AiPD: Autoinhibited Protein Database

Q8NE09

Gene name	RGS22
Protein name	Regulator of G-protein signaling 22
Names	RGS22
Species	Homo sapiens (Human)
KEGG Pathway	hsa:26166
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

50-120 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

50-120 (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 Q8NE09

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8NE09-F1	Predicted				AlphaFoldDB

998 variants for Q8NE09

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA371807190 rs1367322917	2	P>L		No	ClinGen TOPMed
rs376675897 CA4826589	3	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs757728940 CA371807161	4	K>N		No	ClinGen ExAC gnomAD
CA4826588 rs186700410	4	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA182389126 rs993516236	7	T>A		No	ClinGen TOPMed gnomAD
rs899255427 CA182389122	8	A>S		No	ClinGen TOPMed gnomAD
rs1330845664 CA371807129	9	E>K		No	ClinGen gnomAD
CA4826571 rs779292644	10	P>L		No	ClinGen ExAC TOPMed gnomAD
rs779292644 CA371806771	10	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs757599481 CA4826570	11	P>S		No	ClinGen ExAC gnomAD
CA371806766 rs757599481	11	P>T		No	ClinGen ExAC gnomAD
CA4826568 rs376672627	13	I>T		No	ClinGen ESP ExAC gnomAD
rs368568690 CA4826569	13	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs751002688 CA4826566	14	T>A		No	ClinGen ExAC gnomAD
CA4826565 rs765886901	14	T>I		No	ClinGen ExAC gnomAD
rs966125335 CA182388688	15	E>D		No	ClinGen TOPMed gnomAD
CA4826563 rs182635661	16	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1363769106 COSM263326 CA371806699 COSM263327	17	E>*	large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs765060844 CA4826562	18	F>L		No	ClinGen ExAC
TCGA novel	19	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753521826 CA4826533	22	L>V		No	ClinGen ExAC
rs1393702170 CA371804386	24	T>I		No	ClinGen TOPMed
CA371804373 rs1245086323	25	D>G		No	ClinGen gnomAD
rs1483572152 CA371804311	29	V>I		No	ClinGen gnomAD
rs1342463757 CA371804288	30	D>V		No	ClinGen gnomAD
rs764006946 CA4826531	36	L>I		No	ClinGen ExAC gnomAD
rs752664916 CA371803046	42	S>*		No	ClinGen ExAC gnomAD
TCGA novel	42	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4826511 rs752664916	42	S>L		No	ClinGen ExAC gnomAD
rs1226025213 CA371803050	42	S>P		No	ClinGen gnomAD
CA371803030 TCGA novel rs1307879281	43	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
CA182371957 rs1026181387	44	A>E		No	ClinGen TOPMed gnomAD
CA182371958 rs954380045	44	A>T		No	ClinGen TOPMed gnomAD
CA4826510 rs371278331	45	I>V		No	ClinGen ESP ExAC gnomAD
CA371803003 rs1457571498	46	R>K		No	ClinGen gnomAD
CA371802980 rs1269733570	48	N>H		No	ClinGen TOPMed
rs774238691 CA4826508	50	D>G		No	ClinGen ExAC gnomAD
rs936286354 CA182371940	52	G>R		No	ClinGen Ensembl
rs971995350 CA182371939	54	F>S		No	ClinGen TOPMed gnomAD
rs1174344775 CA371802887	55	E>Q		No	ClinGen TOPMed
CA4826507 rs766503996	56	V>I		No	ClinGen ExAC TOPMed gnomAD
CA4826506 rs773471291	57	A>D		No	ClinGen ExAC gnomAD
CA4826505 rs773471291	57	A>V		No	ClinGen ExAC gnomAD
rs376807385 CA4826504	58	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA4826503 rs762230282	59	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1487941499 CA371802826	60	A>S		No	ClinGen gnomAD
CA371802816 rs768984416	61	P>A		No	ClinGen ExAC TOPMed gnomAD
rs768984416 CA4826501	61	P>S		No	ClinGen ExAC TOPMed gnomAD
rs747570913 CA4826499	62	Q>P		No	ClinGen ExAC gnomAD
rs778242333 CA4826498	65	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA4826497 rs770519864	66	K>E		No	ClinGen ExAC gnomAD
CA4826496 rs748929973	66	K>N		No	ClinGen ExAC gnomAD
rs553173991 CA4826495	67	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755971463 CA4826494	71	I>N		No	ClinGen ExAC
rs1344877867	71	I>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA4826493 rs539267774	73	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4826491 rs754824558	75	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA371802691 rs1387939694	77	P>S		No	ClinGen gnomAD
CA371802686 rs1158375566	78	R>*		No	ClinGen gnomAD
COSM1094268 CA182371790 rs1024418694 COSM1094269	78	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA371802675 rs1411691558	80	P>T		No	ClinGen gnomAD
CA371802667 rs1197450342	81	I>F		No	ClinGen TOPMed
CA371802669 rs1197450342	81	I>V		No	ClinGen TOPMed
rs1199285979 CA371802632	86	R>K		No	ClinGen gnomAD
CA4826490 rs751547612	87	K>E		No	ClinGen ExAC gnomAD
CA182371735 rs866620147	88	G>E		No	ClinGen TOPMed
rs1264828821 CA371802614	89	K>E		No	ClinGen gnomAD
CA371802595 rs1190038425	91	E>K		No	ClinGen gnomAD
CA182371722 rs190877092	94	P>L		No	ClinGen 1000Genomes
rs1563710603 CA371802560	95	V>I		No	ClinGen Ensembl
CA182371704 rs751546168	97	M>I		No	ClinGen gnomAD
rs1326265952 CA371802532	97	M>V		No	ClinGen gnomAD
rs1232994278 CA371802498	99	A>S		No	ClinGen TOPMed gnomAD
rs1232994278 CA371802501	99	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs144107646 CA4826485	101	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1379149565 CA371802455	102	E>D		No	ClinGen gnomAD
rs1436038185 CA371802462	102	E>Q		No	ClinGen gnomAD
rs369056156 CA4826483	103	D>E		No	ClinGen ESP ExAC gnomAD
CA4826484 rs765374887	103	D>G		No	ClinGen ExAC gnomAD
rs1033534829 CA182371673	105	T>A		No	ClinGen gnomAD
rs1365869452 CA371802417	105	T>I		No	ClinGen TOPMed
CA371802423 rs1033534829	105	T>S		No	ClinGen gnomAD
rs769092442 CA4826481	106	I>S		No	ClinGen ExAC TOPMed gnomAD
rs776929078 CA4826482	106	I>V		No	ClinGen ExAC TOPMed gnomAD
rs761051359 CA4826480	107	N>D		No	ClinGen ExAC gnomAD
CA371802392 rs1375669347	107	N>S		No	ClinGen gnomAD
CA4826478 rs770337582	110	Y>*		No	ClinGen ExAC gnomAD
rs185959379 CA4826479	110	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1170123309 CA371802359	110	Y>D		No	ClinGen gnomAD
rs777429201 CA4826476	113	M>I		No	ClinGen ExAC gnomAD
CA371802314 rs1442876768	113	M>T		No	ClinGen TOPMed
CA4826477 rs748876757	113	M>V		No	ClinGen ExAC gnomAD
CA4826452 rs375674326	114	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1230189102 CA371801445	115	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1483079815 CA371801443	115	L>P		No	ClinGen gnomAD
rs1230189102 CA371801447	115	L>V		No	ClinGen gnomAD
rs1283639369 CA371801441	116	S>R		No	ClinGen gnomAD
rs539219651 CA4826450	117	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA4826449 rs372209638	117	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1410226769 CA371801420	118	E>D		No	ClinGen gnomAD
rs1309705906 CA371801427	118	E>K		No	ClinGen gnomAD
rs1302829372 CA371801415	119	E>A		No	ClinGen TOPMed
COSM1453595 COSM1453596 CA182365396 rs867442961	120	G>D	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA4826447 rs369843131	121	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4826446 rs758280906	122	K>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	122	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745832841 CA4826445	123	W>*		No	ClinGen ExAC TOPMed gnomAD
CA371801366 rs1162114260	126	K>R		No	ClinGen TOPMed gnomAD
COSM110579 rs140688910 CA182365379	127	E>K	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs374656021 CA182365368	128	R>S		No	ClinGen ESP
rs778928759 COSM3833728 COSM3833727 CA4826444	128	R>T	Variant assessed as Somatic; 0.0001418 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	135	S>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371801291 rs1414844809	137	C>S		No	ClinGen gnomAD
CA4826443 rs757372878	139	F>S		No	ClinGen ExAC gnomAD
CA4826442 rs753996968	141	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1429476853 CA371801221	145	K>R		No	ClinGen TOPMed
TCGA novel	146	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1170779052 CA371801184	151	R>G		No	ClinGen TOPMed
rs1355891226 COSM485864 CA371801176	152	W>R	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1268819880 CA371801167	153	S>G		No	ClinGen gnomAD
CA371801164 rs1209333597	153	S>N		No	ClinGen TOPMed gnomAD
rs749325467 CA4826424	153	S>R		No	ClinGen ExAC
rs773316669 CA182364777	156	G>D		No	ClinGen TOPMed
rs752894416 CA4826421	156	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1367972575 CA371801143	157	M>L		No	ClinGen gnomAD
CA371801131 rs1273899869	158	N>T		No	ClinGen gnomAD
CA371801116 rs1312830323	160	T>S		No	ClinGen TOPMed
rs1394513851 CA583884929	161	V>A		No	ClinGen gnomAD
rs767963551 CA4826420	162	G>A		No	ClinGen ExAC gnomAD
CA371801100 rs1366786525	163	S>P		No	ClinGen gnomAD
CA4826419 rs755443419	164	N>H		No	ClinGen ExAC gnomAD
rs1378250304 CA371801093	164	N>I		No	ClinGen TOPMed
rs1378250304 CA371801092	164	N>S		No	ClinGen TOPMed
rs371812936 CA182364748	165	F>Y		No	ClinGen ESP TOPMed gnomAD
TCGA novel	166	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752106923 CA4826418	167	P>L	Variant assessed as Somatic; 9.277e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA371801066 rs1415427882	168	W>*		No	ClinGen gnomAD
rs1178802717 CA371801068	168	W>G		No	ClinGen gnomAD
rs1178802717 CA371801069	168	W>R		No	ClinGen gnomAD
rs267601675 CA182364725	169	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM3781349 CA4826416 COSM3781348 rs140892038	170	V>M	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	172	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1586202719 CA371801037	172	K>N		No	ClinGen Ensembl
CA4826414 rs565364266	172	K>T		No	ClinGen 1000Genomes ExAC
rs1202402995 CA371801031	173	P>L		No	ClinGen TOPMed
rs906294316 CA182364706	173	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1042001065 CA182364699	175	S>N		No	ClinGen TOPMed gnomAD
rs1416524661 CA371801019	175	S>R		No	ClinGen gnomAD
CA371801021 rs1042001065	175	S>T		No	ClinGen TOPMed gnomAD
rs1037162736 CA182364691	176	L>I		No	ClinGen TOPMed
rs1231682510 CA371801001	179	P>S		No	ClinGen gnomAD
CA371800993 rs1343834503	180	A>S		No	ClinGen gnomAD
CA371800988 rs1297772599	181	T>A		No	ClinGen TOPMed gnomAD
CA4826409 rs759396804	181	T>I		No	ClinGen ExAC gnomAD
CA371800984 rs1476644551	182	E>K		No	ClinGen TOPMed
CA4826407 rs373021500	185	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA182364652 rs866906202	186	L>F		No	ClinGen Ensembl
rs749209165 CA4826405	186	L>H		No	ClinGen ExAC gnomAD
CA371800940 rs1311432062	188	I>S		No	ClinGen gnomAD
rs945076907 CA182364647	189	M>K		No	ClinGen TOPMed
rs377735365 CA4826404	191	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs769807073 CA4826403	192	F>V		No	ClinGen ExAC gnomAD
rs201436457 CA4826402	193	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA371800881 rs201436457	193	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1563698859 CA371800868 COSM50683 COSM1453590	194	V>A	large_intestine breast [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1359532628 CA371800853	195	S>*		No	ClinGen TOPMed
rs761369913 CA182364639	195	S>T		No	ClinGen TOPMed gnomAD
CA4826401 rs370213562	197	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4826400 rs201153468	198	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA182361377 rs768948430	199	A>D		No	ClinGen ExAC TOPMed gnomAD
rs768948430 CA4826380	199	A>V		No	ClinGen ExAC TOPMed gnomAD
rs747264200 CA4826379	201	Y>C		No	ClinGen ExAC gnomAD
CA371800579 rs1230730023	203	Q>H		No	ClinGen gnomAD
rs979004824 CA182361350	204	T>A		No	ClinGen TOPMed gnomAD
rs780532532 CA4826378	204	T>I		No	ClinGen ExAC TOPMed gnomAD
CA371800574 rs780532532	204	T>R		No	ClinGen ExAC TOPMed gnomAD
CA371800563 rs1381488747	206	D>Y		No	ClinGen gnomAD
CA4826377 rs758736038	207	W>R		No	ClinGen ExAC gnomAD
rs1457479099 CA371800528	211	A>T		No	ClinGen gnomAD
CA371800515 rs1392329209	212	K>N		No	ClinGen gnomAD
rs779352613 CA4826375	213	Q>*		No	ClinGen ExAC gnomAD
CA371800512 rs1458732177	213	Q>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA371800502 rs1386167478	214	S>N		No	ClinGen gnomAD
rs752149172 CA4826373	214	S>R		No	ClinGen ExAC gnomAD
CA4826371 rs767038786	216	Q>K		No	ClinGen ExAC gnomAD
CA182361295 rs1020219415	217	T>I		No	ClinGen Ensembl
rs754587329 CA4826370	218	V>A		No	ClinGen ExAC gnomAD
CA371800452 rs1250563210	222	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA371800432 rs1330408632	225	C>S		No	ClinGen gnomAD
rs200474479 CA371800422	226	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs200474479 CA4826368	226	C>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA182361263 rs772703177	228	P>S		No	ClinGen Ensembl
rs1466593582 CA371800406	229	Y>C		No	ClinGen TOPMed
rs1207224371 CA371800401	230	N>D		No	ClinGen TOPMed
rs773198055 CA371800396	230	N>K		No	ClinGen ExAC TOPMed gnomAD
rs200353487 CA182361235	230	N>S		No	ClinGen Ensembl
rs765025766 CA4826365	233	K>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	235	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA182361222 rs897629864	235	P>Q		No	ClinGen TOPMed
CA4826364 rs761863417	235	P>S		No	ClinGen ExAC gnomAD
rs1386397985 CA371800360	236	A>G		No	ClinGen gnomAD
CA4826362 rs537187201	240	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1437274717 CA371800333	241	S>P		No	ClinGen gnomAD
CA371800264 rs1563690331	242	E>A		No	ClinGen Ensembl
CA4826341 rs775639903	242	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs772130451 CA4826340	243	N>H		No	ClinGen ExAC TOPMed gnomAD
CA371800259 rs772130451	243	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs1449564951 CA371800220	248	D>N		No	ClinGen TOPMed gnomAD
TCGA novel	249	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371800200 rs1352624299	251	H>Y		No	ClinGen TOPMed
rs774542093 CA4826338	252	P>R		No	ClinGen ExAC TOPMed gnomAD
rs375083292 CA4826337	253	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA371800188 rs1385342451	253	R>K		No	ClinGen TOPMed
TCGA novel	261	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM603453 rs139754977 CA4826335 COSM603452	262	N>K	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA182359814 rs1029006783	263	K>R		No	ClinGen TOPMed gnomAD
CA371800117 rs1029006783	263	K>T		No	ClinGen TOPMed gnomAD
rs1271505523 CA371800105	265	I>V		No	ClinGen TOPMed
CA4826334 rs778313138	272	E>G		No	ClinGen ExAC gnomAD
CA182359790 rs996389665	273	G>*		No	ClinGen TOPMed
CA371800043 rs1563690039	273	G>E		No	ClinGen Ensembl
rs73702154 CA4826329	274	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA371800034 rs1465761280	275	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA371800021 rs1563689987	276	E>V		No	ClinGen Ensembl
rs1373337201 CA371799999	279	S>Y		No	ClinGen gnomAD
rs746451297 CA4826325	281	S>F		No	ClinGen ExAC gnomAD
CA4826324 rs779637070	282	L>V		No	ClinGen ExAC gnomAD
CA4826323 rs757947121	283	Q>P		No	ClinGen ExAC gnomAD
CA4826321 rs778548965	286	P>H		No	ClinGen ExAC gnomAD
rs932703758 CA371799950	288	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs932703758 CA182359740	288	Q>K		No	ClinGen TOPMed
CA371799926 rs1254376836	292	R>*		No	ClinGen gnomAD
CA371799920 rs1183225299	293	V>I		No	ClinGen gnomAD
rs1183225299 CA371799918	293	V>L		No	ClinGen gnomAD
CA4826319 rs201668257	294	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA371799883 rs1271052090	298	K>*		No	ClinGen gnomAD
CA371799872 rs1366112985	299	Q>L		No	ClinGen TOPMed
CA371799867 rs1432992104	300	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA4826316 rs760698210	301	V>A		No	ClinGen ExAC TOPMed gnomAD
CA182359657 rs1039266445	302	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA182359648 rs994453098	304	S>N		No	ClinGen TOPMed
rs1289971787 CA371799824	306	T>I		No	ClinGen TOPMed gnomAD
rs1289971787 CA371799825	306	T>R		No	ClinGen TOPMed gnomAD
CA371799820 rs1563689593	307	M>T		No	ClinGen Ensembl
CA4826313 rs759649406	307	M>V		No	ClinGen ExAC gnomAD
rs774686789 CA4826312	308	H>L		No	ClinGen ExAC gnomAD
CA4826309 rs368345586	312	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
COSM399233 CA371799785 COSM399234 rs1586179269	312	C>S	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs773571316 CA4826308	312	C>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	312	C>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770236774 CA4826307	313	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA182359606 COSM263325 COSM263324 rs927933217	314	E>*	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs541440740 CA4826305	315	F>I		No	ClinGen 1000Genomes ExAC gnomAD
COSM3833723 rs541440740 CA4826306 COSM3833724	315	F>L	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA182359598 rs572545818	317	S>I		No	ClinGen 1000Genomes
COSM1094256 rs1469886638 COSM1094257 CA371799743	318	S>F	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1201208331 CA371799728	320	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA371799695 rs1252417109	325	R>K		No	ClinGen gnomAD
CA4826302 rs771660487	326	G>E		No	ClinGen ExAC gnomAD
CA4826301 rs745491621	327	A>T		No	ClinGen ExAC gnomAD
rs756970031 CA4826299	328	I>M		No	ClinGen ExAC gnomAD
rs778772647 CA4826300	328	I>V		No	ClinGen ExAC gnomAD
CA371799658 rs1349623074	331	I>V		No	ClinGen gnomAD
rs867575959 CA182359584	333	G>*		No	ClinGen Ensembl
CA182359583 rs868782094	335	P>L		No	ClinGen Ensembl
rs763021411 CA371799627	336	V>F		No	ClinGen ExAC TOPMed gnomAD
CA4826298 rs763021411	336	V>I		No	ClinGen ExAC TOPMed gnomAD
CA4826296 rs756080918	337	G>E		No	ClinGen ExAC TOPMed gnomAD
rs777735631 CA4826297	337	G>R		No	ClinGen ExAC TOPMed gnomAD
rs752724928 CA4826295	338	E>D		No	ClinGen ExAC gnomAD
CA4826294 rs767475783	339	T>N		No	ClinGen ExAC TOPMed gnomAD
rs759720638 CA4826293	340	P>S		No	ClinGen ExAC TOPMed gnomAD
rs914484482 CA182359558	341	D>H		No	ClinGen Ensembl
CA371799583 rs1316379781	343	I>T		No	ClinGen TOPMed
rs1406184868 CA371799568	345	F>S		No	ClinGen gnomAD
rs766523583 CA4826291	347	N>S		No	ClinGen ExAC gnomAD
rs773524280 CA4826289	348	I>T		No	ClinGen ExAC gnomAD
rs376054141 CA4826290	348	I>V	Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs770181899 CA4826288	349	T>I		No	ClinGen ExAC gnomAD
rs1437237321 CA371799538	350	K>E		No	ClinGen TOPMed
rs762204039 CA4826287	350	K>N		No	ClinGen ExAC gnomAD
rs777251698 CA4826286	351	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1344113197 CA371799509	354	D>G		No	ClinGen TOPMed
CA371799503 rs1269159207	355	D>Y		No	ClinGen TOPMed
rs150650635 CA4826284	356	C>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4826282 rs371403021	359	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs755990683 CA4826279	360	I>M		No	ClinGen ExAC TOPMed gnomAD
rs187519810 CA4826281	360	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781257889 CA4826277	361	H>R		No	ClinGen ExAC gnomAD
CA4826278 rs748025858	361	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA182359448 rs1023159036	364	N>D		No	ClinGen Ensembl
CA371799431 rs1336556608	365	F>L		No	ClinGen gnomAD
CA4826276 rs754877969	365	F>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	366	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	366	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758585403 CA4826272	370	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1412411147 CA371799382	372	T>I		No	ClinGen TOPMed
CA371799379 rs1475034508	373	T>A		No	ClinGen TOPMed gnomAD
CA371799377 rs1157082270	373	T>I		No	ClinGen TOPMed
rs1384450471 CA371799345	378	E>Q		No	ClinGen TOPMed
CA4826269 rs762301301	380	I>T		No	ClinGen ExAC gnomAD
TCGA novel	381	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371799320 rs1305019981	381	E>A		No	ClinGen TOPMed
rs1404847236 CA371799301	384	S>G		No	ClinGen TOPMed
CA4826268 rs776860096	387	S>L		No	ClinGen ExAC gnomAD
CA4826266 rs761106299	388	K>E		No	ClinGen ExAC gnomAD
CA182359337 rs112610056	388	K>N		No	ClinGen Ensembl
CA4826265 rs773962187	389	N>K		No	ClinGen ExAC TOPMed gnomAD
rs770608441 CA4826264	390	E>K		No	ClinGen ExAC TOPMed gnomAD
rs373690867 CA4826263	391	S>N		No	ClinGen ESP ExAC gnomAD
CA4826262 rs773060434	392	A>T		No	ClinGen ExAC TOPMed gnomAD
CA4826260 rs747911660	395	E>D		No	ClinGen ExAC gnomAD
CA182359269 rs200992361	396	S>N		No	ClinGen 1000Genomes
CA182359271 rs200992361	396	S>T		No	ClinGen 1000Genomes
rs1431839260 CA371799217	397	R>G		No	ClinGen gnomAD
CA4826259 rs2446927	397	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4826258 rs2446927 VAR_051797	397	R>M		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
COSM170305 CA4826257 rs370599090	398	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs758531012 CA4826255	400	W>*		No	ClinGen ExAC TOPMed gnomAD
CA4826254 rs750639392	400	W>C		No	ClinGen ExAC gnomAD
CA371799195 rs758531012	400	W>L		No	ClinGen ExAC TOPMed gnomAD
CA4826253 rs765430343	402	I>V		No	ClinGen ExAC gnomAD
CA4826250 rs754180206	404	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	406	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373041410 COSM1453581 CA4826248 COSM79038	407	Y>*	ovary large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
COSM1453584 CA182359213 COSM1453585 rs750317039	407	Y>H	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA371799150 rs1563688405	407	Y>S		No	ClinGen Ensembl
CA182359207 rs947211830	409	I>S		No	ClinGen gnomAD
CA371799135 rs947211830	409	I>T		No	ClinGen gnomAD
CA371799128 rs1268157496	410	G>D		No	ClinGen gnomAD
CA371799125 rs1292685483	411	N>D		No	ClinGen TOPMed gnomAD
CA4826245 rs762622955	414	E>Q		No	ClinGen ExAC gnomAD
rs772853510 CA4826244	416	E>*		No	ClinGen ExAC gnomAD
rs769429803 CA4826243	417	R>G		No	ClinGen ExAC gnomAD
rs1165596385 CA371799080	417	R>K		No	ClinGen TOPMed
CA4826242 rs201859997	418	F>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201859997 CA182359183	418	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA371799065 rs1340335897	419	K>R		No	ClinGen gnomAD
COSM1453577 COSM1453578 CA371799048 rs1424041387	421	F>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA4826241 rs376300874	426	L>F		No	ClinGen ESP ExAC gnomAD
rs768383490 CA4826240	428	E>K		No	ClinGen ExAC gnomAD
rs1586177527 CA371798997	429	R>K		No	ClinGen Ensembl
CA371798988 rs1467322025	430	Y>C		No	ClinGen Ensembl
CA4826239 rs138159608	430	Y>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA371798969 rs761792142	432	W>*		No	ClinGen TOPMed
CA182359156 rs761792142	432	W>C		No	ClinGen TOPMed
CA371798960 rs1167065678	434	W>*		No	ClinGen gnomAD
CA4826237 rs759836151	437	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1461873531 CA371798936	437	I>V		No	ClinGen TOPMed gnomAD
rs745885894 CA4826236	439	R>K		No	ClinGen ExAC gnomAD
TCGA novel	439	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1473418208 CA371798900	442	V>F		No	ClinGen gnomAD
COSM145862 rs778878247 COSM1317205 CA4826235	446	P>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA371798863 rs1586177320	448	R>G		No	ClinGen Ensembl
CA4826233 rs754050156	449	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs544848735 CA4826232	451	R>K		No	ClinGen ExAC TOPMed gnomAD
rs920870860 CA182358769	456	M>T		No	ClinGen TOPMed
rs749516216 CA4826212	457	K>E		No	ClinGen ExAC gnomAD
rs777928964 CA4826211	460	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1216808700 CA371798762	460	Y>H		No	ClinGen TOPMed
TCGA novel	461	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371798755 rs1307314065	461	L>V		No	ClinGen TOPMed
rs1368826349 CA371798744	463	S>G		No	ClinGen gnomAD
CA371798723 rs1204633258	466	D>N		No	ClinGen TOPMed
CA4826209 rs753054983	467	Y>D		No	ClinGen ExAC TOPMed gnomAD
CA4826210 rs753054983	467	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs1563687169 CA371798706	468	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs781707118 CA4826208	468	Y>H		No	ClinGen ExAC gnomAD
TCGA novel	469	L>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4826207 rs755503865	470	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1436453903 CA371798676	473	I>V		No	ClinGen Ensembl
COSM3698735 COSM3698736 CA4826206 rs774904357	475	S>P	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1173817765 CA371798657	476	K>E		No	ClinGen TOPMed gnomAD
CA4826205 rs764788673	476	K>R		No	ClinGen ExAC gnomAD
CA4826204 rs761296421	478	K>E		No	ClinGen ExAC gnomAD
CA371798643 rs761296421	478	K>Q		No	ClinGen ExAC gnomAD
rs369355942 CA4826203	481	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs865920711 CA182358700	481	D>Y		No	ClinGen Ensembl
CA4826201 rs760338753	485	W>G		No	ClinGen ExAC TOPMed gnomAD
rs775222030 CA4826200	485	W>S		No	ClinGen ExAC TOPMed gnomAD
CA4826199 CA371798585 rs767338868	486	N>K		No	ClinGen ExAC gnomAD
rs1345879966 CA371798566	489	H>Y		No	ClinGen gnomAD
rs1371574339 CA371798556	490	L>*		No	ClinGen Ensembl
CA4826197 rs774216223	491	R>K		No	ClinGen ExAC gnomAD
rs1176865078 CA371798543	492	N>S		No	ClinGen TOPMed
TCGA novel	492	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4826196 rs771043124	493	I>N		No	ClinGen ExAC TOPMed gnomAD
rs771043124 CA371798535	493	I>T		No	ClinGen ExAC TOPMed gnomAD
CA371798531 rs1326962369	494	Q>*		No	ClinGen gnomAD
CA371798529 rs1468399207	494	Q>R		No	ClinGen TOPMed
CA4826195 rs529511396	495	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA371798515 rs1345882243	496	E>V		No	ClinGen TOPMed
TCGA novel	500	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs573965315 CA4826194	502	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA4826193 rs376900461	503	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4826177 rs762970151	506	A>T		No	ClinGen ExAC
rs1182748346 CA371798159	507	P>Q		No	ClinGen TOPMed gnomAD
rs1234839515 CA371798161	507	P>S		No	ClinGen gnomAD
CA4826174 rs770035197	509	F>S		No	ClinGen ExAC gnomAD
CA371798150 rs1563675060	509	F>V		No	ClinGen Ensembl
TCGA novel	511	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748359793 CA4826173	512	T>A		No	ClinGen ExAC gnomAD
rs1387253522 CA371798107	515	A>D		No	ClinGen TOPMed
TCGA novel	516	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371798098 rs1469761705	517	T>A		No	ClinGen gnomAD
CA4826172 rs777058901	518	K>R		No	ClinGen ExAC gnomAD
rs747279564 CA4826170	521	S>G		No	ClinGen ExAC gnomAD
rs1280971774 CA371798056	523	E>K		No	ClinGen TOPMed gnomAD
rs1239286846 CA371798050	524	L>M		No	ClinGen TOPMed gnomAD
CA371798049 rs1239286846	524	L>V		No	ClinGen TOPMed gnomAD
CA182354267 rs372035043	525	K>R		No	ClinGen TOPMed
rs1334719568 CA371798028	527	W>G		No	ClinGen gnomAD
rs1326279000 CA371798015	528	H>Q		No	ClinGen TOPMed gnomAD
rs137870439 CA4826168	529	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs137870439 CA4826169	529	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4826167 rs150724631	530	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374172601 CA4826166	530	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs972149083 CA182354248	536	K>T		No	ClinGen TOPMed
CA182354246 rs966099714	537	D>G		No	ClinGen TOPMed gnomAD
TCGA novel	537	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4826163 rs767093843	539	D>E		No	ClinGen ExAC gnomAD
rs753888585 CA4826165	539	D>H		No	ClinGen ExAC TOPMed gnomAD
rs753888585 CA4826164	539	D>N		No	ClinGen ExAC TOPMed gnomAD
CA4826162 rs754676646	540	P>S		No	ClinGen ExAC TOPMed gnomAD
COSM1674033 rs754676646 COSM1674034 CA371797944	540	P>T	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA371797916 rs1253569891	544	M>V		No	ClinGen gnomAD
CA4826161 rs751264096	545	A>T		No	ClinGen ExAC gnomAD
rs1449706747 CA371797900	546	T>N		No	ClinGen gnomAD
rs545002879 CA4826159	547	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA4826158 rs545002879	547	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA4826156 rs761916299	549	P>S		No	ClinGen ExAC TOPMed gnomAD
rs752422135 CA371797875	550	L>F		No	ClinGen gnomAD
rs2926769 CA182354202	551	R>K		No	ClinGen Ensembl
CA371797868 rs1303362652	551	R>S		No	ClinGen gnomAD
rs953973935 CA182354197	553	K>E		No	ClinGen gnomAD
CA4826154 rs768710788	553	K>I		No	ClinGen ExAC gnomAD
TCGA novel	553	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4826152 rs531358763	554	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA4826153 rs760983466	554	S>P		No	ClinGen ExAC TOPMed gnomAD
CA4826151 rs141562773	555	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746359304 CA4826150	555	C>Y		No	ClinGen ExAC gnomAD
rs1454796307 CA371797844	556	I>V		No	ClinGen TOPMed gnomAD
rs779466148 CA371797837	557	P>A		No	ClinGen ExAC TOPMed gnomAD
CA4826149 rs779466148	557	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1476998133 CA371797830	558	Q>P		No	ClinGen gnomAD
CA371797820 rs1193655087	559	I>M		No	ClinGen gnomAD
CA4826148 rs771435029	559	I>T		No	ClinGen ExAC TOPMed gnomAD
CA4826147 rs747602476	560	P>L		No	ClinGen ExAC gnomAD
CA182354163 rs562033541	560	P>S		No	ClinGen Ensembl
TCGA novel	566	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4826126 rs746629951	567	F>L		No	ClinGen ExAC gnomAD
CA4826123 rs757998246	568	S>T		No	ClinGen ExAC gnomAD
rs202105699 CA4826122	570	S>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA371797186 rs202105699	570	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4826120 rs757225127	572	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA371797170 rs1443320861	573	P>S		No	ClinGen TOPMed
rs756281626 CA4826118	577	N>S		No	ClinGen ExAC TOPMed gnomAD
CA4826117 rs756281626	577	N>T		No	ClinGen ExAC TOPMed gnomAD
CA371797131 rs1179707742	579	S>P		No	ClinGen gnomAD
rs1481350938 CA371797124	580	P>S		No	ClinGen gnomAD
TCGA novel	581	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371797096 rs767724338	584	T>I		No	ClinGen ExAC gnomAD
rs767724338 CA4826115	584	T>K		No	ClinGen ExAC gnomAD
CA4826116 rs376997077	584	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs372998744 CA4826114	586	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4826113 rs774663532	587	Q>*		No	ClinGen ExAC gnomAD
TCGA novel	589	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA182351520 rs924517345	589	P>L		No	ClinGen Ensembl
TCGA novel	591	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371797044 rs368946577	592	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4826111 rs368946577	592	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766770784 CA4826112 COSM1094244 COSM1094245	592	R>W	Variant assessed as Somatic; 0.0001393 impact. endometrium central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA371797041 rs971061787	593	E>A		No	ClinGen TOPMed gnomAD
CA182351499 rs971061787	593	E>G		No	ClinGen TOPMed gnomAD
CA4826109 rs768048587	593	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4826107 rs746467561	596	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1398041599 CA371797014	597	P>S		No	ClinGen TOPMed gnomAD
CA371797010 rs774883606	598	G>R		No	ClinGen ExAC gnomAD
CA4826106 rs774883606	598	G>S		No	ClinGen ExAC gnomAD
rs1461795322 CA371797006	598	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs771810268 CA4826105	599	S>Y		No	ClinGen ExAC gnomAD
TCGA novel	600	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745551951 CA4826104	600	S>F		No	ClinGen ExAC TOPMed gnomAD
CA4826101 rs749176528	602	D>V		No	ClinGen ExAC TOPMed gnomAD
CA182351452 rs758209709	604	V>E		No	ClinGen Ensembl
CA4826099 rs756020163	604	V>L		No	ClinGen ExAC TOPMed gnomAD
CA4826097 rs767524848	605	I>T		No	ClinGen ExAC gnomAD
CA371796949 rs1218288337	607	K>T		No	ClinGen gnomAD
CA371796946 rs1317746977	608	G>R		No	ClinGen gnomAD
rs181205438 CA4826082	610	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4826081 rs777452451	612	M>T		No	ClinGen ExAC gnomAD
CA371798418 rs1233574964	612	M>V		No	ClinGen TOPMed gnomAD
TCGA novel	615	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1473042863 CA371798371	618	V>I		No	ClinGen TOPMed gnomAD
rs148424420 CA4826079	619	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4826078 rs781231533	620	H>N		No	ClinGen ExAC gnomAD
rs755111621 CA4826077	627	I>T		No	ClinGen ExAC gnomAD
TCGA novel	628	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780185732 CA4826075	631	L>F		No	ClinGen ExAC gnomAD
rs750756331 CA4826073	632	K>N		No	ClinGen ExAC TOPMed gnomAD
rs188713602 CA4826074	632	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762358584 CA4826071	636	D>H		No	ClinGen ExAC gnomAD
rs1262894430 CA371798241	638	R>G		No	ClinGen gnomAD
rs754360542 CA4826070	638	R>I		No	ClinGen ExAC gnomAD
rs550048664 CA4826069	639	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs774013023 CA4826065	640	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4826064 rs770659718	642	T>I		No	ClinGen ExAC gnomAD
rs762545430 CA4826063	643	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	644	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs183939678 CA4826062	645	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1586090594 CA371798188	646	R>K		No	ClinGen Ensembl
rs751074740 CA4826046	648	K>R		No	ClinGen ExAC gnomAD
CA371797764 rs1586083616	649	T>I		No	ClinGen Ensembl
rs762644729 CA4826044	650	V>M		No	ClinGen ExAC TOPMed gnomAD
rs769630128 CA4826042	653	V>F		No	ClinGen ExAC gnomAD
CA371797744 rs769630128	653	V>I		No	ClinGen ExAC gnomAD
rs761451837 CA4826041	655	A>T		No	ClinGen ExAC gnomAD
CA371797712 rs1329860097	658	G>E		No	ClinGen gnomAD
CA371797715 rs1400242116	658	G>R		No	ClinGen gnomAD
rs1463383030 CA371797704	659	S>F		No	ClinGen gnomAD
rs776426300 CA4826040	661	M>T		No	ClinGen ExAC TOPMed gnomAD
CA371797675 rs1162951971	663	N>S		No	ClinGen gnomAD
CA4826038 rs746986372	664	L>M		No	ClinGen ExAC gnomAD
rs373867783 CA4826036	665	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA4826037 rs77926678	665	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1237522116 CA371797659	666	Q>E		No	ClinGen gnomAD
TCGA novel	667	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778935003 CA4826034	669	Y>C		No	ClinGen ExAC gnomAD
rs757513386 CA4826033	670	V>I		No	ClinGen ExAC gnomAD
rs910165880 CA182382754	672	N>Y		No	ClinGen Ensembl
rs1208939401 CA371797592	676	F>L		No	ClinGen gnomAD
CA4826032 rs749622818	676	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1280878923 CA371797578	678	F>L		No	ClinGen gnomAD
rs778314918 CA4826031	679	T>I		No	ClinGen ExAC TOPMed gnomAD
CA371797565 rs1375482116	680	K>Q		No	ClinGen gnomAD
CA371797537 rs765903721	683	E>A		No	ClinGen ExAC TOPMed gnomAD
CA4826028 rs765903721	683	E>G		No	ClinGen ExAC TOPMed gnomAD
CA4826029 rs753306452	683	E>K		No	ClinGen ExAC TOPMed gnomAD
CA371797515 rs1403893504	686	G>E		No	ClinGen gnomAD
CA4826009 rs755525022	689	L>F		No	ClinGen ExAC gnomAD
rs749855583 CA4826008	690	W>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	691	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1586078574 CA371797463	692	N>H		No	ClinGen Ensembl
rs1487762292 CA371797454	693	S>C		No	ClinGen gnomAD
CA4826007 rs764840035	693	S>N		No	ClinGen ExAC gnomAD
CA371797409 rs1303788802	699	D>H		No	ClinGen Ensembl
rs763868756 CA4826004	702	A>V		No	ClinGen ExAC gnomAD
CA371797380 COSM1223667 rs1345003147 COSM1223668	703	Y>C	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1341978309 CA371797367	705	Q>E		No	ClinGen gnomAD
CA4826003 COSM603465 rs760394259 COSM603464	708	Y>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA371797335 rs1218332666	709	Q>R		No	ClinGen TOPMed gnomAD
rs1035236666 CA371797323	711	T>A		No	ClinGen TOPMed gnomAD
rs1035236666 CA182381775	711	T>P		No	ClinGen TOPMed gnomAD
CA371797312 rs775367828	713	Q>*		No	ClinGen ExAC gnomAD
CA4826002 rs775367828	713	Q>K		No	ClinGen ExAC gnomAD
CA4826001 rs370309407	714	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA4826000 rs370309407	714	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA371797292 rs1563651456	716	K>E		No	ClinGen Ensembl
CA4825999 rs774265455	716	K>N		No	ClinGen ExAC
CA4825998 rs139063368	718	C>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4825997 rs749509266	718	C>W		No	ClinGen ExAC TOPMed gnomAD
rs150732363 CA4825996	721	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150732363 CA4825995	721	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747461927 CA4825971	723	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs780539824 CA4825970	724	L>I		No	ClinGen ExAC TOPMed gnomAD
rs760614193 CA182357739	727	T>A		No	ClinGen TOPMed
rs764950885 CA4825967	728	Y>*		No	ClinGen ExAC
rs200812148 CA4825966	729	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA371796381 rs1420900970	730	A>V		No	ClinGen TOPMed
TCGA novel	733	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1438386643 CA371796361	734	T>P		No	ClinGen gnomAD
CA182357693 rs542158807	736	D>G		No	ClinGen 1000Genomes
CA371796338 rs1255375574	736	D>H		No	ClinGen gnomAD
CA4825964 rs187755012	737	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA4825965 rs377319655	737	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA371796312 rs1245246325	738	G>R		No	ClinGen gnomAD
CA182357677 rs1053687914	739	L>F		No	ClinGen TOPMed gnomAD
rs780835853 CA4825962	740	Q>H		No	ClinGen ExAC gnomAD
rs1204865543 CA371796272	741	Q>K		No	ClinGen gnomAD
CA371796252 rs1237968558	742	E>G		No	ClinGen gnomAD
rs1286552386 CA371796258	742	E>K		No	ClinGen gnomAD
TCGA novel	746	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754870537 CA4825961	747	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA182357658 rs79298856	749	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA371796154 rs1563609092	749	M>V		No	ClinGen Ensembl
TCGA novel	750	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4825960 rs751319440	750	K>Q		No	ClinGen ExAC gnomAD
CA371796109 rs1387168627	752	Q>E		No	ClinGen gnomAD
rs767721262 CA182357652	753	P>A		No	ClinGen TOPMed
CA371796095 rs767721262	753	P>T		No	ClinGen TOPMed
TCGA novel	754	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4825959 rs763009403	757	D>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs554241533 CA182357651	757	D>N		No	ClinGen Ensembl
rs765453638 CA4825956	762	A>T		No	ClinGen ExAC
rs201745883 CA4825954	763	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4825952 rs768761632	764	E>D		No	ClinGen ExAC TOPMed gnomAD
CA4825953 rs769915133	764	E>K	Variant assessed as Somatic; 0.0001856 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA371795923 rs1379908672	765	Y>C		No	ClinGen gnomAD
CA371795913 rs1177380000	766	I>V		No	ClinGen gnomAD
rs1433022492 CA371795895	767	L>P		No	ClinGen gnomAD
rs761040740 CA4825951	768	L>F		No	ClinGen ExAC gnomAD
CA4825949 rs775854091	771	L>R		No	ClinGen ExAC TOPMed gnomAD
CA182357562 rs948451747	773	P>A		No	ClinGen TOPMed gnomAD
rs1262676440 CA371795825	774	W>R		No	ClinGen gnomAD
rs1486672195 CA371795782	776	K>N		No	ClinGen gnomAD
rs971374169 CA182357538	776	K>R		No	ClinGen TOPMed gnomAD
rs1255253412 CA371795774	777	M>T		No	ClinGen TOPMed
CA371795778 rs1257729705	777	M>V		No	ClinGen gnomAD
rs772525434 CA4825947	778	V>L		No	ClinGen ExAC gnomAD
CA4825946 rs373425471	779	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4825945 rs772688789	780	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA182357499 rs958420404	781	D>E		No	ClinGen Ensembl
rs747751605 CA4825943	781	D>Y		No	ClinGen ExAC gnomAD
CA182357492 rs146844474 COSM107168	782	Q>*	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs146844474 CA4825942	782	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
CA182357487 rs1016706012	783	I>T		No	ClinGen TOPMed gnomAD
CA4825941 rs754604015	784	A>T		No	ClinGen ExAC gnomAD
rs1160786402 CA371795648	787	K>R		No	ClinGen TOPMed gnomAD
rs1168884514 CA371795448	788	V>E		No	ClinGen gnomAD
CA182356065 rs371240281	788	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA371795446 rs1459644601	789	E>K		No	ClinGen gnomAD
rs776030888 CA4825923	790	L>P		No	ClinGen ExAC gnomAD
rs1455430472 CA371795433	791	V>M		No	ClinGen TOPMed
rs896134661 CA182356055	793	E>K		No	ClinGen TOPMed
CA371795411 rs1563605294	794	T>P		No	ClinGen Ensembl
CA371795406 rs1210721109	795	R>*		No	ClinGen gnomAD
rs1422087707 CA371795403	795	R>L		No	ClinGen TOPMed gnomAD
rs1422087707 CA371795405	795	R>Q		No	ClinGen TOPMed gnomAD
rs1180403859 CA371795397	796	Q>P		No	ClinGen TOPMed gnomAD
rs1180403859 CA371795399	796	Q>R		No	ClinGen TOPMed gnomAD
rs907215812 CA182356040	798	D>V		No	ClinGen TOPMed
rs1193795969 CA371795362	801	Y>*		No	ClinGen gnomAD
rs1257189269 CA371795364	801	Y>C		No	ClinGen gnomAD
CA371795345 rs1358047025	804	K>Q		No	ClinGen gnomAD
TCGA novel	804	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371795332 rs1338159729	806	Q>*		No	ClinGen gnomAD
rs1002438693 CA182356015	807	A>S		No	ClinGen gnomAD
rs1434037876 CA371795313	808	L>F		No	ClinGen gnomAD
CA182356010 rs946285067	809	H>Q		No	ClinGen TOPMed
CA371795309 rs1316931630	809	H>R		No	ClinGen TOPMed
rs748653969	810	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA182356005 COSM1094237 rs905462371 COSM1094236	810	K>R	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA371795281 rs1329744994	813	F>S		No	ClinGen gnomAD
CA4825916 rs371378021	814	S>C		No	ClinGen ESP ExAC gnomAD
CA371795267 rs1391759147	815	K>R		No	ClinGen TOPMed gnomAD
CA4825915 rs145770179	817	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA371795221 rs1264819147	820	T>P		No	ClinGen gnomAD
rs752780753 CA4825891	821	T>N		No	ClinGen ExAC TOPMed gnomAD
rs781335028 CA4825890	822	C>R		No	ClinGen ExAC gnomAD
CA4825889 rs556859889	824	I>T		No	ClinGen ExAC gnomAD
rs1221418331 CA371795185	825	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs751884714 CA4825888	827	G>D		No	ClinGen ExAC TOPMed gnomAD
CA4825887 rs199671653	830	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4825885 rs187406765	832	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1399521780 CA371795136	833	N>D		No	ClinGen TOPMed gnomAD
CA4825882 rs375173674	834	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
COSM241406 CA4825883 COSM241405 rs773976297	834	V>I	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1402751783 CA371795104	835	S>C		No	ClinGen gnomAD
rs371132678 CA4825880	836	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1479309675 CA371795081	837	R>*		No	ClinGen gnomAD
rs545074494 CA4825879	837	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs545074494 COSM277057 COSM277058 CA4825878	837	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs749245555 CA4825877	841	W>*		No	ClinGen ExAC gnomAD
CA4825876 rs777505388	842	D>E		No	ClinGen ExAC gnomAD
rs1294147608 CA371795018	842	D>H		No	ClinGen TOPMed
CA182354806 rs989401168	843	N>S		No	ClinGen Ensembl
CA4825875 rs146190924	844	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	846	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1246799361 CA371794961	847	E>K		No	ClinGen TOPMed
rs1035784638 CA182354798	848	Y>C		No	ClinGen Ensembl
TCGA novel	850	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1278479197 CA583884894	852	K>*		No	ClinGen gnomAD
rs781284660 CA4825873	852	K>R		No	ClinGen ExAC TOPMed gnomAD
rs969535685 CA182354778	855	D>G		No	ClinGen TOPMed
CA182354779 rs866372358	855	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs981401041 CA182354770	858	N>K		No	ClinGen Ensembl
rs780456138 CA4825870	859	N>K		No	ClinGen ExAC TOPMed gnomAD
CA371794767 rs1279137478	860	K>I		No	ClinGen gnomAD
rs1279137478 CA371794769	860	K>R		No	ClinGen gnomAD
rs758619501 CA4825869	861	L>V		No	ClinGen ExAC TOPMed gnomAD
CA371794745 rs1444485974	862	E>*		No	ClinGen TOPMed
CA4825863 rs374740685	867	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA4825864 rs374740685	867	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4825862 rs767184037	867	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA371794637 rs1468080863	869	F>C		No	ClinGen gnomAD
rs1013324030 CA182354714	870	L>P		No	ClinGen TOPMed gnomAD
rs1171027694 CA371794559	872	T>I		No	ClinGen gnomAD
CA371794571 rs1388336533	872	T>S		No	ClinGen TOPMed
CA4825861 rs759249164	876	S>G		No	ClinGen ExAC TOPMed gnomAD
CA371793502 rs1472800399	877	M>V		No	ClinGen TOPMed
rs201197901 CA4825847	880	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs183143416 CA4825849	880	M>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758666099 CA4825850	880	M>L		No	ClinGen ExAC gnomAD
rs183143416 CA4825848	880	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA371793457 rs1366916442	882	W>*		No	ClinGen TOPMed
CA4825846 rs201965368	882	W>*		No	ClinGen 1000Genomes ExAC gnomAD
CA371793461 rs1293558239	882	W>R		No	ClinGen TOPMed
CA182354049 rs200893477	884	D>A		No	ClinGen gnomAD
rs767130882 CA4825845	885	I>T		No	ClinGen ExAC gnomAD
rs1204701356 CA371793418	887	Q>*		No	ClinGen TOPMed gnomAD
CA371793405 rs1289686698	888	F>L		No	ClinGen gnomAD
rs535984838 CA4825843	889	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754379341 CA4825844	889	R>W	Variant assessed as Somatic; 4.662e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4825842 rs765900375	890	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM1094233 COSM1094232 rs772854946 CA4825839	896	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4825840 rs772854946	896	R>G		No	ClinGen ExAC TOPMed gnomAD
CA4825838 rs752527585	896	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs761730718 CA4825837	897	N>S		No	ClinGen ExAC gnomAD
rs1364498287 CA371793257	898	Q>*		No	ClinGen gnomAD
rs768591036 CA4825835	899	R>G		No	ClinGen ExAC gnomAD
rs894625215 CA182353984	900	K>T		No	ClinGen Ensembl
CA4825832 rs775668290	901	A>T		No	ClinGen ExAC gnomAD
TCGA novel	902	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1038559405 CA182353964	904	I>T		No	ClinGen Ensembl
rs1427689851 CA371793140	904	I>V		No	ClinGen gnomAD
rs1192066467 CA371793112	905	Y>F		No	ClinGen gnomAD
CA371793085 rs1489885295	906	I>M		No	ClinGen TOPMed
CA371793099 rs1488285115	906	I>V		No	ClinGen gnomAD
CA371793080 rs1266984385	907	K>E		No	ClinGen gnomAD
rs772150733 CA4825830	908	N>D		No	ClinGen ExAC gnomAD
rs941421381 CA182353949	908	N>T		No	ClinGen Ensembl
rs1286716888 CA371793049	909	K>R		No	ClinGen gnomAD
CA4825829 rs372845867	911	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA4825828 rs372845867	911	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA371792930 rs1314978629	915	Y>C		No	ClinGen gnomAD
CA371792903 rs1252898369	916	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA371792889 rs1483246714	917	F>S		No	ClinGen TOPMed
CA182353941 rs946904648	918	G>E		No	ClinGen TOPMed
CA182353934 rs1047015775	919	P>S		No	ClinGen gnomAD
CA371792823 rs1272975296	920	N>S		No	ClinGen gnomAD
rs201487971 CA4825825	921	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs376641769 CA4825823	922	P>L		No	ClinGen ESP ExAC gnomAD
rs756666569 CA4825824	922	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4825822 rs779657835	924	S>P		No	ClinGen ExAC gnomAD
CA371792728 rs1165414198	926	Y>C		No	ClinGen TOPMed
CA4825820 rs750137458	927	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1162517889 CA371792704	927	Q>R		No	ClinGen TOPMed
TCGA novel	928	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765015188 CA4825819	929	N>H		No	ClinGen ExAC TOPMed gnomAD
rs757998305 CA4825804	931	V>I		No	ClinGen ExAC gnomAD
CA371792215 rs1191149621	932	M>V		No	ClinGen TOPMed gnomAD
CA371792193 rs1407626277	933	H>N		No	ClinGen TOPMed gnomAD
rs749944499 CA4825803	933	H>R		No	ClinGen ExAC gnomAD
CA182352287 rs1026748592	936	G>D		No	ClinGen Ensembl
rs778484820 CA4825802	936	G>S		No	ClinGen ExAC gnomAD
CA371792078 rs1323339891	938	W>L		No	ClinGen TOPMed
CA4825801 rs756930204 CA182352268	939	G>R		No	ClinGen ExAC gnomAD
rs1588942461 CA371792057	940	K>E		No	ClinGen Ensembl
CA4825800 rs753595468	940	K>N		No	ClinGen ExAC TOPMed gnomAD
CA4825799 rs763996123	942	L>F		No	ClinGen ExAC
rs752745436 CA4825797	943	H>R		No	ClinGen ExAC TOPMed gnomAD
VAR_051798 rs3133711 CA4825798	943	H>Y		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA371792004 rs1249121843	944	E>K		No	ClinGen TOPMed
CA4825796 rs767359244	945	Q>R		No	ClinGen ExAC gnomAD
CA4825795 rs200231427	947	D>G		No	ClinGen ExAC gnomAD
rs114856255 CA4825794	949	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771238269 CA4825793	950	V>L		No	ClinGen ExAC TOPMed gnomAD
CA4825792 rs763307512	952	V>A		No	ClinGen ExAC TOPMed gnomAD
CA182352187 rs868135126	953	E>K		No	ClinGen Ensembl
rs1588942270 CA371791869	955	Q>K		No	ClinGen Ensembl
CA4825791 rs773692360	955	Q>P		No	ClinGen ExAC gnomAD
CA182352170 rs375967082	958	V>M		No	ClinGen ESP TOPMed
rs1396084367 CA371791805	959	Q>*		No	ClinGen gnomAD
rs770254497 CA4825790	961	R>K		No	ClinGen ExAC TOPMed gnomAD
CA182352149 rs371559852	961	R>S		No	ClinGen ESP gnomAD
CA4825789 rs748602287	966	W>*		No	ClinGen ExAC gnomAD
rs781678421 CA371791708	966	W>*		No	ClinGen ExAC gnomAD
CA4825788 rs781678421	966	W>C		No	ClinGen ExAC gnomAD
rs769062167 CA4825787	969	L>F		No	ClinGen ExAC gnomAD
rs1443943261 CA371791680	969	L>S		No	ClinGen TOPMed gnomAD
rs1180309055 CA371791662	972	A>P		No	ClinGen gnomAD
rs1249446417 CA371791647	974	E>*		No	ClinGen gnomAD
CA4825785 rs778431926	975	Q>E		No	ClinGen ExAC gnomAD
rs756878920 CA4825784	976	F>S		No	ClinGen ExAC gnomAD
rs1291877471 CA371791622	977	A>V		No	ClinGen gnomAD
COSM3719009 CA371791621 COSM3719008 rs1466729738	978	A>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed
rs748996221 CA4825783	979	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1008009423 CA182352051	979	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs777424750 CA4825782	980	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA4825781 rs755870794	982	I>V		No	ClinGen ExAC gnomAD
rs752448485 CA4825780	983	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA371790935 rs1198220234	984	V>L		No	ClinGen TOPMed gnomAD
rs867950293 CA182350187	986	M>I		No	ClinGen Ensembl
rs761977334 CA4825753	986	M>K		No	ClinGen ExAC TOPMed
CA4825751 rs764497182	988	D>H		No	ClinGen ExAC gnomAD
rs1446950156 CA371790901	989	I>L		No	ClinGen TOPMed gnomAD
rs761164580 CA4825750	989	I>T		No	ClinGen ExAC gnomAD
rs1446950156 CA371790900	989	I>V		No	ClinGen TOPMed gnomAD
CA371790895 rs1202590689	990	A>T		No	ClinGen gnomAD
rs933610445 CA371790874	992	E>D		No	ClinGen Ensembl
CA371790872 rs1226232639	993	L>F		No	ClinGen gnomAD
rs775907147 CA4825749	996	Q>R		No	ClinGen ExAC gnomAD
rs748783059 CA4825747	999	E>K		No	ClinGen ExAC gnomAD
TCGA novel	1000	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs181164225 CA4825745	1003	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA371790800 rs1168358419	1003	G>V		No	ClinGen TOPMed
CA4825744 rs747806418	1004	V>F		No	ClinGen ExAC gnomAD
CA371788720 rs769248020	1007	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
CA4825727 rs769248020	1007	P>T		No	ClinGen ExAC TOPMed
CA371788700 rs1335865514	1008	V>M		No	ClinGen gnomAD
CA4825726 rs761524888	1012	W>*		No	ClinGen ExAC TOPMed gnomAD
CA371788506 rs761524888	1012	W>C		No	ClinGen ExAC TOPMed gnomAD
CA4825725 rs776359550	1016	S>C		No	ClinGen ExAC gnomAD
CA4825724 rs768439818	1017	C>F		No	ClinGen ExAC gnomAD
CA4825723 rs746755199	1018	K>E		No	ClinGen ExAC gnomAD
CA371788315 rs1445785122	1018	K>R		No	ClinGen gnomAD
TCGA novel	1018	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1019	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371788267 rs1199873494	1020	I>T		No	ClinGen TOPMed
CA4825722 rs780031194	1021	A>G		No	ClinGen ExAC gnomAD
TCGA novel	1022	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745847509 CA4825720	1023	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM1223670 rs367712644 CA4825719 COSM1223669	1023	R>H	Variant assessed as Somatic; 0.000433 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
rs757215620 CA4825718	1025	A>T		No	ClinGen ExAC gnomAD
TCGA novel	1027	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371788082 rs1436224879	1029	P>L		No	ClinGen TOPMed gnomAD
CA371788086 rs1436224879	1029	P>Q		No	ClinGen TOPMed gnomAD
rs1563578656 CA371788021	1032	S>*		No	ClinGen Ensembl
CA371788034 rs1405339732	1032	S>P		No	ClinGen TOPMed
CA4825717 rs753963357	1034	Q>*		No	ClinGen ExAC TOPMed gnomAD
COSM367505 COSM367506 rs1158661595 CA371787956	1035	F>V	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA4825715 COSM1453567 rs370385204 COSM1453568	1037	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs182707509 COSM1453566 COSM1453565 CA4825714	1037	R>H	Variant assessed as Somatic; 4.703e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA4825712 rs760075875	1043	G>R		No	ClinGen ExAC TOPMed gnomAD
rs200406131 CA4825711	1044	D>Y		No	ClinGen ExAC gnomAD
rs776254718 CA4825708	1047	E>Q		No	ClinGen ExAC gnomAD
CA182344192 rs756007965	1049	G>D		No	ClinGen gnomAD
CA371787643 rs1211155546	1051	L>R		No	ClinGen TOPMed
rs376301062 CA4825706	1051	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA371787631 rs1266259271	1052	F>C		No	ClinGen TOPMed
CA4825704 rs771700896	1055	E>D		No	ClinGen ExAC
CA371787556 rs1468815147	1056	V>I		No	ClinGen gnomAD
CA371787514 rs1248626352	1057	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	1058	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1058	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745674176 CA4825703	1059	Y>C		No	ClinGen ExAC gnomAD
rs982846019 CA371787438	1060	K>N		No	ClinGen TOPMed gnomAD
CA182340114 rs971804385	1061	D>V		No	ClinGen gnomAD
rs1563572377 CA371785312	1062	L>*		No	ClinGen Ensembl
rs1258153118 CA371785281	1063	C>G		No	ClinGen Ensembl
CA4825676 rs141967830	1068	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA182340083 rs1018688459	1070	S>Y		No	ClinGen Ensembl
CA4825674 rs750896365	1076	I>V		No	ClinGen ExAC gnomAD
rs765837823 CA4825672	1079	I>T		No	ClinGen ExAC TOPMed gnomAD
CA371784774 rs1171027989	1080	I>V		No	ClinGen TOPMed
CA371784648 rs1421226722	1082	C>Y		No	ClinGen TOPMed
CA4825671 rs755745996	1083	F>C		No	ClinGen ExAC gnomAD
CA371784522 rs1262407426	1086	S>F		No	ClinGen gnomAD
CA182340042 rs867157657	1089	P>S		No	ClinGen Ensembl
rs1328646439 CA371784398	1090	P>Q		No	ClinGen TOPMed
CA4825670 rs200325406	1090	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1360224312 COSM1094225 CA371784368 COSM1094224	1091	A>G	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA4825669 rs202019380	1093	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA371784179 rs1311131310	1098	V>A		No	ClinGen TOPMed
rs759188760 CA4825668	1099	E>K		No	ClinGen ExAC
rs774037482 CA4825667	1103	K>N		No	ClinGen ExAC gnomAD
CA371784037 rs1204005607	1104	I>N		No	ClinGen gnomAD
CA4825664 rs75330957	1108	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4825663 rs551799426	1108	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs75330957 CA4825665	1108	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1381027454 CA371783858	1110	E>*		No	ClinGen gnomAD
CA182339994 rs753311396	1112	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs373970879 CA4825660	1113	P>L		No	ClinGen ESP ExAC gnomAD
rs373970879 CA182339992	1113	P>R		No	ClinGen ESP ExAC gnomAD
CA4825661 rs201002796	1113	P>S		No	ClinGen ExAC TOPMed gnomAD
rs34200563 CA4825657	1118	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4825658 rs747201392	1118	E>Q		No	ClinGen ExAC gnomAD
rs200869556 CA4825656	1119	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1447606192 CA371783516	1120	Q>H		No	ClinGen gnomAD
TCGA novel	1121	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371787607 rs1490691298	1121	M>L		No	ClinGen gnomAD
rs780572011 CA4825632	1122	T>A		No	ClinGen ExAC gnomAD
TCGA novel	1123	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1413818901 CA371787575	1123	I>V		No	ClinGen TOPMed
rs150018731 CA4825631	1124	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA4825629 rs779728510	1124	F>L		No	ClinGen ExAC gnomAD
rs150018731 CA4825630	1124	F>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1486762463 CA371787536	1125	G>E		No	ClinGen TOPMed gnomAD
rs1240153718 CA371787521	1126	V>F		No	ClinGen gnomAD
rs35278820	1126	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758013211 CA4825628	1128	F>I		No	ClinGen ExAC TOPMed gnomAD
CA371787429 rs1305099800	1131	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM3698731 COSM3698732 rs1346223961 CA371787414	1132	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1302552458 CA371787388	1134	F>L		No	ClinGen gnomAD
rs750245902 CA4825627	1136	E>*		No	ClinGen ExAC
TCGA novel	1137	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1300808418 CA371787329	1139	K>R		No	ClinGen TOPMed
CA371787307 rs1423945492	1141	L>S		No	ClinGen gnomAD
CA371787269 rs1409983131	1144	E>D		No	ClinGen TOPMed
CA4825624 rs1563567243	1146	I>F		No	ClinGen Ensembl
CA4825622 rs753883129	1147	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4825620 rs763927712	1148	S>I		No	ClinGen ExAC gnomAD
TCGA novel	1149	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4825619 rs760859813	1150	L>S		No	ClinGen ExAC gnomAD
CA4825618 rs775681873	1151	E>D		No	ClinGen ExAC gnomAD
rs1563567154 CA371787185	1152	R>K		No	ClinGen Ensembl
CA4825616 rs373734884	1153	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA371787172 rs1286916579	1153	R>S		No	ClinGen gnomAD
rs1206140875 CA371787169	1154	Q>K		No	ClinGen gnomAD
rs1350387901 CA371787165	1154	Q>R		No	ClinGen gnomAD
rs1266542309 CA371787154	1155	E>*		No	ClinGen gnomAD
rs1449341025 CA371787143	1156	Y>D		No	ClinGen gnomAD
CA4825615 rs202204085	1157	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA4825614 rs202204085	1157	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA371787125 rs1324465417	1157	N>K		No	ClinGen gnomAD
rs1243861215 CA371787128	1157	N>S		No	ClinGen TOPMed
CA371787106 rs1403136166	1159	Q>K		No	ClinGen gnomAD
CA371787085 rs1207491865	1160	K>I		No	ClinGen TOPMed
TCGA novel	1160	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4825613 rs749610944	1161	K>N		No	ClinGen ExAC gnomAD
CA371787066 rs1248714018	1162	K>*		No	ClinGen TOPMed
CA182352943 rs949781853	1162	K>I		No	ClinGen TOPMed gnomAD
CA182352936 rs922327556	1162	K>N		No	ClinGen Ensembl
CA4825612 rs7841915	1163	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1163	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770176316 CA4825607	1167	E>*		No	ClinGen ExAC gnomAD
rs1368972370 CA371787025	1167	E>A		No	ClinGen TOPMed
rs934609740 CA182352906	1168	D>V		No	ClinGen TOPMed
CA371787005 rs1305045955	1169	E>A		No	ClinGen gnomAD
TCGA novel	1169	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4825605 rs368573670	1169	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4825604 rs758064565	1170	K>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1170	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4825603 rs745461752	1173	K>E		No	ClinGen ExAC gnomAD
rs1170049499 CA371786958	1173	K>R		No	ClinGen TOPMed
rs763422627 CA4825590	1174	D>Y		No	ClinGen ExAC
CA4825589 rs187452253	1175	G>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4825588 rs187452253	1175	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs996865953 CA182347093	1176	I>V		No	ClinGen Ensembl
rs1462030196 CA371784898	1177	K>N		No	ClinGen gnomAD
CA371784863 rs147697097	1178	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1416216516 CA371784844	1179	Y>C		No	ClinGen TOPMed
rs866390612 CA182347086	1180	A>T		No	ClinGen TOPMed
CA4825586 rs774990671	1182	T>A		No	ClinGen ExAC gnomAD
rs367678476 CA4825585	1183	S>L		No	ClinGen ESP ExAC gnomAD
rs745373101 CA4825584	1184	V>G		No	ClinGen ExAC gnomAD
CA4825583 rs778589102	1185	P>S		No	ClinGen ExAC TOPMed gnomAD
CA371784562 rs1295275547	1187	I>T		No	ClinGen gnomAD
rs1190227860 CA371784549	1188	K>R		No	ClinGen gnomAD
CA4825581 rs749141649	1191	L>S		No	ClinGen ExAC gnomAD
rs1297620041 CA371784494	1191	L>V		No	ClinGen TOPMed
rs373870840 CA182347035	1194	D>E		No	ClinGen ESP TOPMed gnomAD
rs1291665847 CA371784445	1194	D>H		No	ClinGen TOPMed
CA371784415 rs1232435396	1195	S>F		No	ClinGen TOPMed
rs756091415 CA4825579	1199	L>I		No	ClinGen ExAC gnomAD
rs371496747 CA4825578	1200	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA4825576 rs755167346	1202	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1189708418 CA371784276	1203	G>A		No	ClinGen TOPMed
CA371784289 rs1471295402	1203	G>S		No	ClinGen TOPMed gnomAD
rs766663457 CA4825574	1204	R>*		No	ClinGen ExAC TOPMed gnomAD
CA371784268 rs760451465	1204	R>L		No	ClinGen ExAC TOPMed gnomAD
rs760451465 CA182347012	1204	R>P		No	ClinGen ExAC TOPMed gnomAD
COSM1453557 CA4825573 COSM1453558 rs760451465	1204	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA371784000 rs1246023863	1206	P>S		No	ClinGen gnomAD
TCGA novel	1207	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762217942 CA4825552	1208	W>*		No	ClinGen ExAC TOPMed gnomAD
CA4825551 rs754175544	1210	Y>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1215	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764619623 CA4825550	1216	A>G		No	ClinGen ExAC gnomAD
CA182346148 rs943792519	1218	E>A		No	ClinGen gnomAD
CA182346152 rs976494640	1218	E>K		No	ClinGen gnomAD
rs1367572278 CA371783680	1219	Q>L		No	ClinGen gnomAD
CA371783643 rs1292272798 CA371783640	1220	E>D		No	ClinGen gnomAD
rs1473796566 CA371783658	1220	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA182346143 rs770280436	1223	L>F		No	ClinGen ExAC TOPMed gnomAD
CA4825547 rs770280436 COSM263319 COSM263318	1223	L>I	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs528819894 CA4825545	1225	K>T		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1229	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371783436 rs1218810135	1230	L>R		No	ClinGen gnomAD
TCGA novel	1232	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1343877343 CA371783384	1233	K>N		No	ClinGen TOPMed gnomAD
rs377325799 CA4825543	1233	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs781092684 CA371783331	1235	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1242503250 CA371783322	1236	A>E		No	ClinGen gnomAD
TCGA novel	1237	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1297479629 CA371783226	1237	G>D		No	ClinGen gnomAD
CA4825540 rs768733615	1237	G>S		No	ClinGen ExAC gnomAD
CA371783209 rs1588853998	1238	L>W		No	ClinGen Ensembl
rs1385428149 CA371783196	1239	Q>*		No	ClinGen gnomAD
CA4825522 rs772747503	1240	P>S		No	ClinGen ExAC gnomAD
CA4825521 rs765010688	1241	L>I		No	ClinGen ExAC gnomAD
CA4825520 rs12546559	1243	N>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1244	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4825519 rs768496935	1246	A>P		No	ClinGen ExAC TOPMed gnomAD
rs768496935 CA4825518	1246	A>S		No	ClinGen ExAC TOPMed gnomAD
CA371783053 rs1371144873	1247	S>G		No	ClinGen gnomAD
rs1167874709 CA371783049	1247	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs369736446 CA182346007	1250	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA4825516 rs775344019	1250	T>I		No	ClinGen ExAC gnomAD
CA4825517 rs369736446	1250	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1253	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1471961140 CA371782956	1256	N>H		No	ClinGen gnomAD
CA371782949 rs1422910159	1256	N>S		No	ClinGen TOPMed gnomAD
rs1253602437 CA371782937	1257	M>T		No	ClinGen gnomAD
rs1178479538 CA371782863	1260	H>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA371782834 rs1483089547	1262	S>G		No	ClinGen gnomAD
rs375681044 CA4825513	1263	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs139157188 RCV000889201 CA4825499	1265	K>R		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD

No associated diseases with Q8NE09

2 regional properties for Q8NE09

Type	Name	Position	InterPro Accession
domain	RGS domain	852 - 980	IPR016137-1
domain	RGS domain	1021 - 1141	IPR016137-2

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus	Expressed in the cytoplasm of spermatogonia and spermatocytes In spermatids, also expressed in the nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
actin cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
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.
fibrillar center	A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures.
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.

1 GO annotations of molecular function

Name	Definition
G-protein alpha-subunit binding	Binding to a G-protein alpha subunit. The alpha subunit binds a guanine nucleotide.

1 GO annotations of biological process

Name	Definition
negative regulation of signal transduction	Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
G3UYX5	Rgs22	Regulator of G-protein signaling 22	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MPEKRLTAEP	PTITEEEFED	SLATDDFLVD	YFNEFLSLPT	FSEAIRFNAD	YGVFEVANDA
70	80	90	100	110	120
PQFLEKQLKK	ILQNQQPRNP	IYDVVRKGKN	EVKPVQMNAP	DEDETINVNY	NIMCLSREEG
130	140	150	160	170	180
IKWIKKERLP	AFLESDCYFE	YRLAKLVSQV	RWSKSGMNFT	VGSNFSPWIV	KKPPSLPPPA
190	200	210	220	230	240
TEEDNLVIMK	KFYVSLGEAS	YTQTKDWFAL	AKQSQQTVST	FSLPCCVPYN	KLKSPAISSV
250	260	270	280	290	300
SENFIFDDGV	HPRTKKDPSK	TNKLISEFEE	EEGEEEEVSV	SLQDTPSQAL	LRVYLEKKQD
310	320	330	340	350	360
VDESLTMHFS	TCEEFLSSYI	YFILRGAIQQ	IVGKPVGETP	DYINFNNITK	VSFDDCFESI
370	380	390	400	410	420
HGKNFLSELV	QTTKERSEEI	EQTSLSSKNE	SAGPESRADW	CISHRTYDIG	NRKEFERFKK
430	440	450	460	470	480
FIKGTLGERY	WWLWMDIERL	KVLKDPGRHQ	RHLEKMKKCY	LVSNGDYYLS	AEILSKFKLL
490	500	510	520	530	540
DGSQWNEEHL	RNIQSEVLKP	LLLYWAPRFC	VTHSASTKYA	SAELKFWHLR	QAKPRKDIDP
550	560	570	580	590	600
FPQMATLLPL	RPKSCIPQIP	EIQKEEFSLS	QPPKSPNKSP	EVKTATQKPW	KRELLYPGSS
610	620	630	640	650	660
KDDVIEKGSK	YMSESSKVIH	LTSFTDISEC	LKPQLDRRYA	YTEEPRVKTV	SDVGALGGSD
670	680	690	700	710	720
MENLLQSLYV	ENRAGFFFTK	FCEHSGNKLW	KNSVYFWFDL	QAYHQLFYQE	TLQPFKVCKQ
730	740	750	760	770	780
AQYLFATYVA	PSATLDIGLQ	QEKKKEIYMK	IQPPFEDLFD	TAEEYILLLL	LEPWTKMVKS
790	800	810	820	830	840
DQIAYKKVEL	VEETRQLDST	YFRKLQALHK	ETFSKKAEDT	TCEIGTGILS	LSNVSKRTEY
850	860	870	880	890	900
WDNVPAEYKH	FKFSDLLNNK	LEFEHFRQFL	ETHSSSMDLM	CWTDIEQFRR	ITYRDRNQRK
910	920	930	940	950	960
AKSIYIKNKY	LNKKYFFGPN	SPASLYQQNQ	VMHLSGGWGK	ILHEQLDAPV	LVEIQKHVQN
970	980	990	1000	1010	1020
RLENVWLPLF	LASEQFAARQ	KIKVQMKDIA	EELLLQKAEK	KIGVWKPVES	KWISSSCKII
1030	1040	1050	1060	1070	1080
AFRKALLNPV	TSRQFQRFVA	LKGDLLENGL	LFWQEVQKYK	DLCHSHCDES	VIQKKITTII
1090	1100	1110	1120	1130	1140
NCFINSSIPP	ALQIDIPVEQ	AQKIIEHRKE	LGPYVFREAQ	MTIFGVLFKF	WPQFCEFRKN
1150	1160	1170	1180	1190	1200
LTDENIMSVL	ERRQEYNKQK	KKLAVLEDEK	SGKDGIKQYA	NTSVPAIKTA	LLSDSFLGLQ
1210	1220	1230	1240	1250	1260
PYGRQPTWCY	SKYIEALEQE	RILLKIQEEL	EKKLFAGLQP	LTNFKASSST	MSLKKNMSAH

SSQK