AiPD: Autoinhibited Protein Database

Q8WZA2

Gene name	RAPGEF4 (CGEF2, EPAC2)
Protein name	Rap guanine nucleotide exchange factor 4
Names	Exchange factor directly activated by cAMP 2 , Exchange protein directly activated by cAMP 2 , EPAC 2 , cAMP-regulated guanine nucleotide exchange factor II , cAMP-GEFII
Species	Homo sapiens (Human)
KEGG Pathway	hsa:11069
EC number
Protein Class

Descriptions

Epac1 (RAPGEF3) is a guanine nucleotide exchange factor (GEF) for the small G protein Rap and is directly activated by cyclic AMP (cAMP). Epac1 contains a regulatory region with a cAMP-binding domain (CBD), a Dishev-elled, Egl-10, Pleckstrin (DEP) domain, and a catalytic region for GEF activity. Upon cAMP binding, Epac1 undergoes a conformational change that allows the interaction of its GEF domain with Rap, resulting in Rap activation and subsequent downstream effects, including integrin-mediated cell adhesion and cell-cell junction formation. cAMP also induces the translocation of Epac1 toward the plasma membrane (PM), which is requisite for cAMP-induced Rap activation at the PM and enhances Rap-mediated cell adhesion. In the autoinhibited state, the catalytic site is sterically covered by the N-terminal regulatory region, which occludes the Rap binding site. The autoinhibition is released by a conformational change induced by the binding of cAMP.

Autoinhibitory domains (AIDs)

356-475 (CBD) SS

Target domain	768-1011 (GEF catalytic domain)
Relief mechanism	Ligand binding
Assay

AID

356-475 (CBD)

Target domain

768-1011 (GEF catalytic domain)

Relief mechanism

Ligand binding (cAMP binding to CBD)

Assay

Accessory elements

No accessory elements

References

Selvaratnam R et al. (2012) "The auto-inhibitory role of the EPAC hinge helix as mapped by NMR", PloS one, 7, e48707

Ponsioen B et al. (2009) "Direct spatial control of Epac1 by cyclic AMP", Molecular and cellular biology, 29, 2521-31

Gloerich M et al. (2010) "Spatial regulation of cyclic AMP-Epac1 signaling in cell adhesion by ERM proteins", Molecular and cellular biology, 30, 5421-31

Autoinhibited structure

Activated structure

1 structures for Q8WZA2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8WZA2-F1	Predicted				AlphaFoldDB

956 variants for Q8WZA2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1338089710	4	A>V		No	gnomAD
rs1693705353	5	H>Y		No	TOPMed
rs1451485391	6	A>P		No	TOPMed gnomAD
rs1451485391	6	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1279726029	7	A>V		No	TOPMed gnomAD
rs922884425	8	H>D		No	TOPMed gnomAD
rs1375983141	8	H>L		No	TOPMed gnomAD
rs1375983141	8	H>R		No	TOPMed gnomAD
rs922884425	8	H>Y		No	TOPMed gnomAD
rs1693707019	9	S>F		No	gnomAD
rs2149403326	12	S>F		No	Ensembl
rs1313295326	13	A>D		No	TOPMed gnomAD
rs1313295326	13	A>V		No	TOPMed gnomAD
rs909885567	14	E>D		No	Ensembl
rs1291119778	14	E>K		No	TOPMed
rs2149403352	15	W>*		No	Ensembl
rs756780970	17	A>G		No	ExAC gnomAD
rs1261313905	17	A>S		No	TOPMed gnomAD
rs1261313905	17	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1175262326	18	C>*		No	gnomAD
rs1234751143	18	C>R		No	TOPMed gnomAD
rs1234751143	18	C>S		No	TOPMed gnomAD
rs1471071997	18	C>Y		No	gnomAD
rs1407215509	19	L>P		No	TOPMed gnomAD
rs1407215509	19	L>Q		No	TOPMed gnomAD
rs1693711979	20	D>E		No	TOPMed gnomAD
rs1403302344	20	D>G		No	TOPMed gnomAD
rs1178436612	20	D>Y		No	gnomAD
rs1468766732	21	K>R		No	gnomAD
rs912419604	22	R>G		No	TOPMed gnomAD
rs1355910565	22	R>K		No	gnomAD
rs1686228476	22	R>S		No	Ensembl
rs1686228681	23	P>L		No	TOPMed
rs1686229061	24	L>P		No	Ensembl
rs540300991	26	R>*		No	1000Genomes ExAC TOPMed gnomAD
rs866799911	26	R>Q		No	TOPMed
rs1686229867	28	S>G		No	TOPMed gnomAD
COSM5538016 rs938937021 COSM224843	29	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed
rs1339661315	30	D>E		No	TOPMed gnomAD
rs781169001	30	D>H		No	ExAC gnomAD
rs1686231916	31	V>A		No	TOPMed gnomAD
rs368839661	31	V>M		No	ESP TOPMed
rs1239430661	32	D>N		No	gnomAD
rs1281270601	32	D>V		No	gnomAD
rs1239430661	32	D>Y		No	gnomAD
rs747948672	34	I>L		No	ExAC TOPMed gnomAD
rs747948672	34	I>V		No	ExAC TOPMed gnomAD
rs1686233248	35	F>I		No	TOPMed
rs1263244938	36	T>P		No	gnomAD
COSM717716 rs757476344	37	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs757476344	37	R>Q		No	ExAC TOPMed gnomAD
rs1686234129	38	L>R		No	TOPMed
COSM277007	40	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1686234309	40	E>Q		No	Ensembl
rs1254974709	41	V>A		No	gnomAD
rs779135200	41	V>F		No	ExAC TOPMed gnomAD
rs779135200	41	V>I		No	ExAC TOPMed gnomAD
rs1686235210	44	F>L		No	TOPMed
rs1380859367	47	F>S		No	TOPMed
rs1686236262	50	N>S		No	Ensembl
TCGA novel	51	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs772149169	51	L>V		No	ExAC gnomAD
rs1362612195	53	H>Y		No	gnomAD
rs1470058204	55	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1225466180	57	L>S		No	Ensembl
rs1382742600	58	C>R		No	gnomAD
rs1686238050	59	G>D		No	gnomAD
rs1177725141	59	G>R		No	gnomAD
rs781496808	60	Y>C		No	Ensembl
COSM3570048 COSM3570049	62	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3570051 COSM3570050	65	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	67	G>E	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1397469873	69	T>I		No	TOPMed gnomAD
rs1489994425	70	L>F		No	gnomAD
rs1686500100 COSM1009611 COSM3570052	72	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed
COSM3425470 rs773272442 COSM3425471	72	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs773272442	72	R>L		No	ExAC TOPMed gnomAD
rs769167334	74	G>S		No	ExAC gnomAD
rs1686500822	74	G>V		No	Ensembl
rs552467612	75	D>E		No	1000Genomes ExAC gnomAD
rs564118034	76	I>T		No	1000Genomes ExAC gnomAD
rs1040371912	76	I>V		No	TOPMed gnomAD
rs868510990	77	G>R		No	Ensembl
rs1237741290	77	G>V		No	gnomAD
rs1559046283	80	W>L		No	Ensembl
rs773431191	81	Y>C		No	ExAC TOPMed gnomAD
COSM3837429 COSM3837428	81	Y>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1456354276	86	G>E		No	gnomAD
rs1315802786	88	L>*		No	TOPMed gnomAD
rs762710055	91	K>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1686504483	92	V>L		No	Ensembl
rs1293070990	95	T>S		No	gnomAD
rs1574868684	97	S>N		No	TOPMed gnomAD
rs770482532	98	H>N		No	ExAC TOPMed gnomAD
rs770482532	98	H>Y		No	ExAC TOPMed gnomAD
rs774057824	99	Q>K		No	ExAC gnomAD
rs200860758	100	D>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs200860758	100	D>V		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM570954 COSM6088343	100	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1688294480	102	V>A		No	Ensembl
rs540753368	103	T>S		No	1000Genomes ExAC TOPMed gnomAD
rs1325853265	104	I>L		No	TOPMed
rs1325853265	104	I>V		No	TOPMed
rs1450247533	107	L>M		No	TOPMed gnomAD
rs1218679978	109	I>V		No	TOPMed
rs1688295683	110	G>R		No	TOPMed
rs751735494	111	T>K		No	ExAC TOPMed gnomAD
rs751735494	111	T>M		No	ExAC TOPMed gnomAD
TCGA novel	114	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs755172794	116	S>T		No	ExAC
rs1688297195	119	D>G		No	TOPMed
rs767629107	120	N>S		No	ExAC gnomAD
rs767629107	120	N>T		No	ExAC gnomAD
rs1688297831	122	P>A		No	gnomAD
rs1007988926	122	P>H		No	Ensembl
COSM3895364 COSM3895363	122	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs765886512	123	R>C		No	ExAC gnomAD
rs1015948197	123	R>H		No	TOPMed gnomAD
rs756698961	124	H>Q		No	ExAC gnomAD
rs375294195	127	I>T		No	ESP
rs778080596	127	I>V		No	ExAC TOPMed gnomAD
rs200390261	128	V>I		No	1000Genomes ExAC TOPMed gnomAD
rs1337084345	132	S>N		No	TOPMed gnomAD
rs1227126812 TCGA novel	132	S>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	gnomAD NCI-TCGA
rs1288201618	134	E>V		No	TOPMed gnomAD
rs974178216	135	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
COSM4086791 rs770406565 COSM4086792	137	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1688301239	137	R>H		No	TOPMed
rs1688301239	137	R>L		No	TOPMed
rs1442027973	138	I>M		No	TOPMed gnomAD
COSM1009614	138	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs61756297	138	I>V		No	ExAC TOPMed gnomAD
rs1233267408	139	E>A		No	gnomAD
rs377537434	139	E>K		No	ESP ExAC TOPMed gnomAD
rs776394026	142	D>G		No	ExAC gnomAD
rs1688303312	143	F>L		No	Ensembl
rs761692592	145	A>P		No	ExAC TOPMed gnomAD
rs761692592	145	A>S		No	ExAC TOPMed gnomAD
rs761692592	145	A>T		No	ExAC TOPMed gnomAD
rs1422677283	146	L>P		No	gnomAD
rs1688304851	147	W>R		No	TOPMed gnomAD
rs758164052	149	K>N		No	ExAC gnomAD
rs1684236048	150	Y>C		No	gnomAD
COSM2893622 rs2150033513 COSM4086793	151	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs779974140	151	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1170222525	153	Y>C		No	gnomAD
rs1684236850	153	Y>N		No	Ensembl
rs1368412514	154	M>V		No	gnomAD
rs1198816186	155	A>S		No	gnomAD
rs1198816186	155	A>T		No	gnomAD
rs1268020898	155	A>V		No	gnomAD
rs375512263	156	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs773486060	157	L>F		No	ExAC gnomAD
rs777699456	159	A>T		No	Ensembl
rs1684239638	159	A>V		No	TOPMed gnomAD
rs1684239923	162	Y>D		No	Ensembl
rs749335446	162	Y>F		No	ExAC TOPMed gnomAD
rs749335446	162	Y>S		No	ExAC TOPMed gnomAD
rs1485914757	163	G>S		No	TOPMed
rs1326624403	164	V>I		No	gnomAD
rs200210661	165	M>T		No	ExAC TOPMed gnomAD
rs1295892052	167	T>A		No	gnomAD
rs79167858	167	T>K		No	ExAC TOPMed gnomAD
rs79167858	167	T>M		No	ExAC TOPMed gnomAD
COSM3570056 COSM3570055	168	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs369674227	170	N>D		No	ESP ExAC TOPMed gnomAD
rs183632065	170	N>I		No	1000Genomes ExAC gnomAD
rs565251889	171	N>D		No	Ensembl
rs1487581200	171	N>S		No	TOPMed gnomAD
rs894067190	172	D>A		No	TOPMed
rs1390714512 COSM3570057	173	R>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs751489435	173	R>M		No	ExAC TOPMed gnomAD
rs751489435	173	R>T		No	ExAC TOPMed gnomAD
rs1684849872	174	I>F		No	Ensembl
rs1372746646	174	I>M		No	TOPMed gnomAD
rs1684850622	176	D>E		No	TOPMed
rs1428419929	176	D>N		No	gnomAD
rs759528090	177	K>R		No	ExAC TOPMed gnomAD
rs757560905	178	E>D		No	ExAC TOPMed gnomAD
rs376787687	178	E>G		No	ESP ExAC TOPMed gnomAD
rs767389269	178	E>K		No	ExAC gnomAD
rs756925424	179	N>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs57766910	179	N>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1689203208	180	T>A		No	TOPMed gnomAD
rs1689203208	180	T>S		No	TOPMed gnomAD
rs1575379696	182	L>F		No	Ensembl
rs1156771353	183	I>M		No	TOPMed
rs573347991	183	I>V		No	ExAC TOPMed gnomAD
rs1689205494	185	P>L		No	Ensembl
rs756382081	185	P>S		No	ExAC TOPMed gnomAD
rs756382081	185	P>T		No	ExAC TOPMed gnomAD
rs1326619692	187	V>A		No	gnomAD
rs1269677400	187	V>I		No	TOPMed gnomAD
rs1575379748	188	P>L		No	Ensembl
rs1204139349 COSM5931016 COSM5931015	190	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs146735016	190	R>H		No	1000Genomes ExAC TOPMed gnomAD
rs946045859	193	N>D		No	TOPMed
rs1689208129	194	T>N		No	TOPMed
rs1689208379	195	I>V		No	TOPMed
rs1290443109	197	K>R		No	gnomAD
rs1311747542	198	V>I		No	TOPMed gnomAD
rs1249717968	199	P>R		No	TOPMed gnomAD
rs1199923390	200	S>T		No	gnomAD
rs1379586599	202	K>N		No	gnomAD
COSM418480	202	K>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1689246271	203	I>T		No	Ensembl
rs201933844	204	L>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs182318587	207	G>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs778643825	209	I>F		No	ExAC gnomAD
rs1689247784	209	I>N		No	TOPMed
rs778643825	209	I>V		No	ExAC gnomAD
rs555874835	210	L>S		No	gnomAD
rs1045496711	211	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
COSM5891704 COSM5891703 rs200268023	211	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1301588120	213	A>T		No	gnomAD
TCGA novel	213	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1332441937	214	I>V		No	gnomAD
rs369838179	217	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs369838179	217	R>G		No	ESP ExAC TOPMed gnomAD
COSM1009618 rs373393896	217	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs1162065502	219	P>S		No	TOPMed gnomAD
rs776422165	220	H>D		No	ExAC gnomAD
rs1210478609	221	M>T		No	gnomAD
rs1480387978	221	M>V		No	TOPMed gnomAD
rs761528496	222	I>M		No	ExAC gnomAD
rs1269802379	222	I>V		No	gnomAD
rs1193203253	224	D>N		No	gnomAD
rs1575380895	229	L>I		No	Ensembl
rs766905283	231	T>A		No	ExAC TOPMed gnomAD
rs1689255502	231	T>I		No	TOPMed
rs766905283	231	T>S		No	ExAC TOPMed gnomAD
rs752821169	232	Y>*		No	ExAC TOPMed gnomAD
rs767530650	232	Y>H		No	ExAC gnomAD
rs1384615361	233	R>G		No	Ensembl
rs751061609	234	Q>H		No	ExAC TOPMed gnomAD
rs765988036	234	Q>R		No	ExAC TOPMed gnomAD
rs1331509893	236	C>S		No	gnomAD
rs762843790	237	V>M		No	Ensembl
rs1207012193	238	G>E		No	gnomAD
rs763343279	242	V>M		No	Ensembl
rs748119426	245	M>I		No	ExAC TOPMed gnomAD
rs1689745362	246	M>I		No	Ensembl
rs1559149576	246	M>K		No	Ensembl
rs1473962603	247	Q>P		No	gnomAD
TCGA novel	248	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs756037468	248	Q>E		No	ExAC gnomAD
rs1458521026	248	Q>H		No	gnomAD
rs1375446864	248	Q>R		No	TOPMed gnomAD
rs777491127	251	C>R		No	ExAC TOPMed gnomAD
rs1344991981	252	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
COSM1009622	254	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs749058892	255	R>G		No	ExAC TOPMed gnomAD
rs578092087	255	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs749058892	255	R>W		No	ExAC TOPMed gnomAD
rs747110410	256	T>N		No	ExAC TOPMed gnomAD
rs141738165	256	T>P		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM1009624	258	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs376497880	259	V>F		No	ESP ExAC TOPMed gnomAD
rs376497880	259	V>I		No	ESP ExAC TOPMed gnomAD
rs963209465	260	G>S		No	TOPMed
rs991530565	260	G>V		No	Ensembl
rs370988008	261	M>I		No	ESP ExAC gnomAD
rs1342901016	261	M>T		No	Ensembl
rs773453675	262	W>C		No	ExAC TOPMed gnomAD
rs765717537	262	W>L		No	ExAC gnomAD
rs1689752160	264	V>A		No	gnomAD
rs1689752933	265	L>P		No	Ensembl
rs374468976	265	L>V		No	ESP ExAC TOPMed gnomAD
rs376255045	266	L>S		No	ESP TOPMed gnomAD
rs149037850	267	E>K		No	Ensembl
rs1251916653	268	D>V		No	gnomAD
rs1689755056	269	G>V		No	Ensembl
rs2105495131	270	V>G		No	Ensembl
rs1413383637	270	V>L		No	gnomAD
rs1473256229	272	N>S		No	gnomAD
rs1175182036	273	H>P		No	gnomAD
rs376523114	273	H>Q		No	1000Genomes ExAC TOPMed gnomAD
rs1408327710	275	D>E		No	gnomAD
rs1392535423	275	D>G		No	TOPMed gnomAD
rs1689944172	276	Q>H		No	TOPMed
rs199696709	277	E>D		No	1000Genomes gnomAD
rs760194452	279	H>N		No	ExAC gnomAD
TCGA novel	279	H>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM3570059 COSM3570058	283	K>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs202063054	284	Y>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1689945915	285	L>V		No	TOPMed gnomAD
TCGA novel	286	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs200306531	287	Y>C		No	ESP ExAC TOPMed gnomAD
rs1298298703	288	R>L		No	gnomAD
rs1298298703	288	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
COSM4086794 COSM4086795	289	F>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs778835490	291	D>G		No	ExAC gnomAD
COSM3990763 COSM3990762 rs750231631	292	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs1689947643	293	E>*		No	Ensembl
rs1689947643	293	E>K		No	Ensembl
TCGA novel rs369022929	294	H>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA 1000Genomes ESP ExAC TOPMed gnomAD
rs755255424	294	H>Y		No	ExAC gnomAD
rs1394636092	295	E>D		No	TOPMed gnomAD
rs540212267	295	E>K		No	1000Genomes ExAC TOPMed gnomAD
rs540212267	295	E>Q		No	1000Genomes ExAC TOPMed gnomAD
rs1250748832	296	D>H		No	gnomAD
rs1468350153	297	A>D		No	gnomAD
COSM1471325	297	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs769964236	301	T>A		No	ExAC TOPMed gnomAD
rs769964236	301	T>P		No	ExAC TOPMed gnomAD
rs1222615126	302	E>K		No	gnomAD
TCGA novel	303	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs898993784	303	E>K		No	Ensembl
rs898993784	303	E>Q		No	Ensembl
rs749868655	304	E>G		No	ExAC gnomAD
TCGA novel	304	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1186346013 COSM1009626	306	K>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs1414646795	306	K>E		No	gnomAD
rs375404385	307	E>K		No	ESP TOPMed gnomAD
rs375404385	307	E>Q		No	ESP TOPMed gnomAD
rs146330323 RCV000892146	308	C>R		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1436022414	308	C>Y		No	gnomAD
rs1321009824	309	D>N		No	gnomAD
rs1200648437	309	D>V		No	gnomAD
rs775078727	311	E>V		No	ExAC gnomAD
rs1689956648	313	Q>H		No	Ensembl
rs760223868	313	Q>R		No	ExAC TOPMed gnomAD
rs763700735	315	T>S		No	ExAC TOPMed gnomAD
rs1689957540	316	M>I		No	TOPMed
rs753286387	316	M>V		No	ExAC TOPMed gnomAD
rs1301691062	317	L>M		No	TOPMed
rs761870255	317	L>Q		No	ExAC TOPMed gnomAD
rs973386114	320	S>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1290568287	321	Q>H		No	TOPMed gnomAD
rs969150990	321	Q>K		No	Ensembl
rs1359778320	321	Q>R		No	TOPMed
rs1480399930	322	M>I		No	TOPMed gnomAD
rs1689960179	322	M>V		No	Ensembl
rs17857212	324	P>R		No	Ensembl
COSM4823564 COSM4823565	325	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs758218304	326	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs376257745	327	H>R		No	ESP
rs1238555512 COSM4847805 COSM4847806	328	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic gnomAD
rs1689962936	329	R>K		No	Ensembl
rs992884789	331	I>F		No	TOPMed
rs369456567	333	R>C		No	ESP ExAC TOPMed gnomAD
rs777964823	333	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs369456567	333	R>S		No	ESP ExAC TOPMed gnomAD
rs989465232	335	P>L		No	TOPMed gnomAD
rs989465232	335	P>R		No	TOPMed gnomAD
rs1689964211	335	P>S		No	TOPMed
rs768385021	336	P>H		No	ExAC gnomAD
rs1199801794	337	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1691910416	338	Q>*		No	TOPMed
rs776096310	339	R>K		No	ExAC gnomAD
TCGA novel	342	D>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1429895810	344	L>I		No	gnomAD
COSM6154726 COSM6154727	345	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1169152125	346	I>V		No	gnomAD
rs769467653	347	I>F		No	ExAC gnomAD
rs376593491	348	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA gnomAD
rs376593491	348	Y>F		No	ESP ExAC gnomAD
rs1323787143	351	L>V		No	gnomAD
rs1490060717	353	H>Q		No	gnomAD
COSM277008	354	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	354	I>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs759214341	356	A>V		No	ExAC gnomAD
rs757444377	357	L>F		No	ExAC gnomAD
rs754060483	357	L>V		No	ExAC gnomAD
rs1338771768	358	S>C		No	gnomAD
COSM3570060 COSM2893645	358	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1187316898	358	S>P		No	TOPMed
TCGA novel	359	H>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs139102560	359	H>R		No	1000Genomes ExAC TOPMed gnomAD
rs1210713314	359	H>Y		No	TOPMed gnomAD
rs942284392	360	L>F		No	Ensembl
rs368287979	363	T>I		No	ESP ExAC TOPMed gnomAD
TCGA novel	364	V>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs368848473	366	R>*		No	ESP ExAC TOPMed gnomAD
rs1295203082	366	R>Q		No	TOPMed gnomAD
rs1692149835	367	E>G		No	TOPMed
TCGA novel	369	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs964935296	370	G>A		No	TOPMed
rs1289189550	370	G>C		No	TOPMed gnomAD
rs964935296	370	G>D		No	TOPMed
rs1289189550	370	G>S		No	TOPMed gnomAD
rs753048993	372	L>F		No	ExAC gnomAD
rs1485506069 COSM1009628	373	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
TCGA novel	374	F>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1692153198	377	H>Y		No	TOPMed
rs777524742	378	A>T		No	ExAC gnomAD
rs1692154032	379	K>E		No	TOPMed
rs1488935795	380	G>A		No	TOPMed
COSM4086796 COSM4086797	380	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	382	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs752726781	383	V>M		No	ExAC TOPMed gnomAD
rs1692468282	384	L>F		No	TOPMed
rs369571635	387	Q>R		No	ESP ExAC gnomAD
rs1012955115	388	G>W		No	TOPMed
rs753588056	392	T>A		No	ExAC gnomAD
rs34347501	392	T>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs34347501	392	T>N		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2166589	393	S>F		No	TOPMed gnomAD
rs1294753383	395	Y>*		No	TOPMed
rs1692471558	395	Y>C		No	Ensembl
rs771909581	396	I>T		No	ExAC gnomAD
rs1436576828	398	L>V		No	TOPMed gnomAD
rs1692472800	399	K>Q		No	Ensembl
rs1212031485	399	K>R		No	gnomAD
rs1212031485	399	K>T		No	gnomAD
rs538685866	406	I>V		No	Ensembl
rs957684234	408	G>D		No	gnomAD
rs768478294	408	G>S		No	ExAC TOPMed gnomAD
rs1468301285	416	H>N		No	gnomAD
rs1178844428 COSM1009630	416	H>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
COSM4306076 COSM2893651	416	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1217183768	418	G>R		No	gnomAD
TCGA novel	420	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1692522870	421	F>C		No	Ensembl
rs1474499669	422	G>D		No	TOPMed gnomAD
rs1692523400	422	G>R		No	TOPMed gnomAD
rs1692523400	422	G>S		No	TOPMed gnomAD
rs1186015412	424	L>I		No	gnomAD
TCGA novel	424	L>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1009632	425	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1418578375 COSM1631455	425	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs772321262	428	N>H		No	ExAC gnomAD
rs1162989294	429	D>G		No	gnomAD
rs775710382	430	A>T		No	ExAC gnomAD
rs867348656	430	A>V		No	Ensembl
rs761325788	432	R>*		No	ExAC TOPMed gnomAD
COSM3743343 COSM3743342 rs746993987	432	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs1428478021	433	A>T		No	TOPMed gnomAD
TCGA novel	434	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1277056034	434	A>T		No	gnomAD
rs1355489734	436	I>V		No	gnomAD
rs777850019	437	V>I		No	ExAC TOPMed gnomAD
rs1386157524	439	R>*		No	gnomAD
COSM5538015 rs1254075428 COSM5538014	439	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
COSM717714	440	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs776865942	441	D>N		No	ExAC gnomAD
rs1692530589	442	N>T		No	TOPMed gnomAD
rs764821144	442	N>Y		No	ExAC gnomAD
rs1692531078	444	H>Y		No	gnomAD
rs1692531562	445	F>C		No	TOPMed
rs750128266	448	V>A		No	ExAC
rs1559166639	449	D>A		No	Ensembl
rs1235279074	450	K>Q		No	TOPMed
rs1186167536	452	D>N		No	TOPMed gnomAD
rs765931581	454	N>S		No	ExAC gnomAD
rs201545225	455	R>Q		No	ExAC TOPMed gnomAD
rs751012627	455	R>W		No	ExAC TOPMed gnomAD
rs1255329049	456	I>L		No	Ensembl
rs1409838921	458	R>K		No	gnomAD
rs937833381	458	R>K		No	Ensembl
rs1169084481	458	R>S		No	Ensembl
rs1446496365	459	D>E		No	TOPMed gnomAD
rs1304557006	460	V>L		No	TOPMed gnomAD
rs1304557006	460	V>M		No	TOPMed gnomAD
rs2105735339	461	E>Q		No	Ensembl
COSM3694983 COSM3694984 rs1232697175	462	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
TCGA novel	467	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs756003634	468	K>Q		No	ExAC TOPMed gnomAD
COSM4086801 COSM4086800	469	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs368794857	470	H>R		No	ESP ExAC gnomAD
rs1197820104	470	H>Y		No	gnomAD
rs1177785705	471	D>E		No	TOPMed gnomAD
rs753523490	471	D>N		No	ExAC TOPMed gnomAD
rs1253321948	472	Q>E		No	TOPMed gnomAD
rs1692762893	473	D>G		No	TOPMed
rs964353700	479	K>R		No	TOPMed
rs758702367	480	V>F		No	ExAC TOPMed gnomAD
rs758702367	480	V>I		No	ExAC TOPMed gnomAD
rs1314996947	482	A>V		No	TOPMed
rs1376619614	483	G>E		No	TOPMed gnomAD
rs976763426	485	R>G		No	TOPMed gnomAD
rs373777968	485	R>T		No	Ensembl
rs1393898884	486	A>G		No	gnomAD
rs1692766238	486	A>P		No	gnomAD
COSM270001 rs1052453015	488	N>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl NCI-TCGA
rs1262683936	488	N>S		No	gnomAD
TCGA novel	489	Q>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM6154725 COSM6154724	490	G>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1464720240	490	G>E		No	gnomAD
rs1327036329	491	N>K		No	TOPMed gnomAD
rs747108801	493	Q>*		No	ExAC gnomAD
rs866445762	494	P>H		No	Ensembl
rs866445762	494	P>L		No	Ensembl
rs915132945	495	Q>E		No	Ensembl
rs1692769205	495	Q>P		No	TOPMed
rs1384350191	497	K>N		No	gnomAD
rs752059924	499	T>A		No	ExAC TOPMed gnomAD
rs1693375601	501	M>I		No	TOPMed gnomAD
rs751873453	502	S>A		No	ExAC
TCGA novel	507	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs755235277 COSM3694985 COSM1166147	508	I>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
TCGA novel	509	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs903491876	510	E>G		No	TOPMed gnomAD
rs1693376471	510	E>Q		No	TOPMed
rs17857211	511	H>R		No	Ensembl
rs1693377669	514	E>D		No	gnomAD
rs1693377949	515	T>A		No	Ensembl
RCV000972383 rs112722051	516	I>V		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs748105730	517	R>C		No	ExAC TOPMed gnomAD
COSM5449543 rs778093051 COSM5449542	517	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs778093051	517	R>L		No	ExAC TOPMed gnomAD
rs748105730	517	R>S		No	ExAC TOPMed gnomAD
rs749771603	520	A>S		No	ExAC TOPMed gnomAD
TCGA novel	523	N>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs771324191	525	A>T		No	ExAC TOPMed gnomAD
rs1693890712	527	D>V		No	TOPMed
rs1693890949	528	S>C		No	Ensembl
rs777799034	529	V>A		No	ExAC
rs749858578	532	D>Y		No	ExAC gnomAD
rs1380210048	536	M>T		No	gnomAD
rs757749840	537	H>Q		No	ExAC gnomAD
rs1435818787	537	H>Y		No	TOPMed gnomAD
COSM3407062 COSM3407061	538	C>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1352879231	541	M>I		No	gnomAD
rs779264351	541	M>V		No	ExAC gnomAD
rs372092370	542	P>A		No	ESP ExAC TOPMed gnomAD
rs372092370	542	P>T		No	ESP ExAC TOPMed gnomAD
COSM1009634	543	N>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs185499414	543	N>S		No	1000Genomes ExAC TOPMed gnomAD
rs1559175604	544	T>S		No	Ensembl
rs1693894185	545	Q>K		No	Ensembl
rs1693894372	546	L>F		No	Ensembl
rs1283034597	546	L>R		No	TOPMed gnomAD
rs1448701596	547	C>F		No	TOPMed gnomAD
rs1693894826	547	C>G		No	Ensembl
rs1448701596	547	C>Y		No	TOPMed gnomAD
rs1306737616	548	P>L		No	gnomAD
rs1559175648	549	A>T		No	TOPMed
rs540184106	549	A>V		No	1000Genomes ExAC gnomAD
TCGA novel	551	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	551	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1052361783	552	A>T		No	TOPMed gnomAD
rs1693897304	553	H>N		No	TOPMed
rs765282781	553	H>Q		No	ExAC TOPMed gnomAD
rs758943183	556	A>T		No	ExAC TOPMed gnomAD
rs1451506887	557	Q>*		No	Ensembl
rs780343043	557	Q>H		No	ExAC gnomAD
rs751881578	558	P>A		No	ExAC TOPMed gnomAD
rs1482568228	558	P>L		No	TOPMed
rs751881578	558	P>S		No	ExAC TOPMed gnomAD
rs751881578	558	P>T		No	ExAC TOPMed gnomAD
rs1325505681	559	S>T		No	gnomAD
rs1307152566	561	G>A		No	TOPMed gnomAD
rs1307152566	561	G>D		No	TOPMed gnomAD
rs754706592	561	G>S		No	ExAC gnomAD
rs374929947	562	T>A		No	gnomAD
rs1695322633	562	T>K		No	Ensembl
rs1288966690	564	Q>*		No	gnomAD
rs746535991	564	Q>R		No	ExAC TOPMed gnomAD
rs1695323595	565	E>K		No	Ensembl
rs370697748	568	D>G		No	ESP ExAC TOPMed gnomAD
rs372769775	569	Y>C		No	ESP ExAC TOPMed gnomAD
rs749240190	570	A>V		No	ExAC TOPMed gnomAD
COSM476228	571	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1451570454	572	N>K		No	gnomAD
rs201425570	572	N>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1695325087	573	N>D		No	Ensembl
rs1217067437	573	N>S		No	gnomAD
rs1205742871	574	K>N		No	TOPMed gnomAD
rs1695325917 COSM476229	575	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed
TCGA novel rs1695326395	576	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs183096630	576	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs199578267	579	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs200217066	579	R>H		No	ESP ExAC TOPMed gnomAD
rs1476274723	580	L>M		No	gnomAD
rs761996503	581	V>A		No	ExAC TOPMed gnomAD
rs1487352414	583	Q>R		No	gnomAD
rs773331672	586	A>T		No	ExAC TOPMed gnomAD
TCGA novel	586	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs766866007	587	M>K		No	ExAC gnomAD
rs763386400	587	M>V		No	ExAC gnomAD
rs1575521637	588	Y>*		No	Ensembl
rs1373798215	588	Y>C		No	TOPMed
rs1397580531	588	Y>H		No	gnomAD
rs751888480	593	Q>R		No	ExAC TOPMed gnomAD
COSM1305858	594	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs755439264	595	D>Y		No	ExAC gnomAD
rs760538481	597	V>L		No	ExAC TOPMed gnomAD
rs760538481	597	V>M		No	ExAC TOPMed gnomAD
rs1695334140	598	S>C		No	Ensembl
rs1215998448	599	M>K		No	gnomAD
rs1215998448	599	M>T		No	gnomAD
rs777158731	599	M>V		No	ExAC TOPMed gnomAD
rs2105888601	600	A>V		No	Ensembl
rs748766954	602	L>V		No	ExAC
rs1437775189	604	E>D		No	gnomAD
rs1441044646	605	F>I		No	TOPMed
rs749837310	607	V>I		No	TOPMed gnomAD
rs749837310	607	V>L		No	TOPMed gnomAD
rs745875682	609	V>I		No	ExAC TOPMed gnomAD
rs745875682	609	V>L		No	ExAC TOPMed gnomAD
rs1401070986	610	S>L		No	TOPMed gnomAD
rs1333825775	612	D>G		No	gnomAD
COSM4824918 COSM4824919	612	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	613	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs779840587	614	R>Q		No	ExAC TOPMed gnomAD
rs1414639413	614	R>W		No	TOPMed gnomAD
rs372171158	615	M>T		No	ESP ExAC TOPMed gnomAD
rs2105897179	616	I>T		No	Ensembl
rs1332967055	618	A>S		No	TOPMed gnomAD
rs1332967055	618	A>T		No	TOPMed gnomAD
COSM4306104 COSM571332	619	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs773527960	622	Q>K		No	ExAC TOPMed gnomAD
rs1342908044	624	P>A		No	TOPMed gnomAD
rs1695513302	624	P>L		No	TOPMed gnomAD
COSM1009638	624	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1695513839	625	E>D		No	TOPMed gnomAD
rs1695514305	628	K>E		No	TOPMed
rs771108739	629	I>T		No	ExAC TOPMed gnomAD
rs1695514851	630	V>L		No	Ensembl
rs774559153	633	I>T		No	ExAC gnomAD
rs779136544	635	E>G		No	ExAC gnomAD
rs779136544	635	E>V		No	ExAC gnomAD
rs925262925	636	D>Y		No	TOPMed gnomAD
TCGA novel rs1695583043	637	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs150495482	639	A>G		No	1000Genomes ESP ExAC TOPMed gnomAD
RCV000891343 rs150495482	639	A>V		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs865942580	640	P>L		No	Ensembl
rs865942580	640	P>R		No	Ensembl
rs1401905216	640	P>S		No	gnomAD
rs1695584543	641	Q>K		No	Ensembl
rs1340122974	641	Q>R		No	TOPMed gnomAD
COSM1009640	643	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs776189315	643	K>T		No	ExAC gnomAD
rs1242173326	645	K>E		No	TOPMed gnomAD
rs777061245	645	K>R		No	ExAC gnomAD
rs190538163	646	V>F		No	1000Genomes ExAC TOPMed gnomAD
rs17853965	647	L>I		No	Ensembl
COSM4846430 COSM4846429	647	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs368919451	651	F>L		No	ESP ExAC TOPMed gnomAD
rs1695609654	651	F>S		No	gnomAD
rs772889049	652	N>S		No	ExAC TOPMed gnomAD
rs373366834	653	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1181747980	654	G>C		No	Ensembl
rs1181747980	654	G>S		No	Ensembl
rs767316042	655	D>N		No	ExAC gnomAD
rs1442110747	656	E>K		No	gnomAD
rs1177288573	657	R>K		No	gnomAD
rs1695612947	657	R>S		No	TOPMed
COSM3570065 COSM3570066	659	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs752557577	659	Q>E		No	ExAC gnomAD
rs755913519	661	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs779625883	661	R>H		No	ExAC TOPMed gnomAD
rs779625883	661	R>L		No	ExAC TOPMed gnomAD
rs755913519	661	R>S		No	ExAC TOPMed gnomAD
rs750741015	665	R>C		No	ExAC TOPMed gnomAD
rs376379807	665	R>H		No	ESP ExAC TOPMed gnomAD
rs182317769	666	G>D		No	1000Genomes ESP ExAC TOPMed gnomAD
rs758839725	666	G>S		No	ExAC TOPMed gnomAD
rs1360598874	668	D>G		No	TOPMed
rs1229937768	668	D>N		No	TOPMed gnomAD
rs1360598874	668	D>V		No	TOPMed
COSM3570068 COSM3570067	669	E>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1409198874	669	E>K		No	TOPMed gnomAD
COSM277009 rs1339276730	671	L>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs1272695820	674	V>A		No	gnomAD
rs748659306	675	Y>H		No	ExAC gnomAD
rs756552425	676	C>W		No	ExAC gnomAD
rs370077088	677	M>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs749611619	678	D>A		No	ExAC TOPMed gnomAD
rs1488197817	678	D>N		No	gnomAD
rs17852173	679	H>P		No	Ensembl
rs770592612	679	H>Q		No	ExAC gnomAD
rs1265632565	679	H>Y		No	TOPMed gnomAD
rs778479178	680	T>I		No	ExAC gnomAD
rs1168307507	680	T>S		No	gnomAD
rs771549542	683	T>A		No	ExAC
rs1177106687	684	I>V		No	TOPMed gnomAD
rs776601135	685	R>Q		No	ExAC TOPMed gnomAD
COSM4895423 rs368051118 COSM4895422	685	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs1695737129	688	V>A		No	TOPMed
rs1411899994	689	A>V		No	TOPMed gnomAD
rs761654980	690	T>A		No	ExAC gnomAD
rs765062932	690	T>S		No	ExAC TOPMed gnomAD
rs201085724	691	S>L		No	ESP ExAC TOPMed gnomAD
rs1444519193	692	V>M		No	TOPMed gnomAD
rs767505985	693	K>E		No	ExAC gnomAD
rs1575531537	695	V>G		No	Ensembl
rs756644173	696	I>S		No	ExAC gnomAD
rs1695740531	696	I>V		No	gnomAD
rs368206145	697	S>G		No	ESP ExAC TOPMed gnomAD
rs372827002	697	S>N		No	ESP ExAC TOPMed gnomAD
TCGA novel	698	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1389919705	699	V>I		No	gnomAD
rs1471439919	700	A>G		No	Ensembl
rs369186017	701	D>E		No	ESP ExAC TOPMed gnomAD
rs779331395	701	D>N		No	ExAC TOPMed gnomAD
rs1411550902	702	K>E		No	gnomAD
rs771699391	702	K>R		No	ExAC TOPMed gnomAD
CA1969953 rs61741755 RCV000605255	706	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
COSM3895365 rs200419099 COSM3895366	707	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1226276339	708	G>S		No	TOPMed gnomAD
rs1450653138	710	I>N		No	gnomAD
rs1695746531	713	K>R		No	TOPMed
rs900209195	715	S>N		No	TOPMed gnomAD
rs1695747860	717	G>A		No	TOPMed
COSM3570070 COSM3570069	717	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs774211535	717	G>R		No	ExAC gnomAD
rs1413114740	718	G>E		No	TOPMed gnomAD
rs767738503	718	G>R		No	ExAC TOPMed gnomAD
rs1695992849	719	E>D		No	gnomAD
rs1377646024	719	E>G		No	TOPMed gnomAD
rs760882869	720	K>T		No	ExAC TOPMed gnomAD
rs1695993409	721	V>A		No	TOPMed
rs1695993904	722	V>M		No	TOPMed
rs776636258	723	L>F		No	ExAC gnomAD
rs1173198164	723	L>P		No	TOPMed gnomAD
rs765738154	724	K>I		No	ExAC gnomAD
rs762232654	724	K>Q		No	ExAC gnomAD
rs758850034	725	P>A		No	ExAC gnomAD
rs766822647	725	P>H		No	ExAC TOPMed gnomAD
TCGA novel	726	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs775819213	728	V>I		No	ExAC TOPMed gnomAD
rs1187698546	730	V>A		No	TOPMed
rs17852174	732	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
COSM4086802 rs1267487098 COSM4086803	733	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs749149135	734	L>V		No	ExAC gnomAD
rs1695999562	737	N>S		No	Ensembl
rs1488522193	738	G>A		No	gnomAD
rs1488522193	738	G>E		No	gnomAD
rs1477905410	738	G>R		No	gnomAD
rs1342627748	739	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1041247190	739	R>H		No	TOPMed gnomAD
rs901032955	740	L>V		No	Ensembl
rs1696001801	741	F>S		No	TOPMed
rs747246063	743	C>S		No	ExAC gnomAD
rs768801695	744	P>L		No	ExAC TOPMed gnomAD
COSM1401318 rs2105919541 COSM5131621	745	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs181938855	745	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs181938855	745	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1005190762	748	F>L		No	TOPMed gnomAD
rs773813929	749	D>H		No	ExAC TOPMed gnomAD
COSM4306123 COSM441511 rs773813929	749	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1696004263	751	L>R		No	gnomAD
rs774875900	752	T>S		No	ExAC gnomAD
rs760025262	753	P>H		No	ExAC gnomAD
rs990114003	753	P>S		No	TOPMed
rs1463466671	754	L>V		No	Ensembl
rs2105952098	755	P>R		No	Ensembl
rs1696685750	756	E>D		No	TOPMed
rs767961499	757	Q>*		No	ExAC gnomAD
rs752461202	758	E>K		No	ExAC gnomAD
rs1273263159	759	G>D		No	TOPMed gnomAD
rs760230274	761	T>S		No	ExAC TOPMed gnomAD
COSM3570071 COSM3570072	763	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs763674225	764	T>A		No	ExAC TOPMed gnomAD
rs753221185	766	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1258649441	767	T>A		No	gnomAD
rs757218344	768	F>S		No	ExAC gnomAD
rs778775320	771	M>I		No	ExAC TOPMed gnomAD
rs982456267	771	M>K		No	Ensembl
rs1696689689	771	M>L		No	TOPMed
rs2105952402	772	S>N		No	1000Genomes
rs368291386	772	S>R		No	ESP ExAC TOPMed gnomAD
rs909564816	774	K>R		No	gnomAD
TCGA novel	775	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1696691149	776	L>V		No	TOPMed gnomAD
rs1696691385	777	A>V		No	TOPMed
rs779713347	778	Y>H		No	ExAC TOPMed gnomAD
rs942295714	779	Q>R		No	Ensembl
rs1696693121	780	M>I		No	TOPMed
rs1466707544	780	M>L		No	TOPMed gnomAD
rs547347982	780	M>T		No	1000Genomes gnomAD
rs1466707544	780	M>V		No	TOPMed gnomAD
rs1038395820	782	I>T		No	TOPMed gnomAD
rs748464371	783	Y>C		No	ExAC gnomAD
COSM4896266 COSM4896265	785	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1335988431	785	W>C		No	gnomAD
COSM228010	785	W>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	785	W>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1696694355	787	L>F		No	TOPMed
COSM717711	788	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs749328932	790	C>*		No	1000Genomes ExAC TOPMed gnomAD
rs533384493	791	V>L		No	ExAC TOPMed gnomAD
COSM303079 rs533384493	791	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs775037078	792	H>P		No	ExAC TOPMed gnomAD
rs775037078	792	H>R		No	ExAC TOPMed gnomAD
rs868615423	795	E>K		No	Ensembl
rs1488841003	797	I>V		No	gnomAD
COSM4086805 COSM4086804	798	Y>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1277536810	798	Y>C		No	TOPMed
rs1696739613	799	H>Y		No	TOPMed gnomAD
rs1267045328	800	T>I		No	TOPMed gnomAD
rs1696740605 TCGA novel	802	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs1198451235	803	R>K		No	gnomAD
rs776308533	803	R>S		No	ExAC gnomAD
rs761454311	807	K>E		No	ExAC gnomAD
TCGA novel	808	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1168233216	808	K>Q		No	TOPMed gnomAD
rs201741962	809	T>I		No	ESP ExAC TOPMed gnomAD
rs201741962	809	T>S		No	ESP ExAC TOPMed gnomAD
rs762975942	810	T>A		No	ExAC gnomAD
rs762975942	810	T>S		No	ExAC gnomAD
rs1696743574	814	D>N		No	TOPMed
rs1403899164	815	L>V		No	gnomAD
rs751490207	816	F>L		No	ExAC gnomAD
rs1338249446	816	F>L		No	TOPMed
rs1272032778	817	L>R		No	TOPMed gnomAD
rs748113177	818	R>K		No	Ensembl
COSM1009647	822	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3570074 COSM3570073	824	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1401320 COSM5156319 rs998130150	824	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	TOPMed NCI-TCGA Cosmic
COSM3798183 COSM3798182	826	W>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs368653870	827	V>I		No	ESP ExAC TOPMed gnomAD
rs575529555 COSM3798184 COSM3798185	828	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs757496107	829	T>A		No	ExAC gnomAD
rs866965664	830	E>K		No	Ensembl
rs779138580	835	S>F		No	ExAC gnomAD
rs1029492760	837	L>F		No	Ensembl
rs745903740	837	L>P		No	ExAC TOPMed gnomAD
rs1217589649	840	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs758967963	841	V>G		No	ExAC gnomAD
rs1263723678	841	V>I		No	gnomAD
rs972898572	844	L>F		No	TOPMed gnomAD
COSM4720347 COSM4720348	846	K>N	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1418711821 COSM4306134 COSM1669418	847	F>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1422204292	847	F>V		No	TOPMed
rs2105955630	848	I>T		No	Ensembl
rs1696750556	848	I>V		No	Ensembl
rs1696750798	849	K>E		No	TOPMed gnomAD
rs1696751568	850	I>M		No	TOPMed
rs747522075	850	I>V		No	ExAC gnomAD
rs1575555885	852	A>S		No	Ensembl
rs562145274	853	H>Q		No	1000Genomes TOPMed gnomAD
rs1243858891	858	K>E		No	Ensembl
TCGA novel	860	L>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs199973105	861	N>S		No	1000Genomes ExAC TOPMed gnomAD
rs1697052673	862	S>Y		No	TOPMed
COSM4402212 COSM4402211	863	F>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1348837578	863	F>L		No	gnomAD
rs1348837578	863	F>V		No	gnomAD
rs1283343729	865	A>G		No	gnomAD
rs777439596	867	V>I		No	ExAC TOPMed gnomAD
rs1697055679	868	M>I		No	TOPMed
rs773852799	872	N>I		No	ExAC gnomAD
rs373120144	873	V>I		No	ESP ExAC TOPMed gnomAD
rs1174641483	874	A>V		No	gnomAD
rs1406028409	875	V>L		No	gnomAD
rs1697058168	876	S>C		No	TOPMed gnomAD
rs369850284	877	R>C		No	ESP ExAC gnomAD
rs61756296	877	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs370128565	881	T>M		No	ESP ExAC gnomAD
rs1472524044	882	W>R		No	TOPMed
rs1697061440	883	E>G		No	Ensembl
TCGA novel	885	L>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs948190022	887	S>G		No	Ensembl
rs1371881378	887	S>N		No	gnomAD
rs756548382	889	F>I		No	ExAC gnomAD
rs764381755	890	K>E		No	ExAC TOPMed gnomAD
rs754182523	892	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
COSM4086807 COSM4086806	892	F>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1683562676	893	Y>C		No	Ensembl
rs368215776	894	A>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs368215776	894	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1383878411	895	E>D		No	TOPMed
rs1361342089	897	E>K		No	TOPMed gnomAD
rs1683974717	901	D>V		No	gnomAD
rs1204641003	901	D>Y		No	gnomAD
rs17853967	902	P>T		No	ExAC TOPMed gnomAD
rs373438925	903	S>L		No	ESP ExAC gnomAD
rs1157192946	905	N>D		No	gnomAD
rs746105058	906	H>L		No	ExAC gnomAD
rs1176806042	908	A>T		No	gnomAD
rs1683979316	913	V>E		No	gnomAD
rs775579801	915	K>N		No	ExAC TOPMed gnomAD
COSM5199849	917	E>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs768596167	918	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1683981813	920	L>F		No	TOPMed
rs1683982177	921	I>T		No	TOPMed gnomAD
rs1683982538	922	P>H		No	Ensembl
TCGA novel	922	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1298075159	923	F>L		No	TOPMed gnomAD
rs1304428925	924	M>I		No	gnomAD
rs1683983278	924	M>L		No	Ensembl
rs1185276258	925	P>L		No	TOPMed gnomAD
rs1683984300	926	L>*		No	TOPMed
rs1202883372	931	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1405160091	931	M>V		No	gnomAD
rs1684049198	932	T>I		No	gnomAD
rs1684048786	932	T>S		No	Ensembl
rs768846849	933	F>L		No	ExAC gnomAD
rs2106011675	934	T>I		No	Ensembl
rs776505596	935	H>L		No	ExAC TOPMed gnomAD
rs776505596	935	H>R		No	ExAC TOPMed gnomAD
rs1315385509	936	E>K		No	TOPMed gnomAD
rs1684051139	937	G>R		No	Ensembl
rs968767500	938	N>D		No	Ensembl
rs1309584852	939	K>E		No	Ensembl
rs762393121	939	K>T		No	ExAC TOPMed gnomAD
rs770147679	940	T>A		No	ExAC gnomAD
rs142094742	940	T>K		No	ESP ExAC TOPMed gnomAD
rs142094742	940	T>M		No	ESP ExAC TOPMed gnomAD
rs908294903	942	I>T		No	TOPMed gnomAD
rs1225000346	946	V>E		No	gnomAD
rs1312359055	948	F>C		No	TOPMed gnomAD
rs1312359055	948	F>S		No	TOPMed gnomAD
rs766939204	952	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs200990002	952	R>H		No	ESP ExAC TOPMed gnomAD
rs766939204	952	R>S		No	ExAC TOPMed gnomAD
rs764280338	953	M>I		No	ExAC TOPMed gnomAD
TCGA novel	953	M>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1312950217	953	M>V		No	gnomAD
rs760152592	954	I>T		No	ExAC gnomAD
rs1284779968	957	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
TCGA novel	958	A>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs868049932	958	A>T		No	Ensembl
rs1281262615	958	A>V		No	TOPMed gnomAD
rs1685798389	960	T>I		No	TOPMed gnomAD
rs995614052	962	R>K		No	Ensembl
rs750132915	962	R>S		No	ExAC TOPMed gnomAD
rs763938747	964	Y>C		No	TOPMed gnomAD
rs1685800553	966	S>N		No	gnomAD
rs1685800886	967	Q>R		No	TOPMed
TCGA novel	969	F>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1177411681	970	N>D		No	gnomAD
rs756350318	970	N>I		No	ExAC gnomAD
rs1409419205	971	P>S		No	TOPMed gnomAD
rs1575609097	974	A>T		No	Ensembl
rs1686259274	980	H>Y		No	TOPMed
rs201906810	984	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs201906810	984	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs778024739	984	R>W		No	ExAC TOPMed gnomAD
rs201446102	985	S>C		No	1000Genomes ExAC TOPMed gnomAD
rs201446102	985	S>G		No	1000Genomes ExAC TOPMed gnomAD
rs763051657	986	Y>C		No	TOPMed gnomAD
rs763051657	986	Y>F		No	TOPMed gnomAD
TCGA novel	986	Y>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1274464915	987	V>A		No	gnomAD
rs779338366	988	R>G		No	ExAC TOPMed gnomAD
rs1203991875	988	R>Q		No	gnomAD
rs779338366	988	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
COSM284468	989	Q>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs772384263	990	L>F		No	ExAC gnomAD
rs746373477	990	L>I		No	ExAC gnomAD
COSM1223154 COSM5829324	991	N>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs780398842	991	N>I		No	ExAC TOPMed gnomAD
rs568389939	992	V>A		No	1000Genomes
rs746676144	992	V>M		No	ExAC gnomAD
rs768247176	993	I>S		No	ExAC gnomAD
rs768247176	993	I>T		No	ExAC gnomAD
rs1575609208	994	D>E		No	Ensembl
rs776146322	996	Q>R		No	ExAC
rs761350595	997	R>K		No	ExAC gnomAD
rs769321346	998	T>I		No	ExAC TOPMed gnomAD
rs769321346	998	T>S		No	ExAC TOPMed gnomAD
rs1686267486	1002	M>I		No	gnomAD
rs1429429013	1002	M>V		No	gnomAD
rs762886113	1005	R>K		No	ExAC TOPMed gnomAD
rs1406577544	1006	L>F		No	gnomAD
rs372917537	1006	L>S		No	ESP ExAC gnomAD
rs369058413	1006	L>V		No	ESP TOPMed
rs1321283591	1009	R>C		No	gnomAD
rs751352704	1009	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs761012829	1010	R>*		No	ExAC TOPMed gnomAD
rs761012829	1010	R>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1264581982	1010	R>Q		No	TOPMed

No associated diseases with Q8WZA2

2 regional properties for Q8WZA2

Type	Name	Position	InterPro Accession
domain	Longin domain	4 - 116	IPR010908
domain	v-SNARE, coiled-coil homology domain	124 - 210	IPR042855

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Membrane ; Peripheral membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
hippocampal mossy fiber to CA3 synapse	One of the giant synapses that form between the mossy fiber axons of dentate gyrus granule cells and the large complex spines of CA3 pyramidal cells. It consists of a giant bouton known as the mossy fiber expansion, synapsed to the complex, multiheaded spine (thorny excresence) of a CA3 pyramidal cell.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

4 GO annotations of molecular function

Name	Definition
cAMP binding	Binding to cAMP, the nucleotide cyclic AMP (adenosine 3',5'-cyclophosphate).
guanyl-nucleotide exchange factor activity	Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.
protein-macromolecule adaptor activity	The binding activity of a protein that brings together two or more macromolecules in contact, permitting those molecules to function in a coordinated way. The adaptor can bring together two proteins, or a protein and another macromolecule such as a lipid or a nucleic acid.
small GTPase binding	Binding to a small monomeric GTPase.

9 GO annotations of biological process

Name	Definition
adaptive immune response	An immune response mediated by cells expressing specific receptors for antigens produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).
adenylate cyclase-activating G protein-coupled receptor signaling pathway	A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation of adenylyl cyclase activity and a subsequent increase in the intracellular concentration of cyclic AMP (cAMP).
calcium-ion regulated exocytosis	The release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle by fusion of the vesicle with the plasma membrane of a cell, induced by a rise in cytosolic calcium-ion levels.
G protein-coupled receptor signaling pathway	The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane.
insulin secretion	The regulated release of proinsulin from secretory granules accompanied by cleavage of proinsulin to form mature insulin. In vertebrates, insulin is secreted from B granules in the B cells of the vertebrate pancreas and from insulin-producing cells in insects.
positive regulation of insulin secretion	Any process that activates or increases the frequency, rate or extent of the regulated release of insulin.
Ras protein signal transduction	The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state.
regulation of exocytosis	Any process that modulates the frequency, rate or extent of exocytosis.
regulation of synaptic vesicle cycle	Any process that modulates the frequency, rate or extent of the synaptic vesicle cycle.

17 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q07890	SOS2	Son of sevenless homolog 2	Homo sapiens (Human)	SS
Q07889	SOS1	Son of sevenless homolog 1	Homo sapiens (Human)	EV
Q13905	RAPGEF1	Rap guanine nucleotide exchange factor 1	Homo sapiens (Human)	PR
O95398	RAPGEF3	Rap guanine nucleotide exchange factor 3	Homo sapiens (Human)	EV
Q8N431	RASGEF1C	Ras-GEF domain-containing family member 1C	Homo sapiens (Human)	PR
Q8N9B8	RASGEF1A	Ras-GEF domain-containing family member 1A	Homo sapiens (Human)	PR
Q8IZJ4	RGL4	Ral-GDS-related protein	Homo sapiens (Human)	PR
Q12967	RALGDS	Ral guanine nucleotide dissociation stimulator	Homo sapiens (Human)	PR
O95267	RASGRP1	RAS guanyl-releasing protein 1	Homo sapiens (Human)	EV
Q8TDF6	RASGRP4	RAS guanyl-releasing protein 4	Homo sapiens (Human)	SS
Q7LDG7	RASGRP2	RAS guanyl-releasing protein 2	Homo sapiens (Human)	EV SS
Q8IV61	RASGRP3	Ras guanyl-releasing protein 3	Homo sapiens (Human)	SS
Q86X27	RALGPS2	Ras-specific guanine nucleotide-releasing factor RalGPS2	Homo sapiens (Human)	PR
Q5JS13	RALGPS1	Ras-specific guanine nucleotide-releasing factor RalGPS1	Homo sapiens (Human)	PR
Q8VCC8	Rapgef3	Rap guanine nucleotide exchange factor 3	Mus musculus (Mouse)	SS
Q9EQZ6	Rapgef4	Rap guanine nucleotide exchange factor 4	Mus musculus (Mouse)	EV
Q9Z1C8	Rapgef3	Rap guanine nucleotide exchange factor 3	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MVAAHAAHSS	SSAEWIACLD	KRPLERSSED	VDIIFTRLKE	VKAFEKFHPN	LLHQICLCGY
70	80	90	100	110	120
YENLEKGITL	FRQGDIGTNW	YAVLAGSLDV	KVSETSSHQD	AVTICTLGIG	TAFGESILDN
130	140	150	160	170	180
TPRHATIVTR	ESSELLRIEQ	KDFKALWEKY	RQYMAGLLAP	PYGVMETGSN	NDRIPDKENT
190	200	210	220	230	240
PLIEPHVPLR	PANTITKVPS	EKILRAGKIL	RNAILSRAPH	MIRDRKYHLK	TYRQCCVGTE
250	260	270	280	290	300
LVDWMMQQTP	CVHSRTQAVG	MWQVLLEDGV	LNHVDQEHHF	QDKYLFYRFL	DDEHEDAPLP
310	320	330	340	350	360
TEEEKKECDE	ELQDTMLLLS	QMGPDAHMRM	ILRKPPGQRT	VDDLEIIYEE	LLHIKALSHL
370	380	390	400	410	420
STTVKRELAG	VLIFESHAKG	GTVLFNQGEE	GTSWYIILKG	SVNVVIYGKG	VVCTLHEGDD
430	440	450	460	470	480
FGKLALVNDA	PRAASIVLRE	DNCHFLRVDK	EDFNRILRDV	EANTVRLKEH	DQDVLVLEKV
490	500	510	520	530	540
PAGNRASNQG	NSQPQQKYTV	MSGTPEKILE	HFLETIRLEA	TLNEATDSVL	NDFIMMHCVF
550	560	570	580	590	600
MPNTQLCPAL	VAHYHAQPSQ	GTEQEKMDYA	LNNKRRVIRL	VLQWAAMYGD	LLQEDDVSMA
610	620	630	640	650	660
FLEEFYVSVS	DDARMIAALK	EQLPELEKIV	KQISEDAKAP	QKKHKVLLQQ	FNTGDERAQK
670	680	690	700	710	720
RQPIRGSDEV	LFKVYCMDHT	YTTIRVPVAT	SVKEVISAVA	DKLGSGEGLI	IVKMSSGGEK
730	740	750	760	770	780
VVLKPNDVSV	FTTLTINGRL	FACPREQFDS	LTPLPEQEGP	TVGTVGTFEL	MSSKDLAYQM
790	800	810	820	830	840
TIYDWELFNC	VHELELIYHT	FGRHNFKKTT	ANLDLFLRRF	NEIQFWVVTE	ICLCSQLSKR
850	860	870	880	890	900
VQLLKKFIKI	AAHCKEYKNL	NSFFAIVMGL	SNVAVSRLAL	TWEKLPSKFK	KFYAEFESLM
910	920	930	940	950	960
DPSRNHRAYR	LTVAKLEPPL	IPFMPLLIKD	MTFTHEGNKT	FIDNLVNFEK	MRMIANTART
970	980	990	1000	1010
VRYYRSQPFN	PDAAQANKNH	QDVRSYVRQL	NVIDNQRTLS	QMSHRLEPRR	P