155	D>G		No	gnomAD ClinGen
CA310101985 rs775496594	155	D>N		No	ExAC gnomAD ClinGen
rs768508889 CA310102427	156	K>E		No	ExAC gnomAD ClinGen
CA310102428 rs200480716	156	K>N		No	Ensembl ClinGen
CA407428295 rs1185703386	157	D>N		No	gnomAD ClinGen
CA310102429 rs932788275	158	N>D		No	TOPMed gnomAD ClinGen
COSM1001337 rs774470986 CA310102439	158	N>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	159	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368735684 CA310102451	161	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA310102464 rs760819538	162	Y>C		No	ClinGen ExAC gnomAD
CA310102466 rs888738029	163	I>V		No	TOPMed ClinGen
CA310102478 rs753891788 COSM1001338	166	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs1218667873 CA407428587	167	K>N		No	gnomAD ClinGen
CA310102491 rs765706569	167	K>R		No	ExAC gnomAD ClinGen
CA310102492 rs562147630	168	F>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs778117336 CA310102501	169	R>Q		No	ExAC gnomAD ClinGen
rs527958520 CA310102500	169	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ExAC gnomAD ClinGen NCI-TCGA
rs866845143 CA310102504	170	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
CA310102506 rs1020226503	170	E>V		No	Ensembl ClinGen
CA407428677 rs1421876584	171	M>I		No	TOPMed ClinGen
CA407428687 rs1256434826	172	W>R		No	gnomAD ClinGen
TCGA novel	173	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745471188 CA310102512	173	K>N		No	ExAC gnomAD ClinGen
TCGA novel CA310102517 rs755745718	174	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
CA310102518 rs779579364	174	S>T		No	ExAC gnomAD ClinGen
VAR_084586	175	W>C	found in patients with female infertility; unknown pathological significance [UniProt]	No	UniProt
rs748716732 CA310102519	175	W>R		No	ExAC gnomAD ClinGen
rs768331569 CA310102521	176	P>S		No	ExAC TOPMed gnomAD ClinGen
rs1417645862 CA407428822	177	G>A		No	TOPMed gnomAD ClinGen
rs1004466322 CA310102523	177	G>R		No	TOPMed ClinGen
CA407428820 rs1417645862	177	G>V		No	TOPMed gnomAD ClinGen
CA310102525 rs774425989	178	D>G		No	ExAC gnomAD ClinGen
CA310102532 rs771933134	179	S>R		No	ExAC gnomAD ClinGen
rs1312839452 CA407428903	180	K>R		No	gnomAD ClinGen
rs760908668 CA310102538	182	V>F		No	ExAC gnomAD ClinGen
rs760908668 CA310102536	182	V>I		No	ExAC gnomAD ClinGen
rs1254809655 CA407428969	183	Q>*		No	TOPMed gnomAD ClinGen
rs776957163 CA310102549	183	Q>R		No	ExAC gnomAD ClinGen
CA407429006 rs1319598810	184	V>I		No	TOPMed ClinGen
CA310102569 rs753140463	185	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA310102560 rs564458116	185	M>T		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs10221459 CA310102594	187	E>G		No	Ensembl ClinGen
rs763466839 CA310102599 COSM1712843	188	R>K	skin [Cosmic]	No	ExAC ClinGen cosmic curated
CA310102607 rs372036860 CA407429130	189	Y>*		No	ESP ExAC TOPMed gnomAD ClinGen
CA407429117 rs1568492456	189	Y>H		No	Ensembl ClinGen
TCGA novel	192	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779551457 CA310102638	192	L>P		No	ExAC gnomAD ClinGen
rs375069245 CA310102633	192	L>V		No	ESP ExAC gnomAD ClinGen
rs753586405 CA310102642	193	I>M		No	ExAC gnomAD ClinGen
rs1240492801 CA407429242	194	P>L		No	TOPMed gnomAD ClinGen
rs1388504938 CA407429232	194	P>S		No	TOPMed ClinGen
CA310102678 rs10403648	195	F>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA310102705 rs191789242	197	N>S		No	1000Genomes ExAC gnomAD ClinGen
rs1374203928 CA407429317	198	P>T		No	gnomAD ClinGen
CA310102717 rs746756441	199	R>G		No	ExAC TOPMed gnomAD ClinGen
CA310102719 rs145770839	199	R>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs1189891932 CA407429405	203	G>A		No	TOPMed ClinGen
rs368045816 CA310102728 CA310102727	203	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA407429448 rs1302495216	205	F>L		No	gnomAD ClinGen
TCGA novel	205	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1205436263 CA407429456	206	S>A		No	TOPMed ClinGen
CA310102735 rs764556038 COSM3797532	206	S>L	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs139279089 CA310102760	207	Y>*		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1225444285 CA407429483	207	Y>F		No	gnomAD ClinGen
CA407429494 rs1568492856	208	T>A		No	Ensembl ClinGen
rs753374250 CA310102777	208	T>M		No	ExAC TOPMed gnomAD ClinGen
CA310102788 rs754698461	209	V>A		No	ExAC gnomAD ClinGen
rs752221005 CA310102796	212	Y>*		No	ClinGen ExAC gnomAD
CA407429600 rs1325853669	213	G>A		No	TOPMed gnomAD ClinGen
CA407429633 rs1308341815	215	A>P		No	TOPMed ClinGen
CA407429630 rs1308341815	215	A>T		No	TOPMed ClinGen
CA407429664 rs1224889392	217	L>F		No	gnomAD ClinGen
TCGA novel	220	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407429730 rs17699678	221	T>K		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs17699678 CA310102824 VAR_053616	221	T>M	found in patients with female infertility; unknown pathological significance [UniProt]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
rs17699678 CA310102814	221	T>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA407429747 rs1407837559	222	L>P		No	gnomAD ClinGen
CA407429779 rs1164791111	224	Q>H		No	gnomAD ClinGen
rs73607913 CA310102831	227	M>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA310102832 rs746044131	227	M>T		No	ExAC TOPMed gnomAD ClinGen
CA407429877 rs1174612376	229	D>H		No	TOPMed ClinGen
CA407429914 rs1277726459	230	W>C		No	gnomAD ClinGen
rs775731182 CA310102842	230	W>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs531856312 CA310102846	231	A>S		No	ExAC TOPMed gnomAD ClinGen
rs768838945 CA310102853	234	N>D		No	ExAC TOPMed gnomAD ClinGen
rs1181902923 CA407429980	234	N>S		No	TOPMed ClinGen
rs1258916220 CA407429997	235	L>F		No	gnomAD ClinGen
rs1258916220 CA407429994	235	L>V		No	gnomAD ClinGen
rs1482545954 CA407430029	237	H>Y		No	TOPMed ClinGen
CA407430085 rs1459391722	239	F>L		No	TOPMed gnomAD ClinGen
rs374933929 CA310102905	240	K>I		No	ClinGen ESP ExAC gnomAD
CA407430117 rs1201767704	241	Y>C		No	TOPMed ClinGen
COSM193160 CA407430145 rs1473452983 COSM193161	242	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs764957561 CA310102971	244	Y>H		No	ExAC gnomAD ClinGen
CA407430179 rs1428455710	244	Y>S		No	TOPMed gnomAD ClinGen
CA310102981 rs369097456	245	L>F		No	ESP ExAC TOPMed gnomAD ClinGen
CA407430194 rs1568493427	245	L>H		No	Ensembl ClinGen
CA310102976 rs369097456	245	L>I		No	ESP ExAC TOPMed gnomAD ClinGen
CA310102982 rs896037555	247	C>G		No	TOPMed ClinGen
rs143026800 CA310102986	248	R>W		No	ESP ExAC TOPMed gnomAD ClinGen
rs1411464041 CA407430246	249	E>Q		No	gnomAD ClinGen
CA407430260 rs1396784874	250	L>F		No	TOPMed ClinGen
rs751397169 CA310102993	252	R>C		No	ExAC TOPMed gnomAD ClinGen
CA310102996 rs201496089	252	R>H		No	ESP ExAC TOPMed gnomAD ClinGen
CA310103010 rs201496089	252	R>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs1295028324 CA407430291	253	L>M		No	gnomAD ClinGen
rs745632440 CA310103018	254	G>S		No	ExAC gnomAD ClinGen
CA310103026 rs375922261	255	P>L		No	ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	255	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407430316 rs375922261	255	P>R		No	ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	255	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs556364017 CA310103034	257	S>G		No	1000Genomes ExAC TOPMed gnomAD ClinGen
VAR_084587 CA407430348 rs1194295774	258	F>S	found in patients with female infertility; unknown pathological significance [UniProt]	No	gnomAD ClinGen UniProt dbSNP
rs1173226121 CA407430343	258	F>V		No	gnomAD ClinGen
CA310103037 rs768559468	260	E>K		No	ExAC gnomAD ClinGen
rs772600256 CA310103047	263	F>L		No	ExAC gnomAD ClinGen
CA407430405 rs1254940930	266	W>C		No	TOPMed ClinGen
CA310103056 rs761103070	268	E>K		No	ExAC gnomAD ClinGen
CA407430424 rs1186534356	269	L>S		No	gnomAD ClinGen
rs1466232547 CA407430430	270	Q>K		No	TOPMed ClinGen
rs1423903872 CA407430433	270	Q>P		No	gnomAD ClinGen
CA310103057 rs555603201	271	D>N		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs955842758 CA310103058	272	D>H		No	TOPMed ClinGen
rs1165778965 CA407430458	273	I>M		No	gnomAD ClinGen
CA407430466 rs138041237	275	H>D		No	ESP ExAC TOPMed gnomAD ClinGen
rs763466159 CA310103067	275	H>L		No	ExAC TOPMed gnomAD ClinGen
rs138041237 CA310103064	275	H>N		No	ESP ExAC TOPMed gnomAD ClinGen
CA407430467 rs763466159	275	H>P		No	ExAC TOPMed gnomAD ClinGen
CA310103066 rs763466159	275	H>R		No	ExAC TOPMed gnomAD ClinGen
rs138041237 CA310103065	275	H>Y		No	ESP ExAC TOPMed gnomAD ClinGen
CA310103069 rs756761757	276	I>V		No	ExAC ClinGen
rs767468742 CA310103079	277	L>P		No	ExAC gnomAD ClinGen
rs1373495961 CA407430477	277	L>V		No	gnomAD ClinGen
rs1340084364 CA407430485	278	A>V		No	ClinGen TOPMed
rs750419261 CA310103094	279	Q>*		No	ExAC gnomAD ClinGen
CA310103095 rs76399676	281	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA407430500 rs200257622	281	R>L		No	ClinGen ExAC TOPMed gnomAD
rs200257622 CA310103100	281	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA310103096 rs76399676	281	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA310103131 rs779043525	282	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1261888009 CA407430519	284	L>*		No	gnomAD ClinGen
rs147098165 CA310103170 CA310103168	285	F>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs771360716 CA310103174	286	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA407430537 rs1367501999	287	I>T		No	TOPMed ClinGen
CA310103177 rs777161045	288	D>E		No	ExAC TOPMed gnomAD ClinGen
CA310103184 rs138537360	289	G>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs1298711482 CA407430553	290	F>L		No	TOPMed gnomAD ClinGen
rs1387291180 CA407430560	291	D>N		No	gnomAD ClinGen
CA310103188 rs773925733	292	E>D		No	ExAC gnomAD ClinGen
CA310103195 rs761373612	293	L>P		No	ExAC gnomAD ClinGen
rs1463444751 CA407430590 COSM1641235	295	A>V	stomach [Cosmic]	No	TOPMed ClinGen cosmic curated
rs766120038 CA407430592	296	A>S		No	ExAC TOPMed gnomAD ClinGen
rs766120038 CA310103218	296	A>T		No	ExAC TOPMed gnomAD ClinGen
CA407430597 rs564394457	297	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA310103245 rs754777768	297	P>R		No	ExAC gnomAD ClinGen
rs564394457 CA310103243	297	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1568494356 CA407430605	298	G>A		No	Ensembl ClinGen
rs779179826 CA310103246	299	A>S		No	ExAC gnomAD ClinGen
rs149627959 CA310103247	299	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs778010743 CA310103255	300	L>P		No	ExAC gnomAD ClinGen
rs747472514 CA310103261	301	I>L		No	ExAC gnomAD ClinGen
rs144397371 CA310103267	301	I>M		No	ESP ExAC TOPMed gnomAD ClinGen
CA310103288 rs761378450	302	E>G		No	ClinGen ExAC gnomAD
rs3745904 CA310103278	302	E>K		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs3745904 CA310103285 VAR_053617	302	E>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
rs1159789020 CA407430627	303	D>A		No	gnomAD ClinGen
TCGA novel	305	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407430646 rs370946962	305	C>W		No	ESP gnomAD ClinGen
CA407430642 rs1451739013	305	C>Y		No	TOPMed gnomAD ClinGen
rs188819279 CA310103310	306	G>R		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs772739635 CA310103314	307	D>G		No	ExAC gnomAD ClinGen
CA407430717 rs1390269119	309	E>D		No	TOPMed ClinGen
rs760216362 CA310103356	309	E>G		No	ExAC gnomAD ClinGen
CA310103342 rs865812246	309	E>K		No	ClinGen Ensembl
TCGA novel	310	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407430757 rs766281794	311	K>N		No	ExAC TOPMed gnomAD ClinGen
CA407430748 rs1447929172	311	K>R		No	TOPMed gnomAD ClinGen
CA407430746 rs1447929172	311	K>T		No	TOPMed gnomAD ClinGen
CA407430760 rs1334441094	312	K>Q		No	ClinGen TOPMed gnomAD
CA407430768 rs1194518302	312	K>T		No	ClinGen TOPMed
CA310103365 rs141427711	313	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA407430784 rs141427711	313	P>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA310103360 rs753776748	313	P>T		No	ExAC gnomAD ClinGen
rs1270844279 CA407430811	315	P>L		No	gnomAD ClinGen
CA310103378 rs752904721	315	P>S		No	ExAC gnomAD ClinGen
CA407430814 rs561774583	316	V>F		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA310103382 rs561774583	316	V>I		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA310103388 rs144092754	317	L>F		No	ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	319	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1418725795 CA407430845	321	L>W		No	gnomAD ClinGen
CA310103407 rs756436723	323	N>K		No	ExAC TOPMed gnomAD ClinGen
rs1163089244 CA407430861	324	R>G		No	ClinGen gnomAD
rs772899546 CA310103416	325	V>E		No	ExAC TOPMed gnomAD ClinGen
rs747795316 CA310103414	325	V>L		No	ExAC TOPMed gnomAD ClinGen
rs747795316 CA310103415	325	V>M		No	ExAC TOPMed gnomAD ClinGen
CA310103418 rs1019187055	326	M>V		No	TOPMed gnomAD ClinGen
rs1394773480 CA407430885	327	L>S		No	gnomAD ClinGen
rs746508494 CA310103424	328	P>S		No	ExAC gnomAD ClinGen
rs776561473 CA310103436	329	K>R		No	ExAC TOPMed gnomAD ClinGen
rs765030338 CA310103457	330	A>T		No	ExAC gnomAD ClinGen
CA310103488 rs200189881	331	A>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs200189881 CA310103482	331	A>T	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs377520886 CA310103493	331	A>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA310103517 rs756602998	336	T>A		No	ExAC gnomAD ClinGen
rs780650039 CA310103519	336	T>M		No	ExAC TOPMed gnomAD ClinGen
CA310103570 rs149735961	337	R>Q		No	ESP ExAC TOPMed gnomAD ClinGen
rs755393462 CA310103562	337	R>W		No	ExAC TOPMed gnomAD ClinGen
rs145646456 CA310103572	338	P>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs1461765066 CA407430945	339	R>T		No	gnomAD ClinGen
CA407430951 rs1314049182	340	A>T		No	gnomAD ClinGen
rs1439486499 CA407430971	343	D>G		No	TOPMed ClinGen
CA407430981 rs745776240	345	R>G		No	ExAC TOPMed gnomAD ClinGen
CA310103585 rs1045014130	345	R>Q		No	ClinGen TOPMed gnomAD
CA310103584 rs745776240	345	R>W		No	ExAC TOPMed gnomAD ClinGen
CA407430984 rs1161160221	346	I>L		No	ClinGen TOPMed
CA310103586 rs769589997	347	L>V		No	ExAC gnomAD ClinGen
CA310103588 rs775549835	348	A>T		No	ExAC gnomAD ClinGen
rs1297232695 CA407430999	348	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
CA407431004 rs148817929	349	E>K		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA310103589 rs148817929	349	E>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA310103596 rs774648884	350	E>D		No	ExAC gnomAD ClinGen
rs142528551 CA310103591	350	E>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1238183293 CA407431034	351	P>A		No	TOPMed ClinGen
CA310103600 rs762141241 COSM1526410	351	P>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs762141241 CA407431038	351	P>Q		No	ExAC TOPMed gnomAD ClinGen
rs147585490 CA310103623	352	I>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs760857427 CA310103619	352	I>V		No	ExAC gnomAD ClinGen
CA407431062 rs1417580166	353	Y>D		No	gnomAD ClinGen
rs1328910586 CA407431066	353	Y>S		No	TOPMed ClinGen
rs1221767114 CA407431086	354	I>M		No	TOPMed ClinGen
CA310103642 rs61735077 RCV000955044	354	I>V		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA310103655 rs374172530	356	V>L		No	ESP ExAC TOPMed gnomAD ClinGen
CA407431104 rs374172530	356	V>M		No	ESP ExAC TOPMed gnomAD ClinGen
rs145871372 CA310103702	358	G>A		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA310103664 rs868858851	358	G>S		No	Ensembl ClinGen
rs145871372 CA310103712	358	G>V		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA310103716 rs62124644 RCV000958239	359	F>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA310103747 rs779856359	363	D>N		No	ExAC gnomAD ClinGen
CA310103752 VAR_025011 rs4306647	364	R>K		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
rs774311651 CA310103755	366	A>P		No	ExAC gnomAD ClinGen
rs1240586728 CA407431401	368	F>C		No	gnomAD ClinGen
CA310103764 rs773539974	368	F>L		No	ClinGen ExAC
rs1189789284 CA407431395	368	F>L		No	TOPMed ClinGen
TCGA novel	369	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1194491371 CA407431430	371	H>D		No	gnomAD ClinGen
rs1194491371 CA407431428	371	H>N		No	gnomAD ClinGen
TCGA novel	371	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407431442 rs1464831470	372	F>V		No	TOPMed ClinGen
rs3826883 CA310103796 CA310103784	374	D>E		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA407431480 rs766483874	374	D>G		No	ClinGen ExAC gnomAD
rs766483874 CA310103771	374	D>V		No	ClinGen ExAC gnomAD
CA310103823 rs971948724	375	E>G		No	TOPMed ClinGen
CA310103816 rs753026157	375	E>K		No	ExAC gnomAD ClinGen
rs149347145 CA310103824	377	Q>*		No	ESP ExAC ClinGen
CA310103825 rs146314922	377	Q>R		No	ESP ClinGen
CA310103833 rs557761553	378	A>D		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA407431609 rs557761553	378	A>G		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA407431612 COSM1001340 rs557761553	378	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs755516987 CA310103850	379	M>I		No	ExAC TOPMed gnomAD ClinGen
rs750160790 CA310103846	379	M>T		No	ExAC TOPMed gnomAD ClinGen
CA407431620 rs1160567969	379	M>V		No	gnomAD ClinGen
CA310103861 rs189403101 COSM1396445	380	R>C	large_intestine [Cosmic]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated
rs368452689 CA310103865	380	R>H		No	ESP ExAC gnomAD ClinGen
CA407431723 rs1356028066	383	E>D		No	gnomAD ClinGen
rs1373890011 TCGA novel CA407431769	385	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	gnomAD NCI-TCGA ClinGen
rs544064072 CA310103883	386	R>K		No	1000Genomes ExAC gnomAD ClinGen
CA310103905 rs574135212	388	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199715336 CA310103901	388	N>S		No	1000Genomes ExAC gnomAD ClinGen
CA310103911 rs770863135	389	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs776720130 CA310103912	389	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs776037868 CA310103917	390	A>S		No	ExAC TOPMed gnomAD ClinGen
rs763226145 CA310103919	390	A>V		No	ExAC gnomAD ClinGen
CA310103921 rs138317042	391	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1040501606 CA310103949	392	F>C		No	TOPMed ClinGen
rs765949453 CA310103951	392	F>L		No	ExAC TOPMed gnomAD ClinGen
CA407431988 rs1165226017	395	G>D		No	gnomAD ClinGen
COSM1001341 rs371887051 CA310103953	396	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs1396151639 CA407431997	396	S>P		No	gnomAD ClinGen
CA407432003 rs371887051	396	S>W		No	ESP ExAC TOPMed gnomAD ClinGen
rs1277670847 CA407432032	398	P>A		No	TOPMed gnomAD ClinGen
CA407432038 rs1336047402	398	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs1277670847 CA407432035	398	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs142821233 CA310104000	399	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs758071463 CA310103994	399	A>P		No	ExAC gnomAD ClinGen
rs758071463 CA310103993	399	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs142821233 CA310104004 COSM1396446	399	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA310104048 COSM1396447 rs763533364	404	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
CA310104074 rs146095747	405	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs146095747 CA310104070	405	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA310104090 rs139903547	406	T>M		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs139903547 CA310104087 RCV000957463	406	T>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA407432153 rs1424979347	407	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs547400670 CA310104103	407	T>I		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA407432164 rs1479277364	409	K>E		No	TOPMed ClinGen
CA310104137 rs746794364	411	Q>L		No	ExAC TOPMed gnomAD ClinGen
rs746794364 CA407432179	411	Q>R		No	ExAC TOPMed gnomAD ClinGen
rs757103934 CA310104146	412	M>L		No	ExAC gnomAD ClinGen
rs781391943 CA310104153	413	E>G		No	ExAC TOPMed gnomAD ClinGen
CA310104160 rs746099147 CA310104162	414	K>N		No	ExAC TOPMed gnomAD ClinGen
CA407432205 rs1034479481	415	G>A		No	TOPMed ClinGen
rs1034479481 CA310104174	415	G>E		No	TOPMed ClinGen
CA310104166 rs532812211 CA310104169	415	G>R		No	1000Genomes ExAC TOPMed gnomAD ClinGen
TCGA novel	416	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA310104177 rs267605682	417	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs550017145 CA310104185	418	P>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA310104184 rs762261891	418	P>S		No	ExAC TOPMed gnomAD ClinGen
rs1304647178 CA407432232	420	P>T		No	TOPMed ClinGen
rs764795923 CA310104189	421	T>P		No	ExAC gnomAD ClinGen
CA407433800 rs1259069656	422	C>S		No	gnomAD ClinGen
CA310104200 rs762418467	422	C>W		No	ExAC gnomAD ClinGen
rs149876739 CA310104205	424	T>A		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA310104210 rs751519733	424	T>I		No	ExAC gnomAD ClinGen
rs149876739 CA407433835	424	T>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA310104220 rs780979692	425	R>C		No	ExAC TOPMed gnomAD ClinGen
CA310104228 rs548814942	425	R>H		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA310104235 rs548814942	425	R>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1435322954 CA407433877	426	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
CA310104245 rs749369072	427	G>V		No	ExAC TOPMed gnomAD ClinGen
CA407433931 rs1262456734	428	L>P		No	TOPMed ClinGen
CA310104248 rs768678113	430	L>P		No	ExAC gnomAD ClinGen
CA407434001 rs1428884992	431	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs779407063 CA310104264	431	R>H		No	ExAC TOPMed gnomAD ClinGen
rs779407063 CA310104274	431	R>L		No	ExAC TOPMed gnomAD ClinGen
rs779407063 CA407434014	431	R>P		No	ExAC TOPMed gnomAD ClinGen
rs1568497671 CA407434042	432	F>L		No	Ensembl ClinGen
rs1568497656 CA407434032	432	F>Y		No	Ensembl ClinGen
CA407434050 rs1268464888	433	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs761161904 CA407434078	434	C>G		No	ExAC TOPMed gnomAD ClinGen
CA407434075 rs761161904	434	C>R		No	ExAC TOPMed gnomAD ClinGen
CA310104288 rs761161904	434	C>S		No	ExAC TOPMed gnomAD ClinGen
CA407434083 rs1278769807	434	C>Y		No	gnomAD ClinGen
rs1199328756 CA407434109	435	S>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs557849528 CA310104302	436	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes gnomAD ClinGen NCI-TCGA
rs368658601 CA310104299	436	R>W		No	ESP ExAC TOPMed gnomAD ClinGen
CA310104307 rs762522050	438	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC ClinGen NCI-TCGA
rs1247238856 CA407434211	439	Q>K		No	TOPMed gnomAD ClinGen
rs763517555 CA310104316	439	Q>R		No	ExAC gnomAD ClinGen
CA310104318 rs373284265	440	G>D		No	ExAC TOPMed gnomAD ClinGen
rs373284265 CA310104317	440	G>V		No	ExAC TOPMed gnomAD ClinGen
COSM1259226 rs767263664 CA310104341	441	A>T	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs1159290554 CA407434246	442	Q>*		No	ClinGen gnomAD
CA310104346 rs750192301	442	Q>H		No	ExAC TOPMed gnomAD ClinGen
CA310104349 rs780312781	443	L>P		No	ExAC TOPMed gnomAD ClinGen
rs755024903 CA310104363	444	R>L		No	ExAC TOPMed gnomAD ClinGen
CA310104358 rs755024903	444	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA310104356 rs141967667	444	R>W		No	ExAC TOPMed gnomAD ClinGen
CA310104385 rs778472203	445	G>A		No	ExAC TOPMed ClinGen
rs772675484 CA310104382	445	G>R		No	ExAC TOPMed gnomAD ClinGen
rs771265449 CA407434286	446	A>P		No	ExAC TOPMed gnomAD ClinGen
CA310104404 rs771265449	446	A>T		No	ExAC TOPMed gnomAD ClinGen
rs201375258 CA310104417	446	A>V	Variant assessed as Somatic; 0.000281 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs537056115 CA310104432	447	L>M		No	1000Genomes ExAC gnomAD ClinGen
rs1468767428 CA407434302	447	L>P		No	TOPMed gnomAD ClinGen
CA407434313 rs371780675 COSM1259222	448	R>L	oesophagus [Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated
rs371780675 CA407434311	448	R>P		No	ESP ExAC TOPMed gnomAD ClinGen
CA310104452 rs371780675	448	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs773882098 CA310104439	448	R>W		No	ExAC TOPMed gnomAD ClinGen
CA310104461 rs767423134	449	T>A		No	ExAC ClinGen
CA310104495 rs144271525	449	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs766098415 CA310104504	450	L>V		No	ClinGen ExAC TOPMed gnomAD
CA407434343 rs1395423993	451	S>N		No	TOPMed gnomAD ClinGen
CA407434344 rs1395423993	451	S>T		No	TOPMed gnomAD ClinGen
TCGA novel	452	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755181641 CA310104506	452	L>I		No	ExAC TOPMed gnomAD ClinGen
rs1390443669 CA407434367	453	L>P		No	gnomAD ClinGen
rs200762489 CA407434385	455	A>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs200762489 CA310104509	455	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA310104511 rs560016212	455	A>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA310104535 rs757585574	456	Q>*		No	ExAC TOPMed gnomAD ClinGen
rs572155411 CA310104541	456	Q>P		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs572155411 CA310104546	456	Q>R		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA310104548 rs748930449	457	G>S		No	ExAC gnomAD ClinGen
CA310104550 rs768166884	460	A>G		No	ExAC TOPMed gnomAD ClinGen
rs1263508761 CA407434438	460	A>T		No	gnomAD ClinGen
rs768166884 CA310104552	460	A>V		No	ExAC TOPMed gnomAD ClinGen
rs200623569 CA310104554	462	T>M	Variant assessed as Somatic; 0.0002313 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA407434463 rs1252522130	462	T>P		No	ClinGen gnomAD
CA407434481 rs564190416	463	S>F		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs564190416 CA310104566	463	S>Y		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA310104574 rs776254226	464	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1304431322 CA407434494	465	L>F		No	TOPMed gnomAD ClinGen
rs1300442787 CA407434508	466	H>N		No	TOPMed gnomAD ClinGen
rs759424283 CA310104600	466	H>R		No	ExAC gnomAD ClinGen
CA407434522 COSM1217462 rs1300799865	467	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	TOPMed ClinGen cosmic curated NCI-TCGA
rs147804224 CA407434525	467	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs147804224 CA310104608	467	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA310104607 rs147804224 COSM1217460	467	R>Q	large_intestine [Cosmic]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated
rs758484350 CA407434531	468	E>*		No	ExAC TOPMed gnomAD ClinGen
rs764284852 CA310104619	468	E>G		No	ExAC TOPMed gnomAD ClinGen
rs758484350 CA310104618	468	E>Q		No	ExAC TOPMed gnomAD ClinGen
rs781743031 CA310104628	471	E>Q		No	ExAC gnomAD ClinGen
rs746200623 CA310104629	472	R>S		No	ExAC TOPMed gnomAD ClinGen
CA407434609 rs1486674500	474	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA310104639 rs149186407	474	G>R		No	ESP ExAC TOPMed gnomAD ClinGen
rs1555774683 CA407434615	475	V>M		No	Ensembl ClinGen
CA407434631 rs1180368183	476	Q>*		No	ClinGen gnomAD
rs747806145 CA310104643	476	Q>L		No	ExAC gnomAD ClinGen
CA407434636 rs747806145	476	Q>R		No	ExAC gnomAD ClinGen
TCGA novel	478	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143361632 CA310104662	479	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA407434674 rs1388695037	479	D>V		No	gnomAD ClinGen
rs1429726249 CA407434685	480	L>F		No	gnomAD ClinGen
CA310104663 rs867801459	480	L>H		No	Ensembl ClinGen
rs1429726249 CA407434682	480	L>I		No	gnomAD ClinGen
CA310104667 COSM2151093 rs770750785	481	R>C	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA407434692 rs1449525359	481	R>H		No	TOPMed gnomAD ClinGen
CA310104672 rs776687009	482	L>V		No	ExAC gnomAD ClinGen
rs893206785 CA407434703	483	F>L		No	TOPMed ClinGen
rs759245111 CA310104700	484	L>R		No	ExAC gnomAD ClinGen
CA310104704 rs377688731	485	D>E		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs866085205 CA407434719	486	G>A		No	TOPMed ClinGen
CA310104720 rs866085205	486	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
CA310104716 COSM273019 rs763292353	486	G>R	Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs1177006903 CA407434720	487	D>N		No	TOPMed ClinGen
CA310104735 rs764229799	488	I>F		No	ExAC gnomAD ClinGen
CA310104737 rs148374359	489	L>V		No	ESP ExAC TOPMed gnomAD ClinGen
rs762005489 CA310104759	490	R>C		No	ExAC TOPMed gnomAD ClinGen
CA310104765 rs767901107 COSM1396448	490	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA310104782 RCV001311910 rs113204023	492	D>N		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
TCGA novel	493	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407434789 rs1320456898	497	G>D		No	gnomAD ClinGen
rs752304219 CA310104797	498	C>*		No	ExAC gnomAD ClinGen
rs1568499690 CA407434795	498	C>Y		No	Ensembl ClinGen
CA407434799 rs1415689694	499	Y>N		No	gnomAD ClinGen
rs1568499753 CA407434810	500	S>F		No	ClinGen Ensembl
rs777526437 CA310104830	501	F>C		No	ExAC gnomAD ClinGen
CA310104828 rs777526437	501	F>S		No	ExAC gnomAD ClinGen
rs1231378636 CA407434824	502	I>M		No	TOPMed gnomAD ClinGen
CA310104831 rs770540636	502	I>V		No	ExAC TOPMed gnomAD ClinGen
CA310104835 rs745829660	503	H>Q		No	ExAC TOPMed gnomAD ClinGen
CA310104834 rs780923397	503	H>Y		No	ExAC TOPMed gnomAD ClinGen
rs1434025089 CA407434834	504	L>F		No	gnomAD ClinGen
TCGA novel	504	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407434848 rs1304085957	505	S>I		No	TOPMed gnomAD ClinGen
CA407434845 rs1304085957	505	S>N		No	TOPMed gnomAD ClinGen
rs769664318 CA310104836	507	Q>*		No	ExAC TOPMed gnomAD ClinGen
CA310104859 rs142785605	507	Q>H		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA310104866 rs768978792	508	Q>K		No	ExAC gnomAD ClinGen
rs774696773 CA310104869	508	Q>R		No	ExAC TOPMed gnomAD ClinGen
rs1464742024 CA407434962	511	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs1401545356 CA407434980	512	A>V		No	TOPMed ClinGen
rs767642490 CA310104876	513	L>P		No	ExAC gnomAD ClinGen
rs553038879 COSM1305107 CA310104877	514	F>L	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	gnomAD ClinGen cosmic curated NCI-TCGA
CA310104879 VAR_068977 rs61735082 RCV000950283	516	T>A		No	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA310104884 rs146084801	516	T>I		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs754175644 CA407435048	517	L>V		No	ExAC TOPMed gnomAD ClinGen
CA407435060 rs755393356	518	E>*		No	ExAC TOPMed gnomAD ClinGen
CA310104887 rs755393356	518	E>K		No	ExAC TOPMed gnomAD ClinGen
rs1250330847 CA407435068	518	E>V		No	TOPMed ClinGen
rs181360821 CA310104888	519	K>E		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1283152392 CA407435124	521	E>D		No	TOPMed ClinGen
TCGA novel	521	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs386811006 CA310104899	522	E>G		No	Ensembl ClinGen
CA310104900 rs61735083 VAR_068978 RCV000950284	522	E>G		No	1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP
CA407435126 rs1183506640	522	E>K		No	gnomAD ClinGen
rs1568500310 CA407435133	523	E>*		No	ClinGen Ensembl
rs149295176 CA310104944	524	D>G		No	ESP ExAC TOPMed gnomAD ClinGen
rs749086000 CA310104995	527	G>D		No	ExAC gnomAD ClinGen
CA310104988 rs371453526	527	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1230245655 CA407435209	528	H>R		No	ClinGen gnomAD
VAR_068979 rs34804158 CA310105038	529	T>A		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
CA310105055 rs113752373	529	T>I		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA310105047 rs113752373	529	T>N		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1450202535 CA407435247	531	D>N		No	TOPMed gnomAD ClinGen
rs147222602 CA310105063	532	I>T		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA407435271 rs1221513804	532	I>V		No	gnomAD ClinGen
rs1183629232 CA407435300	533	G>R		No	ClinGen gnomAD
CA310105082 rs144234287	534	D>E		No	ESP ExAC TOPMed gnomAD ClinGen
CA310105086 COSM295159 rs765646068	535	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA310105093 CA310105090 rs765646068	535	V>L		No	ExAC TOPMed gnomAD ClinGen
COSM1481519 rs1165160519 CA407435359	536	Q>*	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	gnomAD ClinGen cosmic curated NCI-TCGA
CA407435429 rs1485746664	538	L>P		No	TOPMed ClinGen
rs749931307 CA310105130	541	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs755178555 CA310105156	542	V>A		No	ExAC TOPMed gnomAD ClinGen
CA310105151 rs755178555 COSM1396450	542	V>E	large_intestine [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
CA310105149 rs755744039	542	V>I		No	ExAC gnomAD ClinGen
CA407435570 rs1221064433	543	E>G		No	TOPMed ClinGen
rs754673670 CA310105180	544	R>K		No	ClinGen ExAC gnomAD
rs1409217636 CA407435608	545	L>F		No	TOPMed gnomAD ClinGen
CA407435624 rs1306324883	546	R>G		No	gnomAD ClinGen
CA310105184 COSM1396451 rs778794562	546	R>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA310105185 rs747930528	548	P>S		No	ExAC gnomAD ClinGen
CA407435690 rs1354708300	549	D>N		No	TOPMed gnomAD ClinGen
CA407435693 rs1361030563	549	D>V		No	TOPMed ClinGen
rs1354708300 CA407435692	549	D>Y		No	TOPMed gnomAD ClinGen
rs772312834 CA310105188	551	I>L		No	ExAC TOPMed gnomAD ClinGen
CA310105194 rs182010297	551	I>M		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs756737759 CA407435770	552	Q>*		No	TOPMed gnomAD ClinGen
rs756737759 CA310105233	552	Q>E		No	TOPMed gnomAD ClinGen
rs1203612489 CA407435810	553	A>V		No	gnomAD ClinGen
CA310105242 rs147794442	554	G>D		No	ESP ExAC TOPMed ClinGen
rs1568501061 CA407435841	555	Y>*		No	Ensembl ClinGen
rs139117160 CA310105286	555	Y>C		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA310105285 rs763277003	555	Y>D		No	ExAC gnomAD ClinGen
rs1428426150 CA407435867	556	Y>*		No	ClinGen TOPMed
CA310105290 rs750170621	556	Y>C		No	ExAC gnomAD ClinGen
CA407435855 rs750170621	556	Y>S		No	ExAC gnomAD ClinGen
rs149824323 CA310105312	557	S>F		No	ESP ExAC gnomAD ClinGen
CA407435926 rs10412915	558	F>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA407435930 rs1166604729	559	G>S		No	gnomAD ClinGen
rs377213172 CA310105325	560	L>F		No	ESP ExAC TOPMed gnomAD ClinGen
CA310105330 rs61735086	561	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA310105331 rs758190201	562	N>I		No	ClinGen ExAC gnomAD
rs1259045887 CA407436013	562	N>K		No	gnomAD ClinGen
CA407436047 rs1489641633	563	E>A		No	TOPMed ClinGen
CA407436030 rs777904026	563	E>K		No	ClinGen ExAC gnomAD
CA310105347 rs777904026	563	E>Q		No	ClinGen ExAC gnomAD
rs369675696 CA310105350	565	R>*		No	ESP gnomAD ClinGen
rs369675696 CA407436098	565	R>G		No	ESP gnomAD ClinGen
rs1226884053 CA407436120	566	A>P		No	gnomAD ClinGen
rs867884283 CA407436166	567	K>N		No	TOPMed ClinGen
CA407436245 rs1200463287	570	E>A		No	gnomAD ClinGen
CA407436227 rs1225136250	570	E>K		No	TOPMed ClinGen
rs1345861525 CA407436293	572	T>A		No	TOPMed ClinGen
rs781280567 CA310105398	573	F>C		No	ExAC gnomAD ClinGen
rs781280567 CA310105390	573	F>S		No	ExAC gnomAD ClinGen
rs1248458884 CA407436377	574	G>R		No	TOPMed gnomAD ClinGen
CA407436436 rs763371878	576	R>G		No	ExAC TOPMed gnomAD ClinGen
rs146643490 CA310105416	576	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA310105409 rs763371878	576	R>W		No	ExAC TOPMed gnomAD ClinGen
CA310105419 rs772945921	577	M>I		No	ExAC ClinGen
CA310105428 rs141202537	578	S>*		No	ClinGen ESP ExAC gnomAD
rs149897717 CA310105441	579	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs765949937 CA310105433	579	P>S		No	ExAC gnomAD ClinGen
rs1602371656 CA407436579	580	D>N		No	Ensembl ClinGen
CA407436680 rs1602371698	581	I>M		No	Ensembl ClinGen
CA407436737 rs1433274315	583	Q>E		No	gnomAD ClinGen
rs141442342 CA310105467	583	Q>P		No	ESP ExAC TOPMed gnomAD ClinGen
rs141442342 CA310105468	583	Q>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA310105470 rs777564374	587	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs572832021 CA310105484	587	R>L		No	ExAC TOPMed gnomAD ClinGen
rs572832021 CA407436899	587	R>P		No	ExAC TOPMed gnomAD ClinGen
CA310105474 rs572832021 COSM3389379	587	R>Q	pancreas [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
rs1276162560 CA407436913	588	C>Y		No	gnomAD ClinGen
CA407436934 rs150431153 COSM1582429	589	D>N	stomach [Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated
CA310105494 rs150431153	589	D>Y		No	ESP ExAC TOPMed gnomAD ClinGen
rs1480298627 CA407436970	590	I>K		No	ClinGen TOPMed
CA310105508 rs780547731	590	I>M		No	ExAC TOPMed gnomAD ClinGen
rs769831942 CA310105499	590	I>V		No	ExAC TOPMed gnomAD ClinGen
rs1205410030 CA407436990	591	S>C		No	TOPMed ClinGen
CA310105522 rs749776631	593	K>E		No	ExAC gnomAD ClinGen
COSM568120 CA407437066 rs1247177445	593	K>N	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	gnomAD ClinGen cosmic curated NCI-TCGA
CA407437089 rs1433757659	595	G>R		No	ClinGen TOPMed gnomAD
CA407437148 rs1376035466	596	H>Q		No	ClinGen gnomAD
CA407437139 rs1357420855	596	H>R		No	ClinGen gnomAD
CA310105528 rs145361990	596	H>Y		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA310105565 rs921305811	597	S>*		No	TOPMed ClinGen
rs1221983987 CA407437155	597	S>P		No	TOPMed ClinGen
rs774890248 CA310105580	598	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs1455841338 CA407437244	600	T>K		No	ClinGen gnomAD
CA310105612 rs776209090	601	D>E		No	ExAC TOPMed gnomAD ClinGen
rs759016867 CA310105617	602	L>V		No	ExAC TOPMed gnomAD ClinGen
CA407437329 rs752629141	605	L>F		No	ExAC TOPMed gnomAD ClinGen
CA310105622 rs752629141	605	L>I		No	ExAC TOPMed gnomAD ClinGen
CA407437351 rs1365162739	606	L>H		No	TOPMed ClinGen
rs533433932 CA310105661	607	G>S		No	ExAC TOPMed gnomAD ClinGen
rs1226172199 CA407437382	607	G>V		No	gnomAD ClinGen
CA407437407 rs1488666933	608	C>*		No	gnomAD ClinGen
rs1267316559 CA407437393	608	C>S		No	gnomAD ClinGen
CA407437396 rs1568502248	608	C>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
CA407437415 rs903007408	609	L>V		No	gnomAD ClinGen
CA310105675 rs551890882	610	Y>*		No	ExAC gnomAD ClinGen
rs1451115316 CA407437443	611	E>K		No	TOPMed gnomAD ClinGen
rs1451115316 CA407437447	611	E>Q		No	TOPMed gnomAD ClinGen
rs1340973115 CA407437466	612	S>F		No	ClinGen gnomAD
TCGA novel	614	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756163264 CA310105709	616	E>Q		No	ExAC gnomAD ClinGen
CA407437559 rs1471763280 VAR_084588	616	E>V	found in patients with female infertility; unknown pathological significance [UniProt]	No	gnomAD ClinGen UniProt dbSNP
rs1461708515 CA407437685	622	M>I		No	TOPMed ClinGen
CA407437674 rs1459721544	622	M>T		No	gnomAD ClinGen
rs755514044 CA407437692	623	A>P		No	ExAC TOPMed gnomAD ClinGen
rs755514044 CA310105746	623	A>T		No	ExAC TOPMed gnomAD ClinGen
rs1485707548 CA407437749	625	F>L		No	TOPMed gnomAD ClinGen
CA310105751 rs868127450	627	E>D		No	Ensembl ClinGen
CA310105770 rs866985418	629	S>F		No	Ensembl ClinGen
rs147213467 CA310105764	629	S>P		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs147213467 CA407437818	629	S>T		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs182098487 CA310105800	630	L>P		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA310105810 rs776285800	631	H>L		No	ExAC gnomAD ClinGen
rs1602373059 CA407437843	631	H>Y		No	Ensembl ClinGen
rs745528418 CA310105825	633	N>D		No	ExAC TOPMed gnomAD ClinGen
CA310105830 rs769305078	634	A>P		No	ExAC TOPMed gnomAD ClinGen
CA310105831 rs769305078	634	A>S		No	ExAC TOPMed gnomAD ClinGen
CA407437922 rs774830526	636	D>E		No	ExAC TOPMed ClinGen
CA407437932 rs764005997	637	V>A		No	ExAC TOPMed ClinGen
CA310105847 rs764005997	637	V>G		No	ExAC TOPMed ClinGen
rs558929398 CA310105839 COSM1751159	637	V>I	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	1000Genomes ExAC gnomAD ClinGen cosmic curated NCI-TCGA
rs200868551 CA310105874	640	S>F		No	1000Genomes ClinGen
CA310105869 rs1015946284	640	S>T		No	ClinGen TOPMed
CA310105898 rs761530739	642	F>L		No	ExAC gnomAD ClinGen
rs555672988 CA310105917	644	V>I		No	TOPMed gnomAD ClinGen
TCGA novel	645	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201621704 CA310105927	646	H>Q		No	1000Genomes ExAC gnomAD ClinGen
rs1262098250 CA407438005	646	H>Y		No	TOPMed ClinGen
rs200381270 CA310105939	647	C>S		No	1000Genomes ExAC gnomAD ClinGen
rs200381270 CA310105935	647	C>Y		No	1000Genomes ExAC gnomAD ClinGen
CA310105962 rs201735558	648	R>*		No	ESP ExAC TOPMed gnomAD ClinGen
rs201735558 CA310105953	648	R>G		No	ESP ExAC TOPMed gnomAD ClinGen
rs753846462 CA310105972	648	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA407438020 rs1377571564	649	N>Y		No	gnomAD ClinGen
CA407438041 rs1602373763	652	K>E		No	Ensembl ClinGen
rs1185949518 CA407438044	652	K>I		No	ClinGen gnomAD
rs755171724 CA310105982	653	M>I		No	ExAC gnomAD ClinGen
rs779493327 CA310105983	654	S>L		No	ClinGen ExAC TOPMed gnomAD
VAR_084589	654	S>del		No	UniProt
CA310105989 rs758785918	655	L>P		No	ExAC ClinGen
CA407438097 rs1427208362	656	Q>*		No	gnomAD ClinGen
CA310106004 rs747440771	656	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA407438140 rs1568503173	658	I>K		No	Ensembl ClinGen
rs1295298664 CA407438161	661	N>T		No	TOPMed ClinGen
rs1397406502 CA407438160	661	N>Y		No	gnomAD ClinGen
rs769307616 CA310106024	663	P>A		No	ExAC gnomAD ClinGen
rs775271805 CA310106038	663	P>L		No	ExAC TOPMed gnomAD ClinGen
rs775271805 CA407438175	663	P>R		No	ExAC TOPMed gnomAD ClinGen
CA407438185 rs1424780558	665	N>D		No	TOPMed ClinGen
rs989447661 CA310106101	665	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
CA310106098 rs768161237	665	N>S		No	ExAC gnomAD ClinGen
CA310106091 rs768161237	665	N>T		No	ExAC gnomAD ClinGen
CA310106110 rs761763761	666	V>A		No	ExAC gnomAD ClinGen
CA310106111 rs761789961	667	T>S		No	ExAC TOPMed ClinGen
CA310106141 rs370185803 COSM1001346	668	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1490209747 CA407438212	670	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs1449390922 CA407438236	673	A>G		No	gnomAD ClinGen
rs148404367 CA310106173	673	A>T		No	ESP ExAC TOPMed gnomAD ClinGen
CA310106176 rs758940445	674	E>K		No	ExAC TOPMed gnomAD ClinGen
rs1347729053 CA407438247	675	V>G		No	TOPMed ClinGen
rs778393891 CA310106179	675	V>L		No	ExAC gnomAD ClinGen
TCGA novel	681	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs542090265 CA310107858	682	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA310107853 rs542090265	682	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA310107861 rs776535407	683	H>Y		No	ExAC TOPMed gnomAD ClinGen
CA310107867 rs140594282	684	M>V		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA407438930 rs1189013526	685	L>H		No	gnomAD ClinGen
TCGA novel	685	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407438934 rs1189013526	685	L>P		No	gnomAD ClinGen
CA407438957 rs1452391379	687	F>C		No	TOPMed ClinGen
rs747399133 CA310107868	688	W>*		No	TOPMed ClinGen
CA407438965 rs1239735982	688	W>R		No	ClinGen TOPMed
CA310107869 rs770127991	689	T>A		No	ExAC TOPMed gnomAD ClinGen
rs775920834 CA310107875	689	T>K		No	ExAC gnomAD ClinGen
CA310107871 rs775920834	689	T>M		No	ExAC gnomAD ClinGen
rs1327689934 CA407439007	691	L>V		No	gnomAD ClinGen
TCGA novel	692	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs267605683 CA310107898	693	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
TCGA novel	694	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762417448 CA310107911	695	F>L		No	ClinGen ExAC gnomAD
rs768054992 CA310107921	696	G>R		No	ExAC gnomAD ClinGen
CA310107927 rs750767986	697	S>*		No	ExAC gnomAD ClinGen
rs756532078 CA310107932	699	K>R		No	ExAC gnomAD ClinGen
CA310107934 rs764799542	700	D>V		No	ExAC TOPMed gnomAD ClinGen
CA407439117 rs1568507882	700	D>Y		No	Ensembl ClinGen
TCGA novel	701	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752404229 CA310107935	701	L>V		No	ExAC gnomAD ClinGen
rs1056383906 CA310107960	702	M>T		No	TOPMed ClinGen
CA310107956 rs757795437	702	M>V		No	ExAC TOPMed ClinGen
rs777371558 CA310107967	703	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA310107962 rs571531167	703	G>S		No	Ensembl ClinGen
rs61733928 CA310107974	704	L>I		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs745654203 CA310107992	708	D>Y		No	ExAC gnomAD ClinGen
rs909432908 CA310108032	709	S>R		No	Ensembl ClinGen
rs776270073 CA310108041	710	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA407439248 rs1222365479	711	L>F		No	gnomAD ClinGen
rs769716258 CA310108044	711	L>R		No	ExAC gnomAD ClinGen
COSM1743922 CA407439245 rs1222365479	711	L>V	biliary_tract [Cosmic]	No	gnomAD ClinGen cosmic curated
rs1372167232 CA407439266	712	S>R		No	TOPMed ClinGen
rs775798143 CA310108046	712	S>R		No	ExAC TOPMed gnomAD ClinGen
rs768579950 CA310108077	714	S>A		No	ExAC gnomAD ClinGen
rs1239219069 CA407439303	716	V>L		No	TOPMed gnomAD ClinGen
CA310108116 rs773779658	721	E>D		No	ExAC TOPMed gnomAD ClinGen
CA310108127 rs201705438	723	I>M		No	1000Genomes ClinGen
CA310108144 rs369147616	724	A>P		No	1000Genomes ESP ExAC gnomAD ClinGen
CA310108150 rs369147616	724	A>T		No	1000Genomes ESP ExAC gnomAD ClinGen
rs189450393 RCV000886427 CA310108156	724	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA407439475 rs1418220858	726	D>A		No	ClinGen TOPMed
rs758035297 CA310108180	727	T>S		No	ExAC TOPMed gnomAD ClinGen
rs1306412324 CA407439536	729	H>R		No	gnomAD ClinGen
rs867883038 CA310108185	731	Q>*		No	TOPMed ClinGen
CA310108189 rs763700471	731	Q>R		No	ExAC TOPMed gnomAD ClinGen
CA310108195 rs751065392	732	R>T		No	ExAC TOPMed gnomAD ClinGen
CA310108208 rs367800971	734	V>A		No	ESP ExAC TOPMed gnomAD ClinGen
CA407440543 CA310109682 rs771454157	735	F>L		No	ExAC gnomAD ClinGen
CA407440536 rs1391250233	735	F>Y		No	gnomAD ClinGen
rs777070553 CA310109685	736	K>R		No	ExAC TOPMed gnomAD ClinGen
CA310109689 rs76921873	737	N>T		No	Ensembl ClinGen
CA310109695 rs770067786	739	S>A		No	ExAC gnomAD ClinGen
CA310109700 rs149891105 COSM107179	740	P>L	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1182934018 CA407440670	742	D>A		No	ClinGen TOPMed gnomAD
rs774007013 CA310109702	742	D>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA407440698 rs1410358483	743	A>G		No	TOPMed ClinGen
CA310109709 rs767321068	744	H>R		No	ExAC gnomAD ClinGen
rs1321039018 CA407440715	744	H>Y		No	gnomAD ClinGen
rs766338756 CA310109732	745	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs749933450 CA310109727	745	R>W		No	ExAC TOPMed gnomAD ClinGen
CA310109744 rs753727675	747	L>I	Variant assessed as Somatic; 0.0001848 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs778600165 CA310109755	747	L>P		No	ExAC gnomAD ClinGen
rs753727675 CA310109752	747	L>V		No	ExAC TOPMed gnomAD ClinGen
rs752525392 CA310109757	748	C>S		No	ExAC TOPMed gnomAD ClinGen
rs868678363 CA310109766	750	A>P		No	Ensembl ClinGen
rs1266848624 CA407440861 COSM1217461	752	R>*	kidney Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	gnomAD ClinGen cosmic curated NCI-TCGA
CA407440859 rs1266848624	752	R>G		No	gnomAD ClinGen
rs777510010 CA310109770	752	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
VAR_084590	752	R>del		No	UniProt
rs1228519362 CA407440868	753	G>D		No	TOPMed ClinGen
rs1414681657 CA407440867	753	G>R		No	TOPMed gnomAD ClinGen
CA310109779 rs1000471697	754	H>R		No	TOPMed gnomAD ClinGen
CA310109776 rs747086439	754	H>Y		No	ClinGen ExAC gnomAD
rs757287350 CA310109790	755	K>R		No	ExAC gnomAD ClinGen
CA407440889 rs1568512071	756	T>I		No	Ensembl ClinGen
rs200375320 CA310109795	758	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA310109799 rs200375320	758	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200375320 CA310109797	758	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA310109807 rs543253453	759	Y>C		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs543253453 CA310109810	759	Y>F		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA310109813 rs773068640	760	L>V		No	ExAC gnomAD ClinGen
rs1288539145 CA407440953	761	T>I		No	gnomAD ClinGen
rs1383817522 CA407440991	764	G>S		No	TOPMed ClinGen
CA310109830 rs765824500	765	N>H		No	ExAC gnomAD ClinGen
rs372774611 CA310109835	765	N>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs759357240 CA310109838	766	D>E		No	ClinGen ExAC gnomAD
rs202151550 CA310109843	767	Q>L		No	ExAC TOPMed gnomAD ClinGen
CA310109846 rs202151550	767	Q>R		No	ExAC TOPMed gnomAD ClinGen
CA407441063 rs1568512380	768	D>N		No	Ensembl ClinGen
CA407441090 rs1183179038	769	D>G		No	gnomAD ClinGen
rs758254532 CA310109854	769	D>H		No	ClinGen ExAC gnomAD
CA310109856 rs146632517	770	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	771	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407441137 COSM1712848 rs1368136796	772	P>S	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs781161777 CA310109867	773	A>S		No	ClinGen ExAC TOPMed gnomAD
rs781161777 CA310109864	773	A>T		No	ClinGen ExAC TOPMed gnomAD
rs756558130 CA407441194 CA310109874	774	L>F		No	ExAC TOPMed gnomAD ClinGen
CA407441244 rs141473350	776	E>D		No	ESP ExAC TOPMed gnomAD ClinGen
CA310109881 rs749669517	777	V>G		No	ExAC gnomAD ClinGen
CA407441247 rs1363196226	777	V>I		No	ClinGen gnomAD
rs145164030 CA310109884	778	L>S		No	ESP gnomAD ClinGen
CA310109888 rs769150580	779	R>K		No	ExAC gnomAD ClinGen
rs971494741 CA310109892	780	H>P		No	ClinGen TOPMed gnomAD
rs572216748 CA310109900	781	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1363779698 CA407441312	781	P>L		No	TOPMed ClinGen
rs572216748 CA310109896	781	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA310109907 rs1028422757	783	C>R		No	TOPMed ClinGen
CA407441346 rs1602390268	784	N>D		No	Ensembl ClinGen
CA310109915 rs145922476	786	R>*		No	1000Genomes ExAC gnomAD ClinGen
rs145922476 CA310109910	786	R>G		No	1000Genomes ExAC gnomAD ClinGen
CA310109918 rs145686547	786	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA310109921 rs267605684	788	L>F		No	Ensembl ClinGen
rs369032564 CA310109930	789	G>R		No	ESP ExAC TOPMed gnomAD ClinGen
rs1020741479 CA310111688	790	L>*		No	Ensembl ClinGen
rs1602407492 CA407442679	790	L>V		No	Ensembl ClinGen
CA407442711 rs1225899116	791	V>A		No	TOPMed gnomAD ClinGen
CA310111689 rs779498980	791	V>M		No	ExAC TOPMed gnomAD ClinGen
CA310111691 rs557625923	792	S>F		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs768521611 CA310111693	793	C>W		No	ExAC gnomAD ClinGen
rs774348072 CA310111697	794	S>C		No	ExAC TOPMed gnomAD ClinGen
rs774348072 CA407442781	794	S>F		No	ExAC TOPMed gnomAD ClinGen
rs771956956 CA310111701	795	A>T		No	ExAC gnomAD ClinGen
CA407442819 rs1178792001	796	T>A		No	gnomAD ClinGen
rs1405493774 CA407442827	796	T>N		No	gnomAD ClinGen
rs1165347218 CA407442834	797	T>A		No	ClinGen gnomAD
rs1165347218 CA407442837	797	T>S		No	ClinGen gnomAD
rs1367554037 CA407442867	798	Q>*		No	gnomAD ClinGen
CA310111708 rs766735382	798	Q>R		No	ExAC gnomAD ClinGen
CA310111711 rs753914793	799	Q>R		No	ExAC gnomAD ClinGen
TCGA novel	800	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA310111718 rs753307532	801	A>D		No	ClinGen ExAC gnomAD
rs117066658 RCV000953391 CA310111716	801	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA407443010 rs1229412947	802	D>G		No	gnomAD ClinGen
CA310111720 rs758670254	802	D>H		No	ClinGen ExAC gnomAD
rs764561180 CA310111722	803	L>F		No	ExAC gnomAD ClinGen
CA310111724 rs376466868	803	L>R		No	ClinGen ESP ExAC TOPMed
rs755714001 CA310111727	805	L>V		No	ExAC TOPMed gnomAD ClinGen
CA310111729 rs779693721	806	A>S		No	ClinGen ExAC gnomAD
rs748728484 CA310111734	807	L>P		No	ClinGen ExAC gnomAD
rs920308046 CA310111732	807	L>V		No	Ensembl ClinGen
CA310111740 rs146037192	810	N>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	810	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA310111742 rs1005739609	812	S>Y		No	TOPMed gnomAD ClinGen
rs370914730 CA310111745	814	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA407443341 rs1193689662	818	L>V		No	TOPMed ClinGen
rs771213726 CA310111755	820	D>N		No	ExAC TOPMed gnomAD ClinGen
rs777062884 CA310111760	821	N>D		No	ExAC gnomAD ClinGen
rs777062884 CA310111758	821	N>H		No	ExAC gnomAD ClinGen
rs765408642 CA310111763	821	N>S		No	ExAC TOPMed gnomAD ClinGen
CA407443426 rs1320331056	822	E>D		No	gnomAD ClinGen
CA310111766 rs775830349	823	L>F		No	ExAC gnomAD ClinGen
rs751862608 CA310111774	825	D>E		No	ExAC gnomAD ClinGen
CA407443463 rs541059927	825	D>H		No	1000Genomes ExAC gnomAD ClinGen
CA310111772 rs541059927	825	D>Y		No	1000Genomes ExAC gnomAD ClinGen
rs1602408565 CA407444193	826	E>Q		No	ClinGen Ensembl
CA310111777 rs1039672376	827	G>V		No	Ensembl ClinGen
CA310111782 rs535953662	829	K>E		No	Ensembl ClinGen
CA310111784 rs201725128	829	K>R		No	Ensembl ClinGen
CA310111788 rs766009543	831	L>P		No	ClinGen ExAC gnomAD
CA310111789 rs753543825	832	Y>C		No	ExAC TOPMed gnomAD ClinGen
CA310111791 rs753543825	832	Y>S		No	ExAC TOPMed gnomAD ClinGen
rs747639382 CA310111796	834	T>A		No	ExAC gnomAD ClinGen
CA407444443 rs1194322716	836	R>K		No	TOPMed ClinGen
rs758302891 CA310111798	837	H>Y		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	838	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1419163378 CA407444580	839	K>T		No	ClinGen gnomAD
rs776972990 CA310111811	843	Q>*		No	ExAC TOPMed gnomAD ClinGen
rs1452589311 CA407444693	843	Q>R		No	gnomAD ClinGen
CA407444745 rs1321753214	845	L>W		No	gnomAD ClinGen
rs746134985 CA310111814	846	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
TCGA novel	846	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201029849 CA310112006	847	L>W		No	1000Genomes ExAC TOPMed gnomAD ClinGen
VAR_084591	848	E>D	found in patients with female infertility; unknown pathological significance [UniProt]	No	UniProt
rs1240754844 CA407445258	850	C>G		No	TOPMed gnomAD ClinGen
rs1240754844 CA407445254	850	C>R		No	TOPMed gnomAD ClinGen
rs1422671836 CA407445273	850	C>S		No	ClinGen gnomAD
rs1378294849 CA407445395	853	T>R		No	TOPMed ClinGen
rs776814479 CA310112016	854	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs1204812571 CA407445482	855	A>D		No	TOPMed ClinGen
CA310112018 rs543284761	856	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1270345989 CA407445552	857	C>F		No	TOPMed ClinGen
CA310112021 rs768358040	858	K>R		No	ExAC ClinGen
CA310112023 rs774213139	860	L>V		No	ClinGen ExAC gnomAD
rs1004639400 CA310112025	861	A>V		No	gnomAD ClinGen
CA310112028 rs767184044	863	V>A		No	ExAC gnomAD ClinGen
rs536617913 CA310112027	863	V>L		No	ExAC TOPMed gnomAD ClinGen
rs773169454 CA310112031	864	L>F		No	ExAC gnomAD ClinGen
CA407445951 rs1297795144	866	V>A		No	gnomAD ClinGen
rs897441623 CA310112033	866	V>L		No	TOPMed ClinGen
rs766359239 CA310112038	867	S>G		No	ExAC gnomAD ClinGen
rs556839625 CA310112040	867	S>T		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs765436175 CA407446020	868	R>L		No	ExAC TOPMed gnomAD ClinGen
rs765436175 CA310112045	868	R>Q		No	ExAC TOPMed gnomAD ClinGen
rs754768995 CA310112042	868	R>W		No	ExAC TOPMed gnomAD ClinGen
rs1435418071 CA407446080	869	E>G		No	TOPMed ClinGen
rs1202345960 CA407446046	869	E>Q		No	ClinGen gnomAD
rs371936185 CA310112053	872	H>Q		No	ESP ExAC TOPMed gnomAD ClinGen
rs747136283 CA310112059	873	L>V		No	ExAC gnomAD ClinGen
rs1421356083 CA407446241	874	C>F		No	TOPMed ClinGen
CA310112063 rs757648263	877	K>E		No	ExAC TOPMed gnomAD ClinGen
CA310112069 rs781724918	879	P>S		No	ExAC TOPMed gnomAD ClinGen
CA407446415 rs1470792877	880	I>L		No	gnomAD ClinGen
rs1173978652 CA407446439	880	I>T		No	ClinGen TOPMed gnomAD
CA310112072 rs866207869	881	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
CA310112074 rs770383671	883	T>I		No	Ensembl ClinGen
CA407446583 rs1290754298	884	G>E		No	TOPMed gnomAD ClinGen
CA310112076 rs59779270 VAR_062140	884	G>R		No	1000Genomes ExAC gnomAD ClinGen UniProt dbSNP
CA310112080 rs774123083	885	V>L		No	ExAC gnomAD ClinGen
CA407446747 rs1222138359	888	L>V		No	gnomAD ClinGen
rs1318629301 CA407446849	891	G>C		No	ClinGen TOPMed
rs771785192 CA310112087	892	L>*		No	ClinGen ExAC gnomAD
CA310112089 rs922105657	892	L>F		No	Ensembl ClinGen
rs772546072 CA310112091	893	R>G		No	ExAC ClinGen
rs200670245 CA310112093	895	P>S		No	1000Genomes ExAC gnomAD ClinGen
TCGA novel	895	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407447092 rs1215450008	896	E>D		No	gnomAD ClinGen
COSM3797534 rs990334364 CA310112100	896	E>K	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	gnomAD ClinGen cosmic curated NCI-TCGA
CA310112102 rs913254808	897	C>G		No	Ensembl ClinGen
rs759308744 CA310112103	898	K>R		No	ClinGen ExAC gnomAD
rs1446642439 CA407447173	899	L>V		No	Ensembl ClinGen
rs778429134 CA407447194	900	Q>*		No	gnomAD ClinGen
rs778429134 CA310112106	900	Q>E		No	gnomAD ClinGen
rs749608473 CA310112114 CA310112112	900	Q>H		No	ClinGen ExAC gnomAD
rs201577263 CA310112108	900	Q>P		No	1000Genomes ExAC gnomAD ClinGen
rs201577263 CA310112110	900	Q>R		No	1000Genomes ExAC gnomAD ClinGen
TCGA novel	903	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1206435643 CA407450087	904	L>V		No	gnomAD ClinGen
CA310113665 rs975071316	906	N>I		No	Ensembl ClinGen
CA310113667 rs961505237	906	N>K		No	TOPMed ClinGen
CA310113669 rs780716411	907	C>R		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	908	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA310113673 rs540940476	908	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA407450293 rs1245055884	910	T>A		No	gnomAD ClinGen
CA883736085 rs1184089421	911	S>N		No	gnomAD ClinGen
CA310113682 rs746718511	912	D>H		No	ExAC TOPMed gnomAD ClinGen
CA310113681 rs746718511	912	D>N		No	ExAC TOPMed gnomAD ClinGen
CA407450406 rs746718511	912	D>Y		No	ExAC TOPMed gnomAD ClinGen
rs1568534692 CA407450449	913	G>A		No	Ensembl ClinGen
CA407450457 rs1284867615	914	C>R		No	ClinGen TOPMed
CA407450526 rs556462659	915	C>W		No	ClinGen ExAC TOPMed gnomAD
CA310113691 rs374020777	916	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
COSM140236 COSM140235 rs374020777 CA310113689	916	D>N	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA310113693 rs374020777	916	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA310113695 rs749025165	917	L>H		No	ExAC gnomAD ClinGen
rs768542757 CA310113697	918	T>K		No	ExAC gnomAD ClinGen
rs768542757 CA310113699	918	T>R		No	ExAC gnomAD ClinGen
rs145736130 CA310113702	920	L>V		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs760838433 CA310113706	921	L>V		No	ExAC TOPMed gnomAD ClinGen
CA310113711 rs532961412	922	Q>L		No	1000Genomes ExAC gnomAD ClinGen
CA407451013 rs1215931528	925	S>P		No	gnomAD ClinGen
rs1317008433 CA407451082	926	S>I		No	gnomAD ClinGen
CA407451177 rs1360051452	928	L>F		No	TOPMed ClinGen
rs756877389 CA310113720	929	C>G		No	ExAC TOPMed gnomAD ClinGen
rs780828249 CA310113722	929	C>Y		No	ExAC gnomAD ClinGen
CA407451253 rs1250231732	930	L>S		No	TOPMed gnomAD ClinGen
CA310113728 rs755680979	933	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs1480930650 CA407451421	934	L>P		No	TOPMed gnomAD ClinGen
rs549386720 CA310113740	937	I>L		No	1000Genomes ExAC gnomAD ClinGen
rs549386720 CA310113738	937	I>V		No	1000Genomes ExAC gnomAD ClinGen
rs774146177 CA310113744	938	G>E		No	ClinGen ExAC gnomAD
rs768507334 CA310113742	938	G>R		No	ExAC gnomAD ClinGen
CA310113746 rs747904944	941	G>E		No	ExAC gnomAD ClinGen
CA407451728 rs1275838648	942	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA407451688 rs1195848061	942	M>V		No	ClinGen TOPMed
rs772349853 CA310113748	943	K>N		No	ExAC TOPMed gnomAD ClinGen
CA407451768 rs1339437216	943	K>T		No	gnomAD ClinGen
rs773633093 CA310113750	944	F>I		No	ClinGen ExAC TOPMed gnomAD
CA310113756 rs766608991	946	C>F		No	ExAC gnomAD ClinGen
rs1453006401 CA407451871	946	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1170651049 CA407451951	948	A>T		No	TOPMed gnomAD ClinGen
CA310113758 rs776608017	952	P>Q		No	ExAC gnomAD ClinGen
rs753039885 CA310113764	954	C>W		No	ExAC gnomAD ClinGen
CA407452291 rs993600678	955	N>K		No	gnomAD ClinGen
rs528767497 CA310113766	955	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs199476220 RCV000089323	957	R>missing		No	ClinVar dbSNP
CA310113773 rs767145179	957	R>G		No	ExAC gnomAD ClinGen
rs755589146 CA310113777	957	R>S		No	ExAC gnomAD ClinGen
CA310113775 rs750127014	957	R>T		No	ExAC TOPMed gnomAD ClinGen
rs1295793677 CA407452433	958	C>S		No	ClinGen gnomAD
rs1405144466 CA407452475	959	L>P		No	gnomAD ClinGen
CA310113782 rs753311022	960	W>*		No	ClinGen ExAC TOPMed gnomAD
rs753311022 CA407452490	960	W>L		No	ClinGen ExAC TOPMed gnomAD
CA310114528 rs745948103	963	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA407455107 rs1454700460	966	I>L		No	TOPMed gnomAD ClinGen
CA310114537 rs375615677	967	P>A		No	ESP ExAC TOPMed gnomAD ClinGen
CA310114538 rs375615677	967	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA310114542 rs368579702	968	P>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs763409377 CA310114540	968	P>S		No	ExAC gnomAD ClinGen
CA407455173 rs763409377	968	P>T		No	ExAC gnomAD ClinGen
CA407455260 rs1264380677	970	S>G		No	gnomAD ClinGen
CA310114547 rs139002081	970	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA310114549 rs371106626	971	C>Y		No	TOPMed gnomAD ClinGen
CA407455374 rs1253425725	973	D>G		No	ClinGen gnomAD
rs61735074 CA310114553	974	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1193397219 CA407455412	974	L>P		No	gnomAD ClinGen
rs61735074 CA310114552 RCV000962759	974	L>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA407455454 rs1476680668	975	C>*		No	ClinGen gnomAD
CA310114558 rs201666813	975	C>R		No	1000Genomes ClinGen
CA310114560 rs759061758	975	C>Y		No	ExAC TOPMed gnomAD ClinGen
CA407455500 rs1406795048	976	S>F		No	gnomAD ClinGen
rs1169674784 CA407455483	976	S>P		No	gnomAD ClinGen
rs1568543269 CA407455566	978	L>F		No	Ensembl ClinGen
TCGA novel	978	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA310114564 rs764691889	979	S>N		No	ExAC gnomAD ClinGen
TCGA novel	979	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA310114566 rs374346644	980	C>S		No	gnomAD ClinGen
rs1422573843 CA407455677	981	N>S		No	ClinGen TOPMed
rs752280342 CA310114569	982	Q>R		No	ExAC gnomAD ClinGen
rs749548696 CA310114573	985	V>I		No	ExAC TOPMed gnomAD ClinGen
rs978628851 CA310114575	990	G>C		No	gnomAD ClinGen
TCGA novel	992	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA310114577 rs770971017	993	P>H		No	ClinGen TOPMed
CA310114583 rs751399539	995	G>E		No	ExAC gnomAD ClinGen
TCGA novel	996	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA310114590 rs746119168	997	S>N		No	ExAC TOPMed gnomAD ClinGen
CA310114591 rs746119168	997	S>T		No	ExAC TOPMed gnomAD ClinGen
CA310114596 rs779948334	1000	K>R		No	ExAC gnomAD ClinGen
CA407456682 rs1568543541	1002	L>R		No	Ensembl ClinGen
rs749383131 CA310114598	1002	L>V		No	ExAC TOPMed gnomAD ClinGen
rs1275922699 CA407456793	1004	E>D		No	TOPMed ClinGen
rs1228342338 CA407456794	1005	T>P		No	TOPMed ClinGen
rs769085492 CA310114600	1008	C>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA407456999 rs774901067	1010	S>I		No	ClinGen ExAC gnomAD
CA310114601 rs774901067	1010	S>N		No	ClinGen ExAC gnomAD
CA310114604 rs748495468	1011	G>D		No	ExAC TOPMed gnomAD ClinGen
rs776314155 CA310114606	1012	T>I		No	ExAC gnomAD ClinGen
rs759064470 CA310114608	1014	R>Q		No	ClinGen ExAC gnomAD
CA310114607 rs996672212	1014	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA310114611 rs775078034	1015	T>A		No	ExAC gnomAD ClinGen
CA310114612 rs375435486	1015	T>I		No	ESP ExAC TOPMed ClinGen
CA310114614 rs751596472	1017	R>G		No	ExAC gnomAD ClinGen
CA310115435 rs12768	1020	I>M		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA310115437 rs771471210	1021	D>G		No	ExAC gnomAD ClinGen
rs747325012 CA310115436 COSM3797536	1021	D>H	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA407460615 rs1164552934	1023	F>L		No	gnomAD ClinGen
CA407460635 rs369767424	1023	F>L		No	ESP ExAC gnomAD ClinGen
rs1467652508 CA407460687	1025	D>N		No	gnomAD ClinGen
CA407460721 rs1164249967	1026	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs113044431 CA310115443	1028	N>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs761389973 CA310115444	1029	K>N		No	ExAC gnomAD ClinGen
rs986416135 CA407460850	1031	L>P		No	TOPMed gnomAD ClinGen
rs986416135 CA310115446	1031	L>Q		No	TOPMed gnomAD ClinGen
RCV000955575 CA310115447 rs61735075	1032	E>V		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA310115450 rs373636948	1034	I>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA310115449 rs373636948	1034	I>T		No	ESP ExAC TOPMed gnomAD ClinGen
rs61735076 RCV000966078 CA310115448	1034	I>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs753661640 CA310115451	1035	E>A		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	1036	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs180727055 CA310115453	1037	K>E		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA310115455 rs765452508	1038	N>K		No	ExAC gnomAD ClinGen
rs745782532	1038	N>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs752718361 CA310115456	1039	P>Q		No	ExAC gnomAD ClinGen
rs1602466519 CA407461119	1040	Q>P		No	Ensembl ClinGen
rs139504696 CA310115458	1042	I>V		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1568553530 CA407461298 COSM1741587	1046	E>K	urinary_tract [Cosmic]	No	Ensembl ClinGen cosmic curated
CA407461422 rs1168964890	1050	P>L		No	ClinGen gnomAD
CA407461421 rs1168964890	1050	P>R		No	ClinGen gnomAD
CA310115459 rs778124002	1051	W>*		No	ExAC gnomAD ClinGen
TCGA novel	1051	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1043673 VAR_020006 CA310115460	1052	A>E		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
CA310115461 rs757870937	1054	R>G		No	ExAC TOPMed gnomAD ClinGen
rs768355874 CA310115465	1056	S>P		No	ExAC gnomAD ClinGen
CA407461580 rs1340742935	1057	S>F		No	gnomAD ClinGen
CA407461573 rs1568553637	1057	S>T		No	Ensembl ClinGen
rs1220301290 CA407461589	1058	H>D		No	gnomAD ClinGen
TCGA novel	1058	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1059	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149992714 CA310115468	1061	M>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs149992714 CA310115469	1061	M>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA310115470 rs866628349	1062	I>M		No	TOPMed ClinGen
CA407461744 rs1219684077	1063	I>L		No	ClinGen gnomAD

No associated diseases with Q9NX02

8 regional properties for Q9NX02

Type	Name	Position	InterPro Accession
repeat	Leucine-rich repeat	810 - 831	IPR001611-1
repeat	Leucine-rich repeat	869 - 889	IPR001611-2
repeat	Leucine-rich repeat	925 - 946	IPR001611-3
repeat	Leucine-rich repeat	981 - 1002	IPR001611-4
domain	DAPIN domain	1 - 94	IPR004020
domain	NACHT nucleoside triphosphatase	207 - 405	IPR007111
domain	NOD2, winged helix domain	446 - 501	IPR041075
domain	NACHT, LRR and PYD domains-containing protein, helical domain HD2	503 - 620	IPR041267

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.

2 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
Pyrin domain binding	Binding to a Pyrin (PAAD/DAPIN) domain, a protein-protein interaction domain that has the same fold as the Death domain.

8 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
inflammatory response	The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
negative regulation of NF-kappaB transcription factor activity	Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of the transcription factor NF-kappaB.
negative regulation of tumor necrosis factor-mediated signaling pathway	Any process that decreases the rate or extent of the tumor necrosis factor-mediated signaling pathway. The tumor necrosis factor-mediated signaling pathway is the series of molecular signals generated as a consequence of tumor necrosis factor binding to a cell surface receptor.
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	Any process that activates or increases the activity of a cysteine-type endopeptidase involved in the apoptotic process.
positive regulation of interleukin-1 beta production	Any process that activates or increases the frequency, rate, or extent of interleukin-1 beta production.
regulation of inflammatory response	Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q86W26	NLRP10	NACHT, LRR and PYD domains-containing protein 10	Homo sapiens (Human)	PR
Q96P20	NLRP3	NACHT, LRR and PYD domains-containing protein 3	Homo sapiens (Human)	EV
P59046	NLRP12	NACHT, LRR and PYD domains-containing protein 12	Homo sapiens (Human)	SS

10	20	30	40	50	60
MVSSAQMGFN	LQALLEQLSQ	DELSKFKYLI	TTFSLAHELQ	KIPHKEVDKA	DGKQLVEILT
70	80	90	100	110	120
THCDSYWVEM	ASLQVFEKMH	RMDLSERAKD	EVREAALKSF	NKRKPLSLGI	TRKERPPLDV
130	140	150	160	170	180
DEMLERFKTE	AQAFTETKGN	VICLGKEVFK	GKKPDKDNRC	RYILKTKFRE	MWKSWPGDSK
190	200	210	220	230	240
EVQVMAERYK	MLIPFSNPRV	LPGPFSYTVV	LYGPAGLGKT	TLAQKLMLDW	AEDNLIHKFK
250	260	270	280	290	300
YAFYLSCREL	SRLGPCSFAE	LVFRDWPELQ	DDIPHILAQA	RKILFVIDGF	DELGAAPGAL
310	320	330	340	350	360
IEDICGDWEK	KKPVPVLLGS	LLNRVMLPKA	ALLVTTRPRA	LRDLRILAEE	PIYIRVEGFL
370	380	390	400	410	420
EEDRRAYFLR	HFGDEDQAMR	AFELMRSNAA	LFQLGSAPAV	CWIVCTTLKL	QMEKGEDPVP
430	440	450	460	470	480
TCLTRTGLFL	RFLCSRFPQG	AQLRGALRTL	SLLAAQGLWA	QTSVLHREDL	ERLGVQESDL
490	500	510	520	530	540
RLFLDGDILR	QDRVSKGCYS	FIHLSFQQFL	TALFYTLEKE	EEEDRDGHTW	DIGDVQKLLS
550	560	570	580	590	600
GVERLRNPDL	IQAGYYSFGL	ANEKRAKELE	ATFGCRMSPD	IKQELLRCDI	SCKGGHSTVT
610	620	630	640	650	660
DLQELLGCLY	ESQEEELVKE	VMAQFKEISL	HLNAVDVVPS	SFCVKHCRNL	QKMSLQVIKE
670	680	690	700	710	720
NLPENVTASE	SDAEVERSQD	DQHMLPFWTD	LCSIFGSNKD	LMGLAINDSF	LSASLVRILC
730	740	750	760	770	780
EQIASDTCHL	QRVVFKNISP	ADAHRNLCLA	LRGHKTVTYL	TLQGNDQDDM	FPALCEVLRH
790	800	810	820	830	840
PECNLRYLGL	VSCSATTQQW	ADLSLALEVN	QSLTCVNLSD	NELLDEGAKL	LYTTLRHPKC
850	860	870	880	890	900
FLQRLSLENC	HLTEANCKDL	AAVLVVSREL	THLCLAKNPI	GNTGVKFLCE	GLRYPECKLQ
910	920	930	940	950	960
TLVLWNCDIT	SDGCCDLTKL	LQEKSSLLCL	DLGLNHIGVK	GMKFLCEALR	KPLCNLRCLW
970	980	990	1000	1010	1020
LWGCSIPPFS	CEDLCSALSC	NQSLVTLDLG	QNPLGSSGVK	MLFETLTCSS	GTLRTLRLKI
1030	1040	1050	1060
DDFNDELNKL	LEEIEEKNPQ	LIIDTEKHHP	WAERPSSHDF	MI