AiPD: Autoinhibited Protein Database

Q9UPP2

Gene name	IQSEC3 (KIAA1110)
Protein name	IQ motif and SEC7 domain-containing protein 3
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:440073
EC number
Protein Class

Descriptions

IQ motif and SEC7 domain-containing protein 2 (IQSEC2, also known as BRAG1) is a guanine nucleotide exchange factor (GEF) that is highly enriched in synapses. The autoinhibition of IQSEC2 is mediated by its IQ motif, which binds to apo-CaM and folds together with its Sec7-PH tandem, leading IQSEC2 to adopt a closed conformation in the absence of Ca2+. This autoinhibition is released by calcium binding, which triggers a conformational change that exposes the DH domain for activation.

Autoinhibitory domains (AIDs)

315-344 (IQ motif) SS

Target domain	644-981 (Sec7-PH domains)
Relief mechanism	Ligand binding
Assay

AID

315-344 (IQ motif)

Target domain

644-981 (Sec7-PH domains)

Relief mechanism

Ligand binding (Calcium binding)

Assay

Accessory elements

No accessory elements

References

Bai G et al. (2023) "Ca2+-induced release of IQSEC2/BRAG1 autoinhibition under physiological and pathological conditions", The Journal of cell biology, 222,

Autoinhibited structure

Activated structure

1 structures for Q9UPP2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UPP2-F1	Predicted				AlphaFoldDB

1523 variants for Q9UPP2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000855507 rs1448451909	353	L>P	Fetal akinesia deformation sequence 1 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs1215403827	2	E>D		No	1000Genomes TOPMed gnomAD
rs782357157	2	E>G		No	ExAC gnomAD
rs1863107282	2	E>K		No	Ensembl
rs1863107600	3	S>G		No	Ensembl
rs1555065384	3	S>N		No	gnomAD
rs1555065388	3	S>R		No	gnomAD
rs1863108012	6	E>Q		No	Ensembl
rs781921811	7	N>I		No	ExAC gnomAD
rs1863108231	8	P>L		No	Ensembl
rs1555065398	9	V>M		No	gnomAD
rs1281876621	10	R>H		No	TOPMed gnomAD
rs1863108749	11	A>S		No	Ensembl
rs782034496	12	V>L		No	ExAC TOPMed gnomAD
rs782034496	12	V>M		No	ExAC TOPMed gnomAD
RCV000958659 rs182407328	14	Y>C		No	ClinVar 1000Genomes ExAC dbSNP gnomAD
rs1555065419	15	L>F		No	gnomAD
TCGA novel	17	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1555065430	19	T>K		No	gnomAD
rs1555065430	19	T>M		No	gnomAD
rs1415599535	21	I>V		No	TOPMed gnomAD
rs1863110047	22	V>L		No	TOPMed gnomAD
COSM3811609 rs2650190	24	N>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes NCI-TCGA gnomAD
rs1863110667	26	Q>H		No	gnomAD
rs1555065462	27	S>N		No	gnomAD
rs2136844241	27	S>R		No	Ensembl
rs1555065468	28	L>F		No	gnomAD
rs782392490	29	I>V		No	ExAC gnomAD
rs1555065478	30	H>N		No	gnomAD
rs1863111387	30	H>Q		No	TOPMed
rs1555065485	31	T>N		No	gnomAD
rs17852242	31	T>S		No	1000Genomes ExAC gnomAD
rs1555065488	32	Q>*		No	gnomAD
rs1555065494	32	Q>H		No	gnomAD
rs1863111999	33	R>P		No	TOPMed
rs1863111999	33	R>Q		No	TOPMed
rs1863112361	35	R>H		No	TOPMed
rs1555065497	35	R>S		No	gnomAD
rs1555065499	36	I>M		No	gnomAD
rs1168423939	37	D>G		No	TOPMed gnomAD
rs1555065504	37	D>N		No	gnomAD
rs1863112761	38	E>K		No	Ensembl
rs1421179153	41	R>L		No	gnomAD
rs1421179153	41	R>Q		No	gnomAD
rs1863113215	42	R>L		No	TOPMed gnomAD
rs1863113215	42	R>Q		No	TOPMed gnomAD
rs2136844463	43	L>V		No	Ensembl
rs1192612295	45	E>D		No	TOPMed
rs782216170	45	E>K		No	Ensembl
rs555501655	46	L>M		No	1000Genomes ExAC gnomAD
rs1475350733	47	S>G		No	TOPMed gnomAD
rs190564513	48	A>S		No	1000Genomes gnomAD
rs190564513	48	A>T		No	1000Genomes gnomAD
rs1863114067	48	A>V		No	Ensembl
rs2136844550	50	N>D		No	Ensembl
rs1555065550	51	R>C		No	gnomAD
rs1555065550	51	R>G		No	gnomAD
rs782705539	51	R>H		No	ExAC TOPMed gnomAD
rs782705539	51	R>L		No	ExAC TOPMed gnomAD
rs1555065562	52	S>N		No	gnomAD
rs1863114433	52	S>R		No	Ensembl
rs1555065576	55	E>D		No	gnomAD
rs2136844611	55	E>G		No	Ensembl
rs1198036213	56	H>Q		No	TOPMed
rs1274401682	56	H>R		No	Ensembl
rs1555065581	56	H>Y		No	gnomAD
rs1555065589	57	Q>*		No	gnomAD
rs1555065597	58	Q>K		No	gnomAD
rs1555065602	59	L>P		No	gnomAD
rs1555065602	59	L>R		No	gnomAD
rs1863115985	60	L>R		No	TOPMed gnomAD
rs1555065613	61	Q>K		No	gnomAD
rs1555065620	62	A>T		No	gnomAD
rs1863116265	63	Q>R		No	Ensembl
rs1337230117	64	P>L		No	gnomAD
rs1740030482	64	P>S		No	gnomAD
rs1282582574	65	P>S		No	TOPMed gnomAD
rs1447480625	66	P>H		No	TOPMed gnomAD
rs1555065645	67	G>R		No	TOPMed gnomAD
rs1336394821	68	L>F		No	1000Genomes TOPMed gnomAD
rs1336394821	68	L>V		No	1000Genomes TOPMed gnomAD
rs1863117292	69	V>A		No	Ensembl
rs1863117292	69	V>D		No	Ensembl
rs1397980012	69	V>F		No	gnomAD
rs1397980012	69	V>I		No	gnomAD
rs1161087760	70	P>A		No	TOPMed gnomAD
rs1161087760	70	P>S		No	TOPMed gnomAD
rs1161087760	70	P>T		No	TOPMed gnomAD
rs782773124	71	P>A		No	ExAC TOPMed gnomAD
rs1456848738	71	P>L		No	TOPMed gnomAD
rs1456848738	71	P>Q		No	TOPMed gnomAD
rs1456848738	71	P>R		No	TOPMed gnomAD
rs782773124	71	P>S		No	ExAC TOPMed gnomAD
rs782773124	71	P>T		No	ExAC TOPMed gnomAD
rs1214720474	72	S>L		No	TOPMed gnomAD
rs1555065710	73	S>L		No	gnomAD
rs1470095058	74	A>P		No	TOPMed gnomAD
rs1470095058	74	A>S		No	TOPMed gnomAD
rs1470095058	74	A>T		No	TOPMed gnomAD
rs1288042051	74	A>V		No	1000Genomes gnomAD
rs1227939773	75	P>L		No	TOPMed gnomAD
rs1227939773	75	P>R		No	TOPMed gnomAD
rs1555065740	75	P>S		No	TOPMed gnomAD
rs1863119534	76	L>P		No	Ensembl
rs1281384921	77	P>L		No	gnomAD
rs1281384921	77	P>Q		No	gnomAD
rs1555065766	78	A>S		No	TOPMed gnomAD
rs1863119987	79	A>D		No	TOPMed
rs1441449249	79	A>P		No	TOPMed gnomAD
rs1441449249	79	A>S		No	TOPMed gnomAD
rs1441449249	79	A>T		No	TOPMed gnomAD
TCGA novel	80	P>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782479309	80	P>L		No	ExAC gnomAD
rs782479309	80	P>R		No	ExAC gnomAD
rs1863120084	80	P>T		No	TOPMed
rs1159935444	81	A>V		No	TOPMed gnomAD
rs2136845216	82	T>P		No	Ensembl
rs1380286989	83	A>S		No	Ensembl
rs1591614795	84	P>S		No	Ensembl
rs1863121118	85	A>S		No	Ensembl
rs1555065801	86	A>T		No	gnomAD
rs1863121641	86	A>V		No	Ensembl
rs1221246660	87	A>D		No	gnomAD
rs782606282	88	A>S		No	ExAC gnomAD
TCGA novel	89	R>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1555065817	91	Q>K		No	gnomAD
rs1555065820	91	Q>P		No	TOPMed gnomAD
rs1555065820	91	Q>R		No	TOPMed gnomAD
rs1863122881	92	E>D		No	Ensembl
rs2136845481	92	E>G		No	Ensembl
TCGA novel	94	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs563815894	95	Q>H		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	95	Q>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782295926	96	D>H		No	1000Genomes ExAC gnomAD
rs782295926	96	D>N		No	1000Genomes ExAC gnomAD
rs782295926	96	D>Y		No	1000Genomes ExAC gnomAD
rs1435407081	97	Q>K		No	Ensembl
rs1555065843	97	Q>R		No	gnomAD
rs782371387	98	G>R		No	ExAC
rs1721524273	98	G>V		No	TOPMed gnomAD
rs1863123797	99	Q>L		No	TOPMed gnomAD
rs1555065854	100	R>C		No	gnomAD
rs1345432109	102	A>P		No	TOPMed gnomAD
rs1345432109	102	A>T		No	TOPMed gnomAD
rs1863124341	102	A>V		No	TOPMed
rs1299634766	103	A>T		No	gnomAD
rs1863124522	103	A>V		No	TOPMed gnomAD
rs782661487	104	A>G		No	ExAC TOPMed gnomAD
rs2136845671	104	A>T		No	1000Genomes
rs782661487	104	A>V		No	ExAC TOPMed gnomAD
rs1173665393	105	P>L		No	TOPMed gnomAD
rs1173665393	105	P>Q		No	TOPMed gnomAD
rs1173665393	105	P>R		No	TOPMed gnomAD
rs1435456164	106	H>N		No	TOPMed gnomAD
rs1435456164	106	H>Y		No	TOPMed gnomAD
rs1555065872	107	P>S		No	gnomAD
rs1555065872	107	P>T		No	gnomAD
rs1475940208	108	A>E		No	TOPMed gnomAD
rs1475940208	108	A>G		No	TOPMed gnomAD
rs1190999382	108	A>P		No	TOPMed
rs1190999382	108	A>T		No	TOPMed
rs2136845857	109	P>R		No	1000Genomes
rs1863126252	109	P>S		No	gnomAD
rs1281152936	110	D>N		No	TOPMed gnomAD
rs1313886041	111	R>W		No	1000Genomes TOPMed gnomAD
rs1863126866	112	P>Q		No	Ensembl
rs1591614973	112	P>T		No	Ensembl
rs1555065901	113	P>Q		No	gnomAD
rs1555065899	113	P>S		No	1000Genomes TOPMed gnomAD
rs1555065899	113	P>T		No	1000Genomes TOPMed gnomAD
rs782416232	114	R>C		No	ExAC TOPMed gnomAD
rs1863127537	114	R>L		No	TOPMed
rs1863127637	115	Q>R		No	gnomAD
rs1591615013	116	H>Y		No	Ensembl
rs1555065914	117	H>Q		No	gnomAD
rs1555065918	118	G>R		No	TOPMed gnomAD
rs1863128201	119	Q>E		No	TOPMed
rs782123547	121	L>P		No	ExAC TOPMed gnomAD
rs782123547	121	L>Q		No	ExAC TOPMed gnomAD
rs781836048	122	E>D		No	ExAC gnomAD
rs1175975263	122	E>G		No	gnomAD
rs1555065937	122	E>Q		No	gnomAD
rs1175975263	122	E>V		No	gnomAD
TCGA novel	123	Q>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1426198477	123	Q>R		No	gnomAD
rs782046194	124	P>A		No	ExAC gnomAD
rs781892955	124	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs781892955	124	P>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs782046194	124	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs782046194	124	P>T		No	ExAC gnomAD
rs1482309655	125	Q>L		No	TOPMed gnomAD
rs1482309655	125	Q>P		No	TOPMed gnomAD
COSM1743573 rs575821597	126	R>Q	biliary_tract [Cosmic]	No	cosmic curated 1000Genomes ExAC gnomAD
rs1555065980	126	R>W		No	TOPMed gnomAD
rs782487584	127	G>D		No	ExAC TOPMed gnomAD
rs1555065986	127	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs782487584	127	G>V		No	ExAC TOPMed gnomAD
rs782185621	128	P>A		No	ExAC gnomAD
rs1555066004	128	P>L		No	TOPMed gnomAD
rs782185621	128	P>S		No	ExAC gnomAD
rs1259789284	129	G>D		No	TOPMed
rs1259789284	129	G>V		No	TOPMed
rs1555066026	130	S>C		No	TOPMed gnomAD
rs1555066026	130	S>G		No	TOPMed gnomAD
rs1555066032	130	S>N		No	TOPMed gnomAD
rs1216498754	130	S>R		No	Ensembl
rs782676329	131	R>G		No	ExAC gnomAD
rs782241791	131	R>K		No	ExAC gnomAD
rs1555066046	132	A>D		No	gnomAD
rs1863131990	132	A>S		No	Ensembl
rs1863131990	132	A>T		No	Ensembl
rs782386988	133	H>L		No	ExAC gnomAD
rs782386988	133	H>R		No	ExAC gnomAD
TCGA novel	133	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs373251192	134	T>I		No	ESP TOPMed gnomAD
rs201674330	135	P>A		No	ESP ExAC gnomAD
rs1376310136	135	P>L		No	TOPMed gnomAD
rs201674330	135	P>S		No	ESP ExAC gnomAD
rs201674330	135	P>T		No	ESP ExAC gnomAD
rs1443588330	136	Q>K		No	TOPMed gnomAD
rs1555066069	136	Q>R		No	gnomAD
rs182788055	137	S>L		No	1000Genomes ExAC TOPMed gnomAD
rs1555066076	137	S>T		No	gnomAD
rs182788055	137	S>W		No	1000Genomes ExAC TOPMed gnomAD
rs1168985254	138	P>L		No	TOPMed
rs782143365	139	H>N		No	ExAC TOPMed gnomAD
rs2650189	139	H>Q		No	1000Genomes
rs782143365	139	H>Y		No	ExAC TOPMed gnomAD
rs1422175864	141	H>N		No	TOPMed gnomAD
rs1422175864	141	H>Y		No	TOPMed gnomAD
rs1555066111	142	L>M		No	gnomAD
rs1555066117	143	G>E		No	gnomAD
rs1565370801	144	T>A		No	Ensembl
rs1591615296	144	T>R		No	Ensembl
TCGA novel	145	Q>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1555066128	146	G>W		No	TOPMed gnomAD
rs781844510	147	A>G		No	ExAC gnomAD
rs528750416	147	A>S		No	1000Genomes ExAC TOPMed gnomAD
rs528750416	147	A>T		No	1000Genomes ExAC TOPMed gnomAD
rs781844510	147	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs547014567	148	V>A		No	1000Genomes ExAC TOPMed gnomAD
rs547014567	148	V>E		No	1000Genomes ExAC TOPMed gnomAD
rs781891923	148	V>L		No	ExAC TOPMed gnomAD
rs781891923	148	V>M		No	ExAC TOPMed gnomAD
rs1555066164	150	D>A		No	gnomAD
rs1555066167	150	D>E		No	gnomAD
rs1311425538	152	E>K		No	TOPMed gnomAD
rs1555066176	153	K>N		No	TOPMed gnomAD
COSM3458701	153	K>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782211019	154	E>K		No	ExAC TOPMed gnomAD
rs1863136806	155	R>C		No	gnomAD
rs1863136806	155	R>G		No	gnomAD
rs782486243	155	R>H		No	ExAC TOPMed gnomAD
rs782486243	155	R>L		No	ExAC TOPMed gnomAD
rs1863137214	156	P>L		No	TOPMed
rs1700154492	156	P>S		No	TOPMed
rs782565500	157	P>L		No	ExAC TOPMed gnomAD
rs782565500	157	P>Q		No	ExAC TOPMed gnomAD
rs1555066207	158	S>N		No	gnomAD
rs782035017	159	C>F		No	ExAC TOPMed gnomAD
rs1456612247	160	C>S		No	Ensembl
rs1349450318	161	A>P		No	TOPMed gnomAD
rs1349450318	161	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1863138145	161	A>V		No	Ensembl
rs1441608100	163	A>S		No	TOPMed gnomAD
rs1441608100	163	A>T		No	TOPMed gnomAD
rs1863138747	164	G>A		No	gnomAD
rs1176668849	164	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	gnomAD NCI-TCGA
COSM3811610	165	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1863138842	165	A>V		No	TOPMed
rs782393243	167	L>F		No	ExAC TOPMed gnomAD
rs1863139230	167	L>P		No	gnomAD
rs781951678	168	Q>H		No	ExAC gnomAD
rs1863139330	168	Q>P		No	Ensembl
rs1216774878	169	H>R		No	gnomAD
rs1863139519	169	H>Y		No	TOPMed
rs1555066244	170	K>I		No	gnomAD
rs782704559	171	S>C		No	1000Genomes ExAC gnomAD
rs782704559	171	S>F		No	1000Genomes ExAC gnomAD
rs782704559	171	S>Y		No	1000Genomes ExAC gnomAD
rs1565370991	172	P>L		No	Ensembl
rs1555066253	172	P>S		No	gnomAD
COSM3871202	173	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1555066262	174	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1385397195	176	G>S		No	gnomAD
rs782740148	177	K>N		No	ExAC gnomAD
COSM3458702	178	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs781788767	179	V>I		No	ExAC gnomAD
rs1863141578	180	L>P		No	Ensembl
rs368984098	180	L>V		No	ESP ExAC TOPMed gnomAD
rs1863141785	181	S>N		No	Ensembl
rs782674635	182	R>K		No	ExAC gnomAD
COSM6136232	182	R>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782288648	182	R>S		No	ExAC gnomAD
COSM937677	183	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782515086	184	P>A		No	ExAC gnomAD
rs782642051	184	P>L		No	1000Genomes ExAC gnomAD
rs1555066301	185	E>Q		No	gnomAD
rs782386736	186	N>I		No	ExAC TOPMed gnomAD
rs782386736	186	N>S		No	ExAC TOPMed gnomAD
rs1555075444	186	N>Y		No	gnomAD
rs1421449521	187	E>K		No	TOPMed gnomAD
rs966822796	189	V>A		No	TOPMed gnomAD
rs782374992	189	V>M		No	ExAC TOPMed gnomAD
rs1000912232	196	P>L		No	gnomAD
rs782035854	198	A>S		No	ExAC TOPMed gnomAD
rs782035854	198	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs868945432	198	A>V		No	gnomAD
rs781987573	199	D>N		No	ExAC gnomAD
rs1555075479	200	A>D		No	gnomAD
rs782746570	200	A>T		No	ExAC TOPMed gnomAD
rs782053504	202	S>T		No	ExAC TOPMed gnomAD
rs782120797	203	D>N		No	ExAC TOPMed gnomAD
rs1223302266	205	A>D		No	TOPMed
rs1555075484	205	A>S		No	gnomAD
rs781896994	207	Q>*		No	ExAC gnomAD
rs1371890440	207	Q>R		No	Ensembl
rs1555075497	208	S>I		No	gnomAD
rs1555075497	208	S>N		No	gnomAD
rs368059304	209	D>Y		No	ESP ExAC TOPMed gnomAD
rs1246255023	210	G>D		No	TOPMed gnomAD
rs2136968228	212	C>Y		No	Ensembl
rs1322965143	213	T>I		No	TOPMed gnomAD
rs1555083028	214	Q>E		No	gnomAD
rs782422024	214	Q>H		No	ExAC TOPMed gnomAD
rs374789572	216	G>S		No	ESP ExAC TOPMed gnomAD
rs1555083035	217	G>W		No	gnomAD
rs781957490	218	G>A		No	ExAC TOPMed gnomAD
rs781957490	218	G>D		No	ExAC TOPMed gnomAD
rs1865365212	218	G>S		No	Ensembl
rs1555083041	220	E>D		No	TOPMed gnomAD
rs1407699430	221	D>G		No	TOPMed gnomAD
rs1395584154	222	S>F		No	TOPMed
rs917587139	223	V>A		No	Ensembl
rs782712368	223	V>M		No	ExAC TOPMed gnomAD
rs1865366105	224	V>G		No	Ensembl
rs1865366298	225	A>S		No	Ensembl
rs782013881	226	A>V		No	ExAC TOPMed gnomAD
rs1865366701	227	A>T		No	gnomAD
rs372632887	227	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs377259498	228	A>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs377259498	228	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2136968426	229	V>G		No	Ensembl
rs1250304664	230	A>T		No	TOPMed
rs1865367490	230	A>V		No	TOPMed gnomAD
rs1555083078	231	A>D		No	gnomAD
rs1271858816	232	G>D		No	Ensembl
rs782459662	232	G>S		No	ExAC TOPMed gnomAD
rs1555083089	234	P>L		No	TOPMed gnomAD
rs1555083089	234	P>R		No	TOPMed gnomAD
rs1232078649	235	S>I		No	TOPMed
rs1232078649	235	S>N		No	TOPMed
rs1232078649	235	S>T		No	TOPMed
rs200809668	236	A>T		No	ExAC TOPMed gnomAD
rs781909069	236	A>V		No	ExAC TOPMed gnomAD
rs1226268780	237	H>Y		No	TOPMed gnomAD
rs1049814565	238	A>D		No	TOPMed gnomAD
rs1049814565	238	A>V		No	TOPMed gnomAD
rs200538443	239	P>L		No	1000Genomes ExAC TOPMed gnomAD
rs1555083101	239	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs372002720	241	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1865369230	242	Q>E		No	TOPMed
rs782304436	243	A>D		No	ExAC gnomAD
TCGA novel	244	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1555083116	245	E>*		No	gnomAD
rs1555083117	247	Q>K		No	gnomAD
rs781880398	249	E>Q		No	ExAC TOPMed gnomAD
rs781981295	250	E>K		No	ExAC
TCGA novel	251	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs995338968	252	R>L		No	TOPMed gnomAD
rs995338968	252	R>Q		No	TOPMed gnomAD
rs201602741	252	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD
rs372928257	253	P>L		No	ESP ExAC TOPMed gnomAD
rs372928257	253	P>R		No	ESP ExAC TOPMed gnomAD
rs868929002	254	G>R		No	Ensembl
rs1555083135	255	A>T		No	gnomAD
rs374686235	255	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP NCI-TCGA TOPMed gnomAD
rs1865371642	256	G>E		No	gnomAD
rs1555083140	256	G>R		No	gnomAD
rs1555083143	257	A>V		No	gnomAD
rs990547396	258	A>T		No	TOPMed gnomAD
rs1256262167	259	S>F		No	TOPMed gnomAD
rs1349446357	259	S>P		No	1000Genomes TOPMed gnomAD
rs1349446357	259	S>T		No	1000Genomes TOPMed gnomAD
rs1256262167	259	S>Y		No	TOPMed gnomAD
rs1865372299	260	P>S		No	Ensembl
rs1555083151	261	R>K		No	gnomAD
rs545890924	262	A>S		No	1000Genomes ExAC TOPMed gnomAD
rs1302571442	262	A>V		No	Ensembl
rs977776024	263	G>D		No	Ensembl
rs199751187	263	G>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1865373323	264	P>A		No	gnomAD
rs1865373455	264	P>L		No	Ensembl
rs1865373323	264	P>S		No	gnomAD
rs924894893	265	Q>*		No	gnomAD
rs1865373770	265	Q>R		No	TOPMed
rs1384439997	268	A>T		No	TOPMed gnomAD
rs1173388181	268	A>V		No	Ensembl
rs376118139	269	S>C		No	1000Genomes ExAC TOPMed gnomAD
rs376118139	269	S>F		No	1000Genomes ExAC TOPMed gnomAD
rs1555083185	269	S>P		No	gnomAD
rs376118139	269	S>Y		No	1000Genomes ExAC TOPMed gnomAD
rs1865375000	270	P>L		No	TOPMed
rs781875732	270	P>S		No	ExAC TOPMed gnomAD
rs781797524	271	G>D		No	ExAC TOPMed gnomAD
rs149942108	271	G>S		No	1000Genomes ExAC TOPMed gnomAD
rs529305501	272	R>P		No	ExAC TOPMed gnomAD
rs529305501	272	R>Q		No	ExAC TOPMed gnomAD
rs546662623	272	R>W		No	1000Genomes ExAC TOPMed gnomAD
rs1865375484	273	Q>E		No	Ensembl
rs1228893726	273	Q>R		No	TOPMed
rs1344172828	274	Q>H		No	TOPMed gnomAD
rs1865375959	275	P>R		No	Ensembl
rs1268347584	275	P>S		No	TOPMed gnomAD
rs1268347584	275	P>T		No	TOPMed gnomAD
rs782556087	276	A>T		No	ExAC TOPMed gnomAD
rs1325987090	277	L>P		No	TOPMed gnomAD
rs782595467	278	A>E		No	1000Genomes ExAC TOPMed gnomAD
rs1008679694	278	A>T		No	TOPMed gnomAD
rs782595467	278	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs897102285	279	T>A		No	TOPMed gnomAD
rs200670002	279	T>K		No	1000Genomes ExAC TOPMed gnomAD
rs200670002	279	T>M		No	1000Genomes ExAC TOPMed gnomAD
rs200670002	279	T>R		No	1000Genomes ExAC TOPMed gnomAD
rs529134883	280	A>E		No	1000Genomes ExAC TOPMed gnomAD
rs782130595	280	A>T		No	ExAC TOPMed gnomAD
rs529134883	280	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs782700082	281	L>P		No	ExAC TOPMed
rs1555083233	282	C>R		No	gnomAD
rs1555083233	282	C>S		No	gnomAD
rs12822449	283	P>A		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1025177088	283	P>L		No	TOPMed gnomAD
rs12822449	283	P>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs12822449	283	P>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2136969233	284	H>L		No	Ensembl
rs1270779125	284	H>N		No	TOPMed gnomAD
rs1270779125	284	H>Y		No	TOPMed gnomAD
rs781858989	285	A>D		No	1000Genomes ExAC gnomAD
rs376973065	285	A>S		No	ESP ExAC TOPMed gnomAD
rs376973065	285	A>T		No	ESP ExAC TOPMed gnomAD
rs781858989	285	A>V		No	1000Genomes ExAC gnomAD
rs1555083269	286	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1555083274	287	A>S		No	gnomAD
rs1284909239	287	A>V		No	TOPMed gnomAD
rs1353755612	288	A>T		No	TOPMed gnomAD
rs957665757	288	A>V		No	TOPMed gnomAD
rs1327433636	290	D>E		No	TOPMed gnomAD
rs782247860	290	D>N		No	ExAC TOPMed gnomAD
rs782247860	290	D>Y		No	ExAC TOPMed gnomAD
rs1415185889	292	E>K		No	TOPMed gnomAD
rs1555083286	293	L>F		No	TOPMed gnomAD
rs1555083286	293	L>I		No	TOPMed gnomAD
rs1865381289	294	S>F		No	TOPMed gnomAD
rs1473941367	296	D>A		No	TOPMed gnomAD
rs1591685710	296	D>N		No	TOPMed gnomAD
rs1416634054	298	K>R		No	TOPMed gnomAD
rs912678330	299	N>Y		No	TOPMed gnomAD
rs1555083306	301	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1277162923	302	I>T		No	TOPMed
rs1865851011	304	M>I		No	Ensembl
rs782463108	304	M>T		No	ExAC gnomAD
rs782789914	306	E>K		No	ExAC gnomAD
rs1555087035	306	E>V		No	Ensembl
rs781849176	307	H>L		No	ExAC TOPMed gnomAD
rs781849176	307	H>P		No	ExAC TOPMed gnomAD
rs781849176	307	H>R		No	ExAC TOPMed gnomAD
rs2136996063	310	G>C		No	Ensembl
rs1865852008	311	G>D		No	Ensembl
rs1555087043	315	S>C		No	gnomAD
rs782608816	316	R>Q		No	ExAC TOPMed gnomAD
COSM1210877 rs782432411 COSM1210878	316	R>W	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1414854106	317	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs549877508	317	R>H		No	1000Genomes ExAC TOPMed gnomAD
rs1414854106 COSM5668998 COSM5668997	317	R>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed gnomAD
TCGA novel	318	A>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1170799147	318	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs938290232	319	A>T		No	Ensembl
rs1555087071	320	C>W		No	TOPMed gnomAD
rs1555087075	321	T>I		No	gnomAD
rs782038819	323	Q>E		No	ExAC gnomAD
rs782038819	323	Q>K		No	ExAC gnomAD
rs781923937	325	A>T		No	ExAC gnomAD
rs1865853983	326	F>V		No	TOPMed
rs782102155	327	R>H		No	1000Genomes ExAC gnomAD
rs1865854109	327	R>S		No	TOPMed
rs1555087098	329	Y>H		No	TOPMed gnomAD
rs1865854569	330	Q>R		No	TOPMed gnomAD
rs1555087103	332	S>N		No	gnomAD
TCGA novel	333	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs564712326	335	F>L		No	1000Genomes ExAC TOPMed gnomAD
rs782111165	336	E>D		No	ExAC TOPMed gnomAD
rs144936538	336	E>K		No	ESP ExAC TOPMed gnomAD
rs144936538	336	E>Q		No	ESP ExAC TOPMed gnomAD
rs1865855478	337	K>E		No	gnomAD
COSM1254917 COSM1254918	339	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1555087112	339	R>G		No	gnomAD
rs896683790	339	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs1555087116	340	N>S		No	gnomAD
rs1555087120	341	S>L		No	gnomAD
rs1555087123	342	L>I		No	gnomAD
rs1565424982	345	S>R		No	Ensembl
COSM321038 rs781883253	346	R>C	lung [Cosmic]	No	cosmic curated ExAC gnomAD
rs782058255	346	R>H		No	ExAC TOPMed gnomAD
rs782058255	346	R>P		No	ExAC TOPMed gnomAD
rs1218053116	347	L>P		No	TOPMed
rs375324399	348	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1555087128	349	R>G		No	gnomAD
rs782529057	349	R>L		No	ExAC TOPMed gnomAD
rs782529057	349	R>Q		No	ExAC TOPMed gnomAD
COSM2157505 COSM2157504	349	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782640693	350	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1436670316	350	R>W		No	TOPMed gnomAD
rs1555087147	352	S>C		No	gnomAD
rs1362527178	352	S>P		No	TOPMed gnomAD
rs1362527178	352	S>T		No	TOPMed gnomAD
rs1448451909	353	L>R		No	TOPMed gnomAD
rs367585012	353	L>V		No	ESP ExAC TOPMed gnomAD
rs532177168	354	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs532177168	354	R>G		No	1000Genomes ExAC TOPMed gnomAD
RCV000967865 rs782603737	354	R>H		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs782603737	354	R>L		No	ExAC TOPMed gnomAD
rs1390737155	357	R>P		No	TOPMed gnomAD
rs1390737155	357	R>Q		No	TOPMed gnomAD
rs868934519	357	R>W		No	gnomAD
rs782262240	360	T>A		No	ExAC TOPMed gnomAD
rs1555087174	360	T>M		No	gnomAD
rs782320426	362	E>D		No	ExAC TOPMed gnomAD
COSM254745 COSM1746780 rs782138378	362	E>K	urinary_tract [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
COSM692722 rs782138378 COSM692723	362	E>Q	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM430907 COSM430908	363	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1001318563	363	S>G		No	Ensembl
rs781999021	363	S>R		No	ExAC TOPMed gnomAD
rs1555087186	363	S>T		No	gnomAD
rs1555087191	364	L>V		No	gnomAD
rs149068530	365	A>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP NCI-TCGA TOPMed gnomAD
rs1555087194	365	A>T		No	gnomAD
rs1555087201	366	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
TCGA novel	367	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs900471184	367	E>K		No	TOPMed gnomAD
rs900471184	367	E>Q		No	TOPMed gnomAD
rs782785262	369	A>P		No	ExAC TOPMed gnomAD
rs782785262	369	A>T		No	ExAC TOPMed gnomAD
COSM5743531 rs370321433 COSM5743530	369	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs782799379	370	L>F		No	ExAC TOPMed gnomAD
rs782799379	370	L>V		No	ExAC TOPMed gnomAD
rs370108707	371	M>T		No	Ensembl
rs1555087232	371	M>V		No	gnomAD
rs1865863038	373	G>D		No	TOPMed
rs1555087239	374	Y>H		No	gnomAD
rs781821055	375	G>R		No	ExAC TOPMed gnomAD
rs781821055	375	G>S		No	ExAC TOPMed gnomAD
rs1865863881	376	L>P		No	Ensembl
rs1555087249	377	V>L		No	1000Genomes gnomAD
rs1555087249	377	V>M		No	1000Genomes gnomAD
rs1555087260	378	G>E		No	TOPMed gnomAD
rs1555087252	378	G>R		No	gnomAD
rs2136996993	379	L>V		No	Ensembl
rs983293983	380	P>L		No	TOPMed gnomAD
TCGA novel	380	P>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs148181079	380	P>T		No	ESP TOPMed gnomAD
rs201093808	382	V>A		No	1000Genomes ExAC TOPMed gnomAD
rs782403225	382	V>M		No	ExAC TOPMed gnomAD
rs782348032	383	R>H		No	ExAC TOPMed gnomAD
rs1479369681	384	S>L		No	TOPMed gnomAD
rs973535314	384	S>P		No	TOPMed gnomAD
rs146894404	385	P>H		No	ESP ExAC TOPMed gnomAD
rs146894404	385	P>L		No	ESP ExAC TOPMed gnomAD
rs782248624	385	P>S		No	ExAC TOPMed gnomAD
rs782248624	385	P>T		No	ExAC TOPMed gnomAD
rs1221691608	386	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs2136997176	387	L>Q		No	Ensembl
rs1555087328	388	P>L		No	TOPMed gnomAD
rs1555087333	389	P>S		No	gnomAD
rs782074093	390	T>I		No	ExAC gnomAD
rs1555087341	391	F>L		No	gnomAD
rs139370607	392	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs781971008	393	G>D		No	ExAC TOPMed gnomAD
rs781971008	393	G>V		No	ExAC TOPMed gnomAD
rs1555087354	394	T>I		No	TOPMed gnomAD
rs1555087354	394	T>N		No	TOPMed gnomAD
rs1290137028	396	T>S		No	TOPMed gnomAD
rs782549208	397	E>D		No	ExAC gnomAD
rs760282477	397	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs760282477	397	E>Q		No	ExAC gnomAD
rs569889025	398	L>M		No	1000Genomes ExAC gnomAD
TCGA novel	400	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2136997340	402	F>I		No	Ensembl
rs2136997343	402	F>L		No	Ensembl
rs1555087382	403	T>I		No	gnomAD
rs2136997348	403	T>P		No	Ensembl
rs372906158	404	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs372906158	404	E>Q		No	ESP ExAC TOPMed gnomAD
rs2136997393	405	Q>L		No	Ensembl
rs2136997420	407	Q>H		No	Ensembl
rs2136997412	407	Q>P		No	Ensembl
rs2136997432	410	A>T		No	Ensembl
rs2136997439	410	A>V		No	Ensembl
rs2136997465	411	K>*		No	Ensembl
rs782682048	413	I>T		No	ExAC
rs1865870315	413	I>V		No	gnomAD
rs1555087417	414	D>H		No	gnomAD
TCGA novel rs1555087417	414	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1555087417	414	D>Y		No	gnomAD
rs782425918	415	D>H		No	gnomAD
rs782425918	415	D>N		No	gnomAD
rs1555087421	415	D>V		No	gnomAD
rs1555087431	416	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1555087439	418	S>I		No	gnomAD
rs1555087439	418	S>N		No	gnomAD
rs781923470	418	S>R		No	ExAC gnomAD
rs1555087443	419	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs2136997655	419	T>S		No	Ensembl
rs1865872279	421	S>R		No	TOPMed
rs782235919	424	T>A		No	ExAC gnomAD
rs949603316	425	M>I		No	TOPMed gnomAD
rs1163110542	425	M>K		No	TOPMed
rs1555087458	425	M>L		No	gnomAD
rs1163110542	425	M>T		No	TOPMed
rs1555087458	425	M>V		No	gnomAD
rs1413245636	427	S>C		No	TOPMed gnomAD
rs1413245636	427	S>F		No	TOPMed gnomAD
rs1865873733	429	R>Q		No	Ensembl
COSM4170385 COSM4170384	429	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1555087486	430	E>D		No	gnomAD
rs1555087482	430	E>K		No	TOPMed gnomAD
rs1555087482	430	E>Q		No	TOPMed gnomAD
rs1555087489	431	S>N		No	gnomAD
rs1555087494	431	S>R		No	gnomAD
rs2136997816	433	A>T		No	1000Genomes
rs1555087496	434	Y>C		No	gnomAD
rs1865874718	435	Q>H		No	Ensembl
rs1184791320	437	H>L		No	TOPMed gnomAD
rs1555087501	438	Q>*		No	gnomAD
rs1865875153	439	A>T		No	Ensembl
rs782818988	441	Q>H		No	ExAC TOPMed gnomAD
rs1489204893	442	A>G		No	TOPMed gnomAD
rs1489204893	442	A>V		No	TOPMed gnomAD
rs1329440214	443	A>T		No	TOPMed gnomAD
rs571548221	444	A>E		No	1000Genomes TOPMed gnomAD
rs1269728454	444	A>T		No	TOPMed gnomAD
rs571548221	444	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes NCI-TCGA TOPMed gnomAD
rs376048966	445	G>A		No	ExAC TOPMed gnomAD
rs376048966	445	G>E		No	ExAC TOPMed gnomAD
rs782065202	445	G>R		No	ExAC gnomAD
rs781909328	446	P>L		No	ExAC TOPMed gnomAD
rs782024385	446	P>S		No	ExAC TOPMed gnomAD
rs782024385	446	P>T		No	ExAC TOPMed gnomAD
TCGA novel	447	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1555087554	447	P>T		No	gnomAD
rs1865877545	448	G>R		No	TOPMed
rs1555087557	449	L>R		No	Ensembl
rs782535623	450	E>D		No	1000Genomes ExAC gnomAD
rs2136998058	450	E>G		No	Ensembl
rs1865878153	451	A>D		No	Ensembl
rs538975409	451	A>T		No	1000Genomes TOPMed gnomAD
rs1389676284	452	E>K		No	TOPMed gnomAD
rs1161776799	453	G>E		No	TOPMed gnomAD
rs782492131	454	R>P		No	ExAC TOPMed gnomAD
rs782492131	454	R>Q		No	ExAC TOPMed gnomAD
rs782189339	454	R>W		No	ExAC TOPMed
rs782264100	455	A>E		No	1000Genomes ExAC
rs782604680	455	A>T		No	ExAC TOPMed gnomAD
rs782264100	455	A>V		No	1000Genomes ExAC
rs1555087596	456	P>L		No	gnomAD
rs7313003	457	E>D		No	1000Genomes ExAC TOPMed gnomAD
rs782319971	458	S>I		No	ExAC gnomAD
rs782319971	458	S>N		No	ExAC gnomAD
rs1555087612	458	S>R		No	TOPMed gnomAD
rs572367293	459	A>G		No	1000Genomes ExAC TOPMed gnomAD
rs1249537354 COSM5444858 COSM5444859	459	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
COSM2202357 rs572367293 COSM2202358	459	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1865881402	460	G>R		No	Ensembl
rs1555087627	461	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
RCV000891781 rs201111352	461	P>S		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs782335400	462	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs782335400	462	G>W		No	ExAC TOPMed gnomAD
rs1555087634	463	P>L		No	gnomAD
rs1565426156	464	G>E		No	Ensembl
rs542933933	464	G>R		No	1000Genomes ExAC TOPMed gnomAD
rs542933933	464	G>W		No	1000Genomes ExAC TOPMed gnomAD
rs782739817	465	D>E		No	ExAC gnomAD
rs75677829	465	D>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2136998401	466	D>G		No	Ensembl
COSM1285569 COSM1285570	466	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1555087646	466	D>N		No	gnomAD
COSM2202360 COSM2202359 rs181407967	468	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1555087651	468	A>V		No	gnomAD
rs374969763	469	E>D		No	ESP ExAC TOPMed gnomAD
rs782528042	469	E>G		No	ExAC gnomAD
rs781902421	469	E>K		No	ExAC TOPMed gnomAD
rs2136998469	470	T>A		No	Ensembl
rs528910257	470	T>I		No	ExAC TOPMed gnomAD
rs528910257	470	T>N		No	ExAC TOPMed gnomAD
rs782599497	472	G>D		No	ExAC gnomAD
rs1555087677	473	L>M		No	gnomAD
rs782255760	473	L>R		No	ExAC gnomAD
rs782369455	474	P>L		No	ExAC gnomAD
rs782369455	474	P>R		No	ExAC gnomAD
rs1190646902	474	P>S		No	TOPMed
rs1446208230	475	P>L		No	TOPMed gnomAD
rs1446208230	475	P>Q		No	TOPMed gnomAD
rs1446208230	475	P>R		No	TOPMed gnomAD
rs1555087692	475	P>S		No	gnomAD
rs1201975264	477	H>Q		No	TOPMed gnomAD
rs1555087710	478	S>G		No	gnomAD
rs1555087712	479	G>E		No	gnomAD
rs782072943	479	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1279572311	480	T>S		No	TOPMed gnomAD
rs1555087720	481	L>F		No	gnomAD
rs1555087720	481	L>V		No	gnomAD
rs1343037939	482	M>K		No	TOPMed gnomAD
rs1343037939	482	M>T		No	TOPMed gnomAD
rs782311716	483	M>T		No	ExAC TOPMed gnomAD
rs782798937	484	A>G		No	ExAC gnomAD
rs782798937	484	A>V		No	ExAC gnomAD
rs1865887215	485	F>Y		No	Ensembl
rs782082149	486	R>Q		No	ExAC gnomAD
rs1865887423	486	R>W		No	Ensembl
COSM4040934 COSM4040933	487	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM6136528 COSM6136527	488	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs565042085	489	T>A		No	1000Genomes ExAC gnomAD
rs1313824625	490	V>G		No	TOPMed gnomAD
rs782168502	493	A>T		No	ExAC TOPMed gnomAD
rs782793319	494	N>S		No	ExAC gnomAD
rs1565426425	495	Q>E		No	Ensembl
COSM692717 COSM692716	495	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs143185819	495	Q>R		No	ESP ExAC TOPMed gnomAD
rs1555087743	497	I>L		No	gnomAD
TCGA novel	498	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1299249 rs1865888843 COSM1299250	499	V>I	Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed
rs782604156	500	S>A		No	ExAC gnomAD
rs782604156	500	S>T		No	ExAC gnomAD
TCGA novel	500	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs868991697	501	S>Y		No	Ensembl
rs1865889477	502	S>F		No	Ensembl
rs916874214	504	A>S		No	TOPMed
rs1591707251	505	L>Q		No	Ensembl
rs2136998957	505	L>V		No	Ensembl
rs372521253	507	V>L		No	ESP ExAC TOPMed gnomAD
rs1165653588	508	A>V		No	TOPMed gnomAD
rs782230061	509	N>K		No	ExAC gnomAD
rs782572984	509	N>S		No	ExAC TOPMed gnomAD
rs782344487	510	C>Y		No	ExAC gnomAD
rs532113146	511	L>P		No	1000Genomes ExAC TOPMed gnomAD
rs532113146	511	L>R		No	1000Genomes ExAC TOPMed gnomAD
rs1555087800	512	G>D		No	gnomAD
rs540986186	513	A>T		No	1000Genomes ExAC TOPMed gnomAD
rs1555087812	513	A>V		No	gnomAD
rs77474006	514	Q>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs782088139	515	T>K		No	ExAC TOPMed gnomAD
rs782088139	515	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs868916541	517	Q>L		No	Ensembl
rs868916541	517	Q>R		No	Ensembl
rs1555087827	518	A>G		No	TOPMed gnomAD
rs1555087824	518	A>T		No	gnomAD
rs1555087827	518	A>V		No	TOPMed gnomAD
rs375963147	519	P>S		No	ESP ExAC TOPMed gnomAD
rs781845077	520	A>S		No	ExAC TOPMed gnomAD
rs781845077	520	A>T		No	ExAC TOPMed gnomAD
rs782557985	521	E>D		No	ExAC gnomAD
rs1354015519	521	E>V		No	TOPMed gnomAD
rs782722529	522	P>H		No	ExAC
rs1555087848	523	A>E		No	TOPMed gnomAD
rs1555087846	523	A>T		No	gnomAD
rs1555087848	523	A>V		No	TOPMed gnomAD
rs782495678	524	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1555087871	525	G>S		No	gnomAD
rs1338062288	526	K>R		No	TOPMed gnomAD
rs782497212	527	A>D		No	ExAC gnomAD
rs782260697	527	A>P		No	ExAC gnomAD
rs782260697	527	A>T		No	ExAC gnomAD
rs782497212	527	A>V		No	ExAC gnomAD
rs1166719415	528	E>D		No	TOPMed gnomAD
rs1390976593	528	E>K		No	TOPMed gnomAD
rs1390976593	528	E>Q		No	TOPMed gnomAD
rs1459676302	529	Q>H		No	TOPMed gnomAD
rs782275816	529	Q>K		No	ExAC gnomAD
rs1865896208	530	G>D		No	Ensembl
rs1865896083	530	G>S		No	TOPMed gnomAD
rs1865896589	531	E>D		No	TOPMed gnomAD
rs1865896469	531	E>K		No	TOPMed
rs1865896966	534	G>E		No	gnomAD
rs201912061	535	R>G		No	1000Genomes ExAC TOPMed gnomAD
rs782343519	535	R>L		No	ExAC gnomAD
rs782343519	535	R>P		No	ExAC gnomAD
rs782343519	535	R>Q		No	ExAC gnomAD
rs201912061	535	R>W		No	1000Genomes ExAC TOPMed gnomAD
rs1473506050	536	E>A		No	TOPMed gnomAD
rs781992968	537	A>D		No	ExAC TOPMed gnomAD
rs781992968	537	A>V		No	ExAC TOPMed gnomAD
rs1865898020	538	P>R		No	gnomAD
rs782797045	538	P>S		No	ExAC TOPMed gnomAD
rs782797045	538	P>T		No	ExAC TOPMed gnomAD
rs1555087922	539	E>G		No	gnomAD
rs530779417	540	A>D		No	1000Genomes ExAC TOPMed gnomAD
rs530779417	540	A>G		No	1000Genomes ExAC TOPMed gnomAD
rs530779417	540	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs1004834230	542	A>D		No	1000Genomes TOPMed gnomAD
rs890435427	542	A>S		No	gnomAD
rs890435427	542	A>T		No	gnomAD
rs1004834230	542	A>V		No	1000Genomes TOPMed gnomAD
rs1555087953	543	V>M		No	gnomAD
rs782763872	544	G>D		No	ExAC TOPMed gnomAD
rs782548549	545	R>L		No	ExAC gnomAD
rs782548549	545	R>Q		No	ExAC gnomAD
rs1555087956	545	R>W		No	gnomAD
rs1332965052	546	E>K		No	TOPMed gnomAD
rs782574468	547	D>E		No	ExAC TOPMed gnomAD
rs1555087972	547	D>N		No	gnomAD
rs781787069	548	A>S		No	1000Genomes ExAC TOPMed gnomAD
rs781787069 COSM3688136 COSM3688135	548	A>T	large_intestine [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1555087977	548	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1555087986	550	A>D		No	gnomAD
rs1555087982	550	A>T		No	gnomAD
rs1555087992	551	E>K		No	TOPMed gnomAD
rs1555087992	551	E>Q		No	TOPMed gnomAD
rs1865901661	552	D>A		No	TOPMed gnomAD
rs1865901661	552	D>G		No	TOPMed gnomAD
rs1865901561	552	D>N		No	Ensembl
rs1555087998	554	C>*		No	gnomAD
rs1555088010	555	A>E		No	gnomAD
rs1555088002	555	A>T		No	gnomAD
rs2136999840	556	E>A		No	Ensembl
rs1555088017	557	A>D		No	TOPMed gnomAD
rs1555088014	557	A>S		No	gnomAD
rs1555088017	557	A>V		No	TOPMed gnomAD
VAR_061789 rs56204927	558	A>G		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1865902547	558	A>T		No	TOPMed
rs56204927	558	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1555088031	559	A>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1555088024	559	A>P		No	gnomAD
rs1555088024	559	A>S		No	gnomAD
rs1865903348	560	S>T		No	Ensembl
rs1555088043	561	G>E		No	gnomAD
rs782686788	561	G>R		No	ExAC TOPMed gnomAD
rs1555088048	562	A>V		No	gnomAD
rs1555088055	563	A>S		No	gnomAD
rs1555088055	563	A>T		No	gnomAD
rs1331249086	563	A>V		No	TOPMed gnomAD
rs2136999991	564	D>G		No	Ensembl
rs1555088074	564	D>Y		No	gnomAD
rs1555088086	565	G>A		No	TOPMed gnomAD
rs1555088086	565	G>E		No	TOPMed gnomAD
rs1327340097	565	G>R		No	TOPMed gnomAD
rs1555088086	565	G>V		No	TOPMed gnomAD
rs1327340097	565	G>W		No	TOPMed gnomAD
rs1555088097	566	A>P		No	gnomAD
rs1555088097	566	A>S		No	gnomAD
rs1555088106	566	A>V		No	gnomAD
rs1865905299	567	T>A		No	gnomAD
rs2137000059	568	A>V		No	Ensembl
rs782718495	569	P>L		No	Ensembl
rs782267649	569	P>S		No	ExAC gnomAD
rs782315109	570	K>I		No	ExAC TOPMed gnomAD
rs782315109	570	K>R		No	ExAC TOPMed gnomAD
rs1393311777	571	T>I		No	TOPMed gnomAD
rs1393311777	571	T>R		No	TOPMed gnomAD
rs1555088147	575	E>D		No	gnomAD
rs1865906909	576	E>D		No	TOPMed gnomAD
rs1865907021	578	E>V		No	Ensembl
rs1865907255	579	E>K		No	TOPMed
rs781971250	580	T>K		No	ExAC TOPMed gnomAD
rs781971250	580	T>M		No	ExAC TOPMed gnomAD
rs781971250	580	T>R		No	ExAC TOPMed gnomAD
rs1013934116	581	A>V		No	Ensembl
rs1865908323	583	V>L		No	Ensembl
rs1555088171	584	G>E		No	gnomAD
rs782395409	584	G>R		No	ExAC TOPMed gnomAD
rs782395409	584	G>W		No	ExAC TOPMed gnomAD
rs782167597	585	R>*		No	ExAC TOPMed gnomAD
rs782790540	585	R>I		No	ExAC TOPMed gnomAD
rs1555088182	586	G>W		No	gnomAD
rs1023938385	588	E>K		No	TOPMed gnomAD
rs1023938385	588	E>Q		No	TOPMed gnomAD
rs1223652848	589	A>T		No	TOPMed gnomAD
rs2137000353	590	E>V		No	Ensembl
rs782044131	591	A>T		No	ExAC TOPMed gnomAD
rs1865910204	592	G>C		No	Ensembl
rs2137000407	594	L>V		No	Ensembl
rs1320876334	596	Q>*		No	TOPMed gnomAD
rs1317385606	599	S>R		No	TOPMed
rs782757021	600	S>R		No	ExAC TOPMed gnomAD
rs1555088224 COSM6072208 COSM6072209	601	S>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1555088225	602	T>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1555088225	602	T>M		No	gnomAD
rs114561894	603	S>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs186224213	604	T>A		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	604	T>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs752727349	607	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs782627567	608	K>T		No	ExAC TOPMed gnomAD
rs1555088240	609	S>A		No	gnomAD
rs1555088240	609	S>P		No	gnomAD
rs376678794	611	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1240664128	613	A>T		No	TOPMed
COSM4040936 COSM4040935	613	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs144289223	614	S>*		No	ESP ExAC TOPMed gnomAD
rs565762518	614	S>A		No	1000Genomes
rs144289223	614	S>L		No	ESP ExAC TOPMed gnomAD
rs565762518	614	S>P		No	1000Genomes
rs144289223	614	S>W		No	ESP ExAC TOPMed gnomAD
rs2137000648	616	S>P		No	Ensembl
rs782665115	617	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs148707062	617	A>V		No	ESP ExAC TOPMed gnomAD
TCGA novel	619	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1555088291	621	A>D		No	gnomAD
rs1865914856	621	A>S		No	gnomAD
rs782071053	622	L>P		No	ExAC TOPMed gnomAD
rs1215896022	623	Q>L		No	TOPMed
rs1555088313	624	A>S		No	gnomAD
rs782303410	624	A>V		No	ExAC gnomAD
rs1555088325	625	M>I		No	gnomAD
rs782080902	625	M>K		No	ExAC gnomAD
rs781964208	625	M>L		No	ExAC TOPMed gnomAD
rs781964208	625	M>V		No	ExAC TOPMed gnomAD
rs1555088330	626	I>M		No	gnomAD
rs940670329	628	S>N		No	gnomAD
rs940670329	628	S>T		No	gnomAD
rs1555088342	630	P>L		No	TOPMed gnomAD
rs1555088342	630	P>R		No	TOPMed gnomAD
rs782768252	630	P>S		No	ExAC TOPMed gnomAD
rs899087238	631	R>H		No	TOPMed gnomAD
rs899087238	631	R>P		No	TOPMed gnomAD
rs781847621	631	R>S		No	ExAC gnomAD
rs782158961	634	C>Y		No	ExAC gnomAD
rs1865918047	635	E>D		No	gnomAD
rs554885386 COSM50376	635	E>K	large_intestine [Cosmic]	No	cosmic curated 1000Genomes ExAC gnomAD
COSM1359296 rs1311044537 COSM1359295	636	N>K	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated NCI-TCGA TOPMed gnomAD
rs781805292	637	P>A		No	ExAC TOPMed gnomAD
rs1865918500	637	P>L		No	TOPMed
rs781805292	637	P>T		No	ExAC TOPMed gnomAD
rs1555088360	638	A>V		No	gnomAD
rs782484857	639	S>I		No	ExAC TOPMed gnomAD
rs1591708682	640	C>R		No	Ensembl
rs1865919095	640	C>Y		No	TOPMed
rs1591708698	642	S>L		No	Ensembl
rs1555088368	642	S>T		No	gnomAD
rs781877531	644	T>M		No	ExAC gnomAD
rs782519499	645	L>F		No	ExAC TOPMed gnomAD
rs782519499	645	L>I		No	ExAC TOPMed gnomAD
rs1186259631	647	T>A		No	gnomAD
rs894279869	648	D>E		No	TOPMed gnomAD
rs1555088386	648	D>H		No	TOPMed gnomAD
rs1555088386	648	D>N		No	TOPMed gnomAD
rs1260218133	649	T>N		No	TOPMed
rs1013987962	650	L>M		No	Ensembl
rs782280862	650	L>P		No	ExAC gnomAD
rs1865921721	651	R>C		No	Ensembl
rs1555088402	656	R>C		No	gnomAD
rs1865922085	658	G>S		No	gnomAD
rs146264787	664	I>T		No	ESP gnomAD
rs1305361305	664	I>V		No	TOPMed gnomAD
rs1555089050	665	N>K		No	gnomAD
rs1555089049	665	N>T		No	gnomAD
rs1866005971	666	P>H		No	TOPMed
rs1555089054	666	P>S		No	TOPMed gnomAD
rs782306639	667	D>H		No	ExAC gnomAD
rs782306639	667	D>N		No	ExAC gnomAD
rs782266584	668	K>E		No	ExAC gnomAD
rs2137005374	670	I>N		No	Ensembl
rs781970421	672	F>S		No	Ensembl
rs781970421	672	F>Y		No	Ensembl
rs2137005408	673	L>P		No	Ensembl
rs1479069351	673	L>V		No	TOPMed
TCGA novel	675	S>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs139440816	676	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
COSM1639099 COSM1639100 rs572769299	676	R>H	stomach [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs139440816	676	R>S		No	ESP ExAC TOPMed gnomAD
rs1555089095	677	G>A		No	gnomAD
rs782808971	677	G>S		No	ExAC gnomAD
rs781935378 COSM171703	680	P>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated ExAC NCI-TCGA gnomAD
rs1866008692	681	D>H		No	gnomAD
rs782751138	684	I>F		No	ExAC gnomAD
rs782751138	684	I>L		No	ExAC gnomAD
rs1866009096	684	I>N		No	Ensembl
rs1866009096	684	I>T		No	Ensembl
COSM692710 COSM692711 rs965193182	685	G>S	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs782131037	690	L>F		No	ExAC TOPMed gnomAD
rs782761714	690	L>H		No	ExAC gnomAD
rs1866009996	692	Q>*		No	gnomAD
TCGA novel	692	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1591711870	692	Q>P		No	Ensembl
rs781903513	693	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1565429747	693	R>P		No	Ensembl
rs1565429747	693	R>Q		No	Ensembl
rs1555089129	697	S>R		No	gnomAD
rs199738788	698	R>C		No	ExAC TOPMed gnomAD
rs782477947	698	R>H		No	ExAC TOPMed gnomAD
rs201895451	700	M>L		No	1000Genomes ExAC TOPMed gnomAD
rs782256053	701	I>T		No	ExAC TOPMed gnomAD
rs1866012001	703	E>G		No	TOPMed
rs1866012255	708	S>R		No	Ensembl
COSM1359501 COSM1359500 rs150994565	714	R>C	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs563584375	714	R>H		No	1000Genomes ExAC TOPMed gnomAD
COSM6136524 COSM6136525	715	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs200723340	715	D>N		No	1000Genomes ExAC TOPMed gnomAD
rs1555089161	716	V>L		No	TOPMed gnomAD
rs1555089161	716	V>M		No	TOPMed gnomAD
rs1555089164	717	L>P		No	gnomAD
rs1456330955	717	L>V		No	TOPMed
rs781980493	718	D>H		No	ExAC gnomAD
rs1555094480	719	C>R		No	gnomAD
rs1866711111	719	C>Y		No	Ensembl
rs782417408	720	V>M		No	ExAC TOPMed gnomAD
rs1248083882	722	D>G		No	TOPMed gnomAD
rs1555094497	722	D>N		No	TOPMed gnomAD
rs1555094507	723	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1555094510	724	M>I		No	gnomAD
rs1866712419	724	M>V		No	Ensembl
rs781965029	725	D>G		No	ExAC gnomAD
rs782075832	728	S>G		No	ExAC TOPMed gnomAD
rs1452096270	728	S>I		No	TOPMed gnomAD
rs1452096270	728	S>N		No	TOPMed gnomAD
rs782783310	728	S>R		No	ExAC gnomAD
rs1866713369	729	M>I		No	TOPMed
rs1555094519	729	M>T		No	TOPMed gnomAD
rs1866713499	730	E>K		No	TOPMed
rs1555094524	733	E>G		No	TOPMed gnomAD
rs556124525	733	E>K		No	1000Genomes ExAC TOPMed gnomAD
rs1555094527	734	A>V		No	gnomAD
rs1555094532	735	L>M		No	gnomAD
rs782714582	736	R>C		No	ExAC TOPMed gnomAD
COSM4041041 rs371016888 COSM4041040	736	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs782492092	737	K>N		No	ExAC TOPMed gnomAD
rs1164535611	738	F>L		No	TOPMed gnomAD
rs1555094551	740	A>E		No	TOPMed gnomAD
rs1446995433	740	A>T		No	TOPMed
rs1555094551	740	A>V		No	TOPMed gnomAD
rs1866714983	741	H>Y		No	TOPMed
rs149681841	743	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs149681841	743	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM1254920 COSM1254919 rs145520553	743	R>H	oesophagus [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs145520553	743	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	745	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1866715956	745	Q>R		No	Ensembl
COSM1476442 COSM1476441	746	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1480067916	746	G>R		No	TOPMed gnomAD
COSM1360365 COSM1360366	747	E>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1224519762	749	Q>R		No	TOPMed gnomAD
TCGA novel	750	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2137039623	751	V>A		No	Ensembl
rs527558225	753	R>L		No	1000Genomes ExAC TOPMed gnomAD
rs527558225	753	R>P		No	1000Genomes ExAC TOPMed gnomAD
COSM938217 COSM938216 rs527558225	753	R>Q	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM4748260 rs1555094576 COSM4748261	753	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1866717113	755	I>M		No	TOPMed
rs1866717001 COSM4913234 COSM4913233	755	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs1866717234	756	E>D		No	TOPMed
rs1555094577	757	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs782219198	761	R>C		No	ExAC TOPMed gnomAD
COSM355000 rs782396286	761	R>H	lung [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs782219198	761	R>S		No	ExAC TOPMed gnomAD
rs1555094788	764	M>I		No	gnomAD
rs562871449	764	M>K		No	1000Genomes ExAC gnomAD
rs562871449	764	M>T		No	1000Genomes ExAC gnomAD
rs782157830	765	C>W		No	ExAC gnomAD
rs1866735931	765	C>Y		No	Ensembl
rs782400785	766	N>S		No	ExAC TOPMed gnomAD
rs782575514 COSM5087787 COSM5087788	768	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1225035094	769	V>A		No	TOPMed
rs2137040700	769	V>M		No	Ensembl
rs1555094818	771	Q>E		No	gnomAD
rs1347880975	774	H>P		No	TOPMed gnomAD
rs1347880975	774	H>R		No	TOPMed gnomAD
rs1347195748	777	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
COSM1733214 rs1555094828 COSM1733213	777	D>N	Variant assessed as Somatic; MODERATE impact. pancreas [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs782814335	780	F>L		No	ExAC gnomAD
rs1866737969	781	I>V		No	gnomAD
rs369214565	783	A>T		No	ESP ExAC TOPMed gnomAD
rs1161199661	785	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1402568199	787	I>V		No	Ensembl
rs1866739905	790	N>H		No	Ensembl
rs1866739997	790	N>T		No	Ensembl
rs782655723	791	T>A		No	ExAC
rs782655723	791	T>P		No	ExAC
rs1866740501	792	D>A		No	Ensembl
rs2137040919	792	D>N		No	Ensembl
rs201521457	793	M>I		No	1000Genomes
rs1555094864	793	M>L		No	TOPMed gnomAD
rs1555094868	793	M>T		No	TOPMed gnomAD
rs868926829	796	P>L		No	gnomAD
rs782660051	797	N>D		No	ExAC gnomAD
COSM3459579 COSM3459580 rs1686836014	797	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic gnomAD
rs782299042	798	I>N		No	ExAC gnomAD
rs1271506006	800	P>R		No	TOPMed gnomAD
rs1555094882	801	D>N		No	gnomAD
rs782523704	802	R>G		No	ExAC TOPMed gnomAD
rs200760751	802	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs782523704	802	R>W		No	ExAC TOPMed gnomAD
COSM1360369 COSM1360370	807	E>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1218531837	807	E>D		No	TOPMed gnomAD
COSM1360372 COSM1360371	808	D>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782154054	811	R>*		No	ExAC TOPMed gnomAD
rs782717266	811	R>L		No	ExAC gnomAD
rs782717266 COSM294469	811	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
COSM3459582 COSM3459581 rs1866742972	814	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes
rs1555094915	814	R>Q		No	gnomAD
COSM1360385 rs1462809067 COSM1360384	818	D>N	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs143760704	820	A>S		No	ESP ExAC TOPMed gnomAD
rs143760704	820	A>T		No	ESP ExAC TOPMed gnomAD
rs1591744710	822	I>V		No	Ensembl
COSM1360387 COSM1360386 rs1866912434	823	P>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed
rs148128563	824	R>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1866912697	825	E>K		No	TOPMed
COSM4921015 COSM4921014	826	L>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1438137129 TCGA novel	827	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs782198288	828	V>A		No	ExAC gnomAD
TCGA novel	828	V>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782397032	834	I>V		No	ExAC gnomAD
rs782294753	836	Q>H		No	ExAC TOPMed gnomAD
rs781930051	841	S>Y		No	ExAC gnomAD
rs542787035	842	N>I		No	1000Genomes ExAC TOPMed gnomAD
rs542787035	842	N>S		No	1000Genomes ExAC TOPMed gnomAD
rs150210857	846	V>I		No	ESP ExAC TOPMed gnomAD
TCGA novel	847	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782132448 COSM1676610 COSM1676611	847	T>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs782450946	849	V>I		No	ExAC TOPMed gnomAD
rs879946505	850	T>I		No	gnomAD
rs879946505	850	T>N		No	gnomAD
rs1555096417	852	V>M		No	gnomAD
rs782708929	853	E>V		No	ExAC gnomAD
COSM3459715 rs1866916233 COSM3459716	855	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs1866916467	856	I>T		No	TOPMed
rs1555096423	856	I>V		No	TOPMed gnomAD
rs141934093	857	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs141934093	857	V>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs146312743	858	G>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs781866238	858	G>V		No	ExAC
rs782558594	859	M>R		No	ExAC TOPMed gnomAD
rs782558594	859	M>T		No	ExAC TOPMed gnomAD
rs1866917176	860	K>E		No	TOPMed
rs782662417	861	T>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
COSM352441 rs782720673	862	V>L	lung [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs782720673	862	V>M		No	ExAC TOPMed gnomAD
rs139400594	865	V>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1867021552	866	P>L		No	TOPMed
rs2137053127	866	P>S		No	Ensembl
TCGA novel	867	H>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs545050878	868	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes NCI-TCGA TOPMed gnomAD
COSM2203592 COSM2203591	869	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	870	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs781864839	871	V>A		No	ExAC gnomAD
rs1282511771	871	V>M		No	TOPMed
rs782494740	872	C>W		No	ExAC gnomAD
rs1555097100	872	C>Y		No	gnomAD
COSM6072140 COSM6072141	874	S>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs994946060	875	R>G		No	TOPMed
rs376435893	875	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs994946060	875	R>W		No	TOPMed
rs564741148	877	F>L		No	ExAC TOPMed gnomAD
rs782453466	878	E>K		No	ExAC gnomAD
rs782453466	878	E>Q		No	ExAC gnomAD
rs1555097121	879	V>M		No	gnomAD
rs1380809423	880	T>A		No	TOPMed
rs782211674	880	T>M		No	ExAC TOPMed gnomAD
rs782211674	880	T>R		No	ExAC TOPMed gnomAD
rs782297067	882	V>M		No	ExAC TOPMed gnomAD
rs782406472	883	N>H		No	ExAC TOPMed gnomAD
rs1555097145	883	N>K		No	gnomAD
rs2137053350	884	K>T		No	Ensembl
rs782177788	885	L>P		No	ExAC gnomAD
rs781939906	885	L>V		No	ExAC gnomAD
COSM1360389 COSM1360388	888	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1555097160	889	A>E		No	gnomAD
rs371146590	889	A>T		No	ESP ExAC TOPMed gnomAD
rs781941662	890	A>V		No	ExAC gnomAD
rs1555097168	891	H>R		No	gnomAD
rs572443682	892	Q>H		No	1000Genomes ExAC gnomAD
rs1555097180	893	R>K		No	Ensembl
rs1466581216	895	V>L		No	TOPMed gnomAD
rs782030422	896	F>I		No	ExAC gnomAD
rs782141347	897	L>V		No	ExAC gnomAD
rs1555097194	899	N>S		No	TOPMed gnomAD
rs1555097198	900	D>H		No	gnomAD
COSM231268 rs1555097198	900	D>N	Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
COSM938383 COSM938384	901	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	903	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs918549656	906	K>R		No	TOPMed gnomAD
rs1555097949	907	L>P		No	gnomAD
rs781833920	908	C>S		No	ExAC gnomAD
rs782464556 COSM3716401 COSM3716400	909	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs782464556	909	P>Q		No	1000Genomes ExAC TOPMed gnomAD
rs782464556	909	P>R		No	1000Genomes ExAC TOPMed gnomAD
rs1555097954	909	P>S		No	TOPMed gnomAD
rs1464382778	910	K>T		No	TOPMed gnomAD
rs1867122565	911	K>E		No	Ensembl
rs1555097960	912	K>Q		No	gnomAD
rs2137057470	913	S>G		No	Ensembl
COSM693526 COSM693527	913	S>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1224134361	915	S>F		No	TOPMed
rs782674552	916	T>M		No	ExAC gnomAD
rs782674552	916	T>R		No	ExAC gnomAD
rs782188727	918	T>I		No	ExAC gnomAD
rs782188727	918	T>S		No	ExAC gnomAD
rs1555097986	919	F>I		No	gnomAD
rs1363169202	919	F>S		No	TOPMed
rs1555098004	920	C>S		No	gnomAD
rs1555098004	920	C>Y		No	gnomAD
rs782595938	921	K>Q		No	ExAC gnomAD
rs1555098021	922	S>L		No	gnomAD
rs782268842	923	V>A		No	ExAC gnomAD
rs782376575	924	G>D		No	ExAC gnomAD
rs782156971	927	G>D		No	ExAC TOPMed gnomAD
rs1867125958	928	M>I		No	TOPMed gnomAD
rs782330071	928	M>V		No	ExAC gnomAD
COSM6072139 COSM6072138	930	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1388477096	931	Q>H		No	TOPMed gnomAD
rs1867126271	933	F>C		No	TOPMed
rs1336845895	934	E>D		No	TOPMed gnomAD
COSM3688146 rs868973756 COSM3688145	935	N>S	large_intestine [Cosmic]	No	cosmic curated Ensembl
rs1565449160	936	E>K		No	gnomAD
rs1565449160 COSM2203645 COSM2203646	936	E>Q	large_intestine [Cosmic]	No	cosmic curated gnomAD
rs1867127568	937	Y>H		No	Ensembl
rs1867140355	938	Y>F		No	gnomAD
rs1555098176	939	S>A		No	gnomAD
rs1180365989	939	S>F		No	TOPMed
rs1867141059	940	H>R		No	Ensembl
rs1867141189	941	G>S		No	Ensembl
rs782029444	941	G>V		No	ExAC gnomAD
rs1555098183	945	V>G		No	gnomAD
rs1867141584	945	V>L		No	TOPMed
rs201553036 COSM1360397 COSM1360398	947	P>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs201553036	947	P>R		No	1000Genomes ExAC TOPMed gnomAD
COSM42713 COSM2150772	947	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1742468 rs782100300 COSM1742467	949	S>L	urinary_tract [Cosmic]	No	cosmic curated ExAC gnomAD
rs1211944033	949	S>T		No	TOPMed gnomAD
COSM3459810 COSM3459809	950	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1330661119	951	S>P		No	TOPMed gnomAD
rs781815118	952	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1043357098	954	K>Q		No	Ensembl
rs1555098212	955	Q>K		No	gnomAD
rs1555098217	956	V>L		No	TOPMed gnomAD
rs782445100	958	H>R		No	ExAC TOPMed gnomAD
rs1565449548	958	H>Y		No	Ensembl
rs1384826450	960	C>S		No	TOPMed
rs1867144702	961	A>P		No	TOPMed
rs782223384	961	A>V		No	ExAC gnomAD
rs1867145117	962	L>P		No	Ensembl
rs1867145381	964	S>L		No	gnomAD
rs782285801	965	D>E		No	ExAC TOPMed gnomAD
rs1867145713	965	D>V		No	Ensembl
COSM4841543 COSM4841542	966	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1867146040	967	M>K		No	gnomAD
rs1867146186	968	Q>R		No	Ensembl
rs373053650	970	F>L		No	ESP ExAC TOPMed gnomAD
rs781933231	971	V>M		No	ExAC gnomAD
rs565003919	972	E>Q		No	Ensembl
rs1555098245	973	D>H		No	gnomAD
COSM693525 rs1555098245 COSM693524	973	D>N	lung [Cosmic]	No	cosmic curated gnomAD
rs782178217	974	L>M		No	ExAC
COSM3792475 rs781947242 COSM3792476	975	K>E	Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
COSM4041151 COSM4041150	975	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1156950280	977	S>A		No	TOPMed gnomAD
rs1555098256	977	S>F		No	gnomAD
rs1867148213	978	I>V		No	TOPMed
rs1867148391	981	V>A		No	Ensembl
COSM4152780 COSM4152779 rs1555098263	982	T>M	kidney [Cosmic]	No	cosmic curated gnomAD
rs1867148922 COSM3811740 COSM3811739	983	E>K	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs901309753	984	L>M		No	TOPMed gnomAD
rs375021276	987	I>S		No	Ensembl
rs375021276	987	I>T		No	Ensembl
rs782021780	988	R>*		No	ExAC TOPMed gnomAD
rs782064836	988	R>L		No	ExAC TOPMed gnomAD
rs782064836	988	R>Q		No	ExAC TOPMed gnomAD
rs782705238	989	I>M		No	ExAC gnomAD
rs782586813	989	I>T		No	gnomAD
rs782480107	990	E>A		No	ExAC TOPMed gnomAD
TCGA novel rs1867151288	990	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	TOPMed NCI-TCGA
rs782480107	990	E>G		No	ExAC TOPMed gnomAD
rs781843339	990	E>Q		No	ExAC TOPMed gnomAD
COSM3459883 COSM3459884	991	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1591757115	993	L>P		No	Ensembl
rs781908285	994	E>K		No	ExAC gnomAD
rs1555099442	995	K>T		No	Ensembl
rs1215680488	996	Q>E		No	TOPMed
rs782536866	996	Q>R		No	ExAC gnomAD
rs1555099453	998	G>E		No	gnomAD
rs782590782	999	T>R		No	ExAC gnomAD
rs1938826957	1000	K>Q		No	gnomAD
rs782179616	1001	T>I		No	ExAC gnomAD
rs1938827714	1002	L>V		No	TOPMed
COSM3459889 COSM3459890	1006	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782360292	1007	C>W		No	ExAC TOPMed gnomAD
COSM1299278 COSM1299279	1008	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs373829594	1008	G>R		No	ESP ExAC TOPMed gnomAD
rs1555099472	1009	A>G		No	TOPMed gnomAD
rs782265502	1009	A>T		No	ExAC gnomAD
rs1555099472	1009	A>V		No	TOPMed gnomAD
rs367989775	1011	G>A		No	ESP ExAC TOPMed gnomAD
rs782144952	1012	D>G		No	ExAC gnomAD
rs782029989	1012	D>H		No	ExAC TOPMed gnomAD
rs782029989	1012	D>N		No	ExAC TOPMed gnomAD
rs782323772	1013	P>S		No	ExAC gnomAD
rs1565452269	1014	Q>E		No	Ensembl
rs1555099491	1014	Q>P		No	Ensembl
rs1938830408	1016	K>E		No	TOPMed
rs1938830587	1017	Q>E		No	TOPMed gnomAD
rs1938830738	1018	G>E		No	TOPMed
rs1555099494 COSM1704854 COSM1704853	1019	S>L	Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs781870713	1020	P>L		No	ExAC TOPMed gnomAD
rs781870713	1020	P>R		No	ExAC TOPMed gnomAD
rs1555099499	1020	P>S		No	gnomAD
rs1315440752	1021	T>I		No	TOPMed gnomAD
rs1591759983	1023	K>R		No	Ensembl
COSM468244 COSM468245	1024	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3871447 rs868968040 COSM3871448	1025	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs782068628	1027	A>E		No	ExAC TOPMed gnomAD
rs113137859 COSM693453 COSM693454	1027	A>T	lung [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs782068628	1027	A>V		No	ExAC TOPMed gnomAD
rs1938967354	1028	L>F		No	TOPMed gnomAD
COSM3811805 COSM3811804	1028	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2137070284	1029	R>G		No	Ensembl
rs782774610	1030	E>D		No	ExAC gnomAD
rs1256892961	1030	E>K		No	TOPMed
rs1555100108	1031	R>G		No	gnomAD
rs1938968248	1031	R>T		No	TOPMed
rs139593864	1032	P>L		No	ESP ExAC TOPMed gnomAD
rs1938968425 COSM4041268 COSM4041267	1032	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs781803323	1033	A>E		No	ExAC TOPMed gnomAD
rs781803323	1033	A>G		No	ExAC TOPMed gnomAD
rs781803323	1033	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs782527672	1034	E>G		No	ExAC gnomAD
rs375024262	1034	E>K		No	ESP ExAC TOPMed gnomAD
rs1565453866	1035	S>N		No	Ensembl
rs574196677	1035	S>R		No	1000Genomes ExAC gnomAD
rs1938970157	1035	S>R		No	Ensembl
rs782274285	1036	T>K		No	ExAC TOPMed gnomAD
rs782274285	1036	T>M		No	ExAC TOPMed gnomAD
TCGA novel	1037	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1938971151	1038	E>G		No	TOPMed gnomAD
rs776005094	1039	V>A		No	ExAC TOPMed gnomAD
rs2137076705	1039	V>M		No	Ensembl
rs1226280734	1042	H>Q		No	gnomAD
rs1011145479	1043	N>S		No	TOPMed gnomAD
rs769019293	1047	T>M		No	ExAC TOPMed gnomAD
rs1262558656	1049	Q>*		No	TOPMed gnomAD
rs1417387210	1049	Q>H		No	TOPMed gnomAD
rs1482357782	1050	H>Q		No	gnomAD
rs1939172337	1052	S>A		No	TOPMed gnomAD
rs1037070690	1053	G>R		No	TOPMed gnomAD
rs559230557	1053	G>V		No	1000Genomes ExAC TOPMed gnomAD
COSM6136389	1053	G>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1939172776	1054	L>P		No	TOPMed
rs1420180715	1055	G>E		No	TOPMed gnomAD
rs1356923561	1056	A>P		No	TOPMed gnomAD
rs1356923561	1056	A>T		No	TOPMed gnomAD
rs765939551	1056	A>V		No	ExAC gnomAD
rs759561059	1057	E>D		No	ExAC gnomAD
rs1225501506	1057	E>G		No	TOPMed gnomAD
rs529888980	1057	E>K		No	1000Genomes ExAC TOPMed gnomAD
rs529888980	1057	E>Q		No	1000Genomes ExAC TOPMed gnomAD
rs767354958	1058	R>K		No	ExAC gnomAD
rs1301588046	1059	G>E		No	TOPMed gnomAD
COSM3460000	1059	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs373985905	1060	A>G		No	1000Genomes ExAC TOPMed gnomAD
rs1373863661	1060	A>T		No	TOPMed gnomAD
rs373985905	1060	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs779108316	1061	P>L		No	ExAC TOPMed gnomAD
TCGA novel	1062	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1406364046	1062	V>M		No	Ensembl
rs758492192	1063	P>L		No	ExAC TOPMed gnomAD
rs758492192	1063	P>Q		No	ExAC TOPMed gnomAD
rs747026524 COSM5051533	1064	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1344719129	1065	P>A		No	TOPMed gnomAD
rs781535940	1065	P>L		No	ExAC gnomAD
rs1939176911	1066	D>E		No	gnomAD
rs770244504	1068	Q>R		No	ExAC TOPMed gnomAD
rs1427413348	1070	S>G		No	gnomAD
rs1327853316	1070	S>N		No	gnomAD
rs773021644	1070	S>R		No	ExAC TOPMed gnomAD
rs1444036652	1071	P>S		No	TOPMed gnomAD
TCGA novel	1072	P>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs770678107	1072	P>L		No	ExAC TOPMed gnomAD
rs770678107	1072	P>R		No	ExAC TOPMed gnomAD
rs991445838	1072	P>S		No	TOPMed gnomAD
rs991445838	1072	P>T		No	TOPMed gnomAD
rs2137076998	1074	Q>E		No	Ensembl
rs1304226254	1074	Q>R		No	gnomAD
rs1213020947	1075	Q>H		No	TOPMed gnomAD
rs758958424	1076	T>I		No	ExAC TOPMed gnomAD
rs758958424	1076	T>N		No	ExAC TOPMed gnomAD
rs1591765171	1076	T>P		No	Ensembl
rs767507700	1077	P>L		No	ExAC TOPMed gnomAD
rs767507700	1077	P>Q		No	ExAC TOPMed gnomAD
rs2137077025	1077	P>S		No	Ensembl
rs1939179243	1078	P>S		No	TOPMed
rs201348490	1080	P>L		No	ESP ExAC TOPMed gnomAD
rs1207000034	1080	P>S		No	gnomAD
rs199509919	1081	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1939179816	1081	P>S		No	Ensembl
rs758662655	1082	P>L		No	ExAC gnomAD
rs571687365	1083	P>S		No	1000Genomes ExAC TOPMed gnomAD
rs374690164	1085	T>M		No	ESP ExAC TOPMed gnomAD
rs866435790	1085	T>P		No	Ensembl
COSM6136388 COSM1511671 rs1393518272	1086	P>A	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1393518272	1086	P>T		No	gnomAD
rs373302900	1087	P>L		No	ESP ExAC TOPMed gnomAD
rs373302900	1087	P>R		No	ESP ExAC TOPMed gnomAD
rs1428648768	1088	G>D		No	gnomAD
COSM3460001	1089	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1362868847	1089	T>N		No	TOPMed gnomAD
rs1216584694	1090	L>P		No	gnomAD
rs1216584694	1090	L>R		No	gnomAD
rs749663665	1092	Q>E		No	ExAC TOPMed gnomAD
rs538674611	1093	C>R		No	1000Genomes ExAC gnomAD
rs372645591	1095	Q>E		No	1000Genomes ExAC gnomAD
rs372645591	1095	Q>K		No	1000Genomes ExAC gnomAD
rs745384402	1095	Q>R		No	ExAC TOPMed gnomAD
rs1303720072	1097	V>I		No	TOPMed gnomAD
rs775523405	1099	V>I		No	ExAC TOPMed gnomAD
rs775523405	1099	V>L		No	ExAC TOPMed gnomAD
rs1242235164	1100	I>T		No	TOPMed gnomAD
rs1019135241	1100	I>V		No	TOPMed
rs1476177782	1101	V>G		No	gnomAD
rs2137077212	1102	L>V		No	Ensembl
rs1939183011	1105	P>S		No	TOPMed
rs1939183095	1107	L>Q		No	Ensembl
rs549795968	1108	A>T		No	ExAC gnomAD
rs1461707658	1109	R>C		No	TOPMed gnomAD
rs1461707658	1109	R>G		No	TOPMed gnomAD
rs376437020	1109	R>H		No	ESP ExAC TOPMed gnomAD
rs376437020	1109	R>L		No	ESP ExAC TOPMed gnomAD
rs1400071567	1110	M>V		No	TOPMed gnomAD
TCGA novel	1112	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1939183979	1115	S>T		No	TOPMed
rs1939184159	1117	A>D		No	TOPMed
rs1291598336	1118	L>F		No	TOPMed gnomAD
rs1291598336	1118	L>V		No	TOPMed gnomAD
rs751665421	1119	S>C		No	ExAC TOPMed gnomAD
rs751665421	1119	S>F		No	ExAC TOPMed gnomAD
rs1257480944	1119	S>P		No	TOPMed gnomAD
rs1295535897	1120	C>S		No	gnomAD
rs1295535897	1120	C>Y		No	gnomAD
rs1349124301	1121	Y>C		No	TOPMed gnomAD
rs767542765	1122	T>A		No	ExAC gnomAD
rs962509509	1122	T>I		No	TOPMed gnomAD
rs962509509	1122	T>N		No	TOPMed gnomAD
TCGA novel	1122	T>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs962509509	1122	T>S		No	TOPMed gnomAD
rs371229225	1123	S>L		No	ESP ExAC TOPMed gnomAD
rs371229225	1123	S>W		No	ESP ExAC TOPMed gnomAD
rs373610753	1124	S>*		No	ESP ExAC TOPMed gnomAD
rs373610753	1124	S>L		No	ESP ExAC TOPMed gnomAD
rs1361886338	1125	S>P		No	gnomAD
rs1361886338	1125	S>T		No	gnomAD
rs778653919	1125	S>Y		No	ExAC TOPMed gnomAD
rs1939186197	1127	D>E		No	TOPMed gnomAD
rs1402465896	1128	S>F		No	gnomAD
rs1311169344	1129	C>R		No	gnomAD
rs771738070	1129	C>W		No	ExAC TOPMed gnomAD
rs746520801	1130	G>C		No	ExAC gnomAD
rs746520801	1130	G>S		No	ExAC gnomAD
rs566380878	1131	S>P		No	1000Genomes ExAC TOPMed gnomAD
rs1353482723	1132	T>I		No	gnomAD
rs1353482723	1132	T>K		No	gnomAD
rs1280580511	1132	T>S		No	gnomAD
rs759716833	1133	P>L		No	ExAC gnomAD
rs1279029096	1133	P>S		No	TOPMed gnomAD
rs1279029096	1133	P>T		No	TOPMed gnomAD
rs1248149022	1134	L>M		No	TOPMed gnomAD
rs752879514	1135	G>D		No	ExAC gnomAD
rs2137077453	1135	G>R		No	Ensembl
rs536985439	1136	G>R		No	1000Genomes ExAC TOPMed gnomAD
rs536985439	1136	G>S		No	1000Genomes ExAC TOPMed gnomAD
rs1435557353	1137	P>L		No	gnomAD
rs1394605792	1137	P>S		No	gnomAD
rs758055372	1138	G>A		No	ExAC TOPMed gnomAD
rs758055372	1138	G>D		No	ExAC TOPMed gnomAD
rs746215813	1138	G>S		No	1000Genomes ExAC TOPMed gnomAD
rs758055372	1138	G>V		No	ExAC TOPMed gnomAD
rs906007858	1139	S>C		No	TOPMed gnomAD
rs746537240	1140	P>L		No	ExAC TOPMed gnomAD
rs746537240	1140	P>Q		No	ExAC TOPMed gnomAD
rs1235862069	1144	T>I		No	gnomAD
rs781139214	1145	H>R		No	ExAC TOPMed gnomAD
rs1939189900	1147	P>S		No	TOPMed
rs892016671	1148	P>L		No	TOPMed gnomAD
rs1939190186	1149	L>Q		No	Ensembl
rs1939190793	1150	P>H		No	TOPMed
rs1939190793	1150	P>L		No	TOPMed
rs769739318	1150	P>S		No	ExAC TOPMed gnomAD
rs762793793	1151	P>L		No	ExAC TOPMed gnomAD
rs1201105867	1152	P>A		No	gnomAD
rs775785792	1152	P>L		No	ExAC gnomAD
rs1939191833	1154	P>L		No	TOPMed
rs1402965970	1155	P>A		No	TOPMed gnomAD
rs760865332	1155	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1402965970	1155	P>S		No	TOPMed gnomAD
rs543967520	1156	Y>H		No	1000Genomes gnomAD
rs543967520	1156	Y>N		No	1000Genomes gnomAD
rs1358590655	1156	Y>S		No	Ensembl
rs1285258148	1157	N>H		No	1000Genomes gnomAD
rs1387961622	1157	N>K		No	gnomAD
rs1315003959	1157	N>T		No	gnomAD
rs753949798	1158	H>N		No	ExAC gnomAD
rs1325456885	1158	H>P		No	gnomAD
rs1227770493	1159	P>L		No	gnomAD
rs1939193152	1159	P>S		No	TOPMed
rs1252843299	1160	H>L		No	gnomAD
rs1252843299	1160	H>P		No	gnomAD
rs1332498413	1160	H>Q		No	gnomAD
rs1252843299	1160	H>R		No	gnomAD
rs1591765844	1161	Q>P		No	Ensembl
rs762271337	1164	P>S		No	ExAC gnomAD
TCGA novel	1168	L>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1469784140	1169	L>M		No	gnomAD
rs758733505	1171	G>R		No	ExAC gnomAD
rs758733505	1171	G>W		No	ExAC gnomAD
rs751174912	1172	H>Q		No	ExAC TOPMed gnomAD
rs2137077800	1172	H>R		No	Ensembl
rs754603203	1173	R>C		No	ExAC gnomAD
rs780720076	1173	R>H		No	ExAC TOPMed gnomAD
rs1277816077	1174	Y>C		No	TOPMed
rs1395811622	1175	S>A		No	gnomAD
rs747687289	1175	S>F		No	ExAC gnomAD
rs777706075	1176	S>N		No	ExAC gnomAD
rs1939195672	1177	G>D		No	TOPMed
rs1382434259	1179	R>G		No	gnomAD
rs993671083	1179	R>K		No	TOPMed gnomAD
rs1353193484	1179	R>S		No	1000Genomes TOPMed gnomAD
rs1939196128	1180	S>C		No	Ensembl
rs1939196293	1181	L>P		No	TOPMed
rs1027792767	1182	V>M		No	Ensembl
COSM3792501	1183	V>Y	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic

No associated diseases with Q9UPP2

2 regional properties for Q9UPP2

Type	Name	Position	InterPro Accession
domain	Sec7 domain	644 - 839	IPR000904
domain	IQ motif and SEC7 domain-containing protein, PH domain	859 - 996	IPR033742

Functions

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

8 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.
GABA-ergic synapse	A synapse that uses GABA as a neurotransmitter. These synapses are typically inhibitory.
glycinergic synapse	A synapse that uses glycine as a neurotransmitter.
inhibitory synapse	A synapse in which an action potential in the presynaptic cell reduces the probability of an action potential occurring in the postsynaptic cell.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
postsynaptic density	An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.
postsynaptic membrane	A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane.
postsynaptic specialization of symmetric synapse	A network of proteins within and adjacent to the postsynaptic membrane of a symmetric synapse, consisting of anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components that spatially and functionally organize the neurotransmitter receptors at the synapse. This structure is not as thick or electron dense as the postsynaptic densities found in asymmetric synapses.

1 GO annotations of molecular function

Name	Definition
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.

2 GO annotations of biological process

Name	Definition
actin cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
regulation of ARF protein signal transduction	Any process that modulates the frequency, rate or extent of ARF protein signal transduction.

14 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9Y6D5	ARFGEF2	Brefeldin A-inhibited guanine nucleotide-exchange protein 2	Homo sapiens (Human)	PR
Q9Y6D6	ARFGEF1	Brefeldin A-inhibited guanine nucleotide-exchange protein 1	Homo sapiens (Human)	PR
Q5JU85	IQSEC2	IQ motif and SEC7 domain-containing protein 2	Homo sapiens (Human)	EV
Q6DN90	IQSEC1	IQ motif and SEC7 domain-containing protein 1	Homo sapiens (Human)	EV
Q99418	CYTH2	Cytohesin-2	Homo sapiens (Human)	SS
Q9UIA0	CYTH4	Cytohesin-4	Homo sapiens (Human)	SS
O43739	CYTH3	Cytohesin-3	Homo sapiens (Human)	EV
Q15438	CYTH1	Cytohesin-1	Homo sapiens (Human)	SS
Q92538	GBF1	Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1	Homo sapiens (Human)	PR
Q5DU25	Iqsec2	IQ motif and SEC7 domain-containing protein 2	Mus musculus (Mouse)	SS
Q8R0S2	Iqsec1	IQ motif and SEC7 domain-containing protein 1	Mus musculus (Mouse)	SS
Q3TES0	Iqsec3	IQ motif and SEC7 domain-containing protein 3	Mus musculus (Mouse)	SS
A0A0G2JUG7	Iqsec1	IQ motif and SEC7 domain-containing protein 1	Rattus norvegicus (Rat)	SS
Q76M68	Iqsec3	IQ motif and SEC7 domain-containing protein 3	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MESLLENPVR	AVLYLKELTA	IVQNQQSLIH	TQRERIDELE	RRLDELSAEN	RSLWEHQQLL
70	80	90	100	110	120
QAQPPPGLVP	PSSAPLPAAP	ATAPAAAARA	QEPLQDQGQR	SAAAPHPAPD	RPPRQHHGQL
130	140	150	160	170	180
LEQPQRGPGS	RAHTPQSPHK	HLGTQGAVTD	KEKERPPSCC	AAAGALLQHK	SPSALGKGVL
190	200	210	220	230	240
SRRPENETVL	HQFCCPAADA	CSDLASQSDG	SCTQAGGGME	DSVVAAAAVA	AGRPSAHAPK
250	260	270	280	290	300
AQAQELQEEE	ERPGAGAASP	RAGPQHKASP	GRQQPALATA	LCPHAPAASD	YELSLDLKNK
310	320	330	340	350	360
QIEMLEHKYG	GHLVSRRAAC	TIQTAFRQYQ	LSKNFEKIRN	SLLESRLPRR	ISLRKVRSPT
370	380	390	400	410	420
AESLAAEKAL	MEGYGLVGLP	LVRSPSLPPT	FAGTLTELED	SFTEQVQSLA	KSIDDALSTW
430	440	450	460	470	480
SLKTMCSLRE	SGAYQLHQAL	QAAAGPPGLE	AEGRAPESAG	PGPGDDAAET	PGLPPAHSGT
490	500	510	520	530	540
LMMAFRDVTV	QIANQNISVS	SSTALSVANC	LGAQTVQAPA	EPAAGKAEQG	ETSGREAPEA
550	560	570	580	590	600
PAVGREDASA	EDSCAEAAAS	GAADGATAPK	TEEEEEEEET	AEVGRGAEAE	AGDLEQLSSS
610	620	630	640	650	660
STSTKSAKSG	SEASASASKD	ALQAMILSLP	RYHCENPASC	KSPTLSTDTL	RKRLYRIGLN
670	680	690	700	710	720
LFNINPDKGI	QFLISRGFIP	DTPIGVAHFL	LQRKGLSRQM	IGEFLGNSKK	QFNRDVLDCV
730	740	750	760	770	780
VDEMDFSSME	LDEALRKFQA	HIRVQGEAQK	VERLIEAFSQ	RYCMCNPEVV	QQFHNPDTIF
790	800	810	820	830	840
ILAFAIILLN	TDMYSPNIKP	DRKMMLEDFI	RNLRGVDDGA	DIPRELVVGI	YERIQQKELK
850	860	870	880	890	900
SNEDHVTYVT	KVEKSIVGMK	TVLSVPHRRL	VCCSRLFEVT	DVNKLQKQAA	HQREVFLFND
910	920	930	940	950	960
LLVILKLCPK	KKSSSTYTFC	KSVGLLGMQF	QLFENEYYSH	GITLVTPLSG	SEKKQVLHFC
970	980	990	1000	1010	1020
ALGSDEMQKF	VEDLKESIAE	VTELEQIRIE	WELEKQQGTK	TLSFKPCGAQ	GDPQSKQGSP
1030	1040	1050	1060	1070	1080
TAKREAALRE	RPAESTVEVS	IHNRLQTSQH	NSGLGAERGA	PVPPPDLQPS	PPRQQTPPLP
1090	1100	1110	1120	1130	1140
PPPPTPPGTL	VQCQQIVKVI	VLDKPCLARM	EPLLSQALSC	YTSSSSDSCG	STPLGGPGSP
1150	1160	1170	1180
VKVTHQPPLP	PPPPPYNHPH	QFCPPGSLLH	GHRYSSGSRS	LV